141 68 0 http://www.ebi.ac.uk/efo/EFO_1000224 Duodenal Gastrin-Producing Neuroendocrine Tumor 'Duodenal Gastrin-Producing Neuroendocrine Tumor' SubClassOf 'digestive system disease' http://purl.obolibrary.org/obo/UBERON_0002405 immune system http://purl.obolibrary.org/obo/UBERON_0002204 DisjointWith 'immune system' http://www.ebi.ac.uk/efo/EFO_1000278 Gastric Squamous Cell Carcinoma 'Gastric Squamous Cell Carcinoma' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/UBERON_0002416 integumental system http://purl.obolibrary.org/obo/UBERON_0002204 DisjointWith 'integumental system' http://www.ebi.ac.uk/efo/EFO_1000289 Hemangiopericytic Neoplasm 'Hemangiopericytic Neoplasm' SubClassOf 'vascular disease' http://purl.obolibrary.org/obo/UBERON_0002423 hepatobiliary system http://purl.obolibrary.org/obo/UBERON_0002204 DisjointWith 'hepatobiliary system' http://www.ebi.ac.uk/efo/EFO_0000405 digestive system disease 'digestive system disease' EquivalentTo 'has_disease_location' some ('digestive system' or ('part of' some 'digestive system')) http://purl.obolibrary.org/obo/UBERON_0002390 hematopoietic system http://purl.obolibrary.org/obo/UBERON_0002204 DisjointWith 'hematopoietic system' http://www.ebi.ac.uk/efo/EFO_0000319 cardiovascular disease 'cardiovascular disease' EquivalentTo 'has_disease_location' some ('cardiovascular system' or ('part of' some 'cardiovascular system')) http://www.ebi.ac.uk/efo/EFO_1000305 Intimal Sarcoma 'Intimal Sarcoma' SubClassOf 'vascular disease' http://www.ebi.ac.uk/efo/EFO_1000304 Intestinal Type Adenocarcinoma 'Intestinal Type Adenocarcinoma' SubClassOf 'digestive system disease' http://www.orpha.net/ORDO/Orphanet_104006 Congenital intestinal disease due to an enzymatic defect 'Congenital intestinal disease due to an enzymatic defect' SubClassOf 'disease of catalytic activity' http://www.ebi.ac.uk/efo/EFO_0000618 nervous system disease 'nervous system disease' EquivalentTo 'has_disease_location' some ('nervous system' or ('part of' some 'nervous system')) 'nervous system disease' EquivalentTo 'disease' and ('has_disease_location' some ('nervous system' or ('part of' some 'nervous system'))) http://purl.obolibrary.org/obo/UBERON_0002294 biliary system http://purl.obolibrary.org/obo/UBERON_0002204 DisjointWith 'biliary system' http://www.ebi.ac.uk/efo/EFO_1000172 cervical squamous cell carcinoma 'cervical squamous cell carcinoma' SubClassOf 'has modifier' some 'rare' http://www.ebi.ac.uk/efo/EFO_0000540 immune system disease 'immune system disease' EquivalentTo 'has_disease_location' some 'immune system' 'immune system disease' EquivalentTo 'disease' and ('has_disease_location' some ('immune system' or ('part of' some 'immune system'))) http://purl.obolibrary.org/obo/UBERON_0002113 kidney 'kidney' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0011143 http://www.ebi.ac.uk/efo/EFO_0009065 calcium oxalate urolithiasis 'calcium oxalate urolithiasis' SubClassOf 'disease' 'calcium oxalate urolithiasis' SubClassOf 'urinary system disease' http://www.ebi.ac.uk/efo/EFO_0009087 non-typhoidal Salmonella bacteremia 'non-typhoidal Salmonella bacteremia' SubClassOf 'cardiovascular disease' 'non-typhoidal Salmonella bacteremia' SubClassOf 'salmonellosis' http://www.orpha.net/ORDO/Orphanet_238510 Lymphoproliferative syndrome 'Lymphoproliferative syndrome' SubClassOf 'hematologic disease' 'Lymphoproliferative syndrome' SubClassOf 'has_disease_location' some 'hematopoietic system' http://www.ebi.ac.uk/efo/EFO_0009434 death by undetermined cause 'death by undetermined cause' SubClassOf 'disease' 'death by undetermined cause' SubClassOf 'complication' http://www.ebi.ac.uk/efo/EFO_0009483 breast disease 'breast disease' EquivalentTo 'disease' and ('has_disease_location' some ('breast' or ('part of' some 'breast'))) http://purl.obolibrary.org/obo/UBERON_0000056 ureter 'ureter' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0036295 http://www.orpha.net/ORDO/Orphanet_35664 ALDH18A1-related De Barsy syndrome 'ALDH18A1-related De Barsy syndrome' SubClassOf 'Cutis laxa' 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 'Autosomal dominant non-syndromic intellectual disability' 'neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant' SubClassOf 'syndromic intellectual disability' 'neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant' SubClassOf 'autosomal dominant disease' 'neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant' SubClassOf 'Rare genetic neurological disorder' http://purl.obolibrary.org/obo/UBERON_0002539 pharyngeal arch 'pharyngeal arch' SubClassOf 'part of' some 'integumental system' http://www.orpha.net/ORDO/Orphanet_79389 Premature aging 'Premature aging' SubClassOf 'Rare genetic skin disease' 'Premature aging' SubClassOf 'skin disease' 'Premature aging' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_363618 LMNA-related cardiocutaneous progeria syndrome 'LMNA-related cardiocutaneous progeria syndrome' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0004608 cystic fibrosis associated meconium ileum 'cystic fibrosis associated meconium ileum' SubClassOf http://www.ebi.ac.uk/efo/EFO_0010238 http://www.ebi.ac.uk/efo/EFO_0004698 insomnia 'insomnia' SubClassOf 'cardioectodermal syndrome' 'insomnia' SubClassOf 'sleep disorder' http://www.ebi.ac.uk/efo/EFO_1000849 bronchial neoplasm 'bronchial neoplasm' SubClassOf 'bronchial disease' http://purl.obolibrary.org/obo/UBERON_0000383 musculature of body 'musculature of body' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0002204 http://www.ebi.ac.uk/efo/EFO_1000989 intestinal volvulus 'intestinal volvulus' SubClassOf 'digestive system disease' 'intestinal volvulus' SubClassOf 'disease' http://www.ebi.ac.uk/efo/EFO_1000945 gastric antral vascular ectasia 'gastric antral vascular ectasia' SubClassOf 'digestive system disease' http://www.ebi.ac.uk/efo/EFO_1000960 heartwater disease 'heartwater disease' SubClassOf 'animal disease' 'heartwater disease' SubClassOf 'ehrlichiosis' http://www.ebi.ac.uk/efo/EFO_1000969 hyperamylasemia 'hyperamylasemia' SubClassOf 'hematologic disease' 'hyperamylasemia' SubClassOf 'metabolic disease' 'hyperamylasemia' SubClassOf 'nutritional or metabolic disease' http://www.ebi.ac.uk/efo/EFO_1000782 altitude sickness 'altitude sickness' SubClassOf 'respiratory system disease' 'altitude sickness' SubClassOf 'injury' http://purl.obolibrary.org/obo/UBERON_0000949 endocrine system 'endocrine system' DisjointWith http://purl.obolibrary.org/obo/UBERON_0002204 http://purl.obolibrary.org/obo/UBERON_0000982 skeletal joint 'skeletal joint' SubClassOf 'anatomical structure' 'skeletal joint' SubClassOf http://purl.obolibrary.org/obo/UBERON_0004905 http://purl.obolibrary.org/obo/UBERON_0000990 reproductive system 'reproductive system' DisjointWith http://purl.obolibrary.org/obo/UBERON_0002204 http://www.ebi.ac.uk/efo/EFO_1000532 small intestinal adenocarcinoma 'small intestinal adenocarcinoma' SubClassOf 'has modifier' some 'rare' http://www.ebi.ac.uk/efo/EFO_0005222 avian influenza 'avian influenza' SubClassOf 'rare pulmonary disease' http://www.ebi.ac.uk/efo/EFO_0005246 hypersomnia 'hypersomnia' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/MONDO_0004731 central sleep apnea syndrome 'central sleep apnea syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0005534 delayed encephalopathy after acute carbon monoxide poisoning 'delayed encephalopathy after acute carbon monoxide poisoning' SubClassOf 'chemically-induced disorder' 'delayed encephalopathy after acute carbon monoxide poisoning' SubClassOf 'poisoning' http://www.orpha.net/ORDO/Orphanet_293633 PYCR1-related De Barsy syndrome 'PYCR1-related De Barsy syndrome' SubClassOf 'Cutis laxa' http://www.orpha.net/ORDO/Orphanet_165661 Genetic pancreatic disease 'Genetic pancreatic disease' SubClassOf 'pancreas disease' http://www.orpha.net/ORDO/Orphanet_165655 Genetic intestinal disease 'Genetic intestinal disease' SubClassOf 'digestive system disease' http://www.ebi.ac.uk/efo/EFO_0009658 adverse effect 'adverse effect' SubClassOf 'disease' 'adverse effect' SubClassOf 'complication' http://www.ebi.ac.uk/efo/EFO_0009682 pregnancy disorder 'pregnancy disorder' EquivalentTo 'disease' and ('realized_in' some ('pregnancy' or ('part of' some 'pregnancy'))) http://www.ebi.ac.uk/efo/EFO_0009690 urinary system disease 'urinary system disease' SubClassOf 'has_disease_location' some ('renal system' or ('part of' some 'renal system')) 'urinary system disease' EquivalentTo 'disease' and ('has_disease_location' some ('renal system' or ('part of' some 'renal system'))) http://www.ebi.ac.uk/efo/EFO_0009676 musculoskeletal system disease 'musculoskeletal system disease' EquivalentTo 'disease' and ('has_disease_location' some (http://purl.obolibrary.org/obo/UBERON_0002204 or ('part of' some http://purl.obolibrary.org/obo/UBERON_0002204))) http://purl.obolibrary.org/obo/UBERON_0004288 skeleton 'skeleton' DisjointWith http://purl.obolibrary.org/obo/UBERON_0004770 http://www.ebi.ac.uk/efo/EFO_0009605 pancreas disease 'pancreas disease' SubClassOf 'has_disease_location' some ('pancreas' or ('part of' some 'pancreas')) 'pancreas disease' EquivalentTo 'disease' and ('has_disease_location' some ('pancreas' or ('part of' some 'pancreas'))) http://www.ebi.ac.uk/efo/EFO_1002018 bronchial disease 'bronchial disease' EquivalentTo 'disease' and ('has_disease_location' some ('bronchus' or ('part of' some 'bronchus'))) http://www.ebi.ac.uk/efo/EFO_0009880 teratogenicity 'teratogenicity' SubClassOf 'disease' 'teratogenicity' SubClassOf 'congenital abnormality' 'teratogenicity' SubClassOf 'injury' http://www.ebi.ac.uk/efo/EFO_0007229 cryptococcosis 'cryptococcosis' SubClassOf 'immune system disease' http://www.ebi.ac.uk/efo/EFO_0007212 coccidiosis 'coccidiosis' SubClassOf 'digestive system disease' http://www.ebi.ac.uk/efo/EFO_0007246 echinostomiasis 'echinostomiasis' SubClassOf 'digestive system disease' http://www.ebi.ac.uk/efo/EFO_0007234 dicrocoeliasis 'dicrocoeliasis' SubClassOf 'digestive system disease' http://www.ebi.ac.uk/efo/EFO_0007233 diaphragm disease 'diaphragm disease' SubClassOf 'has_disease_location' some ('diaphragm' or ('part of' some 'diaphragm')) 'diaphragm disease' EquivalentTo 'disease' and ('has_disease_location' some ('diaphragm' or ('part of' some 'diaphragm'))) http://www.ebi.ac.uk/efo/EFO_0007251 endocardial fibroelastosis 'endocardial fibroelastosis' SubClassOf 'cardiovascular disease' http://www.ebi.ac.uk/efo/EFO_0007256 enzootic pneumonia of calves 'enzootic pneumonia of calves' SubClassOf 'pneumonia' 'enzootic pneumonia of calves' SubClassOf 'animal disease' http://www.ebi.ac.uk/efo/EFO_0007127 actinobacillosis 'actinobacillosis' SubClassOf 'animal disease' 'actinobacillosis' SubClassOf 'Actinobacillus infectious disease' 'actinobacillosis' SubClassOf 'commensal bacterial infectious disease' http://www.ebi.ac.uk/efo/EFO_0007132 acute hemorrhagic leukoencephalitis 'acute hemorrhagic leukoencephalitis' SubClassOf 'vascular disease' http://www.ebi.ac.uk/efo/EFO_0007139 aleutian mink disease 'aleutian mink disease' SubClassOf 'vascular disease' http://www.ebi.ac.uk/efo/EFO_0007155 ascaridiasis 'ascaridiasis' SubClassOf 'digestive system disease' http://www.ebi.ac.uk/efo/EFO_0007154 ascariasis 'ascariasis' SubClassOf 'digestive system disease' http://www.ebi.ac.uk/efo/EFO_0007157 aspergillosis 'aspergillosis' SubClassOf 'immune system disease' http://www.ebi.ac.uk/efo/EFO_0007190 campylobacteriosis 'campylobacteriosis' SubClassOf 'digestive system disease' http://www.orpha.net/ORDO/Orphanet_36387 Generalized epilepsy with febrile seizures-plus 'Generalized epilepsy with febrile seizures-plus' SubClassOf 'Infantile epilepsy syndrome' 'Generalized epilepsy with febrile seizures-plus' SubClassOf 'generalised epilepsy' 'Generalized epilepsy with febrile seizures-plus' SubClassOf 'Infantile epilepsy syndrome' 'Generalized epilepsy with febrile seizures-plus' SubClassOf 'epilepsy' http://www.ebi.ac.uk/efo/EFO_0007448 pneumocystosis 'pneumocystosis' SubClassOf 'immune system disease' http://www.ebi.ac.uk/efo/EFO_0007434 pharyngoconjunctival fever 'pharyngoconjunctival fever' SubClassOf 'respiratory system disease' 'pharyngoconjunctival fever' SubClassOf 'has_disease_location' some ('conjunctiva' or ('part of' some 'conjunctiva')) 'pharyngoconjunctival fever' SubClassOf 'has_disease_location' some ('chordate pharynx' or ('part of' some 'chordate pharynx')) http://www.ebi.ac.uk/efo/EFO_0007431 peste des petits ruminants infectious disease 'peste des petits ruminants infectious disease' SubClassOf 'Morbillivirus infectious disease' 'peste des petits ruminants infectious disease' SubClassOf 'animal disease' http://www.ebi.ac.uk/efo/EFO_0007462 REM sleep behavior disorder 'REM sleep behavior disorder' SubClassOf 'sleep disorder' http://www.ebi.ac.uk/efo/EFO_0007454 postpoliomyelitis syndrome 'postpoliomyelitis syndrome' SubClassOf 'musculoskeletal system disease' http://www.ebi.ac.uk/efo/EFO_0007497 staphyloenterotoxemia 'staphyloenterotoxemia' SubClassOf 'digestive system disease' http://www.ebi.ac.uk/efo/EFO_0007400 oesophagostomiasis 'oesophagostomiasis' SubClassOf 'digestive system disease' http://www.ebi.ac.uk/efo/EFO_0007420 paratyphoid fever 'paratyphoid fever' SubClassOf 'digestive system disease' http://www.ebi.ac.uk/efo/EFO_0007326 infectious mononucleosis 'infectious mononucleosis' SubClassOf 'respiratory system disease' 'infectious mononucleosis' SubClassOf 'has_disease_location' some ('chordate pharynx' or ('part of' some 'chordate pharynx')) http://www.ebi.ac.uk/efo/EFO_0007317 hymenolepiasis 'hymenolepiasis' SubClassOf 'digestive system disease' http://www.ebi.ac.uk/efo/EFO_0007366 microsporidiosis 'microsporidiosis' SubClassOf 'immune system disease' http://www.ebi.ac.uk/efo/EFO_0007393 neuroaspergillosis 'neuroaspergillosis' SubClassOf 'immune system disease' http://www.ebi.ac.uk/efo/EFO_0007390 necatoriasis 'necatoriasis' SubClassOf 'digestive system disease' http://www.ebi.ac.uk/efo/EFO_0007304 hepatitis D 'hepatitis D' SubClassOf 'viral human hepatitis infection' http://www.ebi.ac.uk/efo/EFO_0007524 trichuriasis 'trichuriasis' SubClassOf 'digestive system disease' http://www.ebi.ac.uk/efo/EFO_0007542 visna 'visna' SubClassOf 'animal disease' 'visna' SubClassOf 'Lentivirus Infections' http://purl.obolibrary.org/obo/UBERON_0001007 digestive system 'digestive system' DisjointWith http://purl.obolibrary.org/obo/UBERON_0002204 http://purl.obolibrary.org/obo/UBERON_0001008 renal system 'renal system' DisjointWith http://purl.obolibrary.org/obo/UBERON_0002204 http://purl.obolibrary.org/obo/UBERON_0001009 circulatory system 'circulatory system' DisjointWith http://purl.obolibrary.org/obo/UBERON_0002204 http://purl.obolibrary.org/obo/UBERON_0001004 respiratory system 'respiratory system' DisjointWith http://purl.obolibrary.org/obo/UBERON_0002204 http://purl.obolibrary.org/obo/UBERON_0001016 nervous system 'nervous system' DisjointWith http://purl.obolibrary.org/obo/UBERON_0002204 http://www.orpha.net/ORDO/Orphanet_156601 Rare genetic hepatic disease 'Rare genetic hepatic disease' SubClassOf 'digestive system disease' http://purl.obolibrary.org/obo/UBERON_0001033 gustatory system 'gustatory system' DisjointWith http://purl.obolibrary.org/obo/UBERON_0002204 http://www.orpha.net/ORDO/Orphanet_2500 Acrogeria 'Acrogeria' SubClassOf 'genetic skin disease' http://www.ebi.ac.uk/efo/EFO_1001344 Hemarthrosis 'Hemarthrosis' SubClassOf 'hematologic disease' http://www.ebi.ac.uk/efo/EFO_1001354 Kleine-Levin Syndrome 'Kleine-Levin Syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_1001373 Multiple Organ Failure 'Multiple Organ Failure' SubClassOf 'disease' 'Multiple Organ Failure' SubClassOf 'complication' http://www.ebi.ac.uk/efo/EFO_1001291 ciguatera poisoning 'ciguatera poisoning' SubClassOf 'digestive system disease' 'ciguatera poisoning' SubClassOf 'poisoning' 'ciguatera poisoning' SubClassOf 'poisoning' http://www.orpha.net/ORDO/Orphanet_2847 Pericardial and diaphragmatic defect 'Pericardial and diaphragmatic defect' SubClassOf 'respiratory system disease' 'Pericardial and diaphragmatic defect' SubClassOf 'muscular disease' 'Pericardial and diaphragmatic defect' SubClassOf 'diaphragm disease' http://www.ebi.ac.uk/efo/EFO_1001206 syphilitic aortitis 'syphilitic aortitis' SubClassOf 'vascular disease' http://www.ebi.ac.uk/efo/EFO_1001233 variant Creutzfeldt-Jakob disease 'variant Creutzfeldt-Jakob disease' SubClassOf 'prion disease' 'variant Creutzfeldt-Jakob disease' SubClassOf 'has_disease_location' some 'nervous system' 'variant Creutzfeldt-Jakob disease' SubClassOf 'Creutzfeldt Jacob Disease' http://purl.obolibrary.org/obo/UBERON_0001434 skeletal system 'skeletal system' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0002204 'skeletal system' DisjointWith http://purl.obolibrary.org/obo/UBERON_0002204 http://www.orpha.net/ORDO/Orphanet_2047 Flynn-Aird syndrome 'Flynn-Aird syndrome' SubClassOf 'Rare genetic neurological disorder' 'Flynn-Aird syndrome' SubClassOf 'autosomal dominant disease' http://www.orpha.net/ORDO/Orphanet_2108 Hallermann-Streiff syndrome 'Hallermann-Streiff syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' 'Hallermann-Streiff syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'Hallermann-Streiff syndrome' SubClassOf 'Slender bone dysplasia' 'Hallermann-Streiff syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Hallermann-Streiff syndrome' SubClassOf 'Ectodermal malformation syndrome associated with ocular features' 'Hallermann-Streiff syndrome' SubClassOf 'Craniofacial anomaly with cataract' 'Hallermann-Streiff syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Hallermann-Streiff syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Hallermann-Streiff syndrome' SubClassOf 'Congenital absence of the eyebrow/eyelashes' 'Hallermann-Streiff syndrome' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_1001191 steatitis 'steatitis' SubClassOf 'nutritional deficiency disease' 'steatitis' SubClassOf 'animal disease' http://www.orpha.net/ORDO/Orphanet_379 Chronic granulomatous disease 'Chronic granulomatous disease' SubClassOf 'disease of catalytic activity' 'Chronic granulomatous disease' SubClassOf 'Congenital intestinal disease due to an enzymatic defect' http://www.orpha.net/ORDO/Orphanet_325357 46,XY disorder of sex development due to impaired androgen production '46,XY disorder of sex development due to impaired androgen production' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_325055 46,XX disorder of gonadal development '46,XX disorder of gonadal development' SubClassOf 'has modifier' some 'rare' http://www.ebi.ac.uk/efo/EFO_0001064 Down syndrome 'Down syndrome' SubClassOf 'Moyamoya syndrome' 'Down syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Down syndrome' SubClassOf 'chromosomal anomaly with epilepsy as a major feature' 'Down syndrome' SubClassOf 'Rare syndrome with cardiac malformations' 'Down syndrome' SubClassOf 'congenital nervous system disorder' 'Down syndrome' SubClassOf 'cardiovascular disease' 'Down syndrome' SubClassOf 'Rare genetic neurological disorder' 'Down syndrome' SubClassOf 'epilepsy' http://purl.obolibrary.org/obo/UBERON_0001844 cochlea 'cochlea' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0001839 http://www.orpha.net/ORDO/Orphanet_325118 46,XY disorder of gonadal development '46,XY disorder of gonadal development' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_325109 Syndrome with 46,XX disorder of sex development 'Syndrome with 46,XX disorder of sex development' SubClassOf 'has modifier' some 'rare' http://www.ebi.ac.uk/efo/EFO_0003918 obstructive sleep apnea 'obstructive sleep apnea' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_325690 Genetic disorder of sex development 'Genetic disorder of sex development' SubClassOf 'has modifier' some 'rare' http://www.ebi.ac.uk/efo/EFO_0003871 tongue neoplasm 'tongue neoplasm' SubClassOf 'digestive system disease' http://www.ebi.ac.uk/efo/EFO_0003895 epistaxis 'epistaxis' SubClassOf 'vascular disease' 'epistaxis' SubClassOf 'hemorrhage' http://www.ebi.ac.uk/efo/EFO_1001941 bronchioloalveolar carcinoma 'bronchioloalveolar carcinoma' SubClassOf 'bronchial disease' http://www.ebi.ac.uk/efo/EFO_0003844 ureteral neoplasm 'ureteral neoplasm' SubClassOf 'urinary system disease' http://www.orpha.net/ORDO/Orphanet_790 Retinoblastoma 'Retinoblastoma' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_2962 De Barsy syndrome 'De Barsy syndrome' SubClassOf 'Cataract associated with a metabolic disease' 'De Barsy syndrome' SubClassOf 'Syndromic corneal dystrophy' 'De Barsy syndrome' SubClassOf 'Disorder of proline metabolism' 'De Barsy syndrome' SubClassOf 'Neurometabolic disease' 'De Barsy syndrome' SubClassOf 'Cerebral organic aciduria' 'De Barsy syndrome' SubClassOf 'Developmental anomaly of metabolic origin' 'De Barsy syndrome' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' 'De Barsy syndrome' SubClassOf 'Metabolic disease with cataract' 'De Barsy syndrome' SubClassOf 'congenital nervous system disorder' 'De Barsy syndrome' SubClassOf 'Cutis laxa' 'De Barsy syndrome' SubClassOf 'autosomal recessive disease' http://www.ebi.ac.uk/efo/EFO_1001798 immunoproliferative small intestinal disease 'immunoproliferative small intestinal disease' SubClassOf 'digestive system disease' http://www.orpha.net/ORDO/Orphanet_325546 Sex chromosome disorder of sex development 'Sex chromosome disorder of sex development' SubClassOf 'has modifier' some 'rare' http://www.ebi.ac.uk/efo/EFO_1001847 spinal subdural hematoma 'spinal subdural hematoma' SubClassOf 'hematologic disease' http://www.ebi.ac.uk/efo/EFO_1001860 thymus hyperplasia 'thymus hyperplasia' SubClassOf 'immune system disease' http://www.ebi.ac.uk/efo/EFO_1001880 chemotherapy-induced gastrointestinal mucositis 'chemotherapy-induced gastrointestinal mucositis' SubClassOf 'digestive system disease' 'chemotherapy-induced gastrointestinal mucositis' SubClassOf 'disease' http://www.ebi.ac.uk/efo/EFO_1001803 lingual thyroid 'lingual thyroid' SubClassOf 'digestive system disease' http://purl.obolibrary.org/obo/UBERON_0009970 epithelium of pancreatic duct 'epithelium of pancreatic duct' EquivalentTo 'epithelium' and ('part of' some http://purl.obolibrary.org/obo/UBERON_0007329) 'epithelium of pancreatic duct' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0007329 http://www.ebi.ac.uk/efo/EFO_0006513 hereditary hemochromatosis type 1 'hereditary hemochromatosis type 1' SubClassOf 'hepatobiliary disease' 'hereditary hemochromatosis type 1' SubClassOf 'digestive system disease' http://www.orpha.net/ORDO/Orphanet_233655 Rare genetic vascular disease 'Rare genetic vascular disease' SubClassOf 'vascular disease' http://www.ebi.ac.uk/efo/EFO_0006930 brain volume measurement 'brain volume measurement' SubClassOf 'nervous system measurement' http://www.ebi.ac.uk/efo/EFO_0004284 upper aerodigestive tract neoplasm 'upper aerodigestive tract neoplasm' SubClassOf 'digestive system disease' 'upper aerodigestive tract neoplasm' SubClassOf 'has_disease_location' some ('digestive system' or ('part of' some 'digestive system')) http://www.ebi.ac.uk/efo/EFO_0004264 vascular disease 'vascular disease' EquivalentTo 'disease' and ('has_disease_location' some ('blood vessel' or ('part of' some 'blood vessel'))) 'vascular disease' EquivalentTo 'disease' and ('has_disease_location' some ('vasculature' or ('part of' some 'vasculature'))) http://www.ebi.ac.uk/efo/EFO_0004597 variant Creutzfeld Jacob disease 'variant Creutzfeld Jacob disease' SubClassOf 'has_disease_location' some 'nervous system' 'variant Creutzfeld Jacob disease' SubClassOf 'Creutzfeldt Jacob Disease' 'variant Creutzfeld Jacob disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004472 C57BL/6 'C57BL/6' SubClassOf 'C57BL' 'C57BL/6' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0008568 Sleep Disorder 'Sleep Disorder' SubClassOf 'cardioectodermal syndrome' 'Sleep Disorder' SubClassOf 'sleep disorder' http://www.ebi.ac.uk/efo/EFO_0008403 susceptibility to mononucleosis measurement 'susceptibility to mononucleosis measurement' SubClassOf 'respiratory disease biomarker' http://www.orpha.net/ORDO/Orphanet_98087 Syndrome with 46,XY disorder of sex development 'Syndrome with 46,XY disorder of sex development' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_98056 Rare genetic renal disease 'Rare genetic renal disease' SubClassOf 'urinary system disease' http://www.orpha.net/ORDO/Orphanet_103909 Diarrhea-vomiting due to trehalase deficiency 'Diarrhea-vomiting due to trehalase deficiency' SubClassOf 'disease of catalytic activity' http://www.orpha.net/ORDO/Orphanet_103907 Chronic diarrhea due to glucoamylase deficiency 'Chronic diarrhea due to glucoamylase deficiency' SubClassOf 'disease of catalytic activity' http://purl.obolibrary.org/obo/UBERON_0002204 musculoskeletal system 'musculoskeletal system' DisjointWith 'biliary system' 'musculoskeletal system' DisjointWith 'hematopoietic system' 'musculoskeletal system' DisjointWith 'integumental system' 'respiratory system' DisjointWith 'musculoskeletal system' 'musculoskeletal system' DisjointWith 'immune system' 'reproductive system' DisjointWith 'musculoskeletal system' 'endocrine system' DisjointWith 'musculoskeletal system' 'nervous system' DisjointWith 'musculoskeletal system' 'circulatory system' DisjointWith 'musculoskeletal system' 'musculoskeletal system' DisjointWith 'hepatobiliary system' 'musculoskeletal system' SubClassOf 'anatomical system' 'renal system' DisjointWith 'musculoskeletal system' 'gustatory system' DisjointWith 'musculoskeletal system' 'skeletal system' DisjointWith 'musculoskeletal system' 'digestive system' DisjointWith 'musculoskeletal system' http://purl.obolibrary.org/obo/CHEBI_18035 diglyceride 'diglyceride' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/UBERON_0004905 articulation 'articulation' SubClassOf 'skeleton structure' 'articulation' SubClassOf 'part of' some 'articular system' http://purl.obolibrary.org/obo/UBERON_0004770 articular system 'skeleton' DisjointWith 'articular system' 'articular system' SubClassOf 'part of' some 'skeletal system' 'articular system' SubClassOf 'skeleton structure' http://purl.obolibrary.org/obo/UBERON_0036295 renal pelvis/ureter 'renal pelvis/ureter' SubClassOf 'part of' some 'upper urinary tract' 'renal pelvis/ureter' SubClassOf 'anatomical entity' http://www.ebi.ac.uk/efo/EFO_0010219 aldosterone measurement 'aldosterone measurement' SubClassOf 'hormone measurement' 'aldosterone measurement' SubClassOf 'is_about' some 'aldosterone' http://www.ebi.ac.uk/efo/EFO_0010235 response to proton-pump inhibitor 'response to proton-pump inhibitor' SubClassOf 'response to drug' 'response to proton-pump inhibitor' SubClassOf 'has_input' some 'EC 3.6.3.10 (H(+)/K(+)-exchanging ATPase) inhibitor' http://www.ebi.ac.uk/efo/EFO_0010233 genotoxic compound exposure measurement 'genotoxic compound exposure measurement' SubClassOf 'is_about' some 'chromosomal aberration' 'genotoxic compound exposure measurement' SubClassOf 'is_about' some 'cancer' 'genotoxic compound exposure measurement' SubClassOf 'environmental exposure measurement' http://www.ebi.ac.uk/efo/EFO_0010234 viral subtype carrier status 'viral subtype carrier status' SubClassOf 'carrier status' http://www.ebi.ac.uk/efo/EFO_0010231 sterol measurement 'sterol measurement' SubClassOf 'cardiovascular disease biomarker measurement' 'sterol measurement' SubClassOf 'is_about' some 'sterol' 'sterol measurement' SubClassOf 'is_about' some 'cardiovascular disease' 'sterol measurement' SubClassOf 'lipid measurement' http://www.ebi.ac.uk/efo/EFO_0010232 osteocalcin measurement 'osteocalcin measurement' SubClassOf 'is_about' some 'osteoblast' 'osteocalcin measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0010230 phosphatidylinositol measurement 'phosphatidylinositol measurement' SubClassOf 'is_about' some 'cardiovascular disease' 'phosphatidylinositol measurement' SubClassOf 'is_about' some 'phosphatidylinositol' 'phosphatidylinositol measurement' SubClassOf 'cardiovascular disease biomarker measurement' 'phosphatidylinositol measurement' SubClassOf 'lipid measurement' http://www.ebi.ac.uk/efo/EFO_0010239 cortisol:DHEAS ratio measurement 'cortisol:DHEAS ratio measurement' SubClassOf 'is_about' some 'cortisol' 'cortisol:DHEAS ratio measurement' SubClassOf 'hormone measurement' 'cortisol:DHEAS ratio measurement' SubClassOf 'is_about' some 'dehydroepiandrosterone' http://www.ebi.ac.uk/efo/EFO_0010238 perinatal disease 'perinatal disease' SubClassOf 'disease' http://www.ebi.ac.uk/efo/EFO_0010224 lysophosphatidylcholine measurement 'lysophosphatidylcholine measurement' SubClassOf 'cardiovascular disease biomarker measurement' 'lysophosphatidylcholine measurement' SubClassOf 'lipid measurement' 'lysophosphatidylcholine measurement' SubClassOf 'is_about' some 'lysophosphatidylcholine' 'lysophosphatidylcholine measurement' SubClassOf 'is_about' some 'cardiovascular disease' http://www.ebi.ac.uk/efo/EFO_0010225 lysophosphatidylethanolamine measurement 'lysophosphatidylethanolamine measurement' SubClassOf 'is_about' some 'lysophosphatidylethanolamine' 'lysophosphatidylethanolamine measurement' SubClassOf 'lipid measurement' 'lysophosphatidylethanolamine measurement' SubClassOf 'cardiovascular disease biomarker measurement' 'lysophosphatidylethanolamine measurement' SubClassOf 'is_about' some 'cardiovascular disease' http://www.ebi.ac.uk/efo/EFO_0010222 ceramide measurement 'ceramide measurement' SubClassOf 'is_about' some 'ceramide' 'ceramide measurement' SubClassOf 'lipid measurement' 'ceramide measurement' SubClassOf 'is_about' some 'cardiovascular disease' 'ceramide measurement' SubClassOf 'cardiovascular disease biomarker measurement' http://www.ebi.ac.uk/efo/EFO_0010223 diglyceride measurement 'diglyceride measurement' SubClassOf 'lipid measurement' 'diglyceride measurement' SubClassOf 'is_about' some 'diglyceride' 'diglyceride measurement' SubClassOf 'is_about' some 'cardiovascular disease' 'diglyceride measurement' SubClassOf 'cardiovascular disease biomarker measurement' http://www.ebi.ac.uk/efo/EFO_0010220 17-hydroxyprogesterone '17-hydroxyprogesterone' SubClassOf 'is_about' some '17alpha-hydroxyprogesterone' '17-hydroxyprogesterone' SubClassOf 'hormone measurement' http://www.ebi.ac.uk/efo/EFO_0010221 systemising measurement 'systemising measurement' SubClassOf 'personality trait measurement' 'systemising measurement' SubClassOf 'mental or behavioural disorder biomarker' 'systemising measurement' SubClassOf 'is_about' some 'autism spectrum disorder' http://www.ebi.ac.uk/efo/EFO_0010228 phosphatidylethanolamine measurement 'phosphatidylethanolamine measurement' SubClassOf 'cardiovascular disease biomarker measurement' 'phosphatidylethanolamine measurement' SubClassOf 'lipid measurement' 'phosphatidylethanolamine measurement' SubClassOf 'is_about' some 'cardiovascular disease' 'phosphatidylethanolamine measurement' SubClassOf 'is_about' some 'phosphatidylethanolamine' http://www.ebi.ac.uk/efo/EFO_0010229 phosphatidylethanolamine ether measurement 'phosphatidylethanolamine ether measurement' SubClassOf 'is_about' some 'cardiovascular disease' 'phosphatidylethanolamine ether measurement' SubClassOf 'cardiovascular disease biomarker measurement' 'phosphatidylethanolamine ether measurement' SubClassOf 'lipid measurement' http://www.ebi.ac.uk/efo/EFO_0010226 phosphatidylcholine measurement 'phosphatidylcholine measurement' SubClassOf 'lipid measurement' 'phosphatidylcholine measurement' SubClassOf 'is_about' some 'cardiovascular disease' 'phosphatidylcholine measurement' SubClassOf 'cardiovascular disease biomarker measurement' 'phosphatidylcholine measurement' SubClassOf 'is_about' some 'phosphatidylcholine' http://www.ebi.ac.uk/efo/EFO_0010227 phosphatidylcholine ether measurement 'phosphatidylcholine ether measurement' SubClassOf 'is_about' some 'cardiovascular disease' 'phosphatidylcholine ether measurement' SubClassOf 'lipid measurement' 'phosphatidylcholine ether measurement' SubClassOf 'cardiovascular disease biomarker measurement' http://www.ebi.ac.uk/efo/EFO_0010257 global developmental delay, progressive ataxia, and elevated glutamine 'global developmental delay, progressive ataxia, and elevated glutamine' SubClassOf 'autosomal recessive disease' 'global developmental delay, progressive ataxia, and elevated glutamine' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0010258 inflammatory bowel disease, immunodeficiency, and encephalopathy 'inflammatory bowel disease, immunodeficiency, and encephalopathy' SubClassOf 'autosomal recessive disease' 'inflammatory bowel disease, immunodeficiency, and encephalopathy' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0010255 metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression 'metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression' SubClassOf 'autosomal recessive disease' http://www.ebi.ac.uk/efo/EFO_0010256 neurodegeneration, childhood-onset, with cerebellar atrophy 'neurodegeneration, childhood-onset, with cerebellar atrophy' SubClassOf 'autosomal recessive disease' http://www.ebi.ac.uk/efo/EFO_0010253 Menke-Hennekam syndrome 2 'Menke-Hennekam syndrome 2' SubClassOf 'syndromic disease' 'Menke-Hennekam syndrome 2' SubClassOf 'autosomal dominant disease' http://www.ebi.ac.uk/efo/EFO_0010254 Popov-Chang syndrome 'Popov-Chang syndrome' SubClassOf 'syndromic disease' 'Popov-Chang syndrome' SubClassOf 'autosomal dominant disease' http://www.ebi.ac.uk/efo/EFO_0010251 spinocerebellar ataxia 48 'spinocerebellar ataxia 48' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' http://www.ebi.ac.uk/efo/EFO_0010252 Menke-Hennekam syndrome 1 'Menke-Hennekam syndrome 1' SubClassOf 'autosomal dominant disease' 'Menke-Hennekam syndrome 1' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0010250 polydactyly, postaxial, A9 'polydactyly, postaxial, A9' SubClassOf 'Postaxial polydactyly type A' http://www.ebi.ac.uk/efo/EFO_0010259 intellectual developmental disorder with macrocephaly, seizures, and speech delay 'intellectual developmental disorder with macrocephaly, seizures, and speech delay' SubClassOf 'syndromic disease' 'intellectual developmental disorder with macrocephaly, seizures, and speech delay' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0010246 recurrent 'recurrent' SubClassOf 'disease characteristic' http://www.ebi.ac.uk/efo/EFO_0010247 incident 'incident' SubClassOf 'clinical modifier' http://www.ebi.ac.uk/efo/EFO_0010244 uveal melanoma disease severity 'uveal melanoma disease severity' SubClassOf 'is_about' some 'Uveal Melanoma' 'uveal melanoma disease severity' SubClassOf 'cancer biomarker measurement' http://www.ebi.ac.uk/efo/EFO_0010245 oxytocin measurement 'oxytocin measurement' SubClassOf 'is_about' some 'oxytocin' 'oxytocin measurement' SubClassOf 'hormone measurement' http://www.ebi.ac.uk/efo/EFO_0010242 beta globulin measurement 'beta globulin measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0010243 inorganic ion measurement 'inorganic ion measurement' SubClassOf 'measurement' http://www.ebi.ac.uk/efo/EFO_0010240 dehydroepiandrosterone measurement 'dehydroepiandrosterone measurement' SubClassOf 'hormone measurement' 'dehydroepiandrosterone measurement' SubClassOf 'is_about' some 'dehydroepiandrosterone' http://www.ebi.ac.uk/efo/EFO_0010241 galectin-3-binding protein measurement 'galectin-3-binding protein measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0010248 spinocerebellar ataxia, autosomal recessive, 27 'spinocerebellar ataxia, autosomal recessive, 27' SubClassOf 'Autosomal recessive cerebellar ataxia' http://www.ebi.ac.uk/efo/EFO_0010249 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 'spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3' SubClassOf 'Autosomal recessive cerebellar ataxia' http://www.ebi.ac.uk/efo/EFO_0010268 brain abnormalities, neurodegeneration, and dysosteosclerosis 'brain abnormalities, neurodegeneration, and dysosteosclerosis' SubClassOf 'autosomal recessive disease' 'brain abnormalities, neurodegeneration, and dysosteosclerosis' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0010266 Charcot-Marie-Tooth disease type 1G 'Charcot-Marie-Tooth disease type 1G' SubClassOf 'Charcot-Marie-Tooth disease type 1' http://www.ebi.ac.uk/efo/EFO_0010267 autosomal dominant intermediate Charcot-Marie-Tooth disease type G 'autosomal dominant intermediate Charcot-Marie-Tooth disease type G' SubClassOf 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' http://www.ebi.ac.uk/efo/EFO_0010264 spinal muscular atrophy, lower extremity-predominant, 2B, prenatal onset, autosomal dominant 'spinal muscular atrophy, lower extremity-predominant, 2B, prenatal onset, autosomal dominant' SubClassOf 'autosomal dominant disease' 'spinal muscular atrophy, lower extremity-predominant, 2B, prenatal onset, autosomal dominant' SubClassOf 'Genetic motor neuron disease' 'spinal muscular atrophy, lower extremity-predominant, 2B, prenatal onset, autosomal dominant' SubClassOf 'spinal muscular atrophy' http://www.ebi.ac.uk/efo/EFO_0010262 leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate 'leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate' SubClassOf 'autosomal recessive disease' http://www.ebi.ac.uk/efo/EFO_0010263 gastrointestinal ulceration, recurrent, with dysfunctional platelets 'gastrointestinal ulceration, recurrent, with dysfunctional platelets' SubClassOf 'digestive system disease' 'gastrointestinal ulceration, recurrent, with dysfunctional platelets' SubClassOf 'autosomal recessive disease' http://www.ebi.ac.uk/efo/EFO_0010260 global developmental delay with or without impaired intellectual development 'global developmental delay with or without impaired intellectual development' SubClassOf 'syndromic disease' 'global developmental delay with or without impaired intellectual development' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0010261 Paganini-Miozzo syndrome 'Paganini-Miozzo syndrome' SubClassOf 'syndromic disease' 'Paganini-Miozzo syndrome' SubClassOf 'X-linked recessive disease' http://www.ebi.ac.uk/efo/EFO_0010178 non-lobar intracerebral hemorrhage 'non-lobar intracerebral hemorrhage' SubClassOf 'has_disease_location' some ('telencephalon' or ('part of' some 'telencephalon')) 'non-lobar intracerebral hemorrhage' SubClassOf 'intracerebral hemorrhage' http://www.ebi.ac.uk/efo/EFO_0010177 lobar intracerebral hemorrhage 'lobar intracerebral hemorrhage' SubClassOf 'intracerebral hemorrhage' http://purl.obolibrary.org/obo/CHEBI_60479 lysophosphatidylcholine 'lysophosphatidylcholine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_7872 oxytocin 'oxytocin' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_64574 lysophosphatidylethanolamine 'lysophosphatidylethanolamine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/MONDO_0012657 MGS 'MGS' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/CHEBI_49200 EC 3.6.3.10 (H(+)/K(+)-exchanging ATPase) inhibitor 'EC 3.6.3.10 (H(+)/K(+)-exchanging ATPase) inhibitor' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_15889 sterol 'sterol' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_17252 17alpha-hydroxyprogesterone '17alpha-hydroxyprogesterone' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/UBERON_0011143 upper urinary tract 'upper urinary tract' SubClassOf 'anatomical entity' 'upper urinary tract' SubClassOf 'part of' some 'renal system' http://purl.obolibrary.org/obo/MONDO_0020845 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 5 'progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 5' SubClassOf 'progressive external ophthalmoplegia with mitochondrial DNA deletions' http://purl.obolibrary.org/obo/UBERON_0001839 bony labyrinth 'bony labyrinth' SubClassOf 'part of' some 'internal ear' 'bony labyrinth' SubClassOf 'anatomical structure' http://www.ebi.ac.uk/efo/http://purl.obolibrary.org/obo/MONDO_0018906 follicular lymphoma 'follicular lymphoma' SubClassOf 'indolent B-cell non-Hodgkin lymphoma' http://purl.obolibrary.org/obo/CHEBI_28874 phosphatidylinositol 'phosphatidylinositol' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/UBERON_0007329 pancreatic duct 'pancreatic duct' SubClassOf 'anatomical structure' 'pancreatic duct' SubClassOf 'part of' some 'digestive system' http://www.orpha.net/ORDO/Orphanet_522077 infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome 'infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome' SubClassOf 'genetic disorder'