294 69 5 http://www.ebi.ac.uk/efo/EFO_1000267 Gallbladder Squamous Cell Carcinoma 'Gallbladder Squamous Cell Carcinoma' SubClassOf 'genetic skin disease' http://www.ebi.ac.uk/efo/EFO_1000263 Gallbladder Adenoma 'Gallbladder Adenoma' SubClassOf 'Genetic digestive tract tumor' http://www.orpha.net/ORDO/Orphanet_94124 Spinocerebellar ataxia type 1 with axonal neuropathy 'Spinocerebellar ataxia type 1 with axonal neuropathy' SubClassOf 'spinocerebellar ataxia, autosomal recessive, with axonal neuropathy' http://www.orpha.net/ORDO/Orphanet_1380 Cataract - nephropathy - encephalopathy 'Cataract - nephropathy - encephalopathy' SubClassOf 'Syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0008560 thrombophilia due to activated protein C resistance 'thrombophilia due to activated protein C resistance' SubClassOf 'thrombophilia' 'thrombophilia due to activated protein C resistance' SubClassOf 'Rare genetic coagulation disorder' 'thrombophilia due to activated protein C resistance' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100240 http://purl.obolibrary.org/obo/MONDO_0033549 optic atrophy 12 'optic atrophy 12' SubClassOf 'hereditary optic atrophy' 'optic atrophy 12' SubClassOf 'hereditary optic atrophy' http://purl.obolibrary.org/obo/MONDO_0033542 immunodeficiency 70 'immunodeficiency 70' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0033541 immunodeficiency 69 'immunodeficiency 69' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0033555 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia 'immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0033554 immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia 'immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0033551 immunodeficiency 72 with autoinflammation 'immunodeficiency 72 with autoinflammation' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_1192 Atherosclerosis - deafness - diabetes - epilepsy - nephropathy 'Atherosclerosis - deafness - diabetes - epilepsy - nephropathy' SubClassOf 'Syndromic urogenital tract malformation' http://www.ebi.ac.uk/efo/EFO_0000274 atopic eczema 'atopic eczema' SubClassOf 'genetic skin disease' http://www.ebi.ac.uk/efo/EFO_0000279 azoospermia 'azoospermia' SubClassOf 'Genetic infertility' http://www.ebi.ac.uk/efo/EFO_0000614 narcolepsy with cataplexy 'narcolepsy with cataplexy' SubClassOf 'has modifier' some 'rare' http://www.ebi.ac.uk/efo/EFO_0000676 psoriasis 'psoriasis' SubClassOf 'genetic skin disease' http://www.ebi.ac.uk/efo/EFO_0000668 preeclampsia 'preeclampsia' SubClassOf 'has modifier' some 'rare' 'preeclampsia' SubClassOf 'Genetic hypertension' http://www.ebi.ac.uk/efo/EFO_0000685 rheumatoid arthritis 'rheumatoid arthritis' SubClassOf 'rheumatic disease' http://www.orpha.net/ORDO/Orphanet_1515 Cranioectodermal dysplasia 'Cranioectodermal dysplasia' SubClassOf 'Syndromic urogenital tract malformation' http://www.orpha.net/ORDO/Orphanet_1522 Craniometaphyseal dysplasia 'Craniometaphyseal dysplasia' SubClassOf 'osteosclerosis' http://www.orpha.net/ORDO/Orphanet_1475 Renal coloboma syndrome 'Renal coloboma syndrome' SubClassOf 'Syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0021272 inherited orthostatic hypotension 'inherited orthostatic hypotension' SubClassOf 'Rare genetic neurological disorder' http://purl.obolibrary.org/obo/MONDO_0021094 immunodeficiency disease 'immunodeficiency disease' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_98938 Colobomatous microphthalmia 'Colobomatous microphthalmia' SubClassOf 'microphthalmia, isolated, with coloboma' 'Colobomatous microphthalmia' SubClassOf 'Isolated anophthalmia - microphthalmia' 'Colobomatous microphthalmia' SubClassOf 'coloboma' 'Colobomatous microphthalmia' SubClassOf 'Isolated anophthalmia - microphthalmia' http://www.orpha.net/ORDO/Orphanet_98973 Posterior polymorphous corneal dystrophy 'Posterior polymorphous corneal dystrophy' SubClassOf 'Secondary dysgenetic glaucoma' http://purl.obolibrary.org/obo/MONDO_0021107 narcolepsy 'narcolepsy' SubClassOf 'Rare genetic neurological disorder' http://purl.obolibrary.org/obo/MONDO_0008135 optic atrophy with negative Electroretinograms 'optic atrophy with negative Electroretinograms' SubClassOf 'genetic disorder' 'optic atrophy with negative Electroretinograms' SubClassOf 'hereditary optic atrophy' http://www.orpha.net/ORDO/Orphanet_86819 Atrichia with papular lesions 'Atrichia with papular lesions' SubClassOf 'hypotrichosis 4' 'Atrichia with papular lesions' SubClassOf 'Alopecia' 'Atrichia with papular lesions' SubClassOf 'genetic alopecia' http://www.ebi.ac.uk/efo/EFO_0000773 temporal lobe epilepsy 'temporal lobe epilepsy' SubClassOf 'partial epilepsy' 'temporal lobe epilepsy' SubClassOf 'Familial partial epilepsy' http://www.orpha.net/ORDO/Orphanet_98890 Early-onset X-linked optic atrophy 'Early-onset X-linked optic atrophy' SubClassOf 'hereditary optic atrophy' 'Early-onset X-linked optic atrophy' SubClassOf 'hereditary optic atrophy' http://www.orpha.net/ORDO/Orphanet_3378 Trisomy 13 'Trisomy 13' SubClassOf 'Syndromic urogenital tract malformation' http://www.orpha.net/ORDO/Orphanet_3380 Trisomy 18 'Trisomy 18' SubClassOf 'Syndromic urogenital tract malformation' http://www.ebi.ac.uk/efo/EFO_0009160 stromme syndrome 'stromme syndrome' SubClassOf 'Syndromic urogenital tract malformation' http://www.orpha.net/ORDO/Orphanet_3404 Ulbright-Hodes syndrome 'Ulbright-Hodes syndrome' SubClassOf 'Syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0021034 genetic alopecia 'genetic alopecia' SubClassOf 'hypotrichosis' http://purl.obolibrary.org/obo/MONDO_0021064 jugulotympanic paraganglioma 'jugulotympanic paraganglioma' SubClassOf 'genetic vascular tumor' 'jugulotympanic paraganglioma' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_141132 Oculo-auriculo-vertebral spectrum 'Oculo-auriculo-vertebral spectrum' SubClassOf 'Oculoauriculovertebral spectrum with radial defects' 'Oculo-auriculo-vertebral spectrum' SubClassOf 'neurocristopathy' 'Oculo-auriculo-vertebral spectrum' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0021053 carotid body paraganglioma 'carotid body paraganglioma' SubClassOf 'genetic vascular tumor' http://www.orpha.net/ORDO/Orphanet_1064 Aniridia - renal agenesis - psychomotor retardation 'Aniridia - renal agenesis - psychomotor retardation' SubClassOf 'Genetic non-syndromic renal or urinary tract malformation' 'Aniridia - renal agenesis - psychomotor retardation' SubClassOf 'non-syndromic urogenital tract malformation' 'Aniridia - renal agenesis - psychomotor retardation' SubClassOf 'Syndromic urogenital tract malformation' http://www.orpha.net/ORDO/Orphanet_1133 AREDYLD syndrome 'AREDYLD syndrome' SubClassOf 'Syndromic urogenital tract malformation' http://www.orpha.net/ORDO/Orphanet_35664 ALDH18A1-related De Barsy syndrome 'ALDH18A1-related De Barsy syndrome' SubClassOf 'Cutis laxa' 'ALDH18A1-related De Barsy syndrome' SubClassOf 'Cutis laxa' 'ALDH18A1-related De Barsy syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100237 http://www.ebi.ac.uk/efo/EFO_0009366 quality of life during menstruation measurement 'quality of life during menstruation measurement' SubClassOf 'measurement' 'quality of life during menstruation measurement' SubClassOf http://www.ebi.ac.uk/efo/EFO_0011014 http://www.orpha.net/ORDO/Orphanet_238722 Familial congenital mirror movements 'Familial congenital mirror movements' SubClassOf 'movement disorder' 'Familial congenital mirror movements' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_79364 Alopecia 'Alopecia' SubClassOf 'hypotrichosis' http://www.orpha.net/ORDO/Orphanet_280633 Multiple congenital anomalies - hypotonia - seizures syndrome 'Multiple congenital anomalies - hypotonia - seizures syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Multiple congenital anomalies - hypotonia - seizures syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100247 http://www.orpha.net/ORDO/Orphanet_52 Alagille syndrome 'Alagille syndrome' SubClassOf 'Syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0018795 syndromic constitutional thrombocytopenia 'syndromic constitutional thrombocytopenia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100241 http://purl.obolibrary.org/obo/MONDO_0018796 isolated constitutional thrombocytopenia 'isolated constitutional thrombocytopenia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100241 http://www.orpha.net/ORDO/Orphanet_314575 Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome 'Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome' SubClassOf 'infantile hypertrophic pyloric stenosis' 'Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100239 http://www.ebi.ac.uk/efo/EFO_0004730 hormone measurement 'hormone measurement' EquivalentTo ('is_about' some 'hormone') or ('is_about' some 'hormone role') 'hormone measurement' EquivalentTo 'measurement' and (('is_about' some 'hormone') or ('is_about' some 'hormone role')) http://www.ebi.ac.uk/efo/EFO_0004799 cholelithiasis 'cholelithiasis' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0004784 self reported educational attainment 'self reported educational attainment' SubClassOf 'measurement' 'self reported educational attainment' SubClassOf http://www.ebi.ac.uk/efo/EFO_0011015 http://purl.obolibrary.org/obo/MONDO_0018619 hyperinsulinemic hypoglycaemia 'hyperinsulinemic hypoglycaemia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0016064 cleft palate 'cleft palate' SubClassOf 'hereditary connective tissue disorder' http://www.ebi.ac.uk/efo/EFO_0004696 sex hormone-binding globulin measurement 'sex hormone-binding globulin measurement' SubClassOf 'hormone measurement' 'sex hormone-binding globulin measurement' SubClassOf http://www.ebi.ac.uk/efo/EFO_0011008 http://www.ebi.ac.uk/efo/EFO_0004697 estradiol measurement 'estradiol measurement' SubClassOf 'hormone measurement' 'estradiol measurement' SubClassOf http://www.ebi.ac.uk/efo/EFO_0011007 http://www.ebi.ac.uk/efo/EFO_1000865 choledocholithiasis 'choledocholithiasis' SubClassOf 'endocrine system disease' 'choledocholithiasis' SubClassOf 'Genetic biliary tract disease' http://purl.obolibrary.org/obo/MONDO_0018559 fetal lower urinary tract obstruction 'fetal lower urinary tract obstruction' SubClassOf 'Genetic renal or urinary tract malformation' 'fetal lower urinary tract obstruction' SubClassOf 'kidney disease' http://purl.obolibrary.org/obo/MONDO_0018555 hypogonadotropic hypogonadism 'hypogonadotropic hypogonadism' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_280763 Severe intellectual disability and progressive spastic paraplegia 'Severe intellectual disability and progressive spastic paraplegia' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0013048 or http://purl.obolibrary.org/obo/MONDO_0013401 or http://purl.obolibrary.org/obo/MONDO_0013551 or http://purl.obolibrary.org/obo/MONDO_0013552 http://www.ebi.ac.uk/efo/EFO_0004908 testosterone measurement 'testosterone measurement' SubClassOf 'hormone measurement' 'testosterone measurement' SubClassOf http://www.ebi.ac.uk/efo/EFO_0011008 http://www.orpha.net/ORDO/Orphanet_363972 Noonan syndrome-like disorder with juvenile myelomonocytic leukemia 'Noonan syndrome-like disorder with juvenile myelomonocytic leukemia' SubClassOf 'rasopathy' 'Noonan syndrome-like disorder with juvenile myelomonocytic leukemia' SubClassOf 'rasopathy' http://purl.obolibrary.org/obo/MONDO_0021944 auditory neuropathy 'auditory neuropathy' SubClassOf 'inherited auditory system disease' http://www.ebi.ac.uk/efo/EFO_1000648 developmental dysplasia of the hip 'developmental dysplasia of the hip' SubClassOf 'hereditary connective tissue disorder' http://www.ebi.ac.uk/efo/EFO_0002609 juvenile idiopathic arthritis 'juvenile idiopathic arthritis' SubClassOf 'rheumatic disease' http://www.orpha.net/ORDO/Orphanet_1797 Autosomal dominant spondylocostal dysostosis 'Autosomal dominant spondylocostal dysostosis' SubClassOf 'Dysostosis of genetic origin' http://www.orpha.net/ORDO/Orphanet_69663 Low phospholipid associated cholelithiasis 'Low phospholipid associated cholelithiasis' SubClassOf 'Genetic biliary tract disease' 'Low phospholipid associated cholelithiasis' SubClassOf 'Genetic biliary tract disease' http://www.orpha.net/ORDO/Orphanet_1765 Dyschondrosteosis - nephritis 'Dyschondrosteosis - nephritis' SubClassOf 'Syndromic urogenital tract malformation' http://www.orpha.net/ORDO/Orphanet_289365 Familial vesicoureteral reflux 'Familial vesicoureteral reflux' SubClassOf 'vesicoureteral reflux' 'Familial vesicoureteral reflux' SubClassOf 'vesicoureteral reflux' http://www.orpha.net/ORDO/Orphanet_300496 Multiple congenital anomalies-hypotonia-seizures syndrome type 2 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100247 http://www.ebi.ac.uk/efo/EFO_1000757 porokeratosis 'porokeratosis' SubClassOf 'genetic skin disease' http://www.ebi.ac.uk/efo/EFO_1000790 acalculous cholecystitis 'acalculous cholecystitis' SubClassOf 'Genetic biliary tract disease' http://www.ebi.ac.uk/efo/EFO_0002508 Parkinson's disease 'Parkinson's disease' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_289290 Hypermethioninemia encephalopathy due to adenosine kinase deficiency 'Hypermethioninemia encephalopathy due to adenosine kinase deficiency' SubClassOf 'Cerebral organic aciduria' 'Hypermethioninemia encephalopathy due to adenosine kinase deficiency' SubClassOf 'Autosomal recessive non-syndromic intellectual disability' 'Hypermethioninemia encephalopathy due to adenosine kinase deficiency' SubClassOf 'Neurometabolic disease' 'Hypermethioninemia encephalopathy due to adenosine kinase deficiency' SubClassOf 'disorder of methionine catabolism' 'Hypermethioninemia encephalopathy due to adenosine kinase deficiency' SubClassOf 'Disorder of methionine cycle and sulfur amino acid metabolism' 'Hypermethioninemia encephalopathy due to adenosine kinase deficiency' SubClassOf 'Neurometabolic disease' http://www.orpha.net/ORDO/Orphanet_1945 Rolandic epilepsy 'Rolandic epilepsy' SubClassOf 'Landau-Kleffner syndrome' 'Rolandic epilepsy' SubClassOf 'childhood electroclinical syndrome' 'Rolandic epilepsy' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_363705 Craniofaciofrontodigital syndrome 'Craniofaciofrontodigital syndrome' SubClassOf 'Dysostosis of genetic origin' 'Craniofaciofrontodigital syndrome' SubClassOf 'Cutis laxa' 'Craniofaciofrontodigital syndrome' SubClassOf 'Cutis laxa' 'Craniofaciofrontodigital syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100237 http://www.orpha.net/ORDO/Orphanet_79152 Disseminated superficial actinic porokeratosis 'Disseminated superficial actinic porokeratosis' SubClassOf 'genetic skin disease' http://www.ebi.ac.uk/efo/EFO_1000453 Paraganglioma 'Paraganglioma' SubClassOf 'neuroendocrine neoplasm' 'Paraganglioma' SubClassOf 'Rare genetic neurological disorder' 'Paraganglioma' SubClassOf 'inherited neuroendocrine tumor' http://www.orpha.net/ORDO/Orphanet_1834 Axial mesodermal dysplasia spectrum 'Axial mesodermal dysplasia spectrum' SubClassOf 'Syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0033622 spermatogenic failure 44 'spermatogenic failure 44' SubClassOf 'Genetic infertility' http://purl.obolibrary.org/obo/MONDO_0008679 Wilms tumor type 1 'Wilms tumor type 1' SubClassOf 'hereditary Wilms' tumor' 'Wilms tumor type 1' SubClassOf 'kidney Wilms tumor' 'Wilms tumor type 1' SubClassOf 'hereditary Wilms' tumor' 'Wilms tumor type 1' SubClassOf 'kidney Wilms tumor' http://www.orpha.net/ORDO/Orphanet_1896 EEC syndrome 'EEC syndrome' SubClassOf 'Syndromic urogenital tract malformation' http://www.ebi.ac.uk/efo/EFO_0005296 migraine without aura 'migraine without aura' SubClassOf 'migraine disorder' 'migraine without aura' SubClassOf 'Rare genetic neurological disorder' 'migraine without aura' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100246 'migraine without aura' SubClassOf 'migraine disorder' http://www.ebi.ac.uk/efo/EFO_0007839 CAROLI/EiJ 'CAROLI/EiJ' SubClassOf 'Mus musculus' 'CAROLI/EiJ' SubClassOf 'Mus caroli' http://www.ebi.ac.uk/efo/EFO_0007882 microbiome measurement 'microbiome measurement' SubClassOf 'is_about' some 'microbiome' 'microbiome measurement' EquivalentTo 'measurement' and ('is_about' some 'microbiome') http://www.orpha.net/ORDO/Orphanet_53540 Goldmann-Favre syndrome 'Goldmann-Favre syndrome' SubClassOf 'Vitreoretinal degeneration' 'Goldmann-Favre syndrome' SubClassOf 'Unclassified primitive or secondary maculopathy' 'Goldmann-Favre syndrome' SubClassOf 'Vitreoretinal degeneration' 'Goldmann-Favre syndrome' SubClassOf 'Unclassified primitive or secondary maculopathy' http://www.ebi.ac.uk/efo/EFO_0007734 SPRET/EiJ 'SPRET/EiJ' SubClassOf 'Mus musculus' 'SPRET/EiJ' SubClassOf 'Mus spretus' http://purl.obolibrary.org/obo/HP_0000750 Delayed speech and language development 'Delayed speech and language development' SubClassOf 'Neurological speech impairment' http://purl.obolibrary.org/obo/MONDO_0016784 gestational trophoblastic disease 'gestational trophoblastic disease' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome 'Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome' SubClassOf 'Rare genetic diabetes mellitus' 'Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome' SubClassOf 'Developmental anomaly of metabolic origin' 'Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome' SubClassOf 'Syndrome with microcephaly as major feature' 'Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome' SubClassOf 'Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome' http://www.orpha.net/ORDO/Orphanet_63261 HERNS syndrome 'HERNS syndrome' SubClassOf 'Syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0004822 bronchiectasis 'bronchiectasis' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_31837 Pulmonary venoocclusive disease 'Pulmonary venoocclusive disease' SubClassOf 'Heritable pulmonary arterial hypertension' 'Pulmonary venoocclusive disease' SubClassOf 'Idiopathic and/or familial pulmonary arterial hypertension' http://www.ebi.ac.uk/efo/EFO_0005638 ATC Code G Genito-urinary system and sex hormones 'ATC Code G Genito-urinary system and sex hormones' SubClassOf 'hormone measurement' http://purl.obolibrary.org/obo/MONDO_0016446 acquired cutis laxa 'acquired cutis laxa' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100237 http://www.ebi.ac.uk/efo/EFO_0005569 microphthalmia 'microphthalmia' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0005917 generalised epilepsy 'generalised epilepsy' SubClassOf 'Rare genetic neurological disorder' http://www.ebi.ac.uk/efo/EFO_0005855 narcolepsy without cataplexy 'narcolepsy without cataplexy' SubClassOf 'has modifier' some 'rare' http://www.ebi.ac.uk/efo/EFO_0005856 arthritis 'arthritis' SubClassOf 'rheumatic disease' 'arthritis' SubClassOf 'rheumatic disease' http://www.orpha.net/ORDO/Orphanet_293633 PYCR1-related De Barsy syndrome 'PYCR1-related De Barsy syndrome' SubClassOf 'Cutis laxa' 'PYCR1-related De Barsy syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100237 'PYCR1-related De Barsy syndrome' SubClassOf 'Cutis laxa' http://www.orpha.net/ORDO/Orphanet_521438 Congenital vertebral-cardiac-renal anomalies syndrome 'Congenital vertebral-cardiac-renal anomalies syndrome' SubClassOf 'Syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0018896 thrombotic thrombocytopenic purpura 'thrombotic thrombocytopenic purpura' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100241 http://www.ebi.ac.uk/efo/EFO_0003108 essential tremor 'essential tremor' SubClassOf 'movement disorder' 'essential tremor' SubClassOf 'Rare genetic tremor disorder' 'essential tremor' SubClassOf 'Rare genetic movement disorder' http://www.orpha.net/ORDO/Orphanet_90348 Autosomal dominant cutis laxa 'Autosomal dominant cutis laxa' SubClassOf 'Cutis laxa' 'Autosomal dominant cutis laxa' SubClassOf 'Cutis laxa' 'Autosomal dominant cutis laxa' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100237 http://www.orpha.net/ORDO/Orphanet_90349 Autosomal recessive cutis laxa type 1 'Autosomal recessive cutis laxa type 1' SubClassOf 'Cutis laxa' 'Autosomal recessive cutis laxa type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100237 'Autosomal recessive cutis laxa type 1' SubClassOf 'Cutis laxa' http://www.orpha.net/ORDO/Orphanet_90350 Autosomal recessive cutis laxa type 2 'Autosomal recessive cutis laxa type 2' SubClassOf 'Cutis laxa' 'Autosomal recessive cutis laxa type 2' SubClassOf 'Cutis laxa' 'Autosomal recessive cutis laxa type 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100237 http://www.orpha.net/ORDO/Orphanet_3027 Caudal regression sequence 'Caudal regression sequence' SubClassOf 'Genetic non-syndromic renal or urinary tract malformation' http://www.orpha.net/ORDO/Orphanet_99807 PEHO-like syndrome 'PEHO-like syndrome' SubClassOf 'PEHO syndrome' 'PEHO-like syndrome' SubClassOf 'Epilepsy syndrome' 'PEHO-like syndrome' SubClassOf 'Syndromic lymphedema' 'PEHO-like syndrome' SubClassOf 'Milroy disease' 'PEHO-like syndrome' SubClassOf 'Rare genetic neurological disorder' http://purl.obolibrary.org/obo/MONDO_0000608 familial juvenile hyperuricemic nephropathy 'familial juvenile hyperuricemic nephropathy' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_3103 Roberts syndrome 'Roberts syndrome' SubClassOf 'Musculoskeletal disease with cataract' 'Roberts syndrome' SubClassOf 'autosomal recessive disease' 'Roberts syndrome' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' 'Roberts syndrome' SubClassOf 'Orofacial clefting syndrome' 'Roberts syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' 'Roberts syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100253 'Roberts syndrome' SubClassOf 'Musculoskeletal disease with cataract' 'Roberts syndrome' SubClassOf 'Orofacial clefting syndrome' 'Roberts syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' http://www.orpha.net/ORDO/Orphanet_97229 Riboflavin transporter deficiency 'Riboflavin transporter deficiency' SubClassOf 'motor neuron disease' http://purl.obolibrary.org/obo/MONDO_0024498 glioma susceptibility 1 'glioma susceptibility 1' SubClassOf 'inherited disease susceptibility' 'glioma susceptibility 1' SubClassOf 'predisposes towards' some 'malignant glioma' 'glioma susceptibility 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100242 http://purl.obolibrary.org/obo/MONDO_0024502 gallbladder neuroendocrine neoplasm 'gallbladder neuroendocrine neoplasm' SubClassOf 'neuroendocrine neoplasm' 'gallbladder neuroendocrine neoplasm' SubClassOf 'inherited neuroendocrine tumor' http://www.ebi.ac.uk/efo/EFO_0007249 emphysematous cholecystitis 'emphysematous cholecystitis' SubClassOf 'Genetic biliary tract disease' http://www.orpha.net/ORDO/Orphanet_3253 Zlotogora-Ogur syndrome 'Zlotogora-Ogur syndrome' SubClassOf 'Cleft lip/palate - ectodermal dysplasia' 'Zlotogora-Ogur syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Zlotogora-Ogur syndrome' SubClassOf 'Cleft lip/palate - ectodermal dysplasia' http://www.orpha.net/ORDO/Orphanet_3337 Primary Fanconi syndrome 'Primary Fanconi syndrome' SubClassOf 'Fanconi renotubular syndrome' 'Primary Fanconi syndrome' SubClassOf 'Genetic renal tubular disease' 'Primary Fanconi syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100238 http://www.orpha.net/ORDO/Orphanet_3342 Arterial tortuosity syndrome 'Arterial tortuosity syndrome' SubClassOf 'Cutis laxa' 'Arterial tortuosity syndrome' SubClassOf 'connective tissue disease' 'Arterial tortuosity syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100237 'Arterial tortuosity syndrome' SubClassOf 'Cutis laxa' http://www.orpha.net/ORDO/Orphanet_3315 Thiopurine S-methyltransferase deficiency 'Thiopurine S-methyltransferase deficiency' SubClassOf 'Inborn errors of metabolism' http://www.ebi.ac.uk/efo/EFO_0007169 biliary dyskinesia 'biliary dyskinesia' SubClassOf 'Genetic biliary tract disease' http://www.orpha.net/ORDO/Orphanet_3186 Holoprosencephaly - radial heart renal anomalies 'Holoprosencephaly - radial heart renal anomalies' SubClassOf 'Syndromic urogenital tract malformation' http://www.orpha.net/ORDO/Orphanet_3134 SCARF syndrome 'SCARF syndrome' SubClassOf 'Cutis laxa' 'SCARF syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100237 'SCARF syndrome' SubClassOf 'Cutis laxa' http://purl.obolibrary.org/obo/MONDO_0000334 multinodular goiter 'multinodular goiter' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012320 migraine, familial hemiplegic, 3 'migraine, familial hemiplegic, 3' SubClassOf 'familial hemiplegic migraine' 'migraine, familial hemiplegic, 3' SubClassOf 'Familial or sporadic hemiplegic migraine' 'migraine, familial hemiplegic, 3' SubClassOf 'familial hemiplegic migraine' 'migraine, familial hemiplegic, 3' SubClassOf 'Familial or sporadic hemiplegic migraine' http://purl.obolibrary.org/obo/MONDO_0000358 orofacial cleft 'orofacial cleft' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0000359 spondylocostal dysostosis 'spondylocostal dysostosis' SubClassOf 'dysostosis' 'spondylocostal dysostosis' SubClassOf 'Dysostosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0000389 atelosteogenesis 'atelosteogenesis' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_320317 Cleft lip/palate - ectodermal dysplasia 'Cleft lip/palate - ectodermal dysplasia' SubClassOf 'Ectodermal dysplasia syndrome' 'Cleft lip/palate - ectodermal dysplasia' SubClassOf 'Ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0000166 encephalopathy, acute, infection-induced 'encephalopathy, acute, infection-induced' SubClassOf 'Rare genetic neurological disorder' http://purl.obolibrary.org/obo/MONDO_0000170 microphthalmia, isolated, with coloboma 'microphthalmia, isolated, with coloboma' SubClassOf 'Isolated anophthalmia - microphthalmia' 'microphthalmia, isolated, with coloboma' SubClassOf 'coloboma' http://www.ebi.ac.uk/efo/EFO_0007460 reactive arthritis 'reactive arthritis' SubClassOf 'rheumatic disease' http://www.ebi.ac.uk/efo/EFO_0007490 spinal stenosis 'spinal stenosis' SubClassOf 'bone deterioration disease' 'spinal stenosis' SubClassOf 'disease of bone structure' http://purl.obolibrary.org/obo/MONDO_0000210 thiopurine metabolic disease 'thiopurine metabolic disease' SubClassOf 'metabolic disease' 'thiopurine metabolic disease' SubClassOf 'nutritional or metabolic disease' 'thiopurine metabolic disease' SubClassOf 'Inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0000214 hypermanganesemia with dystonia 'hypermanganesemia with dystonia' SubClassOf 'metabolic disease' 'hypermanganesemia with dystonia' SubClassOf 'nutritional or metabolic disease' 'hypermanganesemia with dystonia' SubClassOf 'Inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0000212 hypercalcemia, infantile 'hypercalcemia, infantile' SubClassOf 'Inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0014889 striatonigral degeneration, childhood-onset 'striatonigral degeneration, childhood-onset' SubClassOf 'Genetic neurodegenerative disease' http://purl.obolibrary.org/obo/MONDO_0014689 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome 'Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome' SubClassOf 'Dysostosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0000050 isolated congenital growth hormone deficiency 'isolated congenital growth hormone deficiency' SubClassOf 'Non-acquired pituitary hormone deficiency' 'isolated congenital growth hormone deficiency' SubClassOf 'hypopituitarism' http://www.orpha.net/ORDO/Orphanet_75377 Central areolar choroidal dystrophy 'Central areolar choroidal dystrophy' SubClassOf 'neurovascular disease' 'Central areolar choroidal dystrophy' SubClassOf 'Genetic macular dystrophy' http://purl.obolibrary.org/obo/MONDO_0000104 anemia, hypochromic microcytic with iron overload 'anemia, hypochromic microcytic with iron overload' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0026722 Mullegama-Klein-Martinez syndrome 'Mullegama-Klein-Martinez syndrome' SubClassOf 'disease' 'Mullegama-Klein-Martinez syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0000118 reticulate pigment disorder 'reticulate pigment disorder' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0000137 leukoencephalopathy, megalencephalic 'leukoencephalopathy, megalencephalic' SubClassOf 'Rare genetic neurological disorder' 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 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0000159 bone marrow failure syndrome 'bone marrow failure syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0026767 immunodeficiency 74, covid19-related, x-linked 'immunodeficiency 74, covid19-related, x-linked' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0005045 visceral Leishmaniasis 'visceral Leishmaniasis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0000005 alopecia, isolated 'alopecia, isolated' SubClassOf 'Alopecia' 'alopecia, isolated' SubClassOf 'Alopecia' http://purl.obolibrary.org/obo/MONDO_0000030 epilepsy, nocturnal frontal lobe 'epilepsy, nocturnal frontal lobe' SubClassOf 'Familial partial epilepsy' http://purl.obolibrary.org/obo/MONDO_0014536 thrombocytopenia 5 'thrombocytopenia 5' SubClassOf 'blood platelet disease' 'thrombocytopenia 5' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100241 http://www.ebi.ac.uk/efo/EFO_0007549 Zollinger-Ellison Syndrome 'Zollinger-Ellison Syndrome' SubClassOf 'islet cell tumor' 'Zollinger-Ellison Syndrome' SubClassOf 'pancreatic neoplasm' http://www.orpha.net/ORDO/Orphanet_2673 Neurofaciodigitorenal syndrome 'Neurofaciodigitorenal syndrome' SubClassOf 'Syndromic urogenital tract malformation' http://www.orpha.net/ORDO/Orphanet_2697 Arthrogryposis - renal dysfunction - cholestasis 'Arthrogryposis - renal dysfunction - cholestasis' SubClassOf 'Syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/NCBITaxon_10096 Mus spretus 'Mus spretus' SubClassOf 'Mus musculus subspecies' 'Mus spretus' SubClassOf 'Mus' http://purl.obolibrary.org/obo/MONDO_0019165 central precocious puberty 'central precocious puberty' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_2820 Spastic paraplegia - nephritis - deafness 'Spastic paraplegia - nephritis - deafness' SubClassOf 'Syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0019013 non-histaminic angioedema 'non-histaminic angioedema' SubClassOf 'has modifier' some 'rare' 'non-histaminic angioedema' SubClassOf 'systemic or rheumatic disease' 'non-histaminic angioedema' SubClassOf 'angioedema' 'non-histaminic angioedema' SubClassOf 'allergic urticaria' http://purl.obolibrary.org/obo/MONDO_0007052 growth hormone secreting pituitary adenoma 1 'growth hormone secreting pituitary adenoma 1' SubClassOf 'Growth Hormone-Producing Pituitary Gland Adenoma' http://www.ebi.ac.uk/efo/EFO_1001486 primary biliary cirrhosis 'primary biliary cirrhosis' SubClassOf 'cirrhosis of liver' 'primary biliary cirrhosis' SubClassOf 'has modifier' some 'rare' 'primary biliary cirrhosis' SubClassOf 'biliary tract disease' 'primary biliary cirrhosis' SubClassOf 'Genetic biliary tract disease' 'primary biliary cirrhosis' SubClassOf 'cirrhosis, familial' http://www.ebi.ac.uk/efo/EFO_1001485 acromegaly 'acromegaly' SubClassOf 'familial isolated pituitary adenoma' 'acromegaly' SubClassOf 'female reproductive system neoplasm' 'acromegaly' SubClassOf 'growth hormone secreting pituitary adenoma 1' 'acromegaly' SubClassOf 'Rare genetic neurological disorder' http://www.ebi.ac.uk/efo/EFO_1001496 Autosomal dominant polycystic kidney disease 'Autosomal dominant polycystic kidney disease' SubClassOf 'Familial cystic renal disease' http://purl.obolibrary.org/obo/MONDO_0010589 Aarskog-Scott syndrome, X-linked 'Aarskog-Scott syndrome, X-linked' SubClassOf 'fg syndrome' http://www.orpha.net/ORDO/Orphanet_2750 Orofaciodigital syndrome type 1 'Orofaciodigital syndrome type 1' SubClassOf 'Familial cystic renal disease' 'Orofaciodigital syndrome type 1' SubClassOf 'Syndromic urogenital tract malformation' http://www.orpha.net/ORDO/Orphanet_2773 Osteogenesis imperfecta - retinopathy - seizures - intellectual disability 'Osteogenesis imperfecta - retinopathy - seizures - intellectual disability' SubClassOf 'optic atrophy' 'Osteogenesis imperfecta - retinopathy - seizures - intellectual disability' SubClassOf 'eye degenerative disease' http://www.ebi.ac.uk/efo/EFO_1001106 pigmented villonodular synovitis 'pigmented villonodular synovitis' SubClassOf 'rheumatic disease' http://www.orpha.net/ORDO/Orphanet_2186 Hydrocephalus - blue sclerae - nephropathy 'Hydrocephalus - blue sclerae - nephropathy' SubClassOf 'Genetic non-syndromic renal or urinary tract malformation' 'Hydrocephalus - blue sclerae - nephropathy' SubClassOf 'non-syndromic urogenital tract malformation' http://www.orpha.net/ORDO/Orphanet_2185 Congenital hydrocephalus 'Congenital hydrocephalus' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_2237 Hypoparathyroidism - deafness - renal disease 'Hypoparathyroidism - deafness - renal disease' SubClassOf 'Syndromic urogenital tract malformation' http://www.orpha.net/ORDO/Orphanet_2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome 'Megacystis-microcolon-intestinal hypoperistalsis syndrome' SubClassOf 'Syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0010432 thrombophilia, X-linked, due to factor 9 defect 'thrombophilia, X-linked, due to factor 9 defect' SubClassOf 'thrombophilia' 'thrombophilia, X-linked, due to factor 9 defect' SubClassOf 'Rare genetic coagulation disorder' 'thrombophilia, X-linked, due to factor 9 defect' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100240 http://www.orpha.net/ORDO/Orphanet_227976 Autosomal recessive optic atrophy, OPA7 type 'Autosomal recessive optic atrophy, OPA7 type' SubClassOf 'hereditary optic atrophy' http://www.orpha.net/ORDO/Orphanet_2078 Geroderma osteodysplastica 'Geroderma osteodysplastica' SubClassOf 'Cutis laxa' 'Geroderma osteodysplastica' SubClassOf 'Cutis laxa' 'Geroderma osteodysplastica' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100237 http://www.orpha.net/ORDO/Orphanet_97548 Ivemark syndrome 'Ivemark syndrome' SubClassOf 'Syndromic urogenital tract malformation' http://www.orpha.net/ORDO/Orphanet_2052 Fraser syndrome 'Fraser syndrome' SubClassOf 'Syndromic urogenital tract malformation' http://www.orpha.net/ORDO/Orphanet_2134 Atypical hemolytic-uremic syndrome 'Atypical hemolytic-uremic syndrome' SubClassOf 'familial hemolytic anemia' http://purl.obolibrary.org/obo/MONDO_0010308 thrombocytopenia, X-linked, with or without dyserythropoietic anemia 'thrombocytopenia, X-linked, with or without dyserythropoietic anemia' SubClassOf 'genetic disorder' 'thrombocytopenia, X-linked, with or without dyserythropoietic anemia' SubClassOf 'blood platelet disease' 'thrombocytopenia, X-linked, with or without dyserythropoietic anemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100241 http://purl.obolibrary.org/obo/MONDO_0010372 Clark-Baraitser syndrome 'Clark-Baraitser syndrome' SubClassOf 'genetic disorder' 'Clark-Baraitser syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_198 Occipital horn syndrome 'Occipital horn syndrome' SubClassOf 'Cutis laxa' 'Occipital horn syndrome' SubClassOf 'Cutis laxa' 'Occipital horn syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100237 http://www.orpha.net/ORDO/Orphanet_195 Cat-eye syndrome 'Cat-eye syndrome' SubClassOf 'Syndromic urogenital tract malformation' http://www.orpha.net/ORDO/Orphanet_370006 Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies 'Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies' SubClassOf 'Syndromic urogenital tract malformation' http://www.orpha.net/ORDO/Orphanet_357043 Amyotrophic lateral sclerosis type 4 'Amyotrophic lateral sclerosis type 4' SubClassOf 'familial amyotrophic lateral sclerosis' 'Amyotrophic lateral sclerosis type 4' SubClassOf 'familial amyotrophic lateral sclerosis' http://www.orpha.net/ORDO/Orphanet_107 BOR syndrome 'BOR syndrome' SubClassOf 'Syndromic urogenital tract malformation' http://www.orpha.net/ORDO/Orphanet_105 Atresia of urethra 'Atresia of urethra' SubClassOf 'non-syndromic urogenital tract malformation' http://www.orpha.net/ORDO/Orphanet_116 Beckwith-Wiedemann syndrome 'Beckwith-Wiedemann syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'Beckwith-Wiedemann syndrome' SubClassOf 'urogenital neoplasm' http://www.orpha.net/ORDO/Orphanet_110 Bardet-Biedl syndrome 'Bardet-Biedl syndrome' SubClassOf 'Syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0000816 abdominal obesity-metabolic syndrome 'abdominal obesity-metabolic syndrome' SubClassOf 'Inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0000824 congenital diarrhea 'congenital diarrhea' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0000834 bone deterioration disease 'bone deterioration disease' SubClassOf 'disease of bone structure' http://purl.obolibrary.org/obo/MONDO_0000845 fibrous dysplasia 'fibrous dysplasia' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'fibrous dysplasia' SubClassOf 'has modifier' some 'acquired' http://www.orpha.net/ORDO/Orphanet_2492 Limb transversal defect - cardiac anomaly 'Limb transversal defect - cardiac anomaly' SubClassOf 'Genetic syndrome with limb reduction defects' 'Limb transversal defect - cardiac anomaly' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' 'Limb transversal defect - cardiac anomaly' SubClassOf 'Genetic syndrome with limb reduction defects' http://www.orpha.net/ORDO/Orphanet_2278 Ichthyosis - intellectual disability - dwarfism - renal impairment 'Ichthyosis - intellectual disability - dwarfism - renal impairment' SubClassOf 'Syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0000733 cornea plana 'cornea plana' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_2311 Autosomal recessive spondylocostal dysostosis 'Autosomal recessive spondylocostal dysostosis' SubClassOf 'Dysostosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0010122 congenital thrombotic thrombocytopenic purpura 'congenital thrombotic thrombocytopenic purpura' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100241 http://www.orpha.net/ORDO/Orphanet_374 Goldenhar syndrome 'Goldenhar syndrome' SubClassOf 'Oculoauriculovertebral spectrum with radial defects' 'Goldenhar syndrome' SubClassOf 'syndromic disease' 'Goldenhar syndrome' SubClassOf 'neurocristopathy' http://www.orpha.net/ORDO/Orphanet_373 Simpson-Golabi-Behmel syndrome 'Simpson-Golabi-Behmel syndrome' SubClassOf 'Syndromic urogenital tract malformation' http://www.orpha.net/ORDO/Orphanet_393 46,XX testicular disorder of sex development '46,XX testicular disorder of sex development' SubClassOf 'Male infertility due to gonadal dysgenesis' '46,XX testicular disorder of sex development' SubClassOf '46,XX gonadal dysgenesis' '46,XX testicular disorder of sex development' SubClassOf 'Male infertility due to gonadal dysgenesis' '46,XX testicular disorder of sex development' SubClassOf '46,XX disorder of gonadal development' http://purl.obolibrary.org/obo/HP_0001344 Absent speech 'Absent speech' SubClassOf 'Neurological speech impairment' http://www.orpha.net/ORDO/Orphanet_447 Paroxysmal nocturnal hemoglobinuria 'Paroxysmal nocturnal hemoglobinuria' SubClassOf 'telomere syndrome' 'Paroxysmal nocturnal hemoglobinuria' SubClassOf 'acquired metabolic disease' 'Paroxysmal nocturnal hemoglobinuria' SubClassOf 'hemoglobinuria' 'Paroxysmal nocturnal hemoglobinuria' SubClassOf 'normocytic anemia' 'Paroxysmal nocturnal hemoglobinuria' SubClassOf 'has modifier' some 'acquired' 'Paroxysmal nocturnal hemoglobinuria' SubClassOf 'disorder of GPI anchor biosynthesis' http://www.orpha.net/ORDO/Orphanet_217335 MACS syndrome 'MACS syndrome' SubClassOf 'Cutis laxa' 'MACS syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100237 'MACS syndrome' SubClassOf 'Cutis laxa' http://purl.obolibrary.org/obo/MONDO_0032903 arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum 'arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0032904 corneal dystrophy, Meesmann, 2 'corneal dystrophy, Meesmann, 2' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_93547 Syndromic renal or urinary tract malformation 'Syndromic renal or urinary tract malformation' SubClassOf 'syndromic disease' 'Syndromic renal or urinary tract malformation' EquivalentTo 'Genetic renal or urinary tract malformation' and ('has modifier' some 'has a syndromic presentation') 'Syndromic renal or urinary tract malformation' SubClassOf 'Genetic renal or urinary tract malformation' 'Syndromic renal or urinary tract malformation' SubClassOf 'kidney disease' 'Syndromic renal or urinary tract malformation' SubClassOf 'Genetic urogenital tract malformation' 'Syndromic renal or urinary tract malformation' SubClassOf 'Genetic renal or urinary tract malformation' http://purl.obolibrary.org/obo/MONDO_0032941 myopia 27 'myopia 27' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_249 Fibrous dysplasia of bone 'Fibrous dysplasia of bone' SubClassOf 'has modifier' some 'acquired' 'Fibrous dysplasia of bone' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Fibrous dysplasia of bone' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' http://www.orpha.net/ORDO/Orphanet_250 Frontonasal dysplasia 'Frontonasal dysplasia' SubClassOf 'Dysostosis of genetic origin' http://www.orpha.net/ORDO/Orphanet_217266 BNAR syndrome 'BNAR syndrome' SubClassOf 'Syndromic urogenital tract malformation' http://www.orpha.net/ORDO/Orphanet_325 Congenital factor II deficiency 'Congenital factor II deficiency' SubClassOf 'Rare genetic coagulation disorder' http://www.orpha.net/ORDO/Orphanet_322 Exstrophy-epispadias complex 'Exstrophy-epispadias complex' SubClassOf 'Genetic renal or urinary tract malformation' 'Exstrophy-epispadias complex' SubClassOf 'non-syndromic diaphragmatic or abdominal wall malformation' 'Exstrophy-epispadias complex' SubClassOf 'non-syndromic urogenital tract malformation' 'Exstrophy-epispadias complex' SubClassOf 'kidney disease' http://www.orpha.net/ORDO/Orphanet_93602 Xanthinuria type II 'Xanthinuria type II' SubClassOf 'Hereditary xanthinuria' 'Xanthinuria type II' SubClassOf 'Hereditary xanthinuria' http://www.orpha.net/ORDO/Orphanet_93601 Xanthinuria type I 'Xanthinuria type I' SubClassOf 'Hereditary xanthinuria' 'Xanthinuria type I' SubClassOf 'Hereditary xanthinuria' http://purl.obolibrary.org/obo/MONDO_0007806 hypotrichosis 4 'hypotrichosis 4' SubClassOf 'Marie Unna hereditary hypotrichosis' http://purl.obolibrary.org/obo/MONDO_0007817 IgE responsiveness, atopic 'IgE responsiveness, atopic' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0020831 congenital vertebral-cardiac-renal anomalies syndrome 'congenital vertebral-cardiac-renal anomalies syndrome' SubClassOf 'Syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0032898 spermatogenic failure 43 'spermatogenic failure 43' SubClassOf 'Genetic infertility' http://purl.obolibrary.org/obo/MONDO_0032896 spermatogenic failure 42 'spermatogenic failure 42' SubClassOf 'Genetic infertility' http://www.orpha.net/ORDO/Orphanet_648 Noonan syndrome 'Noonan syndrome' SubClassOf 'Syndromic urogenital tract malformation' http://www.orpha.net/ORDO/Orphanet_672 Pallister-Hall syndrome 'Pallister-Hall syndrome' SubClassOf 'Syndromic urogenital tract malformation' http://www.ebi.ac.uk/efo/EFO_0001060 celiac disease 'celiac disease' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0001059 cataract 'cataract' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_93929 Cloacal exstrophy 'Cloacal exstrophy' SubClassOf 'Syndromic renal or urinary tract malformation' 'Cloacal exstrophy' SubClassOf 'Isolated anorectal malformation' http://purl.obolibrary.org/obo/MONDO_0020732 progeria 'progeria' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_398088 Hereditary cryohydrocytosis with normal stomatin 'Hereditary cryohydrocytosis with normal stomatin' SubClassOf 'Familial pseudohyperkalemia' 'Hereditary cryohydrocytosis with normal stomatin' SubClassOf 'Hereditary stomatocytosis' http://www.orpha.net/ORDO/Orphanet_474 Jeune syndrome 'Jeune syndrome' SubClassOf 'Syndromic urogenital tract malformation' 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 'thrombophilia' http://www.orpha.net/ORDO/Orphanet_567 22q11.2 deletion syndrome '22q11.2 deletion syndrome' SubClassOf 'Syndromic urogenital tract malformation' http://www.orpha.net/ORDO/Orphanet_564 Meckel syndrome 'Meckel syndrome' SubClassOf 'Syndromic urogenital tract malformation' http://www.orpha.net/ORDO/Orphanet_217454 Rare hereditary thrombophilia 'Rare hereditary thrombophilia' SubClassOf 'thrombophilia' 'Rare hereditary thrombophilia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100240 http://purl.obolibrary.org/obo/MONDO_0019624 acquired angioedema 'acquired angioedema' SubClassOf 'non-histaminic angioedema' 'acquired angioedema' SubClassOf 'angioedema' http://purl.obolibrary.org/obo/MONDO_0020642 polycystic kidney disease 'polycystic kidney disease' SubClassOf 'Cystic Kidney Disease' 'polycystic kidney disease' SubClassOf 'Familial cystic renal disease' http://www.orpha.net/ORDO/Orphanet_93277 Monostotic fibrous dysplasia 'Monostotic fibrous dysplasia' SubClassOf 'Fibrous dysplasia of bone' 'Monostotic fibrous dysplasia' SubClassOf 'Fibrous dysplasia of bone' 'Monostotic fibrous dysplasia' SubClassOf 'fibrous dysplasia' http://www.orpha.net/ORDO/Orphanet_93276 Polyostotic fibrous dysplasia 'Polyostotic fibrous dysplasia' SubClassOf 'Fibrous dysplasia of bone' 'Polyostotic fibrous dysplasia' SubClassOf 'fibrous dysplasia' 'Polyostotic fibrous dysplasia' SubClassOf 'Fibrous dysplasia of bone' http://www.orpha.net/ORDO/Orphanet_857 Townes-Brocks syndrome 'Townes-Brocks syndrome' SubClassOf 'Syndromic urogenital tract malformation' http://www.orpha.net/ORDO/Orphanet_887 VACTERL/VATER association 'VACTERL/VATER association' SubClassOf 'Syndromic urogenital tract malformation' http://www.orpha.net/ORDO/Orphanet_893 WAGR syndrome 'WAGR syndrome' SubClassOf 'Genetic non-syndromic renal or urinary tract malformation' 'WAGR syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'WAGR syndrome' SubClassOf 'non-syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0030045 Liberfarb syndrome 'Liberfarb syndrome' SubClassOf 'genetic disorder' 'Liberfarb syndrome' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_818 Smith-Lemli-Opitz syndrome 'Smith-Lemli-Opitz syndrome' SubClassOf 'Syndromic urogenital tract malformation' http://www.orpha.net/ORDO/Orphanet_93111 Renal cysts and diabetes syndrome 'Renal cysts and diabetes syndrome' SubClassOf 'Syndromic urogenital tract malformation' http://www.orpha.net/ORDO/Orphanet_93110 Posterior urethral valve 'Posterior urethral valve' SubClassOf 'non-syndromic urogenital tract malformation' http://www.ebi.ac.uk/efo/EFO_0003832 gallbladder disease 'gallbladder disease' SubClassOf 'genetic 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 'thrombophilia' http://www.ebi.ac.uk/efo/EFO_0003767 inflammatory bowel disease 'inflammatory bowel disease' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_735 Porokeratosis of Mibelli 'Porokeratosis of Mibelli' SubClassOf 'genetic skin disease' http://www.ebi.ac.uk/efo/EFO_0003757 Asperger syndrome 'Asperger syndrome' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_777 X-linked non-syndromic intellectual disability 'X-linked non-syndromic intellectual disability' SubClassOf 'X-linked disease' 'X-linked non-syndromic intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100284 http://www.orpha.net/ORDO/Orphanet_783 Rubinstein-Taybi syndrome 'Rubinstein-Taybi syndrome' SubClassOf 'Syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0032591 hyperparathyroidism, transient neonatal 'hyperparathyroidism, transient neonatal' SubClassOf 'Genetic hyperparathyroidism' 'hyperparathyroidism, transient neonatal' SubClassOf 'Genetic hyperparathyroidism' http://www.orpha.net/ORDO/Orphanet_798 Schinzel-Giedion syndrome 'Schinzel-Giedion syndrome' SubClassOf 'Syndromic urogenital tract malformation' http://www.orpha.net/ORDO/Orphanet_701 Alopecia universalis 'Alopecia universalis' SubClassOf 'hypotrichosis 4' 'Alopecia universalis' SubClassOf 'genetic alopecia' http://www.orpha.net/ORDO/Orphanet_2970 Prune belly syndrome 'Prune belly syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Prune belly syndrome' SubClassOf 'non-syndromic urogenital tract malformation' http://www.orpha.net/ORDO/Orphanet_731 Autosomal recessive polycystic kidney disease 'Autosomal recessive polycystic kidney disease' SubClassOf 'Familial cystic renal disease' http://www.orpha.net/ORDO/Orphanet_276399 Familial multinodular goiter 'Familial multinodular goiter' EquivalentTo 'multinodular goiter' and ('has modifier' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0007319 familial calcium pyrophosphate deposition 'familial calcium pyrophosphate deposition' SubClassOf 'rheumatic disease' http://purl.obolibrary.org/obo/MONDO_0007336 isolated cleft palate 'isolated cleft palate' SubClassOf 'hereditary connective tissue disorder' http://www.ebi.ac.uk/efo/EFO_0001365 age-related macular degeneration 'age-related macular degeneration' SubClassOf 'Retinal dystrophy' http://www.orpha.net/ORDO/Orphanet_950 Acrodysostosis 'Acrodysostosis' SubClassOf 'dysostosis' http://www.orpha.net/ORDO/Orphanet_956 Acro-pectoro-renal dysplasia 'Acro-pectoro-renal dysplasia' SubClassOf 'Syndromic urogenital tract malformation' http://www.orpha.net/ORDO/Orphanet_955 Acroosteolysis dominant type 'Acroosteolysis dominant type' SubClassOf 'Syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0001029 Klippel-Feil syndrome 'Klippel-Feil syndrome' SubClassOf 'Dysostosis of genetic origin' 'Klippel-Feil syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013017 hypotrichosis 5 'hypotrichosis 5' SubClassOf 'hypotrichosis' http://purl.obolibrary.org/obo/MONDO_0013092 glioma susceptibility 2 'glioma susceptibility 2' SubClassOf 'predisposes towards' some 'malignant glioma' 'glioma susceptibility 2' SubClassOf 'inherited disease susceptibility' 'glioma susceptibility 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100242 http://purl.obolibrary.org/obo/MONDO_0013093 glioma susceptibility 3 'glioma susceptibility 3' SubClassOf 'predisposes towards' some 'malignant glioma' 'glioma susceptibility 3' SubClassOf 'inherited disease susceptibility' 'glioma susceptibility 3' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100242 http://purl.obolibrary.org/obo/MONDO_0003656 hemoglobinuria 'hemoglobinuria' SubClassOf 'kidney disease' http://purl.obolibrary.org/obo/MONDO_0015643 photosensitive epilepsy 'photosensitive epilepsy' SubClassOf 'reflex epilepsy' 'photosensitive epilepsy' SubClassOf 'inherited reflex epilepsy' http://www.ebi.ac.uk/efo/EFO_0004194 IGA glomerulonephritis 'IGA glomerulonephritis' SubClassOf 'hereditary nephritis' http://www.orpha.net/ORDO/Orphanet_137888 Auriculocondylar syndrome 'Auriculocondylar syndrome' SubClassOf 'Genetic branchial arch or oral-acral syndrome' http://www.ebi.ac.uk/efo/EFO_0004143 carpal tunnel syndrome 'carpal tunnel syndrome' SubClassOf 'Genetic peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0003122 striatonigral degeneration 'striatonigral degeneration' SubClassOf 'Genetic neurodegenerative disease' 'striatonigral degeneration' SubClassOf 'Rare genetic tremor disorder' 'striatonigral degeneration' SubClassOf 'Rare genetic movement disorder' http://purl.obolibrary.org/obo/MONDO_0054750 amyotrophic lateral sclerosis, susceptibility to, 24 'amyotrophic lateral sclerosis, susceptibility to, 24' SubClassOf 'amyotrophic lateral sclerosis' 'amyotrophic lateral sclerosis, susceptibility to, 24' SubClassOf 'familial amyotrophic lateral sclerosis' http://www.ebi.ac.uk/efo/EFO_0004213 otosclerosis 'otosclerosis' SubClassOf 'inherited auditory system disease' 'otosclerosis' SubClassOf 'genetic otorhinolaryngologic disease' http://www.ebi.ac.uk/efo/EFO_0004236 focal segmental glomerulosclerosis 'focal segmental glomerulosclerosis' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0004270 restless legs syndrome 'restless legs syndrome' SubClassOf 'nervous system disease' 'restless legs syndrome' SubClassOf 'Rare genetic neurological disorder' http://www.ebi.ac.uk/efo/EFO_0004261 osteitis deformans 'osteitis deformans' SubClassOf 'hereditary connective tissue disorder' http://purl.obolibrary.org/obo/MONDO_0003037 hypotrichosis 'hypotrichosis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0015073 gallbladder neuroendocrine tumor, grade 1/2 'gallbladder neuroendocrine tumor, grade 1/2' SubClassOf 'Genetic biliary tract disease' http://www.orpha.net/ORDO/Orphanet_98464 X-linked syndromic intellectual disability 'X-linked syndromic intellectual disability' SubClassOf 'X-linked disease' 'X-linked syndromic intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100284 http://www.orpha.net/ORDO/Orphanet_98434 Hereditary combined deficiency of vitamin K-dependent clotting factors 'Hereditary combined deficiency of vitamin K-dependent clotting factors' SubClassOf 'Rare genetic coagulation disorder' http://www.orpha.net/ORDO/Orphanet_369837 Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome 'Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100247 http://www.orpha.net/ORDO/Orphanet_98756 Spinocerebellar ataxia type 2 'Spinocerebellar ataxia type 2' SubClassOf 'familial amyotrophic lateral sclerosis' 'Spinocerebellar ataxia type 2' SubClassOf 'familial amyotrophic lateral sclerosis' http://www.orpha.net/ORDO/Orphanet_357506 Genetic non-syndromic renal or urinary tract malformation 'Genetic non-syndromic renal or urinary tract malformation' EquivalentTo 'Genetic renal or urinary tract malformation' and ('has modifier' some 'has an isolated presentation') 'Genetic non-syndromic renal or urinary tract malformation' SubClassOf 'has modifier' some 'has an isolated presentation' 'Genetic non-syndromic renal or urinary tract malformation' SubClassOf 'Genetic renal or urinary tract malformation' 'Genetic non-syndromic renal or urinary tract malformation' SubClassOf 'Genetic urogenital tract malformation' 'Genetic non-syndromic renal or urinary tract malformation' SubClassOf 'Genetic renal or urinary tract malformation' 'Genetic non-syndromic renal or urinary tract malformation' SubClassOf 'kidney disease' http://purl.obolibrary.org/obo/MONDO_0013775 thrombomodulin-related bleeding disorder 'thrombomodulin-related bleeding disorder' SubClassOf 'thrombophilia' 'thrombomodulin-related bleeding disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100240 http://www.orpha.net/ORDO/Orphanet_98645 Cerebral disease with cataract 'Cerebral disease with cataract' SubClassOf 'nervous system disease' http://www.orpha.net/ORDO/Orphanet_98672 Autosomal dominant optic atrophy 'Autosomal dominant optic atrophy' SubClassOf 'Optic neuropathy' 'Autosomal dominant optic atrophy' SubClassOf 'Optic neuropathy' http://www.orpha.net/ORDO/Orphanet_98676 Autosomal recessive isolated optic atrophy 'Autosomal recessive isolated optic atrophy' SubClassOf 'hereditary optic atrophy' 'Autosomal recessive isolated optic atrophy' SubClassOf 'hereditary optic atrophy' http://purl.obolibrary.org/obo/MONDO_0013626 psoriasis 14, pustular 'psoriasis 14, pustular' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0001549 hemolytic-uremic syndrome 'hemolytic-uremic syndrome' SubClassOf 'normocytic anemia' 'hemolytic-uremic syndrome' SubClassOf 'familial hemolytic anemia' http://purl.obolibrary.org/obo/MONDO_0001384 myopia (disease) 'myopia (disease)' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_101046 Autosomal dominant epilepsy with auditory features 'Autosomal dominant epilepsy with auditory features' SubClassOf 'Familial partial epilepsy' http://www.orpha.net/ORDO/Orphanet_88619 Familial acute necrotizing encephalopathy 'Familial acute necrotizing encephalopathy' SubClassOf 'Rare genetic neurological disorder' http://www.ebi.ac.uk/efo/EFO_0006342 aggressive periodontitis 'aggressive periodontitis' SubClassOf 'chronic periodontitis' 'aggressive periodontitis' SubClassOf 'chronic periodontitis' http://www.orpha.net/ORDO/Orphanet_140969 Saldino-Mainzer syndrome 'Saldino-Mainzer syndrome' SubClassOf 'Syndromic urogenital tract malformation' http://www.orpha.net/ORDO/Orphanet_221145 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies 'Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies' SubClassOf 'Cutis laxa' 'Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies' SubClassOf 'Cutis laxa' 'Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100237 http://purl.obolibrary.org/obo/MONDO_0015855 isolated congenital breast hypoplasia/aplasia 'isolated congenital breast hypoplasia/aplasia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0001222 congenital T-cell immunodeficiency 'congenital T-cell immunodeficiency' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/NCBITaxon_186842 Mus musculus x Mus spretus 'Mus musculus x Mus spretus' SubClassOf 'Mus musculus' 'Mus musculus x Mus spretus' SubClassOf 'Mus' http://purl.obolibrary.org/obo/MONDO_0045050 nuclear cataract 'nuclear cataract' SubClassOf 'cataract' http://purl.obolibrary.org/obo/MONDO_0008112 obsolete Goldenhar syndrome 'obsolete Goldenhar syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/CHEBI_35780 phosphate ion 'phosphate ion' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/MONDO_0018641 obsolete paroxysmal nocturnal hemoglobinuria 'obsolete paroxysmal nocturnal hemoglobinuria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0004847 senile cataract 'senile cataract' SubClassOf 'cataract' http://purl.obolibrary.org/obo/MONDO_0016640 obsolete fibrous dysplasia of bone 'obsolete fibrous dysplasia of bone' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0016641 limb transversal defect-cardiac anomaly syndrome 'limb transversal defect-cardiac anomaly syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' 'limb transversal defect-cardiac anomaly syndrome' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' http://purl.obolibrary.org/obo/MONDO_0100284 X-linked intellectual disability 'X-linked intellectual disability' SubClassOf 'Rare genetic neurological disorder' 'X-linked intellectual disability' SubClassOf 'developmental disorder of mental health' 'X-linked intellectual disability' SubClassOf 'X-linked disease' http://purl.obolibrary.org/obo/MONDO_0100253 Roberts-SC phocomelia syndrome 'Roberts-SC phocomelia syndrome' SubClassOf 'syndromic disease' 'Roberts-SC phocomelia syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0100237 inherited cutis laxa 'inherited cutis laxa' SubClassOf 'Congenital entropion' 'inherited cutis laxa' SubClassOf 'syndromic diaphragmatic or thoracic malformation' 'inherited cutis laxa' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'inherited cutis laxa' SubClassOf 'syndromic diaphragmatic or abdominal wall malformation' 'inherited cutis laxa' EquivalentTo 'Cutis laxa' and ('has modifier' some 'inherited') 'inherited cutis laxa' SubClassOf 'Cutis laxa' 'inherited cutis laxa' SubClassOf 'Genetic dermis elastic tissue disorder' 'inherited cutis laxa' SubClassOf 'Malformation syndrome with connective tissue involvement' http://purl.obolibrary.org/obo/MONDO_0100238 inherited Fanconi renotubular syndrome 'inherited Fanconi renotubular syndrome' SubClassOf 'Genetic renal tubular disease' 'inherited Fanconi renotubular syndrome' SubClassOf 'Fanconi renotubular syndrome' http://purl.obolibrary.org/obo/MONDO_0100239 inherited hypertrophic pyloric stenosis 'inherited hypertrophic pyloric stenosis' SubClassOf 'infantile hypertrophic pyloric stenosis' 'inherited hypertrophic pyloric stenosis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0100240 inherited thrombophilia 'inherited thrombophilia' SubClassOf 'Rare genetic coagulation disorder' 'inherited thrombophilia' SubClassOf 'thrombophilia' http://purl.obolibrary.org/obo/MONDO_0100241 inherited thrombocytopenia 'inherited thrombocytopenia' SubClassOf 'genetic disorder' 'inherited thrombocytopenia' SubClassOf 'blood platelet disease' http://purl.obolibrary.org/obo/MONDO_0100242 glioma susceptibility 'glioma susceptibility' SubClassOf 'inherited disease susceptibility' 'glioma susceptibility' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'malignant glioma') 'glioma susceptibility' SubClassOf 'predisposes towards' some 'malignant glioma' http://purl.obolibrary.org/obo/MONDO_0100246 migraine with or without aura, susceptibility to 'migraine with or without aura, susceptibility to' SubClassOf 'inherited disease susceptibility' http://purl.obolibrary.org/obo/MONDO_0100247 multiple congenital anomalies-hypotonia-seizures syndrome 'multiple congenital anomalies-hypotonia-seizures syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.ebi.ac.uk/efo/EFO_0010972 blood phosphate measurement 'blood phosphate measurement' SubClassOf 'measurement' 'blood phosphate measurement' EquivalentTo 'measurement' and ('is_about' some 'phosphate ion') and ('is_about' some 'blood') http://www.ebi.ac.uk/efo/EFO_0010973 NOZ 'NOZ' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('gall bladder' and ('part of' some 'Homo sapiens')))) 'NOZ' SubClassOf 'cancer cell line' 'NOZ' SubClassOf 'Homo sapiens cell line' http://www.ebi.ac.uk/efo/EFO_0010978 chemotherapy-induced cytotoxicity measurement 'chemotherapy-induced cytotoxicity measurement' SubClassOf 'cytotoxicity measurement' http://www.ebi.ac.uk/efo/EFO_0010979 2-hydroxyisobutyrate measurement '2-hydroxyisobutyrate measurement' SubClassOf 'urinary metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0010976 KOLF2-C1 'KOLF2-C1' SubClassOf 'iPSC derived cell line' http://www.ebi.ac.uk/efo/EFO_0010977 macrovascular complications of diabetes 'macrovascular complications of diabetes' SubClassOf 'vascular disease' http://www.ebi.ac.uk/efo/EFO_0010994 n-methyl-2-pyridone-5-carboxamide measurement 'n-methyl-2-pyridone-5-carboxamide measurement' SubClassOf 'urinary metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0010995 n-methylnicotinic acid measurement 'n-methylnicotinic acid measurement' SubClassOf 'urinary metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0010992 hippurate measurement 'hippurate measurement' SubClassOf 'urinary metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0010993 n-acetyl neuraminic acid measurement 'n-acetyl neuraminic acid measurement' SubClassOf 'urinary metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0010990 dimethylamine measurement 'dimethylamine measurement' SubClassOf 'urinary metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0010991 formate measurement 'formate measurement' SubClassOf 'urinary metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0010998 p-cresol sulfate measurement 'p-cresol sulfate measurement' SubClassOf 'urinary metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0010999 p-hydroxyphenylacetate measurement 'p-hydroxyphenylacetate measurement' SubClassOf 'urinary metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0010996 n-methylpicolinic acid measurement 'n-methylpicolinic acid measurement' SubClassOf 'urinary metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0010997 n1-methyl-nicotinamide measurement 'n1-methyl-nicotinamide measurement' SubClassOf 'urinary metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0010983 3-hydroxyisobutyrate measurement '3-hydroxyisobutyrate measurement' SubClassOf 'urinary metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0010984 3-hydroxyisovalerate measurement '3-hydroxyisovalerate measurement' SubClassOf 'urinary metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0010982 3-hydroxybutyrate measurement '3-hydroxybutyrate measurement' SubClassOf 'urinary metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0010980 3-aminoisobutyrate measurement '3-aminoisobutyrate measurement' SubClassOf 'urinary metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0010989 acetone measurement 'acetone measurement' SubClassOf 'urinary metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0010987 4-deoxythreonic acid measurement '4-deoxythreonic acid measurement' SubClassOf 'urinary metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0010988 5-oxoproline measurement '5-oxoproline measurement' SubClassOf 'urinary metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0010985 3-Indoxylsulfate measurement '3-Indoxylsulfate measurement' SubClassOf 'urinary metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0010986 4-deoxyerythronic acid measurement '4-deoxyerythronic acid measurement' SubClassOf 'urinary metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0011017 B6-Ly5.1 'B6-Ly5.1' SubClassOf 'C57BL/6J' http://www.ebi.ac.uk/efo/EFO_0011016 immunoFISH 'immunoFISH' SubClassOf 'in-situ hybridization assay' http://www.ebi.ac.uk/efo/EFO_0011015 educational attainment 'educational attainment' SubClassOf 'measurement' http://www.ebi.ac.uk/efo/EFO_0011014 health-related quality of life measurement 'health-related quality of life measurement' SubClassOf 'measurement' http://www.ebi.ac.uk/efo/EFO_0011013 vaginal microbiome measurement 'vaginal microbiome measurement' SubClassOf 'microbiome measurement' http://www.ebi.ac.uk/efo/EFO_0011012 blood bicarbonate measurement 'blood bicarbonate measurement' SubClassOf 'blood metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0011011 sitting height measurement 'sitting height measurement' SubClassOf 'anthropometric measurement' http://www.ebi.ac.uk/efo/EFO_0011010 glycodeoxycholate 3-O-glucuronide measurement 'glycodeoxycholate 3-O-glucuronide measurement' SubClassOf 'glycodeoxycholate measurement' http://www.ebi.ac.uk/efo/EFO_0011005 urea measurement 'urea measurement' SubClassOf 'urinary metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0011004 trimethylamine oxide measurement 'trimethylamine oxide measurement' SubClassOf 'urinary metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0011003 trimethylamine measurement 'trimethylamine measurement' SubClassOf 'urinary metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0011002 succinate measurement 'succinate measurement' SubClassOf 'urinary metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0011001 scyllo-inositol measurement 'scyllo-inositol measurement' SubClassOf 'urinary metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0011000 proline betaine measurement 'proline betaine measurement' SubClassOf 'urinary metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0011009 glycochenodeoxycholate 3-O-glucuronide measurement 'glycochenodeoxycholate 3-O-glucuronide measurement' SubClassOf 'glycochenodeoxycholate measurement' http://www.ebi.ac.uk/efo/EFO_0011008 sex hormone measurement 'sex hormone measurement' SubClassOf 'hormone measurement' 'sex hormone measurement' EquivalentTo 'measurement' and ('is_about' some 'sex hormone') http://www.ebi.ac.uk/efo/EFO_0011007 estrogen measurement 'estrogen measurement' SubClassOf 'sex hormone measurement' 'estrogen measurement' SubClassOf 'is_about' some 'sex hormone' 'estrogen measurement' EquivalentTo 'measurement' and ('is_about' some 'estrogen') http://purl.obolibrary.org/obo/MONDO_0010766 obsolete 46,XX sex reversal 1 'obsolete 46,XX sex reversal 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0010303 obsolete colobomatous microphthalmia 'obsolete colobomatous microphthalmia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0009989 obsolete enhanced S-cone syndrome 'obsolete enhanced S-cone syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0013048 hereditary spastic paraplegia 50 'hereditary spastic paraplegia 50' SubClassOf 'Severe intellectual disability and progressive spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0017911 obsolete cleft lip/palate-ectodermal dysplasia syndrome 'obsolete cleft lip/palate-ectodermal dysplasia syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0001847 nuclear senile cataract 'nuclear senile cataract' SubClassOf 'senile cataract' 'nuclear senile cataract' SubClassOf 'nuclear cataract' http://purl.obolibrary.org/obo/MONDO_0013676 obsolete hypermethioninemia due to adenosine kinase deficiency 'obsolete hypermethioninemia due to adenosine kinase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0013551 hereditary spastic paraplegia 47 'hereditary spastic paraplegia 47' SubClassOf 'Severe intellectual disability and progressive spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0013552 hereditary spastic paraplegia 52 'hereditary spastic paraplegia 52' SubClassOf 'Severe intellectual disability and progressive spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0013401 hereditary spastic paraplegia 51 'hereditary spastic paraplegia 51' SubClassOf 'Severe intellectual disability and progressive spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0019013 non-histaminic angioedema 'non-histaminic angioedema' SubClassOf 'has modifier' some 'rare' 'non-histaminic angioedema' SubClassOf 'systemic or rheumatic disease' 'non-histaminic angioedema' SubClassOf 'angioedema' 'non-histaminic angioedema' SubClassOf 'allergic urticaria' http://purl.obolibrary.org/obo/MONDO_0007052 growth hormone secreting pituitary adenoma 1 'growth hormone secreting pituitary adenoma 1' SubClassOf 'Growth Hormone-Producing Pituitary Gland Adenoma' http://purl.obolibrary.org/obo/MONDO_0000834 bone deterioration disease 'bone deterioration disease' SubClassOf 'disease of bone structure' http://purl.obolibrary.org/obo/MONDO_0007806 hypotrichosis 4 'hypotrichosis 4' SubClassOf 'Marie Unna hereditary hypotrichosis' http://purl.obolibrary.org/obo/MONDO_0003656 hemoglobinuria 'hemoglobinuria' SubClassOf 'kidney disease'