1919 389 45 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 '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.orpha.net/ORDO/Orphanet_397750 Periodic paralysis with later-onset distal motor neuropathy 'Periodic paralysis with later-onset distal motor neuropathy' SubClassOf 'congenital nervous system disorder' 'Periodic paralysis with later-onset distal motor neuropathy' SubClassOf 'neuromuscular 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://www.orpha.net/ORDO/Orphanet_69126 Pyogenic arthritis - pyoderma gangrenosum - acne 'Pyogenic arthritis - pyoderma gangrenosum - acne' SubClassOf 'Rare genetic systemic or rheumatologic disease' http://purl.obolibrary.org/obo/UBERON_0002428 limb bone 'limb bone' SubClassOf 'part of' some 'limb' 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' http://purl.obolibrary.org/obo/UBERON_0002420 basal ganglion 'basal ganglion' SubClassOf 'anatomical entity' 'basal ganglion' SubClassOf 'anatomical structure' http://www.ebi.ac.uk/efo/EFO_0000401 diabetic nephropathy 'diabetic nephropathy' SubClassOf 'nutritional or metabolic disease' 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 'vascular bone neoplasm' 'essential thrombocythemia' SubClassOf 'Rare genetic coagulation disorder' 'essential thrombocythemia' SubClassOf 'vascular cancer' 'essential thrombocythemia' SubClassOf 'thrombotic disorder due to a platelet anomaly' 'essential thrombocythemia' SubClassOf 'genetic vascular tumor' 'essential thrombocythemia' SubClassOf 'thrombocytosis disease' 'essential thrombocythemia' SubClassOf 'myeloproliferative disorder' 'essential thrombocythemia' SubClassOf 'Familial thrombocytosis' 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_1000217 Digestive System Adenoma 'Digestive System Adenoma' SubClassOf 'digestive system disease' http://www.ebi.ac.uk/efo/EFO_0000365 colorectal adenocarcinoma 'colorectal adenocarcinoma' SubClassOf 'colonic neoplasm' http://www.ebi.ac.uk/efo/EFO_0000398 dermatomyositis 'dermatomyositis' SubClassOf 'connective tissue disease' 'dermatomyositis' SubClassOf 'systemic disease with skin involvement' 'dermatomyositis' SubClassOf 'rheumatic disease' http://www.ebi.ac.uk/efo/EFO_0000389 cutaneous melanoma 'cutaneous melanoma' SubClassOf 'neuroendocrine carcinoma' 'cutaneous melanoma' SubClassOf 'malignant endocrine neoplasm' http://www.orpha.net/ORDO/Orphanet_1345 Cardiomyopathy - cataract - hip spine disease 'Cardiomyopathy - cataract - hip spine disease' SubClassOf 'Syndrome associated with dilated cardiomyopathy' 'Cardiomyopathy - cataract - hip spine disease' SubClassOf 'Syndrome associated with dilated cardiomyopathy' 'Cardiomyopathy - cataract - hip spine disease' SubClassOf 'disease has major feature' some 'articular cartilage disease' 'Cardiomyopathy - cataract - hip spine disease' SubClassOf 'syndromic disease' 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://purl.obolibrary.org/obo/MONDO_0033562 neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia 'neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia' SubClassOf 'genetic disorder' 'neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700092 'neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia' SubClassOf 'Rare genetic neurological disorder' 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.orpha.net/ORDO/Orphanet_1376 Congenital cataract - ichthyosis 'Congenital cataract - ichthyosis' SubClassOf 'Autosomal ichthyosis syndrome with other associated signs' 'Congenital cataract - ichthyosis' SubClassOf 'Autosomal ichthyosis syndrome with other associated signs' http://www.ebi.ac.uk/efo/EFO_1000185 Colon Juvenile Polyp 'Colon Juvenile Polyp' SubClassOf 'colonic neoplasm' http://www.orpha.net/ORDO/Orphanet_216820 Osteogenesis imperfecta type 4 'Osteogenesis imperfecta type 4' SubClassOf 'Rare genetic odontologic disease' 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_216812 Osteogenesis imperfecta type 3 'Osteogenesis imperfecta type 3' SubClassOf 'Rare genetic odontologic disease' http://www.orpha.net/ORDO/Orphanet_1328 Camurati-Engelmann disease 'Camurati-Engelmann disease' SubClassOf 'Primary bone dysplasia with increased bone density' 'Camurati-Engelmann disease' SubClassOf 'Primary bone dysplasia with increased bone density' http://www.orpha.net/ORDO/Orphanet_1331 Familial prostate cancer 'Familial prostate cancer' SubClassOf 'Rare genetic urogenital disease' 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_1000355 Malignant Mesothelioma 'Malignant Mesothelioma' SubClassOf 'bronchopulmonary tumor' 'Malignant Mesothelioma' SubClassOf 'respiratory system cancer' 'Malignant Mesothelioma' SubClassOf 'cancer' 'Malignant Mesothelioma' SubClassOf 'respiratory system disease' 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 'part of' some 'embryo' 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_0000330 childhood acute myeloid leukemia 'childhood acute myeloid leukemia' SubClassOf 'bilineal acute myeloid leukemia' 'childhood acute myeloid leukemia' SubClassOf 'acute leukemia of ambiguous lineage' http://www.ebi.ac.uk/efo/EFO_1000302 Infiltrating Bladder Lymphoepithelioma-Like Carcinoma 'Infiltrating Bladder Lymphoepithelioma-Like Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003572 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 'Rare genetic systemic or rheumatologic disease' 'Langerhans Cell Histiocytosis' SubClassOf 'systemic disease' 'Langerhans Cell Histiocytosis' SubClassOf 'myeloid neoplasm' http://www.orpha.net/ORDO/Orphanet_1190 Atelosteogenesis type I 'Atelosteogenesis type I' SubClassOf 'Primary bone dysplasia with multiple joint dislocations' 'Atelosteogenesis type I' SubClassOf 'Pierre Robin syndrome associated with bone disease' 'Atelosteogenesis type I' SubClassOf 'Primary bone dysplasia with multiple joint dislocations' 'Atelosteogenesis type I' SubClassOf 'Pierre Robin syndrome associated with bone disease' 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 'forelimb' 'metacarpal bone' SubClassOf 'part of' some 'limb' http://purl.obolibrary.org/obo/UBERON_0002376 cranial muscle 'cranial muscle' SubClassOf 'part of' some 'head' http://www.ebi.ac.uk/efo/EFO_1000334 Lung Lymphangioleiomyomatosis 'Lung Lymphangioleiomyomatosis' SubClassOf 'lung carcinoma' 'Lung Lymphangioleiomyomatosis' SubClassOf 'lung carcinoma' 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://www.orpha.net/ORDO/Orphanet_1263 Boomerang dysplasia 'Boomerang dysplasia' SubClassOf 'Primary bone dysplasia with multiple joint dislocations' 'Boomerang dysplasia' SubClassOf 'Primary bone dysplasia with multiple joint dislocations' 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://www.orpha.net/ORDO/Orphanet_94065 15q24 microdeletion syndrome '15q24 microdeletion syndrome' SubClassOf 'syndrome caused by partial chromosomal deletion' 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_0021470 benign neoplasm of pancreas 'benign neoplasm of pancreas' SubClassOf 'benign neoplasm' 'benign neoplasm of pancreas' SubClassOf 'benign digestive system neoplasm' http://www.orpha.net/ORDO/Orphanet_324977 Proteasome disability syndrome 'Proteasome disability syndrome' SubClassOf 'genetic skin disease' 'Proteasome disability syndrome' SubClassOf 'Rare genetic systemic or rheumatologic disease' 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://www.orpha.net/ORDO/Orphanet_324924 Hereditary periodic fever syndrome 'Hereditary periodic fever syndrome' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Hereditary periodic fever syndrome' SubClassOf 'Rare genetic systemic or rheumatologic disease' http://purl.obolibrary.org/obo/HP_0100033 Tics 'Tics' SubClassOf 'Abnormal central motor function' http://purl.obolibrary.org/obo/UBERON_0002228 rib 'rib' SubClassOf 'part of' some 'appendicular skeleton' http://purl.obolibrary.org/obo/UBERON_0004880 chordamesoderm 'chordamesoderm' SubClassOf 'part of' some 'embryo' 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_0000616 neoplasm 'neoplasm' DisjointWith 'vascular malformation' http://www.ebi.ac.uk/efo/EFO_1000036 lactic acidosis 'lactic acidosis' SubClassOf 'nutritional or metabolic disease' 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.orpha.net/ORDO/Orphanet_300547 Autosomal recessive infantile hypercalcemia 'Autosomal recessive infantile hypercalcemia' SubClassOf 'endocrine system disease' 'Autosomal recessive infantile hypercalcemia' SubClassOf 'endocrine system 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_0002299 alveolus of lung 'alveolus of lung' SubClassOf 'part of' some 'lung' http://www.orpha.net/ORDO/Orphanet_263463 CHST3-related skeletal dysplasia 'CHST3-related skeletal dysplasia' SubClassOf 'Primary bone dysplasia with multiple joint dislocations' 'CHST3-related skeletal dysplasia' SubClassOf 'Primary bone dysplasia with multiple joint dislocations' http://www.ebi.ac.uk/efo/EFO_0009028 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome 'Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome' SubClassOf 'has modifier' some 'rare' 'Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome' SubClassOf 'autosomal recessive disease' 'Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome' SubClassOf 'hereditary connective tissue disorder' 'Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome' SubClassOf 'rheumatic disease' http://www.ebi.ac.uk/efo/EFO_0000693 schwannoma 'schwannoma' SubClassOf 'tumour of cranial and spinal nerves' 'schwannoma' SubClassOf 'central nervous system cancer' http://www.ebi.ac.uk/efo/EFO_0010017 HTGTS-Rep-seq 'HTGTS-Rep-seq' SubClassOf 'assay' 'HTGTS-Rep-seq' SubClassOf http://www.ebi.ac.uk/efo/EFO_0030014 http://www.orpha.net/ORDO/Orphanet_238455 Infantile dystonia-parkinsonism 'Infantile dystonia-parkinsonism' SubClassOf 'parkinsonian syndrome due to neurodegenerative disease' 'Infantile dystonia-parkinsonism' SubClassOf 'parkinsonian syndrome due to neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_238459 SLC35A1-CDG 'SLC35A1-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'SLC35A1-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 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://www.orpha.net/ORDO/Orphanet_1598 Monosomy 18p 'Monosomy 18p' SubClassOf 'syndrome caused by partial chromosomal deletion' http://purl.obolibrary.org/obo/MONDO_0021364 neoplasm of oropharynx 'neoplasm of oropharynx' SubClassOf 'respiratory system neoplasm' 'neoplasm of oropharynx' SubClassOf 'digestive system disease' 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_1562 Dacryocystitis - osteopoikilosis 'Dacryocystitis - osteopoikilosis' SubClassOf 'Primary bone dysplasia with increased bone density' 'Dacryocystitis - osteopoikilosis' SubClassOf 'autosomal recessive disease' 'Dacryocystitis - osteopoikilosis' SubClassOf 'Primary bone dysplasia with increased bone density' 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.orpha.net/ORDO/Orphanet_1576 Infantile bilateral striatal necrosis 'Infantile bilateral striatal necrosis' SubClassOf 'miscellaneous movement disorder due to neurodegenerative disease' 'Infantile bilateral striatal necrosis' SubClassOf 'neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_1508 Coxoauricular syndrome 'Coxoauricular syndrome' SubClassOf 'Primary bone dysplasia with multiple joint dislocations' 'Coxoauricular syndrome' SubClassOf 'bone disease' 'Coxoauricular syndrome' SubClassOf 'Primary bone dysplasia with multiple joint dislocations' http://www.orpha.net/ORDO/Orphanet_1522 Craniometaphyseal dysplasia 'Craniometaphyseal dysplasia' SubClassOf 'Primary bone dysplasia with increased bone density' 'Craniometaphyseal dysplasia' SubClassOf 'Primary bone dysplasia with increased bone density' 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://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_0002107 liver 'liver' SubClassOf 'part of' some 'endocrine system' 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.orpha.net/ORDO/Orphanet_309025 Mevalonate kinase deficiency 'Mevalonate kinase deficiency' SubClassOf 'genetic skin disease' http://www.ebi.ac.uk/efo/EFO_1000168 Cervical Metaplasia 'Cervical Metaplasia' SubClassOf 'cervical adenocarcinoma' 'Cervical Metaplasia' SubClassOf 'cervix disease' 'Cervical Metaplasia' SubClassOf 'cervical adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1000166 Cervical Intraepithelial Neoplasia Grade 2/3 'Cervical Intraepithelial Neoplasia Grade 2/3' SubClassOf 'cervical adenocarcinoma' 'Cervical Intraepithelial Neoplasia Grade 2/3' SubClassOf 'cervical adenocarcinoma' 'Cervical Intraepithelial Neoplasia Grade 2/3' SubClassOf 'cervical intraepithelial neoplasia' 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_1000175 Chondroid Hamartoma 'Chondroid Hamartoma' SubClassOf 'neoplasm' 'Chondroid Hamartoma' SubClassOf 'hamartoma' http://www.ebi.ac.uk/efo/EFO_0000558 Kaposi's sarcoma 'Kaposi's sarcoma' SubClassOf 'human herpesvirus 8 infection' 'Kaposi's sarcoma' SubClassOf 'skin neoplasm' 'Kaposi's sarcoma' SubClassOf 'viral disease' 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_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://www.ebi.ac.uk/efo/EFO_0000589 metabolic disease 'metabolic disease' SubClassOf 'nutritional or metabolic disease' 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://www.orpha.net/ORDO/Orphanet_251347 Ataxia-telangiectasia-like disorder 'Ataxia-telangiectasia-like disorder' SubClassOf 'cerebellar degeneration' 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.orpha.net/ORDO/Orphanet_1493 Vici syndrome 'Vici syndrome' SubClassOf 'Syndrome associated with dilated cardiomyopathy' 'Vici syndrome' SubClassOf 'Syndrome associated with dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 'juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome' SubClassOf 'Juvenile polyposis syndrome' 'juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome' SubClassOf 'Genetic intestinal polyposis' 'juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome' SubClassOf 'intestinal polyposis syndrome' 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.orpha.net/ORDO/Orphanet_1427 Otospondylomegaepiphyseal dysplasia 'Otospondylomegaepiphyseal dysplasia' SubClassOf 'Type 11 collagen-related bone disorder' 'Otospondylomegaepiphyseal dysplasia' SubClassOf 'Type 2 collagen-related bone disorder' 'Otospondylomegaepiphyseal dysplasia' SubClassOf 'Type 11 collagen-related bone disorder' 'Otospondylomegaepiphyseal dysplasia' SubClassOf 'Type 2 collagen-related bone disorder' 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.orpha.net/ORDO/Orphanet_1425 Desbuquois syndrome 'Desbuquois syndrome' SubClassOf 'Primary bone dysplasia with multiple joint dislocations' 'Desbuquois syndrome' SubClassOf 'Primary bone dysplasia with multiple joint dislocations' http://www.orpha.net/ORDO/Orphanet_1422 Chondrodysplasia - disorder of sex development 'Chondrodysplasia - disorder of sex development' SubClassOf 'Primary bone dysplasia with micromelia' 'Chondrodysplasia - disorder of sex development' SubClassOf 'Primary bone dysplasia with micromelia' 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_1000072 Adenomatoid Odontogenic Tumor 'Adenomatoid Odontogenic Tumor' SubClassOf 'oral cavity cancer' 'Adenomatoid Odontogenic Tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021445 http://www.orpha.net/ORDO/Orphanet_1437 Ring chromosome 1 'Ring chromosome 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700091 http://www.orpha.net/ORDO/Orphanet_1438 Ring chromosome 10 'Ring chromosome 10' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700091 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.orpha.net/ORDO/Orphanet_397685 Familial hyperprolactinemia 'Familial hyperprolactinemia' SubClassOf 'female infertility' 'Familial hyperprolactinemia' SubClassOf 'male infertility' 'Familial hyperprolactinemia' SubClassOf 'female infertility' 'Familial hyperprolactinemia' SubClassOf 'male infertility' http://www.orpha.net/ORDO/Orphanet_1428 Familial chondromalacia patellae 'Familial chondromalacia patellae' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_1440 Ring chromosome 14 'Ring chromosome 14' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700091 http://www.orpha.net/ORDO/Orphanet_1441 Ring chromosome 17 'Ring chromosome 17' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700091 http://www.orpha.net/ORDO/Orphanet_1448 Ring chromosome 6 'Ring chromosome 6' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700091 http://www.orpha.net/ORDO/Orphanet_1449 Ring chromosome 7 'Ring chromosome 7' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700091 http://www.orpha.net/ORDO/Orphanet_1446 Ring chromosome 22 'Ring chromosome 22' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700091 http://www.orpha.net/ORDO/Orphanet_1447 Ring chromosome 4 'Ring chromosome 4' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700091 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.orpha.net/ORDO/Orphanet_1444 Ring chromosome 20 'Ring chromosome 20' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700091 http://www.orpha.net/ORDO/Orphanet_1445 Ring chromosome 21 'Ring chromosome 21' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700091 http://www.orpha.net/ORDO/Orphanet_1442 Ring chromosome 18 'Ring chromosome 18' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700091 http://www.ebi.ac.uk/efo/EFO_1000087 Angiomyxoma 'Angiomyxoma' SubClassOf 'connective tissue neoplasm' http://www.orpha.net/ORDO/Orphanet_1443 Ring chromosome 19 'Ring chromosome 19' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700091 http://www.orpha.net/ORDO/Orphanet_1439 Ring chromosome 12 'Ring chromosome 12' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700091 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' 'digestive system melanoma' SubClassOf 'digestive system neuroendocrine neoplasm' http://www.orpha.net/ORDO/Orphanet_98907 Dorfman-Chanarin disease 'Dorfman-Chanarin disease' SubClassOf 'Autosomal ichthyosis syndrome with other associated signs' 'Dorfman-Chanarin disease' SubClassOf 'Autosomal ichthyosis syndrome with other associated signs' 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_59306 McLeod neuroacanthocytosis syndrome 'McLeod neuroacanthocytosis syndrome' SubClassOf 'Syndrome associated with dilated cardiomyopathy' 'McLeod neuroacanthocytosis syndrome' SubClassOf 'Syndrome associated with dilated cardiomyopathy' 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.orpha.net/ORDO/Orphanet_248095 Primary hypertrophic osteoarthropathy 'Primary hypertrophic osteoarthropathy' SubClassOf 'Primary bone dysplasia with increased bone density' 'Primary hypertrophic osteoarthropathy' SubClassOf 'Primary bone dysplasia with increased bone density' http://www.orpha.net/ORDO/Orphanet_96334 Paternal uniparental disomy of chromosome 14 'Paternal uniparental disomy of chromosome 14' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700086 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/MONDO_0060704 neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures 'neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures' SubClassOf 'genetic disorder' 'neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures' SubClassOf 'Rare genetic neurological disorder' 'neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700092 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_0060752 neurodevelopmental disorder with spasticity and poor growth 'neurodevelopmental disorder with spasticity and poor growth' SubClassOf 'genetic disorder' 'neurodevelopmental disorder with spasticity and poor growth' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700092 'neurodevelopmental disorder with spasticity and poor growth' SubClassOf 'Rare genetic neurological disorder' 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_0060759 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 'neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures' SubClassOf 'genetic disorder' 'neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures' SubClassOf 'Rare genetic neurological disorder' 'neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures' SubClassOf 'syndromic disease' 'neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700092 http://purl.obolibrary.org/obo/MONDO_0021133 acquired factor XIII deficiency 'acquired factor XIII deficiency' SubClassOf 'acquired metabolic disease' '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 'intestine' 'colonic mucosa' SubClassOf 'part of' some 'large intestine' http://purl.obolibrary.org/obo/MONDO_0021187 hyperlipidemia (disease) 'hyperlipidemia (disease)' SubClassOf 'nutritional or metabolic disease' 'hyperlipidemia (disease)' SubClassOf 'metabolic disease' http://purl.obolibrary.org/obo/MONDO_0021184 deltaretrovirus infections 'deltaretrovirus infections' SubClassOf 'viral disease' 'deltaretrovirus infections' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100329 http://www.orpha.net/ORDO/Orphanet_141253 Oblique facial cleft 'Oblique facial cleft' SubClassOf 'hereditary connective tissue disorder' http://purl.obolibrary.org/obo/MONDO_0021179 proteostasis deficiencies 'proteostasis deficiencies' SubClassOf 'nutritional or metabolic disease' http://www.orpha.net/ORDO/Orphanet_141269 Lateral facial cleft 'Lateral facial cleft' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_155896 Otomandibular dysplasia 'Otomandibular dysplasia' SubClassOf 'hereditary connective tissue disorder' http://purl.obolibrary.org/obo/MONDO_0021192 odontogenic neoplasm 'odontogenic neoplasm' SubClassOf 'mouth neoplasm' 'odontogenic neoplasm' SubClassOf 'digestive system neoplasm' http://purl.obolibrary.org/obo/MONDO_0060761 neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum 'neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum' SubClassOf 'genetic disorder' 'neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700092 'neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum' SubClassOf 'Rare genetic neurological disorder' http://purl.obolibrary.org/obo/MONDO_0060596 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 'neurodevelopmental disorder with dysmorphic facies and distal limb anomalies' SubClassOf 'genetic disorder' 'neurodevelopmental disorder with dysmorphic facies and distal limb anomalies' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700092 'neurodevelopmental disorder with dysmorphic facies and distal limb anomalies' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_50811 Lipodystrophy - intellectual disability - deafness 'Lipodystrophy - intellectual disability - deafness' SubClassOf 'Primary bone dysplasia with defective bone mineralization' 'Lipodystrophy - intellectual disability - deafness' SubClassOf 'Primary bone dysplasia with defective bone mineralization' http://purl.obolibrary.org/obo/MONDO_0060577 neurodevelopmental disorder with microcephaly, ataxia, and seizures 'neurodevelopmental disorder with microcephaly, ataxia, and seizures' SubClassOf 'genetic disorder' 'neurodevelopmental disorder with microcephaly, ataxia, and seizures' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700092 'neurodevelopmental disorder with microcephaly, ataxia, and seizures' SubClassOf 'Rare genetic neurological disorder' http://purl.obolibrary.org/obo/MONDO_0060578 neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures 'neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures' SubClassOf 'genetic disorder' 'neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700092 'neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures' SubClassOf 'Rare genetic neurological disorder' http://www.ebi.ac.uk/efo/EFO_0000717 systemic scleroderma 'systemic scleroderma' SubClassOf 'autoimmune disease with skin involvement' 'systemic scleroderma' SubClassOf 'genetic skin disease' 'systemic scleroderma' SubClassOf 'systemic autoimmune disease' http://www.ebi.ac.uk/efo/EFO_0000702 small cell lung carcinoma 'small cell lung carcinoma' SubClassOf 'bronchopulmonary tumor' 'small cell lung carcinoma' SubClassOf 'Genetic endocrine tumor' http://www.orpha.net/ORDO/Orphanet_98810 Paroxysmal non-kinesigenic dyskinesia 'Paroxysmal non-kinesigenic dyskinesia' SubClassOf 'Paroxysmal dyskinesia' 'Paroxysmal non-kinesigenic dyskinesia' SubClassOf 'Paroxysmal dyskinesia' http://www.ebi.ac.uk/efo/EFO_0000707 squamous cell carcinoma 'squamous cell carcinoma' SubClassOf 'keratinocyte carcinoma' http://www.orpha.net/ORDO/Orphanet_86820 Familial avascular necrosis of femoral head 'Familial avascular necrosis of femoral head' SubClassOf 'Type 2 collagen-related bone disorder' 'Familial avascular necrosis of femoral head' SubClassOf 'Type 2 collagen-related bone disorder' 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://www.orpha.net/ORDO/Orphanet_307052 Rare genetic parkinsonian disorder 'Rare genetic parkinsonian disorder' SubClassOf 'Rare genetic tremor disorder' 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.orpha.net/ORDO/Orphanet_307058 Miscellaneous movement disorder due to genetic neurodegenerative disease 'Miscellaneous movement disorder due to genetic neurodegenerative disease' SubClassOf 'Rare genetic tremor disorder' http://www.orpha.net/ORDO/Orphanet_307064 Rare genetic myoclonus 'Rare genetic myoclonus' SubClassOf 'Rare genetic tremor disorder' http://www.orpha.net/ORDO/Orphanet_307061 Rare genetic tremor disorder 'Rare genetic tremor disorder' SubClassOf 'Rare genetic neurological disorder' 'Rare genetic tremor disorder' EquivalentTo 'movement disorder' and ('has modifier' some 'inherited') 'Rare genetic tremor disorder' SubClassOf 'movement disorder' 'Rare genetic tremor disorder' SubClassOf 'Rare genetic movement disorder' http://www.ebi.ac.uk/efo/EFO_0000779 Drosophila C virus infection 'Drosophila C virus infection' SubClassOf 'viral disease' 'Drosophila C virus infection' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100329 http://www.orpha.net/ORDO/Orphanet_96201 X small rings 'X small rings' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700091 http://www.ebi.ac.uk/efo/EFO_0000763 viral disease 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_0009116 vitamin supplement exposure measurement 'vitamin supplement exposure measurement' SubClassOf 'environmental exposure measurement' 'vitamin supplement exposure measurement' SubClassOf http://ebi.ac.uk/efo/EFO_0600066 http://www.ebi.ac.uk/efo/EFO_0009118 female reproductive endometrioid cancer 'female reproductive endometrioid cancer' SubClassOf 'urogenital neoplasm' 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://www.orpha.net/ORDO/Orphanet_3378 Trisomy 13 'Trisomy 13' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700065 http://www.orpha.net/ORDO/Orphanet_3380 Trisomy 18 'Trisomy 18' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700065 http://www.ebi.ac.uk/efo/EFO_0009068 dicer1 syndrome 'dicer1 syndrome' SubClassOf 'pulmonary blastoma' 'dicer1 syndrome' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/MONDO_0011014 'dicer1 syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0009069 hepatic methionine adenosyltransferase deficiency 'hepatic methionine adenosyltransferase deficiency' SubClassOf 'nutritional or metabolic disease' http://www.ebi.ac.uk/efo/EFO_0009073 methylmalonic aciduria (cobalamin deficiency) cblA type 'methylmalonic aciduria (cobalamin deficiency) cblA type' SubClassOf 'nutritional or metabolic disease' http://www.orpha.net/ORDO/Orphanet_3454 Intellectual disability-developmental delay-contractures syndrome 'Intellectual disability-developmental delay-contractures syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700092 http://www.orpha.net/ORDO/Orphanet_238583 Hyperphenylalaninemia 'Hyperphenylalaninemia' SubClassOf 'disease shares features of' some 'Phenylketonuria' 'Hyperphenylalaninemia' SubClassOf 'disease shares features of' some 'Phenylketonuria' http://www.orpha.net/ORDO/Orphanet_3464 Woodhouse-Sakati syndrome 'Woodhouse-Sakati syndrome' SubClassOf 'diabetes mellitus' 'Woodhouse-Sakati syndrome' SubClassOf 'diabetes mellitus' http://www.orpha.net/ORDO/Orphanet_3474 CHIME syndrome 'CHIME syndrome' SubClassOf 'Congenital disorder of glycosylation with developmental anomaly' 'CHIME syndrome' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'CHIME syndrome' SubClassOf 'Congenital disorder of glycosylation with developmental anomaly' 'CHIME syndrome' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' http://www.orpha.net/ORDO/Orphanet_263501 COG4-CDG 'COG4-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'COG4-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 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://www.orpha.net/ORDO/Orphanet_3416 Hyperostosis corticalis generalisata 'Hyperostosis corticalis generalisata' SubClassOf 'Primary bone dysplasia with increased bone density' 'Hyperostosis corticalis generalisata' SubClassOf 'Primary bone dysplasia with increased bone density' http://www.orpha.net/ORDO/Orphanet_3408 Upington disease 'Upington disease' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Upington disease' SubClassOf 'genetic disorder' 'Upington disease' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Upington disease' SubClassOf 'musculoskeletal system disease' http://www.orpha.net/ORDO/Orphanet_96263 48,XXXY syndrome '48,XXXY syndrome' SubClassOf 'tetrasomy' http://www.orpha.net/ORDO/Orphanet_96264 49,XXXXY syndrome '49,XXXXY syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700085 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_0060622 neurodevelopmental disorder with severe motor impairment and absent language 'neurodevelopmental disorder with severe motor impairment and absent language' SubClassOf 'genetic disorder' 'neurodevelopmental disorder with severe motor impairment and absent language' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700092 'neurodevelopmental disorder with severe motor impairment and absent language' SubClassOf 'Rare genetic neurological disorder' http://purl.obolibrary.org/obo/MONDO_0060624 neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 'neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter' SubClassOf 'genetic disorder' 'neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter' SubClassOf 'Rare genetic neurological disorder' 'neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700092 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://www.orpha.net/ORDO/Orphanet_180766 Malformative syndrome with dentinogenesis imperfecta 'Malformative syndrome with dentinogenesis imperfecta' SubClassOf 'Rare genetic odontologic disease' 'Malformative syndrome with dentinogenesis imperfecta' SubClassOf 'Rare genetic odontologic disease' http://purl.obolibrary.org/obo/MONDO_0021064 jugulotympanic paraganglioma 'jugulotympanic paraganglioma' SubClassOf 'genetic vascular tumor' http://purl.obolibrary.org/obo/MONDO_0021065 pleural neoplasm 'pleural neoplasm' SubClassOf 'respiratory tract neoplasm' 'pleural neoplasm' SubClassOf 'respiratory system neoplasm' http://www.orpha.net/ORDO/Orphanet_167759 Hereditary dentin defect 'Hereditary dentin defect' SubClassOf 'Rare genetic odontologic disease' 'Hereditary dentin defect' SubClassOf 'tooth disease' http://purl.obolibrary.org/obo/MONDO_0021053 carotid body paraganglioma 'carotid body paraganglioma' SubClassOf 'genetic vascular tumor' 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://purl.obolibrary.org/obo/MONDO_0060664 neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities 'neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities' SubClassOf 'genetic disorder' 'neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities' SubClassOf 'Rare genetic neurological disorder' 'neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700092 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_0045012 steroid metabolism disease 'steroid metabolism disease' SubClassOf 'nutritional or metabolic disease' http://www.orpha.net/ORDO/Orphanet_238517 Hypotonia - cystinuria type 1 'Hypotonia - cystinuria type 1' SubClassOf 'Partial deletion of the short arm of chromosome 2' 'Hypotonia - cystinuria type 1' SubClassOf 'Partial deletion of the long arm of chromosome 2' 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/MONDO_0045022 disorder of organic acid metabolism 'disorder of organic acid metabolism' SubClassOf 'nutritional or metabolic disease' http://purl.obolibrary.org/obo/MONDO_0060640 neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy 'neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy' SubClassOf 'genetic disorder' 'neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy' SubClassOf 'Rare genetic neurological disorder' 'neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700092 http://purl.obolibrary.org/obo/MONDO_0060641 neurodevelopmental disorder with or without seizures and gait abnormalities 'neurodevelopmental disorder with or without seizures and gait abnormalities' SubClassOf 'genetic disorder' 'neurodevelopmental disorder with or without seizures and gait abnormalities' SubClassOf 'Rare genetic neurological disorder' 'neurodevelopmental disorder with or without seizures and gait abnormalities' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700092 http://purl.obolibrary.org/obo/MONDO_0060642 neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features 'neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features' SubClassOf 'genetic disorder' 'neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features' SubClassOf 'Rare genetic neurological disorder' 'neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700092 http://www.orpha.net/ORDO/Orphanet_238523 Atypical hypotonia - cystinuria syndrome 'Atypical hypotonia - cystinuria syndrome' SubClassOf 'Hypotonia - cystinuria syndrome' 'Atypical hypotonia - cystinuria syndrome' SubClassOf '2p21 microdeletion syndrome' 'Atypical hypotonia - cystinuria syndrome' SubClassOf 'Homozygous 2p21 microdeletion syndrome' 'Atypical hypotonia - cystinuria syndrome' SubClassOf 'Hypotonia - cystinuria type 1' http://www.ebi.ac.uk/efo/EFO_0009406 glucose metabolism disease 'glucose metabolism disease' SubClassOf 'nutritional or metabolic disease' 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_0009441 Waldenstrom macroglobulinemia 'Waldenstrom macroglobulinemia' SubClassOf 'B-cell non-Hodgkins lymphoma' 'Waldenstrom macroglobulinemia' SubClassOf 'Inborn errors of metabolism' 'Waldenstrom macroglobulinemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000432 'Waldenstrom macroglobulinemia' SubClassOf 'hematological disease associated with an acquired peripheral neuropathy' 'Waldenstrom macroglobulinemia' SubClassOf 'indolent B-cell non-Hodgkin lymphoma' http://purl.obolibrary.org/obo/MONDO_0060490 neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies 'neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies' SubClassOf 'genetic disorder' 'neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700092 'neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies' SubClassOf 'Rare genetic neurological disorder' http://purl.obolibrary.org/obo/MONDO_0060491 neurodevelopmental disorder with involuntary movements 'neurodevelopmental disorder with involuntary movements' SubClassOf 'genetic disorder' 'neurodevelopmental disorder with involuntary movements' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700092 'neurodevelopmental disorder with involuntary movements' SubClassOf 'Rare genetic neurological disorder' 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://www.orpha.net/ORDO/Orphanet_1062 Hereditary neurocutaneous angioma 'Hereditary neurocutaneous angioma' SubClassOf 'genetic vascular tumor' 'Hereditary neurocutaneous angioma' SubClassOf 'vascular neoplasm' http://www.orpha.net/ORDO/Orphanet_1063 Tufted angioma 'Tufted angioma' SubClassOf 'genetic vascular tumor' 'Tufted angioma' SubClassOf 'Genetic skin tumor' 'Tufted angioma' SubClassOf 'Genetic vascular anomaly' 'Tufted angioma' SubClassOf 'genetic skin disease' 'Tufted angioma' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/UBERON_0000056 ureter 'ureter' SubClassOf 'part of' some 'upper urinary tract' http://www.orpha.net/ORDO/Orphanet_1077 Dental ankylosis 'Dental ankylosis' SubClassOf 'Rare genetic odontologic disease' 'Dental ankylosis' SubClassOf 'genetic disorder' 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_261222 Distal 16p11.2 microdeletion syndrome 'Distal 16p11.2 microdeletion syndrome' SubClassOf 'syndrome caused by partial chromosomal deletion' 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://www.orpha.net/ORDO/Orphanet_261265 17q12 microdeletion syndrome '17q12 microdeletion syndrome' SubClassOf 'syndrome caused by partial chromosomal deletion' http://www.orpha.net/ORDO/Orphanet_1133 AREDYLD syndrome 'AREDYLD syndrome' SubClassOf 'diabetes mellitus' 'AREDYLD syndrome' SubClassOf 'diabetes mellitus' http://purl.obolibrary.org/obo/MONDO_0011577 myopathy, proximal, and ophthalmoplegia 'myopathy, proximal, and ophthalmoplegia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0060502 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies 'neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies' SubClassOf 'Rare genetic neurological disorder' 'neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies' SubClassOf 'congenital nervous system disorder' 'neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700092 http://purl.obolibrary.org/obo/MONDO_0011581 arrhythmogenic cardiomyopathy with woolly hair and keratoderma 'arrhythmogenic cardiomyopathy with woolly hair and keratoderma' SubClassOf 'Focal palmoplantar keratoderma' 'arrhythmogenic cardiomyopathy with woolly hair and keratoderma' SubClassOf 'Syndrome associated with dilated cardiomyopathy' 'arrhythmogenic cardiomyopathy with woolly hair and keratoderma' SubClassOf 'syndrome with woolly hair' 'arrhythmogenic cardiomyopathy with woolly hair and keratoderma' SubClassOf 'syndrome with woolly hair' http://www.orpha.net/ORDO/Orphanet_189439 Primary pigmented nodular adrenocortical disease 'Primary pigmented nodular adrenocortical disease' SubClassOf 'ACTH-independent Cushing syndrome' 'Primary pigmented nodular adrenocortical disease' SubClassOf 'adrenal gland disease' http://purl.obolibrary.org/obo/MONDO_0060556 joint laxity, short stature, and myopia 'joint laxity, short stature, and myopia' SubClassOf 'Primary bone dysplasia with multiple joint dislocations' http://www.ebi.ac.uk/efo/EFO_0600007 fish oil supplement exposure measurement 'fish oil supplement exposure measurement' SubClassOf 'environmental exposure measurement' 'fish oil supplement exposure measurement' SubClassOf http://ebi.ac.uk/efo/EFO_0600066 http://www.ebi.ac.uk/efo/EFO_0009300 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 'neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700092 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 'part of' some 'embryo' http://purl.obolibrary.org/obo/UBERON_0002533 post-anal tail bud 'post-anal tail bud' SubClassOf 'anatomical structure' 'post-anal tail bud' SubClassOf 'part of' some 'embryo' http://www.orpha.net/ORDO/Orphanet_261190 15q14 microdeletion syndrome '15q14 microdeletion syndrome' SubClassOf 'syndrome caused by partial chromosomal deletion' http://www.orpha.net/ORDO/Orphanet_261197 Proximal 16p11.2 microdeletion syndrome 'Proximal 16p11.2 microdeletion syndrome' SubClassOf 'syndrome caused by partial chromosomal deletion' http://www.orpha.net/ORDO/Orphanet_261183 15q11.2 microdeletion syndrome '15q11.2 microdeletion syndrome' SubClassOf 'syndrome caused by partial chromosomal deletion' http://www.ebi.ac.uk/efo/EFO_0009361 colorectal mucinous adenocarcinoma 'colorectal mucinous adenocarcinoma' SubClassOf 'colonic neoplasm' http://www.ebi.ac.uk/efo/EFO_0009383 tumoral calcinosis, hyperphosphatemic, familial, 2 'tumoral calcinosis, hyperphosphatemic, familial, 2' SubClassOf 'familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome' 'tumoral calcinosis, hyperphosphatemic, familial, 2' SubClassOf 'familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome' http://www.ebi.ac.uk/efo/EFO_0009384 tumoral calcinosis, hyperphosphatemic, familial, 3 'tumoral calcinosis, hyperphosphatemic, familial, 3' SubClassOf 'familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome' 'tumoral calcinosis, hyperphosphatemic, familial, 3' SubClassOf 'familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome' http://www.orpha.net/ORDO/Orphanet_261112 Monosomy 9p 'Monosomy 9p' SubClassOf 'syndrome caused by partial chromosomal deletion' http://www.orpha.net/ORDO/Orphanet_275729 Rare hemorrhagic disorder due to a constitutional thrombocytopenia 'Rare hemorrhagic disorder due to a constitutional thrombocytopenia' SubClassOf 'hemorrhagic disorder due to a platelet anomaly' 'Rare hemorrhagic disorder due to a constitutional thrombocytopenia' SubClassOf 'Rare genetic coagulation disorder' 'Rare hemorrhagic disorder due to a constitutional thrombocytopenia' SubClassOf 'inherited bleeding disorder, platelet-type' 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_1001 2q37 microdeletion syndrome '2q37 microdeletion syndrome' SubClassOf 'congenital nervous system disorder' '2q37 microdeletion syndrome' SubClassOf 'Rare genetic neurological disorder' '2q37 microdeletion syndrome' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_275777 Heritable pulmonary arterial hypertension 'Heritable pulmonary arterial hypertension' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700007 http://purl.obolibrary.org/obo/MONDO_0011431 MASS syndrome 'MASS syndrome' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'MASS syndrome' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_238722 Familial congenital mirror movements 'Familial congenital mirror movements' SubClassOf 'Rare genetic tremor disorder' 'Familial congenital mirror movements' SubClassOf 'movement disorder' http://www.orpha.net/ORDO/Orphanet_263726 Partial deletion of chromosome X 'Partial deletion of chromosome X' SubClassOf 'syndrome caused by partial chromosomal deletion' http://www.orpha.net/ORDO/Orphanet_238750 4q21 microdeletion syndrome '4q21 microdeletion syndrome' SubClassOf 'syndrome caused by partial chromosomal deletion' http://purl.obolibrary.org/obo/MONDO_0018729 genetic vascular tumor 'genetic vascular tumor' EquivalentTo 'vascular neoplasm' and ('has modifier' some 'inherited') 'genetic vascular tumor' SubClassOf 'Genetic vascular anomaly' 'genetic vascular tumor' SubClassOf 'vascular neoplasm' http://www.orpha.net/ORDO/Orphanet_280633 Multiple congenital anomalies - hypotonia - seizures syndrome 'Multiple congenital anomalies - hypotonia - seizures syndrome' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'Multiple congenital anomalies - hypotonia - seizures syndrome' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 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://purl.obolibrary.org/obo/MONDO_0016104 infectious disease with peripheral neuropathy 'infectious disease with peripheral neuropathy' SubClassOf 'acquired peripheral neuropathy' http://www.orpha.net/ORDO/Orphanet_72 Angelman syndrome 'Angelman syndrome' SubClassOf 'epilepsy' 'Angelman syndrome' SubClassOf 'epilepsy' http://www.orpha.net/ORDO/Orphanet_73 Gorham-Stout disease 'Gorham-Stout disease' SubClassOf 'genetic vascular tumor' 'Gorham-Stout disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003157 'Gorham-Stout disease' SubClassOf 'hereditary connective tissue disorder' 'Gorham-Stout disease' SubClassOf 'Genetic vascular anomaly' http://www.orpha.net/ORDO/Orphanet_228000 Idiopathic CD4 lymphocytopenia 'Idiopathic CD4 lymphocytopenia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700007 http://www.orpha.net/ORDO/Orphanet_87 Apert syndrome 'Apert syndrome' SubClassOf 'Pierre Robin syndrome associated with bone disease' 'Apert syndrome' SubClassOf 'Pierre Robin syndrome associated with bone disease' http://www.orpha.net/ORDO/Orphanet_314585 15q overgrowth syndrome '15q overgrowth syndrome' SubClassOf 'syndromic intellectual disability' '15q overgrowth syndrome' SubClassOf 'congenital nervous system disorder' '15q overgrowth syndrome' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_50 Aicardi syndrome 'Aicardi syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700092 http://www.orpha.net/ORDO/Orphanet_51 Aicardi-Goutières syndrome 'Aicardi-Goutières syndrome' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_53 Albers-Schönberg osteopetrosis 'Albers-Schönberg osteopetrosis' SubClassOf 'Unclassified primitive or secondary maculopathy' 'Albers-Schönberg osteopetrosis' SubClassOf 'Optic neuropathy' 'Albers-Schönberg osteopetrosis' SubClassOf 'Unclassified primitive or secondary maculopathy' http://purl.obolibrary.org/obo/MONDO_0018782 type 1 interferonopathy 'type 1 interferonopathy' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'type 1 interferonopathy' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_228012 Progressive sensorineural hearing loss - hypertrophic cardiomyopathy 'Progressive sensorineural hearing loss - hypertrophic cardiomyopathy' SubClassOf 'Syndrome associated with hypertrophic cardiomyopathy' 'Progressive sensorineural hearing loss - hypertrophic cardiomyopathy' SubClassOf 'Syndrome associated with hypertrophic cardiomyopathy' 'Progressive sensorineural hearing loss - hypertrophic cardiomyopathy' SubClassOf 'familial hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0018795 syndromic constitutional thrombocytopenia 'syndromic constitutional thrombocytopenia' SubClassOf 'Rare hemorrhagic disorder due to a constitutional thrombocytopenia' http://purl.obolibrary.org/obo/MONDO_0018794 cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder 'cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder' SubClassOf 'hemorrhagic disorder due to a platelet anomaly' http://purl.obolibrary.org/obo/MONDO_0018796 isolated constitutional thrombocytopenia 'isolated constitutional thrombocytopenia' SubClassOf 'Rare hemorrhagic disorder due to a constitutional thrombocytopenia' http://www.orpha.net/ORDO/Orphanet_63 Alport syndrome 'Alport syndrome' SubClassOf 'glomerulonephritis (disease)' 'Alport syndrome' SubClassOf 'hereditary nephritis' 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://www.orpha.net/ORDO/Orphanet_15 Achondroplasia 'Achondroplasia' SubClassOf 'Primary bone dysplasia with micromelia' 'Achondroplasia' SubClassOf 'hereditary connective tissue disorder' 'Achondroplasia' SubClassOf 'Primary bone dysplasia with micromelia' http://purl.obolibrary.org/obo/MONDO_0016167 optic pathway glioma 'optic pathway glioma' SubClassOf 'urogenital neoplasm' http://www.orpha.net/ORDO/Orphanet_11 Pentasomy X 'Pentasomy X' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700085 http://www.orpha.net/ORDO/Orphanet_26 Methylmalonic acidemia with homocystinuria 'Methylmalonic acidemia with homocystinuria' SubClassOf 'methylmalonic acidemia' 'Methylmalonic acidemia with homocystinuria' SubClassOf 'homocystinuria (disease)' 'Methylmalonic acidemia with homocystinuria' SubClassOf 'methylmalonic acidemia' 'Methylmalonic acidemia with homocystinuria' SubClassOf 'homocystinuria (disease)' 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://purl.obolibrary.org/obo/MONDO_0016177 systemic inflammatory disease associated with an acquired peripheral neuropathy 'systemic inflammatory disease associated with an acquired peripheral neuropathy' SubClassOf 'acquired peripheral neuropathy' http://www.ebi.ac.uk/efo/EFO_0002113 BDCM 'BDCM' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0004777 alcohol withdrawal 'alcohol withdrawal' SubClassOf 'drug dependence' 'alcohol withdrawal' SubClassOf 'drug dependence' 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://www.ebi.ac.uk/efo/EFO_0002194 HH 'HH' SubClassOf 'cancer cell line' http://www.orpha.net/ORDO/Orphanet_280586 Chondrodysplasia with joint dislocations, gPAPP type 'Chondrodysplasia with joint dislocations, gPAPP type' SubClassOf 'Primary bone dysplasia with multiple joint dislocations' 'Chondrodysplasia with joint dislocations, gPAPP type' SubClassOf 'Primary bone dysplasia with multiple joint dislocations' 'Chondrodysplasia with joint dislocations, gPAPP type' SubClassOf 'musculoskeletal system disease' 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_79430 Hermansky-Pudlak syndrome 'Hermansky-Pudlak syndrome' SubClassOf 'Rare genetic coagulation disorder' http://www.orpha.net/ORDO/Orphanet_314652 Autosomal dominant beta2-microglobulinic amyloidosis 'Autosomal dominant beta2-microglobulinic amyloidosis' SubClassOf 'Rare genetic systemic or rheumatologic disease' 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_0018627 ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor 'ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor' SubClassOf 'ACTH-independent Cushing syndrome' 'ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor' EquivalentTo 'ACTH-independent Cushing syndrome' and ('disease arises from feature' some 'Cortisol-Producing Adrenal Cortex Adenoma') 'ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor' SubClassOf 'disease arises from feature' some 'Cortisol-Producing Adrenal Cortex Adenoma' http://purl.obolibrary.org/obo/MONDO_0018634 hereditary amyloidosis 'hereditary amyloidosis' SubClassOf 'Rare genetic systemic or rheumatologic disease' http://www.orpha.net/ORDO/Orphanet_182050 MYH9-related disease 'MYH9-related disease' SubClassOf 'inherited bleeding disorder, platelet-type' 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_0018681 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome 'neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700092 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://www.orpha.net/ORDO/Orphanet_314667 TMEM165-CDG 'TMEM165-CDG' SubClassOf 'Primary bone dysplasia with decreased bone density' 'TMEM165-CDG' SubClassOf 'Primary bone dysplasia with decreased bone density' http://www.ebi.ac.uk/efo/EFO_0004707 infantile hypertrophic pyloric stenosis 'infantile hypertrophic pyloric stenosis' SubClassOf 'pyloric stenosis' 'infantile hypertrophic pyloric stenosis' SubClassOf 'pyloric stenosis' http://purl.obolibrary.org/obo/HP_0002571 Achalasia 'Achalasia' SubClassOf 'Abnormality of esophagus physiology' http://purl.obolibrary.org/obo/MONDO_0016064 cleft palate 'cleft palate' SubClassOf 'hereditary connective tissue disorder' 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_91 Aromatase deficiency 'Aromatase deficiency' SubClassOf 'female infertility' 'Aromatase deficiency' SubClassOf 'male infertility' 'Aromatase deficiency' SubClassOf 'female infertility' 'Aromatase deficiency' SubClassOf 'male infertility' 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.orpha.net/ORDO/Orphanet_363654 X-linked parkinsonism-spasticity syndrome 'X-linked parkinsonism-spasticity syndrome' SubClassOf 'parkinsonian syndrome due to neurodegenerative disease' 'X-linked parkinsonism-spasticity syndrome' SubClassOf 'parkinsonian syndrome due to neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_363659 20q11.2 microduplication syndrome '20q11.2 microduplication syndrome' SubClassOf 'syndromic intellectual disability' '20q11.2 microduplication syndrome' SubClassOf 'congenital nervous system disorder' 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.orpha.net/ORDO/Orphanet_363680 2p13.2 microdeletion syndrome '2p13.2 microdeletion syndrome' SubClassOf 'syndromic intellectual disability' '2p13.2 microdeletion syndrome' SubClassOf 'congenital nervous system disorder' 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.orpha.net/ORDO/Orphanet_79327 ALG1-CDG 'ALG1-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'ALG1-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' http://www.orpha.net/ORDO/Orphanet_79326 ALG2-CDG 'ALG2-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'ALG2-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' http://www.orpha.net/ORDO/Orphanet_79323 MPDU1-CDG 'MPDU1-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'MPDU1-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' http://www.orpha.net/ORDO/Orphanet_79321 ALG3-CDG 'ALG3-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'ALG3-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 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://www.orpha.net/ORDO/Orphanet_79318 PMM2-CDG 'PMM2-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'PMM2-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' http://purl.obolibrary.org/obo/UBERON_0000451 prefrontal cortex '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_0004996 type 1 diabetes nephropathy 'type 1 diabetes nephropathy' SubClassOf 'diabetic nephropathy' 'type 1 diabetes nephropathy' SubClassOf 'disease arises from feature' some 'type I diabetes mellitus' 'type 1 diabetes nephropathy' SubClassOf 'type II hypersensitivity reaction disease' 'type 1 diabetes nephropathy' EquivalentTo 'diabetic nephropathy' and ('disease arises from feature' some 'type I diabetes mellitus') 'type 1 diabetes nephropathy' SubClassOf 'diabetic nephropathy' 'type 1 diabetes nephropathy' SubClassOf 'hypersensitivity reaction disease' http://www.ebi.ac.uk/efo/EFO_0004997 type 2 diabetes nephropathy 'type 2 diabetes nephropathy' SubClassOf 'disease arises from feature' some 'type II diabetes mellitus' 'type 2 diabetes nephropathy' SubClassOf 'diabetic nephropathy' 'type 2 diabetes nephropathy' EquivalentTo 'diabetic nephropathy' and ('disease arises from feature' some 'type II diabetes mellitus') 'type 2 diabetes nephropathy' SubClassOf 'diabetic nephropathy' http://www.ebi.ac.uk/efo/EFO_1000800 alcohol withdrawal delirium 'alcohol withdrawal delirium' SubClassOf 'alcohol dependence' 'alcohol withdrawal delirium' SubClassOf 'alcohol-related disorders' 'alcohol withdrawal delirium' SubClassOf 'alcohol-induced mental disorder' 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://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://www.orpha.net/ORDO/Orphanet_228169 Autosomal dominant striatal neurodegeneration 'Autosomal dominant striatal neurodegeneration' SubClassOf 'parkinsonian syndrome due to neurodegenerative disease' 'Autosomal dominant striatal neurodegeneration' SubClassOf 'parkinsonian syndrome due to neurodegenerative disease' 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_1000902 drug psychosis 'drug psychosis' SubClassOf 'psychosis' 'drug psychosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004630 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_0004895 Tourette syndrome 'Tourette syndrome' SubClassOf 'Rare genetic tremor disorder' 'Tourette syndrome' SubClassOf 'Rare genetic movement disorder' 'Tourette syndrome' SubClassOf 'Rare genetic neurological disorder' 'Tourette syndrome' SubClassOf 'movement disorder' 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_1000969 hyperamylasemia 'hyperamylasemia' SubClassOf 'nutritional or metabolic disease' http://purl.obolibrary.org/obo/MONDO_0043479 adenoviridae infectious disease 'adenoviridae infectious disease' SubClassOf 'viral disease' 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 '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.orpha.net/ORDO/Orphanet_289098 Disorders of vitamin D metabolism 'Disorders of vitamin D metabolism' SubClassOf 'endocrine system disease' 'Disorders of vitamin D metabolism' SubClassOf 'vitamin metabolic disorder' 'Disorders of vitamin D metabolism' SubClassOf 'Primary bone dysplasia with defective bone mineralization' 'Disorders of vitamin D metabolism' SubClassOf 'endocrine system disease' 'Disorders of vitamin D metabolism' SubClassOf 'vitamin metabolic disorder' 'Disorders of vitamin D metabolism' SubClassOf 'Primary bone dysplasia with defective bone mineralization' 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 'anatomical entity' 'septum of telencephalon' SubClassOf 'anatomical structure' http://www.orpha.net/ORDO/Orphanet_1711 Mosaic trisomy 17 'Mosaic trisomy 17' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700065 '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 'Mosaic trisomy 16' SubClassOf http://purl.obolibrary.org/obo/MONDO_0022180 http://www.orpha.net/ORDO/Orphanet_300373 Familial infantile gigantism 'Familial infantile gigantism' SubClassOf 'endocrine system disease' 'Familial infantile gigantism' SubClassOf 'endocrine system disease' http://www.orpha.net/ORDO/Orphanet_1706 Mosaic trisomy 15 'Mosaic trisomy 15' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0700062 'Mosaic trisomy 15' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700065 http://www.orpha.net/ORDO/Orphanet_1703 Mosaic trisomy 14 'Mosaic trisomy 14' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0700062 'Mosaic trisomy 14' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700065 http://www.orpha.net/ORDO/Orphanet_1723 Mosaic trisomy 2 'Mosaic trisomy 2' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0700062 'Mosaic trisomy 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700065 http://www.orpha.net/ORDO/Orphanet_1724 Mosaic trisomy 20 'Mosaic trisomy 20' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0700062 'Mosaic trisomy 20' SubClassOf http://purl.obolibrary.org/obo/MONDO_0022757 http://www.orpha.net/ORDO/Orphanet_300345 Autosomal recessive systemic lupus erythematosus 'Autosomal recessive systemic lupus erythematosus' SubClassOf 'Rare genetic systemic or rheumatologic disease' http://www.orpha.net/ORDO/Orphanet_300359 PLCG2-associated antibody deficiency and immune dysregulation 'PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_363992 Ichthyosis-short stature-brachydactyly-microspherophakia syndrome 'Ichthyosis-short stature-brachydactyly-microspherophakia syndrome' SubClassOf 'Autosomal ichthyosis syndrome with other associated signs' 'Ichthyosis-short stature-brachydactyly-microspherophakia syndrome' SubClassOf 'Autosomal ichthyosis syndrome with other associated signs' http://www.orpha.net/ORDO/Orphanet_300305 11p15.4 microduplication syndrome '11p15.4 microduplication syndrome' SubClassOf 'congenital nervous system disorder' '11p15.4 microduplication syndrome' SubClassOf 'Rare genetic neurological disorder' '11p15.4 microduplication syndrome' SubClassOf 'syndromic intellectual disability' 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_1000639 acquired metabolic disease 'acquired metabolic disease' SubClassOf 'nutritional or metabolic disease' http://www.ebi.ac.uk/efo/EFO_1000642 hemochromatosis 'hemochromatosis' SubClassOf 'nutritional or metabolic disease' http://www.ebi.ac.uk/efo/EFO_0002617 metastatic melanoma 'metastatic melanoma' SubClassOf 'metastatic neoplasm' http://www.ebi.ac.uk/efo/EFO_1000648 developmental dysplasia of the hip 'developmental dysplasia of the hip' SubClassOf 'hereditary connective tissue disorder' 'developmental dysplasia of the hip' SubClassOf 'genetic disorder' 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.ebi.ac.uk/efo/EFO_0002622 rotavirus infection 'rotavirus infection' SubClassOf 'digestive system infectious disease' 'rotavirus infection' SubClassOf 'digestive system disease' http://www.orpha.net/ORDO/Orphanet_324364 Mixed sclerosing bone dystrophy with extra-skeletal manifestations 'Mixed sclerosing bone dystrophy with extra-skeletal manifestations' SubClassOf 'Primary bone dysplasia with increased bone density' 'Mixed sclerosing bone dystrophy with extra-skeletal manifestations' SubClassOf 'Primary bone dysplasia with increased bone density' 'Mixed sclerosing bone dystrophy with extra-skeletal manifestations' SubClassOf 'bone disease' http://www.orpha.net/ORDO/Orphanet_300382 Progeroid and marfanoid aspect-lipodystrophy syndrome 'Progeroid and marfanoid aspect-lipodystrophy syndrome' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Progeroid and marfanoid aspect-lipodystrophy syndrome' SubClassOf 'systemic disease' 'Progeroid and marfanoid aspect-lipodystrophy syndrome' SubClassOf 'hereditary connective tissue disorder' 'Progeroid and marfanoid aspect-lipodystrophy syndrome' SubClassOf 'Rare genetic systemic or rheumatologic disease' http://www.ebi.ac.uk/efo/EFO_1000693 erythema infectiosum 'erythema infectiosum' SubClassOf 'viral disease' http://www.orpha.net/ORDO/Orphanet_228402 2q23.1 microdeletion syndrome '2q23.1 microdeletion syndrome' SubClassOf 'syndromic intellectual disability' '2q23.1 microdeletion syndrome' SubClassOf 'epilepsy' '2q23.1 microdeletion syndrome' SubClassOf 'Rare genetic neurological disorder' '2q23.1 microdeletion syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '2q23.1 microdeletion syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_228426 Syndromic multisystem autoimmune disease due to Itch deficiency 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf 'autoimmune enteropathy' 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf 'autoimmune disease of gastrointestinal tract' 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf 'malabsorption syndrome' 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_1798 Dysostosis, Stanescu type 'Dysostosis, Stanescu type' SubClassOf 'Primary bone dysplasia with increased bone density' 'Dysostosis, Stanescu type' SubClassOf 'Primary bone dysplasia with increased bone density' 'Dysostosis, Stanescu type' SubClassOf 'familial osteosclerosis' 'Dysostosis, Stanescu type' SubClassOf 'osteosclerosis' http://www.orpha.net/ORDO/Orphanet_1747 Mosaic trisomy 7 'Mosaic trisomy 7' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700065 '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://www.orpha.net/ORDO/Orphanet_1772 45,X/46,XY mixed gonadal dysgenesis '45,X/46,XY mixed gonadal dysgenesis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0700062 '45,X/46,XY mixed gonadal dysgenesis' SubClassOf 'monosomy' http://www.orpha.net/ORDO/Orphanet_1606 1p36 deletion syndrome '1p36 deletion syndrome' SubClassOf 'epilepsy' '1p36 deletion syndrome' SubClassOf 'Syndrome associated with dilated cardiomyopathy' '1p36 deletion syndrome' SubClassOf 'Rare genetic neurological disorder' '1p36 deletion syndrome' SubClassOf 'syndrome caused by partial chromosomal deletion' '1p36 deletion syndrome' SubClassOf 'congenital nervous system disorder' '1p36 deletion syndrome' SubClassOf 'Syndrome associated with dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome 'camptodactyly-arthropathy-coxa vara-pericarditis syndrome' SubClassOf 'hereditary connective tissue disorder' 'camptodactyly-arthropathy-coxa vara-pericarditis syndrome' SubClassOf 'has modifier' some 'rare' 'camptodactyly-arthropathy-coxa vara-pericarditis syndrome' SubClassOf 'autosomal recessive disease' 'camptodactyly-arthropathy-coxa vara-pericarditis syndrome' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'camptodactyly-arthropathy-coxa vara-pericarditis syndrome' SubClassOf 'rheumatic disease' http://www.ebi.ac.uk/efo/EFO_1000744 occupational dermatitis 'occupational dermatitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100366 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_1000784 microscopic polyangiitis 'microscopic polyangiitis' SubClassOf 'neurovascular 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://www.ebi.ac.uk/efo/EFO_1000727 lipodystrophy 'lipodystrophy' SubClassOf 'nutritional or metabolic disease' http://purl.obolibrary.org/obo/MONDO_0043237 glossodynia 'glossodynia' SubClassOf 'disorder involving pain' 'glossodynia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700057 http://www.ebi.ac.uk/efo/EFO_1000722 Kimura disease 'Kimura disease' SubClassOf 'skin disease' 'Kimura disease' SubClassOf 'systemic disease' 'Kimura disease' SubClassOf 'lymphadenitis (disease)' 'Kimura disease' SubClassOf 'type II hypersensitivity reaction disease' 'Kimura disease' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_1000730 Ludwig's angina 'Ludwig's angina' SubClassOf 'digestive system infectious disease' http://purl.obolibrary.org/obo/MONDO_0043243 leukoplakia 'leukoplakia' SubClassOf 'disease by anatomical system' http://www.orpha.net/ORDO/Orphanet_1667 Wolcott-Rallison syndrome 'Wolcott-Rallison syndrome' SubClassOf 'diabetes mellitus' 'Wolcott-Rallison syndrome' SubClassOf 'diabetes mellitus' 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 http://purl.obolibrary.org/obo/MONDO_0700065 '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 'Mosaic trisomy 12' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700065 http://www.orpha.net/ORDO/Orphanet_1646 Partial chromosome Y deletion 'Partial chromosome Y deletion' SubClassOf 'syndrome caused by partial chromosomal deletion' http://www.orpha.net/ORDO/Orphanet_1642 Distal monosomy 9p 'Distal monosomy 9p' SubClassOf 'Partial deletion of the short arm of chromosome 9' 'Distal monosomy 9p' SubClassOf 'Monosomy 9p' http://www.ebi.ac.uk/efo/EFO_1000464 PEComa 'PEComa' SubClassOf 'Soft Tissue Neoplasm' 'PEComa' SubClassOf 'Soft Tissue Neoplasm' 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_1962 Exostoses - anetodermia - brachydactyly type E 'Exostoses - anetodermia - brachydactyly type E' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Exostoses - anetodermia - brachydactyly type E' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Exostoses - anetodermia - brachydactyly type E' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_1000496 Prolactin-Producing Pituitary Gland Adenoma 'Prolactin-Producing Pituitary Gland Adenoma' SubClassOf 'male infertility' 'Prolactin-Producing Pituitary Gland Adenoma' SubClassOf 'male infertility' http://www.orpha.net/ORDO/Orphanet_1900 Ehlers-Danlos syndrome, kyphoscoliotic type 'Ehlers-Danlos syndrome, kyphoscoliotic type' SubClassOf 'Connective tissue disease with eye involvement' 'Ehlers-Danlos syndrome, kyphoscoliotic type' SubClassOf 'Connective tissue disease with eye involvement' 'Ehlers-Danlos syndrome, kyphoscoliotic type' SubClassOf 'has modifier' some 'rare' 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.orpha.net/ORDO/Orphanet_79159 Isobutyryl-CoA dehydrogenase deficiency 'Isobutyryl-CoA dehydrogenase deficiency' SubClassOf 'Syndrome associated with dilated cardiomyopathy' 'Isobutyryl-CoA dehydrogenase deficiency' SubClassOf 'Syndrome associated with dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0008734 adrenocortical carcinoma, hereditary 'adrenocortical carcinoma, hereditary' SubClassOf 'genetic vascular tumor' 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.orpha.net/ORDO/Orphanet_251004 Paternal uniparental disomy of chromosome 1 'Paternal uniparental disomy of chromosome 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700086 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.orpha.net/ORDO/Orphanet_251009 Maternal uniparental disomy of chromosome 1 'Maternal uniparental disomy of chromosome 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700086 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://purl.obolibrary.org/obo/MONDO_0008771 amelogenesis imperfecta type 1G 'amelogenesis imperfecta type 1G' SubClassOf 'Amelogenesis imperfecta' 'amelogenesis imperfecta type 1G' SubClassOf 'Amelogenesis imperfecta' 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.orpha.net/ORDO/Orphanet_251043 Ring chromosome 5 'Ring chromosome 5' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700091 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_0000221 acute monocytic leukemia 'acute monocytic leukemia' SubClassOf 'acute myeloid leukemia' 'acute monocytic leukemia' SubClassOf 'bilineal acute myeloid leukemia' 'acute monocytic leukemia' SubClassOf 'acute leukemia of ambiguous lineage' 'acute monocytic leukemia' SubClassOf 'acute myeloid leukemia' 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_0000223 acute myelomonocytic leukemia 'acute myelomonocytic leukemia' SubClassOf 'bilineal acute myeloid leukemia' 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_0000224 acute promyelocytic leukemia 'acute promyelocytic leukemia' SubClassOf 'bilineal acute myeloid leukemia' 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_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_0000195 metabolic syndrome 'metabolic syndrome' SubClassOf 'nutritional or metabolic disease' 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 ('head' or ('part of' some 'head'))) '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 '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 'embryo' http://purl.obolibrary.org/obo/UBERON_0000924 ectoderm 'ectoderm' SubClassOf 'part of' some 'embryo' http://purl.obolibrary.org/obo/UBERON_0000927 mesectoderm 'mesectoderm' SubClassOf 'part of' some 'embryo' http://purl.obolibrary.org/obo/UBERON_0000926 mesoderm 'mesoderm' SubClassOf 'part of' some 'embryo' http://purl.obolibrary.org/obo/UBERON_0000976 humerus 'humerus' SubClassOf 'part of' some 'forelimb' 'humerus' SubClassOf 'part of' some 'limb' http://purl.obolibrary.org/obo/UBERON_0000979 tibia 'tibia' SubClassOf 'part of' some 'hindlimb' 'tibia' SubClassOf 'part of' some 'limb' http://purl.obolibrary.org/obo/UBERON_0000977 pleura 'pleura' SubClassOf 'part of' some 'respiratory system' http://www.orpha.net/ORDO/Orphanet_79213 Mucopolysaccharidosis 'Mucopolysaccharidosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100365 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 'limb' 'femur' SubClassOf 'part of' some 'hindlimb' http://www.orpha.net/ORDO/Orphanet_1822 Dysplasia epiphysealis hemimelica 'Dysplasia epiphysealis hemimelica' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Dysplasia epiphysealis hemimelica' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Dysplasia epiphysealis hemimelica' SubClassOf 'Primary bone dysplasia' 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.orpha.net/ORDO/Orphanet_1844 Bone dysplasia, Azouz type 'Bone dysplasia, Azouz type' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Bone dysplasia, Azouz type' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Bone dysplasia, Azouz type' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_289573 Fatal multiple mitochondrial dysfunction syndrome 'Fatal multiple mitochondrial dysfunction syndrome' SubClassOf 'phosphorus metabolism disease' http://www.orpha.net/ORDO/Orphanet_1806 Ectodermal dysplasia - blindness 'Ectodermal dysplasia - blindness' SubClassOf 'Ectodermal malformation syndrome associated with ocular features' 'Ectodermal dysplasia - blindness' SubClassOf 'Ectodermal malformation syndrome associated with ocular features' http://www.orpha.net/ORDO/Orphanet_1802 Ghosal hematodiaphyseal dysplasia 'Ghosal hematodiaphyseal dysplasia' SubClassOf 'Primary bone dysplasia with increased bone density' 'Ghosal hematodiaphyseal dysplasia' SubClassOf 'Primary bone dysplasia with increased bone density' 'Ghosal hematodiaphyseal dysplasia' SubClassOf 'bone disease' 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_1000519 Salivary Gland Small Cell Carcinoma 'Salivary Gland Small Cell Carcinoma' SubClassOf 'digestive system neuroendocrine neoplasm' 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.orpha.net/ORDO/Orphanet_300284 Connective tissue disorder due to lysyl hydroxylase-3 deficiency 'Connective tissue disorder due to lysyl hydroxylase-3 deficiency' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Connective tissue disorder due to lysyl hydroxylase-3 deficiency' SubClassOf 'systemic disease' 'Connective tissue disorder due to lysyl hydroxylase-3 deficiency' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Connective tissue disorder due to lysyl hydroxylase-3 deficiency' SubClassOf 'hereditary connective tissue disorder' http://www.ebi.ac.uk/efo/EFO_1000557 Synovial Chondromatosis 'Synovial Chondromatosis' SubClassOf 'sarcoma' 'Synovial Chondromatosis' SubClassOf 'musculoskeletal system disease' 'Synovial Chondromatosis' SubClassOf 'connective and soft tissue neoplasm' 'Synovial Chondromatosis' SubClassOf 'sarcoma' 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://purl.obolibrary.org/obo/MONDO_0033613 neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities 'neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities' SubClassOf 'genetic disorder' 'neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700092 'neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities' SubClassOf 'Rare genetic neurological disorder' 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://purl.obolibrary.org/obo/MONDO_0021669 post-infectious disorder 'post-infectious disorder' SubClassOf 'disease' 'post-infectious disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100336 http://purl.obolibrary.org/obo/MONDO_0021682 viral sexually transmitted disease 'viral sexually transmitted disease' SubClassOf 'viral disease' 'viral sexually transmitted disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100329 http://www.ebi.ac.uk/efo/EFO_0002690 systemic lupus erythematosus 'systemic lupus erythematosus' SubClassOf 'Rare genetic systemic or rheumatologic disease' http://purl.obolibrary.org/obo/MONDO_0033683 congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome 'congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome' SubClassOf 'hereditary connective tissue disorder' http://purl.obolibrary.org/obo/MONDO_0018093 arbovirus fever 'arbovirus fever' SubClassOf 'has modifier' some 'rare' 'arbovirus fever' SubClassOf 'viral disease' http://purl.obolibrary.org/obo/MONDO_0018087 viral hemorrhagic fever 'viral hemorrhagic fever' SubClassOf 'viral disease' http://www.orpha.net/ORDO/Orphanet_399839 Rare female infertility due to a congenital hypogonadotropic hypogonadism 'Rare female infertility due to a congenital hypogonadotropic hypogonadism' SubClassOf 'female infertility' 'Rare female infertility due to a congenital hypogonadotropic hypogonadism' SubClassOf 'female infertility' http://www.orpha.net/ORDO/Orphanet_1864 Congenital valvular dysplasia 'Congenital valvular dysplasia' SubClassOf 'Genetic cardiac anomaly' 'Congenital valvular dysplasia' SubClassOf 'congenital tricuspid malformation' 'Congenital valvular dysplasia' SubClassOf 'Genetic cardiac anomaly' http://www.orpha.net/ORDO/Orphanet_79106 Eiken syndrome 'Eiken syndrome' SubClassOf 'Primary bone dysplasia with defective bone mineralization' 'Eiken syndrome' SubClassOf 'Primary bone dysplasia with defective bone mineralization' http://www.orpha.net/ORDO/Orphanet_79102 Thyrotoxic periodic paralysis 'Thyrotoxic periodic paralysis' SubClassOf 'familial periodic paralysis' 'Thyrotoxic periodic paralysis' SubClassOf 'familial periodic paralysis' http://www.orpha.net/ORDO/Orphanet_31150 Tangier disease 'Tangier disease' SubClassOf 'Genetic peripheral neuropathy' 'Tangier disease' SubClassOf 'Genetic peripheral neuropathy' http://www.orpha.net/ORDO/Orphanet_57782 Mazabraud syndrome 'Mazabraud syndrome' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Mazabraud syndrome' SubClassOf 'bone neoplasm' 'Mazabraud syndrome' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 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://www.ebi.ac.uk/efo/EFO_0005250 occupation-related stress disorder 'occupation-related stress disorder' SubClassOf 'mental or behavioural disorder' 'occupation-related stress disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100366 'occupation-related stress disorder' SubClassOf 'mental or behavioural disorder' 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://purl.obolibrary.org/obo/MONDO_0014368 melanoma, cutaneous malignant, susceptibility to, 10 'melanoma, cutaneous malignant, susceptibility to, 10' SubClassOf 'predisposes towards' some 'cutaneous melanoma' 'melanoma, cutaneous malignant, susceptibility to, 10' SubClassOf 'inherited disease susceptibility' 'melanoma, cutaneous malignant, susceptibility to, 10' SubClassOf 'Familial melanoma' http://www.ebi.ac.uk/efo/EFO_0005294 chronic myelogenous leukemia cell line 'chronic myelogenous leukemia cell line' SubClassOf 'cancer cell line' http://purl.obolibrary.org/obo/MONDO_0014386 platelet-type bleeding disorder 18 'platelet-type bleeding disorder 18' SubClassOf 'hemorrhagic disorder due to a platelet anomaly' 'platelet-type bleeding disorder 18' SubClassOf 'inherited bleeding disorder, platelet-type' 'platelet-type bleeding disorder 18' SubClassOf 'inherited bleeding disorder, platelet-type' 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://www.orpha.net/ORDO/Orphanet_53697 Gnathodiaphyseal dysplasia 'Gnathodiaphyseal dysplasia' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Gnathodiaphyseal dysplasia' SubClassOf 'Primary bone dysplasia with decreased bone density' 'Gnathodiaphyseal dysplasia' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Gnathodiaphyseal dysplasia' SubClassOf 'Primary bone dysplasia with decreased bone density' http://purl.obolibrary.org/obo/UBERON_0006083 perirhinal cortex '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.orpha.net/ORDO/Orphanet_90654 Stickler syndrome type 2 'Stickler syndrome type 2' SubClassOf 'Type 11 collagen-related bone disorder' 'Stickler syndrome type 2' SubClassOf 'Type 11 collagen-related bone disorder' http://www.ebi.ac.uk/efo/EFO_0005220 pulmonary neuroendocrine tumor 'pulmonary neuroendocrine tumor' SubClassOf 'lung carcinoma' http://purl.obolibrary.org/obo/MONDO_0014405 STING-associated vasculopathy with onset in infancy 'STING-associated vasculopathy with onset in infancy' SubClassOf 'genetic skin disease' 'STING-associated vasculopathy with onset in infancy' SubClassOf 'hereditary connective tissue disorder' 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.orpha.net/ORDO/Orphanet_90673 Hypothyroidism due to TSH receptor mutations 'Hypothyroidism due to TSH receptor mutations' SubClassOf 'disease of receptor activity' http://www.ebi.ac.uk/efo/EFO_0005235 primitive neuroectodermal tumor 'primitive neuroectodermal tumor' SubClassOf 'neoplasm' and ('has_disease_location' some ('brain' or ('part of' some 'brain'))) 'primitive neuroectodermal tumor' SubClassOf 'brain neoplasm' '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_0002233 enamel caries 'enamel caries' SubClassOf 'connective tissue disease' http://purl.obolibrary.org/obo/MONDO_0002241 factor XIII deficiency 'factor XIII deficiency' SubClassOf 'metabolic disease' 'factor XIII deficiency' SubClassOf 'nutritional or metabolic disease' http://www.orpha.net/ORDO/Orphanet_207090 Qualitative or quantitative defects of collagen 6 'Qualitative or quantitative defects of collagen 6' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of collagen 6' SubClassOf 'collagenopathy' 'Qualitative or quantitative defects of collagen 6' SubClassOf 'hereditary connective tissue disorder' 'Qualitative or quantitative defects of collagen 6' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' http://purl.obolibrary.org/obo/MONDO_0014274 L-ferritin deficiency 'L-ferritin deficiency' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0004917 internal hordeolum 'internal hordeolum' SubClassOf 'connective tissue disease' 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_0016767 cutaneous lichen planus 'cutaneous lichen planus' SubClassOf 'lichen planus' 'cutaneous lichen planus' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_244310 RFT1-CDG 'RFT1-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'RFT1-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 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_268322 Hereditary thrombocytopenia with normal platelets 'Hereditary thrombocytopenia with normal platelets' SubClassOf 'Rare hemorrhagic disorder due to a constitutional thrombocytopenia' http://www.orpha.net/ORDO/Orphanet_391327 X-linked calvarial hyperostosis 'X-linked calvarial hyperostosis' SubClassOf 'Primary bone dysplasia with increased bone density' 'X-linked calvarial hyperostosis' SubClassOf 'Primary bone dysplasia with increased bone density' 'X-linked calvarial hyperostosis' SubClassOf 'hyperostosis' http://www.orpha.net/ORDO/Orphanet_391330 X-linked osteoporosis with fractures 'X-linked osteoporosis with fractures' SubClassOf 'Primary bone dysplasia with decreased bone density' 'X-linked osteoporosis with fractures' SubClassOf 'Primary bone dysplasia with decreased bone density' 'X-linked osteoporosis with fractures' SubClassOf 'osteoporosis' 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_77830 Rare genetic odontologic disease 'Rare genetic odontologic disease' SubClassOf 'tooth disease' 'Rare genetic odontologic disease' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_244305 Dominant hypophosphatemia with nephrolithiasis or osteoporosis 'Dominant hypophosphatemia with nephrolithiasis or osteoporosis' SubClassOf 'Primary bone dysplasia with defective bone mineralization' 'Dominant hypophosphatemia with nephrolithiasis or osteoporosis' SubClassOf 'Primary bone dysplasia with defective bone mineralization' 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 'Turner syndrome' 'Mosaic monosomy X' SubClassOf 'Monosomy X' 'Mosaic monosomy X' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0700062 http://www.orpha.net/ORDO/Orphanet_391411 Atypical juvenile parkinsonism 'Atypical juvenile parkinsonism' SubClassOf 'parkinsonian syndrome due to neurodegenerative disease' 'Atypical juvenile parkinsonism' SubClassOf 'parkinsonian syndrome due to neurodegenerative disease' http://www.ebi.ac.uk/efo/EFO_0005403 response to dietary potassium supplementation 'response to dietary potassium supplementation' SubClassOf 'is_about' some 'potassium' http://www.orpha.net/ORDO/Orphanet_268261 21q22.13q22.2 microdeletion syndrome '21q22.13q22.2 microdeletion syndrome' SubClassOf 'syndrome caused by partial chromosomal deletion' http://www.orpha.net/ORDO/Orphanet_281244 Autosomal ichthyosis syndrome with other associated signs 'Autosomal ichthyosis syndrome with other associated signs' SubClassOf 'Autosomal ichthyosis syndrome' 'Autosomal ichthyosis syndrome with other associated signs' SubClassOf 'Autosomal ichthyosis syndrome' http://www.ebi.ac.uk/efo/EFO_0005410 tooth agenesis 'tooth agenesis' SubClassOf 'Rare genetic odontologic disease' 'tooth agenesis' SubClassOf 'tooth disease' 'tooth agenesis' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_329475 Spastic paraplegia - Paget disease of bone 'Spastic paraplegia - Paget disease of bone' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Spastic paraplegia - Paget disease of bone' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' http://purl.obolibrary.org/obo/MONDO_0016629 hemorrhagic disorder due to a platelet anomaly 'hemorrhagic disorder due to a platelet anomaly' SubClassOf 'hemorrhagic disease' http://purl.obolibrary.org/obo/MONDO_0004651 smallpox 'smallpox' SubClassOf 'viral disease' 'smallpox' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100329 http://purl.obolibrary.org/obo/MONDO_0016635 thrombotic disorder due to a platelet anomaly 'thrombotic disorder due to a platelet anomaly' SubClassOf 'thrombotic disease' 'thrombotic disorder due to a platelet anomaly' SubClassOf 'blood coagulation disease' http://purl.obolibrary.org/obo/MONDO_0016632 thrombotic disorder due to a coagulation factors defect 'thrombotic disorder due to a coagulation factors defect' SubClassOf 'blood coagulation disease' 'thrombotic disorder due to a coagulation factors defect' SubClassOf 'thrombotic disease' 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://www.orpha.net/ORDO/Orphanet_271870 Rare genetic systemic or rheumatologic disease 'Rare genetic systemic or rheumatologic disease' SubClassOf 'systemic or rheumatic disease' 'Rare genetic systemic or rheumatologic disease' EquivalentTo 'systemic or rheumatic disease' and ('has modifier' some 'inherited') http://www.orpha.net/ORDO/Orphanet_271861 Familial transthyretin-related amyloidosis 'Familial transthyretin-related amyloidosis' SubClassOf 'Rare genetic systemic or rheumatologic disease' 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_271835 Genetic digestive tract tumor 'Genetic digestive tract tumor' SubClassOf 'digestive system disease' 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 'Stickler syndrome, type I, nonsyndromic ocular' 'Autosomal dominant rhegmatogenous retinal detachment' SubClassOf 'Vitreoretinal degeneration' http://purl.obolibrary.org/obo/MONDO_0014061 Steel syndrome 'Steel syndrome' SubClassOf 'Primary bone dysplasia with defective bone mineralization' 'Steel syndrome' SubClassOf 'genetic disorder' 'Steel syndrome' SubClassOf 'bone disease' http://purl.obolibrary.org/obo/MONDO_0014078 platelet-type bleeding disorder 15 'platelet-type bleeding disorder 15' SubClassOf 'inherited bleeding disorder, platelet-type' 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://www.orpha.net/ORDO/Orphanet_90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'Non-acquired premature ovarian failure' 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'male infertility' 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'female infertility' 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'Non-acquired premature ovarian failure' http://www.orpha.net/ORDO/Orphanet_90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'male infertility' 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'male infertility' 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_0003075 xanthoma 'xanthoma' SubClassOf 'nutritional or metabolic disease' 'xanthoma' SubClassOf 'metabolic disease' 'xanthoma' SubClassOf 'metabolic disease' 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_0003095 non-alcoholic fatty liver disease 'non-alcoholic fatty liver disease' SubClassOf 'fatty liver disease' 'non-alcoholic fatty liver disease' SubClassOf 'fatty liver disease' http://www.ebi.ac.uk/efo/EFO_0003099 Cushing syndrome 'Cushing syndrome' SubClassOf 'chemically-induced disorder' http://www.orpha.net/ORDO/Orphanet_401935 14q24.1q24.3 microdeletion syndrome '14q24.1q24.3 microdeletion syndrome' SubClassOf 'syndromic intellectual disability' '14q24.1q24.3 microdeletion syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_158029 Sea-blue histiocytosis 'Sea-blue histiocytosis' SubClassOf 'Rare genetic systemic or rheumatologic disease' http://www.ebi.ac.uk/efo/EFO_0005627 perianal Crohn's disease 'perianal Crohn's disease' SubClassOf 'disorder by anatomical region' http://www.orpha.net/ORDO/Orphanet_55881 Adamantinoma 'Adamantinoma' SubClassOf 'hereditary connective tissue disorder' 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_0003025 acute megakaryoblastic leukaemia 'acute megakaryoblastic leukaemia' SubClassOf 'bilineal acute myeloid leukemia' http://www.ebi.ac.uk/efo/EFO_0003027 acute myeloblastic leukemia without maturation 'acute myeloblastic leukemia without maturation' SubClassOf 'bilineal acute myeloid leukemia' http://www.ebi.ac.uk/efo/EFO_0003026 minimally differentiated acute myeloblastic leukemia 'minimally differentiated acute myeloblastic leukemia' SubClassOf 'bilineal acute myeloid leukemia' 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_0003029 acute basophilic leukemia 'acute basophilic leukemia' SubClassOf 'bilineal acute myeloid leukemia' http://www.ebi.ac.uk/efo/EFO_0003028 acute myeloblastic leukemia with maturation 'acute myeloblastic leukemia with maturation' SubClassOf 'bilineal acute myeloid leukemia' 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_0003030 abscess 'abscess' SubClassOf 'bacterial disease' 'abscess' SubClassOf 'bacterial disease' 'abscess' SubClassOf 'infectious 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_65286 3q29 microdeletion syndrome '3q29 microdeletion syndrome' SubClassOf 'syndrome caused by partial chromosomal deletion' http://www.orpha.net/ORDO/Orphanet_65283 Timothy syndrome 'Timothy syndrome' SubClassOf 'Familial long QT syndrome' 'Timothy syndrome' SubClassOf 'Familial long QT syndrome' 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' 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/MONDO_0041447 metastatic malignant neoplasm in the colon 'metastatic malignant neoplasm in the colon' SubClassOf 'secondary carcinoma' http://purl.obolibrary.org/obo/MONDO_0016474 drug-induced lupus erythematosus 'drug-induced lupus erythematosus' SubClassOf 'systemic autoimmune disease' 'drug-induced lupus erythematosus' SubClassOf 'autoimmune disease with skin involvement' http://www.orpha.net/ORDO/Orphanet_220443 Bleeding diathesis due to thromboxane synthesis deficiency 'Bleeding diathesis due to thromboxane synthesis deficiency' SubClassOf 'inherited bleeding disorder, platelet-type' 'Bleeding diathesis due to thromboxane synthesis deficiency' SubClassOf 'Rare hemorrhagic disorder due to a constitutional thrombocytopenia' http://www.orpha.net/ORDO/Orphanet_220436 Quebec platelet disorder 'Quebec platelet disorder' SubClassOf 'inherited bleeding disorder, platelet-type' http://www.orpha.net/ORDO/Orphanet_220452 Inherited giant platelet disorder 'Inherited giant platelet disorder' SubClassOf 'Rare hemorrhagic disorder due to a constitutional thrombocytopenia' 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_0100310 hereditary cerebellar ataxia 'hereditary cerebellar ataxia' SubClassOf 'Rare genetic movement disorder' 'hereditary cerebellar ataxia' SubClassOf 'Rare genetic tremor disorder' http://www.orpha.net/ORDO/Orphanet_401942 Familial median cleft of the upper and lower lips 'Familial median cleft of the upper and lower lips' SubClassOf 'hereditary connective tissue disorder' http://purl.obolibrary.org/obo/MONDO_0100321 viral disease or post-viral disorder 'viral disease or post-viral disorder' SubClassOf 'disease' 'viral disease or post-viral disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100336 http://purl.obolibrary.org/obo/UBERON_0008998 vasculature of brain 'vasculature of brain' SubClassOf 'anatomical structure' 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://www.ebi.ac.uk/efo/EFO_0005547 dengue disease 'dengue disease' SubClassOf 'arbovirus fever' 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 'brain' 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://www.orpha.net/ORDO/Orphanet_391799 Rare genetic dystonia 'Rare genetic dystonia' SubClassOf 'Rare genetic tremor disorder' 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 http://purl.obolibrary.org/obo/MONDO_0700086 '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 'part of' some 'embryo' http://purl.obolibrary.org/obo/MONDO_0100225 collagen 6-related myopathy 'collagen 6-related myopathy' SubClassOf 'Qualitative or quantitative defects of collagen 6' 'collagen 6-related myopathy' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' http://purl.obolibrary.org/obo/UBERON_0006241 future spinal cord 'future spinal cord' SubClassOf 'part of' some 'embryo' http://purl.obolibrary.org/obo/UBERON_0006240 future forebrain 'future forebrain' SubClassOf 'part of' some 'embryo' 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 'part of' some 'embryo' http://purl.obolibrary.org/obo/MONDO_0018827 familial chilblain lupus 'familial chilblain lupus' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_77297 Majeed syndrome 'Majeed syndrome' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Majeed syndrome' SubClassOf 'genetic skin disease' 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_0018865 striate palmoplantar keratoderma 'striate palmoplantar keratoderma' SubClassOf 'Isolated focal palmoplantar keratoderma' http://www.orpha.net/ORDO/Orphanet_90280 Chilblain lupus 'Chilblain lupus' SubClassOf 'hereditary connective tissue disorder' 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://purl.obolibrary.org/obo/MONDO_0018896 thrombotic thrombocytopenic purpura 'thrombotic thrombocytopenic purpura' SubClassOf 'thrombotic disorder due to a platelet anomaly' http://purl.obolibrary.org/obo/MONDO_0100038 complex neurodevelopmental disorder 'complex neurodevelopmental disorder' SubClassOf 'nervous system disease' 'complex neurodevelopmental disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700092 http://www.orpha.net/ORDO/Orphanet_329967 Intermittent hydrarthrosis 'Intermittent hydrarthrosis' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Intermittent hydrarthrosis' SubClassOf 'Rare genetic systemic or rheumatologic disease' http://www.ebi.ac.uk/efo/EFO_0005800 substance withdrawal syndrome 'substance withdrawal syndrome' SubClassOf 'mental or behavioural disorder' 'substance withdrawal syndrome' SubClassOf 'mental or behavioural disorder' http://www.ebi.ac.uk/efo/EFO_0005701 malignant rhabdoid tumour 'malignant rhabdoid tumour' SubClassOf 'kidney neoplasm' 'malignant rhabdoid tumour' SubClassOf 'neoplasm' and ('has_disease_location' some ('kidney' or ('part of' some 'kidney'))) '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://purl.obolibrary.org/obo/MONDO_0041261 disorder of acid-base balance 'disorder of acid-base balance' SubClassOf 'nutritional or metabolic disease' 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_0005741 infectious disease 'infectious disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100336 http://www.orpha.net/ORDO/Orphanet_53351 X-linked dystonia-parkinsonism 'X-linked dystonia-parkinsonism' SubClassOf 'parkinsonian syndrome due to neurodegenerative disease' 'X-linked dystonia-parkinsonism' SubClassOf 'parkinsonian syndrome due to neurodegenerative disease' http://www.ebi.ac.uk/efo/EFO_0003103 urinary tract infection 'urinary tract infection' SubClassOf 'bacterial disease' 'urinary tract infection' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_0003108 essential tremor 'essential tremor' SubClassOf 'Rare genetic tremor disorder' 'essential tremor' SubClassOf 'Rare genetic movement disorder' 'essential tremor' SubClassOf 'movement disorder' 'essential tremor' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_90340 Blau syndrome 'Blau syndrome' SubClassOf 'systemic autoimmune disease' 'Blau syndrome' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Blau syndrome' SubClassOf 'skin sarcoidosis' 'Blau syndrome' SubClassOf 'genetic skin disease' 'Blau syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'Blau syndrome' SubClassOf 'autoimmune disease with skin involvement' 'Blau syndrome' SubClassOf 'autoimmune uveitis' http://www.orpha.net/ORDO/Orphanet_90350 Autosomal recessive cutis laxa type 2 'Autosomal recessive cutis laxa type 2' SubClassOf 'Primary bone dysplasia with decreased bone density' 'Autosomal recessive cutis laxa type 2' SubClassOf 'Primary bone dysplasia with decreased bone density' http://www.orpha.net/ORDO/Orphanet_90354 Brittle cornea syndrome 'Brittle cornea syndrome' SubClassOf 'Connective tissue disease with eye involvement' 'Brittle cornea syndrome' SubClassOf 'has modifier' some 'rare' 'Brittle cornea syndrome' SubClassOf 'Connective tissue disease with eye involvement' http://www.orpha.net/ORDO/Orphanet_53372 Hereditary geniospasm 'Hereditary geniospasm' SubClassOf 'Rare genetic movement disorder' 'Hereditary geniospasm' SubClassOf 'Rare genetic tremor disorder' 'Hereditary geniospasm' SubClassOf 'movement disorder' 'Hereditary geniospasm' SubClassOf 'Rare genetic tremor disorder' 'Hereditary geniospasm' SubClassOf 'has modifier' some 'rare' 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' http://www.orpha.net/ORDO/Orphanet_138041 Pierre Robin syndrome associated with collagen disease 'Pierre Robin syndrome associated with collagen disease' SubClassOf 'Genetic syndromic Pierre Robin syndrome' 'Pierre Robin syndrome associated with collagen disease' SubClassOf 'disease has feature' some 'collagenopathy' 'Pierre Robin syndrome associated with collagen disease' SubClassOf 'Genetic syndromic Pierre Robin syndrome' http://www.orpha.net/ORDO/Orphanet_138047 Pierre Robin syndrome associated with a chromosomal anomaly 'Pierre Robin syndrome associated with a chromosomal anomaly' SubClassOf 'Genetic syndromic Pierre Robin syndrome' 'Pierre Robin syndrome associated with a chromosomal anomaly' SubClassOf 'Genetic syndromic Pierre Robin syndrome' http://www.orpha.net/ORDO/Orphanet_138050 Pierre Robin syndrome associated with branchial archs anomalies 'Pierre Robin syndrome associated with branchial archs anomalies' SubClassOf 'Genetic syndromic Pierre Robin syndrome' 'Pierre Robin syndrome associated with branchial archs anomalies' SubClassOf 'Genetic syndromic Pierre Robin syndrome' http://www.ebi.ac.uk/efo/EFO_0009619 neuroma 'neuroma' SubClassOf 'neoplasm' 'neuroma' SubClassOf 'nervous system disease' 'neuroma' SubClassOf 'peripheral nervous system disease' http://www.orpha.net/ORDO/Orphanet_138055 Pierre Robin syndrome associated with bone disease 'Pierre Robin syndrome associated with bone disease' SubClassOf 'Genetic syndromic Pierre Robin syndrome' 'Pierre Robin syndrome associated with bone disease' SubClassOf 'Genetic syndromic Pierre Robin syndrome' http://www.ebi.ac.uk/efo/EFO_0009644 neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 'neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy' SubClassOf 'genetic disorder' 'neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy' SubClassOf 'Rare genetic neurological disorder' 'neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700092 http://www.ebi.ac.uk/efo/EFO_0009645 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 'neurodevelopmental disorder with or without anomalies of the brain, eye, or heart' SubClassOf 'genetic disorder' 'neurodevelopmental disorder with or without anomalies of the brain, eye, or heart' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700092 'neurodevelopmental disorder with or without anomalies of the brain, eye, or heart' SubClassOf 'Rare genetic neurological disorder' 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 'kidney' http://www.orpha.net/ORDO/Orphanet_99843 Leukocyte adhesion deficiency type II 'Leukocyte adhesion deficiency type II' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'Leukocyte adhesion deficiency type II' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 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://www.orpha.net/ORDO/Orphanet_3005 Pyle disease 'Pyle disease' SubClassOf 'Primary bone dysplasia with increased bone density' 'Pyle disease' SubClassOf 'Primary bone dysplasia with increased bone density' http://www.orpha.net/ORDO/Orphanet_3019 Ramon syndrome 'Ramon syndrome' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Ramon syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Ramon syndrome' SubClassOf 'genetic disorder' 'Ramon syndrome' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Ramon syndrome' SubClassOf 'musculoskeletal system disease' 'Ramon syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://www.orpha.net/ORDO/Orphanet_73230 Ossification anomalies - psychomotor development delay 'Ossification anomalies - psychomotor development delay' SubClassOf 'Primary bone dysplasia with defective bone mineralization' 'Ossification anomalies - psychomotor development delay' SubClassOf 'Primary bone dysplasia with defective bone mineralization' http://www.orpha.net/ORDO/Orphanet_3020 Ramsay-Hunt syndrome 'Ramsay-Hunt syndrome' SubClassOf 'Genetic peripheral neuropathy' http://www.orpha.net/ORDO/Orphanet_102020 Autosomal monosomy 'Autosomal monosomy' EquivalentTo 'monosomy' and 'Autosomal anomaly' 'Autosomal monosomy' SubClassOf 'monosomy' http://www.orpha.net/ORDO/Orphanet_73224 Tubular renal disease - cardiomyopathy 'Tubular renal disease - cardiomyopathy' SubClassOf 'Syndrome associated with dilated cardiomyopathy' 'Tubular renal disease - cardiomyopathy' SubClassOf 'syndromic disease' 'Tubular renal disease - cardiomyopathy' SubClassOf 'Syndrome associated with dilated cardiomyopathy' http://purl.obolibrary.org/obo/UBERON_0006865 metaphysis of femur 'metaphysis of femur' SubClassOf 'part of' some 'femur' http://www.orpha.net/ORDO/Orphanet_261476 Monosomy Xp21 'Monosomy Xp21' SubClassOf 'syndrome caused by partial chromosomal deletion' http://www.orpha.net/ORDO/Orphanet_73271 Bleeding diathesis due to a collagen receptor defect 'Bleeding diathesis due to a collagen receptor defect' SubClassOf 'hemorrhagic disorder due to a platelet anomaly' 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/MONDO_0000654 benign connective and soft tissue neoplasm 'benign connective and soft tissue neoplasm' SubClassOf 'connective tissue neoplasm' 'benign connective and soft tissue neoplasm' SubClassOf 'connective tissue disease' 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_0009525 foreign body 'foreign body' SubClassOf 'test result' 'foreign body' SubClassOf 'injury' http://www.ebi.ac.uk/efo/EFO_0009526 foreign body in gastrointestinal tract 'foreign body in gastrointestinal tract' EquivalentTo 'foreign body' and ('has_disease_location' some ('alimentary part of gastrointestinal system' or ('part of' some 'alimentary part of gastrointestinal system'))) 'foreign body in gastrointestinal tract' SubClassOf 'gastrointestinal disease' http://www.ebi.ac.uk/efo/EFO_0009544 esophageal disease 'esophageal disease' SubClassOf 'digestive system disease' http://www.ebi.ac.uk/efo/EFO_0009540 dental pulp disease 'dental pulp disease' SubClassOf 'connective tissue disease' 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://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_0009556 mineral metabolism disease 'mineral metabolism disease' SubClassOf 'nutritional or metabolic 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://www.orpha.net/ORDO/Orphanet_99706 Progeria-associated arthropathy 'Progeria-associated arthropathy' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Progeria-associated arthropathy' SubClassOf 'Rare genetic systemic or rheumatologic disease' 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 'brain' http://purl.obolibrary.org/obo/UBERON_2000294 torus lateralis 'torus lateralis' SubClassOf 'part of' some 'brain' http://www.orpha.net/ORDO/Orphanet_99797 Anodontia 'Anodontia' SubClassOf 'Rare genetic odontologic disease' 'Anodontia' SubClassOf 'tooth disease' 'Anodontia' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_99792 Dentin dysplasia - sclerotic bones 'Dentin dysplasia - sclerotic bones' SubClassOf 'Rare genetic odontologic disease' 'Dentin dysplasia - sclerotic bones' SubClassOf 'Rare genetic odontologic disease' 'Dentin dysplasia - sclerotic bones' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_99791 Dentin dysplasia type II 'Dentin dysplasia type II' SubClassOf 'genetic disorder' 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://www.orpha.net/ORDO/Orphanet_261330 Distal 22q11.2 microdeletion syndrome 'Distal 22q11.2 microdeletion syndrome' SubClassOf 'syndrome caused by partial chromosomal deletion' 'Distal 22q11.2 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 22' 'Distal 22q11.2 microdeletion syndrome' SubClassOf '22q11.2 deletion syndrome' http://purl.obolibrary.org/obo/MONDO_0000515 bone chondrosarcoma 'bone chondrosarcoma' SubClassOf 'bone cancer' 'bone chondrosarcoma' SubClassOf 'Malignant Bone Neoplasm' http://www.orpha.net/ORDO/Orphanet_261323 21q22.11q22.12 microdeletion syndrome '21q22.11q22.12 microdeletion syndrome' SubClassOf 'syndrome caused by partial chromosomal deletion' http://www.orpha.net/ORDO/Orphanet_85186 Endosteal sclerosis - cerebellar hypoplasia 'Endosteal sclerosis - cerebellar hypoplasia' SubClassOf 'Primary bone dysplasia with increased bone density' 'Endosteal sclerosis - cerebellar hypoplasia' SubClassOf 'Primary bone dysplasia with increased bone density' http://www.orpha.net/ORDO/Orphanet_85188 Metaphyseal dysplasia, Braun-Tinschert type 'Metaphyseal dysplasia, Braun-Tinschert type' SubClassOf 'Primary bone dysplasia with increased bone density' 'Metaphyseal dysplasia, Braun-Tinschert type' SubClassOf 'genetic disorder' 'Metaphyseal dysplasia, Braun-Tinschert type' SubClassOf 'Primary bone dysplasia with increased bone density' http://www.orpha.net/ORDO/Orphanet_85182 Diaphyseal medullary stenosis - bone malignancy 'Diaphyseal medullary stenosis - bone malignancy' SubClassOf 'Primary bone dysplasia with increased bone density' 'Diaphyseal medullary stenosis - bone malignancy' SubClassOf 'Primary bone dysplasia' 'Diaphyseal medullary stenosis - bone malignancy' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_85184 Craniometadiaphyseal dysplasia, wormian bone type 'Craniometadiaphyseal dysplasia, wormian bone type' SubClassOf 'Primary bone dysplasia with increased bone density' 'Craniometadiaphyseal dysplasia, wormian bone type' SubClassOf 'Primary bone dysplasia with increased bone density' http://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://www.orpha.net/ORDO/Orphanet_85174 Pseudodiastrophic dysplasia 'Pseudodiastrophic dysplasia' SubClassOf 'Primary bone dysplasia with multiple joint dislocations' 'Pseudodiastrophic dysplasia' SubClassOf 'Primary bone dysplasia with multiple joint dislocations' http://purl.obolibrary.org/obo/UBERON_0004141 heart tube 'heart tube' SubClassOf 'part of' some 'embryo' http://www.orpha.net/ORDO/Orphanet_85165 Severe achondroplasia - developmental delay - acanthosis nigricans 'Severe achondroplasia - developmental delay - acanthosis nigricans' SubClassOf 'Primary bone dysplasia with micromelia' 'Severe achondroplasia - developmental delay - acanthosis nigricans' SubClassOf 'Primary bone dysplasia with micromelia' http://www.orpha.net/ORDO/Orphanet_99776 Mosaic trisomy 9 'Mosaic trisomy 9' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700065 'Mosaic trisomy 9' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0700062 http://purl.obolibrary.org/obo/MONDO_0024503 digestive system neuroendocrine neoplasm 'digestive system neuroendocrine neoplasm' SubClassOf 'digestive system disease' http://purl.obolibrary.org/obo/MONDO_0024502 gallbladder neuroendocrine neoplasm 'gallbladder neuroendocrine neoplasm' SubClassOf 'inherited neuroendocrine tumor' 'gallbladder neuroendocrine neoplasm' SubClassOf 'Genetic endocrine tumor' 'gallbladder neuroendocrine neoplasm' SubClassOf 'digestive system neuroendocrine neoplasm' http://www.orpha.net/ORDO/Orphanet_99789 Dentin dysplasia type I 'Dentin dysplasia type I' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_1002001 core binding factor acute myeloid leukemia 'core binding factor acute myeloid leukemia' SubClassOf 'acute leukemia of ambiguous lineage' 'core binding factor acute myeloid leukemia' SubClassOf 'bilineal acute myeloid leukemia' http://www.ebi.ac.uk/efo/EFO_1002019 oligoarticular juvenile idiopathic arthritis 'oligoarticular juvenile idiopathic arthritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017256 http://www.ebi.ac.uk/efo/EFO_1002020 polyarticular juvenile idiopathic arthritis, rheumatoid factor negative 'polyarticular juvenile idiopathic arthritis, rheumatoid factor negative' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017256 http://www.ebi.ac.uk/efo/EFO_1002026 rubella 'rubella' SubClassOf 'viral disease' 'rubella' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100329 http://www.ebi.ac.uk/efo/EFO_1002023 plantar wart 'plantar wart' SubClassOf 'viral disease' 'plantar wart' EquivalentTo 'disease' and ('has_disease_location' some ('pes' or ('part of' some 'pes'))) 'plantar wart' SubClassOf 'common wart' 'plantar wart' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100329 'plantar wart' SubClassOf 'has_disease_location' some ('pes' or ('part of' some 'pes')) 'plantar wart' SubClassOf 'skin disease caused by infection' http://www.orpha.net/ORDO/Orphanet_85197 Genochondromatosis type 1 'Genochondromatosis type 1' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Genochondromatosis type 1' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 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_85198 Dysspondyloenchondromatosis 'Dysspondyloenchondromatosis' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Dysspondyloenchondromatosis' SubClassOf 'Primary bone dysplasia' 'Dysspondyloenchondromatosis' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' http://www.orpha.net/ORDO/Orphanet_85191 Singleton-Merten dysplasia 'Singleton-Merten dysplasia' SubClassOf 'Primary bone dysplasia with decreased bone density' 'Singleton-Merten dysplasia' SubClassOf 'hereditary connective tissue disorder' 'Singleton-Merten dysplasia' SubClassOf 'Primary bone dysplasia with decreased bone density' http://www.orpha.net/ORDO/Orphanet_85193 Idiopathic juvenile osteoporosis 'Idiopathic juvenile osteoporosis' SubClassOf 'Primary bone dysplasia with decreased bone density' 'Idiopathic juvenile osteoporosis' SubClassOf 'hereditary connective tissue disorder' 'Idiopathic juvenile osteoporosis' SubClassOf 'has modifier' some 'rare' 'Idiopathic juvenile osteoporosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700007 'Idiopathic juvenile osteoporosis' SubClassOf 'Primary bone dysplasia with decreased bone density' http://www.orpha.net/ORDO/Orphanet_85192 Calvarial doughnut lesions - bone fragility 'Calvarial doughnut lesions - bone fragility' SubClassOf 'Primary bone dysplasia with decreased bone density' 'Calvarial doughnut lesions - bone fragility' SubClassOf 'Primary bone dysplasia with decreased bone density' http://www.orpha.net/ORDO/Orphanet_85194 Spondylo-ocular syndrome 'Spondylo-ocular syndrome' SubClassOf 'Primary bone dysplasia with decreased bone density' 'Spondylo-ocular syndrome' SubClassOf 'Primary bone dysplasia with decreased bone density' http://www.ebi.ac.uk/efo/EFO_0007200 cerebral toxoplasmosis 'cerebral toxoplasmosis' SubClassOf 'immune system disease' 'cerebral toxoplasmosis' SubClassOf 'immune system disease' 'cerebral toxoplasmosis' SubClassOf 'toxoplasmosis' http://www.ebi.ac.uk/efo/EFO_0007225 cowpox 'cowpox' SubClassOf 'viral disease' 'cowpox' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100329 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://www.orpha.net/ORDO/Orphanet_319195 Chondroectodermal dysplasia with night blindness 'Chondroectodermal dysplasia with night blindness' SubClassOf 'Primary bone dysplasia with decreased bone density' 'Chondroectodermal dysplasia with night blindness' SubClassOf 'Primary bone dysplasia with decreased bone density' 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_0007244 Ebstein anomaly 'Ebstein anomaly' SubClassOf 'aortic disease' http://www.orpha.net/ORDO/Orphanet_319171 Distal 17p13.1 microdeletion syndrome 'Distal 17p13.1 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0013415 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://www.orpha.net/ORDO/Orphanet_210115 Sterile multifocal osteomyelitis with periostitis and pustulosis 'Sterile multifocal osteomyelitis with periostitis and pustulosis' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Sterile multifocal osteomyelitis with periostitis and pustulosis' SubClassOf 'genetic skin disease' http://www.ebi.ac.uk/efo/EFO_0007255 Enterovirus infectious disease 'Enterovirus infectious disease' SubClassOf 'digestive system infectious disease' 'Enterovirus infectious disease' SubClassOf 'disease by anatomical system' http://www.ebi.ac.uk/efo/EFO_0007259 epidemic pleurodynia 'epidemic pleurodynia' SubClassOf 'Enterovirus infectious disease' 'epidemic pleurodynia' SubClassOf 'viral disease' http://www.ebi.ac.uk/efo/EFO_0007260 epidural abscess 'epidural abscess' SubClassOf 'abscess' 'epidural abscess' SubClassOf 'central nervous system infection' http://www.orpha.net/ORDO/Orphanet_3289 Taurodontism 'Taurodontism' SubClassOf 'Rare genetic odontologic disease' 'Taurodontism' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0007290 Goodpasture syndrome 'Goodpasture syndrome' SubClassOf 'secondary glomerular disease' 'Goodpasture syndrome' SubClassOf 'autoimmune vasculitis' 'Goodpasture syndrome' SubClassOf 'predominantly small-vessel vasculitis' 'Goodpasture syndrome' SubClassOf 'secondary interstitial lung disease in childhood and adulthood associated with a systemic disease' 'Goodpasture syndrome' SubClassOf 'type II hypersensitivity reaction disease' http://www.ebi.ac.uk/efo/EFO_0007294 hand, foot and mouth disease 'hand, foot and mouth disease' SubClassOf 'Enterovirus infectious disease' 'hand, foot and mouth disease' SubClassOf 'viral disease' 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_0007274 Flaviviridae infectious disease 'Flaviviridae infectious disease' SubClassOf 'viral disease' 'Flaviviridae infectious disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100329 http://www.ebi.ac.uk/efo/EFO_0007282 genital herpes 'genital herpes' SubClassOf 'male reproductive system disease' 'genital herpes' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100330 http://www.ebi.ac.uk/efo/EFO_0007297 HELLP syndrome 'HELLP syndrome' SubClassOf 'hemorrhagic disorder due to a platelet anomaly' http://www.ebi.ac.uk/efo/EFO_0007299 hemorrhagic fever with renal syndrome 'hemorrhagic fever with renal syndrome' SubClassOf 'viral disease' http://www.orpha.net/ORDO/Orphanet_85453 X-linked reticulate pigmentary disorder with systemic manifestations 'X-linked reticulate pigmentary disorder with systemic manifestations' SubClassOf 'systemic disease' 'X-linked reticulate pigmentary disorder with systemic manifestations' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'X-linked reticulate pigmentary disorder with systemic manifestations' SubClassOf 'hereditary connective tissue disorder' http://purl.obolibrary.org/obo/UBERON_0006603 presumptive mesoderm 'presumptive mesoderm' SubClassOf 'part of' some 'embryo' http://purl.obolibrary.org/obo/UBERON_0006601 presumptive ectoderm 'presumptive ectoderm' SubClassOf 'part of' some 'embryo' http://purl.obolibrary.org/obo/UBERON_0006600 presumptive enteric nervous system 'presumptive enteric nervous system' SubClassOf 'part of' some 'embryo' http://www.orpha.net/ORDO/Orphanet_3320 Thrombocytopenia - absent radius 'Thrombocytopenia - absent radius' SubClassOf 'Rare hemorrhagic disorder due to a constitutional thrombocytopenia' http://www.orpha.net/ORDO/Orphanet_3324 Familial thrombomodulin anomalies 'Familial thrombomodulin anomalies' SubClassOf 'thrombotic disorder due to a coagulation factors defect' http://www.orpha.net/ORDO/Orphanet_309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome 'Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome' SubClassOf 'parkinsonian syndrome due to neurodegenerative disease' 'Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome' SubClassOf 'parkinsonian syndrome due to neurodegenerative disease' 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 'part of' some 'embryo' 'medial nasal prominence' SubClassOf 'anatomical structure' http://purl.obolibrary.org/obo/UBERON_0004067 lateral nasal prominence 'lateral nasal prominence' SubClassOf 'anatomical structure' 'lateral nasal prominence' SubClassOf 'part of' some 'embryo' http://www.orpha.net/ORDO/Orphanet_3352 Tricho-dento-osseous syndrome 'Tricho-dento-osseous syndrome' SubClassOf 'Primary bone dysplasia with increased bone density' 'Tricho-dento-osseous syndrome' SubClassOf 'Primary bone dysplasia with increased bone density' 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_3307 Tetrasomy 18p 'Tetrasomy 18p' SubClassOf 'tetrasomy' http://www.orpha.net/ORDO/Orphanet_3306 Duplication/inversion 15q11 'Duplication/inversion 15q11' SubClassOf 'epilepsy' 'Duplication/inversion 15q11' SubClassOf 'epilepsy' http://www.orpha.net/ORDO/Orphanet_3310 Tetrasomy 9p 'Tetrasomy 9p' SubClassOf 'tetrasomy' http://www.orpha.net/ORDO/Orphanet_3319 Congenital amegakaryocytic thrombocytopenia 'Congenital amegakaryocytic thrombocytopenia' SubClassOf 'Rare hemorrhagic disorder due to a constitutional thrombocytopenia' http://www.orpha.net/ORDO/Orphanet_3309 Tetrasomy 5p 'Tetrasomy 5p' SubClassOf 'tetrasomy' 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/MONDO_0024431 bilirubin metabolism disease 'bilirubin metabolism disease' SubClassOf 'nutritional or metabolic disease' http://purl.obolibrary.org/obo/MONDO_0024462 familial cutaneous melanoma 'familial cutaneous melanoma' SubClassOf 'Familial melanoma' 'familial cutaneous melanoma' EquivalentTo 'cutaneous melanoma' and ('has modifier' some 'inherited') 'familial cutaneous melanoma' SubClassOf 'cutaneous melanoma' 'familial cutaneous melanoma' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'cutaneous melanoma') 'familial cutaneous melanoma' SubClassOf 'predisposes towards' some 'cutaneous melanoma' 'familial cutaneous melanoma' SubClassOf 'inherited disease susceptibility' http://www.ebi.ac.uk/efo/EFO_0009732 enthesitis-related juvenile idiopathic arthritis 'enthesitis-related juvenile idiopathic arthritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017256 http://purl.obolibrary.org/obo/MONDO_0012287 Stickler syndrome, type I, nonsyndromic ocular 'Stickler syndrome, type I, nonsyndromic ocular' SubClassOf 'Stickler syndrome type 1' http://purl.obolibrary.org/obo/UBERON_2000482 caudal tuberal nucleus 'caudal tuberal nucleus' SubClassOf 'part of' some 'brain' http://purl.obolibrary.org/obo/MONDO_0024297 nutritional or metabolic disease 'nutritional or metabolic disease' SubClassOf 'disease by cellular process disrupted' 'nutritional or metabolic disease' EquivalentTo 'metabolic disease' or 'nutritional disorder' http://purl.obolibrary.org/obo/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.orpha.net/ORDO/Orphanet_36355 P2Y12 defect 'P2Y12 defect' SubClassOf 'hemorrhagic disorder due to a platelet anomaly' 'P2Y12 defect' SubClassOf 'inherited bleeding disorder, platelet-type' 'P2Y12 defect' SubClassOf 'inherited bleeding disorder, platelet-type' 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_0007150 Arenaviridae infectious disease 'Arenaviridae infectious disease' SubClassOf 'viral disease' 'Arenaviridae infectious disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100329 http://www.ebi.ac.uk/efo/EFO_0007131 acute hemorrhagic conjunctivitis 'acute hemorrhagic conjunctivitis' SubClassOf 'poliovirus infection' 'acute hemorrhagic conjunctivitis' SubClassOf 'viral eye infection' http://www.ebi.ac.uk/efo/EFO_0007135 adult-onset Still's disease 'adult-onset Still's disease' SubClassOf 'secondary glomerular disease' 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_0007139 aleutian mink disease 'aleutian mink disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100329 http://www.ebi.ac.uk/efo/EFO_0007163 balantidiasis 'balantidiasis' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_0007158 Astroviridae infectious disease 'Astroviridae infectious disease' SubClassOf 'viral disease' 'Astroviridae infectious disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100329 http://www.orpha.net/ORDO/Orphanet_36367 Distal monosomy 1q 'Distal monosomy 1q' SubClassOf http://purl.obolibrary.org/obo/MONDO_0022756 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.ebi.ac.uk/efo/EFO_0007188 Bunyaviridae infectious disease 'Bunyaviridae infectious disease' SubClassOf 'viral disease' 'Bunyaviridae infectious disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100329 http://www.ebi.ac.uk/efo/EFO_0007189 Caliciviridae infectious disease 'Caliciviridae infectious disease' SubClassOf 'viral disease' 'Caliciviridae infectious disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100329 http://www.orpha.net/ORDO/Orphanet_3197 Hereditary hyperekplexia 'Hereditary hyperekplexia' SubClassOf 'Rare genetic tremor disorder' http://www.orpha.net/ORDO/Orphanet_85331 X-linked intellectual disability - hypogonadism - ichthyosis - obesity - short stature 'X-linked intellectual disability - hypogonadism - ichthyosis - obesity - short stature' SubClassOf 'Autosomal ichthyosis syndrome with other associated signs' 'X-linked intellectual disability - hypogonadism - ichthyosis - obesity - short stature' SubClassOf 'Autosomal ichthyosis syndrome with other associated signs' http://www.orpha.net/ORDO/Orphanet_85332 X-linked intellectual disability-retinitis pigmentosa syndrome 'X-linked intellectual disability-retinitis pigmentosa syndrome' SubClassOf 'syndrome caused by partial chromosomal deletion' 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_3157 Septo-optic dysplasia 'Septo-optic dysplasia' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'Septo-optic dysplasia' SubClassOf 'Syndromic optic nerve hypoplasia' 'Septo-optic dysplasia' SubClassOf 'Syndromic developmental defect of the eye' 'Septo-optic dysplasia' SubClassOf 'Disease associated with non-acquired combined pituitary hormone deficiency' 'Septo-optic dysplasia' SubClassOf 'syndromic disease' 'Septo-optic dysplasia' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'Septo-optic dysplasia' SubClassOf 'Syndromic optic nerve hypoplasia' 'Septo-optic dysplasia' SubClassOf 'Syndromic developmental defect of the eye' 'Septo-optic dysplasia' SubClassOf 'Disease associated with non-acquired combined pituitary hormone deficiency' http://www.orpha.net/ORDO/Orphanet_3152 Sclerosteosis 'Sclerosteosis' SubClassOf 'Primary bone dysplasia with increased bone density' 'Sclerosteosis' SubClassOf 'Primary bone dysplasia with increased bone density' http://www.orpha.net/ORDO/Orphanet_3151 Multiple sclerosis - ichthyosis - factor VIII deficiency 'Multiple sclerosis - ichthyosis - factor VIII deficiency' SubClassOf 'Autosomal ichthyosis syndrome with other associated signs' 'Multiple sclerosis - ichthyosis - factor VIII deficiency' SubClassOf 'Autosomal ichthyosis syndrome with other associated signs' 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://www.orpha.net/ORDO/Orphanet_3204 Stormorken-Sjaastad-Langslet syndrome 'Stormorken-Sjaastad-Langslet syndrome' SubClassOf 'Rare hemorrhagic disorder due to a constitutional thrombocytopenia' http://purl.obolibrary.org/obo/UBERON_0006595 presumptive endoderm 'presumptive endoderm' SubClassOf 'part of' some 'embryo' 'presumptive endoderm' SubClassOf 'anatomical structure' http://purl.obolibrary.org/obo/UBERON_0006596 presumptive blood 'presumptive blood' SubClassOf 'part of' some 'embryo' http://purl.obolibrary.org/obo/UBERON_0006599 presumptive hypochord 'presumptive hypochord' SubClassOf 'part of' some 'embryo' 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' 'Deafness - lymphedema - leukemia' SubClassOf 'genetic vascular tumor' 'Deafness - lymphedema - leukemia' SubClassOf 'vascular neoplasm' 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_0024318 viral infection of central nervous system 'viral infection of central nervous system' SubClassOf 'viral disease' http://purl.obolibrary.org/obo/MONDO_0024317 chronic pain syndrome 'chronic pain syndrome' SubClassOf 'disorder involving pain' 'chronic pain syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700057 http://purl.obolibrary.org/obo/MONDO_0014995 neurodevelopmental disorder with hypotonia, seizures, and absent language 'neurodevelopmental disorder with hypotonia, seizures, and absent language' SubClassOf 'genetic disorder' 'neurodevelopmental disorder with hypotonia, seizures, and absent language' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700092 'neurodevelopmental disorder with hypotonia, seizures, and absent language' SubClassOf 'Rare genetic neurological disorder' 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://purl.obolibrary.org/obo/MONDO_0024322 disorder of glycosylation 'disorder of glycosylation' SubClassOf 'nutritional or metabolic disease' http://www.orpha.net/ORDO/Orphanet_319340 Carney complex-trismus-pseudocamptodactyly syndrome 'Carney complex-trismus-pseudocamptodactyly syndrome' SubClassOf 'bone neoplasm' http://www.orpha.net/ORDO/Orphanet_261529 Ring chromosome Y 'Ring chromosome Y' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700091 http://purl.obolibrary.org/obo/MONDO_0000385 benign digestive system neoplasm 'benign digestive system neoplasm' SubClassOf 'digestive system disease' http://purl.obolibrary.org/obo/MONDO_0000389 atelosteogenesis 'atelosteogenesis' SubClassOf 'hereditary connective tissue disorder' 'atelosteogenesis' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_261524 Paternal uniparental disomy of chromosome X 'Paternal uniparental disomy of chromosome X' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700086 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://www.ebi.ac.uk/efo/EFO_0010713 10x immune profiling '10x immune profiling' SubClassOf http://www.ebi.ac.uk/efo/EFO_0030015 '10x immune profiling' SubClassOf 'RNA assay' http://www.orpha.net/ORDO/Orphanet_261519 Maternal uniparental disomy of chromosome X 'Maternal uniparental disomy of chromosome X' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700086 http://purl.obolibrary.org/obo/MONDO_0024341 retinal cell neoplasm 'retinal cell neoplasm' SubClassOf 'retina neoplasm' 'retinal cell neoplasm' SubClassOf 'Retinal Neoplasm' http://purl.obolibrary.org/obo/MONDO_0000166 encephalopathy, acute, infection-induced 'encephalopathy, acute, infection-induced' SubClassOf 'brain disease' 'encephalopathy, acute, infection-induced' SubClassOf 'brain disease' http://purl.obolibrary.org/obo/MONDO_0000160 epilepsy, familial adult myoclonic 'epilepsy, familial adult myoclonic' SubClassOf 'Early myoclonic encephalopathy' 'epilepsy, familial adult myoclonic' SubClassOf 'Early myoclonic encephalopathy' http://www.ebi.ac.uk/efo/EFO_0007434 pharyngoconjunctival fever 'pharyngoconjunctival fever' SubClassOf 'adenoviridae infectious disease' 'pharyngoconjunctival fever' SubClassOf 'viral disease' http://www.ebi.ac.uk/efo/EFO_0007438 Picornaviridae infectious disease 'Picornaviridae infectious disease' SubClassOf 'viral disease' 'Picornaviridae infectious disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100329 http://www.ebi.ac.uk/efo/EFO_0007437 Phlebotomus fever 'Phlebotomus fever' SubClassOf 'viral disease' 'Phlebotomus fever' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100329 http://purl.obolibrary.org/obo/MONDO_0000173 muscular dystrophy-dystroglycanopathy, type C 'muscular dystrophy-dystroglycanopathy, type C' SubClassOf 'Congenital muscular dystrophy due to dystroglycanopathy' 'muscular dystrophy-dystroglycanopathy, type C' SubClassOf 'Congenital muscular dystrophy due to dystroglycanopathy' http://purl.obolibrary.org/obo/MONDO_0000172 muscular dystrophy-dystroglycanopathy, type B 'muscular dystrophy-dystroglycanopathy, type B' SubClassOf 'Congenital muscular dystrophy due to dystroglycanopathy' 'muscular dystrophy-dystroglycanopathy, type B' SubClassOf 'Congenital muscular dystrophy due to dystroglycanopathy' http://purl.obolibrary.org/obo/MONDO_0000171 muscular dystrophy-dystroglycanopathy, type A 'muscular dystrophy-dystroglycanopathy, type A' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'muscular dystrophy-dystroglycanopathy, type A' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 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_0007462 REM sleep behavior disorder 'REM sleep behavior disorder' SubClassOf 'mental or behavioural disorder' http://www.ebi.ac.uk/efo/EFO_0007467 Reye syndrome 'Reye syndrome' SubClassOf 'systemic disease' 'Reye syndrome' SubClassOf 'rheumatic disease' 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 'part of' some 'kidney' http://www.ebi.ac.uk/efo/EFO_0007464 Reoviridae infectious disease 'Reoviridae infectious disease' SubClassOf 'viral disease' 'Reoviridae infectious disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100329 http://www.ebi.ac.uk/efo/EFO_0007451 Polyomavirus infectious disease 'Polyomavirus infectious disease' SubClassOf 'viral disease' 'Polyomavirus infectious disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100329 http://purl.obolibrary.org/obo/UBERON_0004648 esophagus muscularis mucosa 'esophagus muscularis mucosa' SubClassOf 'part of' some 'esophagus' http://www.ebi.ac.uk/efo/EFO_0007458 pulmonary blastoma 'pulmonary blastoma' SubClassOf 'bronchopulmonary tumor' http://purl.obolibrary.org/obo/UBERON_0004640 renal efferent arteriole 'renal efferent arteriole' SubClassOf 'part of' some 'kidney' 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_0007492 splenic tuberculosis 'splenic tuberculosis' SubClassOf 'digestive system infectious disease' http://www.ebi.ac.uk/efo/EFO_0007491 spleen cancer 'spleen cancer' SubClassOf 'carcinoma' http://purl.obolibrary.org/obo/MONDO_0012183 melanoma, cutaneous malignant, susceptibility to, 3 'melanoma, cutaneous malignant, susceptibility to, 3' SubClassOf 'predisposes towards' some 'cutaneous melanoma' 'melanoma, cutaneous malignant, susceptibility to, 3' SubClassOf 'inherited disease susceptibility' 'melanoma, cutaneous malignant, susceptibility to, 3' SubClassOf 'Familial melanoma' http://purl.obolibrary.org/obo/MONDO_0012197 idiopathic aplastic anemia 'idiopathic aplastic anemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700007 http://www.ebi.ac.uk/efo/EFO_0007493 spondylolisthesis 'spondylolisthesis' SubClassOf 'hereditary connective tissue disorder' 'spondylolisthesis' SubClassOf 'genetic disorder' 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' 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_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 'respiratory tract' 'epithelium of bronchiole' SubClassOf 'part of' some 'respiratory system' 'epithelium of bronchiole' SubClassOf 'part of' some 'bronchiole' 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://purl.obolibrary.org/obo/MONDO_0014805 Hao-Fountain syndrome 'Hao-Fountain syndrome' SubClassOf 'syndrome caused by partial chromosomal deletion' 'Hao-Fountain syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700092 http://www.orpha.net/ORDO/Orphanet_75496 Ehlers-Danlos syndrome, progeroid type 'Ehlers-Danlos syndrome, progeroid type' SubClassOf 'Primary bone dysplasia with decreased bone density' 'Ehlers-Danlos syndrome, progeroid type' SubClassOf 'Primary bone dysplasia with decreased bone density' http://purl.obolibrary.org/obo/MONDO_0014821 complex lethal osteochondrodysplasia 'complex lethal osteochondrodysplasia' SubClassOf 'Primary bone dysplasia with decreased bone density' 'complex lethal osteochondrodysplasia' SubClassOf 'genetic disorder' 'complex lethal osteochondrodysplasia' SubClassOf 'Primary bone dysplasia with decreased bone density' http://www.orpha.net/ORDO/Orphanet_261846 Partial deletion of chromosome 20 'Partial deletion of chromosome 20' SubClassOf 'syndrome caused by partial chromosomal deletion' http://www.orpha.net/ORDO/Orphanet_261836 Partial deletion of chromosome 18 'Partial deletion of chromosome 18' SubClassOf 'syndrome caused by partial chromosomal deletion' http://www.orpha.net/ORDO/Orphanet_261831 Partial deletion of chromosome 17 'Partial deletion of chromosome 17' SubClassOf 'syndrome caused by partial chromosomal deletion' http://www.orpha.net/ORDO/Orphanet_261841 Partial deletion of chromosome 19 'Partial deletion of chromosome 19' SubClassOf 'syndrome caused by partial chromosomal deletion' http://www.ebi.ac.uk/efo/EFO_0007406 oral candidiasis 'oral candidiasis' SubClassOf 'digestive system infectious disease' http://purl.obolibrary.org/obo/MONDO_0014893 Okur-Chung neurodevelopmental syndrome 'Okur-Chung neurodevelopmental syndrome' SubClassOf 'genetic disorder' 'Okur-Chung neurodevelopmental syndrome' SubClassOf 'Rare genetic neurological disorder' 'Okur-Chung neurodevelopmental syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700092 http://www.ebi.ac.uk/efo/EFO_0007429 peritonsillar abscess 'peritonsillar abscess' SubClassOf 'digestive system infectious disease' 'peritonsillar abscess' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_0007411 Orthomyxoviridae infectious disease 'Orthomyxoviridae infectious disease' SubClassOf 'viral disease' 'Orthomyxoviridae infectious disease' SubClassOf 'viral disease' http://www.ebi.ac.uk/efo/EFO_0007416 pancreatic endocrine carcinoma 'pancreatic endocrine carcinoma' SubClassOf 'pancreatic carcinoma' http://www.orpha.net/ORDO/Orphanet_199318 15q13.3 microdeletion syndrome '15q13.3 microdeletion syndrome' SubClassOf 'epilepsy' '15q13.3 microdeletion syndrome' SubClassOf 'syndrome caused by partial chromosomal deletion' '15q13.3 microdeletion syndrome' SubClassOf 'epilepsy' http://purl.obolibrary.org/obo/MONDO_0000045 hypothyroidism, congenital, nongoitrous 'hypothyroidism, congenital, nongoitrous' SubClassOf 'Congenital hypothyroidism' 'hypothyroidism, congenital, nongoitrous' SubClassOf 'Congenital hypothyroidism' 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 'Orthomyxoviridae infectious disease' 'influenza' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100329 http://www.ebi.ac.uk/efo/EFO_0007316 Human T-lymphotropic virus 1 infectious disease 'Human T-lymphotropic virus 1 infectious disease' SubClassOf 'deltaretrovirus infections' 'Human T-lymphotropic virus 1 infectious disease' SubClassOf 'viral disease' http://www.ebi.ac.uk/efo/EFO_0007319 hyperprolactinemia 'hyperprolactinemia' SubClassOf 'nutritional or metabolic disease' http://purl.obolibrary.org/obo/MONDO_0000060 microcephalic osteodysplastic primordial dwarfism 'microcephalic osteodysplastic primordial dwarfism' SubClassOf 'microcephaly (disease)' 'microcephalic osteodysplastic primordial dwarfism' SubClassOf 'microcephaly (disease)' http://www.ebi.ac.uk/efo/EFO_0007348 louping ill 'louping ill' SubClassOf 'Flaviviridae infectious disease' 'louping ill' SubClassOf 'viral disease' http://www.ebi.ac.uk/efo/EFO_0007331 islet cell tumor 'islet cell tumor' SubClassOf 'pancreatic neoplasm' 'islet cell tumor' SubClassOf 'pancreatic neoplasm' http://www.ebi.ac.uk/efo/EFO_0007330 intestinal cancer 'intestinal cancer' SubClassOf 'carcinoma' http://www.ebi.ac.uk/efo/EFO_0007335 Kluver-Bucy syndrome 'Kluver-Bucy syndrome' SubClassOf 'mental or behavioural disorder' 'Kluver-Bucy syndrome' SubClassOf 'mental or behavioural disorder' http://www.ebi.ac.uk/efo/EFO_0007332 Japanese encephalitis 'Japanese encephalitis' SubClassOf 'Flaviviridae infectious disease' http://www.ebi.ac.uk/efo/EFO_0007336 Langerhans cell sarcoma 'Langerhans cell sarcoma' SubClassOf 'myeloid neoplasm' http://purl.obolibrary.org/obo/MONDO_0000075 neuronopathy, distal hereditary motor 'neuronopathy, distal hereditary motor' SubClassOf 'motor neuron disease' 'neuronopathy, distal hereditary motor' SubClassOf 'motor neuron disease' http://www.orpha.net/ORDO/Orphanet_261826 Partial deletion of chromosome 16 'Partial deletion of chromosome 16' SubClassOf 'syndrome caused by partial chromosomal deletion' http://www.ebi.ac.uk/efo/EFO_0007362 mediastinal cancer 'mediastinal cancer' SubClassOf 'carcinoma' http://www.orpha.net/ORDO/Orphanet_261816 Partial deletion of chromosome 11 'Partial deletion of chromosome 11' SubClassOf 'syndrome caused by partial chromosomal deletion' http://www.orpha.net/ORDO/Orphanet_261811 Partial deletion of chromosome 10 'Partial deletion of chromosome 10' SubClassOf 'syndrome caused by partial chromosomal deletion' http://www.ebi.ac.uk/efo/EFO_0007355 male reproductive organ cancer 'male reproductive organ cancer' SubClassOf 'carcinoma' http://purl.obolibrary.org/obo/MONDO_0000090 progressive external ophthalmoplegia with mitochondrial DNA deletions 'progressive external ophthalmoplegia with mitochondrial DNA deletions' SubClassOf 'progressive external ophthalmoplegia' 'progressive external ophthalmoplegia with mitochondrial DNA deletions' SubClassOf 'progressive external ophthalmoplegia' http://www.ebi.ac.uk/efo/EFO_0007384 muscle cancer 'muscle cancer' SubClassOf 'carcinoma' http://www.orpha.net/ORDO/Orphanet_261801 Partial deletion of chromosome 8 'Partial deletion of chromosome 8' SubClassOf 'syndrome caused by partial chromosomal deletion' http://www.orpha.net/ORDO/Orphanet_261806 Partial deletion of chromosome 9 'Partial deletion of chromosome 9' SubClassOf 'syndrome caused by partial chromosomal deletion' http://www.ebi.ac.uk/efo/EFO_0007392 nervous system cancer 'nervous system cancer' SubClassOf 'carcinoma' http://www.ebi.ac.uk/efo/EFO_0007374 mixed connective tissue disease 'mixed connective tissue disease' SubClassOf 'skeletal system disease' 'mixed connective tissue disease' SubClassOf 'autoimmune neuropathy' 'mixed connective tissue disease' SubClassOf 'autoimmune disease of musculoskeletal system' http://www.ebi.ac.uk/efo/EFO_0007376 Mononegavirales infectious disease 'Mononegavirales infectious disease' SubClassOf 'viral disease' 'Mononegavirales infectious disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100329 http://www.ebi.ac.uk/efo/EFO_0007396 Nidovirales infectious disease 'Nidovirales infectious disease' SubClassOf 'viral disease' 'Nidovirales infectious disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100329 http://www.ebi.ac.uk/efo/EFO_0007395 Newcastle disease 'Newcastle disease' SubClassOf 'Paramyxoviridae infectious disease' 'Newcastle disease' SubClassOf 'viral disease' http://purl.obolibrary.org/obo/UBERON_0016540 occipital cortex 'occipital cortex' SubClassOf 'anatomical entity' 'occipital cortex' SubClassOf 'anatomical structure' 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_99324 Paternal uniparental disomy of chromosome 13 'Paternal uniparental disomy of chromosome 13' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700086 http://www.orpha.net/ORDO/Orphanet_99329 48,XYYY syndrome '48,XYYY syndrome' SubClassOf 'tetrasomy' http://www.orpha.net/ORDO/Orphanet_75325 Osteosclerosis - ichthyosis - premature ovarian failure 'Osteosclerosis - ichthyosis - premature ovarian failure' SubClassOf 'Autosomal ichthyosis syndrome with other associated signs' 'Osteosclerosis - ichthyosis - premature ovarian failure' SubClassOf 'Primary bone dysplasia with increased bone density' 'Osteosclerosis - ichthyosis - premature ovarian failure' SubClassOf 'Autosomal ichthyosis syndrome with other associated signs' 'Osteosclerosis - ichthyosis - premature ovarian failure' SubClassOf 'Primary bone dysplasia with increased bone density' http://www.orpha.net/ORDO/Orphanet_329324 Inverse Klippel-Trénaunay syndrome 'Inverse Klippel-Trénaunay syndrome' SubClassOf 'genetic vascular tumor' 'Inverse Klippel-Trénaunay syndrome' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_99330 49,XYYYY syndrome '49,XYYYY syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700085 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://www.orpha.net/ORDO/Orphanet_329319 Hereditary thrombocytosis with transverse limb defect 'Hereditary thrombocytosis with transverse limb defect' SubClassOf 'thrombotic disorder due to a platelet anomaly' http://www.orpha.net/ORDO/Orphanet_75377 Central areolar choroidal dystrophy 'Central areolar choroidal dystrophy' SubClassOf 'optic choroid disease' 'Central areolar choroidal dystrophy' SubClassOf 'optic choroid disease' 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_0000105 anemia, nonspherocytic hemolytic 'anemia, nonspherocytic hemolytic' SubClassOf 'congenital nonspherocytic hemolytic anemia' 'anemia, nonspherocytic hemolytic' SubClassOf 'congenital nonspherocytic hemolytic anemia' http://purl.obolibrary.org/obo/MONDO_0000104 anemia, hypochromic microcytic with iron overload 'anemia, hypochromic microcytic with iron overload' SubClassOf 'hypochromic microcytic anemia (disease)' 'anemia, hypochromic microcytic with iron overload' SubClassOf 'hypochromic microcytic anemia (disease)' 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://purl.obolibrary.org/obo/MONDO_0000110 bifid nose 'bifid nose' SubClassOf 'hereditary connective tissue disorder' http://www.ebi.ac.uk/efo/EFO_0009913 ossifying fibroma of the jaw 'ossifying fibroma of the jaw' SubClassOf 'mouth neoplasm' http://purl.obolibrary.org/obo/MONDO_0000119 congenital heart defects, multiple types 'congenital heart defects, multiple types' SubClassOf 'congenital heart disease' 'congenital heart defects, multiple types' SubClassOf 'congenital heart disease' http://www.orpha.net/ORDO/Orphanet_261796 Partial deletion of chromosome 7 'Partial deletion of chromosome 7' SubClassOf 'syndrome caused by partial chromosomal deletion' http://purl.obolibrary.org/obo/MONDO_0000129 glutaric aciduria (disease) 'glutaric aciduria (disease)' SubClassOf 'nutritional or metabolic disease' http://www.orpha.net/ORDO/Orphanet_261791 Partial deletion of chromosome 6 'Partial deletion of chromosome 6' SubClassOf 'syndrome caused by partial chromosomal deletion' http://purl.obolibrary.org/obo/MONDO_0000137 leukoencephalopathy, megalencephalic 'leukoencephalopathy, megalencephalic' SubClassOf 'brain disease' 'leukoencephalopathy, megalencephalic' SubClassOf 'brain disease' http://www.orpha.net/ORDO/Orphanet_261776 Partial deletion of chromosome 3 'Partial deletion of chromosome 3' SubClassOf 'syndrome caused by partial chromosomal deletion' http://www.orpha.net/ORDO/Orphanet_199351 Adult-onset dystonia-parkinsonism 'Adult-onset dystonia-parkinsonism' SubClassOf 'Persistent combined dystonia' 'Adult-onset dystonia-parkinsonism' SubClassOf 'Persistent combined dystonia' http://www.orpha.net/ORDO/Orphanet_261786 Partial deletion of chromosome 5 'Partial deletion of chromosome 5' SubClassOf 'syndrome caused by partial chromosomal deletion' 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://www.orpha.net/ORDO/Orphanet_261781 Partial deletion of chromosome 4 'Partial deletion of chromosome 4' SubClassOf 'syndrome caused by partial chromosomal deletion' http://purl.obolibrary.org/obo/MONDO_0000148 pulmonary fibrosis and/or bone marrow failure, telomere-related 'pulmonary fibrosis and/or bone marrow failure, telomere-related' SubClassOf 'bone marrow disease' 'pulmonary fibrosis and/or bone marrow failure, telomere-related' SubClassOf 'pulmonary fibrosis' 'pulmonary fibrosis and/or bone marrow failure, telomere-related' SubClassOf 'bone marrow disease' 'pulmonary fibrosis and/or bone marrow failure, telomere-related' SubClassOf 'pulmonary fibrosis' http://www.ebi.ac.uk/efo/EFO_0007301 Hepadnaviridae infectious disease 'Hepadnaviridae infectious disease' SubClassOf 'viral disease' 'Hepadnaviridae infectious disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100329 http://www.orpha.net/ORDO/Orphanet_261766 Partial deletion of chromosome 1 'Partial deletion of chromosome 1' SubClassOf 'syndrome caused by partial chromosomal deletion' http://www.ebi.ac.uk/efo/EFO_0007306 herpangina 'herpangina' SubClassOf 'coxsackievirus infectious disease' 'herpangina' SubClassOf 'viral disease' http://www.ebi.ac.uk/efo/EFO_0007305 hepatitis A virus infection 'hepatitis A virus infection' SubClassOf 'Picornaviridae infectious disease' http://www.ebi.ac.uk/efo/EFO_0007304 hepatitis D virus infection 'hepatitis D virus infection' SubClassOf 'hepatitis B virus infection' 'hepatitis D virus infection' SubClassOf 'viral human hepatitis infection' 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_0007309 Herpesviridae infectious disease 'Herpesviridae infectious disease' SubClassOf 'viral disease' 'Herpesviridae infectious disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100329 http://www.ebi.ac.uk/efo/EFO_0007307 Herpes simplex virus gingivostomatitis 'Herpes simplex virus gingivostomatitis' SubClassOf 'digestive system infectious disease' http://www.orpha.net/ORDO/Orphanet_261771 Partial deletion of chromosome 2 'Partial deletion of chromosome 2' SubClassOf 'syndrome caused by partial chromosomal deletion' http://purl.obolibrary.org/obo/MONDO_0000159 bone marrow failure syndrome 'bone marrow failure syndrome' SubClassOf 'bone marrow disease' 'bone marrow failure syndrome' SubClassOf 'bone marrow disease' 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_210571 Dystonia 16 'Dystonia 16' SubClassOf 'parkinsonian syndrome due to neurodegenerative disease' 'Dystonia 16' SubClassOf 'parkinsonian syndrome due to neurodegenerative disease' 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 '2p21 microdeletion syndrome' 'Hypotonia - cystinuria syndrome' SubClassOf 'syndrome caused by partial chromosomal deletion' 'Hypotonia - cystinuria syndrome' SubClassOf 'Homozygous 2p21 microdeletion syndrome' 'Hypotonia - cystinuria syndrome' SubClassOf 'Hypotonia - cystinuria type 1' http://www.orpha.net/ORDO/Orphanet_163693 2p21 microdeletion syndrome '2p21 microdeletion syndrome' SubClassOf 'Hypotonia - cystinuria syndrome' '2p21 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 2' '2p21 microdeletion syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 2' '2p21 microdeletion syndrome' SubClassOf 'Genetic renal tubular disease' '2p21 microdeletion syndrome' SubClassOf 'Disorder of amino acid absorption and transport' '2p21 microdeletion syndrome' SubClassOf 'inborn mitochondrial metabolism disorder' http://www.orpha.net/ORDO/Orphanet_163634 Maffucci syndrome 'Maffucci syndrome' SubClassOf 'genetic vascular tumor' 'Maffucci syndrome' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Maffucci syndrome' SubClassOf 'Genetic skin vascular disorder' 'Maffucci syndrome' SubClassOf 'Genetic vascular anomaly' 'Maffucci syndrome' SubClassOf 'hereditary connective tissue 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 'Mosaic trisomy 3' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700065 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' 'pulmonary capillary' SubClassOf 'part of' some 'respiratory system' 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_99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria 'Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_99647 Cheirospondyloenchondromatosis 'Cheirospondyloenchondromatosis' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Cheirospondyloenchondromatosis' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Cheirospondyloenchondromatosis' SubClassOf 'Primary bone dysplasia' 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/MONDO_0014629 autoimmune interstitial lung disease-arthritis syndrome 'autoimmune interstitial lung disease-arthritis syndrome' SubClassOf 'secondary glomerular disease' 'autoimmune interstitial lung disease-arthritis syndrome' SubClassOf 'secondary interstitial lung disease specific to childhood associated with a systemic disease' 'autoimmune interstitial lung disease-arthritis syndrome' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'autoimmune interstitial lung disease-arthritis syndrome' SubClassOf 'genetic disorder' 'autoimmune interstitial lung disease-arthritis syndrome' SubClassOf 'respiratory system disease' 'autoimmune interstitial lung disease-arthritis syndrome' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0000009 inherited bleeding disorder, platelet-type 'inherited bleeding disorder, platelet-type' SubClassOf 'blood platelet disease' 'inherited bleeding disorder, platelet-type' SubClassOf 'blood platelet disease' http://purl.obolibrary.org/obo/MONDO_0000015 classic complement early component deficiency 'classic complement early component deficiency' SubClassOf 'complement deficiency' 'classic complement early component deficiency' SubClassOf 'complement deficiency' http://purl.obolibrary.org/obo/MONDO_0000014 colorblindness, partial 'colorblindness, partial' SubClassOf 'Color-vision disease' 'colorblindness, partial' SubClassOf 'Color-vision disease' http://purl.obolibrary.org/obo/MONDO_0000030 epilepsy, nocturnal frontal lobe 'epilepsy, nocturnal frontal lobe' SubClassOf 'frontal lobe epilepsy' 'epilepsy, nocturnal frontal lobe' SubClassOf 'frontal lobe epilepsy' http://www.orpha.net/ORDO/Orphanet_75501 Ehlers-Danlos syndrome, fibronectinemic type 'Ehlers-Danlos syndrome, fibronectinemic type' SubClassOf 'hemorrhagic disorder due to a platelet anomaly' http://purl.obolibrary.org/obo/UBERON_0004363 pharyngeal arch artery 'pharyngeal arch artery' SubClassOf 'part of' some 'embryo' 'pharyngeal arch artery' SubClassOf 'part of' some 'head' http://www.orpha.net/ORDO/Orphanet_329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy 'Congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'Congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' http://purl.obolibrary.org/obo/MONDO_0002516 digestive system cancer 'digestive system cancer' SubClassOf 'digestive system disease' http://www.ebi.ac.uk/efo/EFO_0007502 subacute sclerosing panencephalitis 'subacute sclerosing panencephalitis' SubClassOf 'measles' http://purl.obolibrary.org/obo/MONDO_0014518 platelet-type bleeding disorder 19 'platelet-type bleeding disorder 19' SubClassOf 'inherited bleeding disorder, platelet-type' 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 system disease' 'Trichomonas vaginitis' SubClassOf 'urinary tract infection' http://www.ebi.ac.uk/efo/EFO_0007513 Togaviridae infectious disease 'Togaviridae infectious disease' SubClassOf 'viral disease' 'Togaviridae infectious disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100329 http://www.ebi.ac.uk/efo/EFO_0007541 viral pneumonia 'viral pneumonia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100329 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' 'urinary schistosomiasis' SubClassOf 'urinary tract infection' http://www.ebi.ac.uk/efo/EFO_0007538 viral encephalitis 'viral encephalitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100329 http://purl.obolibrary.org/obo/UBERON_0001132 parathyroid gland 'parathyroid gland' SubClassOf 'part of' some 'endocrine system' http://www.orpha.net/ORDO/Orphanet_83473 Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus 'Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus' SubClassOf 'Polydactyly' 'Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus' SubClassOf 'Polydactyly' http://www.orpha.net/ORDO/Orphanet_71493 Familial thrombocytosis 'Familial thrombocytosis' SubClassOf 'thrombotic disorder due to a platelet anomaly' http://www.ebi.ac.uk/efo/EFO_1001501 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 'pulmonary fibrosis and/or bone marrow failure, telomere-related, 1' SubClassOf 'idiopathic pulmonary fibrosis' http://www.ebi.ac.uk/efo/EFO_1001502 rasopathy 'rasopathy' SubClassOf 'genetic disorder' 'rasopathy' SubClassOf 'genetic disorder' 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.orpha.net/ORDO/Orphanet_95428 COG8-CDG 'COG8-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'COG8-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' http://www.orpha.net/ORDO/Orphanet_95429 Angioma serpiginosum 'Angioma serpiginosum' SubClassOf 'genetic vascular tumor' 'Angioma serpiginosum' SubClassOf 'Genetic vascular anomaly' 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_0001153 caecum 'caecum' SubClassOf 'part of' some 'large intestine' http://purl.obolibrary.org/obo/UBERON_0001154 vermiform appendix 'vermiform appendix' SubClassOf 'part of' some 'caecum' 'vermiform appendix' SubClassOf 'part of' some 'large intestine' http://www.ebi.ac.uk/efo/EFO_0011054 metabolic toxicity 'metabolic toxicity' SubClassOf 'nutritional or metabolic disease' http://www.orpha.net/ORDO/Orphanet_166113 Bazex syndrome 'Bazex syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Bazex syndrome' SubClassOf 'genetic skin disease' 'Bazex syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 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_166100 Stickler syndrome type 3 'Stickler syndrome type 3' SubClassOf 'Pierre Robin syndrome associated with collagen disease' 'Stickler syndrome type 3' SubClassOf 'disease has feature' some 'collagenopathy' 'Stickler syndrome type 3' SubClassOf 'Pierre Robin syndrome associated with collagen disease' http://www.orpha.net/ORDO/Orphanet_2645 Osteoglophonic dwarfism 'Osteoglophonic dwarfism' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Osteoglophonic dwarfism' SubClassOf 'musculoskeletal system disease' 'Osteoglophonic dwarfism' SubClassOf 'genetic disorder' 'Osteoglophonic dwarfism' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' http://www.orpha.net/ORDO/Orphanet_2658 Lenz-Majewski hyperostotic dwarfism 'Lenz-Majewski hyperostotic dwarfism' SubClassOf 'Primary bone dysplasia with increased bone density' 'Lenz-Majewski hyperostotic dwarfism' SubClassOf 'Primary bone dysplasia with increased bone density' http://www.orpha.net/ORDO/Orphanet_2655 Thanatophoric dysplasia 'Thanatophoric dysplasia' SubClassOf 'Primary bone dysplasia with micromelia' 'Thanatophoric dysplasia' SubClassOf 'Primary bone dysplasia with micromelia' http://www.orpha.net/ORDO/Orphanet_168796 Heart-hand syndrome, Slovenian type 'Heart-hand syndrome, Slovenian type' SubClassOf 'Syndrome associated with dilated cardiomyopathy' 'Heart-hand syndrome, Slovenian type' SubClassOf 'Syndrome associated with dilated cardiomyopathy' 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 'part of' some 'multicellular organism' http://purl.obolibrary.org/obo/UBERON_0003663 hindlimb muscle 'hindlimb muscle' SubClassOf 'part of' some 'hindlimb' 'hindlimb muscle' SubClassOf 'part of' some 'limb' 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://www.ebi.ac.uk/efo/EFO_0001668 human papilloma virus infection 'human papilloma virus infection' SubClassOf 'viral disease' 'human papilloma virus infection' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100329 http://purl.obolibrary.org/obo/MONDO_0022736 occupational lung disease 'occupational lung disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100366 http://www.orpha.net/ORDO/Orphanet_2596 Myopathy and diabetes mellitus 'Myopathy and diabetes mellitus' SubClassOf 'diabetes mellitus' 'Myopathy and diabetes mellitus' SubClassOf 'diabetes mellitus' http://www.orpha.net/ORDO/Orphanet_2590 Hereditary myoclonus - progressive distal muscular atrophy 'Hereditary myoclonus - progressive distal muscular atrophy' SubClassOf 'Rare genetic tremor disorder' 'Hereditary myoclonus - progressive distal muscular atrophy' SubClassOf 'movement disorder' 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 'Rare genetic systemic or rheumatologic disease' '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.orpha.net/ORDO/Orphanet_2515 Microcephaly - cardiomyopathy 'Microcephaly - cardiomyopathy' SubClassOf 'Syndrome associated with dilated cardiomyopathy' 'Microcephaly - cardiomyopathy' SubClassOf 'Syndrome associated with dilated cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_83639 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency 'Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency' SubClassOf 'thrombotic disorder due to a coagulation factors defect' 'Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency' SubClassOf 'neurovascular disease' http://www.orpha.net/ORDO/Orphanet_2801 Juvenile Paget disease 'Juvenile Paget disease' SubClassOf 'Primary bone dysplasia with increased bone density' 'Juvenile Paget disease' SubClassOf 'Primary bone dysplasia with increased bone density' http://www.ebi.ac.uk/efo/EFO_1001322 Eye Foreign Bodies 'Eye Foreign Bodies' SubClassOf 'has_disease_location' some ('eye' or ('part of' some 'eye')) 'Eye Foreign Bodies' SubClassOf 'foreign body' 'Eye Foreign Bodies' EquivalentTo 'foreign body' and ('has_disease_location' some ('eye' or ('part of' some 'eye'))) http://www.ebi.ac.uk/efo/EFO_1001320 Exanthema Subitum 'Exanthema Subitum' SubClassOf 'Roseolovirus infectious disease' 'Exanthema Subitum' SubClassOf 'viral disease' http://www.orpha.net/ORDO/Orphanet_83628 PELVIS syndrome 'PELVIS syndrome' SubClassOf 'neurovascular disease' 'PELVIS syndrome' SubClassOf 'genetic vascular tumor' 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://www.ebi.ac.uk/efo/EFO_1001357 Lentivirus Infections 'Lentivirus Infections' SubClassOf 'viral disease' 'Lentivirus Infections' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100329 http://www.ebi.ac.uk/efo/EFO_1001361 localised scleroderma 'localised scleroderma' SubClassOf 'Genetic peripheral neuropathy' http://www.ebi.ac.uk/efo/EFO_1001380 Niemann-Pick disease 'Niemann-Pick disease' SubClassOf 'Rare genetic systemic or rheumatologic disease' http://purl.obolibrary.org/obo/UBERON_2001051 caudal division of the internal carotid artery '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 'part of' some 'head' http://www.ebi.ac.uk/efo/EFO_1001309 Encephalitis, Tick-Borne 'Encephalitis, Tick-Borne' SubClassOf 'Flaviviridae infectious disease' 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_262119 Partial deletion of the long arm of chromosome 15 'Partial deletion of the long arm of chromosome 15' SubClassOf 'syndrome caused by partial chromosomal deletion' http://purl.obolibrary.org/obo/MONDO_0020012 systemic or rheumatic disease 'systemic or rheumatic disease' SubClassOf 'disease' http://www.orpha.net/ORDO/Orphanet_262110 Partial deletion of the long arm of chromosome 14 'Partial deletion of the long arm of chromosome 14' SubClassOf 'syndrome caused by partial chromosomal deletion' http://www.orpha.net/ORDO/Orphanet_262101 Partial deletion of the long arm of chromosome 13 'Partial deletion of the long arm of chromosome 13' SubClassOf 'syndrome caused by partial chromosomal deletion' http://www.ebi.ac.uk/efo/EFO_1001278 Brown-Pearce carcinoma 'Brown-Pearce carcinoma' SubClassOf 'animal disease' 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://www.ebi.ac.uk/efo/EFO_1001284 capillary leak syndrome 'capillary leak syndrome' SubClassOf 'systemic 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_0020078 acute myeloid leukemia with recurrent genetic anomaly 'acute myeloid leukemia with recurrent genetic anomaly' SubClassOf 'bilineal acute myeloid leukemia' 'acute myeloid leukemia with recurrent genetic anomaly' SubClassOf 'acute leukemia of ambiguous lineage' 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.ebi.ac.uk/efo/EFO_1001298 Coxa Vara 'Coxa Vara' SubClassOf 'hereditary connective tissue disorder' 'Coxa Vara' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_46724 Cerebral arteriovenous malformation 'Cerebral arteriovenous malformation' SubClassOf 'genetic vascular tumor' 'Cerebral arteriovenous malformation' SubClassOf 'Genetic vascular anomaly' http://www.orpha.net/ORDO/Orphanet_313947 2q23.1 microduplication syndrome '2q23.1 microduplication syndrome' SubClassOf 'congenital nervous system disorder' '2q23.1 microduplication syndrome' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_178333 Åland Islands eye disease 'Åland Islands eye disease' SubClassOf 'Retinal dystrophy' 'Åland Islands eye disease' SubClassOf 'Retinal dystrophy' 'Åland Islands eye disease' SubClassOf 'retinopathy' 'Åland Islands eye disease' SubClassOf 'X-linked disease' http://www.orpha.net/ORDO/Orphanet_2828 Young adult-onset Parkinsonism 'Young adult-onset Parkinsonism' SubClassOf 'parkinsonian syndrome due to neurodegenerative disease' http://purl.obolibrary.org/obo/MONDO_0019098 autoimmune thrombocytopenia 'autoimmune thrombocytopenia' SubClassOf 'hemorrhagic disorder due to a platelet anomaly' http://www.orpha.net/ORDO/Orphanet_2849 Perlman syndrome 'Perlman syndrome' SubClassOf 'kidney neoplasm' http://www.orpha.net/ORDO/Orphanet_2867 Short stature, Brussels type 'Short stature, Brussels type' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Short stature, Brussels type' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Short stature, Brussels type' SubClassOf 'genetic disorder' 'Short stature, Brussels type' SubClassOf 'musculoskeletal system disease' 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://www.ebi.ac.uk/efo/EFO_1001479 Tumor Lysis Syndrome 'Tumor Lysis Syndrome' SubClassOf 'nutritional or metabolic disease' 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 'part of' some 'respiratory system' http://purl.obolibrary.org/obo/UBERON_0003464 hindlimb bone 'hindlimb bone' SubClassOf 'part of' some 'limb' 'hindlimb bone' SubClassOf 'part of' some 'hindlimb' http://www.orpha.net/ORDO/Orphanet_2790 Autosomal dominant osteosclerosis, Worth type 'Autosomal dominant osteosclerosis, Worth type' SubClassOf 'Primary bone dysplasia with increased bone density' 'Autosomal dominant osteosclerosis, Worth type' SubClassOf 'Primary bone dysplasia with increased bone density' 'Autosomal dominant osteosclerosis, Worth type' SubClassOf 'bone disease' 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_166277 Suarez-Stickler syndrome 'Suarez-Stickler syndrome' SubClassOf 'Malformative syndrome with dentinogenesis imperfecta' 'Suarez-Stickler syndrome' SubClassOf 'Primary bone dysplasia with decreased bone density' 'Suarez-Stickler syndrome' SubClassOf 'musculoskeletal system disease' 'Suarez-Stickler syndrome' SubClassOf 'genetic disorder' 'Suarez-Stickler syndrome' SubClassOf 'Malformative syndrome with dentinogenesis imperfecta' 'Suarez-Stickler syndrome' SubClassOf 'Primary bone dysplasia with decreased bone density' http://www.orpha.net/ORDO/Orphanet_166265 Dentinogenesis imperfecta type 3 'Dentinogenesis imperfecta type 3' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_166260 Dentinogenesis imperfecta type 2 'Dentinogenesis imperfecta type 2' SubClassOf 'genetic 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_2750 Orofaciodigital syndrome type 1 'Orofaciodigital syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700092 http://www.orpha.net/ORDO/Orphanet_2760 OSLAM syndrome 'OSLAM syndrome' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_2767 Carpotarsal osteochondromatosis 'Carpotarsal osteochondromatosis' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Carpotarsal osteochondromatosis' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Carpotarsal osteochondromatosis' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_2762 Progressive osseous heteroplasia 'Progressive osseous heteroplasia' SubClassOf 'Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments' 'Progressive osseous heteroplasia' SubClassOf 'Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments' http://www.orpha.net/ORDO/Orphanet_2772 Congenital osteogenesis imperfecta - microcephaly - cataracts 'Congenital osteogenesis imperfecta - microcephaly - cataracts' SubClassOf 'Primary bone dysplasia with decreased bone density' 'Congenital osteogenesis imperfecta - microcephaly - cataracts' SubClassOf 'Primary bone dysplasia with decreased bone density' 'Congenital osteogenesis imperfecta - microcephaly - cataracts' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_2771 Bruck syndrome 'Bruck syndrome' SubClassOf 'Primary bone dysplasia with decreased bone density' 'Bruck syndrome' SubClassOf 'Rare genetic odontologic disease' 'Bruck syndrome' SubClassOf 'Primary bone dysplasia with decreased bone density' http://www.orpha.net/ORDO/Orphanet_2779 Osteopathia striata - pigmentary dermopathy - white forelock 'Osteopathia striata - pigmentary dermopathy - white forelock' SubClassOf 'Primary bone dysplasia with increased bone density' 'Osteopathia striata - pigmentary dermopathy - white forelock' SubClassOf 'Primary bone dysplasia with increased bone density' http://www.orpha.net/ORDO/Orphanet_2781 Osteopetrosis 'Osteopetrosis' SubClassOf 'Primary bone dysplasia with increased bone density' 'Osteopetrosis' SubClassOf 'Primary bone dysplasia with increased bone density' http://www.orpha.net/ORDO/Orphanet_2788 Osteoporosis - pseudoglioma 'Osteoporosis - pseudoglioma' SubClassOf 'Primary bone dysplasia with decreased bone density' 'Osteoporosis - pseudoglioma' SubClassOf 'Primary bone dysplasia with decreased bone density' http://www.orpha.net/ORDO/Orphanet_2787 Osteoporosis - macrocephaly - blindness - joint hyperlaxity 'Osteoporosis - macrocephaly - blindness - joint hyperlaxity' SubClassOf 'Primary bone dysplasia with decreased bone density' 'Osteoporosis - macrocephaly - blindness - joint hyperlaxity' SubClassOf 'Primary bone dysplasia with decreased bone density' 'Osteoporosis - macrocephaly - blindness - joint hyperlaxity' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_2786 Osteoporosis - oculocutaneous hypopigmentation syndrome 'Osteoporosis - oculocutaneous hypopigmentation syndrome' SubClassOf 'Primary bone dysplasia with decreased bone density' 'Osteoporosis - oculocutaneous hypopigmentation syndrome' SubClassOf 'genetic disorder' 'Osteoporosis - oculocutaneous hypopigmentation syndrome' SubClassOf 'musculoskeletal system disease' 'Osteoporosis - oculocutaneous hypopigmentation syndrome' SubClassOf 'Primary bone dysplasia with decreased bone density' http://www.orpha.net/ORDO/Orphanet_2710 Oculodentodigital dysplasia 'Oculodentodigital dysplasia' SubClassOf 'Primary bone dysplasia with increased bone density' 'Oculodentodigital dysplasia' SubClassOf 'Ectodermal malformation syndrome associated with ocular features' 'Oculodentodigital dysplasia' SubClassOf 'Primary bone dysplasia with increased bone density' 'Oculodentodigital dysplasia' SubClassOf 'Ectodermal malformation syndrome associated with ocular features' 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.orpha.net/ORDO/Orphanet_178509 Perry syndrome 'Perry syndrome' SubClassOf 'parkinsonian syndrome due to neurodegenerative disease' 'Perry syndrome' SubClassOf 'parkinsonian syndrome due to neurodegenerative disease' 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://www.ebi.ac.uk/efo/EFO_1001110 pituitary-dependent Cushing's disease 'ACTH-independent Cushing syndrome' DisjointWith 'pituitary-dependent Cushing's disease' http://purl.obolibrary.org/obo/UBERON_0001540 peroneal artery '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_1001139 pulpitis 'pulpitis' SubClassOf 'digestive system infectious disease' 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_97678 Maternal uniparental disomy of chromosome 13 'Maternal uniparental disomy of chromosome 13' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700086 http://www.orpha.net/ORDO/Orphanet_97685 17q11 microdeletion syndrome '17q11 microdeletion syndrome' SubClassOf 'syndrome caused by partial chromosomal deletion' http://www.orpha.net/ORDO/Orphanet_2157 Histidinemia 'Histidinemia' SubClassOf 'histidine metabolism disease' http://www.orpha.net/ORDO/Orphanet_2237 Hypoparathyroidism - deafness - renal disease 'Hypoparathyroidism - deafness - renal disease' SubClassOf 'syndrome caused by partial chromosomal deletion' 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_2255 Pancreatic hypoplasia - diabetes - congenital heart disease 'Pancreatic hypoplasia - diabetes - congenital heart disease' SubClassOf 'diabetes mellitus' 'Pancreatic hypoplasia - diabetes - congenital heart disease' SubClassOf 'diabetes mellitus' 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_2267 Ichthyosis-cheek-eyebrow syndrome 'Ichthyosis-cheek-eyebrow syndrome' SubClassOf 'Autosomal ichthyosis syndrome with other associated signs' 'Ichthyosis-cheek-eyebrow syndrome' SubClassOf 'Autosomal ichthyosis syndrome with other associated signs' http://www.orpha.net/ORDO/Orphanet_2204 Dysplastic cortical hyperostosis 'Dysplastic cortical hyperostosis' SubClassOf 'Primary bone dysplasia with increased bone density' 'Dysplastic cortical hyperostosis' SubClassOf 'Primary bone dysplasia with increased bone density' http://www.orpha.net/ORDO/Orphanet_2209 Maternal hyperphenylalaninemia 'Maternal hyperphenylalaninemia' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_2229 Dilated cardiomyopathy - hypergonadotropic hypogonadism 'Dilated cardiomyopathy - hypergonadotropic hypogonadism' SubClassOf 'Syndrome associated with dilated cardiomyopathy' 'Dilated cardiomyopathy - hypergonadotropic hypogonadism' SubClassOf 'endocrine system disease' 'Dilated cardiomyopathy - hypergonadotropic hypogonadism' SubClassOf 'male reproductive system disease' 'Dilated cardiomyopathy - hypergonadotropic hypogonadism' SubClassOf 'heart disease' 'Dilated cardiomyopathy - hypergonadotropic hypogonadism' SubClassOf 'has modifier' some 'rare' 'Dilated cardiomyopathy - hypergonadotropic hypogonadism' SubClassOf 'Syndrome associated with dilated cardiomyopathy' http://www.ebi.ac.uk/efo/EFO_1001032 malignant lymphatic vessel tumor 'malignant lymphatic vessel tumor' SubClassOf 'lymphatic system disease' http://www.ebi.ac.uk/efo/EFO_1001042 mesenchymoma 'mesenchymoma' SubClassOf 'cancer' http://www.ebi.ac.uk/efo/EFO_1001047 mouth disease 'mouth disease' SubClassOf 'disease by anatomical system' http://www.ebi.ac.uk/efo/EFO_1001063 noma 'noma' SubClassOf 'digestive system infectious disease' 'noma' SubClassOf 'aphthous ulcer' 'noma' SubClassOf 'aphthous ulcer' 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_1001099 perinephritis 'perinephritis' SubClassOf 'connective tissue disease' 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_0001423 radius bone 'radius bone' SubClassOf 'part of' some 'forelimb' 'radius bone' SubClassOf 'part of' some 'limb' 'radius bone' SubClassOf 'part of' some 'forelimb zeugopod' http://purl.obolibrary.org/obo/UBERON_0001446 fibula 'fibula' SubClassOf 'part of' some 'limb' 'fibula' SubClassOf 'part of' some 'hindlimb' http://www.ebi.ac.uk/efo/EFO_1001257 acute erythroblastic leukemia 'acute erythroblastic leukemia' SubClassOf 'acute leukemia of ambiguous lineage' 'acute erythroblastic leukemia' SubClassOf 'bilineal acute myeloid leukemia' http://purl.obolibrary.org/obo/UBERON_0001450 calcaneus 'calcaneus' SubClassOf 'part of' some 'limb' 'calcaneus' SubClassOf 'part of' some 'tarsal region' 'calcaneus' SubClassOf 'part of' some 'pes' 'calcaneus' SubClassOf 'part of' some 'hindlimb' http://www.orpha.net/ORDO/Orphanet_2078 Geroderma osteodysplastica 'Geroderma osteodysplastica' SubClassOf 'Primary bone dysplasia with decreased bone density' 'Geroderma osteodysplastica' SubClassOf 'Primary bone dysplasia with decreased bone density' http://www.orpha.net/ORDO/Orphanet_2077 German syndrome 'German syndrome' SubClassOf 'Milroy disease' http://www.orpha.net/ORDO/Orphanet_2097 Grant syndrome 'Grant syndrome' SubClassOf 'Primary bone dysplasia with decreased bone density' 'Grant syndrome' SubClassOf 'genetic disorder' 'Grant syndrome' SubClassOf 'Primary bone dysplasia with decreased bone density' http://www.orpha.net/ORDO/Orphanet_2092 Focal dermal hypoplasia 'Focal dermal hypoplasia' SubClassOf 'Connective tissue disease with eye involvement' 'Focal dermal hypoplasia' SubClassOf 'Connective tissue disease with eye involvement' http://www.orpha.net/ORDO/Orphanet_2128 Hemihypertrophy 'Hemihypertrophy' SubClassOf 'Macroglossia' 'Hemihypertrophy' SubClassOf 'Macroglossia' http://www.orpha.net/ORDO/Orphanet_2131 Alternating hemiplegia of childhood 'Alternating hemiplegia of childhood' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700092 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 'arm' 'biceps brachii' SubClassOf 'part of' some 'limb' 'biceps brachii' SubClassOf 'part of' some 'forelimb' 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_1001160 rheumatic fever 'rheumatic fever' SubClassOf 'systemic disease' 'rheumatic fever' SubClassOf 'skeletal system disease' 'rheumatic fever' SubClassOf 'skeletal system disease' http://www.ebi.ac.uk/efo/EFO_1001175 secondary Parkinson disease 'secondary Parkinson disease' SubClassOf 'disease shares features of' some 'Parkinson's disease' 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 '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 'part of' some 'head' http://www.orpha.net/ORDO/Orphanet_184 Cherubism 'Cherubism' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Cherubism' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' http://purl.obolibrary.org/obo/UBERON_0001359 cerebrospinal fluid 'cerebrospinal fluid' SubClassOf 'anatomical structure' http://www.orpha.net/ORDO/Orphanet_192 Coffin-Lowry syndrome 'Coffin-Lowry syndrome' SubClassOf 'hereditary connective tissue disorder' 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 'leg' 'biceps femoris' SubClassOf 'part of' some 'hindlimb stylopod' 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://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' 'Beckwith-Wiedemann syndrome' SubClassOf 'Syndrome associated with hypertrophic cardiomyopathy' 'Beckwith-Wiedemann syndrome' SubClassOf 'familial hypertrophic cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_114 Auriculoosteodysplasia 'Auriculoosteodysplasia' SubClassOf 'Primary bone dysplasia with multiple joint dislocations' 'Auriculoosteodysplasia' SubClassOf 'Primary bone dysplasia with multiple joint dislocations' 'Auriculoosteodysplasia' SubClassOf 'musculoskeletal system disease' http://www.orpha.net/ORDO/Orphanet_113 Bazex-Dupré-Christol syndrome 'Bazex-Dupré-Christol syndrome' SubClassOf 'Congenital absence of the eyebrow/eyelashes' 'Bazex-Dupré-Christol syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 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' 'CHILD syndrome' SubClassOf 'hereditary connective tissue disorder' 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 'cerebral cortex' 'primary motor cortex' SubClassOf 'part of' some 'neocortex' http://purl.obolibrary.org/obo/UBERON_0001385 tibialis anterior 'tibialis anterior' SubClassOf 'part of' some 'leg' http://www.orpha.net/ORDO/Orphanet_71289 Radio-ulnar synostosis - amegakaryocytic thrombocytopenia 'Radio-ulnar synostosis - amegakaryocytic thrombocytopenia' SubClassOf 'Rare hemorrhagic disorder due to a constitutional thrombocytopenia' http://purl.obolibrary.org/obo/MONDO_0000819 anencephaly 'anencephaly' SubClassOf 'Rare genetic neurological disorder' http://purl.obolibrary.org/obo/MONDO_0000824 congenital diarrhea 'congenital diarrhea' SubClassOf 'diarrheal disease' 'congenital diarrhea' SubClassOf 'diarrheal disease' http://purl.obolibrary.org/obo/MONDO_0000828 juvenile-onset Parkinson disease 'juvenile-onset Parkinson disease' SubClassOf 'Parkinson's disease' 'juvenile-onset Parkinson disease' SubClassOf 'Young adult-onset Parkinsonism' http://www.orpha.net/ORDO/Orphanet_357001 19p13.13 microdeletion syndrome '19p13.13 microdeletion syndrome' SubClassOf 'syndrome caused by partial chromosomal deletion' http://www.orpha.net/ORDO/Orphanet_178 Chordoma 'Chordoma' SubClassOf 'Genetic endocrine tumor' 'Chordoma' SubClassOf 'hereditary connective tissue disorder' http://purl.obolibrary.org/obo/MONDO_0000845 fibrous dysplasia 'fibrous dysplasia' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' http://www.orpha.net/ORDO/Orphanet_2499 Metachondromatosis 'Metachondromatosis' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Metachondromatosis' SubClassOf 'genetic disorder' 'Metachondromatosis' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 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/HP_0025095 Sneeze 'Sneeze' SubClassOf 'Abnormality of the respiratory system' 'Sneeze' SubClassOf 'Constitutional symptom' http://purl.obolibrary.org/obo/UBERON_0001238 lamina propria of small intestine 'lamina propria of small intestine' SubClassOf 'part of' some 'small intestine' 'lamina propria of small intestine' SubClassOf 'part of' some 'alimentary part of gastrointestinal system' http://purl.obolibrary.org/obo/UBERON_0003894 liver primordium 'liver primordium' SubClassOf 'part of' some 'embryo' 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_0003849 mesencephalic neural crest 'mesencephalic neural crest' SubClassOf 'part of' some 'embryo' http://www.orpha.net/ORDO/Orphanet_213517 Familial ovarian cancer 'Familial ovarian cancer' SubClassOf 'ovarian carcinoma' 'Familial ovarian cancer' SubClassOf 'ovarian cancer' http://www.ebi.ac.uk/efo/EFO_1001006 Klinefelter's syndrome 'Klinefelter's syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700065 http://purl.obolibrary.org/obo/UBERON_0003851 diencephalon neural crest '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' 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://www.orpha.net/ORDO/Orphanet_2274 Ichthyosis - hepatosplenomegaly - cerebellar degeneration 'Ichthyosis - hepatosplenomegaly - cerebellar degeneration' SubClassOf 'Autosomal ichthyosis syndrome with other associated signs' 'Ichthyosis - hepatosplenomegaly - cerebellar degeneration' SubClassOf 'Autosomal ichthyosis syndrome with other associated signs' http://www.orpha.net/ORDO/Orphanet_2272 Ichthyosis - oral and digital anomalies 'Ichthyosis - oral and digital anomalies' SubClassOf 'Autosomal ichthyosis syndrome with other associated signs' 'Ichthyosis - oral and digital anomalies' SubClassOf 'Autosomal ichthyosis syndrome with other associated signs' http://www.orpha.net/ORDO/Orphanet_2278 Ichthyosis - intellectual disability - dwarfism - renal impairment 'Ichthyosis - intellectual disability - dwarfism - renal impairment' SubClassOf 'Autosomal ichthyosis syndrome with other associated signs' 'Ichthyosis - intellectual disability - dwarfism - renal impairment' SubClassOf 'Autosomal ichthyosis syndrome with other associated signs' http://www.orpha.net/ORDO/Orphanet_2287 Fused mandibular incisors 'Fused mandibular incisors' SubClassOf 'Rare genetic odontologic disease' 'Fused mandibular incisors' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/UBERON_0001277 intestinal epithelium 'intestinal epithelium' SubClassOf 'part of' some 'intestine' 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_0000721 xanthinuria 'xanthinuria' SubClassOf 'nutritional or metabolic disease' 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_2371 Lethal Larsen-like syndrome 'Lethal Larsen-like syndrome' SubClassOf 'Primary bone dysplasia with multiple joint dislocations' 'Lethal Larsen-like syndrome' SubClassOf 'Primary bone dysplasia with multiple joint dislocations' http://www.orpha.net/ORDO/Orphanet_2370 Larsen-like osseous dysplasia - short stature 'Larsen-like osseous dysplasia - short stature' SubClassOf 'Primary bone dysplasia with multiple joint dislocations' 'Larsen-like osseous dysplasia - short stature' SubClassOf 'Primary bone dysplasia with multiple joint dislocations' 'Larsen-like osseous dysplasia - short stature' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_2379 Early-onset parkinsonism - intellectual disability 'Early-onset parkinsonism - intellectual disability' SubClassOf 'parkinsonian syndrome due to neurodegenerative disease' 'Early-onset parkinsonism - intellectual disability' SubClassOf 'parkinsonian syndrome due to neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_2380 Legg-Calvé-Perthes disease 'Legg-Calvé-Perthes disease' SubClassOf 'collagenopathy type 2 alpha 1' 'Legg-Calvé-Perthes disease' SubClassOf 'Type 2 collagen-related bone disorder' 'Legg-Calvé-Perthes disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044988 'Legg-Calvé-Perthes disease' SubClassOf 'disease has feature' some 'osteonecrosis' 'Legg-Calvé-Perthes disease' SubClassOf 'Type 2 collagen-related bone disorder' http://purl.obolibrary.org/obo/MONDO_0000774 autoimmune neuropathy 'autoimmune neuropathy' SubClassOf 'autoimmune disease of peripheral nervous system' 'autoimmune neuropathy' SubClassOf 'peripheral neuropathy' http://www.orpha.net/ORDO/Orphanet_2324 Kaler-Garrity-Stern syndrome 'Kaler-Garrity-Stern syndrome' SubClassOf 'Primary bone dysplasia with decreased bone density' 'Kaler-Garrity-Stern syndrome' SubClassOf 'Primary bone dysplasia with decreased bone density' 'Kaler-Garrity-Stern syndrome' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_2340 Keratosis follicularis spinulosa decalvans 'Keratosis follicularis spinulosa decalvans' SubClassOf 'keratosis' 'Keratosis follicularis spinulosa decalvans' SubClassOf 'folliculitis' 'Keratosis follicularis spinulosa decalvans' SubClassOf 'keratosis' 'Keratosis follicularis spinulosa decalvans' SubClassOf 'folliculitis' 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 'part of' some 'embryo' http://purl.obolibrary.org/obo/MONDO_0010122 congenital thrombotic thrombocytopenic purpura 'congenital thrombotic thrombocytopenic purpura' SubClassOf 'thrombotic disorder due to a platelet anomaly' http://www.orpha.net/ORDO/Orphanet_254351 Distal 7q11.23 microdeletion syndrome 'Distal 7q11.23 microdeletion syndrome' SubClassOf 'syndrome caused by partial chromosomal deletion' http://www.orpha.net/ORDO/Orphanet_293948 1p21.3 microdeletion syndrome '1p21.3 microdeletion syndrome' SubClassOf 'congenital nervous system disorder' '1p21.3 microdeletion syndrome' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_217346 19q13.11 microdeletion syndrome '19q13.11 microdeletion syndrome' SubClassOf 'syndrome caused by partial chromosomal deletion' http://www.orpha.net/ORDO/Orphanet_379 Chronic granulomatous disease 'Chronic granulomatous disease' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Chronic granulomatous disease' SubClassOf 'inflammatory disease' 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_183524 Rare genetic bone disease 'Rare genetic bone disease' SubClassOf 'hereditary connective tissue disorder' 'Rare genetic bone disease' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_183527 Genetic bone tumor 'Genetic bone tumor' SubClassOf 'bone neoplasm' 'Genetic bone tumor' SubClassOf 'hereditary connective tissue disorder' '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_405 Familial hypocalciuric hypercalcemia 'Familial hypocalciuric hypercalcemia' SubClassOf 'Primary bone dysplasia with defective bone mineralization' 'Familial hypocalciuric hypercalcemia' SubClassOf 'endocrine system disease' 'Familial hypocalciuric hypercalcemia' SubClassOf 'Primary bone dysplasia with defective bone mineralization' 'Familial hypocalciuric hypercalcemia' SubClassOf 'endocrine system disease' 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_417 Neonatal severe primary hyperparathyroidism 'Neonatal severe primary hyperparathyroidism' SubClassOf 'Primary bone dysplasia with defective bone mineralization' 'Neonatal severe primary hyperparathyroidism' SubClassOf 'bone neoplasm' 'Neonatal severe primary hyperparathyroidism' SubClassOf 'Primary bone dysplasia with defective bone mineralization' 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://www.orpha.net/ORDO/Orphanet_436 Hypophosphatasia 'Hypophosphatasia' SubClassOf 'Primary bone dysplasia with defective bone mineralization' 'Hypophosphatasia' SubClassOf 'Primary bone dysplasia with defective bone mineralization' http://www.orpha.net/ORDO/Orphanet_429 Hypochondroplasia 'Hypochondroplasia' SubClassOf 'Primary bone dysplasia with micromelia' 'Hypochondroplasia' SubClassOf 'Primary bone dysplasia with micromelia' http://www.orpha.net/ORDO/Orphanet_452 X-linked lissencephaly with abnormal genitalia 'X-linked lissencephaly with abnormal genitalia' SubClassOf 'Lissencephaly' 'X-linked lissencephaly with abnormal genitalia' SubClassOf 'Lissencephaly' http://purl.obolibrary.org/obo/UBERON_2005103 presumptive ventral fin fold 'presumptive ventral fin fold' SubClassOf 'part of' some 'embryo' 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_0032900 neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements 'neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements' SubClassOf 'genetic disorder' 'neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements' SubClassOf 'Rare genetic neurological disorder' 'neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700092 http://www.orpha.net/ORDO/Orphanet_293822 MITF-related melanoma and renal cell carcinoma predisposition syndrome 'MITF-related melanoma and renal cell carcinoma predisposition syndrome' SubClassOf 'predisposes towards' some 'cutaneous melanoma' 'MITF-related melanoma and renal cell carcinoma predisposition syndrome' SubClassOf 'inherited disease susceptibility' 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/MONDO_0032921 neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation 'neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation' SubClassOf 'genetic disorder' 'neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700092 'neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_225 Maternally-inherited diabetes and deafness 'Maternally-inherited diabetes and deafness' SubClassOf 'diabetes mellitus' 'Maternally-inherited diabetes and deafness' SubClassOf 'diabetes mellitus' http://purl.obolibrary.org/obo/UBERON_6001059 insect visual primordium 'insect visual primordium' SubClassOf 'part of' some 'embryo' http://purl.obolibrary.org/obo/MONDO_0032943 neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies 'neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies' SubClassOf 'genetic disorder' 'neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies' SubClassOf 'Rare genetic neurological disorder' 'neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700092 http://purl.obolibrary.org/obo/MONDO_0032942 neurodevelopmental disorder with microcephaly and dysmorphic facies 'neurodevelopmental disorder with microcephaly and dysmorphic facies' SubClassOf 'genetic disorder' 'neurodevelopmental disorder with microcephaly and dysmorphic facies' SubClassOf 'Rare genetic neurological disorder' 'neurodevelopmental disorder with microcephaly and dysmorphic facies' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700092 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_245 Nager syndrome 'Nager syndrome' SubClassOf 'Pierre Robin syndrome associated with branchial archs anomalies' 'Nager syndrome' SubClassOf 'Pierre Robin syndrome associated with branchial archs anomalies' http://www.orpha.net/ORDO/Orphanet_242 46,XY complete gonadal dysgenesis '46,XY complete gonadal dysgenesis' SubClassOf 'Syndrome associated with hypertrophic cardiomyopathy' '46,XY complete gonadal dysgenesis' SubClassOf 'Syndrome associated with hypertrophic cardiomyopathy' '46,XY complete gonadal dysgenesis' SubClassOf 'familial hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0017370 autoinflammatory syndrome with skin involvement 'autoinflammatory syndrome with skin involvement' SubClassOf 'disease has feature' some 'skin disease' http://www.orpha.net/ORDO/Orphanet_274 Bernard-Soulier syndrome 'Bernard-Soulier syndrome' SubClassOf 'inherited bleeding disorder, platelet-type' http://www.orpha.net/ORDO/Orphanet_273 Steinert myotonic dystrophy 'Steinert myotonic dystrophy' SubClassOf 'Syndrome associated with hypertrophic cardiomyopathy' 'Steinert myotonic dystrophy' SubClassOf 'Syndrome associated with hypertrophic cardiomyopathy' 'Steinert myotonic dystrophy' SubClassOf 'familial hypertrophic cardiomyopathy' 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://purl.obolibrary.org/obo/MONDO_0044991 upper digestive tract disease 'upper digestive tract disease' SubClassOf 'digestive system disease' 'upper digestive tract disease' SubClassOf 'disease by anatomical system' http://purl.obolibrary.org/obo/MONDO_0017368 systemic disease with skin involvement 'systemic disease with skin involvement' SubClassOf 'disease has feature' some 'skin disease' 'systemic disease with skin involvement' EquivalentTo 'systemic disease' and ('disease has feature' some 'skin disease') 'systemic disease with skin involvement' SubClassOf 'systemic disease' 'systemic disease with skin involvement' SubClassOf 'skin disease' http://www.orpha.net/ORDO/Orphanet_287 Ehlers-Danlos syndrome, classic type 'Ehlers-Danlos syndrome, classic type' SubClassOf 'Rare genetic odontologic disease' http://www.orpha.net/ORDO/Orphanet_281 Monosomy 5p 'Monosomy 5p' SubClassOf 'syndrome caused by partial chromosomal deletion' http://www.orpha.net/ORDO/Orphanet_280 Wolf-Hirschhorn syndrome 'Wolf-Hirschhorn syndrome' SubClassOf 'syndrome caused by partial chromosomal deletion' http://www.orpha.net/ORDO/Orphanet_296 Enchondromatosis 'Enchondromatosis' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Enchondromatosis' SubClassOf 'Primary bone dysplasia' 'Enchondromatosis' SubClassOf 'bone neoplasm' 'Enchondromatosis' SubClassOf 'hereditary connective tissue disorder' 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 'anatomical entity' 'medial geniculate body' SubClassOf 'anatomical structure' http://purl.obolibrary.org/obo/UBERON_0001929 supraoptic nucleus 'supraoptic nucleus' SubClassOf 'anatomical entity' 'supraoptic nucleus' SubClassOf 'part of' some 'brain' 'supraoptic nucleus' SubClassOf 'anatomical structure' http://purl.obolibrary.org/obo/UBERON_0001930 paraventricular nucleus of hypothalamus 'paraventricular nucleus of hypothalamus' SubClassOf 'anatomical entity' 'paraventricular nucleus of hypothalamus' SubClassOf 'anatomical structure' 'paraventricular nucleus of hypothalamus' SubClassOf 'part of' some 'brain' http://www.ebi.ac.uk/efo/EFO_0005950 head and neck neoplasia 'head and neck neoplasia' EquivalentTo 'neoplasm' and ('has_disease_location' some ('head' or ('part of' some 'head'))) 'head and neck neoplasia' EquivalentTo 'neoplasm' and ('has_disease_location' some ('neck' or ('part of' some 'neck'))) '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 '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 'part of' some 'head' 'primordial midbrain channel' SubClassOf 'part of' some 'vasculature of head' http://www.orpha.net/ORDO/Orphanet_308 Unverricht-Lundborg disease 'Unverricht-Lundborg disease' SubClassOf 'Rare genetic tremor disorder' 'Unverricht-Lundborg disease' SubClassOf 'movement disorder' http://www.orpha.net/ORDO/Orphanet_321 Multiple osteochondromas 'Multiple osteochondromas' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Multiple osteochondromas' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_337 Fibrodysplasia ossificans progressiva 'Fibrodysplasia ossificans progressiva' SubClassOf 'Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments' 'Fibrodysplasia ossificans progressiva' SubClassOf 'has modifier' some 'rare' 'Fibrodysplasia ossificans progressiva' SubClassOf 'Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments' 'Fibrodysplasia ossificans progressiva' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_331 Congenital factor XIII deficiency 'Congenital factor XIII deficiency' SubClassOf 'Inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_330 Congenital factor XII deficiency 'Congenital factor XII deficiency' SubClassOf 'thrombotic disorder due to a coagulation factors defect' 'Congenital factor XII deficiency' SubClassOf 'Rare genetic coagulation disorder' 'Congenital factor XII deficiency' SubClassOf 'Rare genetic coagulation disorder' 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 'part of' some 'vasculature of head' 'nasal vein' SubClassOf 'part of' some 'head' http://purl.obolibrary.org/obo/UBERON_0001946 inferior colliculus 'inferior colliculus' SubClassOf 'part of' some 'midbrain tectum' 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' 'Hereditary pheochromocytoma-paraganglioma' SubClassOf http://www.ebi.ac.uk/efo/EFO_0020005 http://purl.obolibrary.org/obo/UBERON_0001976 epithelium of esophagus 'epithelium of esophagus' SubClassOf 'part of' some 'esophagus' http://purl.obolibrary.org/obo/MONDO_0007859 palmoplantar keratoderma i, striate, focal, or diffuse 'palmoplantar keratoderma i, striate, focal, or diffuse' SubClassOf 'striate palmoplantar keratoderma' 'palmoplantar keratoderma i, striate, focal, or diffuse' SubClassOf 'Hereditary palmoplantar keratoderma' 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 'Congenital disorder of glycosylation with neurological involvement' 'Muscle-eye-brain disease' SubClassOf 'Qualitative or quantitative defects of FKRP' 'Muscle-eye-brain disease' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' '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://www.orpha.net/ORDO/Orphanet_217595 Syndrome associated with hypertrophic cardiomyopathy 'Syndrome associated with hypertrophic cardiomyopathy' SubClassOf 'familial hypertrophic cardiomyopathy' 'Syndrome associated with hypertrophic cardiomyopathy' SubClassOf 'syndromic disease' 'Syndrome associated with hypertrophic cardiomyopathy' EquivalentTo 'syndromic disease' and ('has modifier' some 'inherited') and ('disease has feature' some 'hypertrophic cardiomyopathy') 'Syndrome associated with hypertrophic cardiomyopathy' SubClassOf 'disease has feature' some 'hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0020841 neurodevelopmental disorder with cerebellar atrophy and with or without seizures 'neurodevelopmental disorder with cerebellar atrophy and with or without seizures' SubClassOf 'genetic disorder' 'neurodevelopmental disorder with cerebellar atrophy and with or without seizures' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700092 'neurodevelopmental disorder with cerebellar atrophy and with or without seizures' SubClassOf 'Rare genetic neurological disorder' http://purl.obolibrary.org/obo/UBERON_0011189 lamina propria of large intestine 'lamina propria of large intestine' SubClassOf 'part of' some 'large intestine' 'lamina propria of large intestine' SubClassOf 'part of' some 'alimentary part of gastrointestinal system' http://purl.obolibrary.org/obo/MONDO_0017260 systemic diseases with posterior uveitis 'systemic diseases with posterior uveitis' EquivalentTo 'systemic disease' and ('disease has feature' some 'choroiditis') 'systemic diseases with posterior uveitis' SubClassOf 'disease has feature' some 'choroiditis' 'systemic diseases with posterior uveitis' SubClassOf 'systemic diseases with panuveitis' 'systemic diseases with posterior uveitis' SubClassOf 'posterior uveitis' http://purl.obolibrary.org/obo/MONDO_0017259 systemic diseases with anterior uveitis 'systemic diseases with anterior uveitis' EquivalentTo 'systemic disease' and ('disease has feature' some 'anterior uveitis') 'systemic diseases with anterior uveitis' SubClassOf 'disease has feature' some 'anterior uveitis' 'systemic diseases with anterior uveitis' SubClassOf 'systemic disease' 'systemic diseases with anterior uveitis' SubClassOf 'anterior uveitis' http://purl.obolibrary.org/obo/MONDO_0032894 neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy 'neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy' SubClassOf 'genetic disorder' 'neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700092 'neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_171695 Parkinsonian-pyramidal syndrome 'Parkinsonian-pyramidal syndrome' SubClassOf 'Young adult-onset Parkinsonism' 'Parkinsonian-pyramidal syndrome' SubClassOf 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' 'Parkinsonian-pyramidal syndrome' SubClassOf 'predisposes towards' some 'Young adult-onset Parkinsonism' 'Parkinsonian-pyramidal syndrome' SubClassOf 'Parkinson's disease' http://purl.obolibrary.org/obo/MONDO_0032888 neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies 'neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies' SubClassOf 'genetic disorder' 'neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700092 'neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies' SubClassOf 'Rare genetic neurological disorder' http://purl.obolibrary.org/obo/MONDO_0032889 Poirier-Bienvenu neurodevelopmental syndrome 'Poirier-Bienvenu neurodevelopmental syndrome' SubClassOf 'genetic disorder' 'Poirier-Bienvenu neurodevelopmental syndrome' SubClassOf 'Rare genetic neurological disorder' 'Poirier-Bienvenu neurodevelopmental syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700092 http://purl.obolibrary.org/obo/MONDO_0032887 neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity 'neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity' SubClassOf 'genetic disorder' 'neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity' SubClassOf 'Rare genetic neurological disorder' 'neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700092 http://purl.obolibrary.org/obo/MONDO_0017261 systemic diseases with panuveitis 'systemic diseases with panuveitis' SubClassOf 'systemic disease' 'systemic diseases with panuveitis' SubClassOf 'disease has feature' some 'panuveitis' 'systemic diseases with panuveitis' EquivalentTo 'systemic disease' and ('disease has feature' some 'panuveitis') 'systemic diseases with panuveitis' SubClassOf 'panuveitis' 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://purl.obolibrary.org/obo/MONDO_0017292 well-differentiated fetal adenocarcinoma of the lung 'well-differentiated fetal adenocarcinoma of the lung' SubClassOf 'bronchopulmonary tumor' http://www.orpha.net/ORDO/Orphanet_32960 Tumor necrosis factor receptor 1 associated periodic syndrome 'Tumor necrosis factor receptor 1 associated periodic syndrome' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_628 Diastrophic dwarfism 'Diastrophic dwarfism' SubClassOf 'Primary bone dysplasia with micromelia' 'Diastrophic dwarfism' SubClassOf 'Primary bone dysplasia with micromelia' 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://www.orpha.net/ORDO/Orphanet_643 Giant axonal neuropathy 'Giant axonal neuropathy' SubClassOf 'axonal neuropathy' 'Giant axonal neuropathy' SubClassOf 'axonal neuropathy' http://purl.obolibrary.org/obo/MONDO_0044889 high grade B-cell lymphoma 'high grade B-cell lymphoma' SubClassOf 'high grade malignant neoplasm' 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_666 Osteogenesis imperfecta 'Osteogenesis imperfecta' SubClassOf 'Primary bone dysplasia with decreased bone density' 'Osteogenesis imperfecta' SubClassOf 'Primary bone dysplasia with decreased bone density' http://www.orpha.net/ORDO/Orphanet_679 Malignant atrophic papulosis 'Malignant atrophic papulosis' SubClassOf 'systemic disease' 'Malignant atrophic papulosis' SubClassOf 'Rare genetic systemic or rheumatologic disease' http://www.orpha.net/ORDO/Orphanet_678 Papillon-Lefèvre syndrome 'Papillon-Lefèvre syndrome' SubClassOf 'Rare genetic odontologic disease' http://www.orpha.net/ORDO/Orphanet_676 Hereditary chronic pancreatitis 'Hereditary chronic pancreatitis' SubClassOf 'diabetes mellitus' 'Hereditary chronic pancreatitis' SubClassOf 'diabetes mellitus' 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 http://purl.obolibrary.org/obo/MONDO_0005247 DisjointWith 'parasitic infection' http://www.ebi.ac.uk/efo/EFO_0001069 nutritional disorder 'nutritional disorder' SubClassOf 'nutritional or metabolic disease' 'nutritional disorder' SubClassOf 'disease' 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://www.ebi.ac.uk/efo/EFO_0001054 leprosy 'leprosy' SubClassOf 'peripheral neuropathy' http://www.orpha.net/ORDO/Orphanet_352649 Brain dopamine-serotonin vesicular transport disease 'Brain dopamine-serotonin vesicular transport disease' SubClassOf 'Persistent combined dystonia' 'Brain dopamine-serotonin vesicular transport disease' SubClassOf 'Persistent combined dystonia' 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 'anatomical entity' 'frontal cortex' SubClassOf 'anatomical structure' http://purl.obolibrary.org/obo/UBERON_0001886 choroid plexus 'choroid plexus' SubClassOf 'part of' some 'circulatory system' http://purl.obolibrary.org/obo/UBERON_0001882 nucleus accumbens 'nucleus accumbens' SubClassOf 'part of' some 'brain' 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_0001896 medulla oblongata 'medulla oblongata' SubClassOf 'part of' some 'hindbrain' http://www.orpha.net/ORDO/Orphanet_93921 Neurofibromatosis type 3 'Neurofibromatosis type 3' SubClassOf 'skin carcinoma' 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 'part of' some 'head' http://www.orpha.net/ORDO/Orphanet_91131 DK1-CDG 'DK1-CDG' SubClassOf 'Autosomal ichthyosis syndrome with other associated signs' 'DK1-CDG' SubClassOf 'Autosomal ichthyosis syndrome with other associated signs' http://www.orpha.net/ORDO/Orphanet_91130 Cardiomyopathy - hypotonia - lactic acidosis 'Cardiomyopathy - hypotonia - lactic acidosis' SubClassOf 'Syndrome associated with hypertrophic cardiomyopathy' 'Cardiomyopathy - hypotonia - lactic acidosis' SubClassOf 'Syndrome associated with hypertrophic cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_464 Incontinentia pigmenti 'Incontinentia pigmenti' SubClassOf 'brain neoplasm' http://www.orpha.net/ORDO/Orphanet_477 KID syndrome 'KID syndrome' SubClassOf 'Autosomal ichthyosis syndrome with other associated signs' 'KID syndrome' SubClassOf 'Autosomal ichthyosis syndrome with other associated signs' http://www.orpha.net/ORDO/Orphanet_217467 Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency 'Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency' SubClassOf 'inherited thrombophilia' 'Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency' SubClassOf 'thrombotic disorder due to a coagulation factors defect' 'Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency' SubClassOf 'inherited thrombophilia' http://www.orpha.net/ORDO/Orphanet_485 Kniest dysplasia 'Kniest dysplasia' SubClassOf 'Pierre Robin syndrome associated with collagen disease' 'Kniest dysplasia' SubClassOf 'disease has feature' some 'collagenopathy' 'Kniest dysplasia' SubClassOf 'Pierre Robin syndrome associated with collagen disease' http://www.orpha.net/ORDO/Orphanet_411602 Hereditary late-onset Parkinson disease 'Hereditary late-onset Parkinson disease' SubClassOf 'parkinsonian syndrome due to neurodegenerative disease' 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_0020743 mixed phenotype acute leukemia 'mixed phenotype acute leukemia' SubClassOf 'acute myeloid leukemia' 'mixed phenotype acute leukemia' SubClassOf 'Inherited acute myeloid leukemia' 'mixed phenotype acute leukemia' SubClassOf 'bilineal acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0032755 neurodevelopmental disorder with or without variable brain abnormalities; NEDBA 'neurodevelopmental disorder with or without variable brain abnormalities; NEDBA' SubClassOf 'genetic disorder' 'neurodevelopmental disorder with or without variable brain abnormalities; NEDBA' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700092 'neurodevelopmental disorder with or without variable brain abnormalities; NEDBA' SubClassOf 'Rare genetic neurological disorder' 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 'Primary bone dysplasia with multiple joint dislocations' 'Autosomal dominant Larsen syndrome' SubClassOf 'developmental defect during embryogenesis' 'Autosomal dominant Larsen syndrome' SubClassOf 'Primary bone dysplasia with multiple joint dislocations' http://www.orpha.net/ORDO/Orphanet_501 Lafora disease 'Lafora disease' SubClassOf 'Rare genetic tremor disorder' 'Lafora disease' SubClassOf 'movement disorder' 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_505 Graham Little-Piccardi-Lassueur syndrome 'Graham Little-Piccardi-Lassueur syndrome' SubClassOf 'cutaneous lichen planus' 'Graham Little-Piccardi-Lassueur syndrome' SubClassOf 'lichen planus, familial' http://www.orpha.net/ORDO/Orphanet_538 Lymphangioleiomyomatosis 'Lymphangioleiomyomatosis' SubClassOf 'respiratory system neoplasm' http://www.orpha.net/ORDO/Orphanet_558 Marfan syndrome 'Marfan syndrome' SubClassOf 'Rare disease with thoracic aortic aneurysm and aortic dissection' 'Marfan syndrome' SubClassOf 'developmental defect during embryogenesis' 'Marfan syndrome' SubClassOf 'Lens position anomaly' 'Marfan syndrome' SubClassOf 'Syndromic myopia' 'Marfan syndrome' SubClassOf 'Syndromic keratoconus' 'Marfan syndrome' SubClassOf 'Connective tissue disease with eye involvement' 'Marfan syndrome' SubClassOf 'Rare disease with thoracic aortic aneurysm and aortic dissection' 'Marfan syndrome' SubClassOf 'syndromic disease' 'Marfan syndrome' SubClassOf 'Lens position anomaly' 'Marfan syndrome' SubClassOf 'Syndromic myopia' 'Marfan syndrome' SubClassOf 'Syndromic keratoconus' 'Marfan syndrome' SubClassOf 'Connective tissue disease with eye involvement' http://www.orpha.net/ORDO/Orphanet_552 MODY 'MODY' SubClassOf 'diabetes mellitus' 'MODY' SubClassOf 'diabetes mellitus' 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://www.orpha.net/ORDO/Orphanet_567 22q11.2 deletion syndrome '22q11.2 deletion syndrome' SubClassOf 'Pierre Robin syndrome associated with a chromosomal anomaly' '22q11.2 deletion syndrome' SubClassOf 'Pierre Robin syndrome associated with a chromosomal anomaly' '22q11.2 deletion syndrome' SubClassOf 'syndrome caused by partial chromosomal deletion' http://www.orpha.net/ORDO/Orphanet_562 McCune-Albright syndrome 'McCune-Albright syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'McCune-Albright syndrome' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'McCune-Albright syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'McCune-Albright syndrome' SubClassOf 'genetic disorder' 'McCune-Albright syndrome' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' http://www.orpha.net/ORDO/Orphanet_560 Marshall syndrome 'Marshall syndrome' SubClassOf 'Type 11 collagen-related bone disorder' 'Marshall syndrome' SubClassOf 'Type 11 collagen-related bone disorder' http://purl.obolibrary.org/obo/MONDO_0056797 neurodevelopmental disorder with midbrain and hindbrain malformations 'neurodevelopmental disorder with midbrain and hindbrain malformations' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700092 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 'anatomical entity' 'oculomotor nuclear complex' SubClassOf 'anatomical structure' 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://www.ebi.ac.uk/efo/EFO_0003900 ciliopathy 'ciliopathy' SubClassOf 'disease by cellular component affected' 'ciliopathy' SubClassOf 'disease of membrane bound organelle' 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://www.ebi.ac.uk/efo/EFO_1001986 connective tissue disease 'connective tissue disease' SubClassOf 'disease' 'connective tissue disease' SubClassOf 'disease' 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://www.ebi.ac.uk/efo/EFO_1001993 scleroderma 'scleroderma' SubClassOf 'systemic autoimmune disease' 'scleroderma' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'scleroderma' SubClassOf 'autoimmune disease with skin involvement' 'scleroderma' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_93256 Fragile X-associated tremor/ataxia syndrome 'Fragile X-associated tremor/ataxia syndrome' SubClassOf 'Rare genetic tremor disorder' 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.orpha.net/ORDO/Orphanet_93282 Spondyloepimetaphyseal dysplasia, Pakistani type 'Spondyloepimetaphyseal dysplasia, Pakistani type' SubClassOf 'genetic disorder' 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.orpha.net/ORDO/Orphanet_861 Treacher-Collins syndrome 'Treacher-Collins syndrome' SubClassOf 'Pierre Robin syndrome associated with branchial archs anomalies' 'Treacher-Collins syndrome' SubClassOf 'Pierre Robin syndrome associated with branchial archs anomalies' http://www.orpha.net/ORDO/Orphanet_8 47,XYY syndrome '47,XYY syndrome' SubClassOf 'syndromic disease' '47,XYY syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700065 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://www.orpha.net/ORDO/Orphanet_9 Tetrasomy X 'Tetrasomy X' SubClassOf 'tetrasomy' 'Tetrasomy X' SubClassOf 'tetrasomy' 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://www.orpha.net/ORDO/Orphanet_884 Tetrasomy 12p 'Tetrasomy 12p' SubClassOf 'tetrasomy' 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 'Rare genetic neurological disorder' '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' 'neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700092 http://purl.obolibrary.org/obo/MONDO_0032697 neurodevelopmental disorder and language delay with or without structural brain abnormalities 'neurodevelopmental disorder and language delay with or without structural brain abnormalities' SubClassOf 'genetic disorder' 'neurodevelopmental disorder and language delay with or without structural brain abnormalities' SubClassOf 'Rare genetic neurological disorder' 'neurodevelopmental disorder and language delay with or without structural brain abnormalities' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700092 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 'syndrome caused by partial chromosomal deletion' 'WAGR syndrome' SubClassOf 'kidney neoplasm' http://www.ebi.ac.uk/efo/EFO_0003890 drug dependence 'drug dependence' SubClassOf 'drug-induced mental disorder' 'drug dependence' SubClassOf 'mental or behavioural disorder' 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://purl.obolibrary.org/obo/MONDO_0030025 neurodevelopmental disorder with hypotonia, microcephaly, and seizures 'neurodevelopmental disorder with hypotonia, microcephaly, and seizures' SubClassOf 'genetic disorder' 'neurodevelopmental disorder with hypotonia, microcephaly, and seizures' SubClassOf 'Rare genetic neurological disorder' 'neurodevelopmental disorder with hypotonia, microcephaly, and seizures' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700092 http://purl.obolibrary.org/obo/MONDO_0030024 neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities 'neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities' SubClassOf 'genetic disorder' 'neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities' SubClassOf 'Rare genetic neurological disorder' 'neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700092 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://purl.obolibrary.org/obo/MONDO_0030046 neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity 'neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity' SubClassOf 'genetic disorder' 'neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700092 'neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity' SubClassOf 'Rare genetic neurological disorder' http://www.ebi.ac.uk/efo/EFO_1001928 small intestine neuroendocrine tumor 'small intestine neuroendocrine tumor' SubClassOf 'small intestine carcinoma' 'small intestine neuroendocrine tumor' SubClassOf 'small intestine neoplasm' 'small intestine neuroendocrine tumor' SubClassOf 'small intestine neoplasm' http://www.ebi.ac.uk/efo/EFO_1001936 adult T acute lymphoblastic leukemia 'adult T acute lymphoblastic leukemia' SubClassOf 'T-cell acute lymphoblastic leukemia' 'adult T acute lymphoblastic leukemia' SubClassOf 'T-cell leukemia' 'adult T acute lymphoblastic leukemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003540 http://www.ebi.ac.uk/efo/EFO_1001934 adult acute myeloid leukemia 'adult acute myeloid leukemia' SubClassOf 'acute leukemia of ambiguous lineage' 'adult acute myeloid leukemia' SubClassOf 'bilineal acute myeloid leukemia' http://www.ebi.ac.uk/efo/EFO_1001948 childhood T lymphoblastic lymphoma 'childhood T lymphoblastic lymphoma' SubClassOf 'Cutaneous T-cell lymphoma' http://purl.obolibrary.org/obo/MONDO_0030060 neurodevelopmental disorder with language impairment and behavioral abnormalities 'neurodevelopmental disorder with language impairment and behavioral abnormalities' SubClassOf 'genetic disorder' 'neurodevelopmental disorder with language impairment and behavioral abnormalities' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700092 'neurodevelopmental disorder with language impairment and behavioral abnormalities' SubClassOf 'Rare genetic neurological disorder' 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://purl.obolibrary.org/obo/MONDO_0030063 neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities 'neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities' SubClassOf 'genetic disorder' 'neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities' SubClassOf 'Rare genetic neurological disorder' 'neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700092 http://www.orpha.net/ORDO/Orphanet_56304 Atelosteogenesis type II 'Atelosteogenesis type II' SubClassOf 'Pierre Robin syndrome associated with bone disease' 'Atelosteogenesis type II' SubClassOf 'Pierre Robin syndrome associated with bone disease' http://www.orpha.net/ORDO/Orphanet_56305 Atelosteogenesis type III 'Atelosteogenesis type III' SubClassOf 'Primary bone dysplasia with multiple joint dislocations' 'Atelosteogenesis type III' SubClassOf 'Pierre Robin syndrome associated with bone disease' 'Atelosteogenesis type III' SubClassOf 'Primary bone dysplasia with multiple joint dislocations' 'Atelosteogenesis type III' SubClassOf 'Pierre Robin syndrome associated with bone disease' http://www.orpha.net/ORDO/Orphanet_806 Scott syndrome 'Scott syndrome' SubClassOf 'inherited bleeding disorder, platelet-type' 'Scott syndrome' SubClassOf 'hemorrhagic disorder due to a platelet anomaly' 'Scott syndrome' SubClassOf 'inherited bleeding disorder, platelet-type' 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_819 Smith-Magenis syndrome 'Smith-Magenis syndrome' SubClassOf 'syndrome caused by partial chromosomal deletion' http://www.orpha.net/ORDO/Orphanet_828 Stickler syndrome 'Stickler syndrome' SubClassOf 'Pierre Robin syndrome associated with collagen disease' 'Stickler syndrome' SubClassOf 'disease has feature' some 'collagenopathy' 'Stickler syndrome' SubClassOf 'Pierre Robin syndrome associated with collagen disease' http://www.orpha.net/ORDO/Orphanet_841 Sebocystomatosis 'Sebocystomatosis' SubClassOf 'sebaceous gland anomaly' http://purl.obolibrary.org/obo/HP_0001649 Tachycardia 'Tachycardia' SubClassOf 'Abnormality of cardiovascular system electrophysiology' 'Tachycardia' SubClassOf 'Ventricular arrhythmia' http://www.orpha.net/ORDO/Orphanet_2909 Rothmund-Thomson syndrome 'Rothmund-Thomson syndrome' SubClassOf 'Ectodermal malformation syndrome associated with ocular features' 'Rothmund-Thomson syndrome' SubClassOf 'Ectodermal malformation syndrome associated with ocular features' http://www.orpha.net/ORDO/Orphanet_313781 20p13 microdeletion syndrome '20p13 microdeletion syndrome' SubClassOf 'Rare genetic neurological disorder' '20p13 microdeletion syndrome' SubClassOf 'congenital nervous system disorder' '20p13 microdeletion syndrome' SubClassOf 'syndromic intellectual disability' 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' SubClassOf 'mouth 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 '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_0003829 alcohol dependence 'alcohol dependence' SubClassOf 'alcohol-induced mental disorder' 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' EquivalentTo 'neoplasm' and ('has_disease_location' some ('larynx' or ('part of' some 'larynx'))) 'laryngeal neoplasm' SubClassOf 'respiratory tract neoplasm' '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' EquivalentTo 'neoplasm' and ('has_disease_location' some ('ureter' or ('part of' some 'ureter'))) 'ureteral neoplasm' SubClassOf 'kidney neoplasm' '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://purl.obolibrary.org/obo/MONDO_0020529 ACTH-independent Cushing syndrome 'ACTH-independent Cushing syndrome' SubClassOf 'Cushing syndrome' 'ACTH-independent Cushing syndrome' DisjointWith 'pituitary-dependent Cushing's disease' http://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' SubClassOf 'endocrine neoplasm' 'pancreatic neoplasm' EquivalentTo 'neoplasm' and ('has_disease_location' some ('pancreas' or ('part of' some 'pancreas'))) '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.ebi.ac.uk/efo/EFO_0003857 arthrogryposis 'arthrogryposis' SubClassOf 'Rare genetic movement disorder' 'arthrogryposis' SubClassOf 'Rare genetic tremor disorder' 'arthrogryposis' SubClassOf 'movement disorder' 'arthrogryposis' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_745 Hereditary thrombophilia due to congenital protein C deficiency 'Hereditary thrombophilia due to congenital protein C deficiency' SubClassOf 'inherited thrombophilia' 'Hereditary thrombophilia due to congenital protein C deficiency' SubClassOf 'thrombotic disorder due to a coagulation factors defect' 'Hereditary thrombophilia due to congenital protein C deficiency' SubClassOf 'inherited thrombophilia' 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.orpha.net/ORDO/Orphanet_743 Hereditary thrombophilia due to congenital protein S deficiency 'Hereditary thrombophilia due to congenital protein S deficiency' SubClassOf 'thrombotic disorder due to a coagulation factors defect' 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_0003766 pain in abdomen 'pain in abdomen' SubClassOf 'pain' 'pain in abdomen' SubClassOf http://www.w3.org/2002/07/owl#Thing 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_754 Androgen insensitivity syndrome 'Androgen insensitivity syndrome' SubClassOf 'disease of receptor activity' 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_217622 Sensorineural deafness with dilated cardiomyopathy 'Sensorineural deafness with dilated cardiomyopathy' SubClassOf 'Syndrome associated with dilated cardiomyopathy' 'Sensorineural deafness with dilated cardiomyopathy' SubClassOf 'Syndrome associated with dilated cardiomyopathy' 'Sensorineural deafness with dilated cardiomyopathy' SubClassOf 'Familial dilated cardiomyopathy' http://www.ebi.ac.uk/efo/EFO_0003759 pervasive developmental disorder - not otherwise specified 'pervasive developmental disorder - not otherwise specified' SubClassOf 'autism spectrum disorder' 'pervasive developmental disorder - not otherwise specified' SubClassOf 'autism spectrum disorder' http://www.ebi.ac.uk/efo/EFO_0003780 Behcet's syndrome 'Behcet's syndrome' SubClassOf 'predominantly large-vessel vasculitis' 'Behcet's syndrome' SubClassOf 'systemic diseases with panuveitis' 'Behcet's syndrome' SubClassOf 'unclassified autoinflammatory syndrome' 'Behcet's syndrome' SubClassOf 'inflammatory and autoimmune disease with epilepsy' 'Behcet's syndrome' SubClassOf 'systemic diseases with posterior uveitis' 'Behcet's syndrome' SubClassOf 'systemic diseases with anterior uveitis' 'Behcet's syndrome' SubClassOf 'autoinflammatory syndrome with skin involvement' 'Behcet's syndrome' SubClassOf 'central nervous system vasculitis' 'Behcet's syndrome' SubClassOf 'secondary glomerular disease' 'Behcet's syndrome' SubClassOf 'kidney disease' 'Behcet's syndrome' SubClassOf 'epilepsy' 'Behcet's syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0020592 disease of pharynx 'disease of pharynx' SubClassOf 'digestive system disease' http://www.orpha.net/ORDO/Orphanet_758 Pseudoxanthoma elasticum 'Pseudoxanthoma elasticum' SubClassOf 'Connective tissue disease with eye involvement' 'Pseudoxanthoma elasticum' EquivalentTo 'pseudoxanthoma elasticum (inherited or acquired)' and ('has modifier' some 'inherited') 'Pseudoxanthoma elasticum' SubClassOf 'Connective tissue disease with eye involvement' http://www.ebi.ac.uk/efo/EFO_0003770 diabetic retinopathy 'diabetic retinopathy' SubClassOf 'nutritional or metabolic disease' http://www.orpha.net/ORDO/Orphanet_774 Hereditary hemorrhagic telangiectasia 'Hereditary hemorrhagic telangiectasia' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Hereditary hemorrhagic telangiectasia' SubClassOf 'systemic disease' http://www.orpha.net/ORDO/Orphanet_773 Refsum disease 'Refsum disease' SubClassOf 'Leukodystrophy' 'Refsum disease' SubClassOf 'Autosomal recessive metabolic cerebellar ataxia' '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 'Metabolic disease with pigmentary retinitis' '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 'Autosomal recessive metabolic cerebellar ataxia' 'Refsum disease' SubClassOf 'Disorder of peroxisomal alpha-, beta- and omega-oxidation' 'Refsum disease' SubClassOf 'Metabolic disease with pigmentary retinitis' 'Refsum disease' SubClassOf 'Autosomal ichthyosis syndrome with prominent neurologics signs' 'Refsum disease' SubClassOf '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_156237 Syndrome or malformation associated with head and neck malformations 'Syndrome or malformation associated with head and neck malformations' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_797 Sarcoidosis 'Sarcoidosis' SubClassOf 'systemic disease' 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.orpha.net/ORDO/Orphanet_156224 Paralytic facial malformation 'Paralytic facial malformation' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_171836 Amelogenesis imperfecta and gingival hyperplasia syndrome 'Amelogenesis imperfecta and gingival hyperplasia syndrome' SubClassOf 'Rare genetic odontologic disease' http://www.orpha.net/ORDO/Orphanet_156212 Hypoglossia/aglossia 'Hypoglossia/aglossia' SubClassOf 'hereditary connective tissue disorder' http://www.ebi.ac.uk/efo/EFO_0001193 HT-29 'HT-29' SubClassOf 'colonic cancer cell line' http://www.orpha.net/ORDO/Orphanet_156207 Macroglossia 'Macroglossia' SubClassOf 'hereditary connective tissue disorder' 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_722 Hypoplasminogenemia 'Hypoplasminogenemia' SubClassOf 'systemic disease' 'Hypoplasminogenemia' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Hypoplasminogenemia' SubClassOf 'Rare genetic systemic or rheumatologic disease' http://www.orpha.net/ORDO/Orphanet_721 Gray platelet syndrome 'Gray platelet syndrome' SubClassOf 'inherited bleeding disorder, platelet-type' 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.orpha.net/ORDO/Orphanet_93443 Neonatal osteosclerotic dysplasia 'Neonatal osteosclerotic dysplasia' SubClassOf 'Primary bone dysplasia with increased bone density' 'Neonatal osteosclerotic dysplasia' SubClassOf 'Primary bone dysplasia with increased bone density' http://www.orpha.net/ORDO/Orphanet_93422 Type 11 collagen-related bone disorder 'Type 11 collagen-related bone disorder' SubClassOf 'bone disease' 'Type 11 collagen-related bone disorder' SubClassOf 'collagenopathy' http://www.orpha.net/ORDO/Orphanet_93421 Type 2 collagen-related bone disorder 'Type 2 collagen-related bone disorder' SubClassOf 'hereditary connective tissue disorder' http://www.ebi.ac.uk/efo/EFO_1001760 aneurysmal bone cyst 'aneurysmal bone cyst' SubClassOf 'hereditary connective tissue disorder' 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 'Acute Leukemia' 'acute leukemia of ambiguous lineage' SubClassOf 'myeloid leukemia' 'acute leukemia of ambiguous lineage' SubClassOf 'Inherited acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0019457 therapy related acute myeloid leukemia and myelodysplastic syndrome 'therapy related acute myeloid leukemia and myelodysplastic syndrome' SubClassOf 'acute leukemia of ambiguous lineage' 'therapy related acute myeloid leukemia and myelodysplastic syndrome' SubClassOf 'bilineal acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0019471 adult T-cell leukemia/lymphoma 'adult T-cell leukemia/lymphoma' SubClassOf 'deltaretrovirus infections' 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_0019487 epilepsy with myoclonic absences 'epilepsy with myoclonic absences' SubClassOf 'Rare genetic tremor disorder' 'epilepsy with myoclonic absences' SubClassOf 'Rare genetic movement disorder' 'epilepsy with myoclonic absences' SubClassOf 'movement disorder' 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://www.orpha.net/ORDO/Orphanet_68367 Inborn errors of metabolism 'Inborn errors of metabolism' SubClassOf 'nutritional or metabolic disease' 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.orpha.net/ORDO/Orphanet_325529 Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency 'Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'male infertility' 'Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'male infertility' http://www.orpha.net/ORDO/Orphanet_93315 Spondylometaphyseal dysplasia, 'corner fracture' type 'Spondylometaphyseal dysplasia, 'corner fracture' type' SubClassOf 'Type 2 collagen-related bone disorder' 'Spondylometaphyseal dysplasia, 'corner fracture' type' SubClassOf 'Type 2 collagen-related bone disorder' 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' 'pulmonary arteriovenous malformation (disease)' SubClassOf 'genetic vascular tumor' 'pulmonary arteriovenous malformation (disease)' SubClassOf 'Genetic vascular anomaly' 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://purl.obolibrary.org/obo/MONDO_0007319 chondrocalcinosis 2 'chondrocalcinosis 2' SubClassOf 'Rare genetic systemic or rheumatologic disease' http://www.ebi.ac.uk/efo/EFO_1001875 amyloidosis 'amyloidosis' SubClassOf 'systemic disease' http://www.ebi.ac.uk/efo/EFO_0001422 cirrhosis of liver 'cirrhosis of liver' SubClassOf 'liver neoplasm' http://www.orpha.net/ORDO/Orphanet_93398 Genochondromatosis type 2 'Genochondromatosis type 2' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Genochondromatosis type 2' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' http://purl.obolibrary.org/obo/MONDO_0044306 neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination 'neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700092 http://www.orpha.net/ORDO/Orphanet_230839 Ehlers-Danlos syndrome due to tenascin-X deficiency 'Ehlers-Danlos syndrome due to tenascin-X deficiency' SubClassOf 'Rare genetic odontologic disease' http://purl.obolibrary.org/obo/MONDO_0044318 intellectual developmental disorder with gastrointestinal difficulties and high pain threshold 'intellectual developmental disorder with gastrointestinal difficulties and high pain threshold' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700092 http://www.orpha.net/ORDO/Orphanet_230857 Ehlers-Danlos/osteogenesis imperfecta syndrome 'Ehlers-Danlos/osteogenesis imperfecta syndrome' SubClassOf 'Primary bone dysplasia with decreased bone density' 'Ehlers-Danlos/osteogenesis imperfecta syndrome' SubClassOf 'Primary bone dysplasia with decreased bone density' http://www.ebi.ac.uk/efo/EFO_0001359 type I diabetes mellitus 'type I diabetes mellitus' SubClassOf 'autoimmune disease of gastrointestinal tract' 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 by anatomical system' 'endocrine system disease' SubClassOf 'disease by anatomical system' http://www.ebi.ac.uk/efo/EFO_1001806 macrophage activation syndrome 'macrophage activation syndrome' SubClassOf 'systemic disease' http://purl.obolibrary.org/obo/MONDO_0044326 developmental delay and seizures with or without movement abnormalities 'developmental delay and seizures with or without movement abnormalities' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700092 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_906 Wiskott-Aldrich syndrome 'Wiskott-Aldrich syndrome' SubClassOf 'Rare genetic coagulation disorder' http://www.orpha.net/ORDO/Orphanet_905 Wilson disease 'Wilson disease' SubClassOf 'Rare genetic tremor disorder' http://www.orpha.net/ORDO/Orphanet_904 Williams syndrome 'Williams syndrome' SubClassOf 'syndrome caused by partial chromosomal deletion' 'Williams syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700092 http://www.orpha.net/ORDO/Orphanet_902 Werner syndrome 'Werner syndrome' SubClassOf 'Ectodermal malformation syndrome associated with ocular features' 'Werner syndrome' SubClassOf 'Ectodermal malformation syndrome associated with ocular features' 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 'hereditary connective tissue disorder' 'Acroosteolysis dominant type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003157 http://purl.obolibrary.org/obo/MONDO_0015656 metabolic disease with epilepsy 'metabolic disease with epilepsy' SubClassOf 'nutritional or metabolic disease' http://www.ebi.ac.uk/efo/EFO_0006583 HNT-34 'HNT-34' SubClassOf 'cancer cell line' http://purl.obolibrary.org/obo/MONDO_0015667 acute myeloid leukemia by FAB classification 'acute myeloid leukemia by FAB classification' SubClassOf 'bilineal acute myeloid leukemia' 'acute myeloid leukemia by FAB classification' SubClassOf 'acute leukemia of ambiguous lineage' http://www.orpha.net/ORDO/Orphanet_174590 Congenital hypogonadotropic hypogonadism 'Congenital hypogonadotropic hypogonadism' SubClassOf 'male infertility' 'Congenital hypogonadotropic hypogonadism' SubClassOf 'male infertility' 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://www.orpha.net/ORDO/Orphanet_137608 Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus 'Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus' SubClassOf 'genetic vascular tumor' 'Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus' SubClassOf 'vascular neoplasm' 'Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus' SubClassOf 'Genetic vascular anomaly' http://www.ebi.ac.uk/efo/EFO_0006510 Herpes Zoster 'Herpes Zoster' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100330 http://www.orpha.net/ORDO/Orphanet_284993 Marfan and Marfan-related disorder 'Marfan and Marfan-related disorder' SubClassOf 'systemic disease' 'Marfan and Marfan-related disorder' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Marfan and Marfan-related disorder' SubClassOf 'hereditary connective tissue disorder' 'Marfan and Marfan-related disorder' SubClassOf 'Rare genetic systemic or rheumatologic disease' 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 'embryo' 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.orpha.net/ORDO/Orphanet_284979 Neonatal Marfan syndrome 'Neonatal Marfan syndrome' SubClassOf 'Marfan and Marfan-related disorder' 'Neonatal Marfan syndrome' SubClassOf 'Marfan syndrome' 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/MONDO_0015531 non-Langerhans cell histiocytosis 'non-Langerhans cell histiocytosis' SubClassOf 'systemic disease' http://purl.obolibrary.org/obo/UBERON_0009881 anterior lateral plate mesoderm 'anterior lateral plate mesoderm' SubClassOf 'part of' some 'embryo' http://purl.obolibrary.org/obo/UBERON_0007292 presumptive rhombomere 5 'presumptive rhombomere 5' SubClassOf 'part of' some 'embryo' http://purl.obolibrary.org/obo/UBERON_0007291 presumptive rhombomere 4 'presumptive rhombomere 4' SubClassOf 'part of' some 'embryo' http://purl.obolibrary.org/obo/UBERON_0007290 presumptive rhombomere 3 'presumptive rhombomere 3' SubClassOf 'part of' some 'embryo' http://purl.obolibrary.org/obo/UBERON_0007288 presumptive forebrain midbrain boundary 'presumptive forebrain midbrain boundary' SubClassOf 'part of' some 'embryo' http://purl.obolibrary.org/obo/UBERON_0007286 presumptive floor plate 'presumptive floor plate' SubClassOf 'part of' some 'embryo' http://purl.obolibrary.org/obo/UBERON_0007285 presumptive paraxial mesoderm 'presumptive paraxial mesoderm' SubClassOf 'part of' some 'embryo' http://purl.obolibrary.org/obo/UBERON_0007284 presumptive neural plate 'presumptive neural plate' SubClassOf 'part of' some 'embryo' http://purl.obolibrary.org/obo/UBERON_0007283 presumptive shield 'presumptive shield' SubClassOf 'part of' some 'embryo' http://purl.obolibrary.org/obo/UBERON_0007282 presumptive segmental plate 'presumptive segmental plate' SubClassOf 'part of' some 'embryo' http://purl.obolibrary.org/obo/UBERON_0007297 presumptive pronephric mesoderm 'presumptive pronephric mesoderm' SubClassOf 'part of' some 'embryo' http://purl.obolibrary.org/obo/UBERON_0007295 presumptive rhombomere 8 'presumptive rhombomere 8' SubClassOf 'part of' some 'embryo' http://purl.obolibrary.org/obo/UBERON_0007294 presumptive rhombomere 7 'presumptive rhombomere 7' SubClassOf 'part of' some 'embryo' http://purl.obolibrary.org/obo/UBERON_0007293 presumptive rhombomere 6 'presumptive rhombomere 6' SubClassOf 'part of' some 'embryo' http://www.ebi.ac.uk/efo/EFO_0006424 HCC1263 'HCC1263' SubClassOf 'colonic cancer cell line' http://www.orpha.net/ORDO/Orphanet_412206 Primary failure of tooth eruption 'Primary failure of tooth eruption' SubClassOf 'Rare genetic odontologic disease' 'Primary failure of tooth eruption' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/UBERON_0007250 lingual tonsil 'lingual tonsil' SubClassOf 'craniofacial tissue' 'lingual tonsil' SubClassOf 'part of' some 'tongue' http://purl.obolibrary.org/obo/UBERON_0007281 presumptive midbrain hindbrain boundary 'presumptive midbrain hindbrain boundary' SubClassOf 'part of' some 'embryo' http://purl.obolibrary.org/obo/UBERON_0007277 presumptive hindbrain 'presumptive hindbrain' SubClassOf 'part of' some 'embryo' http://www.ebi.ac.uk/efo/EFO_0004196 viral human hepatitis infection 'viral human hepatitis infection' SubClassOf 'viral disease' 'viral human hepatitis infection' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100329 http://purl.obolibrary.org/obo/MONDO_0003455 bile duct papillary neoplasm 'bile duct papillary neoplasm' SubClassOf 'benign digestive system neoplasm' 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_306750 Primary myoclonus 'Primary myoclonus' SubClassOf 'Rare genetic tremor disorder' 'Primary myoclonus' SubClassOf 'has modifier' some 'rare' 'Primary myoclonus' SubClassOf 'movement disorder' http://www.orpha.net/ORDO/Orphanet_208650 Cryopyrin-associated periodic syndrome 'Cryopyrin-associated periodic syndrome' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_306719 Neurodegenerative disease with chorea 'Neurodegenerative disease with chorea' SubClassOf 'Rare genetic tremor disorder' 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.orpha.net/ORDO/Orphanet_306768 Rare paroxysmal movement disorder 'Rare paroxysmal movement disorder' SubClassOf 'Rare genetic tremor disorder' http://www.orpha.net/ORDO/Orphanet_306765 Motor stereotypies 'Motor stereotypies' SubClassOf 'Rare genetic tremor disorder' 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 'part of' some 'embryo' 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_0015523 epithelioid hemangioendothelioma 'epithelioid hemangioendothelioma' SubClassOf 'genetic vascular tumor' 'epithelioid hemangioendothelioma' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0017956 mixed autoinflammatory and autoimmune syndrome 'mixed autoinflammatory and autoimmune syndrome' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'mixed autoinflammatory and autoimmune syndrome' SubClassOf 'hereditary connective tissue disorder' 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://purl.obolibrary.org/obo/MONDO_0017992 autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis 'autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis' SubClassOf 'hereditary connective tissue disorder' http://purl.obolibrary.org/obo/MONDO_0042973 familial osteosclerosis 'familial osteosclerosis' SubClassOf 'hereditary connective tissue disorder' 'familial osteosclerosis' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia 'Inclusion body myopathy with Paget disease of bone and frontotemporal dementia' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Inclusion body myopathy with Paget disease of bone and frontotemporal dementia' SubClassOf 'Frontotemporal dementia' 'Inclusion body myopathy with Paget disease of bone and frontotemporal dementia' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Inclusion body myopathy with Paget disease of bone and frontotemporal dementia' SubClassOf 'Frontotemporal dementia' 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 'part of' some 'embryo' http://www.orpha.net/ORDO/Orphanet_353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion 'Rubinstein-Taybi syndrome due to 16p13.3 microdeletion' SubClassOf 'Rubinstein-Taybi syndrome' 'Rubinstein-Taybi syndrome due to 16p13.3 microdeletion' SubClassOf 'syndrome caused by partial chromosomal deletion' 'Rubinstein-Taybi syndrome due to 16p13.3 microdeletion' SubClassOf http://purl.obolibrary.org/obo/MONDO_0022752 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_0015405 cerebrofacial arteriovenous metameric syndrome 'cerebrofacial arteriovenous metameric syndrome' SubClassOf 'genetic vascular tumor' 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_0054813 ehlers-danlos syndrome, classic-like, 2 'ehlers-danlos syndrome, classic-like, 2' SubClassOf 'Primary bone dysplasia with decreased bone density' 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/HP_0011999 Paranoia 'Paranoia' SubClassOf 'Behavioral abnormality' 'Paranoia' SubClassOf http://purl.obolibrary.org/obo/HP_0000746 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_0030703 autoimmune vasculitis 'autoimmune vasculitis' SubClassOf 'autoimmune disease of cardiovascular system' 'autoimmune vasculitis' SubClassOf 'hypersensitivity vasculitis' http://www.orpha.net/ORDO/Orphanet_231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700086 http://purl.obolibrary.org/obo/MONDO_0003122 striatonigral degeneration 'striatonigral degeneration' SubClassOf 'Rare genetic tremor disorder' 'striatonigral degeneration' SubClassOf 'Rare genetic movement disorder' http://purl.obolibrary.org/obo/MONDO_0015119 bronchopulmonary tumor 'bronchopulmonary tumor' SubClassOf 'has modifier' some 'rare' 'bronchopulmonary tumor' SubClassOf 'respiratory tract neoplasm' http://purl.obolibrary.org/obo/UBERON_0007610 tibial artery 'tibial artery' SubClassOf 'part of' some 'appendage' 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://purl.obolibrary.org/obo/MONDO_0015175 autoimmune pancreatitis 'autoimmune pancreatitis' SubClassOf 'autoimmune disease of gastrointestinal tract' http://www.ebi.ac.uk/efo/EFO_0006803 vasculitis 'vasculitis' SubClassOf 'systemic or rheumatic disease' 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.orpha.net/ORDO/Orphanet_280071 ALG11-CDG 'ALG11-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'ALG11-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 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_0004211 Hypertriglyceridemia 'Hypertriglyceridemia' SubClassOf 'nutritional or metabolic disease' 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_0006888 vascular malformation 'neoplasm' DisjointWith 'vascular malformation' 'vascular malformation' SubClassOf 'vascular anomaly' 'vascular malformation' SubClassOf 'congenital anomaly of cardiovascular system' 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://www.ebi.ac.uk/efo/EFO_0004256 neuromyelitis optica 'neuromyelitis optica' SubClassOf 'multiple sclerosis' 'neuromyelitis optica' SubClassOf 'multiple sclerosis variant' 'neuromyelitis optica' SubClassOf 'multiple sclerosis' 'neuromyelitis optica' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044685 'neuromyelitis optica' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/UBERON_0005068 neural rod 'neural rod' SubClassOf 'part of' some 'embryo' http://www.ebi.ac.uk/efo/EFO_0004246 mucocutaneous lymph node syndrome 'mucocutaneous lymph node syndrome' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0004276 Stevens-Johnson syndrome 'Stevens-Johnson syndrome' SubClassOf 'severe cutaneous adverse reaction' http://www.ebi.ac.uk/efo/EFO_0004274 gout 'gout' SubClassOf 'nutritional or metabolic 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://www.ebi.ac.uk/efo/EFO_0004261 osteitis deformans 'osteitis deformans' SubClassOf 'hereditary connective tissue disorder' 'osteitis deformans' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0004260 bone disease 'bone disease' SubClassOf 'connective tissue disease' 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_0015009 hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to 'hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to' SubClassOf 'genetic disorder' 'hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to' SubClassOf 'Milroy disease' 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_280325 Distal monosomy 12p 'Distal monosomy 12p' SubClassOf http://purl.obolibrary.org/obo/MONDO_0022174 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://www.orpha.net/ORDO/Orphanet_294939 Preaxial polydactyly of fingers 'Preaxial polydactyly of fingers' SubClassOf 'Polydactyly' 'Preaxial polydactyly of fingers' SubClassOf 'Polydactyly' http://purl.obolibrary.org/obo/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_66633 Sensorineural hearing loss - early graying - essential tremor 'Sensorineural hearing loss - early graying - essential tremor' SubClassOf 'Rare genetic tremor disorder' 'Sensorineural hearing loss - early graying - essential tremor' SubClassOf 'Rare genetic movement disorder' 'Sensorineural hearing loss - early graying - essential tremor' SubClassOf 'Rare genetic tremor disorder' 'Sensorineural hearing loss - early graying - essential tremor' SubClassOf 'movement disorder' http://purl.obolibrary.org/obo/MONDO_0054591 Stankiewicz-Isidor syndrome 'Stankiewicz-Isidor syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700092 http://www.orpha.net/ORDO/Orphanet_314029 High bone mass osteogenesis imperfecta 'High bone mass osteogenesis imperfecta' SubClassOf 'Primary bone dysplasia with increased bone density' 'High bone mass osteogenesis imperfecta' SubClassOf 'Primary bone dysplasia with increased bone density' 'High bone mass osteogenesis imperfecta' SubClassOf 'Osteogenesis imperfecta' 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_0005563 trigeminal neural crest 'trigeminal neural crest' SubClassOf 'part of' some 'mesenchyme derived from head neural crest' http://www.orpha.net/ORDO/Orphanet_284160 8q21.11 microdeletion syndrome '8q21.11 microdeletion syndrome' SubClassOf 'syndrome caused by partial chromosomal deletion' http://www.orpha.net/ORDO/Orphanet_284139 Larsen-like syndrome, B3GAT3 type 'Larsen-like syndrome, B3GAT3 type' SubClassOf 'Primary bone dysplasia with multiple joint dislocations' 'Larsen-like syndrome, B3GAT3 type' SubClassOf 'Primary bone dysplasia with multiple joint dislocations' http://purl.obolibrary.org/obo/MONDO_0037937 pyrimidine metabolism disease 'pyrimidine metabolism disease' SubClassOf 'nutritional or metabolic disease' http://purl.obolibrary.org/obo/MONDO_0011173 thrombocythemia 2 'thrombocythemia 2' SubClassOf 'thrombocytosis disease' 'thrombocythemia 2' SubClassOf 'Familial thrombocytosis' 'thrombocythemia 2' SubClassOf 'essential thrombocythemia' 'thrombocythemia 2' SubClassOf 'Familial thrombocytosis' http://purl.obolibrary.org/obo/MONDO_0011182 trimethylaminuria (disease) 'trimethylaminuria (disease)' SubClassOf 'genetic disorder' 'trimethylaminuria (disease)' SubClassOf 'Dimethylglycine dehydrogenase deficiency' http://purl.obolibrary.org/obo/MONDO_0037792 carbohydrate metabolism disease 'carbohydrate metabolism disease' SubClassOf 'nutritional or metabolic disease' http://www.orpha.net/ORDO/Orphanet_402003 Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering 'Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering' SubClassOf 'Non-epidermolytic palmoplantar keratoderma' 'Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering' SubClassOf 'Isolated focal palmoplantar keratoderma' 'Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering' SubClassOf 'Hereditary palmoplantar keratoderma' 'Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering' SubClassOf 'Isolated focal palmoplantar keratoderma' http://purl.obolibrary.org/obo/UBERON_0005403 ventral striatum 'ventral striatum' SubClassOf 'anatomical entity' 'ventral striatum' SubClassOf 'anatomical structure' http://www.orpha.net/ORDO/Orphanet_369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome 'Intellectual disability-hyperkinetic movement-truncal ataxia syndrome' SubClassOf 'Rare genetic tremor disorder' http://purl.obolibrary.org/obo/MONDO_0037829 purine metabolism disease 'purine metabolism disease' SubClassOf 'nutritional or metabolic disease' http://purl.obolibrary.org/obo/MONDO_0037821 porphyrin metabolism disease 'porphyrin metabolism disease' SubClassOf 'nutritional or metabolic disease' http://purl.obolibrary.org/obo/MONDO_0013860 idiopathic membranous glomerulonephritis 'idiopathic membranous glomerulonephritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700007 http://purl.obolibrary.org/obo/MONDO_0011071 hereditary thrombocytopenia and hematologic cancer predisposition syndrome 'hereditary thrombocytopenia and hematologic cancer predisposition syndrome' SubClassOf 'Rare genetic coagulation disorder' http://www.ebi.ac.uk/efo/EFO_0008546 poisoning 'poisoning' SubClassOf 'chemically-induced disorder' 'poisoning' SubClassOf 'disease' http://www.ebi.ac.uk/efo/EFO_0008549 digestive system neoplasm 'digestive system neoplasm' SubClassOf 'digestive system disease' 'digestive system neoplasm' SubClassOf 'disease by anatomical system' http://www.ebi.ac.uk/efo/EFO_0008571 viral conjunctivitis 'viral conjunctivitis' SubClassOf 'viral eye infection' 'viral conjunctivitis' SubClassOf 'eye infectious disease' http://www.orpha.net/ORDO/Orphanet_35125 Epidermal nevus syndrome 'Epidermal nevus syndrome' SubClassOf 'head and neck neoplasia' http://www.orpha.net/ORDO/Orphanet_98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 'Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700086 http://www.orpha.net/ORDO/Orphanet_98709 Ectodermal malformation syndrome associated with ocular features 'Ectodermal malformation syndrome associated with ocular features' SubClassOf 'has modifier' some 'rare' 'Ectodermal malformation syndrome associated with ocular features' SubClassOf 'eye disease' http://www.orpha.net/ORDO/Orphanet_98702 Connective tissue disease with eye involvement 'Connective tissue disease with eye involvement' SubClassOf 'eye disease' 'Connective tissue disease with eye involvement' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_98733 Noonan syndrome and Noonan-related syndrome 'Noonan syndrome and Noonan-related syndrome' SubClassOf 'Syndrome associated with hypertrophic cardiomyopathy' 'Noonan syndrome and Noonan-related syndrome' SubClassOf 'familial hypertrophic cardiomyopathy' 'Noonan syndrome and Noonan-related syndrome' SubClassOf 'Syndrome associated with hypertrophic cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_96175 Ring chromosome 11 'Ring chromosome 11' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700091 http://www.orpha.net/ORDO/Orphanet_96176 Ring chromosome 13 'Ring chromosome 13' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700091 http://www.orpha.net/ORDO/Orphanet_96177 Ring chromosome 15 'Ring chromosome 15' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700091 http://www.orpha.net/ORDO/Orphanet_96178 Ring chromosome 16 'Ring chromosome 16' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700091 http://www.orpha.net/ORDO/Orphanet_96179 Maternal uniparental disomy of chromosome 2 'Maternal uniparental disomy of chromosome 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700086 http://www.orpha.net/ORDO/Orphanet_96171 Ring chromosome 2 'Ring chromosome 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700091 http://www.orpha.net/ORDO/Orphanet_96172 Ring chromosome 3 'Ring chromosome 3' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700091 http://www.orpha.net/ORDO/Orphanet_96173 Ring chromosome 9 'Ring chromosome 9' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700091 http://www.orpha.net/ORDO/Orphanet_96185 Maternal uniparental disomy of chromosome 16 'Maternal uniparental disomy of chromosome 16' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700086 http://www.orpha.net/ORDO/Orphanet_96186 Maternal uniparental disomy of chromosome 20 'Maternal uniparental disomy of chromosome 20' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700086 http://www.orpha.net/ORDO/Orphanet_96187 Maternal uniparental disomy of chromosome 21 'Maternal uniparental disomy of chromosome 21' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700086 http://www.orpha.net/ORDO/Orphanet_96188 Maternal uniparental disomy of chromosome 22 'Maternal uniparental disomy of chromosome 22' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700086 http://www.orpha.net/ORDO/Orphanet_96180 Maternal uniparental disomy of chromosome 4 'Maternal uniparental disomy of chromosome 4' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700086 http://www.orpha.net/ORDO/Orphanet_96181 Maternal uniparental disomy of chromosome 6 'Maternal uniparental disomy of chromosome 6' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700086 http://www.orpha.net/ORDO/Orphanet_96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700086 http://www.orpha.net/ORDO/Orphanet_96183 Maternal uniparental disomy of chromosome 9 'Maternal uniparental disomy of chromosome 9' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700086 http://www.orpha.net/ORDO/Orphanet_96184 Maternal uniparental disomy of chromosome 14 'Maternal uniparental disomy of chromosome 14' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700086 http://www.orpha.net/ORDO/Orphanet_2024 Hereditary gingival fibromatosis 'Hereditary gingival fibromatosis' SubClassOf 'Rare genetic odontologic disease' 'Hereditary gingival fibromatosis' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_2021 Fibrochondrogenesis 'Fibrochondrogenesis' SubClassOf 'Type 11 collagen-related bone disorder' 'Fibrochondrogenesis' SubClassOf 'Type 11 collagen-related bone disorder' http://www.orpha.net/ORDO/Orphanet_2028 Juvenile hyaline fibromatosis 'Juvenile hyaline fibromatosis' SubClassOf 'hereditary connective tissue disorder' http://purl.obolibrary.org/obo/MONDO_0001724 supraglottis cancer 'supraglottis cancer' SubClassOf 'larynx cancer' 'supraglottis cancer' SubClassOf 'Malignant Laryngeal Neoplasm' http://www.orpha.net/ORDO/Orphanet_96190 Paternal uniparental disomy of chromosome 5 'Paternal uniparental disomy of chromosome 5' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700086 http://www.orpha.net/ORDO/Orphanet_96191 Paternal uniparental disomy of chromosome 6 'Paternal uniparental disomy of chromosome 6' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700086 http://www.orpha.net/ORDO/Orphanet_96192 Paternal uniparental disomy of chromosome 7 'Paternal uniparental disomy of chromosome 7' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700086 http://www.orpha.net/ORDO/Orphanet_96193 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 'Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700086 http://www.orpha.net/ORDO/Orphanet_96194 Paternal uniparental disomy of chromosome 20 'Paternal uniparental disomy of chromosome 20' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700086 http://www.orpha.net/ORDO/Orphanet_96195 Paternal uniparental disomy of chromosome 21 'Paternal uniparental disomy of chromosome 21' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700086 http://www.orpha.net/ORDO/Orphanet_96123 Monosomy 22 'Monosomy 22' SubClassOf 'monosomy' http://www.orpha.net/ORDO/Orphanet_98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 'Angelman syndrome due to paternal uniparental disomy of chromosome 15' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700086 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://www.orpha.net/ORDO/Orphanet_250972 Polymicrogyria with optic nerve hypoplasia 'Polymicrogyria with optic nerve hypoplasia' SubClassOf 'syndromic intellectual disability' 'Polymicrogyria with optic nerve hypoplasia' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'Polymicrogyria with optic nerve hypoplasia' SubClassOf 'Syndromic optic nerve hypoplasia' 'Polymicrogyria with optic nerve hypoplasia' SubClassOf 'syndromic hereditary optic neuropathy' 'Polymicrogyria with optic nerve hypoplasia' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'Polymicrogyria with optic nerve hypoplasia' SubClassOf 'Syndromic optic nerve hypoplasia' http://purl.obolibrary.org/obo/MONDO_0011118 bilineal acute myeloid leukemia 'bilineal acute myeloid leukemia' SubClassOf 'myeloid leukemia' 'bilineal acute myeloid leukemia' SubClassOf 'acute leukemia of ambiguous lineage' 'bilineal acute myeloid leukemia' SubClassOf 'Acute Leukemia' 'bilineal acute myeloid leukemia' SubClassOf 'acute disease' http://purl.obolibrary.org/obo/MONDO_0037748 hyperlipoproteinemia 'hyperlipoproteinemia' SubClassOf 'nutritional or metabolic disease' http://www.orpha.net/ORDO/Orphanet_49827 Thiamine-responsive megaloblastic anemia syndrome 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf 'diabetes mellitus' 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf 'diabetes mellitus' http://www.orpha.net/ORDO/Orphanet_250989 1q21.1 microdeletion syndrome '1q21.1 microdeletion syndrome' SubClassOf 'syndrome caused by partial chromosomal deletion' 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_140436 Primary intraosseous vascular malformation 'Primary intraosseous vascular malformation' SubClassOf 'genetic vascular tumor' 'Primary intraosseous vascular malformation' SubClassOf 'hereditary connective tissue disorder' 'Primary intraosseous vascular malformation' SubClassOf 'Genetic vascular anomaly' 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_139474 17q11.2 microduplication syndrome '17q11.2 microduplication syndrome' SubClassOf 'congenital nervous system disorder' '17q11.2 microduplication syndrome' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_47044 Familial papillary renal cell carcinoma 'Familial papillary renal cell carcinoma' SubClassOf 'kidney neoplasm' http://www.orpha.net/ORDO/Orphanet_47045 Familial cold urticaria 'Familial cold urticaria' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_98643 Systemic disease with cataract 'Systemic disease with cataract' EquivalentTo 'systemic disease' and ('disease has feature' some 'cataract') 'Systemic disease with cataract' SubClassOf 'systemic disease' 'Systemic disease with cataract' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Systemic disease with cataract' SubClassOf 'disease has feature' some 'cataract' http://www.orpha.net/ORDO/Orphanet_96059 Mosaic trisomy 4 'Mosaic trisomy 4' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0700062 'Mosaic trisomy 4' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700065 http://www.orpha.net/ORDO/Orphanet_96068 Mosaic trisomy 22 'Mosaic trisomy 22' SubClassOf http://purl.obolibrary.org/obo/MONDO_0022759 '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 'Mosaic trisomy 5' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700065 http://www.orpha.net/ORDO/Orphanet_96061 Mosaic trisomy 8 'Mosaic trisomy 8' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043452 '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 'Mosaic trisomy 10' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700065 http://www.orpha.net/ORDO/Orphanet_98657 Genetic vitreous-retinal disease 'Genetic vitreous-retinal disease' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_84064 Syndromic diarrhea 'Syndromic diarrhea' SubClassOf 'hereditary connective tissue disorder' http://purl.obolibrary.org/obo/MONDO_0013626 psoriasis 14, pustular 'psoriasis 14, pustular' SubClassOf 'autoinflammatory syndrome with skin involvement' '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' http://purl.obolibrary.org/obo/UBERON_0005256 trunk mesenchyme '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://www.ebi.ac.uk/efo/EFO_0008777 Ig-Seq 'Ig-Seq' SubClassOf http://www.ebi.ac.uk/efo/EFO_0030014 http://purl.obolibrary.org/obo/UBERON_0003307 floor plate of midbrain 'floor plate of midbrain' SubClassOf 'part of' some 'floor plate' http://purl.obolibrary.org/obo/UBERON_2001256 lateral floor plate 'lateral floor plate' SubClassOf 'part of' some 'embryo' 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/MONDO_0025371 Parvoviridae infectious disease 'Parvoviridae infectious disease' SubClassOf 'viral disease' 'Parvoviridae infectious disease' SubClassOf 'infectious disease' http://www.orpha.net/ORDO/Orphanet_88621 Ichthyosis prematurity syndrome 'Ichthyosis prematurity syndrome' SubClassOf 'Autosomal ichthyosis syndrome with other associated signs' 'Ichthyosis prematurity syndrome' SubClassOf 'Autosomal ichthyosis syndrome with other associated signs' http://www.orpha.net/ORDO/Orphanet_306661 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome 'familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome' SubClassOf 'calcinosis' 'familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome' SubClassOf 'calcinosis' http://www.orpha.net/ORDO/Orphanet_306669 Hemiparkinsonism-hemiatrophy syndrome 'Hemiparkinsonism-hemiatrophy syndrome' SubClassOf 'parkinsonian syndrome due to neurodegenerative disease' 'Hemiparkinsonism-hemiatrophy syndrome' SubClassOf 'parkinsonian syndrome due to neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_306674 Kufor-Rakeb syndrome 'Kufor-Rakeb syndrome' SubClassOf 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' 'Kufor-Rakeb syndrome' SubClassOf 'parkinsonian syndrome due to neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_88661 Amelogenesis imperfecta 'Amelogenesis imperfecta' SubClassOf 'Rare genetic odontologic disease' 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_0008624 vitreous body disease 'vitreous body disease' SubClassOf 'connective tissue disease' 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://www.ebi.ac.uk/efo/EFO_0006342 aggressive periodontitis 'aggressive periodontitis' SubClassOf 'Rare genetic odontologic disease' 'aggressive periodontitis' SubClassOf 'genetic disorder' 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 'autoimmune disease with skin involvement' 'Reynolds syndrome' SubClassOf 'genetic skin 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_369881 2p21 microdeletion syndrome without cystinuria '2p21 microdeletion syndrome without cystinuria' SubClassOf '2p21 microdeletion syndrome' '2p21 microdeletion syndrome without cystinuria' SubClassOf 'Hypotonia - cystinuria type 1' 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_369886 Homozygous 2p21 microdeletion syndrome 'Homozygous 2p21 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 2' 'Homozygous 2p21 microdeletion syndrome' SubClassOf 'Genetic renal tubular disease' 'Homozygous 2p21 microdeletion syndrome' SubClassOf 'Disorder of amino acid absorption and transport' 'Homozygous 2p21 microdeletion syndrome' SubClassOf 'inborn mitochondrial metabolism disorder' 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_86309 DPAGT1-CDG 'DPAGT1-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'DPAGT1-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' http://www.orpha.net/ORDO/Orphanet_140989 Primary central nervous system vasculitis 'Primary central nervous system vasculitis' SubClassOf 'Rare genetic systemic or rheumatologic disease' http://www.orpha.net/ORDO/Orphanet_370921 STT3A-CDG 'STT3A-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'STT3A-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' http://www.orpha.net/ORDO/Orphanet_370924 STT3B-CDG 'STT3B-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'STT3B-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 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_370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' http://purl.obolibrary.org/obo/MONDO_0015938 systemic disease 'systemic disease' SubClassOf 'systemic or rheumatic disease' http://purl.obolibrary.org/obo/MONDO_0015939 systemic autoimmune disease 'systemic autoimmune disease' SubClassOf 'systemic disease' http://purl.obolibrary.org/obo/MONDO_0001314 chondrocalcinosis 'chondrocalcinosis' SubClassOf 'nutritional or metabolic disease' http://purl.obolibrary.org/obo/MONDO_0001328 thyroid hormone resistance syndrome 'thyroid hormone resistance syndrome' SubClassOf 'disease of receptor activity' 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://www.orpha.net/ORDO/Orphanet_282124 Partial deletion of chromosome 12 'Partial deletion of chromosome 12' SubClassOf 'syndrome caused by partial chromosomal deletion' 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_0006313 chemotherapy-induced oral mucositis 'chemotherapy-induced oral mucositis' SubClassOf 'stomatitis' 'chemotherapy-induced oral mucositis' SubClassOf 'stomatitis' http://www.ebi.ac.uk/efo/EFO_0006307 UKE1 'UKE1' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0008966 TCR Chain Paring 'TCR Chain Paring' SubClassOf http://www.ebi.ac.uk/efo/EFO_0030015 http://purl.obolibrary.org/obo/MONDO_0013324 lymphedema-posterior choanal atresia syndrome 'lymphedema-posterior choanal atresia syndrome' SubClassOf 'genetic vascular tumor' 'lymphedema-posterior choanal atresia syndrome' SubClassOf 'Genetic vascular anomaly' http://www.ebi.ac.uk/efo/EFO_0008997 synovitis 'synovitis' SubClassOf 'rheumatic disease' 'synovitis' SubClassOf 'disease has feature' some 'arthritis' 'synovitis' SubClassOf 'connective tissue disease' '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_0008887 Rep-Seq 'Rep-Seq' SubClassOf http://www.ebi.ac.uk/efo/EFO_0030014 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_0003083 trunk neural crest 'trunk neural crest' SubClassOf 'part of' some 'embryo' http://www.orpha.net/ORDO/Orphanet_294049 Reunion Island's Larsen syndrome 'Reunion Island's Larsen syndrome' SubClassOf 'Primary bone dysplasia with multiple joint dislocations' 'Reunion Island's Larsen syndrome' SubClassOf 'Primary bone dysplasia with multiple joint dislocations' http://purl.obolibrary.org/obo/UBERON_0003099 cranial neural crest 'cranial neural crest' SubClassOf 'part of' some 'embryo' http://www.orpha.net/ORDO/Orphanet_98249 Ehlers-Danlos syndrome 'Ehlers-Danlos syndrome' SubClassOf 'systemic disease' 'Ehlers-Danlos syndrome' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Ehlers-Danlos syndrome' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Ehlers-Danlos syndrome' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_140944 CLOVE syndrome 'CLOVE syndrome' SubClassOf 'genetic vascular tumor' 'CLOVE syndrome' SubClassOf 'Genetic subcutaneous tissue disorder' 'CLOVE syndrome' SubClassOf 'vascular neoplasm' 'CLOVE syndrome' SubClassOf 'Genetic vascular anomaly' http://purl.obolibrary.org/obo/UBERON_0003040 central gray substance of midbrain 'central gray substance of midbrain' SubClassOf 'anatomical entity' 'central gray substance of midbrain' SubClassOf 'anatomical structure' 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 'part of' some 'embryo' 'presomitic mesoderm' SubClassOf 'anatomical structure' http://purl.obolibrary.org/obo/UBERON_0003061 blood island 'blood island' SubClassOf 'part of' some 'embryo' http://purl.obolibrary.org/obo/UBERON_0003068 axial mesoderm 'axial mesoderm' SubClassOf 'part of' some 'embryo' http://www.orpha.net/ORDO/Orphanet_294023 Neonatal inflammatory skin and bowel disease 'Neonatal inflammatory skin and bowel disease' SubClassOf 'inflammatory bowel disease' 'Neonatal inflammatory skin and bowel disease' SubClassOf 'inflammatory bowel disease' http://purl.obolibrary.org/obo/UBERON_0003073 lens placode 'lens placode' SubClassOf 'part of' some 'embryo' http://purl.obolibrary.org/obo/UBERON_0003071 eye primordium 'eye primordium' SubClassOf 'part of' some 'embryo' 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 'embryo' http://www.orpha.net/ORDO/Orphanet_140908 Brachydactyly type B2 'Brachydactyly type B2' SubClassOf 'Syndrome with brachydactyly' 'Brachydactyly type B2' SubClassOf 'Brachydactyly type B' http://purl.obolibrary.org/obo/UBERON_0003079 floor plate 'floor plate' SubClassOf 'part of' some 'embryo' http://www.orpha.net/ORDO/Orphanet_247691 Retinal vasculopathy and cerebral leukodystrophy 'Retinal vasculopathy and cerebral leukodystrophy' SubClassOf 'hereditary connective tissue disorder' http://www.ebi.ac.uk/efo/EFO_0008842 Paired VH:VL Antibody Repertoire Analysis 'Paired VH:VL Antibody Repertoire Analysis' SubClassOf http://www.ebi.ac.uk/efo/EFO_0030014 http://purl.obolibrary.org/obo/HP_0031685 Abnormal stool composition 'Abnormal stool composition' SubClassOf 'Abnormality of metabolism/homeostasis' http://purl.obolibrary.org/obo/MONDO_0008559 thrombophilia due to thrombin defect 'thrombophilia due to thrombin defect' SubClassOf 'inherited thrombophilia' http://purl.obolibrary.org/obo/MONDO_0021445 benign neoplasm of oral cavity 'benign neoplasm of oral cavity' SubClassOf 'benign neoplasm' 'benign neoplasm of oral cavity' SubClassOf 'mouth neoplasm' http://purl.obolibrary.org/obo/HP_0004602 Cervical C2/C3 vertebral fusion 'Cervical C2/C3 vertebral fusion' SubClassOf 'Abnormality of the vertebral column' http://purl.obolibrary.org/obo/MONDO_0021309 malignant neoplasm of endocervix 'malignant neoplasm of endocervix' SubClassOf 'cervical cancer' http://purl.obolibrary.org/obo/MONDO_0021334 immunoproliferative disorder 'immunoproliferative disorder' SubClassOf 'immune system disease' http://purl.obolibrary.org/obo/MONDO_0008248 pigmented purpuric eruption 'pigmented purpuric eruption' SubClassOf 'genetic disorder' 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://purl.obolibrary.org/obo/MONDO_0011629 MOGS-CDG 'MOGS-CDG' SubClassOf 'metabolic disease with epilepsy' 'MOGS-CDG' SubClassOf 'Congenital disorder of glycosylation with hepatic involvement' 'MOGS-CDG' SubClassOf 'congenital disorder of glycosylation type II' 'MOGS-CDG' SubClassOf 'Disorder of protein N-glycosylation' 'MOGS-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' http://purl.obolibrary.org/obo/MONDO_0045003 scrotal disease 'scrotal disease' SubClassOf 'disorder by anatomical region' 'scrotal disease' SubClassOf 'male reproductive system disease' http://purl.obolibrary.org/obo/HP_0002411 Myokymia 'Myokymia' SubClassOf 'Abnormality of movement' http://www.ebi.ac.uk/efo/EFO_0600017 response to dolutegravir 'response to dolutegravir' SubClassOf 'response to reverse transcriptase inhibitor' http://www.ebi.ac.uk/efo/EFO_0600016 plasma beta-amyloid 1-40:1-42 ratio measurement 'plasma beta-amyloid 1-40:1-42 ratio measurement' SubClassOf 'Alzheimer's disease biomarker measurement' 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_0600018 trabecular bone score 'trabecular bone score' SubClassOf 'is_about' some 'bone element' 'trabecular bone score' SubClassOf 'bone fracture related measurement' 'trabecular bone score' SubClassOf 'is_about' some 'bone fracture' http://www.ebi.ac.uk/efo/EFO_0600013 response to ropeginterferon alfa-2b 'response to ropeginterferon alfa-2b' SubClassOf 'is_about' some 'ropeginterferon alfa-2b' 'response to ropeginterferon alfa-2b' SubClassOf 'response to interferon' 'response to ropeginterferon alfa-2b' SubClassOf 'is_about' some 'polycythemia vera' http://www.ebi.ac.uk/efo/EFO_0600015 noise exposure measurement 'noise exposure measurement' SubClassOf 'environmental exposure measurement' http://www.ebi.ac.uk/efo/EFO_0600014 ropeginterferon alfa-2b 'ropeginterferon alfa-2b' SubClassOf 'has_role' some 'antineoplastic agent' 'ropeginterferon alfa-2b' SubClassOf 'drug' 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_0041182 polymorphic light eruption 'polymorphic light eruption' SubClassOf 'photosensitivity disease' http://purl.obolibrary.org/obo/MONDO_0041052 postherpetic neuralgia 'postherpetic neuralgia' SubClassOf 'post-infectious neuralgia' http://purl.obolibrary.org/obo/MONDO_0018528 congenital myopathy with myasthenic-like onset 'congenital myopathy with myasthenic-like onset' SubClassOf 'RYR1-related myopathy' http://purl.obolibrary.org/obo/MONDO_0018529 qualitative or quantitative defects of Torsin-1A-interacting protein 1 'qualitative or quantitative defects of Torsin-1A-interacting protein 1' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' http://purl.obolibrary.org/obo/MONDO_0043544 nosocomial infection 'nosocomial infection' SubClassOf 'iatrogenic disease' 'nosocomial infection' EquivalentTo 'iatrogenic disease' and 'infectious disease' 'nosocomial infection' SubClassOf 'infectious disease' http://purl.obolibrary.org/obo/MONDO_0043543 iatrogenic disease 'iatrogenic disease' SubClassOf 'disease' http://purl.obolibrary.org/obo/MONDO_0018582 GCGR-related hyperglucagonemia 'GCGR-related hyperglucagonemia' SubClassOf 'has modifier' some 'rare' 'GCGR-related hyperglucagonemia' SubClassOf 'pancreatic neoplasm' http://purl.obolibrary.org/obo/MONDO_0043452 chromosome 8, trisomy 'chromosome 8, trisomy' SubClassOf 'trisomy' 'chromosome 8, trisomy' SubClassOf 'Autosomal trisomy' http://purl.obolibrary.org/obo/MONDO_0031230 mitochondrial complex II deficiency, nuclear type 'mitochondrial complex II deficiency, nuclear type' SubClassOf 'Mitochondrial myopathy' http://purl.obolibrary.org/obo/HP_0000689 Dental malocclusion 'Dental malocclusion' SubClassOf 'Abnormality of the dentition' http://purl.obolibrary.org/obo/MONDO_0008710 RAB23-related Carpenter syndrome 'RAB23-related Carpenter syndrome' SubClassOf 'Carpenter syndrome' http://purl.obolibrary.org/obo/MONDO_0008780 amyotrophic lateral sclerosis type 2, juvenile 'amyotrophic lateral sclerosis type 2, juvenile' SubClassOf 'Juvenile amyotrophic lateral sclerosis' http://purl.obolibrary.org/obo/MONDO_0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 'dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema' SubClassOf 'Dehydrated hereditary stomatocytosis' 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_0002404 liver hemangioma 'liver hemangioma' SubClassOf 'intra-abdominal hemangioma' 'liver hemangioma' SubClassOf 'benign endocrine neoplasm' 'liver hemangioma' SubClassOf 'benign digestive system neoplasm' 'liver hemangioma' SubClassOf 'liver neoplasm' http://purl.obolibrary.org/obo/HP_0000746 Delusions 'Delusions' SubClassOf 'Behavioral abnormality' http://purl.obolibrary.org/obo/MONDO_0002337 intra-abdominal hemangioma 'intra-abdominal hemangioma' SubClassOf 'abdominal and pelvic region disorder' 'intra-abdominal hemangioma' SubClassOf 'hemangioma' http://purl.obolibrary.org/obo/MONDO_0014128 TCF12-related craniosynostosis 'TCF12-related craniosynostosis' SubClassOf 'Isolated brachycephaly' 'TCF12-related craniosynostosis' SubClassOf 'Isolated plagiocephaly' 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 'acute myeloid leukemia' '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' 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' 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 'Inherited 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' 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' 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' 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 '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 '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 '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 '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 '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 '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 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 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, t(10;11)(p12;q23)' SubClassOf 'acute myeloid leukemia' 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' 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 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 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 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 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, t(6;9)(p23;q34.1)' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100383 acute myeloid leukemia, t(11;19)(q23;p13) '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 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 'Inherited 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 '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 'acute myeloid leukemia' '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 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, Monosomy 5' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100389 acute myeloid leukemia, Trisomy 8 '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_0100352 episodic kinesigenic dyskinesia 1 'episodic kinesigenic dyskinesia 1' SubClassOf 'episodic kinesigenic dyskinesia' http://purl.obolibrary.org/obo/MONDO_0100355 classic or non-classic genetic disease presentation 'classic or non-classic genetic disease presentation' SubClassOf 'disease characteristic' http://purl.obolibrary.org/obo/MONDO_0100357 non-classic presentation 'non-classic presentation' SubClassOf 'classic or non-classic genetic disease presentation' 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_0100365 mucopolysaccharidosis or mucopolysaccharidosis-like disorder 'mucopolysaccharidosis or mucopolysaccharidosis-like disorder' SubClassOf 'Inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0100366 occupational disorder 'occupational disorder' SubClassOf 'disease' 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 'Inherited acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100411 obsolete acute myeloid leukemia, NPM1 gene mutation 'obsolete acute myeloid leukemia, NPM1 gene mutation' SubClassOf http://www.w3.org/2002/07/owl#Thing 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' 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' 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 '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' 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' http://purl.obolibrary.org/obo/MONDO_0100417 acute myeloid leukemia, WT1 gene mutation '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' 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' http://purl.obolibrary.org/obo/MONDO_0100420 acute myeloid leukemia, KIT gene mutation 'acute myeloid leukemia, KIT gene mutation' SubClassOf 'Inherited 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 'acute myeloid leukemia' '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 '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 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, PTPN11 gene mutation' SubClassOf 'acute myeloid leukemia' 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 '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' 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 '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 myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100402 acute myeloid leukemia, del(13q14-q21) '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' 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 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 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 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 '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' http://purl.obolibrary.org/obo/MONDO_0100409 acute myeloid leukemia, t(3;5)(q25;q34) 'acute myeloid leukemia, t(3;5)(q25;q34)' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, t(3;5)(q25;q34)' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0004630 substance-induced psychosis 'substance-induced psychosis' SubClassOf 'psychosis' http://purl.obolibrary.org/obo/MONDO_0100294 mitochondrial complex II deficiency, nuclear type 1 'mitochondrial complex II deficiency, nuclear type 1' SubClassOf 'mitochondrial complex II deficiency, nuclear type' 'mitochondrial complex II deficiency, nuclear type 1' SubClassOf 'Isolated oxidative phosphorylation complex disorder' 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_0100275 fatty acyl-CoA reductase defects 'fatty acyl-CoA reductase defects' 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_0100255 adenosine kinase deficiency 'adenosine kinase deficiency' SubClassOf 'Cerebral organic aciduria' 'adenosine kinase deficiency' SubClassOf 'Neurometabolic disease' 'adenosine kinase deficiency' SubClassOf 'disorder of methionine catabolism' 'adenosine kinase deficiency' SubClassOf 'Autosomal recessive non-syndromic intellectual disability' 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_0100266 peroxisome biogenesis disorder due to PEX12 defect 'peroxisome biogenesis disorder due to PEX12 defect' SubClassOf 'Zellweger syndrome' http://purl.obolibrary.org/obo/MONDO_0100330 disease arising from reactivation of latent virus 'disease arising from reactivation of latent virus' SubClassOf 'viral disease' http://purl.obolibrary.org/obo/MONDO_0100336 infectious disease or post-infectious disorder 'infectious disease or post-infectious disorder' EquivalentTo 'post-infectious disorder' or 'infectious disease' 'infectious disease or post-infectious disorder' SubClassOf 'disease' http://purl.obolibrary.org/obo/MONDO_0100337 SEC61A1 deficiency 'SEC61A1 deficiency' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0100348 neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities 'neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities' SubClassOf 'neurodevelopmental disorder' 'neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities' SubClassOf 'Rare genetic neurological disorder' 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_0100329 primary viral infectious disease 'primary viral infectious disease' SubClassOf 'viral disease' 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_0100112 acyl-CoA binding domain containing protein 5 deficiency 'acyl-CoA binding domain containing protein 5 deficiency' SubClassOf 'Peroxisomal beta-oxidation disorder' 'acyl-CoA binding domain containing protein 5 deficiency' SubClassOf 'disorder of peroxisomal transporter' 'acyl-CoA binding domain containing protein 5 deficiency' SubClassOf 'disorder of plasmalogens biosynthesis' http://purl.obolibrary.org/obo/MONDO_0100121 SCN4A-related myopathy, autosomal recessive 'SCN4A-related myopathy, autosomal recessive' SubClassOf 'disease has major feature' some 'Craniosynostosis' 'SCN4A-related myopathy, autosomal recessive' SubClassOf 'autosomal recessive disease' 'SCN4A-related myopathy, autosomal recessive' SubClassOf 'Congenital myopathy' http://purl.obolibrary.org/obo/MONDO_0018848 IgG4-related retroperitoneal fibrosis 'IgG4-related retroperitoneal fibrosis' SubClassOf 'has modifier' some 'rare' 'IgG4-related retroperitoneal fibrosis' SubClassOf 'IgG4-related disease' http://purl.obolibrary.org/obo/MONDO_0100053 anaphylaxis 'anaphylaxis' SubClassOf 'hypersensitivity reaction disease' http://purl.obolibrary.org/obo/MONDO_0100054 idiopathic anaphylaxis 'idiopathic anaphylaxis' EquivalentTo 'anaphylaxis' and ('has modifier' some 'idiopathic') 'idiopathic anaphylaxis' SubClassOf 'idiopathic disease' 'idiopathic anaphylaxis' SubClassOf 'anaphylaxis' http://purl.obolibrary.org/obo/MONDO_0600001 glutaminase deficiency 'glutaminase deficiency' SubClassOf 'Neurometabolic disease' 'glutaminase deficiency' SubClassOf 'Disorder of glutamine metabolism' http://purl.obolibrary.org/obo/MONDO_0004259 endocervical carcinoma 'endocervical carcinoma' SubClassOf 'malignant neoplasm of endocervix' 'endocervical carcinoma' SubClassOf 'cervical carcinoma' 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://www.ebi.ac.uk/efo/EFO_0020016 X-21444 measurement 'X-21444 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0020017 2-aminobutyrate measurement '2-aminobutyrate measurement' SubClassOf 'amino acid measurement' http://www.ebi.ac.uk/efo/EFO_0020018 glycerophosphorylcholine measurement 'glycerophosphorylcholine measurement' SubClassOf 'measurement' and ('is_about' some 'glycerophosphocholine') 'glycerophosphorylcholine measurement' SubClassOf 'vitamin measurement' http://www.ebi.ac.uk/efo/EFO_0020019 isovalerylcarnitine measurement 'isovalerylcarnitine measurement' SubClassOf 'carnitine measurement' http://www.ebi.ac.uk/efo/EFO_0020012 indolelactate measurement 'indolelactate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0020013 5-methyluridine (ribothymidine) measurement '5-methyluridine (ribothymidine) measurement' SubClassOf 'uridine diphosphate measurement' http://www.ebi.ac.uk/efo/EFO_0020014 1-(1-enyl-stearoyl)-2-linoleoyl-GPE (P-18:0/18:2)* measurement '1-(1-enyl-stearoyl)-2-linoleoyl-GPE (P-18:0/18:2)* measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0020015 X-11593 measurement 'X-11593 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0020010 butyrylcarnitine measurement 'butyrylcarnitine measurement' SubClassOf 'carnitine measurement' http://www.ebi.ac.uk/efo/EFO_0020011 X-16964 measurement 'X-16964 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0020009 ethylmalonate measurement 'ethylmalonate measurement' SubClassOf 'measurement' and ('is_about' some 'ethylmalonate') 'ethylmalonate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0020005 pheochromocytoma-paraganglioma 'pheochromocytoma-paraganglioma' SubClassOf 'adrenal/paraganglial tumor' http://www.ebi.ac.uk/efo/EFO_0020006 enterocele 'enterocele' SubClassOf 'prolapse of female genital organ' http://www.ebi.ac.uk/efo/EFO_0020007 X-21467 measurement 'X-21467 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0020008 campesterol measurement 'campesterol measurement' SubClassOf 'lipid measurement' 'campesterol measurement' SubClassOf 'measurement' and ('is_about' some 'campesterol') http://www.ebi.ac.uk/efo/EFO_0020001 drug resistance 'drug resistance' SubClassOf 'biological process' http://www.ebi.ac.uk/efo/EFO_0020002 lack of efficacy 'lack of efficacy' SubClassOf 'biological process' http://www.ebi.ac.uk/efo/EFO_0020003 drug toxicity 'drug toxicity' SubClassOf 'biological process' http://www.ebi.ac.uk/efo/EFO_0020004 CH12F3 'CH12F3' SubClassOf 'bearer_of' some 'lymphoma' 'CH12F3' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('lymph node' and ('part_of' some 'Mus musculus')))) 'CH12F3' SubClassOf 'CH12.LX' http://www.ebi.ac.uk/efo/EFO_0020000 developmental and epileptic encephalopathy 94 'developmental and epileptic encephalopathy 94' SubClassOf 'developmental and epileptic encephalopathy' http://www.ebi.ac.uk/efo/EFO_0020038 megacystis-microcolon-intestinal hypoperistalsis syndrome 5 'megacystis-microcolon-intestinal hypoperistalsis syndrome 5' SubClassOf 'Megacystis-microcolon-intestinal hypoperistalsis syndrome' http://www.ebi.ac.uk/efo/EFO_0020039 neuronal ceroid-lipofuscinosis, dominant/recessive 'neuronal ceroid-lipofuscinosis, dominant/recessive' SubClassOf 'Neuronal ceroid lipofuscinosis' http://www.ebi.ac.uk/efo/EFO_0020034 familial Behcet-like autoinflammatory syndrome 'familial Behcet-like autoinflammatory syndrome' SubClassOf 'primary immunodeficiency disease' http://www.ebi.ac.uk/efo/EFO_0020035 autosomal dominant common variable immunodeficiency 'autosomal dominant common variable immunodeficiency' SubClassOf 'Common variable immunodeficiency' http://www.ebi.ac.uk/efo/EFO_0020036 autosomal recessive nemaline myopathy 'autosomal recessive nemaline myopathy' SubClassOf 'Nemaline myopathy' http://www.ebi.ac.uk/efo/EFO_0020037 autosominal recessive combined pituitary hormone deficiency 'autosominal recessive combined pituitary hormone deficiency' SubClassOf 'Combined pituitary hormone deficiencies, genetic forms' http://www.ebi.ac.uk/efo/EFO_0020030 tubulinopathy 'tubulinopathy' SubClassOf 'congenital nervous system disorder' http://www.ebi.ac.uk/efo/EFO_0020031 mononeuropathy of the median nerve 'mononeuropathy of the median nerve' SubClassOf 'mononeuropathy' http://www.ebi.ac.uk/efo/EFO_0020032 autosomal recessive transient neonatal diabetes mellitus 'autosomal recessive transient neonatal diabetes mellitus' SubClassOf 'transient neonatal diabetes, dominant/recessive' http://www.ebi.ac.uk/efo/EFO_0020033 autosomal recessive congenital stationary night blindness 'autosomal recessive congenital stationary night blindness' SubClassOf 'Congenital stationary night blindness' http://www.ebi.ac.uk/efo/EFO_0020027 susceptibility to partial acquired lipodystrophy 'susceptibility to partial acquired lipodystrophy' SubClassOf 'lipodystrophy' http://www.ebi.ac.uk/efo/EFO_0020028 autosomal dominant retinitis pigmentosa 'autosomal dominant retinitis pigmentosa' SubClassOf 'Retinitis pigmentosa' http://www.ebi.ac.uk/efo/EFO_0020029 autosomal recessive cone rod dystrophy 'autosomal recessive cone rod dystrophy' SubClassOf 'Cone rod dystrophy' http://www.ebi.ac.uk/efo/EFO_0020023 N-acetyltaurine measurement 'N-acetyltaurine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0020024 X-15728 measurement 'X-15728 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0020025 central hypoventilation syndrome, late-onset 'central hypoventilation syndrome, late-onset' SubClassOf 'autonomic nervous system disease' 'central hypoventilation syndrome, late-onset' SubClassOf 'neurocristopathy' 'central hypoventilation syndrome, late-onset' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0020026 autosomal recessive retinitis pigmentosa 'autosomal recessive retinitis pigmentosa' SubClassOf 'Retinitis pigmentosa' http://www.ebi.ac.uk/efo/EFO_0020020 succinylcarnitine measurement 'succinylcarnitine measurement' SubClassOf 'carnitine measurement' http://www.ebi.ac.uk/efo/EFO_0020021 N-acetyltyrosine measurement 'N-acetyltyrosine measurement' SubClassOf 'measurement' and ('is_about' some 'N-acetyltyrosine') 'N-acetyltyrosine measurement' SubClassOf 'amino acid measurement' http://www.ebi.ac.uk/efo/EFO_0020022 N-acetylneuraminate measurement 'N-acetylneuraminate measurement' SubClassOf 'measurement' and ('is_about' some 'N-acetylneuraminate') 'N-acetylneuraminate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0020041 congenital myasthenic syndrome, dominant/recessive 'congenital myasthenic syndrome, dominant/recessive' SubClassOf 'Congenital myasthenic syndromes' http://www.ebi.ac.uk/efo/EFO_0020040 transient neonatal diabetes, dominant/recessive 'transient neonatal diabetes, dominant/recessive' SubClassOf 'Transient neonatal diabetes mellitus' http://purl.obolibrary.org/obo/MONDO_0000661 alexithymia 'alexithymia' SubClassOf 'agnosia' http://purl.obolibrary.org/obo/MONDO_0000572 recombinase activating gene 1 deficiency 'recombinase activating gene 1 deficiency' SubClassOf 'Severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0000432 lymphoplasmacytic lymphoma 'lymphoplasmacytic lymphoma' SubClassOf 'B-cell neoplasm' 'lymphoplasmacytic lymphoma' SubClassOf 'disease has feature' some 'lymphoplasmacytic lymphoma' http://purl.obolibrary.org/obo/HP_0007676 Hypoplasia of the iris 'Hypoplasia of the iris' SubClassOf 'Ocular anterior segment dysgenesis' http://purl.obolibrary.org/obo/MONDO_0024287 congenital vascular malformation 'congenital vascular malformation' SubClassOf 'vascular malformation' 'congenital vascular malformation' EquivalentTo 'vascular malformation' and ('has modifier' some 'congenital') 'congenital vascular malformation' SubClassOf 'has modifier' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0014900 autosomal recessive limb-girdle muscular dystrophy type 2Y 'autosomal recessive limb-girdle muscular dystrophy type 2Y' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'autosomal recessive limb-girdle muscular dystrophy type 2Y' SubClassOf 'qualitative or quantitative defects of Torsin-1A-interacting protein 1' http://purl.obolibrary.org/obo/MONDO_0012186 Fanconi anemia complementation group I 'Fanconi anemia complementation group I' SubClassOf 'Fanconi anemia' http://purl.obolibrary.org/obo/HP_0005206 Pancreatic pseudocyst 'Pancreatic pseudocyst' SubClassOf 'Abnormality of the abdominal organs' http://purl.obolibrary.org/obo/MONDO_0700092 neurodevelopmental disorder 'neurodevelopmental disorder' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/MONDO_0700091 ring chromosome anomaly 'ring chromosome anomaly' SubClassOf 'Chromosomal anomaly' http://purl.obolibrary.org/obo/MONDO_0700086 uniparental disomy 'uniparental disomy' SubClassOf 'Chromosomal anomaly' http://purl.obolibrary.org/obo/MONDO_0700085 pentasomy 'pentasomy' SubClassOf 'aneuploidy' http://purl.obolibrary.org/obo/MONDO_0700084 myopathy caused by varation in GMPPB 'myopathy caused by varation in GMPPB' SubClassOf 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' 'myopathy caused by varation in GMPPB' SubClassOf 'myopathy' http://purl.obolibrary.org/obo/MONDO_0700075 congenital muscular dystrophy caused by varation in POMGNT2 'congenital muscular dystrophy caused by varation in POMGNT2' SubClassOf 'myopathy caused by varation in POMGNT2' 'congenital muscular dystrophy caused by varation in POMGNT2' SubClassOf 'Congenital muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0700071 myopathy caused by varation in POMT2 'myopathy caused by varation in POMT2' SubClassOf 'myopathy' 'myopathy caused by varation in POMT2' SubClassOf 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' http://purl.obolibrary.org/obo/MONDO_0700070 myopathy caused by varation in POMT1 'myopathy caused by varation in POMT1' SubClassOf 'myopathy' 'myopathy caused by varation 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 varation in POMGNT2 'myopathy caused by varation in POMGNT2' SubClassOf 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' 'myopathy caused by varation in POMGNT2' SubClassOf 'myopathy' http://purl.obolibrary.org/obo/MONDO_0700068 myopathy caused by varation in POMGNT1 'myopathy caused by varation in POMGNT1' SubClassOf 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' 'myopathy caused by varation in POMGNT1' SubClassOf 'myopathy' 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 varation in FKTN 'myopathy caused by varation in FKTN' SubClassOf 'myopathy' 'myopathy caused by varation in FKTN' SubClassOf 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' http://purl.obolibrary.org/obo/MONDO_0700066 myopathy caused by varation in FKRP 'myopathy caused by varation in FKRP' SubClassOf 'myopathy' 'myopathy caused by varation in FKRP' SubClassOf 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' 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/HP_0005268 Spontaneous abortion 'Spontaneous abortion' SubClassOf 'Abnormal delivery' 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://purl.obolibrary.org/obo/MONDO_0700000 ALG9-associated autosomal dominant polycystic kidney disease 'ALG9-associated autosomal dominant polycystic kidney disease' SubClassOf 'Autosomal dominant polycystic kidney disease' http://purl.obolibrary.org/obo/MONDO_0012073 ribose-5-P isomerase deficiency 'ribose-5-P isomerase deficiency' SubClassOf 'Leukodystrophy' 'ribose-5-P isomerase deficiency' SubClassOf 'Disorder of pentose phosphate metabolism' http://purl.obolibrary.org/obo/MONDO_0014766 leukodystrophy and acquired microcephaly with or without dystonia; 'leukodystrophy and acquired microcephaly with or without dystonia;' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014564 congenital bile acid synthesis defect 5 'congenital bile acid synthesis defect 5' SubClassOf 'disorder of peroxisomal transporter' 'congenital bile acid synthesis defect 5' SubClassOf 'Congenital bile acid synthesis defect' 'congenital bile acid synthesis defect 5' SubClassOf 'Cerebral organic aciduria' http://ebi.ac.uk/efo/EFO_0600072 human polyomavirus 6 seropositivity 'human polyomavirus 6 seropositivity' SubClassOf 'seropositivity measurement' http://ebi.ac.uk/efo/EFO_0600071 blood glutathione peroxidase measurement 'blood glutathione peroxidase measurement' SubClassOf 'protein measurement' http://ebi.ac.uk/efo/EFO_0600070 interleukin-6 gene expression measurement 'interleukin-6 gene expression measurement' SubClassOf 'gene expression measurement' http://ebi.ac.uk/efo/EFO_0600076 stimulant use measurement 'stimulant use measurement' SubClassOf 'drug use measurement' http://ebi.ac.uk/efo/EFO_0600075 response to stimulant therapy 'response to stimulant therapy' SubClassOf 'response to drug' http://ebi.ac.uk/efo/EFO_0600074 anti-human polyomavirus 6 antibody measurement 'anti-human polyomavirus 6 antibody measurement' SubClassOf 'antibody measurement' http://ebi.ac.uk/efo/EFO_0600073 anti-WU polyomavirus antibody measurement 'anti-WU polyomavirus antibody measurement' SubClassOf 'antibody measurement' http://ebi.ac.uk/efo/EFO_0600079 glucocorticoid receptor gene expression measurement 'glucocorticoid receptor gene expression measurement' SubClassOf 'gene expression measurement' http://ebi.ac.uk/efo/EFO_0600078 Achilles tendon injury 'Achilles tendon injury' SubClassOf 'leg injury' http://ebi.ac.uk/efo/EFO_0600077 cardiac troponin I change measurement 'cardiac troponin I change measurement' SubClassOf 'cardiac troponin I measurement' http://ebi.ac.uk/efo/EFO_0600061 blood group B 'blood group B' SubClassOf 'ABO blood group' http://ebi.ac.uk/efo/EFO_0600060 blood group A 'blood group A' SubClassOf 'ABO blood group' http://ebi.ac.uk/efo/EFO_0600065 response to tolvaptan 'response to tolvaptan' SubClassOf 'response to drug' http://ebi.ac.uk/efo/EFO_0600064 serum lipopolysaccharide activity 'serum lipopolysaccharide activity' SubClassOf 'gram-negative bacterial infections' http://ebi.ac.uk/efo/EFO_0600063 blood group O 'blood group O' SubClassOf 'ABO blood group' http://ebi.ac.uk/efo/EFO_0600062 blood group AB 'blood group AB' SubClassOf 'ABO blood group' http://ebi.ac.uk/efo/EFO_0600069 tumor necrosis factor alpha gene expression measurement 'tumor necrosis factor alpha gene expression measurement' SubClassOf 'gene expression measurement' http://ebi.ac.uk/efo/EFO_0600068 gene expression measurement 'gene expression measurement' SubClassOf 'measurement' http://ebi.ac.uk/efo/EFO_0600067 mastiha supplement exposure measurement 'mastiha supplement exposure measurement' SubClassOf 'nutritional supplement exposure measurement' http://ebi.ac.uk/efo/EFO_0600066 nutritional supplement exposure measurement 'nutritional supplement exposure measurement' SubClassOf 'environmental exposure measurement' http://ebi.ac.uk/efo/EFO_0600059 ABO blood group 'ABO blood group' SubClassOf 'blood group' http://ebi.ac.uk/efo/EFO_0600050 plasma leucine rich alpha-2-glycoprotein 1 measurement 'plasma leucine rich alpha-2-glycoprotein 1 measurement' SubClassOf 'inflammatory biomarker measurement' 'plasma leucine rich alpha-2-glycoprotein 1 measurement' SubClassOf 'blood protein measurement' http://ebi.ac.uk/efo/EFO_0600054 complement factor H-related protein 1 measurement 'complement factor H-related protein 1 measurement' SubClassOf 'complement factor H-related proteins measurement' http://ebi.ac.uk/efo/EFO_0600053 complement factor H-related proteins measurement 'complement factor H-related proteins measurement' SubClassOf 'blood protein measurement' http://ebi.ac.uk/efo/EFO_0600052 response to varenicline 'response to varenicline' SubClassOf 'response to smoking cessation agent' http://ebi.ac.uk/efo/EFO_0600051 response to smoking cessation agent 'response to smoking cessation agent' SubClassOf 'response to drug' 'response to smoking cessation agent' SubClassOf 'is_about' some 'smoking cessation' http://ebi.ac.uk/efo/EFO_0600058 blood group 'blood group' SubClassOf 'measurement' 'blood group' SubClassOf 'is_about' some 'blood' http://ebi.ac.uk/efo/EFO_0600057 complement factor H-related protein 4A measurement 'complement factor H-related protein 4A measurement' SubClassOf 'complement factor H-related proteins measurement' http://ebi.ac.uk/efo/EFO_0600056 complement factor H-related protein 3 measurement 'complement factor H-related protein 3 measurement' SubClassOf 'complement factor H-related proteins measurement' http://ebi.ac.uk/efo/EFO_0600055 complement factor H-related protein 2 measurement 'complement factor H-related protein 2 measurement' SubClassOf 'complement factor H-related proteins measurement' http://ebi.ac.uk/efo/EFO_0600049 pancreas fat measurement 'pancreas fat measurement' SubClassOf 'measurement' 'pancreas fat measurement' SubClassOf 'is_about' some 'pancreas' http://ebi.ac.uk/efo/EFO_0600048 liver volume 'liver volume' SubClassOf 'is_about' some 'liver' 'liver volume' SubClassOf 'measurement' http://ebi.ac.uk/efo/EFO_0600043 serum N-desmethylclozapine measurement 'serum N-desmethylclozapine measurement' SubClassOf 'is_about' some 'metabolite' 'serum N-desmethylclozapine measurement' SubClassOf 'mental or behavioural disorder biomarker' 'serum N-desmethylclozapine measurement' SubClassOf 'is_about' some 'N-desmethylclozapine' 'serum N-desmethylclozapine measurement' SubClassOf 'is_about' some 'schizophrenia' http://ebi.ac.uk/efo/EFO_0600042 serum clozapine-to-N-desmethylclozapine ratio measurement 'serum clozapine-to-N-desmethylclozapine ratio measurement' SubClassOf 'is_about' some 'schizophrenia' 'serum clozapine-to-N-desmethylclozapine ratio measurement' SubClassOf 'is_about' some 'N-desmethylclozapine' 'serum clozapine-to-N-desmethylclozapine ratio measurement' SubClassOf 'is_about' some 'clozapine' 'serum clozapine-to-N-desmethylclozapine ratio measurement' SubClassOf 'is_about' some 'metabolite' 'serum clozapine-to-N-desmethylclozapine ratio measurement' SubClassOf 'mental or behavioural disorder biomarker' http://ebi.ac.uk/efo/EFO_0600041 serum clozapine measurement 'serum clozapine measurement' SubClassOf 'is_about' some 'schizophrenia' 'serum clozapine measurement' SubClassOf 'mental or behavioural disorder biomarker' 'serum clozapine measurement' SubClassOf 'is_about' some 'clozapine' http://ebi.ac.uk/efo/EFO_0600040 plasma clozapine-to-N-desmethylclozapine ratio measurement 'plasma clozapine-to-N-desmethylclozapine ratio measurement' SubClassOf 'is_about' some 'schizophrenia' 'plasma clozapine-to-N-desmethylclozapine ratio measurement' SubClassOf 'is_about' some 'clozapine' 'plasma clozapine-to-N-desmethylclozapine ratio measurement' SubClassOf 'is_about' some 'metabolite' 'plasma clozapine-to-N-desmethylclozapine ratio measurement' SubClassOf 'is_about' some 'N-desmethylclozapine' 'plasma clozapine-to-N-desmethylclozapine ratio measurement' SubClassOf 'mental or behavioural disorder biomarker' http://ebi.ac.uk/efo/EFO_0600047 spleen volume 'spleen volume' SubClassOf 'measurement' http://ebi.ac.uk/efo/EFO_0600046 lung volume 'lung volume' SubClassOf 'measurement' 'lung volume' SubClassOf 'is_about' some 'lung' http://ebi.ac.uk/efo/EFO_0600045 pancreas volume 'pancreas volume' SubClassOf 'measurement' 'pancreas volume' SubClassOf 'is_about' some 'pancreas' http://ebi.ac.uk/efo/EFO_0600044 kidney volume 'kidney volume' SubClassOf 'measurement' 'kidney volume' SubClassOf 'is_about' some 'kidney' 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_0030024 analysis of matrices 'analysis of matrices' SubClassOf 'data transformation' http://www.ebi.ac.uk/efo/EFO_0030025 spatial analysis 'spatial analysis' SubClassOf 'data transformation' http://www.ebi.ac.uk/efo/EFO_0030022 raw matrix generation 'raw matrix generation' SubClassOf 'data transformation' http://www.ebi.ac.uk/efo/EFO_0030023 processed matrix generation 'processed matrix generation' SubClassOf 'data transformation' http://www.ebi.ac.uk/efo/EFO_0030028 sci-RNA-seq3 'sci-RNA-seq3' SubClassOf 'sci-RNA-seq' http://www.ebi.ac.uk/efo/EFO_0030029 NanoString digital spatial profiling 'NanoString digital spatial profiling' SubClassOf 'spatial transcriptomics by high-throughput sequencing' http://www.ebi.ac.uk/efo/EFO_0030026 sci-Plex 'sci-Plex' SubClassOf 'sci-RNA-seq' http://www.ebi.ac.uk/efo/EFO_0030027 snmC-Seq2 'snmC-Seq2' SubClassOf 'methylation profiling by high throughput sequencing' 'snmC-Seq2' SubClassOf 'single cell library construction' http://www.ebi.ac.uk/efo/EFO_0030031 SCOPE-chip 'SCOPE-chip' SubClassOf 'single cell library construction' http://www.ebi.ac.uk/efo/EFO_0030032 B6.SJL-Slc6a3tm1.1(cre)Bkmn/J 'B6.SJL-Slc6a3tm1.1(cre)Bkmn/J' SubClassOf 'Mus musculus' http://www.ebi.ac.uk/efo/EFO_0030030 Quant-seq 'Quant-seq' SubClassOf 'transcription profiling by high throughput sequencing' http://www.ebi.ac.uk/efo/EFO_0030035 cancer cell line sample 'cancer cell line sample' SubClassOf 'neoplastic sample' http://www.ebi.ac.uk/efo/EFO_0030036 bronchoscopic microsampling 'bronchoscopic microsampling' SubClassOf 'biopsy' http://www.ebi.ac.uk/efo/EFO_0030033 gRNA-seq 'gRNA-seq' SubClassOf 'amplicon sequencing' 'gRNA-seq' SubClassOf 'DNA assay' http://www.ebi.ac.uk/efo/EFO_0030034 shRNA-seq 'shRNA-seq' SubClassOf 'amplicon sequencing' 'shRNA-seq' SubClassOf 'DNA assay' http://www.ebi.ac.uk/efo/EFO_0030039 no follow-up status 'no follow-up status' SubClassOf 'follow-up status' http://www.ebi.ac.uk/efo/EFO_0030037 T cell activation assay 'T cell activation assay' SubClassOf 'assay' http://www.ebi.ac.uk/efo/EFO_0030038 follow-up status 'follow-up status' SubClassOf 'quality' http://www.ebi.ac.uk/efo/EFO_0030006 immune sequencing 'immune sequencing' SubClassOf 'assay by sequencer' http://www.ebi.ac.uk/efo/EFO_0030014 bulk immune repertoire sequencing 'bulk immune repertoire sequencing' SubClassOf 'immune sequencing' http://ebi.ac.uk/efo/EFO_0600080 response to recombinant tissue-plasminogen activator 'response to recombinant tissue-plasminogen activator' SubClassOf 'response to drug' 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_0030015 single cell immune repertoire sequencing 'single cell immune repertoire sequencing' SubClassOf 'immune sequencing' 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://www.ebi.ac.uk/efo/EFO_0030042 alive with disease 'alive with disease' SubClassOf 'alive (follow-up status)' http://www.ebi.ac.uk/efo/EFO_0030043 alive in partial remission 'alive in partial remission' SubClassOf 'alive with disease' http://www.ebi.ac.uk/efo/EFO_0030040 recorded follow-up status 'recorded follow-up status' SubClassOf 'follow-up status' http://www.ebi.ac.uk/efo/EFO_0030041 alive (follow-up status) 'alive (follow-up status)' SubClassOf 'recorded follow-up status' http://www.ebi.ac.uk/efo/EFO_0030046 alive with progressive disease 'alive with progressive disease' SubClassOf 'alive with disease' http://www.ebi.ac.uk/efo/EFO_0030047 alive with metastatic disease 'alive with metastatic disease' SubClassOf 'alive with disease' http://www.ebi.ac.uk/efo/EFO_0030044 alive with stable disease 'alive with stable disease' SubClassOf 'alive with disease' http://www.ebi.ac.uk/efo/EFO_0030045 alive with recurrent disease 'alive with recurrent disease' SubClassOf 'alive with disease' http://www.ebi.ac.uk/efo/EFO_0030048 alive in complete remission 'alive in complete remission' SubClassOf 'alive (follow-up status)' http://www.ebi.ac.uk/efo/EFO_0030049 dead (follow-up status) 'dead (follow-up status)' SubClassOf 'recorded follow-up status' http://www.ebi.ac.uk/efo/EFO_0030053 pseudo-bulk aggregation of single-cell expression data 'pseudo-bulk aggregation of single-cell expression data' SubClassOf 'processed matrix generation' http://www.ebi.ac.uk/efo/EFO_0030054 label-free quantification 'label-free quantification' SubClassOf 'proteomic profiling by mass spectrometer' http://www.ebi.ac.uk/efo/EFO_0030051 death from other causes 'death from other causes' SubClassOf 'dead (follow-up status)' http://www.ebi.ac.uk/efo/EFO_0030052 nuclear RNA 'nuclear RNA' SubClassOf 'RNA' http://www.ebi.ac.uk/efo/EFO_0030057 Luminex multi-analyte profiling 'Luminex multi-analyte profiling' SubClassOf 'assay by instrument' http://www.ebi.ac.uk/efo/EFO_0030058 transcription profiling by NanoString 'transcription profiling by NanoString' SubClassOf 'transcription profiling' http://www.ebi.ac.uk/efo/EFO_0030055 16S metagenomic sequencing '16S metagenomic sequencing' SubClassOf 'amplicon sequencing' http://www.ebi.ac.uk/efo/EFO_0030056 tandem mass spectrometry 'tandem mass spectrometry' SubClassOf 'assay by mass spectrometry' http://www.ebi.ac.uk/efo/EFO_0030050 death from disease 'death from disease' SubClassOf 'dead (follow-up status)' http://purl.obolibrary.org/obo/MONDO_0014643 congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome 'congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome' SubClassOf 'Rare genetic neurological disorder' 'congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome' SubClassOf 'Syndromic cataract' 'congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0014510 fatty acyl-CoA reductase 1 deficiency 'fatty acyl-CoA reductase 1 deficiency' SubClassOf 'Neurometabolic disease' 'fatty acyl-CoA reductase 1 deficiency' SubClassOf 'Metabolic disease with cataract' 'fatty acyl-CoA reductase 1 deficiency' SubClassOf 'fatty acyl-CoA reductase defects' 'fatty acyl-CoA reductase 1 deficiency' SubClassOf 'syndromic intellectual disability' 'fatty acyl-CoA reductase 1 deficiency' SubClassOf 'Rare syndromic dyslipidemia' 'fatty acyl-CoA reductase 1 deficiency' SubClassOf 'peroxisomal disease with epilepsy' http://ebi.ac.uk/efo/EFO_0600039 plasma N-desmethylclozapine measurement 'plasma N-desmethylclozapine measurement' SubClassOf 'is_about' some 'schizophrenia' 'plasma N-desmethylclozapine measurement' SubClassOf 'mental or behavioural disorder biomarker' 'plasma N-desmethylclozapine measurement' SubClassOf 'is_about' some 'metabolite' 'plasma N-desmethylclozapine measurement' SubClassOf 'is_about' some 'N-desmethylclozapine' http://ebi.ac.uk/efo/EFO_0600038 plasma clozapine measurement 'plasma clozapine measurement' SubClassOf 'is_about' some 'clozapine' 'plasma clozapine measurement' SubClassOf 'is_about' some 'schizophrenia' 'plasma clozapine measurement' SubClassOf 'mental or behavioural disorder biomarker' http://ebi.ac.uk/efo/EFO_0600037 resistance training 'resistance training' SubClassOf 'physical activity' http://ebi.ac.uk/efo/EFO_0600036 muscle fiber cross-sectional area measurement 'muscle fiber cross-sectional area measurement' SubClassOf 'muscle measurement' http://ebi.ac.uk/efo/EFO_0600035 left atrial volume measurement 'left atrial volume measurement' SubClassOf 'cardiovascular measurement' http://ebi.ac.uk/efo/EFO_0600034 response to neuromuscular blocker 'response to neuromuscular blocker' SubClassOf 'response to drug' http://ebi.ac.uk/efo/EFO_0600033 response to mitochondrial complex I inhibitor 'response to mitochondrial complex I inhibitor' SubClassOf 'response to drug' http://purl.obolibrary.org/obo/MONDO_0014532 autosomal dominant mitochondrial myopathy with exercise intolerance 'autosomal dominant mitochondrial myopathy with exercise intolerance' SubClassOf 'Mitochondrial myopathy' 'autosomal dominant mitochondrial myopathy with exercise intolerance' SubClassOf 'Neurometabolic disease' 'autosomal dominant mitochondrial myopathy with exercise intolerance' SubClassOf 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' 'autosomal dominant mitochondrial myopathy with exercise intolerance' SubClassOf 'congenital nervous system disorder' 'autosomal dominant mitochondrial myopathy with exercise intolerance' SubClassOf 'Metabolic myopathy' http://purl.obolibrary.org/obo/MONDO_0009855 d-bifunctional protein deficiency 'd-bifunctional protein deficiency' SubClassOf 'Peroxisomal beta-oxidation disorder' http://www.ebi.ac.uk/efo/EFO_0011064 recessive spherocytosis 'recessive spherocytosis' SubClassOf 'Hereditary spherocytosis' http://www.ebi.ac.uk/efo/EFO_0011063 recessive lissencephaly 'recessive lissencephaly' SubClassOf 'Lissencephaly' http://purl.obolibrary.org/obo/MONDO_0044202 episodic kinesigenic dyskinesia 'episodic kinesigenic dyskinesia' SubClassOf 'Paroxysmal dyskinesia' 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/OBI_0000540 isolation of adherent cells 'isolation of adherent cells' SubClassOf 'isolation of cell population' http://purl.obolibrary.org/obo/MONDO_0022752 chromosome 16p13.3 deletion syndrome 'chromosome 16p13.3 deletion syndrome' SubClassOf 'Rubinstein-Taybi syndrome' http://purl.obolibrary.org/obo/MONDO_0022756 chromosome 1q deletion 'chromosome 1q deletion' SubClassOf 'syndrome caused by partial chromosomal deletion' http://purl.obolibrary.org/obo/MONDO_0022757 chromosome 20 trisomy 'chromosome 20 trisomy' SubClassOf 'trisomy' http://purl.obolibrary.org/obo/MONDO_0022759 trisomy 22 'trisomy 22' SubClassOf 'trisomy' http://purl.obolibrary.org/obo/MONDO_0007152 arrhythmogenic right ventricular dysplasia 1 'arrhythmogenic right ventricular dysplasia 1' SubClassOf 'Familial isolated arrhythmogenic right ventricular dysplasia' http://purl.obolibrary.org/obo/MONDO_0009667 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3' SubClassOf 'muscular dystrophy-dystroglycanopathy, type A' 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3' SubClassOf 'myopathy caused by varation in POMGNT1' 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3' SubClassOf 'Muscle-eye-brain 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/HP_0040270 Impaired glucose tolerance 'Impaired glucose tolerance' SubClassOf 'Glucose intolerance' http://purl.obolibrary.org/obo/MONDO_0022529 BK-virus nephropathy 'BK-virus nephropathy' SubClassOf 'hantavirus hemorrhagic fever with renal syndrome' http://purl.obolibrary.org/obo/MONDO_0010459 amyotrophic lateral sclerosis type 15 'amyotrophic lateral sclerosis type 15' SubClassOf 'familial amyotrophic lateral sclerosis' http://purl.obolibrary.org/obo/MONDO_0022180 chromosome 16 trisomy 'chromosome 16 trisomy' SubClassOf 'trisomy' http://purl.obolibrary.org/obo/MONDO_0009214 Fanconi anemia complementation group D2 'Fanconi anemia complementation group D2' SubClassOf 'Fanconi anemia' http://purl.obolibrary.org/obo/MONDO_0009230 fibrosclerosis, multifocal 'fibrosclerosis, multifocal' SubClassOf 'IgG4-related retroperitoneal fibrosis' 'fibrosclerosis, multifocal' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0022208 crystal arthropathy 'crystal arthropathy' SubClassOf 'joint disease' http://purl.obolibrary.org/obo/HP_0025004 Hallux rigidus 'Hallux rigidus' SubClassOf 'Abnormality of toe' http://purl.obolibrary.org/obo/MONDO_0012701 cataract 12 multiple types 'cataract 12 multiple types' SubClassOf 'cataract' http://purl.obolibrary.org/obo/MONDO_0022174 chromosome 12p deletion 'chromosome 12p deletion' SubClassOf 'syndrome caused by partial chromosomal deletion' http://purl.obolibrary.org/obo/MONDO_0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 'microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability' SubClassOf 'disease has feature' some 'Retinal dystrophy' 'microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability' SubClassOf 'Retinal dystrophy' 'microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability' SubClassOf 'Milroy disease' 'microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability' SubClassOf 'Syndromic lymphedema' 'microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability' SubClassOf 'neurovascular disease' 'microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability' SubClassOf 'Syndrome with microcephaly as major feature' http://purl.obolibrary.org/obo/MONDO_0044988 hip region disease 'hip region disease' SubClassOf 'disorder by anatomical region' http://purl.obolibrary.org/obo/MONDO_0007806 hypotrichosis 4 'hypotrichosis 4' SubClassOf 'hypotrichosis' 'hypotrichosis 4' SubClassOf 'Marie Unna hereditary hypotrichosis' 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/MONDO_0020782 chronic gingivitis 'chronic gingivitis' SubClassOf 'gingivitis' http://purl.obolibrary.org/obo/MONDO_0032795 intellectual developmental disorder 59 'intellectual developmental disorder 59' SubClassOf 'Autosomal dominant non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0032790 neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities 'neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities' SubClassOf 'Rare genetic neurological disorder' 'neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities' SubClassOf 'neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0032787 holoprosencephaly 12 with or without pancreatic agenesis 'holoprosencephaly 12 with or without pancreatic agenesis' SubClassOf 'Holoprosencephaly' http://purl.obolibrary.org/obo/HP_0011147 Typical absence seizure 'Typical absence seizure' SubClassOf 'Generalized non-motor (absence) seizure' http://purl.obolibrary.org/obo/MONDO_0032698 neurodevelopmental disorder with central and peripheral motor dysfunction 'neurodevelopmental disorder with central and peripheral motor dysfunction' SubClassOf 'Rare genetic neurological disorder' 'neurodevelopmental disorder with central and peripheral motor dysfunction' SubClassOf 'neurodevelopmental disorder' http://purl.obolibrary.org/obo/PATO_0001894 phenotypic sex 'phenotypic sex' SubClassOf 'biological sex' http://purl.obolibrary.org/obo/MONDO_0044685 autoimmune/inflammatory optic neuropathy 'autoimmune/inflammatory optic neuropathy' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/HP_0001667 Right ventricular hypertrophy 'Right ventricular hypertrophy' SubClassOf 'Abnormal heart morphology' http://purl.obolibrary.org/obo/MONDO_0020526 acute megakaryoblastic leukemia in down syndrome 'acute megakaryoblastic leukemia in down syndrome' SubClassOf 'acute megakaryoblastic leukaemia' http://purl.obolibrary.org/obo/MONDO_0009959 peroxisome biogenesis disorder type 3B 'peroxisome biogenesis disorder type 3B' SubClassOf 'has modifier' some 'non-classic presentation' 'peroxisome biogenesis disorder type 3B' SubClassOf 'peroxisome biogenesis disorder due to PEX12 defect' http://purl.obolibrary.org/obo/MONDO_0007349 familial cold autoinflammatory syndrome 1 'familial cold autoinflammatory syndrome 1' SubClassOf 'Familial cold urticaria' http://purl.obolibrary.org/obo/MONDO_0007399 TWIST1-related craniosynostosis 'TWIST1-related craniosynostosis' SubClassOf 'Isolated brachycephaly' 'TWIST1-related craniosynostosis' SubClassOf 'Isolated oxycephaly' 'TWIST1-related craniosynostosis' SubClassOf 'Isolated plagiocephaly' 'TWIST1-related craniosynostosis' SubClassOf 'Isolated scaphocephaly' 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_0003572 nasopharyngeal type undifferentiated carcinoma 'nasopharyngeal type undifferentiated carcinoma' SubClassOf 'large cell carcinoma' 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_0030866 neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities 'neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities' SubClassOf 'neurodevelopmental disorder' 'neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities' SubClassOf 'Rare genetic neurological disorder' http://purl.obolibrary.org/obo/MONDO_0054701 Kleefstra syndrome 2 'Kleefstra syndrome 2' SubClassOf 'Kleefstra syndrome' http://purl.obolibrary.org/obo/MONDO_0005784 hantavirus hemorrhagic fever with renal syndrome 'hantavirus hemorrhagic fever with renal syndrome' SubClassOf 'Hantavirus infectious disease' 'hantavirus hemorrhagic fever with renal syndrome' SubClassOf 'kidney disease' 'hantavirus hemorrhagic fever with renal syndrome' SubClassOf 'urinary tract infection' http://purl.obolibrary.org/obo/MONDO_0003157 disappearing bone disease 'disappearing bone disease' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0015007 spastic paraplegia, intellectual disability, nystagmus, and obesity; 'spastic paraplegia, intellectual disability, nystagmus, and obesity;' SubClassOf 'Syndromic obesity' 'spastic paraplegia, intellectual disability, nystagmus, and obesity;' SubClassOf 'congenital nervous system disorder' 'spastic paraplegia, intellectual disability, nystagmus, and obesity;' SubClassOf 'Autosomal dominant complex spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0011190 nephronophthisis 2 'nephronophthisis 2' SubClassOf 'Nephronophthisis' http://purl.obolibrary.org/obo/MONDO_0013862 immunodeficiency, common variable, 7 'immunodeficiency, common variable, 7' SubClassOf 'Common variable immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0001896 obstructive hydrocephalus 'obstructive hydrocephalus' SubClassOf 'brain disease' http://purl.obolibrary.org/obo/MONDO_0013891 amyotrophic lateral sclerosis type 18 'amyotrophic lateral sclerosis type 18' SubClassOf 'familial amyotrophic lateral sclerosis' http://purl.obolibrary.org/obo/MONDO_0001747 tibial collateral ligament bursitis 'tibial collateral ligament bursitis' SubClassOf 'enthesopathy' http://purl.obolibrary.org/obo/MONDO_0013733 accelerated tumor formation, susceptibility to 'accelerated tumor formation, susceptibility to' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0011106 facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome 'facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome' SubClassOf 'Lens position anomaly' http://purl.obolibrary.org/obo/HP_0031364 Ecchymosis 'Ecchymosis' SubClassOf 'Purpura' http://purl.obolibrary.org/obo/MONDO_0011138 systemic lupus erythematosus, susceptibility to, 1 'systemic lupus erythematosus, susceptibility to, 1' SubClassOf 'inherited disease susceptibility' 'systemic lupus erythematosus, susceptibility to, 1' SubClassOf 'predisposes towards' some 'systemic lupus erythematosus' http://purl.obolibrary.org/obo/MONDO_0001604 lagophthalmos 'lagophthalmos' SubClassOf 'eyelid disease' http://purl.obolibrary.org/obo/MONDO_0011014 pleuropulmonary blastoma 'pleuropulmonary blastoma' SubClassOf 'pulmonary blastoma' 'pleuropulmonary blastoma' SubClassOf 'childhood cancer' 'pleuropulmonary blastoma' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0001498 varicocele 'varicocele' SubClassOf 'scrotal disease' 'varicocele' SubClassOf 'pelvic varices' http://purl.obolibrary.org/obo/MONDO_0001592 prolapse of female genital organ 'prolapse of female genital organ' SubClassOf 'female reproductive system disease' http://purl.obolibrary.org/obo/MONDO_0013415 chromosome 17p13.1 deletion syndrome 'chromosome 17p13.1 deletion syndrome' SubClassOf 'syndrome caused by partial chromosomal deletion' http://purl.obolibrary.org/obo/MONDO_0001458 ulnar nerve lesion 'ulnar nerve lesion' SubClassOf 'ulnar neuropathy' 'ulnar nerve lesion' SubClassOf 'peripheral nerve lesion' http://purl.obolibrary.org/obo/MONDO_0013462 fucosyltransferase 6 deficiency 'fucosyltransferase 6 deficiency' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013237 susceptibility to mononeuropathy of the median nerve, mild 'susceptibility to mononeuropathy of the median nerve, mild' SubClassOf 'inherited disease susceptibility' http://purl.obolibrary.org/obo/MONDO_0001282 fallopian tube endometriosis 'fallopian tube endometriosis' SubClassOf 'fallopian tube disease' 'fallopian tube endometriosis' SubClassOf 'endometriosis' http://purl.obolibrary.org/obo/MONDO_0001294 Horner syndrome 'Horner syndrome' SubClassOf 'autonomic neuropathy' http://purl.obolibrary.org/obo/MONDO_0013286 immunodeficiency, common variable, 6 'immunodeficiency, common variable, 6' SubClassOf 'Common variable immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0013284 immunodeficiency, common variable, 4 'immunodeficiency, common variable, 4' SubClassOf 'Common variable immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0001332 palindromic rheumatism 'palindromic rheumatism' SubClassOf 'syndromic disease' 'palindromic rheumatism' SubClassOf 'hydrarthrosis' 'palindromic rheumatism' SubClassOf 'rheumatic disease' http://purl.obolibrary.org/obo/MONDO_0001157 dependent personality disorder 'dependent personality disorder' SubClassOf 'personality disorder' http://purl.obolibrary.org/obo/MONDO_0001169 spastic monoplegia 'spastic monoplegia' SubClassOf 'spastic cerebral palsy' http://purl.obolibrary.org/obo/MONDO_0001174 conjunctival vascular disease 'conjunctival vascular disease' SubClassOf 'ocular vascular disease' 'conjunctival vascular disease' SubClassOf 'Conjunctival Disorder' http://purl.obolibrary.org/obo/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 'nutritional or metabolic disease' 'hyperlipidemia (disease)' SubClassOf 'metabolic disease' http://purl.obolibrary.org/obo/MONDO_0018729 genetic vascular tumor 'genetic vascular tumor' EquivalentTo 'vascular neoplasm' and ('has modifier' some 'inherited') 'genetic vascular tumor' SubClassOf 'Genetic vascular anomaly' 'genetic vascular tumor' SubClassOf 'vascular neoplasm' http://purl.obolibrary.org/obo/MONDO_0018627 ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor 'ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor' SubClassOf 'ACTH-independent Cushing syndrome' 'ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor' EquivalentTo 'ACTH-independent Cushing syndrome' and ('disease arises from feature' some 'Cortisol-Producing Adrenal Cortex Adenoma') 'ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor' SubClassOf 'disease arises from feature' some 'Cortisol-Producing Adrenal Cortex Adenoma' http://purl.obolibrary.org/obo/MONDO_0016093 borderline epithelial tumor of ovary 'borderline epithelial tumor of ovary' SubClassOf 'ovarian epithelial tumor' http://purl.obolibrary.org/obo/MONDO_0043479 adenoviridae infectious disease 'adenoviridae infectious disease' SubClassOf 'viral disease' http://purl.obolibrary.org/obo/MONDO_0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome 'camptodactyly-arthropathy-coxa vara-pericarditis syndrome' SubClassOf 'hereditary connective tissue disorder' 'camptodactyly-arthropathy-coxa vara-pericarditis syndrome' SubClassOf 'has modifier' some 'rare' 'camptodactyly-arthropathy-coxa vara-pericarditis syndrome' SubClassOf 'autosomal recessive disease' 'camptodactyly-arthropathy-coxa vara-pericarditis syndrome' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'camptodactyly-arthropathy-coxa vara-pericarditis syndrome' SubClassOf 'rheumatic disease' http://purl.obolibrary.org/obo/MONDO_0018093 arbovirus fever 'arbovirus fever' SubClassOf 'has modifier' some 'rare' 'arbovirus fever' SubClassOf 'viral disease' http://purl.obolibrary.org/obo/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_0016767 cutaneous lichen planus 'cutaneous lichen planus' SubClassOf 'lichen planus' 'cutaneous lichen planus' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016629 hemorrhagic disorder due to a platelet anomaly 'hemorrhagic disorder due to a platelet anomaly' SubClassOf 'hemorrhagic disease' http://purl.obolibrary.org/obo/MONDO_0016635 thrombotic disorder due to a platelet anomaly 'thrombotic disorder due to a platelet anomaly' SubClassOf 'thrombotic disease' 'thrombotic disorder due to a platelet anomaly' SubClassOf 'blood coagulation disease' http://purl.obolibrary.org/obo/MONDO_0016632 thrombotic disorder due to a coagulation factors defect 'thrombotic disorder due to a coagulation factors defect' SubClassOf 'blood coagulation disease' 'thrombotic disorder due to a coagulation factors defect' SubClassOf 'thrombotic 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_0018865 striate palmoplantar keratoderma 'striate palmoplantar keratoderma' SubClassOf 'Isolated focal palmoplantar keratoderma' 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_0012287 Stickler syndrome, type I, nonsyndromic ocular 'Stickler syndrome, type I, nonsyndromic ocular' SubClassOf 'Stickler syndrome type 1' http://purl.obolibrary.org/obo/MONDO_0024297 nutritional or metabolic disease 'nutritional or metabolic disease' SubClassOf 'disease by cellular process disrupted' 'nutritional or metabolic disease' EquivalentTo 'metabolic disease' or 'nutritional disorder' http://purl.obolibrary.org/obo/MONDO_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_0020012 systemic or rheumatic disease 'systemic or rheumatic disease' SubClassOf '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_0000774 autoimmune neuropathy 'autoimmune neuropathy' SubClassOf 'autoimmune disease of peripheral nervous system' 'autoimmune neuropathy' SubClassOf 'peripheral neuropathy' 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_0020529 ACTH-independent Cushing syndrome 'ACTH-independent Cushing syndrome' SubClassOf 'Cushing syndrome' 'ACTH-independent Cushing syndrome' DisjointWith 'pituitary-dependent Cushing's disease' http://purl.obolibrary.org/obo/MONDO_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_0030703 autoimmune vasculitis 'autoimmune vasculitis' SubClassOf 'autoimmune disease of cardiovascular system' 'autoimmune vasculitis' SubClassOf 'hypersensitivity vasculitis' http://purl.obolibrary.org/obo/MONDO_0015119 bronchopulmonary tumor 'bronchopulmonary tumor' SubClassOf 'has modifier' some 'rare' 'bronchopulmonary tumor' SubClassOf 'respiratory tract neoplasm' http://purl.obolibrary.org/obo/MONDO_0011118 bilineal acute myeloid leukemia 'bilineal acute myeloid leukemia' SubClassOf 'myeloid leukemia' 'bilineal acute myeloid leukemia' SubClassOf 'acute leukemia of ambiguous lineage' 'bilineal acute myeloid leukemia' SubClassOf 'Acute Leukemia' 'bilineal acute myeloid leukemia' SubClassOf 'acute disease' 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' http://purl.obolibrary.org/obo/MONDO_0015938 systemic disease 'systemic disease' SubClassOf 'systemic or rheumatic disease'