1149 120 27 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 ductal adenocarcinoma' 'Ductal Breast Carcinoma In Situ and Lobular Carcinoma In Situ' SubClassOf 'adenocarcinoma in situ' 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' http://www.ebi.ac.uk/efo/EFO_1000238 Endometrial Serous Adenocarcinoma 'Endometrial Serous Adenocarcinoma' SubClassOf 'endometrial carcinoma' 'Endometrial Serous Adenocarcinoma' SubClassOf 'female reproductive system disease' http://www.ebi.ac.uk/efo/EFO_1000249 Extramammary Paget Disease 'Extramammary Paget Disease' SubClassOf 'skin carcinoma' http://purl.obolibrary.org/obo/UBERON_0002451 endometrial gland 'endometrial gland' SubClassOf 'part_of' some 'trunk' 'endometrial gland' SubClassOf 'part_of' some 'anatomical system' 'endometrial gland' SubClassOf 'part_of' some 'female reproductive system' http://purl.obolibrary.org/obo/UBERON_0002469 esophagus mucosa 'esophagus mucosa' SubClassOf 'part_of' some 'esophagus' http://www.ebi.ac.uk/efo/EFO_1000261 Follicular Variant Thyroid Gland Papillary Carcinoma 'Follicular Variant Thyroid Gland Papillary Carcinoma' SubClassOf 'thyroid carcinoma' 'Follicular Variant Thyroid Gland Papillary Carcinoma' SubClassOf 'thyroid disease' http://www.ebi.ac.uk/efo/EFO_1000267 Gallbladder Squamous Cell Carcinoma 'Gallbladder Squamous Cell Carcinoma' SubClassOf 'genetic skin disease' http://www.ebi.ac.uk/efo/EFO_1000270 Gastric Diffuse Large B-Cell Lymphoma 'Gastric Diffuse Large B-Cell Lymphoma' SubClassOf 'stomach neoplasm' 'Gastric Diffuse Large B-Cell Lymphoma' SubClassOf 'gastrointestinal disease' http://www.ebi.ac.uk/efo/EFO_1000282 Gonadal Teratoma 'Gonadal Teratoma' SubClassOf 'ovarian neoplasm' 'Gonadal Teratoma' SubClassOf 'ovarian disease' http://www.ebi.ac.uk/efo/EFO_1000281 Giant Cell Tumor of Soft Tissue 'Giant Cell Tumor of Soft Tissue' SubClassOf 'soft tissue disease' http://purl.obolibrary.org/obo/UBERON_0002416 integumental system 'integumental system' SubClassOf 'part_of' some 'multicellular organism' http://www.ebi.ac.uk/efo/EFO_1000284 Granular Cell Tumor 'Granular Cell Tumor' SubClassOf 'adenocarcinoma' 'Granular Cell Tumor' SubClassOf 'peripheral nervous system cancer' http://www.ebi.ac.uk/efo/EFO_1000285 Granular Cell Tumor of the Neurohypophysis 'Granular Cell Tumor of the Neurohypophysis' SubClassOf 'granular cell carcinoma' 'Granular Cell Tumor of the Neurohypophysis' SubClassOf 'central nervous system cancer' 'Granular Cell Tumor of the Neurohypophysis' SubClassOf 'granular cell cancer' http://purl.obolibrary.org/obo/UBERON_0002428 limb bone 'limb bone' SubClassOf 'part_of' some 'appendicular skeleton' 'limb bone' SubClassOf 'part_of' some 'anatomical system' 'limb bone' SubClassOf 'part_of' some 'limb' 'limb bone' SubClassOf 'part_of' some 'skeletal system' http://www.ebi.ac.uk/efo/EFO_1000298 Hydatidiform Mole 'Hydatidiform Mole' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/UBERON_0002421 hippocampal formation 'hippocampal formation' SubClassOf 'part_of' some 'pallium' 'hippocampal formation' SubClassOf 'part_of' some 'nervous system' http://purl.obolibrary.org/obo/UBERON_0014454 visceral abdominal adipose tissue 'visceral abdominal adipose tissue' SubClassOf 'part_of' some 'abdomen' http://www.ebi.ac.uk/efo/EFO_0000478 esophageal adenocarcinoma 'esophageal adenocarcinoma' SubClassOf 'carcinoma of esophagus' 'esophageal adenocarcinoma' SubClassOf 'esophageal carcinoma' 'esophageal adenocarcinoma' SubClassOf 'esophageal carcinoma' http://www.ebi.ac.uk/efo/EFO_0000479 essential thrombocythemia 'essential thrombocythemia' SubClassOf 'myeloproliferative disorder' http://www.ebi.ac.uk/efo/EFO_1000209 Craniopharyngioma 'Craniopharyngioma' SubClassOf 'brain neoplasm' http://www.ebi.ac.uk/efo/EFO_1000206 Conjunctival Squamous Cell Carcinoma 'Conjunctival Squamous Cell Carcinoma' SubClassOf 'genetic skin disease' http://www.ebi.ac.uk/efo/EFO_1000214 Dedifferentiated Solitary Fibrous Tumor 'Dedifferentiated Solitary Fibrous Tumor' SubClassOf 'carcinoma' http://www.ebi.ac.uk/efo/EFO_1000210 Cribriform Carcinoma 'Cribriform Carcinoma' SubClassOf 'breast carcinoma' 'Cribriform Carcinoma' SubClassOf 'breast disease' http://www.ebi.ac.uk/efo/EFO_0000466 endometrioid carcinoma 'endometrioid carcinoma' SubClassOf 'female reproductive organ cancer' 'endometrioid carcinoma' SubClassOf 'Genital neoplasm, female' http://www.ebi.ac.uk/efo/EFO_0000365 colorectal adenocarcinoma 'colorectal adenocarcinoma' SubClassOf 'colonic neoplasm' http://www.ebi.ac.uk/efo/EFO_0000389 cutaneous melanoma 'cutaneous melanoma' SubClassOf 'neuroendocrine carcinoma' 'cutaneous melanoma' SubClassOf 'malignant endocrine neoplasm' http://purl.obolibrary.org/obo/MONDO_0021580 neoplasm of jaw 'neoplasm of jaw' SubClassOf 'mouth neoplasm' 'neoplasm of jaw' SubClassOf 'digestive system neoplasm' 'neoplasm of jaw' SubClassOf 'mouth disease' http://www.orpha.net/ORDO/Orphanet_1359 Carney complex 'Carney complex' SubClassOf 'Mesenchymatous palpebral tumor' 'Carney complex' SubClassOf 'Multiple polyglandular tumor' 'Carney complex' SubClassOf 'Palpebral lentiginosis' 'Carney complex' SubClassOf 'Genetic cardiac tumor' 'Carney complex' SubClassOf 'Genetic hyperpigmentation of the skin' http://www.orpha.net/ORDO/Orphanet_1373 Cataract - aberrant oral frenula - growth delay 'Cataract - aberrant oral frenula - growth delay' SubClassOf 'Syndromic cataract' 'Cataract - aberrant oral frenula - growth delay' SubClassOf http://purl.obolibrary.org/obo/MONDO_0022672 http://www.ebi.ac.uk/efo/EFO_1000185 Colon Juvenile Polyp 'Colon Juvenile Polyp' SubClassOf 'colonic neoplasm' http://www.ebi.ac.uk/efo/EFO_1000195 Colorectal Neuroendocrine Tumor G1 'Colorectal Neuroendocrine Tumor G1' SubClassOf 'colonic neoplasm' http://www.ebi.ac.uk/efo/EFO_1000193 Colorectal Hamartoma 'Colorectal Hamartoma' SubClassOf 'colonic neoplasm' 'Colorectal Hamartoma' SubClassOf 'colorectal neoplasm' http://www.orpha.net/ORDO/Orphanet_1331 Familial prostate cancer 'Familial prostate cancer' SubClassOf 'Rare genetic urogenital disease' http://purl.obolibrary.org/obo/UBERON_0002509 mesenteric lymph node 'mesenteric lymph node' SubClassOf 'part_of' some 'anatomical system' 'mesenteric lymph node' SubClassOf 'part_of' some 'trunk' http://purl.obolibrary.org/obo/UBERON_0002314 midbrain tectum 'midbrain tectum' SubClassOf 'part_of' some 'nervous system' http://www.ebi.ac.uk/efo/EFO_1000354 Malignant Laryngeal Neoplasm 'Malignant Laryngeal Neoplasm' SubClassOf 'laryngeal neoplasm' 'Malignant Laryngeal Neoplasm' SubClassOf 'respiratory system cancer' 'Malignant Laryngeal Neoplasm' SubClassOf 'laryngeal neoplasm' http://www.ebi.ac.uk/efo/EFO_1000353 Malignant Jugulotympanic Paraganglioma 'Malignant Jugulotympanic Paraganglioma' SubClassOf 'neuroendocrine carcinoma' http://www.ebi.ac.uk/efo/EFO_1000350 Malignant Bone Neoplasm 'Malignant Bone Neoplasm' SubClassOf 'bone neoplasm' 'Malignant Bone Neoplasm' SubClassOf 'connective tissue cancer' 'Malignant Bone Neoplasm' SubClassOf 'bone neoplasm' http://www.ebi.ac.uk/efo/EFO_1000367 Mediastinal Neuroblastoma 'Mediastinal Neuroblastoma' SubClassOf 'central nervous system cancer' http://www.ebi.ac.uk/efo/EFO_1000389 Myofibroma 'Myofibroma' SubClassOf 'fibroma' http://www.ebi.ac.uk/efo/EFO_1000388 Myelodysplastic/Myeloproliferative Neoplasm 'Myelodysplastic/Myeloproliferative Neoplasm' SubClassOf 'myeloproliferative disorder' http://www.ebi.ac.uk/efo/EFO_1000383 Mixed Somatotroph-Lactotroph Pituitary Gland Adenoma 'Mixed Somatotroph-Lactotroph Pituitary Gland Adenoma' SubClassOf 'endocrine neoplasm' 'Mixed Somatotroph-Lactotroph Pituitary Gland Adenoma' SubClassOf 'brain neoplasm' 'Mixed Somatotroph-Lactotroph Pituitary Gland Adenoma' SubClassOf 'central nervous system disease' 'Mixed Somatotroph-Lactotroph Pituitary Gland Adenoma' SubClassOf 'endocrine system disease' http://www.ebi.ac.uk/efo/EFO_1000384 Mixed Tumor of the Salivary Gland 'Mixed Tumor of the Salivary Gland' SubClassOf 'digestive system neoplasm' http://www.ebi.ac.uk/efo/EFO_0002913 Cutaneous T-cell lymphoma 'Cutaneous T-cell lymphoma' SubClassOf 'non-Hodgkins lymphoma' http://www.ebi.ac.uk/efo/EFO_0002916 esophageal carcinoma 'esophageal carcinoma' EquivalentTo 'carcinoma' and ('has_disease_location' some 'esophagus') 'esophageal carcinoma' SubClassOf 'carcinoma' 'esophageal carcinoma' SubClassOf 'esophageal disease' 'esophageal carcinoma' SubClassOf 'Digestive System Carcinoma' 'esophageal carcinoma' SubClassOf 'esophageal cancer' 'esophageal carcinoma' SubClassOf 'has_disease_location' some 'esophagus' http://www.ebi.ac.uk/efo/EFO_1000398 Non-Functional Pancreatic Neuroendocrine Tumor 'Non-Functional Pancreatic Neuroendocrine Tumor' SubClassOf 'endocrine neoplasm' http://www.ebi.ac.uk/efo/EFO_0002937 lymphoma or leukaemia cell line 'lymphoma or leukaemia cell line' SubClassOf 'cancer cell line' 'lymphoma or leukaemia cell line' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0002939 medulloblastoma 'medulloblastoma' SubClassOf 'central nervous system cancer' http://purl.obolibrary.org/obo/UBERON_0014371 future telencephalon 'future telencephalon' SubClassOf 'embryonic structure' http://www.ebi.ac.uk/efo/EFO_0000305 breast carcinoma 'breast carcinoma' EquivalentTo 'carcinoma' and ('has_disease_location' some ('breast' or ('part_of' some 'breast'))) http://www.ebi.ac.uk/efo/EFO_0000333 chondrosarcoma 'chondrosarcoma' SubClassOf 'bone neoplasm' 'chondrosarcoma' SubClassOf 'bone disease' 'chondrosarcoma' SubClassOf 'hereditary connective tissue disorder' http://www.ebi.ac.uk/efo/EFO_0000339 chronic myelogenous leukemia 'chronic myelogenous leukemia' SubClassOf 'myeloproliferative disorder' http://www.ebi.ac.uk/efo/EFO_1000310 Juvenile Polyp 'Juvenile Polyp' SubClassOf 'stomach neoplasm' http://www.ebi.ac.uk/efo/EFO_1000311 Juvenile Xanthogranuloma 'Juvenile Xanthogranuloma' SubClassOf 'neoplasm' http://www.ebi.ac.uk/efo/EFO_0000326 central nervous system cancer 'central nervous system cancer' EquivalentTo 'cancer' and ('has_disease_location' some ('central nervous system' or ('part_of' some 'central nervous system'))) 'central nervous system cancer' SubClassOf 'has_disease_location' some ('central nervous system' or ('part_of' some 'central nervous system')) http://www.ebi.ac.uk/efo/EFO_1000318 Langerhans Cell Histiocytosis 'Langerhans Cell Histiocytosis' SubClassOf 'myeloid neoplasm' http://www.ebi.ac.uk/efo/EFO_1000321 Leydig Cell Tumor 'Leydig Cell Tumor' SubClassOf 'endocrine neoplasm' 'Leydig Cell Tumor' SubClassOf 'endocrine system disease' http://purl.obolibrary.org/obo/UBERON_0002370 thymus 'thymus' SubClassOf 'part_of' some 'endocrine system' http://www.ebi.ac.uk/efo/EFO_1000325 Liver Neuroendocrine Tumor 'Liver Neuroendocrine Tumor' SubClassOf 'liver neoplasm' 'Liver Neuroendocrine Tumor' SubClassOf 'endocrine neoplasm' 'Liver Neuroendocrine Tumor' SubClassOf 'liver disease' http://purl.obolibrary.org/obo/UBERON_0002374 metacarpal bone 'metacarpal bone' SubClassOf 'part_of' some 'limb' 'metacarpal bone' SubClassOf 'part_of' some 'forelimb' http://purl.obolibrary.org/obo/UBERON_0002376 cranial muscle 'cranial muscle' SubClassOf 'part_of' some 'head' http://www.ebi.ac.uk/efo/EFO_1000339 Lymphangiosarcoma 'Lymphangiosarcoma' SubClassOf 'lymphatic system disease' http://www.ebi.ac.uk/efo/EFO_1000337 Lung Sclerosing Hemangioma 'Lung Sclerosing Hemangioma' SubClassOf 'adenoma' http://purl.obolibrary.org/obo/MONDO_0021439 benign neoplasm of pituitary gland 'benign neoplasm of pituitary gland' SubClassOf 'benign neoplasm of brain' 'benign neoplasm of pituitary gland' SubClassOf 'Benign Brain 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://www.orpha.net/ORDO/Orphanet_1248 Maxillonasal dysplasia 'Maxillonasal dysplasia' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Maxillonasal dysplasia' SubClassOf 'Syndrome or malformation associated with head and neck malformations' http://purl.obolibrary.org/obo/MONDO_0021499 benign neoplasm of cerebellum 'benign neoplasm of cerebellum' SubClassOf 'benign neoplasm of brain' 'benign neoplasm of cerebellum' SubClassOf 'Benign Brain Neoplasm' 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 'Disorder of peroxisomal alpha-, beta- and omega-oxidation' http://purl.obolibrary.org/obo/UBERON_0004851 aorta endothelium 'aorta endothelium' SubClassOf 'part_of' some 'cardiovascular system' http://purl.obolibrary.org/obo/HP_0100033 Tics 'Tics' SubClassOf 'Abnormal central motor function' http://purl.obolibrary.org/obo/UBERON_0004880 chordamesoderm 'chordamesoderm' SubClassOf 'part_of' some 'embryo' 'chordamesoderm' SubClassOf 'embryonic structure' http://www.ebi.ac.uk/efo/EFO_1000018 bladder disease 'bladder disease' SubClassOf 'disorder by anatomical region' http://www.ebi.ac.uk/efo/EFO_0000613 myxoid liposarcoma 'myxoid liposarcoma' SubClassOf 'Genetic soft tissue tumor' 'myxoid liposarcoma' SubClassOf 'hereditary connective tissue disorder' http://www.ebi.ac.uk/efo/EFO_0000630 oligoastrocytoma 'oligoastrocytoma' SubClassOf 'low grade astrocytic tumor' http://www.ebi.ac.uk/efo/EFO_0000637 osteosarcoma 'osteosarcoma' SubClassOf 'bone neoplasm' 'osteosarcoma' SubClassOf 'bone disease' http://www.ebi.ac.uk/efo/EFO_1000057 nasal cavity squamous cell carcinoma 'nasal cavity squamous cell carcinoma' SubClassOf ('part_of' some 'nasal cavity') or ('has_disease_location' some 'nasal cavity') 'nasal cavity squamous cell carcinoma' SubClassOf 'has_disease_location' some 'nasal cavity' http://www.ebi.ac.uk/efo/EFO_1000058 nasopharyngeal squamous cell carcinoma 'nasopharyngeal squamous cell carcinoma' SubClassOf ('part_of' some 'nasopharynx') or ('has_disease_location' some 'nasopharynx') 'nasopharyngeal squamous cell carcinoma' SubClassOf 'respiratory system disease' 'nasopharyngeal squamous cell carcinoma' SubClassOf 'has_disease_location' some 'nasopharynx' http://www.ebi.ac.uk/efo/EFO_0000625 nevus 'nevus' SubClassOf 'skin neoplasm' 'nevus' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/UBERON_0002298 brainstem 'brainstem' SubClassOf 'part_of' some 'nervous system' http://purl.obolibrary.org/obo/UBERON_0002299 alveolus of lung 'alveolus of lung' SubClassOf 'part_of' some 'lung' http://www.ebi.ac.uk/efo/EFO_0000693 schwannoma 'schwannoma' SubClassOf 'tumour of cranial and spinal nerves' 'schwannoma' SubClassOf 'central nervous system cancer' http://purl.obolibrary.org/obo/UBERON_0002245 cerebellar hemisphere 'cerebellar hemisphere' SubClassOf 'part_of' some 'nervous system' http://www.orpha.net/ORDO/Orphanet_324588 Familial dyskinesia and facial myokymia 'Familial dyskinesia and facial myokymia' SubClassOf 'movement disorder' http://www.orpha.net/ORDO/Orphanet_238468 Hypohidrotic ectodermal dysplasia 'Hypohidrotic ectodermal dysplasia' SubClassOf 'head and neck neoplasia' 'Hypohidrotic ectodermal dysplasia' SubClassOf 'skin neoplasm' http://purl.obolibrary.org/obo/MONDO_0021313 eyelid cancer 'eyelid cancer' SubClassOf 'skin carcinoma' 'eyelid cancer' SubClassOf 'skin cancer' http://purl.obolibrary.org/obo/MONDO_0021348 neoplasm of testis '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_0021364 neoplasm of oropharynx 'neoplasm of oropharynx' SubClassOf 'respiratory system neoplasm' http://purl.obolibrary.org/obo/MONDO_0008387 ring dermoid of cornea 'ring dermoid of cornea' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0021358 neoplasm of hypopharynx 'neoplasm of hypopharynx' SubClassOf 'respiratory system neoplasm' http://purl.obolibrary.org/obo/MONDO_0021383 neoplasm of floor of mouth 'neoplasm of floor of mouth' SubClassOf 'mouth neoplasm' 'neoplasm of floor of mouth' SubClassOf 'digestive system neoplasm' 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 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures' SubClassOf 'X-linked syndromic intellectual disability' http://www.ebi.ac.uk/efo/EFO_1000103 Bartholin Gland Carcinoma 'Bartholin Gland Carcinoma' SubClassOf 'Bartholin gland disease' http://www.ebi.ac.uk/efo/EFO_1000107 Benign Brain Neoplasm 'Benign Brain Neoplasm' SubClassOf 'brain neoplasm' 'Benign Brain Neoplasm' SubClassOf 'brain neoplasm' 'Benign Brain Neoplasm' SubClassOf 'central nervous system organ benign neoplasm' http://purl.obolibrary.org/obo/UBERON_0004746 prootic bone 'prootic bone' SubClassOf 'part_of' some 'head' 'prootic bone' SubClassOf 'part_of' some 'cranium' 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 'benign female reproductive system neoplasm' http://purl.obolibrary.org/obo/UBERON_0004742 dentary 'dentary' SubClassOf 'part_of' some 'head' 'dentary' SubClassOf 'part_of' some 'digestive system' http://purl.obolibrary.org/obo/UBERON_0004744 articular/anguloarticular 'articular/anguloarticular' SubClassOf 'part_of' some 'digestive system' 'articular/anguloarticular' SubClassOf 'part_of' some 'head' http://purl.obolibrary.org/obo/UBERON_0004741 cleithrum 'cleithrum' SubClassOf 'part_of' some 'appendicular skeleton' http://purl.obolibrary.org/obo/UBERON_0002107 liver 'liver' SubClassOf 'part_of' some 'endocrine system' 'liver' SubClassOf 'part_of' some 'trunk' http://www.ebi.ac.uk/efo/EFO_1000139 Borderline Ovarian Serous Tumor 'Borderline Ovarian Serous Tumor' EquivalentTo 'borderline epithelial tumor of ovary' and 'ovarian serous tumor' 'Borderline Ovarian Serous Tumor' SubClassOf 'borderline epithelial tumor of ovary' 'Borderline Ovarian Serous Tumor' SubClassOf 'Borderline Ovarian Surface Epithelial-Stromal Tumor' 'Borderline Ovarian Serous Tumor' EquivalentTo 'ovarian serous tumor' and 'Borderline Ovarian Surface Epithelial-Stromal Tumor' 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 'ovarian epithelial tumor' http://www.ebi.ac.uk/efo/EFO_1000145 breast fibrosis 'breast fibrosis' SubClassOf 'breast neoplasm' http://www.ebi.ac.uk/efo/EFO_1000146 Breast Mucosa-Associated Lymphoid Tissue Lymphoma 'Breast Mucosa-Associated Lymphoid Tissue Lymphoma' SubClassOf 'Hereditary breast cancer' 'Breast Mucosa-Associated Lymphoid Tissue Lymphoma' SubClassOf 'breast disease' http://www.ebi.ac.uk/efo/EFO_1000164 Cervical Endometrioid Adenocarcinoma 'Cervical Endometrioid Adenocarcinoma' SubClassOf 'endometrium adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1000178 Chronic Eosinophilic Leukemia, Not Otherwise Specified 'Chronic Eosinophilic Leukemia, Not Otherwise Specified' SubClassOf 'myeloproliferative disorder' http://www.ebi.ac.uk/efo/EFO_1000179 Chronic Neutrophilic Leukemia 'Chronic Neutrophilic Leukemia' SubClassOf 'myeloproliferative disorder' http://www.ebi.ac.uk/efo/EFO_1000174 Chondroid Chordoma 'Chondroid Chordoma' SubClassOf 'spinal cord neoplasm' 'Chondroid Chordoma' SubClassOf 'spinal cord disease' http://www.ebi.ac.uk/efo/EFO_0000558 Kaposi's sarcoma 'Kaposi's sarcoma' SubClassOf 'skin neoplasm' http://www.ebi.ac.uk/efo/EFO_0000546 injury 'injury' SubClassOf 'disease' 'injury' SubClassOf 'disease' http://www.ebi.ac.uk/efo/EFO_0000549 insulinoma 'insulinoma' SubClassOf 'benign neoplasm' http://purl.obolibrary.org/obo/UBERON_0002186 bronchiole 'bronchiole' SubClassOf 'anatomical structure' 'bronchiole' SubClassOf 'lung structure' 'bronchiole' SubClassOf 'part_of' some 'lung' http://purl.obolibrary.org/obo/UBERON_0002113 kidney 'kidney' SubClassOf 'part_of' some 'trunk' http://purl.obolibrary.org/obo/UBERON_0002112 smooth muscle of esophagus 'smooth muscle of esophagus' SubClassOf 'part_of' some 'esophagus' http://www.ebi.ac.uk/efo/EFO_0000565 leukemia 'leukemia' SubClassOf 'lymphoid neoplasm' http://purl.obolibrary.org/obo/UBERON_0002148 locus ceruleus 'locus ceruleus' SubClassOf 'part_of' some 'brain' http://purl.obolibrary.org/obo/MONDO_0021205 disease of ear 'disease of ear' SubClassOf 'disease by anatomical system' http://purl.obolibrary.org/obo/MONDO_0023868 melanoma associated retinopathy 'melanoma associated retinopathy' SubClassOf 'cancer-associated retinopathy' 'melanoma associated retinopathy' SubClassOf 'retinopathy' http://purl.obolibrary.org/obo/MONDO_0021228 brainstem neoplasm 'brainstem neoplasm' SubClassOf 'brain neoplasm' http://purl.obolibrary.org/obo/UBERON_0002198 neurohypophysis 'neurohypophysis' SubClassOf 'part_of' some 'endocrine system' 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_0021249 lip neoplasm 'lip neoplasm' SubClassOf 'mouth neoplasm' 'lip neoplasm' SubClassOf 'digestive system neoplasm' http://purl.obolibrary.org/obo/MONDO_0021231 retina neoplasm 'retina neoplasm' SubClassOf 'nervous system neoplasm' 'retina neoplasm' SubClassOf 'eye neoplasm' 'retina neoplasm' SubClassOf 'retinopathy' 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_1000063 lactose intolerance adult type 'lactose intolerance adult type' SubClassOf 'lactose intolerance (disease)' 'lactose intolerance adult type' SubClassOf 'lactose intolerance' 'lactose intolerance adult type' SubClassOf 'lactose intolerance' http://www.ebi.ac.uk/efo/EFO_1000068 Acute Leukemia 'Acute Leukemia' SubClassOf 'acute disease' http://www.ebi.ac.uk/efo/EFO_1000069 Adamantinomatous Craniopharyngioma 'Adamantinomatous Craniopharyngioma' SubClassOf 'endocrine neoplasm' 'Adamantinomatous Craniopharyngioma' SubClassOf 'endocrine system disease' http://www.ebi.ac.uk/efo/EFO_1000065 Acinar Prostate Mucinous Adenocarcinoma 'Acinar Prostate Mucinous Adenocarcinoma' SubClassOf 'pancreatic neoplasm' 'Acinar Prostate Mucinous Adenocarcinoma' SubClassOf 'pancreas disease' http://www.ebi.ac.uk/efo/EFO_1000077 AIDS-Related Primary Central Nervous System Lymphoma 'AIDS-Related Primary Central Nervous System Lymphoma' SubClassOf 'central nervous system cancer' 'AIDS-Related Primary Central Nervous System Lymphoma' SubClassOf 'central nervous system disease' http://www.ebi.ac.uk/efo/EFO_1000075 Adrenal Gland Neuroblastoma 'Adrenal Gland Neuroblastoma' SubClassOf 'central nervous system cancer' 'Adrenal Gland Neuroblastoma' SubClassOf 'nervous system cancer' http://purl.obolibrary.org/obo/MONDO_0021250 tonsil neoplasm 'tonsil neoplasm' SubClassOf 'respiratory system neoplasm' http://www.ebi.ac.uk/efo/EFO_1000084 Angioleiomyoma 'Angioleiomyoma' SubClassOf 'integumentary system disease' http://purl.obolibrary.org/obo/MONDO_0021280 mucoepidermoid carcinoma of parotid gland 'mucoepidermoid carcinoma of parotid gland' SubClassOf 'carcinoma of parotid gland' 'mucoepidermoid carcinoma of parotid gland' SubClassOf 'Parotid Gland Carcinoma' http://www.ebi.ac.uk/efo/EFO_1000091 Appendix Hyperplastic Polyp 'Appendix Hyperplastic Polyp' SubClassOf 'polyp of colon' 'Appendix Hyperplastic Polyp' SubClassOf 'polyp of large intestine' http://purl.obolibrary.org/obo/UBERON_0004801 cervix epithelium 'cervix epithelium' SubClassOf 'part_of' some 'oviduct' http://purl.obolibrary.org/obo/MONDO_0045070 digestive system melanoma 'digestive system melanoma' SubClassOf 'neuroendocrine carcinoma' 'digestive system melanoma' SubClassOf 'malignant endocrine neoplasm' http://www.orpha.net/ORDO/Orphanet_59305 Gestational trophoblastic neoplasm 'Gestational trophoblastic neoplasm' SubClassOf 'Rare genetic gynecological and obstetrical diseases' http://www.orpha.net/ORDO/Orphanet_50944 Schöpf-Schulz-Passarge syndrome 'Schöpf-Schulz-Passarge syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Schöpf-Schulz-Passarge syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100358 http://www.ebi.ac.uk/efo/EFO_0009259 skin carcinoma 'skin carcinoma' EquivalentTo 'carcinoma' and ('has_disease_location' some ('zone of skin' or ('part_of' some 'zone of skin'))) 'skin carcinoma' SubClassOf 'has_disease_location' some ('zone of skin' or ('part_of' some 'zone of skin')) http://www.ebi.ac.uk/efo/EFO_0009254 optic nerve glioblastoma 'optic nerve glioblastoma' SubClassOf 'tumour of cranial and spinal nerves' 'optic nerve glioblastoma' SubClassOf 'glioblastoma multiforme' http://purl.obolibrary.org/obo/HP_0002169 Clonus 'Clonus' SubClassOf 'Abnormal central motor function' http://purl.obolibrary.org/obo/MONDO_0021117 lung neoplasm 'lung neoplasm' SubClassOf 'respiratory tract neoplasm' 'lung neoplasm' SubClassOf 'respiratory system neoplasm' http://purl.obolibrary.org/obo/MONDO_0008170 ovarian cancer 'ovarian cancer' SubClassOf 'female reproductive organ cancer' 'ovarian cancer' SubClassOf 'Genital neoplasm, female' http://purl.obolibrary.org/obo/MONDO_0021133 acquired factor XIII deficiency 'acquired factor XIII deficiency' SubClassOf 'Congenital factor XIII deficiency' 'acquired factor XIII deficiency' SubClassOf 'factor XIII deficiency' http://purl.obolibrary.org/obo/MONDO_0021138 bone marrow cancer 'bone marrow cancer' SubClassOf 'bone cancer' 'bone marrow cancer' SubClassOf 'Malignant Bone Neoplasm' http://purl.obolibrary.org/obo/MONDO_0021164 posthitis 'posthitis' SubClassOf 'disorder by anatomical region' http://purl.obolibrary.org/obo/UBERON_0000317 colonic mucosa 'colonic mucosa' SubClassOf 'part_of' some 'alimentary part of gastrointestinal system' 'colonic mucosa' SubClassOf 'part_of' some 'intestine' 'colonic mucosa' SubClassOf 'part_of' some 'large intestine' http://purl.obolibrary.org/obo/MONDO_0021187 hyperlipidemia (disease) 'hyperlipidemia (disease)' SubClassOf 'metabolic disease' http://purl.obolibrary.org/obo/MONDO_0021192 odontogenic neoplasm 'odontogenic neoplasm' SubClassOf 'mouth neoplasm' 'odontogenic neoplasm' SubClassOf 'digestive system neoplasm' http://www.ebi.ac.uk/efo/EFO_0000702 small cell lung carcinoma 'small cell lung carcinoma' SubClassOf 'Genetic endocrine tumor' http://www.ebi.ac.uk/efo/EFO_0000707 squamous cell carcinoma 'squamous cell carcinoma' SubClassOf 'keratinocyte carcinoma' http://www.orpha.net/ORDO/Orphanet_86819 Atrichia with papular lesions 'Atrichia with papular lesions' SubClassOf 'Alopecia' 'Atrichia with papular lesions' SubClassOf 'Alopecia' http://www.orpha.net/ORDO/Orphanet_86812 Autosomal recessive limb-girdle muscular dystrophy type 2K 'Autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700070 http://www.orpha.net/ORDO/Orphanet_86817 Hemolytic anemia due to adenylate kinase deficiency 'Hemolytic anemia due to adenylate kinase deficiency' SubClassOf 'familial hemolytic anemia' 'Hemolytic anemia due to adenylate kinase deficiency' SubClassOf 'Disorder of purine or pyrimidine metabolism' http://purl.obolibrary.org/obo/UBERON_0000115 lung epithelium 'lung epithelium' SubClassOf 'part_of' some 'respiratory tract' http://www.ebi.ac.uk/efo/EFO_0000756 melanoma 'melanoma' SubClassOf 'skin carcinoma' http://www.ebi.ac.uk/efo/EFO_0000763 viral disease 'viral disease' DisjointWith 'urinary tract infection' http://purl.obolibrary.org/obo/MONDO_0005247 DisjointWith 'viral disease' http://www.ebi.ac.uk/efo/EFO_0000767 idiopathic cardiomyopathy 'idiopathic cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700007 'idiopathic cardiomyopathy' EquivalentTo 'cardiomyopathy' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0700005) http://www.ebi.ac.uk/efo/EFO_0009118 female reproductive endometrioid cancer 'female reproductive endometrioid cancer' SubClassOf 'female reproductive system neoplasm' 'female reproductive endometrioid cancer' SubClassOf 'epithelial neoplasm' 'female reproductive endometrioid cancer' SubClassOf 'female reproductive system disease' http://www.ebi.ac.uk/efo/EFO_0009119 precursor lymphoblastic lymphoma/leukemia 'precursor lymphoblastic lymphoma/leukemia' SubClassOf 'leukemia' http://www.orpha.net/ORDO/Orphanet_98813 Hypohidrotic ectodermal dysplasia with immunodeficiency 'Hypohidrotic ectodermal dysplasia with immunodeficiency' SubClassOf 'Other immunodeficiency syndromes due to defects in innate immunity' http://www.orpha.net/ORDO/Orphanet_3375 Trisomy X 'Trisomy X' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700065 http://purl.obolibrary.org/obo/UBERON_0012170 core of nucleus accumbens 'core of nucleus accumbens' SubClassOf 'part_of' some 'nervous system' http://purl.obolibrary.org/obo/UBERON_0012171 shell of nucleus accumbens 'shell of nucleus accumbens' SubClassOf 'part_of' some 'nervous system' http://www.ebi.ac.uk/efo/EFO_0009068 dicer1 syndrome 'dicer1 syndrome' SubClassOf 'pulmonary blastoma' http://purl.obolibrary.org/obo/HP_0002094 Dyspnea 'Dyspnea' SubClassOf 'Abnormality of the respiratory system' 'Dyspnea' SubClassOf 'Abnormal pattern of respiration' http://www.ebi.ac.uk/efo/EFO_0009082 Pilomatrixoma 'Pilomatrixoma' SubClassOf 'skin neoplasm' 'Pilomatrixoma' SubClassOf 'hair follicle neoplasm' http://purl.obolibrary.org/obo/MONDO_0011688 muscular dystrophy-dystroglycanopathy type B5 'muscular dystrophy-dystroglycanopathy type B5' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700066 http://purl.obolibrary.org/obo/MONDO_0060627 glycosylphosphatidylinositol biosynthesis defect 15 'glycosylphosphatidylinositol biosynthesis defect 15' SubClassOf 'Congenital disorder of glycosylation' 'glycosylphosphatidylinositol biosynthesis defect 15' SubClassOf 'disorder of GPI anchor biosynthesis' 'glycosylphosphatidylinositol biosynthesis defect 15' SubClassOf 'Rare syndromic dyslipidemia' 'glycosylphosphatidylinositol biosynthesis defect 15' SubClassOf 'Developmental anomaly of metabolic origin' http://www.orpha.net/ORDO/Orphanet_309796 Rhizomelic chondrodysplasia punctata type 2 'Rhizomelic chondrodysplasia punctata type 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100273 http://purl.obolibrary.org/obo/UBERON_0000204 ventral part of telencephalon 'ventral part of telencephalon' SubClassOf 'part_of' some 'nervous system' http://purl.obolibrary.org/obo/UBERON_0000203 pallium 'pallium' SubClassOf 'part_of' some 'nervous system' http://purl.obolibrary.org/obo/MONDO_0021065 pleural neoplasm 'pleural neoplasm' SubClassOf 'respiratory tract neoplasm' 'pleural neoplasm' SubClassOf 'respiratory system neoplasm' http://purl.obolibrary.org/obo/MONDO_0021054 bone sarcoma 'bone sarcoma' SubClassOf 'bone cancer' 'bone sarcoma' SubClassOf 'Malignant Bone Neoplasm' http://www.orpha.net/ORDO/Orphanet_141145 Hemifacial hypertrophy 'Hemifacial hypertrophy' SubClassOf 'Macroglossia' 'Hemifacial hypertrophy' SubClassOf 'Overgrowth syndrome' 'Hemifacial hypertrophy' SubClassOf 'Macroglossia' http://www.orpha.net/ORDO/Orphanet_309789 Rhizomelic chondrodysplasia punctata type 1 'Rhizomelic chondrodysplasia punctata type 1' SubClassOf 'Peroxisome biogenesis disorder-Zellweger syndrome spectrum' 'Rhizomelic chondrodysplasia punctata type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100272 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 'peripheral nervous system neoplasm' 'peripheral nervous system cancer' SubClassOf 'tumour of cranial and spinal nerves' 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' 'radiation or chemically induced disorder' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/UBERON_0000022 feather 'feather' SubClassOf 'part_of' some 'multicellular organism' http://purl.obolibrary.org/obo/UBERON_0002691 ventral tegmental area 'ventral tegmental area' SubClassOf 'part_of' some 'nervous system' 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 'syndromic intellectual disability' 'Hypotonia-speech impairment-severe cognitive delay syndrome' SubClassOf 'congenital nervous system disorder' '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' http://www.ebi.ac.uk/efo/EFO_0009448 pulmonary fibrosis 'pulmonary fibrosis' SubClassOf 'respiratory system neoplasm' http://www.ebi.ac.uk/efo/EFO_0009430 neuralgia 'neuralgia' SubClassOf 'disorder involving pain' 'neuralgia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700057 http://www.ebi.ac.uk/efo/EFO_0009488 spinal cord disease 'spinal cord disease' SubClassOf 'disorder by anatomical region' http://purl.obolibrary.org/obo/UBERON_0000059 large intestine 'large intestine' SubClassOf 'part_of' some 'anatomical system' 'large intestine' SubClassOf 'part_of' some 'digestive system' http://purl.obolibrary.org/obo/UBERON_0000056 ureter 'ureter' SubClassOf 'part_of' some 'upper urinary tract' 'ureter' SubClassOf 'part_of' some 'renal system' 'ureter' SubClassOf 'part_of' some 'trunk' 'ureter' SubClassOf 'part_of' some 'anatomical system' http://www.orpha.net/ORDO/Orphanet_1074 Ankyloblepharon filiforme - imperforate anus 'Ankyloblepharon filiforme - imperforate anus' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Ankyloblepharon filiforme - imperforate anus' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 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 'Syndrome or malformation associated with head and neck malformations' http://purl.obolibrary.org/obo/UBERON_0000087 inner cell mass 'inner cell mass' SubClassOf 'part_of' some 'embryo' http://www.orpha.net/ORDO/Orphanet_1150 Arthrogryposis multiplex congenita - whistling face 'Arthrogryposis multiplex congenita - whistling face' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Arthrogryposis multiplex congenita - whistling face' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 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 http://purl.obolibrary.org/obo/MONDO_0700002 http://www.orpha.net/ORDO/Orphanet_1117 Aplasia cutis - myopia 'Aplasia cutis - myopia' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0011577 myopathy, proximal, and ophthalmoplegia 'myopathy, proximal, and ophthalmoplegia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/UBERON_0002524 mediastinal lymph node 'mediastinal lymph node' SubClassOf 'part_of' some 'anatomical system' 'mediastinal lymph node' SubClassOf 'part_of' some 'trunk' http://purl.obolibrary.org/obo/UBERON_0002538 hatching gland 'hatching gland' SubClassOf 'part_of' some 'embryo' http://purl.obolibrary.org/obo/UBERON_0002531 paired fin bud 'paired fin bud' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0002533 post-anal tail bud 'post-anal tail bud' SubClassOf 'embryonic structure' http://www.ebi.ac.uk/efo/EFO_0009361 colorectal mucinous adenocarcinoma 'colorectal mucinous adenocarcinoma' SubClassOf 'colonic neoplasm' http://www.orpha.net/ORDO/Orphanet_263746 Y chromosome number anomaly 'Y chromosome number anomaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700064 http://www.orpha.net/ORDO/Orphanet_1052 Mosaic variegated aneuploidy syndrome 'Mosaic variegated aneuploidy syndrome' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0700062 http://www.orpha.net/ORDO/Orphanet_275777 Heritable pulmonary arterial hypertension 'Heritable pulmonary arterial hypertension' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700007 http://www.orpha.net/ORDO/Orphanet_263714 X chromosome number anomaly 'X chromosome number anomaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700064 http://purl.obolibrary.org/obo/MONDO_0004116 esophageal small cell neuroendocrine carcinoma 'esophageal small cell neuroendocrine carcinoma' SubClassOf 'carcinoma of esophagus' 'esophageal small cell neuroendocrine carcinoma' SubClassOf 'esophageal carcinoma' http://www.orpha.net/ORDO/Orphanet_73 Gorham-Stout disease 'Gorham-Stout disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003157 http://www.orpha.net/ORDO/Orphanet_228000 Idiopathic CD4 lymphocytopenia 'Idiopathic CD4 lymphocytopenia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700007 http://purl.obolibrary.org/obo/MONDO_0043786 serositis 'serositis' SubClassOf 'disease by anatomical system' http://www.orpha.net/ORDO/Orphanet_43 X-linked adrenoleukodystrophy 'X-linked adrenoleukodystrophy' SubClassOf 'Peroxisomal beta-oxidation disorder' 'X-linked adrenoleukodystrophy' DisjointWith 'Neonatal adrenoleukodystrophy' 'X-linked adrenoleukodystrophy' SubClassOf 'Peroxisomal beta-oxidation disorder' 'X-linked adrenoleukodystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100372 http://www.orpha.net/ORDO/Orphanet_44 Neonatal adrenoleukodystrophy 'Neonatal adrenoleukodystrophy' SubClassOf 'peroxisomal disease with epilepsy' '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' 'X-linked adrenoleukodystrophy' DisjointWith 'Neonatal adrenoleukodystrophy' 'Neonatal adrenoleukodystrophy' SubClassOf 'eye degenerative disease' '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' http://purl.obolibrary.org/obo/MONDO_0016167 optic pathway glioma 'optic pathway glioma' SubClassOf 'urogenital neoplasm' http://www.orpha.net/ORDO/Orphanet_29 Mevalonic aciduria 'Mevalonic aciduria' SubClassOf 'Peroxisomal disease' 'Mevalonic aciduria' SubClassOf 'Mevalonate kinase deficiency' 'Mevalonic aciduria' SubClassOf 'congenital nervous system disorder' 'Mevalonic aciduria' SubClassOf 'Mevalonate kinase deficiency' http://www.ebi.ac.uk/efo/EFO_0002113 BDCM 'BDCM' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0002117 BM1604 'BM1604' SubClassOf 'cancer cell line' 'BM1604' SubClassOf 'prostate cancer cell line' http://www.ebi.ac.uk/efo/EFO_0002130 CESS 'CESS' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0002136 COLO320DM 'COLO320DM' SubClassOf 'colonic cancer cell line' http://www.ebi.ac.uk/efo/EFO_0002135 COLO201 'COLO201' SubClassOf 'colonic cancer cell line' http://www.ebi.ac.uk/efo/EFO_0002137 COLO320HSR 'COLO320HSR' SubClassOf 'colonic cancer cell line' http://www.ebi.ac.uk/efo/EFO_0002156 D283Med 'D283Med' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0002158 DB 'DB' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0002157 D341Med 'D341Med' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0002147 CaHPV10 'CaHPV10' SubClassOf 'cancer cell line' 'CaHPV10' SubClassOf 'prostate cancer cell line' http://purl.obolibrary.org/obo/UBERON_0009115 thoracic thymus 'thoracic thymus' SubClassOf 'part_of' some 'anatomical system' 'thoracic thymus' SubClassOf 'part_of' some 'trunk' http://purl.obolibrary.org/obo/UBERON_0009122 adenohypophyseal placode 'adenohypophyseal placode' SubClassOf 'embryonic structure' http://www.ebi.ac.uk/efo/EFO_0002194 HH 'HH' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0002196 HOS 'HOS' SubClassOf 'cancer cell line' 'HOS' SubClassOf 'osteosarcoma cell line' http://www.ebi.ac.uk/efo/EFO_0002189 HCT8 'HCT8' SubClassOf 'colonic cancer cell line' http://www.orpha.net/ORDO/Orphanet_363623 Autosomal recessive limb-girdle muscular dystrophy type 2T 'Autosomal recessive limb-girdle muscular dystrophy type 2T' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700084 http://purl.obolibrary.org/obo/MONDO_0004033 familial ovarian carcinoma 'familial ovarian carcinoma' SubClassOf 'Genetic gynecological tumor' 'familial ovarian carcinoma' SubClassOf 'Familial ovarian cancer' 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 'Genetic endocrine tumor' http://purl.obolibrary.org/obo/MONDO_0016093 borderline epithelial tumor of ovary 'borderline epithelial tumor of ovary' SubClassOf 'ovarian epithelial tumor' http://www.orpha.net/ORDO/Orphanet_206554 Autosomal recessive limb-girdle muscular dystrophy type 2M 'Autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700067 http://www.orpha.net/ORDO/Orphanet_206559 Autosomal recessive limb-girdle muscular dystrophy type 2N 'Autosomal recessive limb-girdle muscular dystrophy type 2N' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700071 http://www.orpha.net/ORDO/Orphanet_206564 Autosomal recessive limb-girdle muscular dystrophy type 2O 'Autosomal recessive limb-girdle muscular dystrophy type 2O' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700068 http://www.ebi.ac.uk/efo/EFO_0002052 EcR-RKO/KLF4 'EcR-RKO/KLF4' SubClassOf 'colonic cancer cell line' http://www.ebi.ac.uk/efo/EFO_0002044 BC-1 'BC-1' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0002046 BC-3 'BC-3' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0002071 LNCAP 'LNCAP' SubClassOf 'cancer cell line' 'LNCAP' SubClassOf 'prostate cancer cell line' http://www.ebi.ac.uk/efo/EFO_0002095 22Rv1 '22Rv1' SubClassOf 'cancer cell line' '22Rv1' SubClassOf 'prostate cancer cell line' http://www.ebi.ac.uk/efo/EFO_0002084 T84 'T84' SubClassOf 'colonic cancer cell line' http://www.ebi.ac.uk/efo/EFO_0002083 SW480 'SW480' SubClassOf 'colonic cancer cell line' http://purl.obolibrary.org/obo/UBERON_0000451 prefrontal cortex 'prefrontal cortex' SubClassOf 'part_of' some 'nervous system' 'prefrontal cortex' SubClassOf 'part_of' some 'cerebral cortex' http://www.ebi.ac.uk/efo/EFO_1000884 cranial nerve malignant neoplasm 'cranial nerve malignant neoplasm' SubClassOf 'head and neck malignant neoplasia' 'cranial nerve malignant neoplasm' SubClassOf 'cranial nerve neoplasm' 'cranial nerve malignant neoplasm' SubClassOf 'peripheral nervous system cancer' http://www.ebi.ac.uk/efo/EFO_1000886 cutaneous mastocytosis 'cutaneous mastocytosis' SubClassOf 'genetic skin disease' 'cutaneous mastocytosis' SubClassOf 'skin neoplasm' 'cutaneous mastocytosis' SubClassOf 'Genetic skin tumor' http://www.ebi.ac.uk/efo/EFO_0002313 PLB985 'PLB985' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0002316 RDES 'RDES' SubClassOf 'cancer cell line' 'RDES' SubClassOf 'osteosarcoma cell line' http://www.ebi.ac.uk/efo/EFO_0002318 RKOE6 'RKOE6' SubClassOf 'colonic cancer cell line' http://www.ebi.ac.uk/efo/EFO_0002317 REC1 'REC1' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0002301 NCI-H716 'NCI-H716' SubClassOf 'colonic cancer cell line' http://www.ebi.ac.uk/efo/EFO_0002303 NCI-H747 'NCI-H747' SubClassOf 'colonic cancer cell line' http://www.ebi.ac.uk/efo/EFO_0002330 SJSA1 'SJSA1' SubClassOf 'cancer cell line' 'SJSA1' SubClassOf 'osteosarcoma cell line' http://www.ebi.ac.uk/efo/EFO_0004986 embryonal carcinoma 'embryonal carcinoma' SubClassOf 'carcinoma' http://www.ebi.ac.uk/efo/EFO_0002356 SUDHL5 'SUDHL5' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0002355 SUDHL16 'SUDHL16' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0002359 SW1116 'SW1116' SubClassOf 'colonic cancer cell line' http://www.ebi.ac.uk/efo/EFO_0002372 SW837 'SW837' SubClassOf 'colonic cancer cell line' http://www.ebi.ac.uk/efo/EFO_0002375 SW948 'SW948' SubClassOf 'colonic cancer cell line' http://www.ebi.ac.uk/efo/EFO_1000849 bronchial neoplasm 'bronchial neoplasm' SubClassOf 'bronchial disease' 'bronchial neoplasm' SubClassOf 'bronchial disease' 'bronchial neoplasm' SubClassOf 'neoplasm of thorax' http://www.ebi.ac.uk/efo/EFO_0002361 SW1417 'SW1417' SubClassOf 'colonic cancer cell line' http://www.ebi.ac.uk/efo/EFO_0002360 SW1353 'SW1353' SubClassOf 'cancer cell line' 'SW1353' SubClassOf 'osteosarcoma cell line' http://www.ebi.ac.uk/efo/EFO_0002362 SW1463 'SW1463' SubClassOf 'colonic cancer cell line' http://www.ebi.ac.uk/efo/EFO_1000852 carcinoid syndrome 'carcinoid syndrome' SubClassOf 'carcinoid tumor' 'carcinoid syndrome' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0002367 SW48 'SW48' SubClassOf 'colonic cancer cell line' http://www.ebi.ac.uk/efo/EFO_0002366 SW403 'SW403' SubClassOf 'colonic cancer cell line' http://www.ebi.ac.uk/efo/EFO_0002368 SW620 'SW620' SubClassOf 'colonic cancer cell line' http://www.orpha.net/ORDO/Orphanet_79665 Gardner syndrome 'Gardner syndrome' SubClassOf 'Malformation syndrome with hamartosis' 'Gardner syndrome' SubClassOf 'Palpebral sebaceous gland tumor' 'Gardner syndrome' SubClassOf 'Genetic skin tumor' 'Gardner syndrome' SubClassOf 'eye neoplasm' http://www.ebi.ac.uk/efo/EFO_0002383 Toledo 'Toledo' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0002389 WIDR 'WIDR' SubClassOf 'colonic cancer cell line' http://purl.obolibrary.org/obo/UBERON_0000382 apocrine sweat gland 'apocrine sweat gland' SubClassOf 'part_of' some 'skin epidermis' http://purl.obolibrary.org/obo/UBERON_0000369 corpus striatum 'corpus striatum' SubClassOf 'part_of' some 'nervous system' http://www.ebi.ac.uk/efo/EFO_1000998 jejunal cancer 'jejunal cancer' SubClassOf 'small intestine carcinoma' http://www.ebi.ac.uk/efo/EFO_0004906 lymph node metastatic carcinoma 'lymph node metastatic carcinoma' SubClassOf 'carcinoma' http://purl.obolibrary.org/obo/MONDO_0018452 deficiency of the interleukin-36 receptor antagonist 'deficiency of the interleukin-36 receptor antagonist' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'deficiency of the interleukin-36 receptor antagonist' SubClassOf 'pyogenic autoinflammatory syndrome' 'deficiency of the interleukin-36 receptor antagonist' SubClassOf 'Autoinflammatory syndrome with immune deficiency' 'deficiency of the interleukin-36 receptor antagonist' SubClassOf 'autoinflammatory syndrome with skin involvement' 'deficiency of the interleukin-36 receptor antagonist' 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 'DNA repair deficiency' 'DNA repair defect other than combined T-cell and B-cell immunodeficiencies' SubClassOf 'syndrome with combined immunodeficiency' http://www.ebi.ac.uk/efo/EFO_1000903 drug-induced akathisia 'drug-induced akathisia' SubClassOf 'chemically-induced disorder' http://www.ebi.ac.uk/efo/EFO_1000904 drug-Induced dyskinesia 'drug-Induced dyskinesia' SubClassOf 'chemically-induced disorder' http://www.ebi.ac.uk/efo/EFO_1000912 eccrine acrospiroma 'eccrine acrospiroma' SubClassOf 'neoplasm' and ('has_disease_location' some 'eccrine sweat gland') 'eccrine acrospiroma' SubClassOf 'has_disease_location' some 'eccrine sweat gland' http://www.ebi.ac.uk/efo/EFO_0002219 KHOS240S 'KHOS240S' SubClassOf 'cancer cell line' 'KHOS240S' SubClassOf 'osteosarcoma cell line' http://www.ebi.ac.uk/efo/EFO_1000925 epithelioid and spindle cell nevus 'epithelioid and spindle cell nevus' SubClassOf 'melanoma' http://www.ebi.ac.uk/efo/EFO_0002218 KG1 'KG1' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_1000926 Erdheim-Chester disease 'Erdheim-Chester disease' SubClassOf 'histiocytoma' http://www.ebi.ac.uk/efo/EFO_0002233 MESSA 'MESSA' SubClassOf 'uterine leiomyosarcoma cell line' 'MESSA' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0002235 MHHPREB1 'MHHPREB1' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0002234 MG63 'MG63' SubClassOf 'cancer cell line' 'MG63' SubClassOf 'osteosarcoma cell line' http://www.ebi.ac.uk/efo/EFO_0002238 ML2 'ML2' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0002226 LS1034 'LS1034' SubClassOf 'colonic cancer cell line' http://www.ebi.ac.uk/efo/EFO_0002227 LS174T 'LS174T' SubClassOf 'colonic cancer cell line' http://www.ebi.ac.uk/efo/EFO_0002242 MV4II 'MV4II' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0002248 NCI-H1048 'NCI-H1048' SubClassOf 'cancer cell line' http://purl.obolibrary.org/obo/UBERON_0000411 visual cortex 'visual cortex' SubClassOf 'part_of' some 'nervous system' 'visual cortex' SubClassOf 'part_of' some 'occipital lobe' 'visual cortex' SubClassOf 'part_of' some 'cerebral cortex' http://purl.obolibrary.org/obo/UBERON_0000423 eccrine sweat gland 'eccrine sweat gland' SubClassOf 'part_of' some 'skin epidermis' http://www.ebi.ac.uk/efo/EFO_0002294 NCI-H508 'NCI-H508' SubClassOf 'colonic cancer cell line' http://www.ebi.ac.uk/efo/EFO_0002297 NCI-H630 'NCI-H630' SubClassOf 'colonic cancer cell line' http://purl.obolibrary.org/obo/UBERON_0000446 septum of telencephalon 'septum of telencephalon' SubClassOf 'part_of' some 'telencephalon' 'septum of telencephalon' SubClassOf 'part_of' some 'central nervous system' 'septum of telencephalon' SubClassOf 'part_of' some 'brain' 'septum of telencephalon' SubClassOf 'part_of' some 'forebrain' http://www.orpha.net/ORDO/Orphanet_1711 Mosaic trisomy 17 'Mosaic trisomy 17' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0700062 http://www.orpha.net/ORDO/Orphanet_1708 Mosaic trisomy 16 'Mosaic trisomy 16' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0700062 http://www.orpha.net/ORDO/Orphanet_1706 Mosaic trisomy 15 'Mosaic trisomy 15' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0700062 http://www.orpha.net/ORDO/Orphanet_1703 Mosaic trisomy 14 'Mosaic trisomy 14' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0700062 http://www.orpha.net/ORDO/Orphanet_1723 Mosaic trisomy 2 'Mosaic trisomy 2' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0700062 http://www.orpha.net/ORDO/Orphanet_1724 Mosaic trisomy 20 'Mosaic trisomy 20' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0700062 http://www.ebi.ac.uk/efo/EFO_1000621 Vagus Nerve Paraganglioma 'Vagus Nerve Paraganglioma' SubClassOf 'head and neck neoplasia' http://www.ebi.ac.uk/efo/EFO_1000622 VIP-Producing Neuroendocrine Tumor 'VIP-Producing Neuroendocrine Tumor' SubClassOf 'pancreatic neoplasm' 'VIP-Producing Neuroendocrine Tumor' SubClassOf 'pancreas disease' http://www.ebi.ac.uk/efo/EFO_0002617 metastatic melanoma 'metastatic melanoma' SubClassOf 'metastatic neoplasm' http://www.ebi.ac.uk/efo/EFO_0002616 macroglobulinemia 'macroglobulinemia' SubClassOf 'plasma cell neoplasm' http://www.ebi.ac.uk/efo/EFO_0002609 juvenile idiopathic arthritis 'juvenile idiopathic arthritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700007 http://www.ebi.ac.uk/efo/EFO_1000666 acrokeratosis verruciformis 'acrokeratosis verruciformis' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_228418 Microcephaly - seizures - developmental delay 'Microcephaly - seizures - developmental delay' SubClassOf 'Rare syndromic dyslipidemia' http://www.ebi.ac.uk/efo/EFO_1000618 Vaginal Carcinosarcoma 'Vaginal Carcinosarcoma' SubClassOf 'carcinoma' http://www.ebi.ac.uk/efo/EFO_1000613 Uterine Carcinosarcoma 'Uterine Carcinosarcoma' SubClassOf 'sarcoma' 'Uterine Carcinosarcoma' SubClassOf 'uterine carcinoma' http://www.orpha.net/ORDO/Orphanet_1747 Mosaic trisomy 7 'Mosaic trisomy 7' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0700062 http://www.orpha.net/ORDO/Orphanet_1775 Dyskeratosis congenita 'Dyskeratosis congenita' SubClassOf 'skin neoplasm' 'Dyskeratosis congenita' SubClassOf 'brain neoplasm' http://purl.obolibrary.org/obo/UBERON_0022353 posterior cingulate cortex 'posterior cingulate cortex' SubClassOf 'part_of' some 'nervous system' http://www.ebi.ac.uk/efo/EFO_0002510 serous cystadenofibroma 'serous cystadenofibroma' SubClassOf 'ovarian neoplasm' 'serous cystadenofibroma' SubClassOf 'ovarian disease' http://www.ebi.ac.uk/efo/EFO_0002511 simple cystadenoma 'simple cystadenoma' SubClassOf 'ovarian benign neoplasm' 'simple cystadenoma' SubClassOf 'Benign Ovarian Neoplasm' http://www.ebi.ac.uk/efo/EFO_0002501 anaplastic oligodendroglioma 'anaplastic oligodendroglioma' SubClassOf 'oligodendroglioma' http://www.ebi.ac.uk/efo/EFO_0002507 ovarian adenoma benign 'ovarian adenoma benign' SubClassOf 'ovarian neoplasm' 'ovarian adenoma benign' SubClassOf 'ovarian disease' http://www.ebi.ac.uk/efo/EFO_1000798 adrenal rest tumor 'adrenal rest tumor' SubClassOf 'adrenal gland neoplasm' 'adrenal rest tumor' SubClassOf 'endocrine neoplasm' http://www.ebi.ac.uk/efo/EFO_0002431 tumour of cranial and spinal nerves 'tumour of cranial and spinal nerves' SubClassOf 'cancer' 'tumour of cranial and spinal nerves' EquivalentTo 'cancer' and ('has_disease_location' some ('peripheral nervous system' or ('part_of' some 'peripheral nervous system'))) 'tumour of cranial and spinal nerves' SubClassOf 'peripheral nervous system disease' 'tumour of cranial and spinal nerves' SubClassOf 'peripheral nervous system disease' 'tumour of cranial and spinal nerves' SubClassOf 'nervous system neoplasm' http://www.ebi.ac.uk/efo/EFO_0002430 primary myelofibrosis 'primary myelofibrosis' SubClassOf 'myeloproliferative disorder' http://www.ebi.ac.uk/efo/EFO_0002424 fibroma 'fibroma' SubClassOf 'benign neoplasm' http://www.ebi.ac.uk/efo/EFO_0002427 myeloid neoplasm 'myeloid neoplasm' EquivalentTo 'neoplasm' and ('has_disease_location' some 'myeloid cell') 'myeloid neoplasm' SubClassOf 'lymphoid neoplasm' 'myeloid neoplasm' SubClassOf 'has_disease_location' some 'myeloid cell' http://www.ebi.ac.uk/efo/EFO_0002429 polycythemia vera 'polycythemia vera' SubClassOf 'polycythemia' 'polycythemia vera' SubClassOf 'myeloproliferative disorder' http://purl.obolibrary.org/obo/MONDO_0018271 peripheral primitive neuroectodermal tumor 'peripheral primitive neuroectodermal tumor' SubClassOf 'central nervous system cancer' http://purl.obolibrary.org/obo/MONDO_0043237 glossodynia 'glossodynia' SubClassOf 'disorder involving pain' 'glossodynia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700057 http://purl.obolibrary.org/obo/MONDO_0043243 leukoplakia 'leukoplakia' SubClassOf 'disease by anatomical system' 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_0700007 http://www.orpha.net/ORDO/Orphanet_1692 Mosaic trisomy 1 'Mosaic trisomy 1' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0700062 http://www.orpha.net/ORDO/Orphanet_1698 Mosaic trisomy 12 'Mosaic trisomy 12' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0700062 http://www.ebi.ac.uk/efo/EFO_1000463 Parotid Gland Squamous Cell Carcinoma 'Parotid Gland Squamous Cell Carcinoma' SubClassOf 'carcinoma of parotid gland' 'Parotid Gland Squamous Cell Carcinoma' SubClassOf 'Parotid Gland Carcinoma' http://www.ebi.ac.uk/efo/EFO_1000460 Parotid Gland Carcinoma 'Parotid Gland Carcinoma' SubClassOf 'parotid neoplasm' 'Parotid Gland Carcinoma' SubClassOf 'Major Salivary Gland Carcinoma' 'Parotid Gland Carcinoma' SubClassOf 'parotid gland cancer' http://www.ebi.ac.uk/efo/EFO_1000461 Parotid Gland Carcinoma ex Pleomorphic Adenoma 'Parotid Gland Carcinoma ex Pleomorphic Adenoma' SubClassOf 'carcinoma of parotid gland' 'Parotid Gland Carcinoma ex Pleomorphic Adenoma' SubClassOf 'Parotid Gland Carcinoma' http://www.ebi.ac.uk/efo/EFO_1000470 Peutz-Jeghers Polyp 'Peutz-Jeghers Polyp' SubClassOf 'stomach neoplasm' http://www.ebi.ac.uk/efo/EFO_1000476 Pineocytoma 'Pineocytoma' SubClassOf 'benign neoplasm of brain' 'Pineocytoma' SubClassOf 'Benign Brain Neoplasm' http://www.ebi.ac.uk/efo/EFO_1000474 Pineal Parenchymal Tumor of Intermediate Differentiation 'Pineal Parenchymal Tumor of Intermediate Differentiation' SubClassOf 'central nervous system cancer' http://www.ebi.ac.uk/efo/EFO_1000471 Peutz-Jeghers Polyp of the Stomach 'Peutz-Jeghers Polyp of the Stomach' SubClassOf 'Peutz-Jeghers syndrome' http://www.ebi.ac.uk/efo/EFO_1000489 Poorly Differentiated Thyroid Gland Carcinoma 'Poorly Differentiated Thyroid Gland Carcinoma' SubClassOf 'thyroid carcinoma' 'Poorly Differentiated Thyroid Gland Carcinoma' SubClassOf 'thyroid 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 http://purl.obolibrary.org/obo/MONDO_0100257 'Peroxisomal beta-oxidation disorder' SubClassOf 'Disorder of peroxisomal alpha-, beta- and omega-oxidation' http://www.ebi.ac.uk/efo/EFO_0002824 HCT116 'HCT116' SubClassOf 'colonic cancer cell line' http://purl.obolibrary.org/obo/PATO_0000383 female 'female' SubClassOf 'sex' 'female' SubClassOf http://purl.obolibrary.org/obo/PATO_0001894 http://purl.obolibrary.org/obo/PATO_0000384 male 'male' SubClassOf 'sex' 'male' SubClassOf http://purl.obolibrary.org/obo/PATO_0001894 http://www.ebi.ac.uk/efo/EFO_1000401 Non-Seminomatous Lesion 'Non-Seminomatous Lesion' SubClassOf 'endocrine neoplasm' 'Non-Seminomatous Lesion' SubClassOf 'urogenital neoplasm' http://www.ebi.ac.uk/efo/EFO_1000407 Olfactory Neuroblastoma 'Olfactory Neuroblastoma' SubClassOf 'malignant cranial nerve neoplasm' 'Olfactory Neuroblastoma' SubClassOf 'respiratory system neoplasm' 'Olfactory Neuroblastoma' SubClassOf 'respiratory system disease' 'Olfactory Neuroblastoma' SubClassOf 'cranial nerve malignant neoplasm' http://www.ebi.ac.uk/efo/EFO_1000403 Ocular Melanoma 'Ocular Melanoma' SubClassOf 'neuroendocrine carcinoma' 'Ocular Melanoma' SubClassOf 'malignant endocrine neoplasm' http://www.orpha.net/ORDO/Orphanet_79197 Disorder of branched-chain amino acid metabolism 'Disorder of branched-chain amino acid metabolism' SubClassOf 'Organic aciduria' 'Disorder of branched-chain amino acid metabolism' SubClassOf 'inherited amino acid metabolic disorder' http://www.ebi.ac.uk/efo/EFO_0000216 acinar cell carcinoma 'acinar cell carcinoma' SubClassOf 'disease by anatomical system' http://www.ebi.ac.uk/efo/EFO_1000428 Ovarian Serous Adenofibroma 'Ovarian Serous Adenofibroma' SubClassOf 'ovarian benign neoplasm' 'Ovarian Serous Adenofibroma' SubClassOf 'Benign Ovarian Neoplasm' http://www.ebi.ac.uk/efo/EFO_0002866 TE85 'TE85' SubClassOf 'cancer cell line' 'TE85' SubClassOf 'osteosarcoma cell line' http://www.ebi.ac.uk/efo/EFO_0002869 U2OS 'U2OS' SubClassOf 'cancer cell line' 'U2OS' SubClassOf 'osteosarcoma cell line' http://www.ebi.ac.uk/efo/EFO_0002890 renal carcinoma 'renal carcinoma' EquivalentTo 'carcinoma' and ('has_disease_location' some 'kidney') http://www.ebi.ac.uk/efo/EFO_0002893 choriocarcinoma 'choriocarcinoma' SubClassOf 'uterine neoplasm' 'choriocarcinoma' SubClassOf 'female reproductive system disease' http://www.ebi.ac.uk/efo/EFO_0002892 thyroid carcinoma 'thyroid carcinoma' EquivalentTo 'carcinoma' and ('has_disease_location' some 'thyroid gland') 'thyroid carcinoma' SubClassOf 'has_disease_location' some 'thyroid gland' http://www.ebi.ac.uk/efo/EFO_1000445 Pancreatic Vipoma 'Pancreatic Vipoma' SubClassOf 'pancreatic neoplasm' 'Pancreatic Vipoma' SubClassOf 'endocrine neoplasm' 'Pancreatic Vipoma' SubClassOf 'pancreas disease' http://www.ebi.ac.uk/efo/EFO_0000232 adenoma 'adenoma' SubClassOf 'benign neoplasm' 'adenoma' SubClassOf 'disease by anatomical system' http://www.ebi.ac.uk/efo/EFO_1000440 Pancreatic Gastrinoma 'Pancreatic Gastrinoma' SubClassOf 'pancreatic neoplasm' 'Pancreatic Gastrinoma' SubClassOf 'endocrine neoplasm' 'Pancreatic Gastrinoma' SubClassOf 'pancreas disease' http://www.ebi.ac.uk/efo/EFO_1000441 Pancreatic Glucagonoma 'Pancreatic Glucagonoma' SubClassOf 'pancreatic neoplasm' 'Pancreatic Glucagonoma' SubClassOf 'pancreas disease' 'Pancreatic Glucagonoma' SubClassOf 'endocrine neoplasm' http://www.ebi.ac.uk/efo/EFO_1000447 Papillary Craniopharyngioma 'Papillary Craniopharyngioma' SubClassOf 'endocrine neoplasm' 'Papillary Craniopharyngioma' SubClassOf 'endocrine system disease' http://www.ebi.ac.uk/efo/EFO_1000456 Parathyroid Gland Carcinoma 'Parathyroid Gland Carcinoma' SubClassOf 'Inborn errors of metabolism' http://www.ebi.ac.uk/efo/EFO_1000453 Paraganglioma 'Paraganglioma' SubClassOf 'inherited neuroendocrine tumor' 'Paraganglioma' SubClassOf 'Genetic endocrine tumor' http://www.ebi.ac.uk/efo/EFO_0000222 acute myeloid leukemia 'acute myeloid leukemia' SubClassOf 'acute disease' 'acute myeloid leukemia' SubClassOf 'myeloproliferative disorder' http://www.ebi.ac.uk/efo/EFO_1000451 Papillary Tumor of the Pineal Region 'Papillary Tumor of the Pineal Region' SubClassOf 'endocrine neoplasm' 'Papillary Tumor of the Pineal Region' SubClassOf 'endocrine system disease' http://www.ebi.ac.uk/efo/EFO_1000459 Parotid Gland Adenoid Cystic Carcinoma 'Parotid Gland Adenoid Cystic Carcinoma' SubClassOf 'carcinoma of parotid gland' 'Parotid Gland Adenoid Cystic Carcinoma' SubClassOf 'Parotid Gland Carcinoma' http://www.ebi.ac.uk/efo/EFO_1000458 Parotid Gland Acinic Cell Carcinoma 'Parotid Gland Acinic Cell Carcinoma' SubClassOf 'carcinoma of parotid gland' 'Parotid Gland Acinic Cell Carcinoma' SubClassOf 'parotid neoplasm' 'Parotid Gland Acinic Cell Carcinoma' SubClassOf 'Parotid Gland Carcinoma' http://purl.obolibrary.org/obo/UBERON_0000934 ventral nerve cord 'ventral nerve cord' SubClassOf 'part_of' some 'nervous system' http://www.ebi.ac.uk/efo/EFO_0002793 HL-60 'HL-60' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0002798 NB4 'NB4' SubClassOf 'cancer cell line' http://purl.obolibrary.org/obo/UBERON_0000948 heart 'heart' SubClassOf 'part_of' some 'thoracic segment of trunk' 'heart' SubClassOf 'part_of' some 'trunk' http://purl.obolibrary.org/obo/UBERON_0000956 cerebral cortex 'cerebral cortex' SubClassOf 'part_of' some 'central nervous system' http://purl.obolibrary.org/obo/UBERON_0000955 brain 'brain' SubClassOf 'part_of' some 'multicellular organism' http://purl.obolibrary.org/obo/MONDO_0018170 idiopathic nephrotic syndrome 'idiopathic nephrotic syndrome' EquivalentTo 'nephrotic syndrome' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0700005) 'idiopathic nephrotic syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700007 http://www.ebi.ac.uk/efo/EFO_0000174 Ewing sarcoma 'Ewing sarcoma' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0000196 metastatic prostate cancer 'metastatic prostate cancer' SubClassOf 'metastatic neoplasm' http://www.ebi.ac.uk/efo/EFO_0000198 myelodysplastic syndrome 'myelodysplastic syndrome' SubClassOf 'myeloid neoplasm' http://www.ebi.ac.uk/efo/EFO_0000181 head and neck squamous cell carcinoma '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 'neoplasm' and ('has_disease_location' some ('head' or ('part_of' some 'head'))) 'head and neck squamous cell carcinoma' SubClassOf 'has_disease_location' some ('neck' or ('part_of' some 'neck')) 'head and neck squamous cell carcinoma' SubClassOf 'has_disease_location' some ('head' or ('part_of' some 'head')) http://purl.obolibrary.org/obo/UBERON_0000925 endoderm 'endoderm' SubClassOf 'part_of' some 'embryonic structure' 'endoderm' SubClassOf 'part_of' some 'embryo' http://purl.obolibrary.org/obo/UBERON_0000924 ectoderm 'ectoderm' SubClassOf 'part_of' some 'embryo' 'ectoderm' SubClassOf 'part_of' some 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0000927 mesectoderm 'mesectoderm' SubClassOf 'part_of' some 'embryo' 'mesectoderm' SubClassOf 'part_of' some 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0000926 mesoderm 'mesoderm' SubClassOf 'part_of' some 'embryo' 'mesoderm' SubClassOf 'part_of' some 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0000976 humerus 'humerus' SubClassOf 'part_of' some 'limb' 'humerus' SubClassOf 'part_of' some 'forelimb' 'humerus' SubClassOf 'part_of' some 'anatomical system' 'humerus' SubClassOf 'part_of' some 'skeletal system' http://purl.obolibrary.org/obo/UBERON_0000979 tibia 'tibia' SubClassOf 'part_of' some 'anatomical system' 'tibia' SubClassOf 'part_of' some 'hindlimb' 'tibia' SubClassOf 'part_of' some 'skeletal system' 'tibia' SubClassOf 'part_of' some 'limb' http://purl.obolibrary.org/obo/UBERON_0000977 pleura 'pleura' SubClassOf 'part_of' some 'respiratory system' http://purl.obolibrary.org/obo/UBERON_0010302 amnioserosa 'amnioserosa' SubClassOf 'extraembryonic tissue' http://purl.obolibrary.org/obo/UBERON_0000988 pons 'pons' SubClassOf 'part_of' some 'nervous system' http://purl.obolibrary.org/obo/UBERON_0000982 skeletal joint 'skeletal joint' SubClassOf 'part_of' some 'articular system' http://purl.obolibrary.org/obo/UBERON_0000981 femur 'femur' SubClassOf 'part_of' some 'hindlimb' 'femur' SubClassOf 'part_of' some 'skeletal system' 'femur' SubClassOf 'part_of' some 'anatomical system' 'femur' SubClassOf 'part_of' some 'limb' 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 'thyroid neoplasm' 'Thyroid Gland Mixed Medullary and Follicular Cell Carcinoma' SubClassOf 'endocrine neoplasm' 'Thyroid Gland Mixed Medullary and Follicular Cell Carcinoma' SubClassOf 'thyroid disease' http://www.ebi.ac.uk/efo/EFO_1000591 Thyroid Gland Mucosa-Associated Lymphoid Tissue Lymphoma 'Thyroid Gland Mucosa-Associated Lymphoid Tissue Lymphoma' SubClassOf 'thyroid carcinoma' 'Thyroid Gland Mucosa-Associated Lymphoid Tissue Lymphoma' SubClassOf 'thyroid disease' http://www.ebi.ac.uk/efo/EFO_1000592 Thyroid Gland Oncocytic Follicular Carcinoma 'Thyroid Gland Oncocytic Follicular Carcinoma' SubClassOf 'thyroid carcinoma' 'Thyroid Gland Oncocytic Follicular Carcinoma' SubClassOf 'thyroid disease' 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 'spindle cell tumor' http://www.ebi.ac.uk/efo/EFO_1000509 Retinal Neoplasm 'Retinal Neoplasm' SubClassOf 'eye neoplasm' 'Retinal Neoplasm' SubClassOf 'nervous system neoplasm' 'Retinal Neoplasm' SubClassOf 'eye neoplasm' 'Retinal Neoplasm' SubClassOf 'retinopathy' http://www.ebi.ac.uk/efo/EFO_1000513 Salivary Gland Acinic Cell Carcinoma 'Salivary Gland Acinic Cell Carcinoma' SubClassOf 'pancreatic neoplasm' 'Salivary Gland Acinic Cell Carcinoma' SubClassOf 'salivary gland neoplasm' 'Salivary Gland Acinic Cell Carcinoma' SubClassOf 'pancreas disease' http://www.orpha.net/ORDO/Orphanet_79095 Congenital bile acid synthesis defect type 4 'Congenital bile acid synthesis defect type 4' SubClassOf 'Alpha-methylacyl-CoA racemase deficiency' 'Congenital bile acid synthesis defect type 4' SubClassOf 'Alpha-methylacyl-CoA racemase deficiency' http://www.ebi.ac.uk/efo/EFO_1000533 Small Intestinal Burkitt Lymphoma 'Small Intestinal Burkitt Lymphoma' SubClassOf 'Genetic digestive tract tumor' http://www.ebi.ac.uk/efo/EFO_1000537 Small Intestinal Mucosa-Associated Lymphoid Tissue Lymphoma 'Small Intestinal Mucosa-Associated Lymphoid Tissue Lymphoma' SubClassOf 'Genetic digestive tract tumor' 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' http://www.ebi.ac.uk/efo/EFO_1000543 Spinal Chordoma 'Spinal Chordoma' SubClassOf 'spinal cord neoplasm' 'Spinal Chordoma' SubClassOf 'spinal cord disease' http://www.ebi.ac.uk/efo/EFO_1000541 Soft Tissue Neoplasm 'Soft Tissue Neoplasm' SubClassOf 'soft tissue disease' http://www.ebi.ac.uk/efo/EFO_1000566 Testicular Germ Cell Tumor 'Testicular Germ Cell Tumor' SubClassOf 'testicular neoplasm' http://www.ebi.ac.uk/efo/EFO_1000561 Tendon Sheath Fibroma 'Tendon Sheath Fibroma' SubClassOf 'bone neoplasm' http://www.ebi.ac.uk/efo/EFO_1000562 Tenosynovial Giant Cell Tumor 'Tenosynovial Giant Cell Tumor' SubClassOf 'bone neoplasm' 'Tenosynovial Giant Cell Tumor' SubClassOf 'connective tissue neoplasm' http://www.ebi.ac.uk/efo/EFO_1000560 T-Cell Prolymphocytic Leukemia 'T-Cell Prolymphocytic Leukemia' SubClassOf 'T-cell leukemia' 'T-Cell Prolymphocytic Leukemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003540 http://www.ebi.ac.uk/efo/EFO_1000569 Testicular Leydig Cell Tumor 'Testicular Leydig Cell Tumor' SubClassOf 'endocrine neoplasm' http://www.ebi.ac.uk/efo/EFO_1000567 Testicular Granulosa Cell Tumor 'Testicular Granulosa Cell Tumor' SubClassOf 'endocrine neoplasm' http://www.ebi.ac.uk/efo/EFO_1000568 Testicular Large Cell Calcifying Sertoli Cell Tumor 'Testicular Large Cell Calcifying Sertoli Cell Tumor' SubClassOf 'endocrine neoplasm' http://www.ebi.ac.uk/efo/EFO_1000575 Therapy-Related Myeloid Neoplasm 'Therapy-Related Myeloid Neoplasm' SubClassOf 'myeloproliferative disorder' http://www.ebi.ac.uk/efo/EFO_1000572 Testicular Sertoli Cell Tumor 'Testicular Sertoli Cell Tumor' SubClassOf 'endocrine neoplasm' http://www.ebi.ac.uk/efo/EFO_1000573 Testicular Teratoma 'Testicular Teratoma' SubClassOf 'Testicular Germ Cell Tumor' 'Testicular Teratoma' SubClassOf 'Testicular Germ Cell Tumor' http://www.ebi.ac.uk/efo/EFO_1000571 Testicular Sclerosing Sertoli Cell Tumor 'Testicular Sclerosing Sertoli Cell Tumor' SubClassOf 'endocrine neoplasm' http://purl.obolibrary.org/obo/MONDO_0021668 disorder involving pain 'disorder involving pain' SubClassOf 'disease' 'disorder involving pain' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1896 EEC syndrome 'EEC syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'EEC syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' http://purl.obolibrary.org/obo/MONDO_0002358 laryngeal carcinoma 'laryngeal carcinoma' SubClassOf 'larynx cancer' 'laryngeal carcinoma' SubClassOf 'Malignant Laryngeal Neoplasm' http://purl.obolibrary.org/obo/MONDO_0002351 glottis cancer 'glottis cancer' SubClassOf 'larynx cancer' 'glottis cancer' SubClassOf 'Malignant Laryngeal Neoplasm' 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_0002366 autonomic nervous system neoplasm 'autonomic nervous system neoplasm' SubClassOf 'peripheral nervous system neoplasm' 'autonomic nervous system neoplasm' SubClassOf 'tumour of cranial and spinal nerves' http://www.ebi.ac.uk/efo/EFO_0005294 chronic myelogenous leukemia cell line 'chronic myelogenous leukemia cell line' SubClassOf 'cancer cell line' 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 'epidermal disease' 'Acrodermatitis continua suppurativa of Hallopeau' SubClassOf 'Unclassified genetic skin disorder' 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 'Jervell-Lange Nielsen syndrome' 'Jervell and Lange-Nielsen syndrome' SubClassOf 'Familial long QT syndrome' http://purl.obolibrary.org/obo/UBERON_0006083 perirhinal cortex 'perirhinal cortex' SubClassOf 'part_of' some 'nervous system' 'perirhinal cortex' SubClassOf 'part_of' some 'telencephalon' 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_0002415 bone carcinoma 'bone carcinoma' SubClassOf 'bone cancer' 'bone carcinoma' SubClassOf 'Malignant Bone Neoplasm' http://www.ebi.ac.uk/efo/EFO_0005222 avian influenza 'avian influenza' SubClassOf 'Orthomyxoviridae infectious disease' http://www.ebi.ac.uk/efo/EFO_0005220 pulmonary neuroendocrine tumor 'pulmonary neuroendocrine tumor' SubClassOf 'lung carcinoma' http://www.ebi.ac.uk/efo/EFO_0005226 swine influenza 'swine influenza' SubClassOf 'Orthomyxoviridae infectious disease' http://purl.obolibrary.org/obo/MONDO_0002429 idiopathic interstitial pneumonia 'idiopathic interstitial pneumonia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700007 http://purl.obolibrary.org/obo/MONDO_0002436 nasal disorder 'nasal disorder' SubClassOf 'disease by anatomical system' 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_0002441 Jervell-Lange Nielsen syndrome 'Jervell-Lange Nielsen syndrome' SubClassOf 'syndromic disease' 'Jervell-Lange Nielsen syndrome' SubClassOf 'disease has feature' some 'torsades de pointes' 'Jervell-Lange Nielsen syndrome' SubClassOf 'congenital heart disease' http://www.ebi.ac.uk/efo/EFO_0007890 pericardial adipose tissue measurement 'pericardial adipose tissue measurement' SubClassOf 'anthropometric measurement' 'pericardial adipose tissue measurement' SubClassOf 'adipose tissue measurement' http://www.ebi.ac.uk/efo/EFO_0005235 primitive neuroectodermal tumor 'primitive neuroectodermal tumor' SubClassOf 'brain neoplasm' 'primitive neuroectodermal tumor' SubClassOf 'neoplasm' and ('has_disease_location' some ('brain' or ('part_of' some 'brain'))) 'primitive neuroectodermal tumor' SubClassOf 'has_disease_location' some ('brain' or ('part_of' some 'brain')) 'primitive neuroectodermal tumor' SubClassOf 'central nervous system disease' http://purl.obolibrary.org/obo/MONDO_0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency 'severe early-onset pulmonary alveolar proteinosis due to MARS deficiency' SubClassOf 'pulmonary alveolar proteinosis' 'severe early-onset pulmonary alveolar proteinosis due to MARS deficiency' SubClassOf 'Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies' http://purl.obolibrary.org/obo/MONDO_0014274 L-ferritin deficiency 'L-ferritin deficiency' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/HP_0000733 Stereotypy 'Stereotypy' SubClassOf 'Abnormal central motor function' http://purl.obolibrary.org/obo/MONDO_0002328 intracranial hemangioma 'intracranial hemangioma' SubClassOf 'benign neoplasm of brain' 'intracranial hemangioma' SubClassOf 'Benign Brain Neoplasm' http://purl.obolibrary.org/obo/MONDO_0016747 primary melanoma of the central nervous system 'primary melanoma of the central nervous system' SubClassOf 'neuroendocrine carcinoma' 'primary melanoma of the central nervous system' SubClassOf 'malignant endocrine neoplasm' 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_0002132 skull cancer 'skull cancer' SubClassOf 'bone cancer' 'skull cancer' SubClassOf 'Malignant Bone Neoplasm' http://purl.obolibrary.org/obo/MONDO_0016784 gestational trophoblastic disease 'gestational trophoblastic disease' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0002158 fallopian tube cancer 'fallopian tube cancer' SubClassOf 'female reproductive organ cancer' 'fallopian tube cancer' SubClassOf 'Genital neoplasm, female' http://purl.obolibrary.org/obo/MONDO_0002167 rectum malignant melanoma 'rectum malignant melanoma' SubClassOf 'neuroendocrine carcinoma' http://www.orpha.net/ORDO/Orphanet_391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome 'Intellectual disability-severe speech delay-mild dysmorphism syndrome' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_99226 Monosomy X 'Monosomy X' SubClassOf 'monosomy' http://www.orpha.net/ORDO/Orphanet_99228 Mosaic monosomy X 'Mosaic monosomy X' SubClassOf 'monosomy' 'Mosaic monosomy X' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0700062 http://www.ebi.ac.uk/efo/EFO_0005403 response to dietary potassium supplementation 'response to dietary potassium supplementation' SubClassOf 'is_about' some 'potassium' http://purl.obolibrary.org/obo/MONDO_0002009 major depressive disorder 'major depressive disorder' SubClassOf 'depressive disorder' 'major depressive disorder' SubClassOf 'depressive disorder' http://www.ebi.ac.uk/efo/EFO_0005395 MUTZ-3 'MUTZ-3' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0005392 LAPC-4 'LAPC-4' SubClassOf 'cancer cell line' 'LAPC-4' SubClassOf 'prostate cancer cell line' http://purl.obolibrary.org/obo/MONDO_0014013 maternal riboflavin deficiency 'maternal riboflavin deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004573 http://www.orpha.net/ORDO/Orphanet_271847 Genetic endocrine tumor 'Genetic endocrine tumor' SubClassOf 'endocrine neoplasm' 'Genetic endocrine tumor' EquivalentTo 'neuroendocrine neoplasm' and ('has modifier' some 'inherited') 'Genetic endocrine tumor' SubClassOf 'has modifier' some 'rare' 'Genetic endocrine tumor' SubClassOf 'neuroendocrine neoplasm' http://www.orpha.net/ORDO/Orphanet_271844 Genetic urogenital tumor 'Genetic urogenital tumor' SubClassOf 'urogenital neoplasm' http://www.orpha.net/ORDO/Orphanet_271832 Genetic soft tissue tumor 'Genetic soft tissue tumor' SubClassOf 'soft tissue disease' http://purl.obolibrary.org/obo/MONDO_0002060 intraductal papilloma 'intraductal papilloma' SubClassOf 'disease by anatomical system' http://www.orpha.net/ORDO/Orphanet_53715 Tumoral calcinosis 'Tumoral calcinosis' SubClassOf 'endocrine neoplasm' 'Tumoral calcinosis' SubClassOf 'Rare genetic parathyroid disease and phosphocalcic metabolism disorder' http://www.orpha.net/ORDO/Orphanet_209867 Autosomal dominant rhegmatogenous retinal detachment 'Autosomal dominant rhegmatogenous retinal detachment' SubClassOf 'autosomal dominant disease' 'Autosomal dominant rhegmatogenous retinal detachment' SubClassOf http://purl.obolibrary.org/obo/MONDO_0022672 http://www.orpha.net/ORDO/Orphanet_26106 Familial gastric cancer 'Familial gastric cancer' SubClassOf 'Genetic gastro-esophageal disease' 'Familial gastric cancer' SubClassOf 'Genetic digestive tract tumor' 'Familial gastric cancer' EquivalentTo 'diffuse gastric adenocarcinoma' and ('has modifier' some 'inherited') 'Familial gastric cancer' SubClassOf 'Genetic gastro-esophageal disease' 'Familial gastric cancer' SubClassOf 'hereditary gastric cancer' 'Familial gastric cancer' SubClassOf 'diffuse gastric adenocarcinoma' http://www.orpha.net/ORDO/Orphanet_163985 Hyperekplexia - epilepsy 'Hyperekplexia - epilepsy' SubClassOf 'Rare syndromic dyslipidemia' http://www.orpha.net/ORDO/Orphanet_65748 Multiple keratoacanthoma, Ferguson-Smith type 'Multiple keratoacanthoma, Ferguson-Smith type' SubClassOf 'Genetic skin tumor' http://purl.obolibrary.org/obo/UBERON_0011905 plantaris 'plantaris' SubClassOf 'part_of' some 'leg' http://www.orpha.net/ORDO/Orphanet_293168 Infantile-onset ascending hereditary spastic paralysis 'Infantile-onset ascending hereditary spastic paralysis' SubClassOf 'motor neuron disease' http://purl.obolibrary.org/obo/MONDO_0004700 parotid gland cancer 'parotid gland cancer' SubClassOf 'parotid gland neoplasm' 'parotid gland cancer' SubClassOf 'parotid neoplasm' http://purl.obolibrary.org/obo/MONDO_0004756 nasal cavity neoplasm 'nasal cavity neoplasm' SubClassOf 'respiratory tract neoplasm' 'nasal cavity neoplasm' SubClassOf 'respiratory system neoplasm' http://www.ebi.ac.uk/efo/EFO_0003082 COLO205 'COLO205' SubClassOf 'colonic cancer cell line' http://purl.obolibrary.org/obo/MONDO_0004527 congenital granular cell tumor 'congenital granular cell tumor' SubClassOf 'granular cell cancer' 'congenital granular cell tumor' SubClassOf 'granular cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0004532 auditory system cancer 'auditory system cancer' SubClassOf 'head and neck neoplasia' http://www.ebi.ac.uk/efo/EFO_0003094 ganglioglioma 'ganglioglioma' SubClassOf 'central nervous system cancer' 'ganglioglioma' SubClassOf 'low grade glioma' http://www.ebi.ac.uk/efo/EFO_0003099 Cushing syndrome 'Cushing syndrome' SubClassOf 'chemically-induced disorder' http://purl.obolibrary.org/obo/UBERON_0006479 Brodmann (1909) area 38 'Brodmann (1909) area 38' SubClassOf 'part_of' some 'nervous system' http://purl.obolibrary.org/obo/UBERON_0006483 Brodmann (1909) area 46 'Brodmann (1909) area 46' SubClassOf 'part_of' some 'nervous system' http://www.ebi.ac.uk/efo/EFO_0005627 perianal Crohn's disease 'perianal Crohn's disease' SubClassOf 'disorder by anatomical region' http://purl.obolibrary.org/obo/UBERON_2000712 internal yolk syncytial layer 'internal yolk syncytial layer' SubClassOf 'part_of' some 'embryo' http://www.ebi.ac.uk/efo/EFO_0005687 fibromyalgia 'fibromyalgia' SubClassOf 'myositis' 'fibromyalgia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700007 'fibromyalgia' SubClassOf 'muscular disease' http://www.ebi.ac.uk/efo/EFO_0003014 breast fibrocystic disease 'breast fibrocystic disease' SubClassOf 'breast neoplasm' 'breast fibrocystic disease' SubClassOf 'breast disease' 'breast fibrocystic disease' SubClassOf 'integumentary system disease' http://www.ebi.ac.uk/efo/EFO_0005696 D721Med 'D721Med' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0003037 CMK 'CMK' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0005698 Daoy 'Daoy' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0003063 polymyositis 'polymyositis' SubClassOf 'myositis' http://www.orpha.net/ORDO/Orphanet_65283 Timothy syndrome 'Timothy syndrome' SubClassOf 'Familial long QT syndrome' 'Timothy syndrome' SubClassOf 'Familial long QT syndrome' http://purl.obolibrary.org/obo/UBERON_2000677 segmental intercostal artery 'segmental intercostal artery' SubClassOf 'part_of' some 'trunk' http://purl.obolibrary.org/obo/UBERON_2000657 entopterygoid 'entopterygoid' SubClassOf 'part_of' some 'head' 'entopterygoid' SubClassOf 'part_of' some 'digestive system' http://www.orpha.net/ORDO/Orphanet_90031 Non-spherocytic hemolytic anemia due to hexokinase deficiency 'Non-spherocytic hemolytic anemia due to hexokinase deficiency' SubClassOf 'familial hemolytic anemia' 'Non-spherocytic hemolytic anemia due to hexokinase deficiency' SubClassOf 'Disorder of glycolysis' http://purl.obolibrary.org/obo/MONDO_0016441 acquired pseudoxanthoma elasticum 'acquired pseudoxanthoma elasticum' SubClassOf 'Pseudoxanthoma elasticum' 'acquired pseudoxanthoma elasticum' SubClassOf 'pseudoxanthoma elasticum (inherited or acquired)' http://purl.obolibrary.org/obo/UBERON_2000693 tangential nucleus 'tangential nucleus' SubClassOf 'part_of' some 'brain' 'tangential nucleus' SubClassOf 'part_of' some 'hindbrain' 'tangential nucleus' SubClassOf 'part_of' some 'brainstem' http://purl.obolibrary.org/obo/MONDO_0004483 thyroid gland oncocytic adenoma 'thyroid gland oncocytic adenoma' SubClassOf 'oncocytic adenoma' 'thyroid gland oncocytic adenoma' SubClassOf 'oxyphilic adenoma' http://purl.obolibrary.org/obo/UBERON_0008930 somatosensory cortex 'somatosensory cortex' SubClassOf 'part_of' some 'nervous system' http://purl.obolibrary.org/obo/MONDO_0041447 metastatic malignant neoplasm in the colon 'metastatic malignant neoplasm in the colon' SubClassOf 'secondary carcinoma' http://purl.obolibrary.org/obo/MONDO_0100338 urinary tract infection (disease) 'urinary tract infection (disease)' SubClassOf 'infectious disease' 'urinary tract infection (disease)' SubClassOf 'urinary system disease' http://purl.obolibrary.org/obo/MONDO_0100345 lactose intolerance (disease) 'lactose intolerance (disease)' SubClassOf 'nutritional disorder' 'lactose intolerance (disease)' SubClassOf 'Metabolic disease with intestinal involvement' 'lactose intolerance (disease)' SubClassOf 'malabsorption syndrome' 'lactose intolerance (disease)' SubClassOf 'Disorder of carbohydrate metabolism' http://purl.obolibrary.org/obo/UBERON_0008998 vasculature of brain 'vasculature of brain' SubClassOf 'part_of' some 'central nervous system' 'vasculature of brain' SubClassOf 'vasculature' http://www.ebi.ac.uk/efo/EFO_0005543 glioma 'glioma' SubClassOf 'brain neoplasm' 'glioma' SubClassOf 'neoplasm' and ('has_disease_location' some ('brain' or ('part_of' some 'brain'))) 'glioma' SubClassOf 'central nervous system disease' 'glioma' SubClassOf 'has_disease_location' some ('brain' or ('part_of' some 'brain')) http://purl.obolibrary.org/obo/UBERON_2000603 valvula cerebelli 'valvula cerebelli' SubClassOf 'part_of' some 'nervous system' http://www.ebi.ac.uk/efo/EFO_0005561 histiocytoma 'histiocytoma' SubClassOf 'sarcoma' http://www.ebi.ac.uk/efo/EFO_0005553 eccrine sweat gland cancer '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 ('eccrine sweat gland' or ('part_of' some 'eccrine sweat gland')) http://www.ebi.ac.uk/efo/EFO_0005551 dysembryoplastic neuroepithelial tumor 'dysembryoplastic neuroepithelial tumor' SubClassOf 'benign neoplasm' http://www.ebi.ac.uk/efo/EFO_0005557 gum cancer 'gum cancer' SubClassOf 'bone cancer' 'gum cancer' SubClassOf 'Malignant Bone Neoplasm' http://purl.obolibrary.org/obo/UBERON_2000645 descending octaval nucleus 'descending octaval nucleus' SubClassOf 'part_of' some 'hindbrain' 'descending octaval nucleus' SubClassOf 'part_of' some 'brainstem' 'descending octaval nucleus' SubClassOf 'part_of' some 'brain' http://purl.obolibrary.org/obo/UBERON_2000633 caudal tuberculum 'caudal tuberculum' SubClassOf 'part_of' some 'nervous system' http://www.ebi.ac.uk/efo/EFO_0005591 sweat gland carcinoma 'sweat gland carcinoma' EquivalentTo 'carcinoma' and ('has_disease_location' some ('sweat gland' or ('part_of' some 'sweat gland'))) 'sweat gland carcinoma' SubClassOf 'has_disease_location' some ('sweat gland' or ('part_of' some 'sweat gland')) http://purl.obolibrary.org/obo/MONDO_0018956 idiopathic bronchiectasis 'idiopathic bronchiectasis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700007 http://purl.obolibrary.org/obo/MONDO_0100147 SATB2 associated disorder 'SATB2 associated disorder' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_329813 Mosaic genome-wide paternal uniparental disomy 'Mosaic genome-wide paternal uniparental disomy' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0700062 http://www.ebi.ac.uk/efo/EFO_0005922 esophageal squamous cell carcinoma 'esophageal squamous cell carcinoma' SubClassOf 'carcinoma of esophagus' 'esophageal squamous cell carcinoma' SubClassOf 'esophageal carcinoma' 'esophageal squamous cell carcinoma' SubClassOf 'esophageal carcinoma' http://www.ebi.ac.uk/efo/EFO_0005917 generalised epilepsy 'generalised epilepsy' EquivalentTo 'epilepsy' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0700005) 'generalised epilepsy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700007 http://purl.obolibrary.org/obo/UBERON_0006238 future brain 'future brain' SubClassOf 'embryonic structure' 'future brain' SubClassOf 'part_of' some 'embryo' http://purl.obolibrary.org/obo/UBERON_0006241 future spinal cord 'future spinal cord' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0006240 future forebrain 'future forebrain' SubClassOf 'embryonic structure' http://www.ebi.ac.uk/efo/EFO_0005854 allergic rhinitis 'allergic rhinitis' SubClassOf 'genetic otorhinolaryngologic disease' http://purl.obolibrary.org/obo/UBERON_0006222 future diencephalon 'future diencephalon' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/MONDO_0100091 inherited pseudoxanthoma elasticum 'inherited pseudoxanthoma elasticum' SubClassOf 'genetic disorder' 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/MONDO_0100089 GATA1-Related X-Linked Cytopenia 'GATA1-Related X-Linked Cytopenia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0100061 PRPS1 deficiency disorder 'PRPS1 deficiency disorder' SubClassOf 'peripheral neuropathy' 'PRPS1 deficiency disorder' SubClassOf 'Genetic peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy 'developmental and epileptic encephalopathy' SubClassOf 'Disorder of lipid metabolism' 'developmental and epileptic encephalopathy' SubClassOf 'disorder of GPI anchor biosynthesis' 'developmental and epileptic encephalopathy' SubClassOf 'Congenital disorder of glycosylation' http://www.ebi.ac.uk/efo/EFO_0005701 malignant rhabdoid tumour 'malignant rhabdoid tumour' SubClassOf 'neoplasm' and ('has_disease_location' some ('kidney' or ('part_of' some 'kidney'))) 'malignant rhabdoid tumour' SubClassOf 'kidney neoplasm' 'malignant rhabdoid tumour' SubClassOf 'kidney disease' 'malignant rhabdoid tumour' SubClassOf 'has_disease_location' some ('kidney' or ('part_of' some 'kidney')) http://www.ebi.ac.uk/efo/EFO_0005726 LNCaP clone FGC 'LNCaP clone FGC' SubClassOf 'cancer cell line' 'LNCaP clone FGC' SubClassOf 'prostate cancer cell line' http://www.ebi.ac.uk/efo/EFO_0005716 retinal cancer 'retinal cancer' SubClassOf 'retina neoplasm' 'retinal cancer' SubClassOf 'central nervous system cancer' 'retinal cancer' SubClassOf 'Retinal Neoplasm' http://www.ebi.ac.uk/efo/EFO_0003103 urinary tract infection 'parasitic infection' DisjointWith 'urinary tract infection' 'urinary tract infection' SubClassOf 'bacterial disease' 'viral disease' DisjointWith 'urinary tract infection' 'urinary tract infection' SubClassOf 'urinary tract infection (disease)' 'urinary tract infection' SubClassOf 'bacterial disease' 'urinary tract infection' SubClassOf 'urinary system disease' 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 'brain' 'nucleus of medial longitudinal fasciculus of medulla' SubClassOf 'part_of' some 'central nervous system' 'nucleus of medial longitudinal fasciculus of medulla' SubClassOf 'part_of' some 'hindbrain' 'nucleus of medial longitudinal fasciculus of medulla' SubClassOf 'part_of' some 'brainstem' http://www.ebi.ac.uk/efo/EFO_0009619 neuroma 'neuroma' SubClassOf 'neoplasm' 'neuroma' SubClassOf 'nervous system disease' 'neuroma' SubClassOf 'peripheral nervous system disease' http://purl.obolibrary.org/obo/UBERON_2000309 external yolk syncytial layer 'external yolk syncytial layer' SubClassOf 'part_of' some 'embryo' http://www.ebi.ac.uk/efo/EFO_0009682 pregnancy disorder 'pregnancy disorder' SubClassOf 'disease' 'pregnancy disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700003 http://www.ebi.ac.uk/efo/EFO_0009683 puerperal disorder 'puerperal disorder' SubClassOf 'disease' 'puerperal disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700003 http://www.ebi.ac.uk/efo/EFO_0009685 rectal disease 'rectal disease' SubClassOf 'disorder by anatomical region' http://www.orpha.net/ORDO/Orphanet_3042 Intellectual disability - cataracts - calcified pinnae - myopathy 'Intellectual disability - cataracts - calcified pinnae - myopathy' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/UBERON_0004212 glomerular capillary 'glomerular capillary' SubClassOf 'part_of' some 'trunk' 'glomerular capillary' SubClassOf 'part_of' some 'kidney' 'glomerular capillary' SubClassOf 'part_of' some 'abdomen' http://www.orpha.net/ORDO/Orphanet_99858 Idiopathic syringomyelia 'Idiopathic syringomyelia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700007 'Idiopathic syringomyelia' EquivalentTo 'Primary syringomyelia' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0700005) http://purl.obolibrary.org/obo/UBERON_0006849 scapula 'scapula' SubClassOf 'part_of' some 'appendicular skeleton' http://purl.obolibrary.org/obo/UBERON_0006841 central vein of liver 'central vein of liver' SubClassOf 'part_of' some 'trunk' http://purl.obolibrary.org/obo/UBERON_0006865 metaphysis of femur 'metaphysis of femur' SubClassOf 'part_of' some 'femur' http://www.orpha.net/ORDO/Orphanet_99877 Familial parathyroid adenoma 'Familial parathyroid adenoma' SubClassOf 'Familial primary hyperparathyroidism' 'Familial parathyroid adenoma' SubClassOf 'Genetic endocrine tumor' 'Familial parathyroid adenoma' SubClassOf 'Inborn errors of metabolism' 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_0004264 lower leg skin 'lower leg skin' SubClassOf 'anatomical structure' 'lower leg skin' SubClassOf 'part_of' some 'limb' 'lower leg skin' SubClassOf 'zone of skin' http://purl.obolibrary.org/obo/BTO_0000407 osteosarcoma cell line 'osteosarcoma cell line' SubClassOf 'cultured cell' and ('bearer_of' some 'osteosarcoma') 'osteosarcoma cell line' EquivalentTo 'cultured cell' and ('bearer_of' some 'osteosarcoma') http://www.orpha.net/ORDO/Orphanet_319494 Familial nonmedullary thyroid carcinoma 'Familial nonmedullary thyroid carcinoma' SubClassOf 'Genetic endocrine tumor' 'Familial nonmedullary thyroid carcinoma' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_319465 Inherited acute myeloid leukemia 'Inherited acute myeloid leukemia' SubClassOf 'acute disease' 'Inherited acute myeloid leukemia' SubClassOf 'myeloproliferative disorder' http://www.ebi.ac.uk/efo/EFO_0009605 pancreas disease 'pancreas disease' SubClassOf 'disorder by anatomical region' http://www.ebi.ac.uk/efo/EFO_0009542 disorder of appendix 'disorder of appendix' SubClassOf 'cecal disease' 'disorder of appendix' SubClassOf 'large intestine disease' http://purl.obolibrary.org/obo/UBERON_2000240 metapterygoid 'metapterygoid' SubClassOf 'part_of' some 'digestive system' 'metapterygoid' SubClassOf 'part_of' some 'head' 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 'chronic polyradiculoneuropathy' 'chronic inflammatory demyelinating polyneuropathy' SubClassOf 'Genetic peripheral neuropathy' 'chronic inflammatory demyelinating polyneuropathy' SubClassOf 'Genetic neurodegenerative disease' 'chronic inflammatory demyelinating polyneuropathy' SubClassOf 'Guillain-Barre syndrome' 'chronic inflammatory demyelinating polyneuropathy' SubClassOf 'polyradiculoneuropathy' http://www.ebi.ac.uk/efo/EFO_0009565 radiation-induced disorder 'radiation-induced disorder' SubClassOf 'radiation or chemically induced disorder' 'radiation-induced disorder' SubClassOf 'disease' http://www.ebi.ac.uk/efo/EFO_0009550 headache disorder 'headache disorder' SubClassOf 'disorder involving pain' 'headache disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700057 http://www.ebi.ac.uk/efo/EFO_0009553 HIV-associated cancer 'HIV-associated cancer' SubClassOf 'urogenital neoplasm' 'HIV-associated cancer' SubClassOf 'cancer' http://purl.obolibrary.org/obo/UBERON_2000212 granular eminence 'granular eminence' SubClassOf 'part_of' some 'nervous system' http://purl.obolibrary.org/obo/UBERON_0006763 epithelium of conjunctiva 'epithelium of conjunctiva' SubClassOf 'part_of' some 'eye' http://purl.obolibrary.org/obo/UBERON_0004117 pharyngeal pouch 'pharyngeal pouch' SubClassOf 'part_of' some 'embryo' http://www.ebi.ac.uk/efo/EFO_0010580 blastic plasmacytoid dendritic cell neoplasm 'blastic plasmacytoid dendritic cell neoplasm' SubClassOf 'hematopoietic and lymphoid cell neoplasm' 'blastic plasmacytoid dendritic cell neoplasm' SubClassOf 'genetic skin disease' 'blastic plasmacytoid dendritic cell neoplasm' SubClassOf 'T-cell non-Hodgkin lymphoma' 'blastic plasmacytoid dendritic cell neoplasm' SubClassOf 'myeloid neoplasm' 'blastic plasmacytoid dendritic cell neoplasm' SubClassOf 'skin cancer' http://purl.obolibrary.org/obo/UBERON_2000291 medial octavolateralis nucleus 'medial octavolateralis nucleus' SubClassOf 'part_of' some 'central nervous system' 'medial octavolateralis nucleus' SubClassOf 'part_of' some 'brainstem' 'medial octavolateralis nucleus' SubClassOf 'part_of' some 'hindbrain' 'medial octavolateralis nucleus' SubClassOf 'part_of' some 'brain' http://purl.obolibrary.org/obo/UBERON_2000294 torus lateralis 'torus lateralis' SubClassOf 'part_of' some 'brain' http://purl.obolibrary.org/obo/UBERON_0004193 loop of Henle ascending limb thin segment 'loop of Henle ascending limb thin segment' SubClassOf 'part_of' some 'nephron tubule' http://purl.obolibrary.org/obo/MONDO_0000515 bone chondrosarcoma 'bone chondrosarcoma' SubClassOf 'bone cancer' 'bone chondrosarcoma' SubClassOf 'Malignant Bone Neoplasm' http://purl.obolibrary.org/obo/UBERON_0004134 proximal tubule 'proximal tubule' SubClassOf 'part_of' some 'nephron tubule' http://purl.obolibrary.org/obo/UBERON_0004135 distal tubule 'distal tubule' SubClassOf 'part_of' some 'nephron tubule' http://purl.obolibrary.org/obo/UBERON_0004141 heart tube 'heart tube' SubClassOf 'part_of' some 'embryonic structure' 'heart tube' SubClassOf 'part_of' some 'multicellular organism' http://www.orpha.net/ORDO/Orphanet_99776 Mosaic trisomy 9 'Mosaic trisomy 9' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0700062 http://purl.obolibrary.org/obo/MONDO_0024502 gallbladder neuroendocrine neoplasm 'gallbladder neuroendocrine neoplasm' SubClassOf 'inherited neuroendocrine tumor' 'gallbladder neuroendocrine neoplasm' SubClassOf 'Genetic endocrine tumor' http://www.ebi.ac.uk/efo/EFO_1002023 plantar wart 'plantar wart' SubClassOf 'common wart' 'plantar wart' EquivalentTo 'disease' and ('has_disease_location' some ('pes' or ('part_of' some 'pes'))) 'plantar wart' SubClassOf 'has_disease_location' some ('pes' or ('part_of' some 'pes')) 'plantar wart' SubClassOf 'skin disease caused by infection' http://www.ebi.ac.uk/efo/EFO_1002031 Hodgkins lymphoma, mixed cellularity 'Hodgkins lymphoma, mixed cellularity' SubClassOf 'classic Hodgkin lymphoma' 'Hodgkins lymphoma, mixed cellularity' SubClassOf 'classic Hodgkin lymphoma' http://www.orpha.net/ORDO/Orphanet_85193 Idiopathic juvenile osteoporosis 'Idiopathic juvenile osteoporosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700007 http://www.ebi.ac.uk/efo/EFO_0007226 coxsackievirus infectious disease 'coxsackievirus infectious disease' SubClassOf 'Enterovirus infectious disease' 'coxsackievirus infectious disease' SubClassOf 'infectious disease' http://purl.obolibrary.org/obo/UBERON_2000549 posttemporal 'posttemporal' SubClassOf 'part_of' some 'head' 'posttemporal' SubClassOf 'part_of' some 'cranium' 'posttemporal' SubClassOf 'part_of' some 'appendicular skeleton' 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 'Benign Ovarian Neoplasm' http://www.ebi.ac.uk/efo/EFO_0007236 diffuse idiopathic skeletal hyperostosis 'diffuse idiopathic skeletal hyperostosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700007 http://purl.obolibrary.org/obo/UBERON_2000599 torus semicircularis 'torus semicircularis' SubClassOf 'part_of' some 'nervous system' http://www.ebi.ac.uk/efo/EFO_0007292 Guillain-Barre syndrome 'Guillain-Barre syndrome' SubClassOf 'acute and subacute inflammatory demyelinating polyneuropathy' 'Guillain-Barre syndrome' SubClassOf 'autoimmune neuropathy' 'Guillain-Barre syndrome' SubClassOf 'autoimmune disease of peripheral nervous system' http://www.ebi.ac.uk/efo/EFO_0007282 genital herpes 'genital herpes' SubClassOf 'male reproductive system disease' 'genital herpes' SubClassOf 'disease arising from reactivation of latent infection with virus' http://purl.obolibrary.org/obo/UBERON_0006603 presumptive mesoderm 'presumptive mesoderm' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0006601 presumptive ectoderm 'presumptive ectoderm' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0006600 presumptive enteric nervous system 'presumptive enteric nervous system' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0004064 neural tube basal plate 'neural tube basal plate' SubClassOf 'part_of' some 'embryo' http://purl.obolibrary.org/obo/UBERON_0004068 medial nasal prominence 'medial nasal prominence' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0004067 lateral nasal prominence 'lateral nasal prominence' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0004086 brain ventricle 'brain ventricle' SubClassOf 'part_of' some 'brain' 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://www.orpha.net/ORDO/Orphanet_309803 Rhizomelic chondrodysplasia punctata type 3 'Rhizomelic chondrodysplasia punctata type 3' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100274 http://www.orpha.net/ORDO/Orphanet_199276 Familial multiple lipomatosis 'Familial multiple lipomatosis' SubClassOf 'skin neoplasm' 'Familial multiple lipomatosis' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/UBERON_2000516 periventricular grey zone 'periventricular grey zone' SubClassOf 'part_of' some 'nervous system' http://purl.obolibrary.org/obo/MONDO_0024462 familial cutaneous melanoma 'familial cutaneous melanoma' SubClassOf 'Genetic skin tumor' http://purl.obolibrary.org/obo/UBERON_2000422 retroarticular 'retroarticular' SubClassOf 'part_of' some 'digestive system' 'retroarticular' SubClassOf 'part_of' some 'head' http://purl.obolibrary.org/obo/UBERON_2000419 pterosphenoid 'pterosphenoid' SubClassOf 'part_of' some 'head' 'pterosphenoid' SubClassOf 'part_of' some 'cranium' http://purl.obolibrary.org/obo/UBERON_2000482 caudal tuberal nucleus 'caudal tuberal nucleus' SubClassOf 'part_of' some 'brain' http://purl.obolibrary.org/obo/UBERON_2000475 paraventricular organ 'paraventricular organ' SubClassOf 'part_of' some 'brain' http://www.ebi.ac.uk/efo/EFO_0007143 alveolar soft part sarcoma 'alveolar soft part sarcoma' SubClassOf 'head and neck neoplasia' 'alveolar soft part sarcoma' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0007149 appendicitis 'appendicitis' SubClassOf 'diverticulitis of colon' 'appendicitis' SubClassOf 'colitis' 'appendicitis' SubClassOf 'inflammatory bowel disease' 'appendicitis' SubClassOf 'cecal disease' 'appendicitis' SubClassOf 'diverticulitis' http://www.ebi.ac.uk/efo/EFO_0007134 adenosarcoma 'adenosarcoma' SubClassOf 'carcinoma' 'adenosarcoma' SubClassOf 'female reproductive organ cancer' 'adenosarcoma' SubClassOf 'Genital neoplasm, female' http://www.ebi.ac.uk/efo/EFO_0007160 autoimmune thrombocytopenic purpura 'autoimmune thrombocytopenic purpura' SubClassOf 'inherited bleeding disorder, platelet-type' 'autoimmune thrombocytopenic purpura' SubClassOf 'inherited thrombocytopenia' 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 'congenital nervous system disorder' '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 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_3205 Sturge-Weber syndrome 'Sturge-Weber syndrome' SubClassOf 'bone neoplasm' 'Sturge-Weber syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Sturge-Weber syndrome' SubClassOf 'brain neoplasm' 'Sturge-Weber syndrome' SubClassOf 'congenital nervous system disorder' 'Sturge-Weber syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' http://purl.obolibrary.org/obo/UBERON_0006595 presumptive endoderm 'presumptive endoderm' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0006596 presumptive blood 'presumptive blood' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0006599 presumptive hypochord 'presumptive hypochord' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0006597 quadrate bone 'quadrate bone' SubClassOf 'part_of' some 'digestive system' 'quadrate bone' SubClassOf 'part_of' some 'head' http://purl.obolibrary.org/obo/MONDO_0002912 brainstem cancer 'brainstem cancer' SubClassOf 'brainstem neoplasm' 'brainstem cancer' SubClassOf 'brain stem neoplasm' http://www.orpha.net/ORDO/Orphanet_3226 Deafness - lymphedema - leukemia 'Deafness - lymphedema - leukemia' SubClassOf 'head and neck neoplasia' http://www.orpha.net/ORDO/Orphanet_3233 Cochleosaccular degeneration - cataract 'Cochleosaccular degeneration - cataract' SubClassOf 'Syndromic cataract' 'Cochleosaccular degeneration - cataract' SubClassOf http://purl.obolibrary.org/obo/MONDO_0022672 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 'Malignant Bone Neoplasm' http://purl.obolibrary.org/obo/MONDO_0024317 chronic pain syndrome 'chronic pain syndrome' SubClassOf 'disorder involving pain' 'chronic pain syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700057 http://www.ebi.ac.uk/efo/EFO_0009709 metastatic neoplasm 'metastatic neoplasm' SubClassOf 'neoplasm' http://purl.obolibrary.org/obo/MONDO_0000376 respiratory system cancer 'respiratory system cancer' SubClassOf 'respiratory system neoplasm' http://www.orpha.net/ORDO/Orphanet_319340 Carney complex-trismus-pseudocamptodactyly syndrome 'Carney complex-trismus-pseudocamptodactyly syndrome' SubClassOf 'bone neoplasm' http://purl.obolibrary.org/obo/MONDO_0000382 respiratory system benign neoplasm 'respiratory system benign neoplasm' SubClassOf 'respiratory system neoplasm' http://purl.obolibrary.org/obo/MONDO_0024351 familial pityriasis rubra pilaris 'familial pityriasis rubra pilaris' SubClassOf 'Pityriasis rubra pilaris' 'familial pityriasis rubra pilaris' SubClassOf 'Genetic erythrokeratoderma' 'familial pityriasis rubra pilaris' SubClassOf 'erythrokeratoderma' 'familial pityriasis rubra pilaris' SubClassOf 'exanthem' 'familial pityriasis rubra pilaris' EquivalentTo 'Pityriasis rubra pilaris' and ('has modifier' some 'inherited') 'familial pityriasis rubra pilaris' SubClassOf 'genetic skin disease' 'familial pityriasis rubra pilaris' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0024341 retinal cell neoplasm 'retinal cell neoplasm' SubClassOf 'retina neoplasm' 'retinal cell neoplasm' SubClassOf 'Retinal Neoplasm' http://www.ebi.ac.uk/efo/EFO_0007463 renal tuberculosis 'renal tuberculosis' SubClassOf 'urinary tract infection' 'renal tuberculosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0005247 http://www.ebi.ac.uk/efo/EFO_0007466 retroperitoneal cancer 'retroperitoneal cancer' SubClassOf 'carcinoma' http://purl.obolibrary.org/obo/UBERON_0004639 renal afferent arteriole 'renal afferent arteriole' SubClassOf 'blood vessel' 'renal afferent arteriole' SubClassOf 'part_of' some 'abdomen' 'renal afferent arteriole' SubClassOf 'part_of' some 'trunk' http://purl.obolibrary.org/obo/UBERON_0004648 esophagus muscularis mucosa 'esophagus muscularis mucosa' SubClassOf 'part_of' some 'esophagus' http://purl.obolibrary.org/obo/UBERON_0004640 renal efferent arteriole 'renal efferent arteriole' SubClassOf 'part_of' some 'abdomen' 'renal efferent arteriole' SubClassOf 'part_of' some 'trunk' http://www.ebi.ac.uk/efo/EFO_0007483 sex cord-gonadal stromal tumor 'sex cord-gonadal stromal tumor' SubClassOf 'urogenital neoplasm' http://www.ebi.ac.uk/efo/EFO_0007491 spleen cancer 'spleen cancer' SubClassOf 'carcinoma' http://purl.obolibrary.org/obo/MONDO_0012197 idiopathic aplastic anemia 'idiopathic aplastic anemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700007 http://purl.obolibrary.org/obo/UBERON_0002031 epithelium of bronchus 'epithelium of bronchus' SubClassOf 'part_of' some 'respiratory tract' http://purl.obolibrary.org/obo/UBERON_0002037 cerebellum 'cerebellum' SubClassOf 'part_of' some 'hindbrain' 'cerebellum' SubClassOf 'part_of' some 'nervous system' http://purl.obolibrary.org/obo/UBERON_0002038 substantia nigra 'substantia nigra' SubClassOf 'part_of' some 'brain' http://purl.obolibrary.org/obo/UBERON_0002034 suprachiasmatic nucleus 'suprachiasmatic nucleus' SubClassOf 'part_of' some 'brain' http://purl.obolibrary.org/obo/UBERON_0002048 lung 'lung' SubClassOf 'part_of' some 'trunk' http://purl.obolibrary.org/obo/UBERON_0002043 dorsal raphe nucleus 'dorsal raphe nucleus' SubClassOf 'part_of' some 'brain' http://purl.obolibrary.org/obo/UBERON_0002046 thyroid gland 'thyroid gland' SubClassOf 'part_of' some 'endocrine system' http://purl.obolibrary.org/obo/UBERON_0002051 epithelium of bronchiole 'epithelium of bronchiole' SubClassOf 'part_of' some 'bronchiole' 'epithelium of bronchiole' SubClassOf 'part_of' some 'respiratory tract' 'epithelium of bronchiole' SubClassOf 'part_of' some 'respiratory system' http://purl.obolibrary.org/obo/UBERON_0002067 dermis 'dermis' SubClassOf 'part_of' some 'integumental system' http://purl.obolibrary.org/obo/UBERON_0002012 pulmonary artery 'pulmonary artery' SubClassOf 'blood vessel' http://purl.obolibrary.org/obo/UBERON_0002028 hindbrain 'hindbrain' SubClassOf 'part_of' some 'nervous system' 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://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://www.ebi.ac.uk/efo/EFO_0007411 Orthomyxoviridae infectious disease 'Orthomyxoviridae infectious disease' SubClassOf 'primary viral infectious disease' 'Orthomyxoviridae infectious disease' SubClassOf 'viral disease' http://www.ebi.ac.uk/efo/EFO_0007416 pancreatic endocrine carcinoma 'pancreatic endocrine carcinoma' SubClassOf 'pancreatic carcinoma' http://www.ebi.ac.uk/efo/EFO_0007322 idiopathic CD4-positive T-lymphocytopenia 'idiopathic CD4-positive T-lymphocytopenia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700007 http://www.ebi.ac.uk/efo/EFO_0007328 influenza 'influenza' SubClassOf 'primary viral infectious disease' http://www.ebi.ac.uk/efo/EFO_0007330 intestinal cancer 'intestinal cancer' SubClassOf 'carcinoma' http://www.ebi.ac.uk/efo/EFO_0007336 Langerhans cell sarcoma 'Langerhans cell sarcoma' SubClassOf 'myeloid neoplasm' http://www.ebi.ac.uk/efo/EFO_0007362 mediastinal cancer 'mediastinal cancer' SubClassOf 'carcinoma' http://www.ebi.ac.uk/efo/EFO_0007355 male reproductive organ cancer 'male reproductive organ cancer' SubClassOf 'carcinoma' http://www.ebi.ac.uk/efo/EFO_0007384 muscle cancer 'muscle cancer' SubClassOf 'carcinoma' http://www.ebi.ac.uk/efo/EFO_0007392 nervous system cancer 'nervous system cancer' SubClassOf 'carcinoma' http://purl.obolibrary.org/obo/UBERON_0016552 phlegm 'phlegm' SubClassOf 'anatomical entity' 'phlegm' SubClassOf 'bodily fluid' http://purl.obolibrary.org/obo/UBERON_0016540 occipital cortex 'occipital cortex' SubClassOf 'part_of' some 'telencephalon' 'occipital cortex' SubClassOf 'part_of' some 'brain' 'occipital cortex' SubClassOf 'part_of' some 'forebrain' 'occipital cortex' SubClassOf 'part_of' some 'central nervous system' http://www.orpha.net/ORDO/Orphanet_295195 Synpolydactyly type 1 'Synpolydactyly type 1' SubClassOf 'Syndactyly type 2' 'Synpolydactyly type 1' SubClassOf 'Syndactyly type 2' http://www.orpha.net/ORDO/Orphanet_356996 Intellectual disability - hypotonia - spasticity - sleep disorder 'Intellectual disability - hypotonia - spasticity - sleep disorder' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0002715 uterine cancer 'uterine cancer' SubClassOf 'female reproductive organ cancer' 'uterine cancer' SubClassOf 'Genital neoplasm, female' http://www.ebi.ac.uk/efo/EFO_0009907 Desmoid-type fibromatosis 'Desmoid-type fibromatosis' SubClassOf 'fibromatosis' 'Desmoid-type fibromatosis' SubClassOf 'hereditary connective tissue disorder' 'Desmoid-type fibromatosis' SubClassOf 'Soft Tissue Neoplasm' 'Desmoid-type fibromatosis' SubClassOf 'fibromatosis' 'Desmoid-type fibromatosis' SubClassOf 'Genetic soft tissue tumor' http://purl.obolibrary.org/obo/MONDO_0014743 rhizomelic chondrodysplasia punctata type 5 'rhizomelic chondrodysplasia punctata type 5' SubClassOf 'Rhizomelic chondrodysplasia punctata' 'rhizomelic chondrodysplasia punctata type 5' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100265 http://www.ebi.ac.uk/efo/EFO_0009913 ossifying fibroma of the jaw 'ossifying fibroma of the jaw' SubClassOf 'mouth neoplasm' http://www.orpha.net/ORDO/Orphanet_99361 Familial medullary thyroid carcinoma 'Familial medullary thyroid carcinoma' SubClassOf 'inherited neuroendocrine tumor' 'Familial medullary thyroid carcinoma' SubClassOf 'Genetic endocrine tumor' http://purl.obolibrary.org/obo/UBERON_6005037 insect tracheal primordium 'insect tracheal primordium' SubClassOf 'part_of' some 'embryo' http://www.ebi.ac.uk/efo/EFO_0005045 visceral Leishmaniasis 'visceral Leishmaniasis' SubClassOf 'disorder by anatomical region' 'visceral Leishmaniasis' SubClassOf 'disease by anatomical system' 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 'Peroxisomal beta-oxidation disorder' http://www.ebi.ac.uk/efo/EFO_0005088 testicular carcinoma 'testicular carcinoma' SubClassOf 'carcinoma' http://www.orpha.net/ORDO/Orphanet_163690 Hypotonia - cystinuria syndrome 'Hypotonia - cystinuria syndrome' SubClassOf 'Hypotonia - cystinuria type 1' 'Hypotonia - cystinuria syndrome' SubClassOf 'Hypotonia - cystinuria type 1' http://www.orpha.net/ORDO/Orphanet_163634 Maffucci syndrome 'Maffucci syndrome' SubClassOf 'Genetic skin vascular disorder' http://www.orpha.net/ORDO/Orphanet_100071 Mosaic trisomy 3 'Mosaic trisomy 3' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0700062 http://www.orpha.net/ORDO/Orphanet_163649 Spondyloepiphyseal dysplasia, Nishimura type 'Spondyloepiphyseal dysplasia, Nishimura type' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/UBERON_0016405 pulmonary capillary 'pulmonary capillary' SubClassOf 'part_of' some 'lung' http://www.orpha.net/ORDO/Orphanet_100094 Multiple polyglandular tumor 'Multiple polyglandular tumor' SubClassOf 'Genetic endocrine tumor' 'Multiple polyglandular tumor' SubClassOf 'Genetic polyendocrinopathy' http://purl.obolibrary.org/obo/UBERON_2000096 cardinal system 'cardinal system' SubClassOf 'part_of' some 'cardiovascular system' 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 'encephalopathy due to mitochondrial and peroxisomal fission defect' 'Lethal encephalopathy due to mitochondrial and peroxisomal fission defect' SubClassOf 'encephalopathy due to mitochondrial and peroxisomal fission defect' http://purl.obolibrary.org/obo/MONDO_0002633 cranial nerve neoplasm 'cranial nerve neoplasm' SubClassOf 'peripheral nervous system neoplasm' 'cranial nerve neoplasm' SubClassOf 'tumour of cranial and spinal nerves' http://purl.obolibrary.org/obo/MONDO_0002630 small cell osteogenic sarcoma 'small cell osteogenic sarcoma' SubClassOf 'bone cancer' 'small cell osteogenic sarcoma' SubClassOf 'Malignant Bone Neoplasm' http://purl.obolibrary.org/obo/UBERON_0004363 pharyngeal arch artery 'pharyngeal arch artery' SubClassOf 'respiratory system blood vessel' 'pharyngeal arch artery' SubClassOf 'part_of' some 'head' 'pharyngeal arch artery' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/MONDO_0002547 nerve sheath neoplasm 'nerve sheath neoplasm' SubClassOf 'peripheral nervous system neoplasm' 'nerve sheath neoplasm' SubClassOf 'tumour of cranial and spinal nerves' http://www.ebi.ac.uk/efo/EFO_0007521 Trichomonas vaginitis 'Trichomonas vaginitis' SubClassOf 'urinary tract infection (disease)' 'Trichomonas vaginitis' SubClassOf 'urinary tract infection' http://www.ebi.ac.uk/efo/EFO_0007549 Zollinger-Ellison Syndrome 'Zollinger-Ellison Syndrome' SubClassOf 'pancreatic neoplasm' http://www.ebi.ac.uk/efo/EFO_0007532 uterine corpus cancer 'uterine corpus cancer' SubClassOf 'uterine carcinoma' http://www.ebi.ac.uk/efo/EFO_0007530 urinary schistosomiasis 'urinary schistosomiasis' SubClassOf 'urinary tract infection (disease)' 'urinary schistosomiasis' SubClassOf 'urinary tract infection' http://purl.obolibrary.org/obo/UBERON_0001103 diaphragm 'diaphragm' SubClassOf 'part_of' some 'trunk' http://purl.obolibrary.org/obo/UBERON_0001111 intercostal muscle 'intercostal muscle' SubClassOf 'part_of' some 'trunk' http://purl.obolibrary.org/obo/UBERON_0001132 parathyroid gland 'parathyroid gland' SubClassOf 'part_of' some 'endocrine system' http://purl.obolibrary.org/obo/MONDO_0022800 collagenopathy type 2 alpha 1 'collagenopathy type 2 alpha 1' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_1001512 endometrial carcinoma 'endometrial carcinoma' EquivalentTo 'carcinoma' and ('has_disease_location' some 'endometrium') 'endometrial carcinoma' SubClassOf 'endometrial neoplasm' 'endometrial carcinoma' SubClassOf 'has_disease_location' some 'endometrium' http://www.ebi.ac.uk/efo/EFO_1001517 renal fibrosis 'renal fibrosis' SubClassOf 'kidney neoplasm' http://www.ebi.ac.uk/efo/EFO_1001515 ovarian endometrioid carcinoma 'ovarian endometrioid carcinoma' SubClassOf 'ovarian neoplasm' 'ovarian endometrioid carcinoma' SubClassOf 'ovarian disease' http://www.ebi.ac.uk/efo/EFO_1001513 liver neoplasm 'liver neoplasm' EquivalentTo 'neoplasm' and ('has_disease_location' some ('liver' or ('part_of' some 'liver'))) 'liver neoplasm' SubClassOf 'has_disease_location' some ('liver' or ('part_of' some 'liver')) http://purl.obolibrary.org/obo/UBERON_0001143 hepatic vein 'hepatic vein' SubClassOf 'part_of' some 'trunk' http://purl.obolibrary.org/obo/UBERON_0001153 caecum 'caecum' SubClassOf 'part_of' some 'large intestine' http://www.orpha.net/ORDO/Orphanet_34515 Autosomal recessive limb-girdle muscular dystrophy type 2I 'Autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700066 http://www.orpha.net/ORDO/Orphanet_2604 Familial visceral myopathy 'Familial visceral myopathy' SubClassOf 'Megacystis-microcolon-intestinal hypoperistalsis syndrome' 'Familial visceral myopathy' SubClassOf 'intestinal motility disease' 'Familial visceral myopathy' SubClassOf 'Congenital intestinal motility disorder' http://purl.obolibrary.org/obo/UBERON_0001003 skin epidermis 'skin epidermis' SubClassOf 'anatomical structure' 'skin epidermis' SubClassOf 'epithelium' 'skin epidermis' SubClassOf 'part_of' some 'multicellular organism' http://purl.obolibrary.org/obo/UBERON_0003663 hindlimb muscle 'hindlimb muscle' SubClassOf 'part_of' some 'limb' 'hindlimb muscle' SubClassOf 'part_of' some 'hindlimb' http://purl.obolibrary.org/obo/UBERON_6005436 insect trunk mesoderm anlage 'insect trunk mesoderm anlage' SubClassOf 'part_of' some 'embryo' http://purl.obolibrary.org/obo/UBERON_6005434 insect visual anlage 'insect visual anlage' SubClassOf 'part_of' some 'embryo' http://www.ebi.ac.uk/efo/EFO_0001642 lymphoid neoplasm 'lymphoid neoplasm' SubClassOf 'cancer' http://purl.obolibrary.org/obo/UBERON_0001083 myocardium of ventricle 'myocardium of ventricle' SubClassOf 'part_of' some 'cardiac ventricle' http://purl.obolibrary.org/obo/UBERON_0003690 fused sacrum 'fused sacrum' SubClassOf 'part_of' some 'trunk' http://purl.obolibrary.org/obo/UBERON_0001037 strand of hair 'strand of hair' SubClassOf 'part_of' some 'multicellular organism' http://purl.obolibrary.org/obo/UBERON_0001043 esophagus 'esophagus' SubClassOf 'part_of' some 'trunk' http://purl.obolibrary.org/obo/UBERON_0001044 saliva-secreting gland 'saliva-secreting gland' SubClassOf 'part_of' some 'digestive system' 'saliva-secreting gland' SubClassOf 'part_of' some 'anatomical system' http://purl.obolibrary.org/obo/MONDO_0007145 aplasia cutis congenita (disease) 'aplasia cutis congenita (disease)' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0020122 idiopathic inflammatory myopathy 'idiopathic inflammatory myopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700007 'idiopathic inflammatory myopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0600023 http://www.orpha.net/ORDO/Orphanet_2576 MULIBREY nanism 'MULIBREY nanism' SubClassOf 'has modifier' some 'rare' 'MULIBREY nanism' SubClassOf 'congenital nervous system disorder' 'MULIBREY nanism' SubClassOf 'Developmental anomaly of metabolic origin' 'MULIBREY nanism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100306 http://www.ebi.ac.uk/efo/EFO_1001336 Hammer Toe Syndrome 'Hammer Toe Syndrome' SubClassOf 'plantar wart' http://www.ebi.ac.uk/efo/EFO_1001331 Genital neoplasm, female 'Genital neoplasm, female' SubClassOf 'female reproductive system disease' 'Genital neoplasm, female' SubClassOf 'urogenital neoplasm' 'Genital neoplasm, female' SubClassOf 'female reproductive system neoplasm' 'Genital neoplasm, female' SubClassOf 'reproductive system cancer' http://purl.obolibrary.org/obo/UBERON_0003512 lung blood vessel 'lung blood vessel' SubClassOf 'part_of' some 'trunk' http://purl.obolibrary.org/obo/UBERON_2001051 caudal division of the internal carotid artery 'caudal division of the internal carotid artery' SubClassOf 'blood vessel' 'caudal division of the internal carotid artery' SubClassOf 'part_of' some 'head' http://purl.obolibrary.org/obo/UBERON_2001059 cranial division of the internal carotid artery 'cranial division of the internal carotid artery' SubClassOf 'blood vessel' 'cranial division of the internal carotid artery' SubClassOf 'part_of' some 'head' http://www.orpha.net/ORDO/Orphanet_240760 Nijmegen breakage syndrome-like disorder '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' 'Nijmegen breakage syndrome-like disorder' SubClassOf 'DNA repair defect other than combined T-cell and B-cell immunodeficiencies' http://www.orpha.net/ORDO/Orphanet_2869 Peutz-Jeghers syndrome 'Peutz-Jeghers syndrome' SubClassOf 'Genetic hyperpigmentation of the skin' 'Peutz-Jeghers syndrome' SubClassOf 'Pigmented conjunctival lesion' 'Peutz-Jeghers syndrome' SubClassOf 'Palpebral lentiginosis' http://purl.obolibrary.org/obo/MONDO_0019086 carcinoma of esophagus 'carcinoma of esophagus' SubClassOf 'esophageal cancer' 'carcinoma of esophagus' SubClassOf 'Digestive System Carcinoma' http://www.orpha.net/ORDO/Orphanet_2897 Pityriasis rubra pilaris 'Pityriasis rubra pilaris' SubClassOf 'exanthem' 'Pityriasis rubra pilaris' SubClassOf 'erythrokeratoderma' 'Pityriasis rubra pilaris' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100017 http://www.orpha.net/ORDO/Orphanet_2849 Perlman syndrome 'Perlman syndrome' SubClassOf 'kidney neoplasm' http://www.ebi.ac.uk/efo/EFO_1001437 Tracheal neoplasm 'Tracheal neoplasm' SubClassOf 'respiratory tract neoplasm' 'Tracheal neoplasm' SubClassOf 'respiratory system neoplasm' http://www.ebi.ac.uk/efo/EFO_1001442 cardiac tuberculosis 'cardiac tuberculosis' SubClassOf 'inflammatory disease' http://www.orpha.net/ORDO/Orphanet_71517 Rapid-onset dystonia-parkinsonism 'Rapid-onset dystonia-parkinsonism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700002 http://www.ebi.ac.uk/efo/EFO_1001459 diabetic foot 'diabetic foot' SubClassOf 'plantar wart' 'diabetic foot' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_1001469 Mantle cell lymphoma 'Mantle cell lymphoma' EquivalentTo 'lymphoma' and ('has_disease_location' some 'mantle cell') 'Mantle cell lymphoma' SubClassOf 'has_disease_location' some 'mantle cell' http://purl.obolibrary.org/obo/PATO_0001340 hermaphrodite 'hermaphrodite' SubClassOf 'sex' 'hermaphrodite' SubClassOf http://purl.obolibrary.org/obo/PATO_0001894 http://purl.obolibrary.org/obo/UBERON_0003499 brain blood vessel 'brain blood vessel' SubClassOf 'part_of' some 'brain' http://purl.obolibrary.org/obo/UBERON_0003454 small intestine Peyer's patch 'small intestine Peyer's patch' SubClassOf 'part_of' some 'small intestine' http://purl.obolibrary.org/obo/UBERON_0003469 respiratory system artery 'respiratory system artery' SubClassOf 'respiratory system blood vessel' http://purl.obolibrary.org/obo/UBERON_0003464 hindlimb bone 'hindlimb bone' SubClassOf 'part_of' some 'limb' 'hindlimb bone' SubClassOf 'part_of' some 'hindlimb' 'hindlimb bone' SubClassOf 'part_of' some 'anatomical system' 'hindlimb bone' SubClassOf 'part_of' some 'appendicular skeleton' 'hindlimb bone' SubClassOf 'part_of' some 'skeletal system' http://purl.obolibrary.org/obo/MONDO_0009578 neurocutaneous melanocytosis 'neurocutaneous melanocytosis' SubClassOf 'Genetic skin tumor' 'neurocutaneous melanocytosis' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_166286 Porokeratotic eccrine ostial and dermal duct nevus 'Porokeratotic eccrine ostial and dermal duct nevus' SubClassOf 'Genetic skin tumor' http://www.orpha.net/ORDO/Orphanet_2721 Odonto-onycho-dermal dysplasia 'Odonto-onycho-dermal dysplasia' SubClassOf 'Ectodermal dysplasia syndrome' 'Odonto-onycho-dermal dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100358 http://www.ebi.ac.uk/efo/EFO_1001106 pigmented villonodular synovitis 'pigmented villonodular synovitis' SubClassOf 'synovitis (disease)' 'pigmented villonodular synovitis' SubClassOf 'synovitis' 'pigmented villonodular synovitis' SubClassOf 'synovitis' http://purl.obolibrary.org/obo/UBERON_0001540 peroneal artery 'peroneal artery' SubClassOf 'part_of' some 'limb' 'peroneal artery' SubClassOf 'part_of' some 'appendage' http://www.ebi.ac.uk/efo/EFO_1001129 proliferative vitreoretinopathy 'proliferative vitreoretinopathy' SubClassOf 'Vitreoretinopathy' 'proliferative vitreoretinopathy' SubClassOf 'vitreous disease' 'proliferative vitreoretinopathy' SubClassOf 'Vitreoretinal degeneration' http://www.ebi.ac.uk/efo/EFO_1001133 pulmonary coin lesion 'pulmonary coin lesion' SubClassOf 'respiratory system neoplasm' 'pulmonary coin lesion' SubClassOf 'benign neoplasm' http://www.ebi.ac.uk/efo/EFO_1001141 pyelonephritis 'pyelonephritis' SubClassOf 'urinary tract infection' 'pyelonephritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0005247 http://www.orpha.net/ORDO/Orphanet_2197 Idiopathic hypercalciuria 'Idiopathic hypercalciuria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700007 http://www.orpha.net/ORDO/Orphanet_2157 Histidinemia 'Histidinemia' SubClassOf 'histidine metabolism disease' http://www.orpha.net/ORDO/Orphanet_2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome 'Megacystis-microcolon-intestinal hypoperistalsis syndrome' SubClassOf 'intestinal motility disease' 'Megacystis-microcolon-intestinal hypoperistalsis syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'Megacystis-microcolon-intestinal hypoperistalsis syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Megacystis-microcolon-intestinal hypoperistalsis syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 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 'DNA repair defect other than combined T-cell and B-cell immunodeficiencies' http://www.orpha.net/ORDO/Orphanet_2209 Maternal hyperphenylalaninemia 'Maternal hyperphenylalaninemia' SubClassOf 'genetic otorhinolaryngologic disease' http://www.ebi.ac.uk/efo/EFO_1001032 malignant lymphatic vessel tumor 'malignant lymphatic vessel tumor' SubClassOf 'lymphatic system disease' http://purl.obolibrary.org/obo/UBERON_0001621 coronary artery 'coronary artery' SubClassOf 'heart component' 'coronary artery' SubClassOf 'part_of' some 'trunk' 'coronary artery' SubClassOf 'part_of' some 'heart' 'coronary artery' SubClassOf 'part_of' some 'thoracic segment of trunk' http://purl.obolibrary.org/obo/UBERON_0001637 artery 'artery' SubClassOf 'anatomical structure' 'artery' SubClassOf 'blood vessel' http://www.ebi.ac.uk/efo/EFO_1001042 mesenchymoma 'mesenchymoma' SubClassOf 'cancer' http://www.ebi.ac.uk/efo/EFO_1001070 ocular tuberculosis 'ocular tuberculosis' SubClassOf 'eye disease' 'ocular tuberculosis' SubClassOf 'eye infectious disease' http://www.ebi.ac.uk/efo/EFO_1001079 oxyphilic adenoma 'oxyphilic adenoma' SubClassOf 'adenoma' 'oxyphilic adenoma' SubClassOf 'oncocytic neoplasm' 'oxyphilic adenoma' EquivalentTo 'oncocytic neoplasm' and 'adenoma' http://www.ebi.ac.uk/efo/EFO_1001080 Pancoast tumor 'Pancoast tumor' SubClassOf 'lung carcinoma' http://www.ebi.ac.uk/efo/EFO_1001204 sweat gland neoplasm 'sweat gland neoplasm' EquivalentTo 'neoplasm' and ('has_disease_location' some 'sweat gland') 'sweat gland neoplasm' SubClassOf 'has_disease_location' some 'sweat gland' http://purl.obolibrary.org/obo/UBERON_0001473 lymphatic vessel 'lymphatic vessel' SubClassOf 'part_of' some 'lymphatic part of lymphoid system' http://www.ebi.ac.uk/efo/EFO_1001214 tonsil cancer 'tonsil cancer' SubClassOf 'carcinoma' http://purl.obolibrary.org/obo/UBERON_0001495 pectoral muscle 'pectoral muscle' SubClassOf 'part_of' some 'trunk' 'pectoral muscle' SubClassOf 'part_of' some 'anatomical system' http://purl.obolibrary.org/obo/UBERON_0001423 radius bone 'radius bone' SubClassOf 'part_of' some 'anatomical system' 'radius bone' SubClassOf 'part_of' some 'limb' 'radius bone' SubClassOf 'part_of' some 'forelimb zeugopod' 'radius bone' SubClassOf 'part_of' some 'forelimb' 'radius bone' SubClassOf 'part_of' some 'skeletal system' http://purl.obolibrary.org/obo/UBERON_0001446 fibula 'fibula' SubClassOf 'part_of' some 'limb' 'fibula' SubClassOf 'part_of' some 'anatomical system' 'fibula' SubClassOf 'part_of' some 'hindlimb' 'fibula' SubClassOf 'part_of' some 'skeletal system' http://purl.obolibrary.org/obo/UBERON_0001450 calcaneus 'calcaneus' SubClassOf 'part_of' some 'pes' 'calcaneus' SubClassOf 'part_of' some 'hindlimb' 'calcaneus' SubClassOf 'part_of' some 'limb' 'calcaneus' SubClassOf 'part_of' some 'tarsal region' http://www.orpha.net/ORDO/Orphanet_2077 German syndrome 'German syndrome' SubClassOf 'Milroy disease' http://www.orpha.net/ORDO/Orphanet_2128 Hemihypertrophy 'Hemihypertrophy' SubClassOf 'Macroglossia' 'Hemihypertrophy' SubClassOf 'Macroglossia' http://purl.obolibrary.org/obo/MONDO_0009346 histidinuria due to a renal tubular defect 'histidinuria due to a renal tubular defect' SubClassOf 'Disorder of histidine metabolism' http://purl.obolibrary.org/obo/UBERON_0001507 biceps brachii 'biceps brachii' SubClassOf 'part_of' some 'forelimb' 'biceps brachii' SubClassOf 'part_of' some 'arm' 'biceps brachii' SubClassOf 'part_of' some 'limb' 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 'rare' 'Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes' SubClassOf 'generalised epilepsy' http://www.ebi.ac.uk/efo/EFO_1001186 Sneddon syndrome 'Sneddon syndrome' SubClassOf 'disease of central nervous system or retinal vasculature' 'Sneddon syndrome' SubClassOf 'autoimmune disease of the nervous system' 'Sneddon syndrome' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Sneddon syndrome' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'Sneddon syndrome' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/UBERON_0001532 internal carotid artery 'internal carotid artery' SubClassOf 'blood vessel' 'internal carotid artery' SubClassOf 'part_of' some 'head' http://purl.obolibrary.org/obo/UBERON_0001359 cerebrospinal fluid 'cerebrospinal fluid' SubClassOf 'bodily fluid' http://purl.obolibrary.org/obo/UBERON_0001377 quadriceps femoris 'quadriceps femoris' SubClassOf 'part_of' some 'hindlimb' http://purl.obolibrary.org/obo/UBERON_0001379 vastus lateralis 'vastus lateralis' SubClassOf 'part_of' some 'quadriceps femoris' http://purl.obolibrary.org/obo/UBERON_0001374 biceps femoris 'biceps femoris' SubClassOf 'part_of' some 'hindlimb stylopod' 'biceps femoris' SubClassOf 'part_of' some 'leg' http://www.orpha.net/ORDO/Orphanet_357058 Autosomal recessive cutis laxa type 2A 'Autosomal recessive cutis laxa type 2A' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' http://purl.obolibrary.org/obo/UBERON_0001310 umbilical artery 'umbilical artery' SubClassOf 'blood vessel' http://www.orpha.net/ORDO/Orphanet_107 BOR syndrome 'BOR syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'BOR syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' http://www.orpha.net/ORDO/Orphanet_100 Ataxia-telangiectasia 'Ataxia-telangiectasia' SubClassOf 'DNA repair defect other than combined T-cell and B-cell immunodeficiencies' 'Ataxia-telangiectasia' SubClassOf 'DNA repair defect other than combined T-cell and B-cell immunodeficiencies' http://purl.obolibrary.org/obo/UBERON_6005533 insect ventral epidermis primordium 'insect ventral epidermis primordium' SubClassOf 'part_of' some 'embryo' http://purl.obolibrary.org/obo/UBERON_6005538 insect clypeo-labral primordium 'insect clypeo-labral primordium' SubClassOf 'part_of' some 'embryo' 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 'kidney neoplasm' 'Beckwith-Wiedemann syndrome' SubClassOf 'head and neck neoplasia' 'Beckwith-Wiedemann syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'Beckwith-Wiedemann syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Beckwith-Wiedemann syndrome' SubClassOf 'Macroglossia' 'Beckwith-Wiedemann syndrome' SubClassOf 'urogenital neoplasm' 'Beckwith-Wiedemann syndrome' SubClassOf 'bone neoplasm' http://www.orpha.net/ORDO/Orphanet_113 Bazex-Dupré-Christol syndrome 'Bazex-Dupré-Christol syndrome' SubClassOf 'Congenital absence of the eyebrow/eyelashes' http://purl.obolibrary.org/obo/UBERON_6005526 insect dorsal epidermis primordium 'insect dorsal epidermis primordium' SubClassOf 'part_of' some 'embryo' http://www.orpha.net/ORDO/Orphanet_125 Bloom syndrome 'Bloom syndrome' SubClassOf 'Developmental anomaly of metabolic origin' 'Bloom syndrome' SubClassOf 'head and neck neoplasia' 'Bloom syndrome' SubClassOf 'DNA repair defect other than combined T-cell and B-cell immunodeficiencies' http://www.orpha.net/ORDO/Orphanet_122 Birt-Hogg-Dubé syndrome 'Birt-Hogg-Dubé syndrome' SubClassOf 'Rare genetic respiratory disease' 'Birt-Hogg-Dubé syndrome' SubClassOf 'respiratory system neoplasm' 'Birt-Hogg-Dubé syndrome' SubClassOf 'hamartoma' http://www.orpha.net/ORDO/Orphanet_139 CHILD syndrome 'CHILD syndrome' SubClassOf 'endocrine neoplasm' http://www.orpha.net/ORDO/Orphanet_138 CHARGE syndrome 'CHARGE syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'CHARGE syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' http://www.orpha.net/ORDO/Orphanet_2396 Encephalocraniocutaneous lipomatosis 'Encephalocraniocutaneous lipomatosis' SubClassOf 'Genetic subcutaneous tissue disorder' http://www.orpha.net/ORDO/Orphanet_145 Hereditary breast and ovarian cancer syndrome 'Hereditary breast and ovarian cancer syndrome' SubClassOf 'familial ovarian carcinoma' 'Hereditary breast and ovarian cancer syndrome' SubClassOf 'Rare genetic gynecological and obstetrical diseases' 'Hereditary breast and ovarian cancer syndrome' SubClassOf 'Malignant epithelial tumor of ovary' http://www.orpha.net/ORDO/Orphanet_144 Lynch syndrome 'Lynch syndrome' SubClassOf 'colonic neoplasm' http://purl.obolibrary.org/obo/UBERON_0001388 gastrocnemius 'gastrocnemius' SubClassOf 'part_of' some 'leg' http://purl.obolibrary.org/obo/UBERON_0001389 soleus muscle 'soleus muscle' SubClassOf 'part_of' some 'leg' http://purl.obolibrary.org/obo/UBERON_0001384 primary motor cortex 'primary motor cortex' SubClassOf 'part_of' some 'nervous system' 'primary motor cortex' SubClassOf 'part_of' some 'neocortex' 'primary motor cortex' SubClassOf 'part_of' some 'cerebral cortex' http://purl.obolibrary.org/obo/UBERON_0001385 tibialis anterior 'tibialis anterior' SubClassOf 'part_of' some 'leg' http://www.orpha.net/ORDO/Orphanet_178 Chordoma 'Chordoma' SubClassOf 'Genetic endocrine tumor' http://www.orpha.net/ORDO/Orphanet_201 Cowden syndrome 'Cowden syndrome' SubClassOf 'Genetic digestive tract tumor' 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 'Syndrome or malformation associated with head and neck malformations' http://www.orpha.net/ORDO/Orphanet_2460 Van den Ende-Gupta syndrome 'Van den Ende-Gupta syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Van den Ende-Gupta syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' http://purl.obolibrary.org/obo/UBERON_0001415 skin of pelvis 'skin of pelvis' SubClassOf 'part_of' some 'trunk' http://purl.obolibrary.org/obo/UBERON_0001416 skin of abdomen 'skin of abdomen' SubClassOf 'part_of' some 'trunk' http://purl.obolibrary.org/obo/HP_0025095 Sneeze 'Sneeze' SubClassOf 'Abnormality of the respiratory system' 'Sneeze' SubClassOf 'Constitutional symptom' http://purl.obolibrary.org/obo/UBERON_0003884 CA4 field of hippocampus 'CA4 field of hippocampus' SubClassOf 'part_of' some 'nervous system' http://purl.obolibrary.org/obo/UBERON_0003881 CA1 field of hippocampus 'CA1 field of hippocampus' SubClassOf 'part_of' some 'nervous system' http://purl.obolibrary.org/obo/UBERON_0003883 CA3 field of hippocampus 'CA3 field of hippocampus' SubClassOf 'part_of' some 'nervous system' http://purl.obolibrary.org/obo/UBERON_0003882 CA2 field of hippocampus 'CA2 field of hippocampus' SubClassOf 'part_of' some 'nervous system' http://purl.obolibrary.org/obo/UBERON_0001238 lamina propria of small intestine 'lamina propria of small intestine' SubClassOf 'part_of' some 'alimentary part of gastrointestinal system' 'lamina propria of small intestine' SubClassOf 'part_of' some 'small intestine' http://purl.obolibrary.org/obo/UBERON_0003894 liver primordium 'liver primordium' SubClassOf 'embryonic structure' 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 'otorhinolaryngologic disease' 'Orofacial clefting syndrome' SubClassOf 'disorder of development or morphogenesis' '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 'part_of' some 'urinary bladder' http://purl.obolibrary.org/obo/UBERON_0001255 urinary bladder 'urinary bladder' SubClassOf 'part_of' some 'trunk' http://purl.obolibrary.org/obo/UBERON_0003849 mesencephalic neural crest 'mesencephalic neural crest' SubClassOf 'part_of' some 'embryo' 'mesencephalic neural crest' SubClassOf 'part_of' some 'embryonic structure' http://www.orpha.net/ORDO/Orphanet_213517 Familial ovarian cancer 'Familial ovarian cancer' SubClassOf 'ovarian carcinoma' 'Familial ovarian cancer' SubClassOf 'ovarian cancer' http://purl.obolibrary.org/obo/UBERON_0003851 diencephalon neural crest 'diencephalon neural crest' SubClassOf 'part_of' some 'embryonic structure' 'diencephalon neural crest' SubClassOf 'part_of' some 'embryo' http://purl.obolibrary.org/obo/UBERON_0003850 telencephalon neural crest 'telencephalon neural crest' SubClassOf 'part_of' some 'embryo' 'telencephalon neural crest' SubClassOf 'part_of' some 'embryonic structure' http://www.orpha.net/ORDO/Orphanet_213524 Hereditary site-specific ovarian cancer syndrome 'Hereditary site-specific ovarian cancer syndrome' SubClassOf 'familial ovarian carcinoma' 'Hereditary site-specific ovarian cancer syndrome' SubClassOf 'Rare genetic gynecological and obstetrical diseases' http://purl.obolibrary.org/obo/UBERON_0001263 pancreatic acinus 'pancreatic acinus' SubClassOf 'part_of' some 'gland' http://purl.obolibrary.org/obo/UBERON_0001264 pancreas 'pancreas' SubClassOf 'part_of' some 'anatomical system' http://purl.obolibrary.org/obo/UBERON_0001277 intestinal epithelium 'intestinal epithelium' SubClassOf 'part_of' some 'alimentary part of gastrointestinal system' 'intestinal epithelium' SubClassOf 'part_of' some 'mucosa' 'intestinal epithelium' SubClassOf 'part_of' some 'intestine' http://purl.obolibrary.org/obo/UBERON_0001273 ilium 'ilium' SubClassOf 'part_of' some 'appendicular skeleton' 'ilium' SubClassOf 'part_of' some 'trunk' http://purl.obolibrary.org/obo/UBERON_0001281 hepatic sinusoid 'hepatic sinusoid' SubClassOf 'epithelium' 'hepatic sinusoid' SubClassOf 'part_of' some 'cardiovascular system' 'hepatic sinusoid' SubClassOf 'endothelium' 'hepatic sinusoid' SubClassOf 'part_of' some 'trunk' http://purl.obolibrary.org/obo/UBERON_0001288 loop of Henle 'loop of Henle' SubClassOf 'part_of' some 'nephron tubule' http://purl.obolibrary.org/obo/UBERON_0001289 descending limb of loop of Henle 'descending limb of loop of Henle' SubClassOf 'part_of' some 'nephron tubule' http://purl.obolibrary.org/obo/UBERON_0001287 proximal convoluted tubule 'proximal convoluted tubule' SubClassOf 'part_of' some 'nephron tubule' http://purl.obolibrary.org/obo/UBERON_0001291 thick ascending limb of loop of Henle 'thick ascending limb of loop of Henle' SubClassOf 'part_of' some 'nephron tubule' 'thick ascending limb of loop of Henle' SubClassOf 'part_of' some 'distal tubule' http://purl.obolibrary.org/obo/UBERON_0001292 distal convoluted tubule 'distal convoluted tubule' SubClassOf 'part_of' some 'nephron tubule' http://purl.obolibrary.org/obo/UBERON_0001290 proximal straight tubule 'proximal straight tubule' SubClassOf 'part_of' some 'nephron tubule' http://purl.obolibrary.org/obo/MONDO_0000726 idiopathic scoliosis 'idiopathic scoliosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700007 'idiopathic scoliosis' EquivalentTo 'scoliosis' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0700005) http://www.orpha.net/ORDO/Orphanet_2380 Legg-Calvé-Perthes disease 'Legg-Calvé-Perthes disease' SubClassOf 'Osteonecrosis of genetic origin' 'Legg-Calvé-Perthes disease' SubClassOf 'Osteochondrosis of genetic origin' http://purl.obolibrary.org/obo/UBERON_0003922 pancreatic epithelial bud 'pancreatic epithelial bud' SubClassOf 'part_of' some 'embryo' http://purl.obolibrary.org/obo/UBERON_0003921 pancreas primordium 'pancreas primordium' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0003932 cartilage element of chondrocranium 'cartilage element of chondrocranium' SubClassOf 'part_of' some 'anatomical system' 'cartilage element of chondrocranium' SubClassOf 'skeleton structure' 'cartilage element of chondrocranium' SubClassOf 'part_of' some 'skeletal system' http://www.orpha.net/ORDO/Orphanet_377 Gorlin syndrome 'Gorlin syndrome' SubClassOf 'Genetic skin tumor' 'Gorlin syndrome' SubClassOf 'Malignant tumor of palpebral epidermis' 'Gorlin syndrome' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_374 Goldenhar syndrome 'Goldenhar syndrome' SubClassOf 'bone neoplasm' http://www.orpha.net/ORDO/Orphanet_373 Simpson-Golabi-Behmel syndrome 'Simpson-Golabi-Behmel syndrome' SubClassOf 'syndromic diaphragmatic or thoracic malformation' 'Simpson-Golabi-Behmel syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Simpson-Golabi-Behmel syndrome' SubClassOf 'congenital nervous system disorder' '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 diaphragmatic or abdominal wall malformation' 'Simpson-Golabi-Behmel syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Simpson-Golabi-Behmel syndrome' SubClassOf 'Macroglossia' '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 'syndromic disease' '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' http://purl.obolibrary.org/obo/HP_0001336 Myoclonus 'Myoclonus' SubClassOf 'Abnormal central motor function' http://purl.obolibrary.org/obo/HP_0001337 Tremor 'Tremor' SubClassOf 'Abnormal central motor function' http://www.orpha.net/ORDO/Orphanet_183527 Genetic bone tumor 'Genetic bone tumor' SubClassOf 'bone neoplasm' 'Genetic bone tumor' SubClassOf 'bone disease' http://www.orpha.net/ORDO/Orphanet_404 Familial hyperaldosteronism type II 'Familial hyperaldosteronism type II' SubClassOf 'Genetic endocrine tumor' http://www.orpha.net/ORDO/Orphanet_422 Idiopathic and/or familial pulmonary arterial hypertension 'Idiopathic and/or familial pulmonary arterial hypertension' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700007 http://purl.obolibrary.org/obo/HP_0025267 Snoring 'Snoring' SubClassOf 'Abnormality of the respiratory system' 'Snoring' SubClassOf 'Abnormal pattern of respiration' http://www.orpha.net/ORDO/Orphanet_416 Primary hyperoxaluria 'Primary hyperoxaluria' SubClassOf 'Disorder of glyoxylate metabolism' 'Primary hyperoxaluria' SubClassOf 'genetic disorder' 'Primary hyperoxaluria' SubClassOf 'Disorder of glyoxylate metabolism' http://purl.obolibrary.org/obo/UBERON_2005103 presumptive ventral fin fold 'presumptive ventral fin fold' SubClassOf 'embryonic structure' http://www.orpha.net/ORDO/Orphanet_93598 Primary hyperoxaluria type 1 'Primary hyperoxaluria type 1' SubClassOf 'Disorder of peroxisomal alpha-, beta- and omega-oxidation' 'Primary hyperoxaluria type 1' SubClassOf 'Disorder of peroxisomal alpha-, beta- and omega-oxidation' 'Primary hyperoxaluria type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100278 http://purl.obolibrary.org/obo/MONDO_0032938 basal ganglia calcification, idiopathic, 8, autosomal recessive 'basal ganglia calcification, idiopathic, 8, autosomal recessive' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700007 http://purl.obolibrary.org/obo/UBERON_6001059 insect visual primordium 'insect visual primordium' SubClassOf 'part_of' some 'embryo' http://www.orpha.net/ORDO/Orphanet_246 Postaxial acrofacial dysostosis 'Postaxial acrofacial dysostosis' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Postaxial acrofacial dysostosis' SubClassOf 'Syndrome or malformation associated with head and neck malformations' http://www.orpha.net/ORDO/Orphanet_272 Congenital muscular dystrophy, Fukuyama type 'Congenital muscular dystrophy, Fukuyama type' SubClassOf 'Muscle-eye-brain disease' 'Congenital muscular dystrophy, Fukuyama type' SubClassOf 'Muscle-eye-brain disease' 'Congenital muscular dystrophy, Fukuyama type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700067 http://www.orpha.net/ORDO/Orphanet_296 Enchondromatosis 'Enchondromatosis' SubClassOf 'bone neoplasm' http://purl.obolibrary.org/obo/UBERON_0001902 epithelium of small intestine 'epithelium of small intestine' SubClassOf 'part_of' some 'small intestine' http://purl.obolibrary.org/obo/UBERON_0001905 pineal body 'pineal body' SubClassOf 'part_of' some 'endocrine system' http://purl.obolibrary.org/obo/UBERON_0001906 subthalamic nucleus 'subthalamic nucleus' SubClassOf 'part_of' some 'brain' http://purl.obolibrary.org/obo/UBERON_0001926 lateral geniculate body 'lateral geniculate body' SubClassOf 'part_of' some 'brain' http://purl.obolibrary.org/obo/UBERON_0001927 medial geniculate body 'medial geniculate body' SubClassOf 'part_of' some 'brain' 'medial geniculate body' SubClassOf 'part_of' some 'forebrain' http://purl.obolibrary.org/obo/UBERON_0001928 preoptic area 'preoptic area' SubClassOf 'part_of' some 'nervous system' http://purl.obolibrary.org/obo/UBERON_0001929 supraoptic nucleus 'supraoptic nucleus' SubClassOf 'part_of' some 'central nervous system' 'supraoptic nucleus' SubClassOf 'part_of' some 'brain' 'supraoptic nucleus' SubClassOf 'part_of' some 'diencephalon' http://purl.obolibrary.org/obo/UBERON_0001930 paraventricular nucleus of hypothalamus 'paraventricular nucleus of hypothalamus' SubClassOf 'part_of' some 'diencephalon' 'paraventricular nucleus of hypothalamus' SubClassOf 'part_of' some 'brain' 'paraventricular nucleus of hypothalamus' SubClassOf 'part_of' some 'central nervous system' http://www.ebi.ac.uk/efo/EFO_0005950 head and neck neoplasia '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 'has_disease_location' some ('neck' or ('part_of' some 'neck')) 'head and neck neoplasia' SubClassOf 'has_disease_location' some ('head' or ('part_of' some 'head')) http://purl.obolibrary.org/obo/UBERON_2005010 mid cerebral vein 'mid cerebral vein' SubClassOf 'blood vessel' 'mid cerebral vein' SubClassOf 'vein' 'mid cerebral vein' SubClassOf 'part_of' some 'head' 'mid cerebral vein' SubClassOf 'part_of' some 'vasculature of head' http://purl.obolibrary.org/obo/UBERON_2005017 primordial midbrain channel 'primordial midbrain channel' SubClassOf 'blood vessel' 'primordial midbrain channel' SubClassOf 'part_of' some 'head' 'primordial midbrain channel' SubClassOf 'vein' 'primordial midbrain channel' SubClassOf 'part_of' some 'vasculature of head' http://purl.obolibrary.org/obo/UBERON_0001985 corneal endothelium 'corneal endothelium' SubClassOf 'part_of' some 'eye' http://purl.obolibrary.org/obo/UBERON_0001997 olfactory epithelium 'olfactory epithelium' SubClassOf 'part_of' some 'respiratory tract' http://purl.obolibrary.org/obo/UBERON_2005039 anterior lateral mesoderm 'anterior lateral mesoderm' SubClassOf 'part_of' some 'embryo' http://purl.obolibrary.org/obo/UBERON_0001945 superior colliculus 'superior colliculus' SubClassOf 'part_of' some 'midbrain tectum' http://purl.obolibrary.org/obo/UBERON_2005093 nasal vein 'nasal vein' SubClassOf 'blood vessel' 'nasal vein' SubClassOf 'part_of' some 'head' 'nasal vein' SubClassOf 'vein' 'nasal vein' SubClassOf 'part_of' some 'vasculature of head' http://purl.obolibrary.org/obo/UBERON_0001946 inferior colliculus 'inferior colliculus' SubClassOf 'part_of' some 'nervous system' 'inferior colliculus' SubClassOf 'part_of' some 'midbrain tectum' http://purl.obolibrary.org/obo/UBERON_0001954 Ammon's horn 'Ammon's horn' SubClassOf 'part_of' some 'nervous system' http://www.orpha.net/ORDO/Orphanet_29072 Hereditary pheochromocytoma-paraganglioma 'Hereditary pheochromocytoma-paraganglioma' SubClassOf 'Genetic hypertension' 'Hereditary pheochromocytoma-paraganglioma' SubClassOf 'kidney neoplasm' 'Hereditary pheochromocytoma-paraganglioma' SubClassOf 'Genetic endocrine tumor' 'Hereditary pheochromocytoma-paraganglioma' SubClassOf 'Rare genetic adrenal disease' http://purl.obolibrary.org/obo/UBERON_0001950 neocortex 'neocortex' SubClassOf 'part_of' some 'nervous system' http://purl.obolibrary.org/obo/UBERON_0001969 blood plasma 'blood plasma' SubClassOf 'bodily fluid' http://purl.obolibrary.org/obo/UBERON_0001976 epithelium of esophagus 'epithelium of esophagus' SubClassOf 'part_of' some 'esophagus' http://purl.obolibrary.org/obo/UBERON_0001970 bile 'bile' SubClassOf 'anatomical entity' 'bile' SubClassOf 'bodily fluid' http://purl.obolibrary.org/obo/MONDO_0056804 benign neoplasm of peripheral nervous system 'benign neoplasm of peripheral nervous system' SubClassOf 'peripheral nervous system neoplasm' 'benign neoplasm of peripheral nervous system' SubClassOf 'tumour of cranial and spinal nerves' http://www.orpha.net/ORDO/Orphanet_588 Muscle-eye-brain disease 'Muscle-eye-brain disease' SubClassOf 'Qualitative or quantitative defects of FKRP' 'Muscle-eye-brain disease' SubClassOf 'Qualitative or quantitative defects of FKRP' http://www.orpha.net/ORDO/Orphanet_587 Muir-Torre syndrome 'Muir-Torre syndrome' SubClassOf 'Palpebral sebaceous gland tumor' 'Muir-Torre syndrome' SubClassOf 'skin carcinoma' 'Muir-Torre syndrome' SubClassOf 'Genetic skin tumor' 'Muir-Torre syndrome' SubClassOf 'Lynch syndrome' 'Muir-Torre syndrome' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/UBERON_0011189 lamina propria of large intestine 'lamina propria of large intestine' SubClassOf 'part_of' some 'alimentary part of gastrointestinal system' 'lamina propria of large intestine' SubClassOf 'part_of' some 'large intestine' 'lamina propria of large intestine' SubClassOf 'part_of' some 'mucosa' http://www.orpha.net/ORDO/Orphanet_624 Familial multiple nevi flammei 'Familial multiple nevi flammei' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_618 Familial melanoma 'Familial melanoma' SubClassOf 'Genetic skin tumor' 'Familial melanoma' SubClassOf 'Palpebral malignant melanoma' 'Familial melanoma' SubClassOf 'inherited neuroendocrine tumor' 'Familial melanoma' SubClassOf 'Genetic endocrine tumor' http://www.orpha.net/ORDO/Orphanet_626 Large congenital melanocytic nevus 'Large congenital melanocytic nevus' SubClassOf 'melanocytic nevus' 'Large congenital melanocytic nevus' SubClassOf 'Genetic skin tumor' 'Large congenital melanocytic nevus' SubClassOf 'melanocytic nevus' 'Large congenital melanocytic nevus' SubClassOf 'Genetic skin tumor' http://purl.obolibrary.org/obo/MONDO_0044889 high grade B-cell lymphoma 'high grade B-cell lymphoma' SubClassOf 'high grade malignant neoplasm' http://purl.obolibrary.org/obo/UBERON_0001817 lacrimal gland 'lacrimal gland' SubClassOf 'part_of' some 'eye' http://www.orpha.net/ORDO/Orphanet_647 Nijmegen breakage syndrome 'Nijmegen breakage syndrome' SubClassOf 'DNA repair defect other than combined T-cell and B-cell immunodeficiencies' 'Nijmegen breakage syndrome' SubClassOf 'DNA repair deficiency' 'Nijmegen breakage syndrome' SubClassOf 'DNA repair defect other than combined T-cell and B-cell immunodeficiencies' http://www.orpha.net/ORDO/Orphanet_183734 Genetic gynecological tumor 'Genetic gynecological tumor' SubClassOf 'urogenital neoplasm' http://www.orpha.net/ORDO/Orphanet_669 Otopalatodigital syndrome 'Otopalatodigital syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Otopalatodigital syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' http://purl.obolibrary.org/obo/UBERON_0001869 cerebral hemisphere 'cerebral hemisphere' SubClassOf 'part_of' some 'brain' http://www.ebi.ac.uk/efo/EFO_0001067 parasitic infection 'parasitic infection' DisjointWith 'urinary tract infection' http://purl.obolibrary.org/obo/MONDO_0005247 DisjointWith 'parasitic infection' http://purl.obolibrary.org/obo/UBERON_0001875 globus pallidus 'globus pallidus' SubClassOf 'part_of' some 'brain' 'globus pallidus' SubClassOf 'part_of' some 'basal ganglion' http://purl.obolibrary.org/obo/UBERON_0001876 amygdala 'amygdala' SubClassOf 'part_of' some 'brain' 'amygdala' SubClassOf 'part_of' some 'telencephalon' 'amygdala' SubClassOf 'part_of' some 'central nervous system' 'amygdala' SubClassOf 'part_of' some 'forebrain' http://purl.obolibrary.org/obo/UBERON_0001873 caudate nucleus 'caudate nucleus' SubClassOf 'part_of' some 'brain' 'caudate nucleus' SubClassOf 'part_of' some 'corpus striatum' http://purl.obolibrary.org/obo/UBERON_0001874 putamen 'putamen' SubClassOf 'part_of' some 'brain' http://purl.obolibrary.org/obo/UBERON_0001870 frontal cortex 'frontal cortex' SubClassOf 'part_of' some 'central nervous system' 'frontal cortex' SubClassOf 'part_of' some 'brain' 'frontal cortex' SubClassOf 'part_of' some 'telencephalon' 'frontal cortex' SubClassOf 'part_of' some 'forebrain' http://purl.obolibrary.org/obo/UBERON_0001886 choroid plexus 'choroid plexus' SubClassOf 'part_of' some 'central nervous system' 'choroid plexus' SubClassOf 'part_of' some 'circulatory system' 'choroid plexus' SubClassOf 'part_of' some 'brain' 'choroid plexus' SubClassOf 'anatomical structure' http://purl.obolibrary.org/obo/UBERON_0001882 nucleus accumbens 'nucleus accumbens' SubClassOf 'part_of' some 'brain' http://purl.obolibrary.org/obo/UBERON_0001885 dentate gyrus of hippocampal formation 'dentate gyrus of hippocampal formation' SubClassOf 'part_of' some 'nervous system' http://purl.obolibrary.org/obo/UBERON_0001880 bed nucleus of stria terminalis 'bed nucleus of stria terminalis' SubClassOf 'part_of' some 'brain' http://purl.obolibrary.org/obo/UBERON_0001897 dorsal plus ventral thalamus 'dorsal plus ventral thalamus' SubClassOf 'part_of' some 'nervous system' http://purl.obolibrary.org/obo/UBERON_0001898 hypothalamus 'hypothalamus' SubClassOf 'part_of' some 'nervous system' http://purl.obolibrary.org/obo/UBERON_0001899 epithalamus 'epithalamus' SubClassOf 'part_of' some 'nervous system' http://purl.obolibrary.org/obo/UBERON_0001893 telencephalon 'telencephalon' SubClassOf 'part_of' some 'nervous system' http://purl.obolibrary.org/obo/UBERON_0001894 diencephalon 'diencephalon' SubClassOf 'part_of' some 'nervous system' http://purl.obolibrary.org/obo/UBERON_0001896 medulla oblongata 'medulla oblongata' SubClassOf 'part_of' some 'hindbrain' http://purl.obolibrary.org/obo/UBERON_0001890 forebrain 'forebrain' SubClassOf 'part_of' some 'nervous system' http://purl.obolibrary.org/obo/UBERON_0001891 midbrain 'midbrain' SubClassOf 'part_of' some 'nervous system' http://www.orpha.net/ORDO/Orphanet_93921 Neurofibromatosis type 3 'Neurofibromatosis type 3' SubClassOf 'skin carcinoma' http://purl.obolibrary.org/obo/UBERON_0001820 sweat gland 'sweat gland' SubClassOf 'part_of' some 'skin of body' http://purl.obolibrary.org/obo/UBERON_0001828 gingiva 'gingiva' SubClassOf 'part_of' some 'mouth mucosa' http://www.ebi.ac.uk/efo/EFO_0001099 Caco-2 'Caco-2' SubClassOf 'colonic cancer cell line' http://purl.obolibrary.org/obo/UBERON_0001673 central retinal vein 'central retinal vein' SubClassOf 'blood vessel' 'central retinal vein' SubClassOf 'part_of' some 'head' 'central retinal vein' SubClassOf 'vein' http://www.orpha.net/ORDO/Orphanet_464 Incontinentia pigmenti 'Incontinentia pigmenti' SubClassOf 'brain neoplasm' http://www.orpha.net/ORDO/Orphanet_493 Familial keratoacanthoma 'Familial keratoacanthoma' SubClassOf 'Palpebral tumor' 'Familial keratoacanthoma' SubClassOf 'head and neck neoplasia' http://purl.obolibrary.org/obo/MONDO_0044725 combined immunodeficiency due to GINS1 deficiency 'combined immunodeficiency due to GINS1 deficiency' SubClassOf 'DNA repair defect other than combined T-cell and B-cell immunodeficiencies' 'combined immunodeficiency due to GINS1 deficiency' SubClassOf 'syndrome with combined immunodeficiency' http://www.orpha.net/ORDO/Orphanet_503 Autosomal dominant Larsen syndrome 'Autosomal dominant Larsen syndrome' SubClassOf 'developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0044792 large congenital melanocytic nevus 'large congenital melanocytic nevus' SubClassOf 'melanocytic nevus' 'large congenital melanocytic nevus' SubClassOf 'Genetic skin tumor' http://purl.obolibrary.org/obo/MONDO_0029135 muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 'muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700075 http://www.orpha.net/ORDO/Orphanet_538 Lymphangioleiomyomatosis 'Lymphangioleiomyomatosis' SubClassOf 'respiratory system neoplasm' http://www.orpha.net/ORDO/Orphanet_183619 Genetic eye tumor 'Genetic eye tumor' SubClassOf 'head and neck neoplasia' http://www.orpha.net/ORDO/Orphanet_568 Microphthalmia, Lenz type 'Microphthalmia, Lenz type' SubClassOf 'NAA10-related syndrome' 'Microphthalmia, Lenz type' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/UBERON_0001772 corneal epithelium 'corneal epithelium' SubClassOf 'anatomical structure' 'corneal epithelium' SubClassOf 'part_of' some 'cornea' 'corneal epithelium' SubClassOf 'part_of' some 'eye' 'corneal epithelium' SubClassOf 'epithelium' http://purl.obolibrary.org/obo/UBERON_0001706 nasal septum 'nasal septum' SubClassOf 'anatomical structure' 'nasal septum' SubClassOf 'craniofacial tissue' 'nasal septum' SubClassOf 'part_of' some 'nose' http://purl.obolibrary.org/obo/UBERON_0001715 oculomotor nuclear complex 'oculomotor nuclear complex' SubClassOf 'part_of' some 'brain' http://purl.obolibrary.org/obo/UBERON_0001729 oropharynx 'oropharynx' SubClassOf 'part_of' some 'digestive system' http://www.orpha.net/ORDO/Orphanet_276161 Multiple endocrine neoplasia 'Multiple endocrine neoplasia' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_71862 Retinal dystrophy 'Retinal dystrophy' SubClassOf 'vision disorder' http://purl.obolibrary.org/obo/MONDO_0007608 desmoid tumor 'desmoid tumor' SubClassOf 'fibromatosis' 'desmoid tumor' SubClassOf 'Soft Tissue Neoplasm' 'desmoid tumor' SubClassOf 'has modifier' some 'rare' 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://www.ebi.ac.uk/efo/EFO_1001973 ureter urothelial carcinoma 'ureter urothelial carcinoma' SubClassOf 'urothelial carcinoma' http://purl.obolibrary.org/obo/MONDO_0020639 monosomy 'monosomy' SubClassOf 'Chromosomal anomaly' 'monosomy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700064 http://www.ebi.ac.uk/efo/EFO_1001979 Adrenocorticotropic hormone deficiency 'Adrenocorticotropic hormone deficiency' SubClassOf 'hypopituitarism' 'Adrenocorticotropic hormone deficiency' SubClassOf 'has modifier' some 'has an isolated presentation' 'Adrenocorticotropic hormone deficiency' SubClassOf 'Non-acquired pituitary hormone deficiency' http://www.ebi.ac.uk/efo/EFO_1001982 Antisynthetase syndrome 'Antisynthetase syndrome' SubClassOf 'myositis' http://www.ebi.ac.uk/efo/EFO_1001980 Alpha-methylacyl-CoA racemase deficiency 'Alpha-methylacyl-CoA racemase deficiency' SubClassOf 'Disorder of peroxisomal alpha-, beta- and omega-oxidation' 'Alpha-methylacyl-CoA racemase deficiency' SubClassOf 'Genetic peripheral neuropathy' 'Alpha-methylacyl-CoA racemase deficiency' SubClassOf 'Peroxisomal beta-oxidation disorder' http://www.ebi.ac.uk/efo/EFO_1001987 dropped head syndrome 'dropped head syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700007 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' 'microcephaly, growth restriction and increased sister chromatid exchange' SubClassOf 'syndrome with combined immunodeficiency' 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_0029001 chemically-induced disorder 'chemically-induced disorder' SubClassOf 'radiation or chemically induced disorder' 'chemically-induced disorder' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003880 appendiceal neoplasm 'appendiceal neoplasm' EquivalentTo 'neoplasm' and ('has_disease_location' some ('vermiform appendix' or ('part_of' some 'vermiform appendix'))) 'appendiceal neoplasm' SubClassOf 'has_disease_location' some ('vermiform appendix' or ('part_of' some 'vermiform appendix')) http://www.ebi.ac.uk/efo/EFO_0003873 parotid neoplasm 'parotid neoplasm' EquivalentTo 'neoplasm' and ('has_disease_location' some 'parotid gland') 'parotid neoplasm' SubClassOf 'salivary gland neoplasm' 'parotid neoplasm' SubClassOf 'has_disease_location' some 'parotid gland' 'parotid neoplasm' SubClassOf 'parotid disease' 'parotid neoplasm' SubClassOf 'neoplasm of major salivary gland' http://www.ebi.ac.uk/efo/EFO_0003874 flatfoot 'flatfoot' SubClassOf 'plantar wart' http://www.ebi.ac.uk/efo/EFO_0003871 tongue neoplasm 'tongue neoplasm' SubClassOf 'mouth neoplasm' 'tongue neoplasm' EquivalentTo 'neoplasm' and ('has_disease_location' some 'tongue') 'tongue neoplasm' SubClassOf 'has_disease_location' some 'tongue' 'tongue neoplasm' SubClassOf 'digestive system neoplasm' http://www.ebi.ac.uk/efo/EFO_0003878 urethritis 'urethritis' SubClassOf 'urinary tract infection' 'urethritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0005247 http://purl.obolibrary.org/obo/UBERON_0035814 pericardial fat 'pericardial fat' SubClassOf 'anatomical structure' 'pericardial fat' SubClassOf 'adipose tissue' http://www.orpha.net/ORDO/Orphanet_888 Van der Woude syndrome 'Van der Woude syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Van der Woude syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' http://purl.obolibrary.org/obo/MONDO_0030037 neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures 'neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures' SubClassOf 'genetic disorder' 'neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures' SubClassOf 'Disorder of lipid metabolism' 'neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures' SubClassOf 'Congenital disorder of glycosylation' 'neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures' SubClassOf 'disorder of GPI anchor biosynthesis' http://www.orpha.net/ORDO/Orphanet_893 WAGR syndrome 'WAGR syndrome' SubClassOf 'urogenital neoplasm' 'WAGR syndrome' SubClassOf 'endocrine neoplasm' '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 'eye neoplasm' 'WAGR syndrome' SubClassOf 'kidney neoplasm' http://www.orpha.net/ORDO/Orphanet_892 Von Hippel-Lindau disease 'Von Hippel-Lindau disease' SubClassOf 'Rare disease with glaucoma as a major feature' 'Von Hippel-Lindau disease' SubClassOf 'head and neck neoplasia' 'Von Hippel-Lindau disease' SubClassOf 'kidney neoplasm' http://www.ebi.ac.uk/efo/EFO_0001232 RKO 'RKO' SubClassOf 'colonic cancer cell line' http://www.ebi.ac.uk/efo/EFO_0003893 ovarian neoplasm 'ovarian neoplasm' SubClassOf 'endocrine neoplasm' 'ovarian neoplasm' EquivalentTo 'neoplasm' and ('has_disease_location' some ('ovary' or ('part_of' some 'ovary'))) 'ovarian neoplasm' SubClassOf 'has_disease_location' some ('ovary' or ('part_of' some 'ovary')) 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'))) 'stomach neoplasm' SubClassOf 'has_disease_location' some ('stomach' or ('part_of' some 'stomach')) http://www.ebi.ac.uk/efo/EFO_0001253 THP-1 'THP-1' SubClassOf 'cancer cell line' 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_1001928 small intestine neuroendocrine tumor 'small intestine neuroendocrine tumor' SubClassOf 'small intestine carcinoma' 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 'T-cell leukemia' 'adult T acute lymphoblastic leukemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003540 http://www.ebi.ac.uk/efo/EFO_1001948 childhood T lymphoblastic lymphoma 'childhood T lymphoblastic lymphoma' SubClassOf 'Cutaneous T-cell lymphoma' http://www.ebi.ac.uk/efo/EFO_1001946 childhood B acute lymphoblastic leukemia 'childhood B acute lymphoblastic leukemia' SubClassOf 'B-cell acute lymphoblastic leukemia' http://www.orpha.net/ORDO/Orphanet_805 Tuberous sclerosis 'Tuberous sclerosis' SubClassOf 'Phakomatosis with eye involvement' 'Tuberous sclerosis' SubClassOf 'Genetic mixed dermis disorder' 'Tuberous sclerosis' SubClassOf 'brain neoplasm' 'Tuberous sclerosis' SubClassOf 'Inherited renal cancer-predisposing syndrome' 'Tuberous sclerosis' SubClassOf 'skin neoplasm' 'Tuberous sclerosis' SubClassOf 'Familial cystic renal disease' 'Tuberous sclerosis' SubClassOf 'Eyebrow/eyelashes pigmentation anomaly' 'Tuberous sclerosis' SubClassOf 'head and neck neoplasia' 'Tuberous sclerosis' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Tuberous sclerosis' SubClassOf 'Syndromic lymphedema' 'Tuberous sclerosis' SubClassOf 'Malformation syndrome with hamartosis' 'Tuberous sclerosis' SubClassOf 'Neurocutaneous syndrome with epilepsy' 'Tuberous sclerosis' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Tuberous sclerosis' SubClassOf 'Milroy disease' 'Tuberous sclerosis' SubClassOf 'Rare disease with autism' 'Tuberous sclerosis' SubClassOf 'kidney neoplasm' http://www.orpha.net/ORDO/Orphanet_841 Sebocystomatosis 'Sebocystomatosis' SubClassOf 'sebaceous gland anomaly' http://www.ebi.ac.uk/efo/EFO_0003820 bone neoplasm 'bone neoplasm' EquivalentTo 'neoplasm' and ('has_disease_location' some ('bone element' or ('part_of' some 'bone element'))) 'bone neoplasm' SubClassOf 'has_disease_location' some ('bone element' or ('part_of' some 'bone element')) 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'))) 'salivary gland neoplasm' SubClassOf 'mouth neoplasm' 'salivary gland neoplasm' SubClassOf 'has_disease_location' some ('saliva-secreting gland' or ('part_of' some 'saliva-secreting gland')) http://www.ebi.ac.uk/efo/EFO_0003824 eye neoplasm 'eye neoplasm' EquivalentTo 'neoplasm' and ('has_disease_location' some 'eye') 'eye neoplasm' SubClassOf 'has_disease_location' some 'eye' http://www.ebi.ac.uk/efo/EFO_0003828 spinal cord neoplasm 'spinal cord neoplasm' EquivalentTo 'neoplasm' and ('has_disease_location' some ('spinal cord' or ('part_of' some 'spinal cord'))) 'spinal cord neoplasm' SubClassOf 'has_disease_location' some ('spinal cord' or ('part_of' some 'spinal cord')) http://www.ebi.ac.uk/efo/EFO_0003811 refractory anemia with excess blasts 'refractory anemia with excess blasts' SubClassOf 'hematopoietic and lymphoid cell neoplasm' http://www.ebi.ac.uk/efo/EFO_0003812 refractory anemia with ringed sideroblasts 'refractory anemia with ringed sideroblasts' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700007 http://www.ebi.ac.uk/efo/EFO_0003817 laryngeal neoplasm 'laryngeal neoplasm' SubClassOf 'respiratory tract neoplasm' 'laryngeal neoplasm' EquivalentTo 'neoplasm' and ('has_disease_location' some ('larynx' or ('part_of' some 'larynx'))) 'laryngeal neoplasm' SubClassOf 'respiratory system neoplasm' 'laryngeal neoplasm' SubClassOf 'has_disease_location' some ('larynx' or ('part_of' some 'larynx')) 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'))) 'thyroid neoplasm' SubClassOf 'has_disease_location' some ('thyroid gland' or ('part_of' some 'thyroid gland')) http://www.ebi.ac.uk/efo/EFO_0003844 ureteral neoplasm 'ureteral neoplasm' SubClassOf 'kidney neoplasm' 'ureteral neoplasm' EquivalentTo 'neoplasm' and ('has_disease_location' some ('ureter' or ('part_of' some 'ureter'))) 'ureteral neoplasm' SubClassOf 'has_disease_location' some ('ureter' or ('part_of' some 'ureter')) 'ureteral neoplasm' SubClassOf 'kidney disease' http://www.ebi.ac.uk/efo/EFO_0003846 urethral neoplasm 'urethral neoplasm' EquivalentTo 'neoplasm' and ('has_disease_location' some 'urethra') 'urethral neoplasm' SubClassOf 'has_disease_location' some 'urethra' http://purl.obolibrary.org/obo/MONDO_0007564 pilomatrixoma 'pilomatrixoma' SubClassOf 'hair follicle neoplasm' http://www.ebi.ac.uk/efo/EFO_0003833 brain neoplasm 'brain neoplasm' EquivalentTo 'neoplasm' and ('has_disease_location' some ('brain' or ('part_of' some 'brain'))) 'brain neoplasm' SubClassOf 'has_disease_location' some ('brain' or ('part_of' some 'brain')) http://www.ebi.ac.uk/efo/EFO_0003835 anal neoplasm 'anal neoplasm' EquivalentTo 'neoplasm' and ('has_disease_location' some 'anal region') 'anal neoplasm' SubClassOf 'has_disease_location' some 'anal region' http://www.ebi.ac.uk/efo/EFO_0003863 urogenital neoplasm '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' EquivalentTo 'neoplasm' and ('has_disease_location' some ('pancreas' or ('part_of' some 'pancreas'))) 'pancreatic neoplasm' SubClassOf 'endocrine neoplasm' 'pancreatic neoplasm' SubClassOf 'has_disease_location' some ('pancreas' or ('part_of' some 'pancreas')) http://www.ebi.ac.uk/efo/EFO_0003866 paranasal sinus neoplasm 'paranasal sinus neoplasm' SubClassOf 'respiratory system neoplasm' http://purl.obolibrary.org/obo/MONDO_0020550 gestational choriocarcinoma 'gestational choriocarcinoma' SubClassOf 'female reproductive organ cancer' 'gestational choriocarcinoma' SubClassOf 'Genital neoplasm, female' http://www.ebi.ac.uk/efo/EFO_0003865 kidney neoplasm 'kidney neoplasm' EquivalentTo 'neoplasm' and ('has_disease_location' some ('kidney' or ('part_of' some 'kidney'))) 'kidney neoplasm' SubClassOf 'has_disease_location' some ('kidney' or ('part_of' some 'kidney')) http://www.ebi.ac.uk/efo/EFO_0003868 mouth neoplasm 'mouth neoplasm' EquivalentTo 'neoplasm' and ('has_disease_location' some 'mouth') 'mouth neoplasm' SubClassOf 'has_disease_location' some 'mouth' http://www.ebi.ac.uk/efo/EFO_0003869 breast neoplasm 'breast neoplasm' EquivalentTo 'neoplasm' and ('has_disease_location' some ('mammary gland' or ('part_of' some 'mammary gland'))) 'breast neoplasm' SubClassOf 'has_disease_location' some ('mammary gland' or ('part_of' some 'mammary gland')) http://www.ebi.ac.uk/efo/EFO_0003851 meningeal neoplasm 'meningeal neoplasm' EquivalentTo 'neoplasm' and ('has_disease_location' some 'meningeal cluster') 'meningeal neoplasm' SubClassOf 'has_disease_location' some 'meningeal cluster' http://www.ebi.ac.uk/efo/EFO_0003850 adrenal gland neoplasm 'adrenal gland neoplasm' EquivalentTo 'neoplasm' and ('has_disease_location' some ('adrenal medulla chromaffin cell' or ('part_of' some 'adrenal medulla chromaffin cell'))) 'adrenal gland neoplasm' SubClassOf 'has_disease_location' some ('adrenal medulla chromaffin cell' or ('part_of' some 'adrenal medulla chromaffin cell')) http://www.ebi.ac.uk/efo/EFO_0003853 respiratory system neoplasm 'respiratory system neoplasm' SubClassOf 'respiratory system disease' 'respiratory system neoplasm' EquivalentTo 'neoplasm' and ('has_disease_location' some 'respiratory system') 'respiratory system neoplasm' SubClassOf 'respiratory system disease' 'respiratory system neoplasm' SubClassOf 'has_disease_location' some 'respiratory system' http://www.ebi.ac.uk/efo/EFO_0003859 uterine neoplasm 'uterine neoplasm' EquivalentTo 'neoplasm' and ('has_disease_location' some 'uterus') 'uterine neoplasm' SubClassOf 'has_disease_location' some 'uterus' http://www.orpha.net/ORDO/Orphanet_744 Proteus syndrome 'Proteus syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Proteus syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' http://www.ebi.ac.uk/efo/EFO_0003761 unipolar depression 'unipolar depression' SubClassOf 'depressive disorder' 'unipolar depression' SubClassOf 'mood disorder' http://www.ebi.ac.uk/efo/EFO_0001101 CC531 'CC531' SubClassOf 'colonic cancer cell line' 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'))) 'endocrine neoplasm' SubClassOf 'has_disease_location' some ('endocrine system' or ('part_of' some 'endocrine system')) 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 'Disorder of lipid metabolism' http://www.orpha.net/ORDO/Orphanet_758 Pseudoxanthoma elasticum 'Pseudoxanthoma elasticum' EquivalentTo 'pseudoxanthoma elasticum (inherited or acquired)' and ('has modifier' some 'inherited') http://www.orpha.net/ORDO/Orphanet_773 Refsum disease 'Refsum disease' SubClassOf 'Leukodystrophy' 'Refsum disease' SubClassOf 'cerebellar degeneration' 'Refsum disease' SubClassOf 'Disorder of peroxisomal alpha-, beta- and omega-oxidation' 'Refsum disease' SubClassOf 'Autosomal ichthyosis syndrome with prominent neurologics signs' 'Refsum disease' SubClassOf 'Autosomal recessive congenital ichthyosis' 'Refsum disease' SubClassOf 'eye degenerative disease' 'Refsum disease' SubClassOf 'Cataract associated with a metabolic disease' 'Infantile Refsum disease' DisjointWith 'Refsum disease' 'Refsum disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100258 'Refsum disease' SubClassOf 'Leukodystrophy' 'Refsum disease' SubClassOf 'Disorder of peroxisomal alpha-, beta- and omega-oxidation' 'Refsum disease' SubClassOf 'Autosomal ichthyosis syndrome with prominent neurologics signs' '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 'peroxisomal disease with epilepsy' 'Infantile Refsum disease' SubClassOf 'cerebellar degeneration' 'Infantile Refsum disease' SubClassOf 'congenital nervous system disorder' '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 'eye degenerative disease' 'Infantile Refsum disease' SubClassOf 'Developmental anomaly of metabolic origin' 'Infantile Refsum disease' DisjointWith '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' http://www.ebi.ac.uk/efo/EFO_0003774 hyperlipidemia 'hyperlipidemia' SubClassOf 'metabolic disease' http://www.ebi.ac.uk/efo/EFO_0003779 Hashimoto's thyroiditis 'Hashimoto's thyroiditis' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_786 Glucocorticoid resistance 'Glucocorticoid resistance' SubClassOf 'Disorder of lipid metabolism' http://www.orpha.net/ORDO/Orphanet_790 Retinoblastoma 'Retinoblastoma' SubClassOf 'neoplasm' and ('has_disease_location' some 'eye') 'Retinoblastoma' SubClassOf 'has_disease_location' some 'eye' http://www.ebi.ac.uk/efo/EFO_0001193 HT-29 'HT-29' SubClassOf 'colonic cancer cell line' 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 'Syndrome or malformation associated with head and neck malformations' 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' http://www.orpha.net/ORDO/Orphanet_2969 Proteus-like syndrome 'Proteus-like syndrome' SubClassOf 'PTEN hamartoma tumor syndrome' http://www.ebi.ac.uk/efo/EFO_1001767 brain stem neoplasm 'brain stem neoplasm' SubClassOf 'brain neoplasm' 'brain stem neoplasm' SubClassOf 'brain neoplasm' http://purl.obolibrary.org/obo/MONDO_0019460 acute leukemia of ambiguous lineage 'acute leukemia of ambiguous lineage' SubClassOf 'acute disease' 'acute leukemia of ambiguous lineage' SubClassOf 'myeloproliferative disorder' http://purl.obolibrary.org/obo/MONDO_0019467 CD4+/CD56+ hematodermic neoplasm 'CD4+/CD56+ hematodermic neoplasm' SubClassOf 'T-cell non-Hodgkin lymphoma' 'CD4+/CD56+ hematodermic neoplasm' SubClassOf 'genetic skin disease' 'CD4+/CD56+ hematodermic neoplasm' SubClassOf 'skin cancer' 'CD4+/CD56+ hematodermic neoplasm' SubClassOf 'myeloid neoplasm' http://www.orpha.net/ORDO/Orphanet_168572 Native American myopathy 'Native American myopathy' SubClassOf 'congenital nervous system disorder' 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 'Disorder of lipid metabolism' http://purl.obolibrary.org/obo/UBERON_0011634 ectopterygoid bone 'ectopterygoid bone' SubClassOf 'part_of' some 'digestive system' http://www.orpha.net/ORDO/Orphanet_276280 Hemihyperplasia-multiple lipomatosis syndrome 'Hemihyperplasia-multiple lipomatosis syndrome' SubClassOf 'bone neoplasm' 'Hemihyperplasia-multiple lipomatosis syndrome' SubClassOf 'Genetic skin tumor' 'Hemihyperplasia-multiple lipomatosis syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Hemihyperplasia-multiple lipomatosis syndrome' SubClassOf 'Genetic vascular anomaly' 'Hemihyperplasia-multiple lipomatosis syndrome' SubClassOf 'head and neck neoplasia' http://www.ebi.ac.uk/efo/EFO_1001831 pseudolymphoma 'pseudolymphoma' SubClassOf 'lymphoma' 'pseudolymphoma' SubClassOf 'lymphatic system disease' http://purl.obolibrary.org/obo/MONDO_0009930 pulmonary arteriovenous malformation (disease) 'pulmonary arteriovenous malformation (disease)' SubClassOf 'respiratory system neoplasm' http://www.ebi.ac.uk/efo/EFO_1001844 skin mastocytoma 'skin mastocytoma' SubClassOf 'cutaneous mastocytosis' 'skin mastocytoma' SubClassOf 'Mast Cell Neoplasm' http://www.ebi.ac.uk/efo/EFO_1001853 submandibular gland neoplasm '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_0001422 cirrhosis of liver 'cirrhosis of liver' SubClassOf 'liver neoplasm' http://www.orpha.net/ORDO/Orphanet_181428 Hyperalphalipoproteinemia 'Hyperalphalipoproteinemia' SubClassOf 'hyperlipidemia (disease)' 'Hyperalphalipoproteinemia' SubClassOf 'hyperlipidemia' http://www.orpha.net/ORDO/Orphanet_181425 Major hypertriglyceridemia 'Major hypertriglyceridemia' SubClassOf 'hyperlipidemia (disease)' 'Major hypertriglyceridemia' SubClassOf 'hyperlipidemia' http://www.ebi.ac.uk/efo/EFO_0001379 endocrine system disease 'endocrine system disease' SubClassOf 'disease' 'endocrine system disease' SubClassOf 'disease by anatomical system' http://www.ebi.ac.uk/efo/EFO_1001818 oral submucous fibrosis 'oral submucous fibrosis' SubClassOf 'bone neoplasm' 'oral submucous fibrosis' SubClassOf 'oral cavity cancer' http://www.orpha.net/ORDO/Orphanet_912 Zellweger syndrome 'Zellweger syndrome' SubClassOf 'Systemic disease with cataract' 'Zellweger syndrome' SubClassOf 'Systemic disease with cataract' 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://www.orpha.net/ORDO/Orphanet_955 Acroosteolysis dominant type 'Acroosteolysis dominant type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003157 http://www.ebi.ac.uk/efo/EFO_0006583 HNT-34 'HNT-34' SubClassOf 'cancer cell line' http://purl.obolibrary.org/obo/MONDO_0013083 neuroblastoma, susceptibility to, 3 'neuroblastoma, susceptibility to, 3' SubClassOf 'Rare genetic neurological disorder' http://purl.obolibrary.org/obo/UBERON_0010996 articular cartilage of joint 'articular cartilage of joint' SubClassOf 'part_of' some 'musculoskeletal system' http://purl.obolibrary.org/obo/UBERON_0009955 neurogenic placode 'neurogenic placode' SubClassOf 'embryonic structure' http://www.ebi.ac.uk/efo/EFO_0006535 ATRFLOX 'ATRFLOX' SubClassOf 'colonic cancer cell line' http://www.ebi.ac.uk/efo/EFO_0006546 C2BBe1 'C2BBe1' SubClassOf 'colonic cancer cell line' http://www.ebi.ac.uk/efo/EFO_0006548 CaR-1 'CaR-1' SubClassOf 'colonic cancer cell line' http://www.ebi.ac.uk/efo/EFO_0006579 HEL 'HEL' SubClassOf 'cancer cell line' http://purl.obolibrary.org/obo/UBERON_0007383 enveloping layer of ectoderm 'enveloping layer of ectoderm' SubClassOf 'part_of' some 'multicellular organism' 'enveloping layer of ectoderm' SubClassOf 'part_of' some 'embryo' 'enveloping layer of ectoderm' SubClassOf 'part_of' some 'embryonic structure' http://purl.obolibrary.org/obo/MONDO_0027749 serpinopathy 'serpinopathy' SubClassOf 'disease' 'serpinopathy' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0006561 CX-1 'CX-1' SubClassOf 'colonic cancer cell line' http://www.ebi.ac.uk/efo/EFO_0006560 CW-2 'CW-2' SubClassOf 'colonic cancer cell line' http://www.ebi.ac.uk/efo/EFO_0006566 dysplastic oral keratinocyte 'dysplastic oral keratinocyte' SubClassOf 'head and neck neoplasia' 'dysplastic oral keratinocyte' SubClassOf 'epithelial neoplasm' http://www.ebi.ac.uk/efo/EFO_0006473 PL-21 'PL-21' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0006476 RCM-1 'RCM-1' SubClassOf 'colonic cancer cell line' http://purl.obolibrary.org/obo/UBERON_0019189 carotid artery endothelium 'carotid artery endothelium' SubClassOf 'part_of' some 'cardiovascular system' 'carotid artery endothelium' SubClassOf 'part_of' some 'blood vessel' http://purl.obolibrary.org/obo/UBERON_0007213 mesenchyme derived from head neural crest 'mesenchyme derived from head neural crest' SubClassOf 'part_of' some 'multicellular organism' http://purl.obolibrary.org/obo/UBERON_0009881 anterior lateral plate mesoderm 'anterior lateral plate mesoderm' SubClassOf 'part_of' some 'embryonic structure' 'anterior lateral plate mesoderm' SubClassOf 'part_of' some 'embryo' http://purl.obolibrary.org/obo/UBERON_0007292 presumptive rhombomere 5 'presumptive rhombomere 5' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0007291 presumptive rhombomere 4 'presumptive rhombomere 4' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0007290 presumptive rhombomere 3 'presumptive rhombomere 3' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0007288 presumptive forebrain midbrain boundary 'presumptive forebrain midbrain boundary' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0007286 presumptive floor plate 'presumptive floor plate' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0007285 presumptive paraxial mesoderm 'presumptive paraxial mesoderm' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0007284 presumptive neural plate 'presumptive neural plate' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0007283 presumptive shield 'presumptive shield' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0007282 presumptive segmental plate 'presumptive segmental plate' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0007297 presumptive pronephric mesoderm 'presumptive pronephric mesoderm' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0007295 presumptive rhombomere 8 'presumptive rhombomere 8' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0007294 presumptive rhombomere 7 'presumptive rhombomere 7' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0007293 presumptive rhombomere 6 'presumptive rhombomere 6' SubClassOf 'embryonic structure' http://www.ebi.ac.uk/efo/EFO_0006424 HCC1263 'HCC1263' SubClassOf 'colonic cancer cell line' http://purl.obolibrary.org/obo/UBERON_0007250 lingual tonsil 'lingual tonsil' SubClassOf 'part_of' some 'tongue' 'lingual tonsil' SubClassOf 'craniofacial tissue' http://purl.obolibrary.org/obo/UBERON_0007281 presumptive midbrain hindbrain boundary 'presumptive midbrain hindbrain boundary' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0007277 presumptive hindbrain 'presumptive hindbrain' SubClassOf 'embryonic structure' http://www.ebi.ac.uk/efo/EFO_0004198 skin neoplasm 'skin neoplasm' EquivalentTo 'neoplasm' and ('has_disease_location' some ('zone of skin' or ('part_of' some 'zone of skin'))) 'skin neoplasm' SubClassOf 'has_disease_location' some ('zone of skin' or ('part_of' some 'zone of skin')) http://purl.obolibrary.org/obo/UBERON_0007097 chordo neural hinge 'chordo neural hinge' SubClassOf 'part_of' some 'embryo' http://www.orpha.net/ORDO/Orphanet_137871 Laminopathy type Decaudain-Vigouroux 'Laminopathy type Decaudain-Vigouroux' SubClassOf 'hyperlipidemia (disease)' 'Laminopathy type Decaudain-Vigouroux' SubClassOf 'hyperlipidemia' http://www.ebi.ac.uk/efo/EFO_0006712 OCI-M1 'OCI-M1' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0006713 OCI-M2 'OCI-M2' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0006719 mesonephric adenocarcinoma 'mesonephric adenocarcinoma' SubClassOf 'ovarian neoplasm' 'mesonephric adenocarcinoma' SubClassOf 'ovarian disease' http://www.ebi.ac.uk/efo/EFO_0006717 OUMS-23 'OUMS-23' SubClassOf 'colonic cancer cell line' http://www.ebi.ac.uk/efo/EFO_0006707 OCI-AML5 'OCI-AML5' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0006706 OCI-AML2 'OCI-AML2' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0006752 SK-CO-1 'SK-CO-1' SubClassOf 'colonic cancer cell line' http://www.ebi.ac.uk/efo/EFO_0006751 SIG-M5 'SIG-M5' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0006753 SKM-1 'SKM-1' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0006740 pulmonary mucoepidermoid carcinoma 'pulmonary mucoepidermoid carcinoma' SubClassOf 'squamous cell carcinoma' http://www.ebi.ac.uk/efo/EFO_0006761 SNU-C1 'SNU-C1' SubClassOf 'colonic cancer cell line' http://purl.obolibrary.org/obo/UBERON_0007135 neural keel 'neural keel' SubClassOf 'embryonic structure' http://www.ebi.ac.uk/efo/EFO_0004144 acatalasia 'acatalasia' SubClassOf 'Disorder of peroxisomal alpha-, beta- and omega-oxidation' 'acatalasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100306 http://purl.obolibrary.org/obo/MONDO_0015323 teratogenic Pierre Robin syndrome 'teratogenic Pierre Robin syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'teratogenic Pierre Robin syndrome' SubClassOf 'disorder of development or morphogenesis' 'teratogenic Pierre Robin syndrome' SubClassOf 'otorhinolaryngologic disease' http://purl.obolibrary.org/obo/MONDO_0017986 disorder of plasmalogens biosynthesis 'disorder of plasmalogens biosynthesis' SubClassOf 'Peroxisomal disease' 'disorder of plasmalogens biosynthesis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100257 http://purl.obolibrary.org/obo/MONDO_0003350 granular cell leiomyosarcoma 'granular cell leiomyosarcoma' SubClassOf 'granular cell carcinoma' 'granular cell leiomyosarcoma' SubClassOf 'Granular Cell Tumor' http://www.ebi.ac.uk/efo/EFO_0006607 Kasumi-1 'Kasumi-1' SubClassOf 'cancer cell line' http://purl.obolibrary.org/obo/UBERON_0009616 presumptive midbrain 'presumptive midbrain' SubClassOf 'embryonic structure' http://www.ebi.ac.uk/efo/EFO_0006639 LoVo 'LoVo' SubClassOf 'colonic cancer cell line' http://www.ebi.ac.uk/efo/EFO_0006652 MOLM-16 'MOLM-16' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0006640 LS 180 'LS 180' SubClassOf 'colonic cancer cell line' http://www.ebi.ac.uk/efo/EFO_0006645 ME-1 'ME-1' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0006644 MDST8 'MDST8' SubClassOf 'colonic cancer cell line' http://purl.obolibrary.org/obo/UBERON_0009676 early telencephalic vesicle 'early telencephalic vesicle' SubClassOf 'part_of' some 'embryo' http://purl.obolibrary.org/obo/MONDO_0003424 oncocytic adenoma 'oncocytic adenoma' SubClassOf 'oncocytic neoplasm' 'oncocytic adenoma' SubClassOf 'adenoma' 'oncocytic adenoma' EquivalentTo 'oncocytic neoplasm' and 'adenoma' http://purl.obolibrary.org/obo/MONDO_0003252 granular cell cancer 'granular cell cancer' SubClassOf 'adenocarcinoma' 'granular cell cancer' SubClassOf 'nerve sheath neoplasm' http://purl.obolibrary.org/obo/MONDO_0054865 encephalopathy due to mitochondrial and peroxisomal fission defect 'encephalopathy due to mitochondrial and peroxisomal fission defect' SubClassOf 'Genetic peripheral neuropathy' 'encephalopathy due to mitochondrial and peroxisomal fission defect' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100276 http://purl.obolibrary.org/obo/UBERON_0005170 granulosa cell layer 'granulosa cell layer' SubClassOf 'part_of' some 'reproductive system' http://purl.obolibrary.org/obo/UBERON_0007795 ascitic fluid 'ascitic fluid' SubClassOf 'part_of' some 'multicellular organism' http://www.ebi.ac.uk/efo/EFO_0004288 colonic neoplasm 'colonic neoplasm' EquivalentTo 'neoplasm' and ('has_disease_location' some ('colon' or ('part_of' some 'colon'))) 'colonic neoplasm' SubClassOf 'has_disease_location' some ('colon' or ('part_of' some 'colon')) http://www.orpha.net/ORDO/Orphanet_91397 Isolated ankyloblepharon filiforme adnatum 'Isolated ankyloblepharon filiforme adnatum' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Isolated ankyloblepharon filiforme adnatum' SubClassOf 'Syndrome or malformation associated with head and neck malformations' http://purl.obolibrary.org/obo/MONDO_0005784 hantavirus hemorrhagic fever with renal syndrome 'hantavirus hemorrhagic fever with renal syndrome' SubClassOf 'urinary tract infection (disease)' 'hantavirus hemorrhagic fever with renal syndrome' SubClassOf 'urinary tract infection' http://purl.obolibrary.org/obo/MONDO_0015119 bronchopulmonary tumor 'bronchopulmonary tumor' SubClassOf 'respiratory tract neoplasm' 'bronchopulmonary tumor' SubClassOf 'respiratory system neoplasm' http://purl.obolibrary.org/obo/UBERON_0007610 tibial artery 'tibial artery' SubClassOf 'part_of' some 'appendage' 'tibial artery' SubClassOf 'part_of' some 'limb' http://purl.obolibrary.org/obo/MONDO_0003197 granular cell carcinoma 'granular cell carcinoma' SubClassOf 'nerve sheath neoplasm' 'granular cell carcinoma' SubClassOf 'peripheral nervous system cancer' 'granular cell carcinoma' SubClassOf 'granular cell cancer' 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 'otorhinolaryngologic disease' 'Genetic syndromic Pierre Robin syndrome' SubClassOf 'disorder of development or morphogenesis' 'Genetic syndromic Pierre Robin syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' http://www.ebi.ac.uk/efo/EFO_0006858 epithelial neoplasm 'epithelial neoplasm' EquivalentTo 'neoplasm' and ('has_disease_location' some 'epithelial cell') 'epithelial neoplasm' SubClassOf 'has_disease_location' some 'epithelial cell' http://www.ebi.ac.uk/efo/EFO_0004230 endometrial neoplasm 'endometrial neoplasm' EquivalentTo 'neoplasm' and ('has_disease_location' some 'endometrium') 'endometrial neoplasm' SubClassOf 'has_disease_location' some 'endometrium' http://www.ebi.ac.uk/efo/EFO_0004251 myeloproliferative disorder 'myeloproliferative disorder' SubClassOf 'neoplasm' 'myeloproliferative disorder' SubClassOf 'Genetic tumor of hematopoietic and lymphoid tissues' 'myeloproliferative disorder' SubClassOf 'myeloid neoplasm' 'myeloproliferative disorder' SubClassOf 'cancer' http://www.ebi.ac.uk/efo/EFO_0004252 nasopharyngeal neoplasm 'nasopharyngeal neoplasm' SubClassOf 'respiratory tract neoplasm' 'nasopharyngeal neoplasm' SubClassOf 'respiratory system neoplasm' http://purl.obolibrary.org/obo/UBERON_0005068 neural rod 'neural rod' SubClassOf 'embryonic structure' http://www.ebi.ac.uk/efo/EFO_0004246 mucocutaneous lymph node syndrome 'mucocutaneous lymph node syndrome' SubClassOf 'Rare genetic systemic or rheumatologic disease' http://www.ebi.ac.uk/efo/EFO_0004278 sudden cardiac arrest 'sudden cardiac arrest' SubClassOf 'cardiac rhythm disease' 'sudden cardiac arrest' SubClassOf 'Genetic cardiac rhythm disease' http://purl.obolibrary.org/obo/MONDO_0017814 primary bone lymphoma 'primary bone lymphoma' SubClassOf 'bone cancer' 'primary bone lymphoma' SubClassOf 'Malignant Bone Neoplasm' http://purl.obolibrary.org/obo/UBERON_0005097 renal connecting tubule 'renal connecting tubule' SubClassOf 'part_of' some 'nephron tubule' http://purl.obolibrary.org/obo/BTO_0001033 prostate cancer cell line 'prostate cancer cell line' SubClassOf 'cultured cell' and ('bearer_of' some 'prostate carcinoma') 'prostate cancer cell line' EquivalentTo 'cultured cell' and ('bearer_of' some 'prostate cancer') http://www.orpha.net/ORDO/Orphanet_280406 Familial steroid-resistant nephrotic syndrome with sensorineural deafness 'Familial steroid-resistant nephrotic syndrome with sensorineural deafness' SubClassOf 'generalised epilepsy' http://purl.obolibrary.org/obo/MONDO_0003098 mediastinal neural neoplasm 'mediastinal neural neoplasm' SubClassOf 'peripheral nervous system neoplasm' 'mediastinal neural neoplasm' SubClassOf 'tumour of cranial and spinal nerves' http://www.orpha.net/ORDO/Orphanet_42775 PHACE syndrome 'PHACE syndrome' SubClassOf 'brain neoplasm' 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 'Syndrome or malformation associated with head and neck malformations' http://purl.obolibrary.org/obo/MONDO_0030502 tetrasomy 'tetrasomy' SubClassOf 'Chromosomal anomaly' 'tetrasomy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700064 http://purl.obolibrary.org/obo/MONDO_0054559 congenital disorder of glycosylation, type IIq 'congenital disorder of glycosylation, type IIq' SubClassOf 'Defect in conserved oligomeric Golgi complex' 'congenital disorder of glycosylation, type IIq' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' http://www.orpha.net/ORDO/Orphanet_66634 Dilated cardiomyopathy with ataxia 'Dilated cardiomyopathy with ataxia' SubClassOf 'Syndrome associated with dilated cardiomyopathy' 'Dilated cardiomyopathy with ataxia' SubClassOf 'Syndrome associated with dilated cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_139399 Adrenomyeloneuropathy 'Adrenomyeloneuropathy' SubClassOf 'X-linked cerebral adrenoleukodystrophy' 'Adrenomyeloneuropathy' SubClassOf 'X-linked adrenoleukodystrophy' http://purl.obolibrary.org/obo/UBERON_0005562 thymus primordium 'thymus primordium' SubClassOf 'epithelium' 'thymus primordium' SubClassOf 'part_of' some 'respiratory system' http://purl.obolibrary.org/obo/UBERON_0005563 trigeminal neural crest 'trigeminal neural crest' SubClassOf 'part_of' some 'mesenchyme derived from head neural crest' http://purl.obolibrary.org/obo/MONDO_0011173 thrombocythemia 2 'thrombocythemia 2' SubClassOf 'thrombocytosis disease' http://purl.obolibrary.org/obo/UBERON_0005440 ductus arteriosus 'ductus arteriosus' SubClassOf 'part_of' some 'trunk' 'ductus arteriosus' SubClassOf 'heart component' 'ductus arteriosus' SubClassOf 'part_of' some 'heart' 'ductus arteriosus' SubClassOf 'part_of' some 'thoracic segment of trunk' http://purl.obolibrary.org/obo/UBERON_0005403 ventral striatum 'ventral striatum' SubClassOf 'part_of' some 'forebrain' 'ventral striatum' SubClassOf 'part_of' some 'central nervous system' 'ventral striatum' SubClassOf 'part_of' some 'brain' http://purl.obolibrary.org/obo/MONDO_0013860 idiopathic membranous glomerulonephritis 'idiopathic membranous glomerulonephritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700007 http://www.ebi.ac.uk/efo/EFO_0008546 poisoning 'poisoning' SubClassOf 'chemically-induced disorder' 'poisoning' SubClassOf 'disease' http://www.orpha.net/ORDO/Orphanet_35125 Epidermal nevus syndrome 'Epidermal nevus syndrome' SubClassOf 'head and neck neoplasia' http://purl.obolibrary.org/obo/MONDO_0001724 supraglottis cancer 'supraglottis cancer' SubClassOf 'larynx cancer' 'supraglottis cancer' SubClassOf 'Malignant Laryngeal Neoplasm' http://purl.obolibrary.org/obo/MONDO_0013730 graft versus host disease 'graft versus host disease' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/UBERON_0005366 olfactory lobe 'olfactory lobe' SubClassOf 'part_of' some 'telencephalon' http://purl.obolibrary.org/obo/MONDO_0011118 bilineal acute myeloid leukemia 'bilineal acute myeloid leukemia' SubClassOf 'acute disease' 'bilineal acute myeloid leukemia' SubClassOf 'myeloproliferative disorder' http://www.orpha.net/ORDO/Orphanet_247353 Generalized pustular psoriasis 'Generalized pustular psoriasis' SubClassOf 'psoriasis 14, pustular' 'Generalized pustular psoriasis' SubClassOf 'epidermal disease' 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 'kidney neoplasm' http://www.orpha.net/ORDO/Orphanet_47044 Familial papillary renal cell carcinoma 'Familial papillary renal cell carcinoma' SubClassOf 'kidney neoplasm' http://purl.obolibrary.org/obo/UBERON_0007808 adipose tissue of abdominal region 'adipose tissue of abdominal region' SubClassOf 'part_of' some 'trunk' http://www.orpha.net/ORDO/Orphanet_96059 Mosaic trisomy 4 'Mosaic trisomy 4' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0700062 http://www.orpha.net/ORDO/Orphanet_96068 Mosaic trisomy 22 'Mosaic trisomy 22' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0700062 http://www.orpha.net/ORDO/Orphanet_96060 Mosaic trisomy 5 'Mosaic trisomy 5' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0700062 http://www.orpha.net/ORDO/Orphanet_96061 Mosaic trisomy 8 'Mosaic trisomy 8' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0700062 http://www.orpha.net/ORDO/Orphanet_96063 Mosaic trisomy 10 'Mosaic trisomy 10' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0700062 http://purl.obolibrary.org/obo/MONDO_0013626 psoriasis 14, pustular 'psoriasis 14, pustular' SubClassOf 'autoinflammatory syndrome with skin involvement' 'psoriasis 14, pustular' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'psoriasis 14, pustular' SubClassOf 'epidermal disease' 'psoriasis 14, pustular' SubClassOf 'pyogenic autoinflammatory syndrome' 'psoriasis 14, pustular' SubClassOf 'Autoinflammatory syndrome with immune deficiency' http://purl.obolibrary.org/obo/UBERON_0005253 head mesenchyme 'head mesenchyme' SubClassOf 'part_of' some 'embryo' 'head mesenchyme' SubClassOf 'part_of' some 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0005256 trunk mesenchyme 'trunk mesenchyme' SubClassOf 'part_of' some 'embryonic structure' 'trunk mesenchyme' SubClassOf 'part_of' some 'embryo' http://purl.obolibrary.org/obo/MONDO_0001672 bronchus cancer 'bronchus cancer' SubClassOf 'bronchial neoplasm (disease)' 'bronchus cancer' SubClassOf 'bronchial neoplasm' http://purl.obolibrary.org/obo/MONDO_0011014 pleuropulmonary blastoma 'pleuropulmonary blastoma' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/UBERON_0003307 floor plate of midbrain 'floor plate of midbrain' SubClassOf 'part_of' some 'nervous system' 'floor plate of midbrain' SubClassOf 'part_of' some 'floor plate' http://purl.obolibrary.org/obo/UBERON_2001200 corpuscles of Stannius 'corpuscles of Stannius' SubClassOf 'part_of' some 'anatomical system' 'corpuscles of Stannius' SubClassOf 'part_of' some 'trunk' http://purl.obolibrary.org/obo/UBERON_2001256 lateral floor plate 'lateral floor plate' SubClassOf 'part_of' some 'embryo' http://www.orpha.net/ORDO/Orphanet_98130 Autosomal trisomy 'Autosomal trisomy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700065 'Autosomal trisomy' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0700065 and 'Autosomal anomaly' http://purl.obolibrary.org/obo/MONDO_0001528 vulva cancer 'vulva cancer' SubClassOf 'female reproductive organ cancer' 'vulva cancer' SubClassOf 'Genital neoplasm, female' http://purl.obolibrary.org/obo/MONDO_0025511 inherited neuroendocrine tumor 'inherited neuroendocrine tumor' SubClassOf 'has modifier' some 'rare' 'inherited neuroendocrine tumor' SubClassOf 'genetic disorder' 'inherited neuroendocrine tumor' EquivalentTo 'neuroendocrine neoplasm' and ('has modifier' some 'inherited') 'inherited neuroendocrine tumor' SubClassOf 'neuroendocrine neoplasm' http://purl.obolibrary.org/obo/MONDO_0001583 diabetic polyneuropathy 'diabetic polyneuropathy' SubClassOf 'diabetic nephropathy' http://purl.obolibrary.org/obo/MONDO_0013389 developmental and epileptic encephalopathy, 12 'developmental and epileptic encephalopathy, 12' SubClassOf 'Rare syndromic dyslipidemia' http://purl.obolibrary.org/obo/UBERON_0005870 olfactory pit 'olfactory pit' SubClassOf 'part_of' some 'anatomical structure' http://purl.obolibrary.org/obo/CL_2000018 endothelial cell of coronary artery 'endothelial cell of coronary artery' SubClassOf 'heart component' http://purl.obolibrary.org/obo/MONDO_0001402 vaginal cancer 'vaginal cancer' SubClassOf 'female reproductive organ cancer' 'vaginal cancer' SubClassOf 'Genital neoplasm, female' 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_0001416 female reproductive organ cancer 'female reproductive organ cancer' SubClassOf 'reproductive system cancer' 'female reproductive organ cancer' SubClassOf 'female reproductive system neoplasm' http://www.ebi.ac.uk/efo/EFO_0006352 laryngeal squamous cell carcinoma 'laryngeal squamous cell carcinoma' SubClassOf 'carcinoma' and ('has_disease_location' some ('larynx' or ('part_of' some 'larynx'))) 'laryngeal squamous cell carcinoma' SubClassOf 'has_disease_location' some ('larynx' or ('part_of' some 'larynx')) http://www.ebi.ac.uk/efo/EFO_0006355 143B '143B' SubClassOf 'cancer cell line' '143B' SubClassOf 'osteosarcoma cell line' http://purl.obolibrary.org/obo/UBERON_0005725 olfactory system 'olfactory system' SubClassOf 'anatomical structure' 'olfactory system' SubClassOf 'sensory system' http://purl.obolibrary.org/obo/UBERON_0005721 pronephric mesoderm 'pronephric mesoderm' SubClassOf 'part_of' some 'embryo' http://www.ebi.ac.uk/efo/EFO_0006365 C4-2B 'C4-2B' SubClassOf 'cancer cell line' 'C4-2B' SubClassOf 'prostate cancer cell line' http://purl.obolibrary.org/obo/MONDO_0013276 Reynolds syndrome 'Reynolds syndrome' SubClassOf 'Rare genetic systemic or rheumatologic disease' http://www.ebi.ac.uk/efo/EFO_0006389 DLD1 'DLD1' SubClassOf 'colonic cancer cell line' http://purl.obolibrary.org/obo/UBERON_2001431 primitive olfactory epithelium 'primitive olfactory epithelium' SubClassOf 'part_of' some 'embryo' http://www.orpha.net/ORDO/Orphanet_140997 Orofaciodigital syndrome 'Orofaciodigital syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Orofaciodigital syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' http://www.orpha.net/ORDO/Orphanet_88918 Autosomal dominant Alport syndrome 'Autosomal dominant Alport syndrome' SubClassOf 'autosomal dominant disease' 'Autosomal dominant Alport syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0022672 http://www.orpha.net/ORDO/Orphanet_369894 Early infantile epileptic encephalopathy without suppression burst 'Early infantile epileptic encephalopathy without suppression burst' SubClassOf 'Developmental anomaly of metabolic origin' 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 http://purl.obolibrary.org/obo/MONDO_0100257 'Disorder of glyoxylate metabolism' SubClassOf 'Disorder of carbohydrate metabolism' http://www.orpha.net/ORDO/Orphanet_247794 Juvenile cataract - microcornea - renal glucosuria 'Juvenile cataract - microcornea - renal glucosuria' SubClassOf 'Syndromic cataract' 'Juvenile cataract - microcornea - renal glucosuria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0022672 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' EquivalentTo 'hyperlipidemia' and ('has modifier' some 'inherited') 'familial hyperlipidemia' SubClassOf 'hyperlipidemia' http://www.ebi.ac.uk/efo/EFO_0006307 UKE1 'UKE1' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0008997 synovitis 'synovitis' SubClassOf 'rheumatic disease' 'synovitis' SubClassOf 'disease has feature' some 'arthritis' 'synovitis' SubClassOf 'arthritis' 'synovitis' SubClassOf 'serositis' 'synovitis' SubClassOf 'synovium disease' http://purl.obolibrary.org/obo/MONDO_0013334 cocoon syndrome 'cocoon syndrome' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0006282 KM12 'KM12' SubClassOf 'colonic cancer cell line' http://www.ebi.ac.uk/efo/EFO_0006289 OCI-AML3 'OCI-AML3' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0006287 Mono Mac 6 'Mono Mac 6' SubClassOf 'cancer cell line' http://purl.obolibrary.org/obo/UBERON_2001378 axial hypoblast 'axial hypoblast' SubClassOf 'part_of' some 'embryo' http://purl.obolibrary.org/obo/MONDO_0013196 colorectal cancer, hereditary nonpolyposis, type 8 'colorectal cancer, hereditary nonpolyposis, type 8' SubClassOf 'Lynch syndrome' 'colorectal cancer, hereditary nonpolyposis, type 8' SubClassOf 'hereditary nonpolyposis colon cancer' http://purl.obolibrary.org/obo/UBERON_0003027 cingulate cortex 'cingulate cortex' SubClassOf 'part_of' some 'nervous system' http://purl.obolibrary.org/obo/UBERON_0003086 caudal artery 'caudal artery' SubClassOf 'blood vessel' http://purl.obolibrary.org/obo/UBERON_0003083 trunk neural crest 'trunk neural crest' SubClassOf 'part_of' some 'embryo' http://purl.obolibrary.org/obo/UBERON_0003099 cranial neural crest 'cranial neural crest' SubClassOf 'part_of' some 'embryonic structure' 'cranial neural crest' SubClassOf 'part_of' some 'multicellular organism' 'cranial neural crest' SubClassOf 'part_of' some 'embryo' http://www.orpha.net/ORDO/Orphanet_140944 CLOVE syndrome 'CLOVE syndrome' SubClassOf 'Genetic subcutaneous tissue disorder' http://purl.obolibrary.org/obo/UBERON_0003040 central gray substance of midbrain 'central gray substance of midbrain' SubClassOf 'part_of' some 'brain' http://purl.obolibrary.org/obo/UBERON_0003050 olfactory placode 'olfactory placode' SubClassOf 'part_of' some 'embryo' http://purl.obolibrary.org/obo/UBERON_0003059 presomitic mesoderm 'presomitic mesoderm' SubClassOf 'embryonic structure' 'presomitic mesoderm' SubClassOf 'part_of' some 'embryo' http://purl.obolibrary.org/obo/MONDO_0003812 ovarian endometrial cancer 'ovarian endometrial cancer' SubClassOf 'female reproductive endometrioid cancer' 'ovarian endometrial cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002480 http://purl.obolibrary.org/obo/UBERON_0003061 blood island 'blood island' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0003068 axial mesoderm 'axial mesoderm' SubClassOf 'part_of' some 'embryo' 'axial mesoderm' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0003073 lens placode 'lens placode' SubClassOf 'embryonic structure' 'lens placode' SubClassOf 'part_of' some 'embryo' http://purl.obolibrary.org/obo/UBERON_0003071 eye primordium 'eye primordium' SubClassOf 'part_of' some 'embryonic structure' 'eye primordium' SubClassOf 'part_of' some 'multicellular organism' 'eye primordium' SubClassOf 'part_of' some 'embryo' 'eye primordium' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0003078 epibranchial placode 'epibranchial placode' SubClassOf 'part_of' some 'embryo' http://purl.obolibrary.org/obo/UBERON_0003077 paraxial mesoderm 'paraxial mesoderm' SubClassOf 'part_of' some 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0003079 floor plate 'floor plate' SubClassOf 'part_of' some 'embryo' http://purl.obolibrary.org/obo/MONDO_0011895 idiopathic hypereosinophilic syndrome 'idiopathic hypereosinophilic syndrome' SubClassOf 'idiopathic cardiomyopathy' 'idiopathic hypereosinophilic syndrome' EquivalentTo 'Hypereosinophilic syndrome' and ('has modifier' some 'idiopathic') 'idiopathic hypereosinophilic syndrome' SubClassOf 'Hypereosinophilic syndrome' http://www.ebi.ac.uk/efo/EFO_0600019 COVID-19 symptoms measurement 'COVID-19 symptoms measurement' SubClassOf 'infectious disease biomarker' 'COVID-19 symptoms measurement' SubClassOf 'is_about' some 'COVID-19' http://www.ebi.ac.uk/efo/EFO_0600028 N-acylethanolamine measurement 'N-acylethanolamine measurement' SubClassOf 'lipid measurement' 'N-acylethanolamine measurement' SubClassOf 'is_about' some 'N-acylethanolamine' http://www.ebi.ac.uk/efo/EFO_0600027 hemoglobin change measurement 'hemoglobin change measurement' SubClassOf 'hemoglobin measurement' http://www.ebi.ac.uk/efo/EFO_0600024 response to tofacitinib 'response to tofacitinib' SubClassOf 'is_about' some 'rheumatoid arthritis' 'response to tofacitinib' SubClassOf 'is_about' some 'Herpes Zoster' 'response to tofacitinib' SubClassOf 'is_about' some 'ulcerative colitis' 'response to tofacitinib' SubClassOf 'response to drug' 'response to tofacitinib' SubClassOf 'is_about' some 'psoriatic arthritis' http://www.ebi.ac.uk/efo/EFO_0600023 response to immune checkpoint inhibitor 'response to immune checkpoint inhibitor' SubClassOf 'is_about' some 'adverse effect' 'response to immune checkpoint inhibitor' SubClassOf 'response to antineoplastic agent' http://www.ebi.ac.uk/efo/EFO_0600026 aortic vascular smooth muscle cell proliferation measurement 'aortic vascular smooth muscle cell proliferation measurement' SubClassOf 'is_about' some 'vascular smooth muscle cell' 'aortic vascular smooth muscle cell proliferation measurement' SubClassOf 'cardiovascular measurement' 'aortic vascular smooth muscle cell proliferation measurement' SubClassOf 'is_about' some 'aorta' http://www.ebi.ac.uk/efo/EFO_0600025 aortic vascular smooth muscle cell calcification measurement 'aortic vascular smooth muscle cell calcification measurement' SubClassOf 'is_about' some 'vascular smooth muscle cell' 'aortic vascular smooth muscle cell calcification measurement' SubClassOf 'is_about' some 'aorta' 'aortic vascular smooth muscle cell calcification measurement' SubClassOf 'cardiovascular measurement' http://www.ebi.ac.uk/efo/EFO_0600020 time to remission of COVID-19 symptoms 'time to remission of COVID-19 symptoms' SubClassOf 'is_about' some 'remission' 'time to remission of COVID-19 symptoms' SubClassOf 'COVID-19 symptoms measurement' http://www.ebi.ac.uk/efo/EFO_0600022 response to gamma-aminobutyric acid receptor agonists 'response to gamma-aminobutyric acid receptor agonists' SubClassOf 'is_about' some 'gamma-aminobutyric acid' 'response to gamma-aminobutyric acid receptor agonists' SubClassOf 'response to drug' http://www.ebi.ac.uk/efo/EFO_0600021 response to dietary selenium supplementation 'response to dietary selenium supplementation' SubClassOf 'is_about' some 'selenium' 'response to dietary selenium supplementation' SubClassOf 'response to diet' http://www.ebi.ac.uk/efo/EFO_0600031 response to benznidazole 'response to benznidazole' SubClassOf 'response to antiparasitic agent' 'response to benznidazole' SubClassOf 'is_about' some 'Chagas disease' 'response to benznidazole' SubClassOf 'is_about' some 'parasitic infection' http://www.ebi.ac.uk/efo/EFO_0600030 response to antiparasitic agent 'response to antiparasitic agent' SubClassOf 'response to drug' 'response to antiparasitic agent' SubClassOf 'is_about' some 'parasitic infection' http://www.ebi.ac.uk/efo/EFO_0600032 congenital right-sided heart lesions 'congenital right-sided heart lesions' SubClassOf 'congenital heart malformation' 'congenital right-sided heart lesions' SubClassOf 'is_about' some 'heart' http://purl.obolibrary.org/obo/MONDO_0018044 idiopathic hypersomnia 'idiopathic hypersomnia' SubClassOf 'hypersomnia' 'idiopathic hypersomnia' SubClassOf 'has modifier' some 'rare' 'idiopathic hypersomnia' EquivalentTo 'hypersomnia' and ('has modifier' some 'idiopathic') 'idiopathic hypersomnia' SubClassOf 'idiopathic disease' http://purl.obolibrary.org/obo/MONDO_0004573 ariboflavinosis 'ariboflavinosis' SubClassOf 'Inborn errors of metabolism' 'ariboflavinosis' SubClassOf 'nutritional deficiency disease' http://purl.obolibrary.org/obo/MONDO_0100390 acute myeloid leukemia, der12p 'acute myeloid leukemia, der12p' SubClassOf 'bilineal acute myeloid leukemia' 'acute myeloid leukemia, der12p' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, der12p' SubClassOf 'acute leukemia of ambiguous lineage' 'acute myeloid leukemia, der12p' SubClassOf 'Inherited acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100391 acute myeloid leukemia, t(2;12) 'acute myeloid leukemia, t(2;12)' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, t(2;12)' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, t(2;12)' SubClassOf 'acute leukemia of ambiguous lineage' 'acute myeloid leukemia, t(2;12)' SubClassOf 'bilineal acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100392 acute myeloid leukemia, t(11;17) 'acute myeloid leukemia, t(11;17)' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, t(11;17)' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, t(11;17)' SubClassOf 'acute leukemia of ambiguous lineage' 'acute myeloid leukemia, t(11;17)' SubClassOf 'bilineal acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100393 acute myeloid leukemia, t(8;16) 'acute myeloid leukemia, t(8;16)' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, t(8;16)' SubClassOf 'acute leukemia of ambiguous lineage' 'acute myeloid leukemia, t(8;16)' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, t(8;16)' SubClassOf 'bilineal acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100394 acute myeloid leukemia, t(1;22) 'acute myeloid leukemia, t(1;22)' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, t(1;22)' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, t(1;22)' SubClassOf 'acute leukemia of ambiguous lineage' 'acute myeloid leukemia, t(1;22)' SubClassOf 'bilineal acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100395 acute myeloid leukemia, t(5;11)(q35;p15) 'acute myeloid leukemia, t(5;11)(q35;p15)' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, t(5;11)(q35;p15)' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, t(5;11)(q35;p15)' SubClassOf 'bilineal acute myeloid leukemia' 'acute myeloid leukemia, t(5;11)(q35;p15)' SubClassOf 'acute leukemia of ambiguous lineage' http://purl.obolibrary.org/obo/MONDO_0100396 acute myeloid leukemia, t(7;12)(q36;p13) 'acute myeloid leukemia, t(7;12)(q36;p13)' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, t(7;12)(q36;p13)' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, t(7;12)(q36;p13)' SubClassOf 'acute leukemia of ambiguous lineage' 'acute myeloid leukemia, t(7;12)(q36;p13)' SubClassOf 'bilineal acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100397 acute myeloid leukemia, t(9;22)(q34.1;q11.2) 'acute myeloid leukemia, t(9;22)(q34.1;q11.2)' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, t(9;22)(q34.1;q11.2)' SubClassOf 'bilineal acute myeloid leukemia' 'acute myeloid leukemia, t(9;22)(q34.1;q11.2)' SubClassOf 'acute leukemia of ambiguous lineage' 'acute myeloid leukemia, t(9;22)(q34.1;q11.2)' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100398 acute myeloid leukemia, inv(3)(q21.3;q26.2) 'acute myeloid leukemia, inv(3)(q21.3;q26.2)' SubClassOf 'acute leukemia of ambiguous lineage' 'acute myeloid leukemia, inv(3)(q21.3;q26.2)' SubClassOf 'bilineal acute myeloid leukemia' 'acute myeloid leukemia, inv(3)(q21.3;q26.2)' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, inv(3)(q21.3;q26.2)' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100399 acute myeloid leukemia, t(3;3)(q21.3;q26.2) 'acute myeloid leukemia, t(3;3)(q21.3;q26.2)' SubClassOf 'bilineal acute myeloid leukemia' 'acute myeloid leukemia, t(3;3)(q21.3;q26.2)' SubClassOf 'acute leukemia of ambiguous lineage' 'acute myeloid leukemia, t(3;3)(q21.3;q26.2)' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, t(3;3)(q21.3;q26.2)' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100372 disorder of peroxisomal transporter 'disorder of peroxisomal transporter' SubClassOf 'peroxisomal single enzyme/protein defect' http://purl.obolibrary.org/obo/MONDO_0100373 acute myeloid leukemia, inv(16)(p13.1;q22) 'acute myeloid leukemia, inv(16)(p13.1;q22)' SubClassOf 'acute leukemia of ambiguous lineage' 'acute myeloid leukemia, inv(16)(p13.1;q22)' SubClassOf 'bilineal acute myeloid leukemia' 'acute myeloid leukemia, inv(16)(p13.1;q22)' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, inv(16)(p13.1;q22)' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100374 acute myeloid leukemia, t(16;16)(p13.1;q22) 'acute myeloid leukemia, t(16;16)(p13.1;q22)' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, t(16;16)(p13.1;q22)' SubClassOf 'acute leukemia of ambiguous lineage' 'acute myeloid leukemia, t(16;16)(p13.1;q22)' SubClassOf 'bilineal acute myeloid leukemia' 'acute myeloid leukemia, t(16;16)(p13.1;q22)' SubClassOf 'Inherited acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100375 acute myeloid leukemia, t(15;17)(q24;q21) 'acute myeloid leukemia, t(15;17)(q24;q21)' SubClassOf 'bilineal acute myeloid leukemia' 'acute myeloid leukemia, t(15;17)(q24;q21)' SubClassOf 'acute leukemia of ambiguous lineage' 'acute myeloid leukemia, t(15;17)(q24;q21)' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, t(15;17)(q24;q21)' SubClassOf 'Inherited acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100376 acute myeloid leukemia, t(9;11)(p21.3;q23.3) 'acute myeloid leukemia, t(9;11)(p21.3;q23.3)' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, t(9;11)(p21.3;q23.3)' SubClassOf 'acute leukemia of ambiguous lineage' 'acute myeloid leukemia, t(9;11)(p21.3;q23.3)' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, t(9;11)(p21.3;q23.3)' SubClassOf 'bilineal acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100377 acute myeloid leukemia, t(10;11)(p12;q23) 'acute myeloid leukemia, t(10;11)(p12;q23)' SubClassOf 'bilineal acute myeloid leukemia' 'acute myeloid leukemia, t(10;11)(p12;q23)' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, t(10;11)(p12;q23)' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, t(10;11)(p12;q23)' SubClassOf 'acute leukemia of ambiguous lineage' http://purl.obolibrary.org/obo/MONDO_0100378 acute myeloid leukemia, t(10;11)(p11.2;q23) 'acute myeloid leukemia, t(10;11)(p11.2;q23)' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, t(10;11)(p11.2;q23)' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, t(10;11)(p11.2;q23)' SubClassOf 'bilineal acute myeloid leukemia' 'acute myeloid leukemia, t(10;11)(p11.2;q23)' SubClassOf 'acute leukemia of ambiguous lineage' http://purl.obolibrary.org/obo/MONDO_0100379 acute myeloid leukemia, t(1;11)(q21;q23) 'acute myeloid leukemia, t(1;11)(q21;q23)' SubClassOf 'acute leukemia of ambiguous lineage' 'acute myeloid leukemia, t(1;11)(q21;q23)' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, t(1;11)(q21;q23)' SubClassOf 'bilineal acute myeloid leukemia' 'acute myeloid leukemia, t(1;11)(q21;q23)' SubClassOf 'Inherited acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100380 acute myeloid leukemia, t(4;11)(q21;q23) 'acute myeloid leukemia, t(4;11)(q21;q23)' SubClassOf 'acute leukemia of ambiguous lineage' 'acute myeloid leukemia, t(4;11)(q21;q23)' SubClassOf 'bilineal acute myeloid leukemia' 'acute myeloid leukemia, t(4;11)(q21;q23)' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, t(4;11)(q21;q23)' SubClassOf 'Inherited acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100381 acute myeloid leukemia, t(6;11)(q27;q23) 'acute myeloid leukemia, t(6;11)(q27;q23)' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, t(6;11)(q27;q23)' SubClassOf 'acute leukemia of ambiguous lineage' 'acute myeloid leukemia, t(6;11)(q27;q23)' SubClassOf 'bilineal acute myeloid leukemia' 'acute myeloid leukemia, t(6;11)(q27;q23)' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100382 acute myeloid leukemia, t(6;9)(p23;q34.1) 'acute myeloid leukemia, t(6;9)(p23;q34.1)' SubClassOf 'bilineal acute myeloid leukemia' 'acute myeloid leukemia, t(6;9)(p23;q34.1)' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, t(6;9)(p23;q34.1)' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, t(6;9)(p23;q34.1)' SubClassOf 'acute leukemia of ambiguous lineage' http://purl.obolibrary.org/obo/MONDO_0100383 acute myeloid leukemia, t(11;19)(q23;p13) 'acute myeloid leukemia, t(11;19)(q23;p13)' SubClassOf 'bilineal acute myeloid leukemia' 'acute myeloid leukemia, t(11;19)(q23;p13)' SubClassOf 'acute leukemia of ambiguous lineage' 'acute myeloid leukemia, t(11;19)(q23;p13)' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, t(11;19)(q23;p13)' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100384 acute myeloid leukemia, t(11;19)(q23;p13.1) 'acute myeloid leukemia, t(11;19)(q23;p13.1)' SubClassOf 'acute leukemia of ambiguous lineage' 'acute myeloid leukemia, t(11;19)(q23;p13.1)' SubClassOf 'bilineal acute myeloid leukemia' 'acute myeloid leukemia, t(11;19)(q23;p13.1)' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, t(11;19)(q23;p13.1)' SubClassOf 'Inherited acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100385 acute myeloid leukemia, t(11;19)(q23.3;p13.3) 'acute myeloid leukemia, t(11;19)(q23.3;p13.3)' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, t(11;19)(q23.3;p13.3)' SubClassOf 'acute leukemia of ambiguous lineage' 'acute myeloid leukemia, t(11;19)(q23.3;p13.3)' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, t(11;19)(q23.3;p13.3)' SubClassOf 'bilineal acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100386 acute myeloid leukemia, t(v;11q23.3) 'acute myeloid leukemia, t(v;11q23.3)' SubClassOf 'bilineal acute myeloid leukemia' 'acute myeloid leukemia, t(v;11q23.3)' SubClassOf 'acute leukemia of ambiguous lineage' 'acute myeloid leukemia, t(v;11q23.3)' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, t(v;11q23.3)' SubClassOf 'Inherited acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100387 acute myeloid leukemia, Monosomy 7 'acute myeloid leukemia, Monosomy 7' SubClassOf 'bilineal acute myeloid leukemia' 'acute myeloid leukemia, Monosomy 7' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, Monosomy 7' SubClassOf 'acute leukemia of ambiguous lineage' 'acute myeloid leukemia, Monosomy 7' SubClassOf 'Inherited acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100388 acute myeloid leukemia, Monosomy 5 'acute myeloid leukemia, Monosomy 5' SubClassOf 'acute leukemia of ambiguous lineage' 'acute myeloid leukemia, Monosomy 5' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, Monosomy 5' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, Monosomy 5' SubClassOf 'bilineal acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100389 acute myeloid leukemia, Trisomy 8 'acute myeloid leukemia, Trisomy 8' SubClassOf 'bilineal acute myeloid leukemia' 'acute myeloid leukemia, Trisomy 8' SubClassOf 'acute leukemia of ambiguous lineage' 'acute myeloid leukemia, Trisomy 8' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, Trisomy 8' SubClassOf 'Inherited acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100358 ectodermal dysplasia WNT10A related 'ectodermal dysplasia WNT10A related' SubClassOf 'Ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0100410 acute myeloid leukemia, t(16;21)(p11;q22) 'acute myeloid leukemia, t(16;21)(p11;q22)' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, t(16;21)(p11;q22)' SubClassOf 'bilineal acute myeloid leukemia' 'acute myeloid leukemia, t(16;21)(p11;q22)' SubClassOf 'acute leukemia of ambiguous lineage' 'acute myeloid leukemia, t(16;21)(p11;q22)' SubClassOf 'Inherited acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100411 acute myeloid leukemia, NPM1 gene mutation 'acute myeloid leukemia, NPM1 gene mutation' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, NPM1 gene mutation' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, NPM1 gene mutation' SubClassOf 'bilineal acute myeloid leukemia' 'acute myeloid leukemia, NPM1 gene mutation' SubClassOf 'acute leukemia of ambiguous lineage' http://purl.obolibrary.org/obo/MONDO_0100412 acute myeloid leukemia, monoallelic CEBPA gene mutation 'acute myeloid leukemia, monoallelic CEBPA gene mutation' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, monoallelic CEBPA gene mutation' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, monoallelic CEBPA gene mutation' SubClassOf 'bilineal acute myeloid leukemia' 'acute myeloid leukemia, monoallelic CEBPA gene mutation' SubClassOf 'acute leukemia of ambiguous lineage' http://purl.obolibrary.org/obo/MONDO_0100413 acute myeloid leukemia, biallelic CEBPA gene mutation 'acute myeloid leukemia, biallelic CEBPA gene mutation' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, biallelic CEBPA gene mutation' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, biallelic CEBPA gene mutation' SubClassOf 'acute leukemia of ambiguous lineage' 'acute myeloid leukemia, biallelic CEBPA gene mutation' SubClassOf 'bilineal acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100414 acute myeloid leukemia, CEBPA gene mutation 'acute myeloid leukemia, CEBPA gene mutation' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, CEBPA gene mutation' SubClassOf 'acute leukemia of ambiguous lineage' 'acute myeloid leukemia, CEBPA gene mutation' SubClassOf 'bilineal acute myeloid leukemia' 'acute myeloid leukemia, CEBPA gene mutation' SubClassOf 'Inherited acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100415 acute myeloid leukemia, FLT3 internal tandem duplication 'acute myeloid leukemia, FLT3 internal tandem duplication' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, FLT3 internal tandem duplication' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, FLT3 internal tandem duplication' SubClassOf 'acute leukemia of ambiguous lineage' 'acute myeloid leukemia, FLT3 internal tandem duplication' SubClassOf 'bilineal acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100416 acute myeloid leukemia, FLT3 tyrosine kinase domain point mutation 'acute myeloid leukemia, FLT3 tyrosine kinase domain point mutation' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, FLT3 tyrosine kinase domain point mutation' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, FLT3 tyrosine kinase domain point mutation' SubClassOf 'acute leukemia of ambiguous lineage' 'acute myeloid leukemia, FLT3 tyrosine kinase domain point mutation' SubClassOf 'bilineal acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100417 acute myeloid leukemia, WT1 gene mutation 'acute myeloid leukemia, WT1 gene mutation' SubClassOf 'bilineal acute myeloid leukemia' 'acute myeloid leukemia, WT1 gene mutation' SubClassOf 'acute leukemia of ambiguous lineage' 'acute myeloid leukemia, WT1 gene mutation' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, WT1 gene mutation' SubClassOf 'Inherited acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100418 acute myeloid leukemia, KIT exon 17 mutation 'acute myeloid leukemia, KIT exon 17 mutation' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, KIT exon 17 mutation' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, KIT exon 17 mutation' SubClassOf 'acute leukemia of ambiguous lineage' 'acute myeloid leukemia, KIT exon 17 mutation' SubClassOf 'bilineal acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100419 acute myeloid leukemia, KIT exon 8 mutation 'acute myeloid leukemia, KIT exon 8 mutation' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, KIT exon 8 mutation' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, KIT exon 8 mutation' SubClassOf 'acute leukemia of ambiguous lineage' 'acute myeloid leukemia, KIT exon 8 mutation' SubClassOf 'bilineal acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100420 acute myeloid leukemia, KIT gene mutation 'acute myeloid leukemia, KIT gene mutation' SubClassOf 'acute leukemia of ambiguous lineage' 'acute myeloid leukemia, KIT gene mutation' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, KIT gene mutation' SubClassOf 'bilineal acute myeloid leukemia' 'acute myeloid leukemia, KIT gene mutation' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100421 acute myeloid leukemia, GATA1 gene mutation 'acute myeloid leukemia, GATA1 gene mutation' SubClassOf 'bilineal acute myeloid leukemia' 'acute myeloid leukemia, GATA1 gene mutation' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, GATA1 gene mutation' SubClassOf 'acute leukemia of ambiguous lineage' 'acute myeloid leukemia, GATA1 gene mutation' SubClassOf 'Inherited acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100422 acute myeloid leukemia, RUNX1 gene mutation 'acute myeloid leukemia, RUNX1 gene mutation' SubClassOf 'acute leukemia of ambiguous lineage' 'acute myeloid leukemia, RUNX1 gene mutation' SubClassOf 'bilineal acute myeloid leukemia' 'acute myeloid leukemia, RUNX1 gene mutation' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, RUNX1 gene mutation' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100423 acute myeloid leukemia, PTPN11 gene mutation 'acute myeloid leukemia, PTPN11 gene mutation' SubClassOf 'bilineal acute myeloid leukemia' 'acute myeloid leukemia, PTPN11 gene mutation' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, PTPN11 gene mutation' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, PTPN11 gene mutation' SubClassOf 'acute leukemia of ambiguous lineage' http://purl.obolibrary.org/obo/MONDO_0100424 acute myeloid leukemia, NRAS gene mutation 'acute myeloid leukemia, NRAS gene mutation' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, NRAS gene mutation' SubClassOf 'bilineal acute myeloid leukemia' 'acute myeloid leukemia, NRAS gene mutation' SubClassOf 'acute leukemia of ambiguous lineage' 'acute myeloid leukemia, NRAS gene mutation' SubClassOf 'Inherited acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100425 acute myeloid leukemia, KRAS gene mutation 'acute myeloid leukemia, KRAS gene mutation' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, KRAS gene mutation' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, KRAS gene mutation' SubClassOf 'bilineal acute myeloid leukemia' 'acute myeloid leukemia, KRAS gene mutation' SubClassOf 'acute leukemia of ambiguous lineage' http://purl.obolibrary.org/obo/MONDO_0100400 acute myeloid leukemia, t(3;12)(q23;p12.3) 'acute myeloid leukemia, t(3;12)(q23;p12.3)' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, t(3;12)(q23;p12.3)' SubClassOf 'bilineal acute myeloid leukemia' 'acute myeloid leukemia, t(3;12)(q23;p12.3)' SubClassOf 'acute leukemia of ambiguous lineage' 'acute myeloid leukemia, t(3;12)(q23;p12.3)' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100401 acute myeloid leukemia, del(5q31-q32) 'acute myeloid leukemia, del(5q31-q32)' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, del(5q31-q32)' SubClassOf 'acute leukemia of ambiguous lineage' 'acute myeloid leukemia, del(5q31-q32)' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, del(5q31-q32)' SubClassOf 'bilineal acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100402 acute myeloid leukemia, del(13q14-q21) 'acute myeloid leukemia, del(13q14-q21)' SubClassOf 'acute leukemia of ambiguous lineage' 'acute myeloid leukemia, del(13q14-q21)' SubClassOf 'bilineal acute myeloid leukemia' 'acute myeloid leukemia, del(13q14-q21)' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, del(13q14-q21)' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100403 acute myeloid leukemia, loss of chromosome 17p 'acute myeloid leukemia, loss of chromosome 17p' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, loss of chromosome 17p' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, loss of chromosome 17p' SubClassOf 'bilineal acute myeloid leukemia' 'acute myeloid leukemia, loss of chromosome 17p' SubClassOf 'acute leukemia of ambiguous lineage' http://purl.obolibrary.org/obo/MONDO_0100404 acute myeloid leukemia, MLL gene rearrangement 'acute myeloid leukemia, MLL gene rearrangement' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, MLL gene rearrangement' SubClassOf 'acute leukemia of ambiguous lineage' 'acute myeloid leukemia, MLL gene rearrangement' SubClassOf 'bilineal acute myeloid leukemia' 'acute myeloid leukemia, MLL gene rearrangement' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100405 acute myeloid leukemia, Non-KMT2A MLLT10 rearrangement positive 'acute myeloid leukemia, Non-KMT2A MLLT10 rearrangement positive' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, Non-KMT2A MLLT10 rearrangement positive' SubClassOf 'acute leukemia of ambiguous lineage' 'acute myeloid leukemia, Non-KMT2A MLLT10 rearrangement positive' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, Non-KMT2A MLLT10 rearrangement positive' SubClassOf 'bilineal acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100406 acute myeloid leukemia, inv(16)(p13.3;q24.3) 'acute myeloid leukemia, inv(16)(p13.3;q24.3)' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, inv(16)(p13.3;q24.3)' SubClassOf 'acute leukemia of ambiguous lineage' 'acute myeloid leukemia, inv(16)(p13.3;q24.3)' SubClassOf 'bilineal acute myeloid leukemia' 'acute myeloid leukemia, inv(16)(p13.3;q24.3)' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100407 acute myeloid leukemia, t(11;15)(p15;q35) 'acute myeloid leukemia, t(11;15)(p15;q35)' SubClassOf 'bilineal acute myeloid leukemia' 'acute myeloid leukemia, t(11;15)(p15;q35)' SubClassOf 'acute leukemia of ambiguous lineage' 'acute myeloid leukemia, t(11;15)(p15;q35)' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, t(11;15)(p15;q35)' SubClassOf 'Inherited acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100408 acute myeloid leukemia, t(16;21)(q24;q22) 'acute myeloid leukemia, t(16;21)(q24;q22)' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, t(16;21)(q24;q22)' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, t(16;21)(q24;q22)' SubClassOf 'acute leukemia of ambiguous lineage' 'acute myeloid leukemia, t(16;21)(q24;q22)' SubClassOf 'bilineal acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100409 acute myeloid leukemia, t(3;5)(q25;q34) 'acute myeloid leukemia, t(3;5)(q25;q34)' SubClassOf 'bilineal acute myeloid leukemia' 'acute myeloid leukemia, t(3;5)(q25;q34)' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, t(3;5)(q25;q34)' SubClassOf 'acute leukemia of ambiguous lineage' 'acute myeloid leukemia, t(3;5)(q25;q34)' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100272 peroxisome biogenesis disorder due to PEX7 defect 'peroxisome biogenesis disorder due to PEX7 defect' SubClassOf 'non-Zellweger spectrum disorder' http://purl.obolibrary.org/obo/MONDO_0100273 glyceronephosphate O-acyltransferase deficiency 'glyceronephosphate O-acyltransferase deficiency' SubClassOf 'disorder of plasmalogens biosynthesis' http://purl.obolibrary.org/obo/MONDO_0100274 alkylglycerone-phosphate synthase deficiency 'alkylglycerone-phosphate synthase deficiency' SubClassOf 'disorder of plasmalogens biosynthesis' http://purl.obolibrary.org/obo/MONDO_0100276 disorder of defective peroxisomal and mitochondrial fission 'disorder of defective peroxisomal and mitochondrial fission' SubClassOf 'Peroxisomal disease' http://purl.obolibrary.org/obo/MONDO_0100277 disorder of peroxisomal alpha oxidation 'disorder of peroxisomal alpha oxidation' SubClassOf 'peroxisomal single enzyme/protein defect' http://purl.obolibrary.org/obo/MONDO_0100278 alanine glyoxylate aminotransferase deficiency 'alanine glyoxylate aminotransferase deficiency' SubClassOf 'Disorder of glyoxylate metabolism' http://purl.obolibrary.org/obo/MONDO_0100257 peroxisomal single enzyme/protein defect 'peroxisomal single enzyme/protein defect' SubClassOf 'Peroxisomal disease' http://purl.obolibrary.org/obo/MONDO_0100258 phytanoyl-CoA hydroxylase deficiency 'phytanoyl-CoA hydroxylase deficiency' SubClassOf 'disorder of peroxisomal alpha oxidation' http://purl.obolibrary.org/obo/MONDO_0100265 peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain 'peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain' SubClassOf 'non-Zellweger spectrum disorder' 'peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain' SubClassOf 'Rhizomelic chondrodysplasia punctata' 'peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain' SubClassOf 'eye degenerative disease' http://purl.obolibrary.org/obo/MONDO_0100322 non-Zellweger spectrum disorder 'non-Zellweger spectrum disorder' SubClassOf 'Peroxisome biogenesis disorder-Zellweger syndrome spectrum' http://purl.obolibrary.org/obo/MONDO_0100306 disorder of defective peroxisome oxidative status 'disorder of defective peroxisome oxidative status' SubClassOf 'peroxisomal single enzyme/protein defect' http://purl.obolibrary.org/obo/MONDO_0100017 pityriasis rubra pilaris 'pityriasis rubra pilaris' SubClassOf 'erythrokeratoderma' 'pityriasis rubra pilaris' SubClassOf 'exanthem' http://purl.obolibrary.org/obo/MONDO_0600023 idiopathic inflammatory myopathy 'idiopathic inflammatory myopathy' SubClassOf 'myositis' http://purl.obolibrary.org/obo/MONDO_0700084 myopathy caused by mutation in GMPPB 'myopathy caused by mutation in GMPPB' SubClassOf 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' 'myopathy caused by mutation in GMPPB' SubClassOf 'myopathy' http://purl.obolibrary.org/obo/MONDO_0700075 congenital muscular dystrophy caused by mutation in POMGNT2 'congenital muscular dystrophy caused by mutation in POMGNT2' SubClassOf 'Congenital muscular dystrophy' 'congenital muscular dystrophy caused by mutation in POMGNT2' SubClassOf 'myopathy caused by mutation in POMGNT2' http://purl.obolibrary.org/obo/MONDO_0700071 myopathy caused by mutation in POMT2 'myopathy caused by mutation in POMT2' SubClassOf 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' 'myopathy caused by mutation in POMT2' SubClassOf 'myopathy' http://purl.obolibrary.org/obo/MONDO_0700070 myopathy caused by mutation in POMT1 'myopathy caused by mutation in POMT1' SubClassOf 'myopathy' 'myopathy caused by mutation in POMT1' SubClassOf 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' http://purl.obolibrary.org/obo/MONDO_0700069 myopathy caused by mutation in POMGNT2 'myopathy caused by mutation in POMGNT2' SubClassOf 'myopathy' 'myopathy caused by mutation in POMGNT2' SubClassOf 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' http://purl.obolibrary.org/obo/MONDO_0700068 myopathy caused by mutation in POMGNT1 'myopathy caused by mutation in POMGNT1' SubClassOf 'myopathy' 'myopathy caused by mutation in POMGNT1' SubClassOf 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' http://purl.obolibrary.org/obo/MONDO_0700065 trisomy 'trisomy' SubClassOf 'aneuploidy' http://purl.obolibrary.org/obo/MONDO_0700064 aneuploidy 'aneuploidy' SubClassOf 'Chromosomal anomaly' http://purl.obolibrary.org/obo/MONDO_0700067 myopathy caused by mutation in FKTN 'myopathy caused by mutation in FKTN' SubClassOf 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' 'myopathy caused by mutation in FKTN' SubClassOf 'myopathy' http://purl.obolibrary.org/obo/MONDO_0700066 myopathy caused by mutation in FKRP 'myopathy caused by mutation in FKRP' SubClassOf 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' 'myopathy caused by mutation in FKRP' SubClassOf 'myopathy' http://purl.obolibrary.org/obo/MONDO_0700061 mosaic vs complete 'mosaic vs complete' SubClassOf 'disease characteristic' http://purl.obolibrary.org/obo/MONDO_0700062 mosaic 'mosaic' SubClassOf 'mosaic vs complete' http://purl.obolibrary.org/obo/MONDO_0700057 neurological pain disorder 'neurological pain disorder' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/MONDO_0700007 idiopathic disease 'idiopathic disease' EquivalentTo 'disease' and ('has modifier' some 'idiopathic') 'idiopathic disease' SubClassOf 'has modifier' some 'idiopathic' 'idiopathic disease' SubClassOf 'disease' http://purl.obolibrary.org/obo/MONDO_0700003 obstetric disorder 'obstetric disorder' SubClassOf 'disease' 'obstetric disorder' EquivalentTo 'pregnancy disorder' or 'puerperal disorder' http://purl.obolibrary.org/obo/MONDO_0700002 ATP1A3-associated neurological disorder 'ATP1A3-associated neurological disorder' SubClassOf 'Rare genetic neurological disorder' http://purl.obolibrary.org/obo/MONDO_0700005 idiopathic 'idiopathic' SubClassOf 'idiopathic vs non-idiopathic' http://purl.obolibrary.org/obo/MONDO_0700004 idiopathic vs non-idiopathic 'idiopathic vs non-idiopathic' SubClassOf 'disease characteristic' http://www.ebi.ac.uk/efo/EFO_0030020 breast milk collection 'breast milk collection' SubClassOf 'collecting specimen from organism' http://www.ebi.ac.uk/efo/EFO_0030021 Nx1-seq 'Nx1-seq' SubClassOf 'single cell library construction' http://www.ebi.ac.uk/efo/EFO_0030017 RCH-ACV 'RCH-ACV' SubClassOf 'lymphoma or leukaemia cell line' 'RCH-ACV' SubClassOf 'derives_from' some ('bone marrow' and ('part_of' some 'Homo sapiens') and ('bearer_of' some 'acute lymphoblastic leukemia') and ('has_quality' some 'female')) http://www.ebi.ac.uk/efo/EFO_0030018 BLaER1 'BLaER1' SubClassOf 'derives_from' some 'RCH-ACV' 'BLaER1' SubClassOf 'lymphoma or leukaemia cell line' 'BLaER1' SubClassOf 'derives_from' some ('bone marrow' and ('part_of' some 'Homo sapiens') and ('bearer_of' some 'acute lymphoblastic leukemia') and ('has_quality' some 'female')) http://www.ebi.ac.uk/efo/EFO_0030016 sample splitting 'sample splitting' SubClassOf 'experimental process' http://www.ebi.ac.uk/efo/EFO_0030019 Seq-Well S3 'Seq-Well S3' SubClassOf 'Seq-Well' 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/MONDO_0044211 idiopathic urticaria 'idiopathic urticaria' EquivalentTo 'urticaria' and ('has modifier' some 'idiopathic') 'idiopathic urticaria' SubClassOf 'urticaria' 'idiopathic urticaria' SubClassOf 'idiopathic disease' http://purl.obolibrary.org/obo/MONDO_0022672 autosomal dominant cataract 'autosomal dominant cataract' SubClassOf 'Syndromic cataract' 'autosomal dominant cataract' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0005247 bacterial urinary tract infection 'bacterial urinary tract infection' DisjointWith 'parasitic infection' 'bacterial urinary tract infection' SubClassOf 'urinary tract infection' 'bacterial urinary tract infection' DisjointWith 'viral disease' 'bacterial urinary tract infection' SubClassOf 'bacterial disease' http://purl.obolibrary.org/obo/MONDO_0017258 idiopathic panuveitis 'idiopathic panuveitis' EquivalentTo 'panuveitis' and ('has modifier' some 'idiopathic') 'idiopathic panuveitis' SubClassOf 'panuveitis' 'idiopathic panuveitis' SubClassOf 'idiopathic disease' http://purl.obolibrary.org/obo/MONDO_0017256 idiopathic anterior uveitis 'idiopathic anterior uveitis' SubClassOf 'idiopathic disease' 'idiopathic anterior uveitis' EquivalentTo 'anterior uveitis' and ('has modifier' some 'idiopathic') 'idiopathic anterior uveitis' SubClassOf 'anterior uveitis' http://purl.obolibrary.org/obo/PATO_0001894 phenotypic sex 'phenotypic sex' SubClassOf 'biological sex' http://purl.obolibrary.org/obo/MONDO_0015713 idiopathic central precocious puberty 'idiopathic central precocious puberty' SubClassOf 'idiopathic disease' 'idiopathic central precocious puberty' EquivalentTo 'central precocious puberty' and ('has modifier' some 'idiopathic') 'idiopathic central precocious puberty' SubClassOf 'central precocious puberty' http://purl.obolibrary.org/obo/MONDO_0003540 acute T cell leukemia 'acute T cell leukemia' SubClassOf 'T-cell leukemia' 'acute T cell leukemia' SubClassOf 'acute lymphoblastic leukemia' http://purl.obolibrary.org/obo/MONDO_0015344 idiopathic acute transverse myelitis 'idiopathic acute transverse myelitis' SubClassOf 'idiopathic disease' 'idiopathic acute transverse myelitis' EquivalentTo 'acute transverse myelitis' and ('has modifier' some 'idiopathic') 'idiopathic acute transverse myelitis' SubClassOf 'acute transverse myelitis' http://purl.obolibrary.org/obo/MONDO_0003157 disappearing bone disease 'disappearing bone disease' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0001182 idiopathic corneal edema 'idiopathic corneal edema' SubClassOf 'idiopathic disease' 'idiopathic corneal edema' SubClassOf 'corneal edema' 'idiopathic corneal edema' EquivalentTo 'corneal edema' and ('has modifier' some 'idiopathic') 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_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_0021228 brainstem neoplasm 'brainstem neoplasm' SubClassOf 'brain neoplasm' 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_0021231 retina neoplasm 'retina neoplasm' SubClassOf 'nervous system neoplasm' 'retina neoplasm' SubClassOf 'eye neoplasm' 'retina neoplasm' SubClassOf 'retinopathy' http://purl.obolibrary.org/obo/MONDO_0021187 hyperlipidemia (disease) 'hyperlipidemia (disease)' SubClassOf 'metabolic disease' 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_0002352 larynx cancer 'larynx cancer' SubClassOf 'laryngeal neoplasm' 'larynx cancer' SubClassOf 'respiratory system cancer' 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_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_0002441 Jervell-Lange Nielsen syndrome 'Jervell-Lange Nielsen syndrome' SubClassOf 'syndromic disease' 'Jervell-Lange Nielsen syndrome' SubClassOf 'disease has feature' some 'torsades de pointes' 'Jervell-Lange Nielsen syndrome' SubClassOf 'congenital heart 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_0100338 urinary tract infection (disease) 'urinary tract infection (disease)' SubClassOf 'infectious disease' 'urinary tract infection (disease)' SubClassOf 'urinary system disease' http://purl.obolibrary.org/obo/MONDO_0100345 lactose intolerance (disease) 'lactose intolerance (disease)' SubClassOf 'nutritional disorder' 'lactose intolerance (disease)' SubClassOf 'Metabolic disease with intestinal involvement' 'lactose intolerance (disease)' SubClassOf 'malabsorption syndrome' 'lactose intolerance (disease)' SubClassOf 'Disorder of carbohydrate metabolism' 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/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_0019086 carcinoma of esophagus 'carcinoma of esophagus' SubClassOf 'esophageal cancer' 'carcinoma of esophagus' SubClassOf 'Digestive System Carcinoma' http://purl.obolibrary.org/obo/MONDO_0044792 large congenital melanocytic nevus 'large congenital melanocytic nevus' SubClassOf 'melanocytic nevus' 'large congenital melanocytic nevus' SubClassOf 'Genetic skin tumor' http://purl.obolibrary.org/obo/MONDO_0007608 desmoid tumor 'desmoid tumor' SubClassOf 'fibromatosis' 'desmoid tumor' SubClassOf 'Soft Tissue Neoplasm' 'desmoid tumor' SubClassOf 'has modifier' some 'rare' 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_0020641 respiratory tract neoplasm 'respiratory tract neoplasm' SubClassOf 'respiratory system disease' 'respiratory tract neoplasm' SubClassOf 'respiratory system neoplasm' http://purl.obolibrary.org/obo/MONDO_0007564 pilomatrixoma 'pilomatrixoma' SubClassOf 'hair follicle neoplasm' http://purl.obolibrary.org/obo/MONDO_0019467 CD4+/CD56+ hematodermic neoplasm 'CD4+/CD56+ hematodermic neoplasm' SubClassOf 'T-cell non-Hodgkin lymphoma' 'CD4+/CD56+ hematodermic neoplasm' SubClassOf 'genetic skin disease' 'CD4+/CD56+ hematodermic neoplasm' SubClassOf 'skin cancer' 'CD4+/CD56+ hematodermic neoplasm' SubClassOf 'myeloid neoplasm' http://purl.obolibrary.org/obo/MONDO_0003424 oncocytic adenoma 'oncocytic adenoma' SubClassOf 'oncocytic neoplasm' 'oncocytic adenoma' SubClassOf 'adenoma' 'oncocytic adenoma' EquivalentTo 'oncocytic neoplasm' and 'adenoma' http://purl.obolibrary.org/obo/MONDO_0025511 inherited neuroendocrine tumor 'inherited neuroendocrine tumor' SubClassOf 'has modifier' some 'rare' 'inherited neuroendocrine tumor' SubClassOf 'genetic disorder' 'inherited neuroendocrine tumor' EquivalentTo 'neuroendocrine neoplasm' and ('has modifier' some 'inherited') 'inherited neuroendocrine tumor' SubClassOf 'neuroendocrine 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_0001416 female reproductive organ cancer 'female reproductive organ cancer' SubClassOf 'reproductive system cancer' 'female reproductive organ cancer' SubClassOf 'female reproductive system neoplasm'