726 38 3 http://www.orpha.net/ORDO/Orphanet_397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy 'Joubert syndrome with Jeune asphyxiating thoracic dystrophy' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_324761 Microcephalic primordial dwarfism 'Microcephalic primordial dwarfism' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_324764 Trichorhinophalangeal syndrome 'Trichorhinophalangeal syndrome' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_69126 Pyogenic arthritis - pyoderma gangrenosum - acne 'Pyogenic arthritis - pyoderma gangrenosum - acne' SubClassOf 'Rare genetic systemic or rheumatologic disease' http://www.orpha.net/ORDO/Orphanet_251274 Familial hyperaldosteronism type III 'Familial hyperaldosteronism type III' SubClassOf 'Genetic hyperaldosteronism' http://www.ebi.ac.uk/efo/EFO_0000430 ductal adenocarcinoma 'ductal adenocarcinoma' SubClassOf 'breast adenocarcinoma' 'ductal adenocarcinoma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000432 ductal carcinoma in situ 'ductal carcinoma in situ' SubClassOf 'ductal adenocarcinoma' 'ductal carcinoma in situ' SubClassOf 'breast ductal adenocarcinoma' http://www.orpha.net/ORDO/Orphanet_290839 Autoinflammatory syndrome with immune deficiency 'Autoinflammatory syndrome with immune deficiency' SubClassOf 'hereditary connective tissue disorder' http://www.ebi.ac.uk/efo/EFO_0000479 essential thrombocythemia 'essential thrombocythemia' SubClassOf 'rare genetic vascular tumor' 'essential thrombocythemia' SubClassOf 'Rare genetic coagulation disorder' http://purl.obolibrary.org/obo/MONDO_0008565 familial thyroglossal duct cyst 'familial thyroglossal duct cyst' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_1388 Catel-Manzke syndrome 'Catel-Manzke syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://purl.obolibrary.org/obo/MONDO_0008572 tibia, hypoplasia or aplasia of, with polydactyly 'tibia, hypoplasia or aplasia of, with polydactyly' SubClassOf 'inherited genetic disease' 'tibia, hypoplasia or aplasia of, with polydactyly' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008593 trichomegaly 'trichomegaly' SubClassOf 'inherited genetic disease' 'trichomegaly' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_1358 Carey-Fineman-Ziter syndrome 'Carey-Fineman-Ziter syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_1369 Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy 'Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy' SubClassOf 'Rare genetic systemic or rheumatologic disease' http://www.orpha.net/ORDO/Orphanet_1373 Cataract - aberrant oral frenula - growth delay 'Cataract - aberrant oral frenula - growth delay' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_1376 Congenital cataract - ichthyosis 'Congenital cataract - ichthyosis' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Congenital cataract - ichthyosis' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_1300 Autosomal dominant popliteal pterygium syndrome 'Autosomal dominant popliteal pterygium syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_1309 Medullary sponge kidney 'Medullary sponge kidney' SubClassOf 'Familial cystic renal disease' http://www.orpha.net/ORDO/Orphanet_1318 Campomelia, Cumming type 'Campomelia, Cumming type' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_1331 Familial prostate cancer 'Familial prostate cancer' SubClassOf 'inherited genetic disease' http://www.orpha.net/ORDO/Orphanet_1334 Chronic mucocutaneous candidosis 'Chronic mucocutaneous candidosis' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_1333 Familial pancreatic carcinoma 'Familial pancreatic carcinoma' SubClassOf 'inherited genetic disease' http://www.orpha.net/ORDO/Orphanet_371195 Congenital disorder of glycosylation-related bone disorder 'Congenital disorder of glycosylation-related bone disorder' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_371200 Congenital disorder of glycosylation with skin involvement 'Congenital disorder of glycosylation with skin involvement' SubClassOf 'genetic skin disease' http://www.ebi.ac.uk/efo/EFO_0002945 familial cardiomyopathy 'familial cardiomyopathy' SubClassOf 'inherited genetic disease' http://www.ebi.ac.uk/efo/EFO_0000330 childhood acute myeloid leukemia 'childhood acute myeloid leukemia' SubClassOf 'acute myeloid leukemia' 'childhood acute myeloid leukemia' SubClassOf 'acute leukemia of ambiguous lineage' 'childhood acute myeloid leukemia' SubClassOf 'Inherited acute myeloid leukemia' http://www.ebi.ac.uk/efo/EFO_1000318 Langerhans Cell Histiocytosis 'Langerhans Cell Histiocytosis' SubClassOf 'Rare genetic systemic or rheumatologic disease' http://www.orpha.net/ORDO/Orphanet_1297 Branchio-oculo-facial syndrome 'Branchio-oculo-facial syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_1296 Lambert syndrome 'Lambert syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_94063 12q14 microdeletion syndrome '12q14 microdeletion syndrome' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_1234 Bartsocas-Papas syndrome 'Bartsocas-Papas syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_1241 Bencze syndrome 'Bencze syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_1248 Maxillonasal dysplasia 'Maxillonasal dysplasia' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_157965 Ehlers-Danlos syndrome, spondylocheirodysplastic type 'Ehlers-Danlos syndrome, spondylocheirodysplastic type' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_157949 Combined immunodeficiency with skin granulomas 'Combined immunodeficiency with skin granulomas' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_104013 Metabolic disease with intestinal involvement 'Metabolic disease with intestinal involvement' SubClassOf 'metabolic disease' 'Metabolic disease with intestinal involvement' SubClassOf 'nutritional or metabolic disease' 'Metabolic disease with intestinal involvement' SubClassOf 'Inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_300547 Autosomal recessive infantile hypercalcemia 'Autosomal recessive infantile hypercalcemia' SubClassOf 'Inborn errors of metabolism' http://www.ebi.ac.uk/efo/EFO_0000660 polycystic ovary syndrome 'polycystic ovary syndrome' SubClassOf 'inherited genetic disease' 'polycystic ovary syndrome' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0009048 Intrahepatic cholestasis of pregnancy 'Intrahepatic cholestasis of pregnancy' SubClassOf 'biliary tract disease' 'Intrahepatic cholestasis of pregnancy' SubClassOf 'Genetic biliary tract disease' http://purl.obolibrary.org/obo/MONDO_0008343 pulmonary atresia with ventricular septal defect 'pulmonary atresia with ventricular septal defect' SubClassOf 'inherited genetic disease' 'pulmonary atresia with ventricular septal defect' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_33445 Neuroectodermal melanolysosomal disease 'Neuroectodermal melanolysosomal disease' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_1512 Crane-Heise syndrome 'Crane-Heise syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_1522 Craniometaphyseal dysplasia 'Craniometaphyseal dysplasia' SubClassOf 'familial osteosclerosis' http://www.ebi.ac.uk/efo/EFO_1000146 Breast Mucosa-Associated Lymphoid Tissue Lymphoma 'Breast Mucosa-Associated Lymphoid Tissue Lymphoma' SubClassOf 'breast carcinoma' 'Breast Mucosa-Associated Lymphoid Tissue Lymphoma' SubClassOf 'Hereditary breast cancer' http://www.ebi.ac.uk/efo/EFO_1000157 Central Nervous System Lymphoma 'Central Nervous System Lymphoma' SubClassOf 'Rare genetic neurological disorder' http://www.ebi.ac.uk/efo/EFO_1000174 Chondroid Chordoma 'Chondroid Chordoma' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_397623 Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome 'Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome' SubClassOf 'hereditary connective tissue disorder' http://www.ebi.ac.uk/efo/EFO_0000508 genetic disorder 'genetic disorder' SubClassOf 'disease' 'genetic disorder' SubClassOf 'has modifier' some 'inherited' 'genetic disorder' SubClassOf 'disease' 'genetic disorder' EquivalentTo 'disease' and ('has modifier' some 'inherited') http://www.orpha.net/ORDO/Orphanet_1466 COFS syndrome 'COFS syndrome' SubClassOf 'demyelinating disease' 'COFS syndrome' SubClassOf 'corpus callosum, agenesis of' 'COFS syndrome' SubClassOf 'Syndromic cataract' http://www.orpha.net/ORDO/Orphanet_1473 Uveal coloboma - cleft lip and palate - intellectual disability 'Uveal coloboma - cleft lip and palate - intellectual disability' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_1475 Renal coloboma syndrome 'Renal coloboma syndrome' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_1484 Contractures - ectodermal dysplasia - cleft lip/palate 'Contractures - ectodermal dysplasia - cleft lip/palate' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_1493 Vici syndrome 'Vici syndrome' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_1426 Greenberg dysplasia 'Greenberg dysplasia' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_1436 Skeletal dysplasia - intellectual disability 'Skeletal dysplasia - intellectual disability' SubClassOf 'hereditary connective tissue disorder' http://www.ebi.ac.uk/efo/EFO_1000077 AIDS-Related Primary Central Nervous System Lymphoma 'AIDS-Related Primary Central Nervous System Lymphoma' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_1458 CODAS syndrome 'CODAS syndrome' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_226316 Genetic transient congenital hypothyroidism 'Genetic transient congenital hypothyroidism' SubClassOf 'inherited genetic disease' 'Genetic transient congenital hypothyroidism' SubClassOf 'Congenital hypothyroidism' http://www.orpha.net/ORDO/Orphanet_59305 Gestational trophoblastic neoplasm 'Gestational trophoblastic neoplasm' SubClassOf 'Genetic gynecological tumor' http://www.orpha.net/ORDO/Orphanet_96333 Rare otorhinolaryngological malformation 'Rare otorhinolaryngological malformation' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_98958 Honey-droplet corneal dystrophy 'Honey-droplet corneal dystrophy' SubClassOf 'disease' 'Honey-droplet corneal dystrophy' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0060712 developmental delay, intellectual disability, obesity, and dysmorphic features 'developmental delay, intellectual disability, obesity, and dysmorphic features' SubClassOf 'inherited genetic disease' 'developmental delay, intellectual disability, obesity, and dysmorphic features' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0021106 laminopathy 'laminopathy' SubClassOf 'inherited genetic disease' 'laminopathy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0060759 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 'neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures' SubClassOf 'inherited genetic disease' 'neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0060745 intellectual developmental disorder with or without epilepsy or cerebellar ataxia 'intellectual developmental disorder with or without epilepsy or cerebellar ataxia' SubClassOf 'inherited genetic disease' 'intellectual developmental disorder with or without epilepsy or cerebellar ataxia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0060722 neurodevelopmental disorder with brain, liver, and lung abnormalities 'neurodevelopmental disorder with brain, liver, and lung abnormalities' SubClassOf 'inherited genetic disease' 'neurodevelopmental disorder with brain, liver, and lung abnormalities' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0060593 actn3 deficiency 'actn3 deficiency' SubClassOf 'inherited genetic disease' 'actn3 deficiency' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0060596 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 'neurodevelopmental disorder with dysmorphic facies and distal limb anomalies' SubClassOf 'inherited genetic disease' 'neurodevelopmental disorder with dysmorphic facies and distal limb anomalies' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_50811 Lipodystrophy - intellectual disability - deafness 'Lipodystrophy - intellectual disability - deafness' SubClassOf 'hereditary connective tissue disorder' http://purl.obolibrary.org/obo/MONDO_0060578 neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures 'neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures' SubClassOf 'inherited genetic disease' 'neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0000717 systemic scleroderma 'systemic scleroderma' SubClassOf 'Familial restrictive cardiomyopathy' 'systemic scleroderma' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_141118 Nasal encephalocele 'Nasal encephalocele' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_96210 Rare genetic deafness 'Rare genetic deafness' SubClassOf 'genetic disorder' 'Rare genetic deafness' SubClassOf 'auditory system disease' 'Rare genetic deafness' SubClassOf 'inherited auditory system disease' http://www.orpha.net/ORDO/Orphanet_3366 Isolated trigonocephaly 'Isolated trigonocephaly' SubClassOf 'Rare genetic neurological disorder' http://www.ebi.ac.uk/efo/EFO_0009160 stromme syndrome 'stromme syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0022409 http://www.orpha.net/ORDO/Orphanet_3440 Waardenburg syndrome 'Waardenburg syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_3449 Weill-Marchesani syndrome 'Weill-Marchesani syndrome' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_3448 Weaver-Williams syndrome 'Weaver-Williams syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder 'hereditary connective tissue disorder' SubClassOf 'inherited genetic disease' 'hereditary connective tissue disorder' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_3450 Weissenbacher- Zweymuller syndrome 'Weissenbacher- Zweymuller syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'Weissenbacher- Zweymuller syndrome' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_3463 Wolfram syndrome 'Wolfram syndrome' SubClassOf 'Inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_84271 Sporadic idiopathic steroid-resistant nephrotic syndrome 'Sporadic idiopathic steroid-resistant nephrotic syndrome' SubClassOf 'Familial idiopathic steroid-resistant nephrotic syndrome' http://www.orpha.net/ORDO/Orphanet_3429 Verloove Vanhorick-Brubakk syndrome 'Verloove Vanhorick-Brubakk syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_275534 Myostatin-related muscle hypertrophy 'Myostatin-related muscle hypertrophy' SubClassOf 'inherited genetic disease' 'Myostatin-related muscle hypertrophy' SubClassOf 'genetic disorder' 'Myostatin-related muscle hypertrophy' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_3424 Velo-facial-skeletal syndrome 'Velo-facial-skeletal syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://purl.obolibrary.org/obo/MONDO_0060631 Alkuraya-Kucinskas syndrome 'Alkuraya-Kucinskas syndrome' SubClassOf 'inherited genetic disease' 'Alkuraya-Kucinskas syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0060622 neurodevelopmental disorder with severe motor impairment and absent language 'neurodevelopmental disorder with severe motor impairment and absent language' SubClassOf 'inherited genetic disease' 'neurodevelopmental disorder with severe motor impairment and absent language' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0060627 glycosylphosphatidylinositol biosynthesis defect 15 'glycosylphosphatidylinositol biosynthesis defect 15' SubClassOf 'inherited genetic disease' 'glycosylphosphatidylinositol biosynthesis defect 15' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'glycosylphosphatidylinositol biosynthesis defect 15' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' 'glycosylphosphatidylinositol biosynthesis defect 15' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0060611 combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia 'combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia' SubClassOf 'inherited genetic disease' 'combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0033043 spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 'spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy' SubClassOf 'Spastic ataxia' 'spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy' SubClassOf 'Leukodystrophy' 'spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy' SubClassOf 'Autosomal recessive spastic ataxia' http://purl.obolibrary.org/obo/MONDO_0060663 congenital heart defects, multiple types, 5 'congenital heart defects, multiple types, 5' SubClassOf 'inherited genetic disease' 'congenital heart defects, multiple types, 5' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0060641 neurodevelopmental disorder with or without seizures and gait abnormalities 'neurodevelopmental disorder with or without seizures and gait abnormalities' SubClassOf 'inherited genetic disease' 'neurodevelopmental disorder with or without seizures and gait abnormalities' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_202940 Anomaly of puberty or/and menstrual cycle of genetic origin 'Anomaly of puberty or/and menstrual cycle of genetic origin' SubClassOf 'inherited genetic disease' http://purl.obolibrary.org/obo/MONDO_0060490 neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies 'neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies' SubClassOf 'inherited genetic disease' 'neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0060491 neurodevelopmental disorder with involuntary movements 'neurodevelopmental disorder with involuntary movements' SubClassOf 'inherited genetic disease' 'neurodevelopmental disorder with involuntary movements' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_1077 Dental ankylosis 'Dental ankylosis' SubClassOf 'inherited genetic disease' http://www.orpha.net/ORDO/Orphanet_1074 Ankyloblepharon filiforme - imperforate anus 'Ankyloblepharon filiforme - imperforate anus' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_1071 Ankyloblepharon - ectodermal defects - cleft lip/palate 'Ankyloblepharon - ectodermal defects - cleft lip/palate' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_1072 Ankyloblepharon filiforme adnatum - cleft palate 'Ankyloblepharon filiforme adnatum - cleft palate' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_248296 Constitutional deficiency anemia 'Constitutional deficiency anemia' SubClassOf 'inherited genetic disease' http://www.orpha.net/ORDO/Orphanet_1116 Aplasia cutis congenita - intestinal lymphangiectasia 'Aplasia cutis congenita - intestinal lymphangiectasia' SubClassOf 'Milroy disease' http://www.orpha.net/ORDO/Orphanet_1133 AREDYLD syndrome 'AREDYLD syndrome' SubClassOf 'Inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_1131 X-linked mandibulofacial dysostosis 'X-linked mandibulofacial dysostosis' SubClassOf 'genetic otorhinolaryngologic disease' http://purl.obolibrary.org/obo/MONDO_0060510 Cohen-Gibson syndrome 'Cohen-Gibson syndrome' SubClassOf 'inherited genetic disease' 'Cohen-Gibson syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0060502 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies 'neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies' SubClassOf 'inherited genetic disease' 'neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies' SubClassOf 'congenital nervous system disorder' 'neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies' SubClassOf 'syndromic hereditary optic neuropathy' 'neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0060507 retinal dystrophy with or without macular staphyloma 'retinal dystrophy with or without macular staphyloma' SubClassOf 'inherited genetic disease' 'retinal dystrophy with or without macular staphyloma' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0060549 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay 'congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay' SubClassOf 'inherited genetic disease' 'congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0060533 microcephaly, short stature, and limb abnormalities 'microcephaly, short stature, and limb abnormalities' SubClassOf 'inherited genetic disease' 'microcephaly, short stature, and limb abnormalities' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_275752 Sickle cell disease and related diseases 'Sickle cell disease and related diseases' SubClassOf 'Hemoglobinopathy' http://www.orpha.net/ORDO/Orphanet_275742 Genetic infertility 'Genetic infertility' SubClassOf 'inherited genetic disease' http://www.orpha.net/ORDO/Orphanet_1044 Anemia due to adenosine triphosphatase deficiency 'Anemia due to adenosine triphosphatase deficiency' SubClassOf 'inherited genetic disease' 'Anemia due to adenosine triphosphatase deficiency' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_275777 Heritable pulmonary arterial hypertension 'Heritable pulmonary arterial hypertension' SubClassOf 'primary pulmonary hypertension' 'Heritable pulmonary arterial hypertension' SubClassOf 'pulmonary arterial hypertension' 'Heritable pulmonary arterial hypertension' SubClassOf 'Rare genetic respiratory disease' http://www.orpha.net/ORDO/Orphanet_275766 Idiopathic pulmonary arterial hypertension 'Idiopathic pulmonary arterial hypertension' SubClassOf 'Heritable pulmonary arterial hypertension' http://www.orpha.net/ORDO/Orphanet_79389 Premature aging 'Premature aging' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_79388 Mucopolysaccharidosis with skin involvement 'Mucopolysaccharidosis with skin involvement' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_79385 Unclassified genetic skin disorder 'Unclassified genetic skin disorder' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_79387 Metabolic disease with skin involvement 'Metabolic disease with skin involvement' SubClassOf 'nutritional or metabolic disease' 'Metabolic disease with skin involvement' SubClassOf 'genetic skin disease' 'Metabolic disease with skin involvement' SubClassOf 'Inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_79360 Other genetic epidermal disease 'Other genetic epidermal disease' SubClassOf 'disease' 'Other genetic epidermal disease' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0018740 drug-induced methemoglobinemia 'drug-induced methemoglobinemia' SubClassOf 'Hereditary methemoglobinemia' http://www.orpha.net/ORDO/Orphanet_280651 Acrodysostosis with multiple hormone resistance 'Acrodysostosis with multiple hormone resistance' SubClassOf 'genetic otorhinolaryngologic disease' http://purl.obolibrary.org/obo/MONDO_0018751 genetic otorhinolaryngologic disease 'genetic otorhinolaryngologic disease' SubClassOf 'inherited genetic disease' 'genetic otorhinolaryngologic disease' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_73 Gorham-Stout disease 'Gorham-Stout disease' SubClassOf 'Genetic vascular anomaly' http://www.orpha.net/ORDO/Orphanet_84 Fanconi anemia 'Fanconi anemia' SubClassOf 'Inborn errors of metabolism' 'Fanconi anemia' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_86 Familial abdominal aortic aneurysm 'Familial abdominal aortic aneurysm' SubClassOf 'inherited genetic disease' http://www.orpha.net/ORDO/Orphanet_87 Apert syndrome 'Apert syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'Apert syndrome' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_56 Alkaptonuria 'Alkaptonuria' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_52 Alagille syndrome 'Alagille syndrome' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_55 Oculocutaneous albinism 'Oculocutaneous albinism' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_280615 Hemoglobinopathy Toms River 'Hemoglobinopathy Toms River' SubClassOf 'Hemoglobinopathy' http://www.orpha.net/ORDO/Orphanet_61 Alpha-mannosidosis 'Alpha-mannosidosis' SubClassOf 'Rare genetic systemic or rheumatologic disease' http://www.orpha.net/ORDO/Orphanet_63 Alport syndrome 'Alport syndrome' SubClassOf 'Rare genetic systemic or rheumatologic disease' http://www.orpha.net/ORDO/Orphanet_37 Acrodermatitis enteropathica 'Acrodermatitis enteropathica' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0016167 optic pathway glioma 'optic pathway glioma' SubClassOf 'hereditary connective tissue disorder' 'optic pathway glioma' SubClassOf 'urogenital neoplasm' http://www.ebi.ac.uk/efo/EFO_0004760 t-tau measurement 't-tau measurement' SubClassOf 'cerebrospinal fluid biomarker measurement' http://www.ebi.ac.uk/efo/EFO_0004799 cholelithiasis 'cholelithiasis' SubClassOf 'inherited genetic disease' 'cholelithiasis' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_79408 Severe generalized recessive dystrophic epidermolysis bullosa 'Severe generalized recessive dystrophic epidermolysis bullosa' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_79404 Junctional epidermolysis bullosa, Herlitz type 'Junctional epidermolysis bullosa, Herlitz type' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_280569 Rapidly progressive glomerulonephritis 'Rapidly progressive glomerulonephritis' SubClassOf 'hereditary nephritis' http://www.orpha.net/ORDO/Orphanet_280576 Nestor-Guillermo progeria syndrome 'Nestor-Guillermo progeria syndrome' SubClassOf 'genetic skin disease' 'Nestor-Guillermo progeria syndrome' SubClassOf 'hereditary connective tissue disorder' http://purl.obolibrary.org/obo/MONDO_0018699 pseudohypoparathyroidism with Albright hereditary osteodystrophy 'pseudohypoparathyroidism with Albright hereditary osteodystrophy' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'pseudohypoparathyroidism with Albright hereditary osteodystrophy' SubClassOf 'Rare genetic neurological disorder' 'pseudohypoparathyroidism with Albright hereditary osteodystrophy' SubClassOf 'hereditary connective tissue disorder' http://www.ebi.ac.uk/efo/EFO_0004670 beta-amyloid 1-42 measurement 'beta-amyloid 1-42 measurement' SubClassOf 'is_about' some 'cerebrospinal fluid' 'beta-amyloid 1-42 measurement' SubClassOf 'cerebrospinal fluid biomarker measurement' 'beta-amyloid 1-42 measurement' SubClassOf 'is_about' some ('cerebrospinal fluid' and ('has_role' some 'biomarker')) http://www.orpha.net/ORDO/Orphanet_363649 Mandibular hypoplasia-deafness-progeroid syndrome 'Mandibular hypoplasia-deafness-progeroid syndrome' SubClassOf 'genetic skin disease' http://www.ebi.ac.uk/efo/EFO_0002057 HCC1008 'HCC1008' SubClassOf 'bearer_of' some 'ductal adenocarcinoma' 'HCC1008' SubClassOf 'bearer_of' some 'breast ductal adenocarcinoma' http://www.orpha.net/ORDO/Orphanet_79345 Brachytelephalangic chondrodysplasia punctata 'Brachytelephalangic chondrodysplasia punctata' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_79344 Autosomal dominant chondrodysplasia punctata 'Autosomal dominant chondrodysplasia punctata' SubClassOf 'hereditary connective tissue disorder' http://www.ebi.ac.uk/efo/EFO_1000886 cutaneous mastocytosis 'cutaneous mastocytosis' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0018575 microcephalic primordial dwarfism-insulin resistance syndrome 'microcephalic primordial dwarfism-insulin resistance syndrome' SubClassOf 'Inborn errors of metabolism' http://www.ebi.ac.uk/efo/EFO_0004994 lumbar disc degeneration 'lumbar disc degeneration' SubClassOf 'inherited genetic disease' 'lumbar disc degeneration' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_399380 Osteonecrosis of genetic origin 'Osteonecrosis of genetic origin' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_79474 Atypical Werner syndrome 'Atypical Werner syndrome' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0018438 eosinophilic gastrointestinal disease 'eosinophilic gastrointestinal disease' SubClassOf 'disease' 'eosinophilic gastrointestinal disease' SubClassOf 'intestinal disease' http://www.ebi.ac.uk/efo/EFO_1000946 gastric mucosal hypertrophy 'gastric mucosal hypertrophy' SubClassOf 'inherited genetic disease' 'gastric mucosal hypertrophy' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_289098 Disorders of vitamin D metabolism 'Disorders of vitamin D metabolism' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_300345 Autosomal recessive systemic lupus erythematosus 'Autosomal recessive systemic lupus erythematosus' SubClassOf 'systemic autoimmune disease' 'Autosomal recessive systemic lupus erythematosus' SubClassOf 'systemic autoimmune disease' 'Autosomal recessive systemic lupus erythematosus' SubClassOf 'lupus erythematosus' 'Autosomal recessive systemic lupus erythematosus' SubClassOf 'Genetic thrombotic microangiopathy' 'Autosomal recessive systemic lupus erythematosus' SubClassOf 'secondary glomerular disease' 'Autosomal recessive systemic lupus erythematosus' SubClassOf 'autoimmune disease' http://purl.obolibrary.org/obo/MONDO_0008913 cardiac valvular defect, developmental 'cardiac valvular defect, developmental' SubClassOf 'inherited genetic disease' 'cardiac valvular defect, developmental' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_363972 Noonan syndrome-like disorder with juvenile myelomonocytic leukemia 'Noonan syndrome-like disorder with juvenile myelomonocytic leukemia' SubClassOf 'Noonan syndrome and Noonan-related syndrome' 'Noonan syndrome-like disorder with juvenile myelomonocytic leukemia' SubClassOf 'rasopathy' 'Noonan syndrome-like disorder with juvenile myelomonocytic leukemia' SubClassOf 'Noonan syndrome and Noonan-related syndrome' http://www.orpha.net/ORDO/Orphanet_1794 Oculomaxillofacial dysostosis 'Oculomaxillofacial dysostosis' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_289365 Familial vesicoureteral reflux 'Familial vesicoureteral reflux' SubClassOf 'inherited genetic disease' http://www.orpha.net/ORDO/Orphanet_1600 Monosomy 18q 'Monosomy 18q' SubClassOf 'genetic otorhinolaryngologic disease' http://purl.obolibrary.org/obo/MONDO_0008848 atrioventricular dissociation (disease) 'atrioventricular dissociation (disease)' SubClassOf 'inherited genetic disease' 'atrioventricular dissociation (disease)' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0002517 pancreatic ductal adenocarcinoma 'pancreatic ductal adenocarcinoma' SubClassOf 'ductal adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0002428 chronic myeloproliferative disorder 'chronic myeloproliferative disorder' SubClassOf 'hereditary connective tissue disorder' http://www.ebi.ac.uk/efo/EFO_0002429 polycythemia vera 'polycythemia vera' SubClassOf 'Genetic polycythemia' http://www.orpha.net/ORDO/Orphanet_1667 Wolcott-Rallison syndrome 'Wolcott-Rallison syndrome' SubClassOf 'Inborn errors of metabolism' 'Wolcott-Rallison syndrome' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_79149 Dermochondrocorneal dystrophy 'Dermochondrocorneal dystrophy' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_79142 Familial Dupuytren contracture 'Familial Dupuytren contracture' SubClassOf 'hereditary connective tissue disorder' 'Familial Dupuytren contracture' SubClassOf 'Genetic soft tissue tumor' http://www.orpha.net/ORDO/Orphanet_79134 DEND syndrome 'DEND syndrome' SubClassOf 'Inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_1956 Erythromelalgia 'Erythromelalgia' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_79113 Mandibulofacial dysostosis-microcephaly syndrome 'Mandibulofacial dysostosis-microcephaly syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_1900 Ehlers-Danlos syndrome, kyphoscoliotic type 'Ehlers-Danlos syndrome, kyphoscoliotic type' SubClassOf 'hereditary connective tissue disorder' 'Ehlers-Danlos syndrome, kyphoscoliotic type' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome 'Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome' SubClassOf 'Rare genetic neurological disorder' 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_0000221 acute monocytic leukemia 'acute monocytic leukemia' SubClassOf 'acute myeloid leukemia' 'acute monocytic leukemia' SubClassOf 'acute leukemia of ambiguous lineage' 'acute monocytic leukemia' SubClassOf 'Inherited acute myeloid leukemia' http://www.ebi.ac.uk/efo/EFO_0000223 acute myelomonocytic leukemia 'acute myelomonocytic leukemia' SubClassOf 'Inherited acute myeloid leukemia' 'acute myelomonocytic leukemia' SubClassOf 'acute myeloid leukemia' 'acute myelomonocytic leukemia' SubClassOf 'acute leukemia of ambiguous lineage' http://purl.obolibrary.org/obo/MONDO_0018170 idiopathic nephrotic syndrome 'idiopathic nephrotic syndrome' SubClassOf 'familial nephrotic syndrome' http://www.ebi.ac.uk/efo/EFO_0000198 myelodysplastic syndrome 'myelodysplastic syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' http://www.ebi.ac.uk/efo/EFO_0000186 invasive ductal carcinoma 'invasive ductal carcinoma' SubClassOf 'ductal adenocarcinoma' 'invasive ductal carcinoma' SubClassOf 'breast ductal adenocarcinoma' http://www.orpha.net/ORDO/Orphanet_314802 Short stature due to partial GHR deficiency 'Short stature due to partial GHR deficiency' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_1988 Femoral-facial syndrome 'Femoral-facial syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_1997 Blepharo-cheilo-odontic syndrome 'Blepharo-cheilo-odontic syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_1995 Cleft lip - retinopathy 'Cleft lip - retinopathy' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_1993 Pai syndrome 'Pai syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_79213 Mucopolysaccharidosis 'Mucopolysaccharidosis' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_67047 3-methylglutaconic aciduria type 3 '3-methylglutaconic aciduria type 3' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_67045 X-linked intellectual disability with isolated growth hormone deficiency 'X-linked intellectual disability with isolated growth hormone deficiency' SubClassOf 'Combined pituitary hormone deficiencies, genetic forms' http://www.orpha.net/ORDO/Orphanet_1826 Frontometaphyseal dysplasia 'Frontometaphyseal dysplasia' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_1851 Multicystic dysplastic kidney 'Multicystic dysplastic kidney' SubClassOf 'Familial cystic renal disease' http://www.orpha.net/ORDO/Orphanet_1806 Ectodermal dysplasia - blindness 'Ectodermal dysplasia - blindness' SubClassOf 'Rare genetic neurological disorder' http://www.ebi.ac.uk/efo/EFO_0002710 COLO357 'COLO357' SubClassOf 'breast adenocarcinoma cell line' 'COLO357' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0002714 Panc89 'Panc89' SubClassOf 'breast adenocarcinoma cell line' 'Panc89' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0002713 Panc1 'Panc1' SubClassOf 'breast adenocarcinoma cell line' 'Panc1' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0002716 Pt45P1 'Pt45P1' SubClassOf 'breast adenocarcinoma cell line' 'Pt45P1' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0002715 PancTUI 'PancTUI' SubClassOf 'breast adenocarcinoma cell line' 'PancTUI' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0002709 BxPC-3 'BxPC-3' SubClassOf 'breast adenocarcinoma cell line' 'BxPC-3' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_1000543 Spinal Chordoma 'Spinal Chordoma' SubClassOf 'Rare genetic neurological disorder' http://purl.obolibrary.org/obo/MONDO_0008666 volvulus of midgut 'volvulus of midgut' SubClassOf 'inherited genetic disease' 'volvulus of midgut' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008691 zinc, elevated plasma 'zinc, elevated plasma' SubClassOf 'inherited genetic disease' 'zinc, elevated plasma' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0002690 systemic lupus erythematosus 'systemic lupus erythematosus' SubClassOf 'type 1 interferonopathy' 'systemic lupus erythematosus' SubClassOf 'Genetic thrombotic microangiopathy' 'systemic lupus erythematosus' SubClassOf 'systemic autoimmune disease' 'systemic lupus erythematosus' SubClassOf 'secondary glomerular disease' http://purl.obolibrary.org/obo/MONDO_0043003 familial acanthosis nigricans 'familial acanthosis nigricans' SubClassOf 'genetic skin disease' 'familial acanthosis nigricans' SubClassOf 'Genetic pigmentation anomaly of the skin' 'familial acanthosis nigricans' SubClassOf 'dermatitis' http://www.orpha.net/ORDO/Orphanet_1867 Bullous dystrophy, macular type 'Bullous dystrophy, macular type' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_1885 Isolated ectopia lentis 'Isolated ectopia lentis' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_57782 Mazabraud syndrome 'Mazabraud syndrome' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_1896 EEC syndrome 'EEC syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome 'familial nephrotic syndrome' SubClassOf 'inherited genetic disease' 'familial nephrotic syndrome' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_90642 Syndromic genetic deafness 'Syndromic genetic deafness' SubClassOf 'inherited auditory system disease' http://purl.obolibrary.org/obo/MONDO_0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency 'severe early-onset pulmonary alveolar proteinosis due to MARS deficiency' SubClassOf 'Congenital pulmonary alveolar proteinosis' http://purl.obolibrary.org/obo/MONDO_0014263 Verheij syndrome 'Verheij syndrome' SubClassOf 'inherited genetic disease' 'Verheij syndrome' SubClassOf 'Rare syndrome with cardiac malformations' 'Verheij syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'Verheij syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Verheij syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Verheij syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 8' http://www.orpha.net/ORDO/Orphanet_163746 Neurologic Waardenburg-Shah syndrome 'Neurologic Waardenburg-Shah syndrome' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_222628 Hereditary poikiloderma 'Hereditary poikiloderma' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_77830 Rare genetic odontologic disease 'Rare genetic odontologic disease' SubClassOf 'has modifier' some 'rare' 'Rare genetic odontologic disease' SubClassOf 'disease' 'Rare genetic odontologic disease' SubClassOf 'tooth disease' 'Rare genetic odontologic disease' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_244305 Dominant hypophosphatemia with nephrolithiasis or osteoporosis 'Dominant hypophosphatemia with nephrolithiasis or osteoporosis' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_89842 Recessive dystrophic epidermolysis bullosa-generalized other 'Recessive dystrophic epidermolysis bullosa-generalized other' SubClassOf 'Rare genetic neurological 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 'Inborn errors of metabolism' http://www.ebi.ac.uk/efo/EFO_0005410 tooth agenesis 'tooth agenesis' SubClassOf 'tooth disease' http://www.orpha.net/ORDO/Orphanet_329475 Spastic paraplegia - Paget disease of bone 'Spastic paraplegia - Paget disease of bone' SubClassOf 'hereditary connective tissue disorder' http://www.ebi.ac.uk/efo/EFO_0005372 HCC1419 'HCC1419' SubClassOf 'bearer_of' some 'ductal adenocarcinoma' 'HCC1419' SubClassOf 'bearer_of' some 'breast ductal adenocarcinoma' http://www.orpha.net/ORDO/Orphanet_271870 Rare genetic systemic or rheumatologic disease 'Rare genetic systemic or rheumatologic disease' SubClassOf 'inherited genetic disease' http://www.orpha.net/ORDO/Orphanet_271841 Genetic cardiac tumor 'Genetic cardiac tumor' SubClassOf 'inherited genetic disease' http://www.orpha.net/ORDO/Orphanet_99097 Single ventricular septal defect 'Single ventricular septal defect' SubClassOf 'inherited genetic disease' http://www.orpha.net/ORDO/Orphanet_271835 Genetic digestive tract tumor 'Genetic digestive tract tumor' SubClassOf 'inherited genetic disease' http://www.orpha.net/ORDO/Orphanet_271832 Genetic soft tissue tumor 'Genetic soft tissue tumor' SubClassOf 'inherited genetic disease' http://www.orpha.net/ORDO/Orphanet_220295 Xeroderma pigmentosum-Cockayne syndrome complex 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_53715 Tumoral calcinosis 'Tumoral calcinosis' SubClassOf 'Inborn errors of metabolism' http://www.ebi.ac.uk/efo/EFO_0005303 sudden infant death syndrome 'sudden infant death syndrome' SubClassOf 'inherited genetic disease' 'sudden infant death syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0016542 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome 'immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome' SubClassOf 'hereditary connective tissue disorder' http://purl.obolibrary.org/obo/MONDO_0016556 transient congenital hypothyroidism due to neonatal factor 'transient congenital hypothyroidism due to neonatal factor' SubClassOf 'Congenital hypothyroidism' http://www.orpha.net/ORDO/Orphanet_158038 Primary hemophagocytic lymphohistiocytosis 'Primary hemophagocytic lymphohistiocytosis' SubClassOf 'inherited genetic disease' http://www.orpha.net/ORDO/Orphanet_77243 Lipedema 'Lipedema' SubClassOf 'Lymphedema' 'Lipedema' SubClassOf 'Milroy disease' http://www.ebi.ac.uk/efo/EFO_0003027 acute myeloblastic leukemia without maturation 'acute myeloblastic leukemia without maturation' SubClassOf 'acute myeloid leukemia' 'acute myeloblastic leukemia without maturation' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloblastic leukemia without maturation' SubClassOf 'acute leukemia of ambiguous lineage' http://www.ebi.ac.uk/efo/EFO_0003029 acute basophilic leukemia 'acute basophilic leukemia' SubClassOf 'acute leukemia of ambiguous lineage' 'acute basophilic leukemia' SubClassOf 'Inherited acute myeloid leukemia' 'acute basophilic leukemia' SubClassOf 'acute myeloid leukemia' http://www.ebi.ac.uk/efo/EFO_0003028 acute myeloblastic leukemia with maturation 'acute myeloblastic leukemia with maturation' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloblastic leukemia with maturation' SubClassOf 'acute myeloid leukemia' 'acute myeloblastic leukemia with maturation' SubClassOf 'acute leukemia of ambiguous lineage' http://www.orpha.net/ORDO/Orphanet_65288 Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis 'Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis' SubClassOf 'Inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_220497 Joubert syndrome with renal defect 'Joubert syndrome with renal defect' SubClassOf http://purl.obolibrary.org/obo/MONDO_0022409 http://www.orpha.net/ORDO/Orphanet_90039 Hemoglobin D disease 'Hemoglobin D disease' SubClassOf 'Hemoglobinopathy' http://purl.obolibrary.org/obo/MONDO_0016441 acquired pseudoxanthoma elasticum 'acquired pseudoxanthoma elasticum' SubClassOf 'pseudoxanthoma elasticum (inherited or acquired)' 'acquired pseudoxanthoma elasticum' SubClassOf 'Pseudoxanthoma elasticum' http://www.ebi.ac.uk/efo/EFO_0005576 pernicious anemia 'pernicious anemia' SubClassOf 'inherited genetic disease' 'pernicious anemia' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_364577 Intellectual disability-brachydactyly-Pierre Robin syndrome 'Intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_28455 Pancreatic beta cell agenesis with neonatal diabetes mellitus 'Pancreatic beta cell agenesis with neonatal diabetes mellitus' SubClassOf 'inherited genetic disease' 'Pancreatic beta cell agenesis with neonatal diabetes mellitus' SubClassOf 'Inborn errors of metabolism' 'Pancreatic beta cell agenesis with neonatal diabetes mellitus' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_100974 FRAXF syndrome 'FRAXF syndrome' SubClassOf 'inherited genetic disease' 'FRAXF syndrome' SubClassOf 'genetic disorder' 'FRAXF syndrome' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_329903 Immunoglobulin-mediated membranoproliferative glomerulonephritis 'Immunoglobulin-mediated membranoproliferative glomerulonephritis' SubClassOf 'hereditary nephritis' 'Immunoglobulin-mediated membranoproliferative glomerulonephritis' SubClassOf 'Inborn errors of metabolism' 'Immunoglobulin-mediated membranoproliferative glomerulonephritis' SubClassOf 'Rare genetic coagulation disorder' http://purl.obolibrary.org/obo/MONDO_0018827 familial chilblain lupus 'familial chilblain lupus' SubClassOf 'Chilblain lupus' 'familial chilblain lupus' SubClassOf 'autoimmune disease with skin involvement' 'familial chilblain lupus' SubClassOf 'skin vascular disease' 'familial chilblain lupus' SubClassOf 'Genetic skin vascular disorder' 'familial chilblain lupus' SubClassOf 'chronic cutaneous lupus erythematosus' 'familial chilblain lupus' SubClassOf 'autoimmune disease of cardiovascular system' http://www.orpha.net/ORDO/Orphanet_77297 Majeed syndrome 'Majeed syndrome' SubClassOf 'Rare genetic systemic or rheumatologic disease' http://purl.obolibrary.org/obo/MONDO_0100071 cardiocutaneous syndrome 'cardiocutaneous syndrome' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_90280 Chilblain lupus 'Chilblain lupus' SubClassOf 'systemic autoimmune disease' 'Chilblain lupus' SubClassOf 'Moyamoya syndrome' 'Chilblain lupus' SubClassOf 'type 1 interferonopathy' 'Chilblain lupus' SubClassOf 'genetic skin disease' 'Chilblain lupus' SubClassOf 'autoimmune disease of the nervous system' http://purl.obolibrary.org/obo/MONDO_0018898 primary cutaneous lymphoma 'primary cutaneous lymphoma' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0018896 thrombotic thrombocytopenic purpura 'thrombotic thrombocytopenic purpura' SubClassOf 'inherited bleeding disorder, platelet-type' http://www.orpha.net/ORDO/Orphanet_28378 Tyrosinemia type 2 'Tyrosinemia type 2' SubClassOf 'Rare genetic neurological disorder' http://www.ebi.ac.uk/efo/EFO_0005761 lupus nephritis 'lupus nephritis' SubClassOf 'renal system measurement' http://www.orpha.net/ORDO/Orphanet_77300 Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities 'Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_90340 Blau syndrome 'Blau syndrome' SubClassOf 'Rare genetic systemic or rheumatologic disease' http://www.orpha.net/ORDO/Orphanet_90350 Autosomal recessive cutis laxa type 2 'Autosomal recessive cutis laxa type 2' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_90354 Brittle cornea syndrome 'Brittle cornea syndrome' SubClassOf 'hereditary connective tissue disorder' 'Brittle cornea syndrome' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_90301 Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement 'Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement' SubClassOf 'familial acanthosis nigricans' http://www.ebi.ac.uk/efo/EFO_0009610 cervical spondylosis 'cervical spondylosis' SubClassOf 'inherited genetic disease' 'cervical spondylosis' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0009644 neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 'neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy' SubClassOf 'inherited genetic disease' http://www.ebi.ac.uk/efo/EFO_0009645 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 'neurodevelopmental disorder with or without anomalies of the brain, eye, or heart' SubClassOf 'inherited genetic disease' http://www.ebi.ac.uk/efo/EFO_0009650 hyperproinsulinemia 'hyperproinsulinemia' SubClassOf 'inherited genetic disease' http://www.orpha.net/ORDO/Orphanet_3041 Intellectual disability - balding - patella luxation - acromicria 'Intellectual disability - balding - patella luxation - acromicria' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_99858 Idiopathic syringomyelia 'Idiopathic syringomyelia' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_87884 Non-syndromic genetic deafness 'Non-syndromic genetic deafness' SubClassOf 'inherited auditory system disease' http://www.orpha.net/ORDO/Orphanet_73230 Ossification anomalies - psychomotor development delay 'Ossification anomalies - psychomotor development delay' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_3021 RAPADILINO syndrome 'RAPADILINO syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_3102 Richieri Costa-Pereira syndrome 'Richieri Costa-Pereira syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_3101 Richieri Costa-da Silva syndrome 'Richieri Costa-da Silva syndrome' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_3103 Roberts syndrome 'Roberts syndrome' SubClassOf 'Rare genetic neurological disorder' 'Roberts syndrome' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Roberts syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://purl.obolibrary.org/obo/MONDO_0024656 colorectal lymphoma 'colorectal lymphoma' SubClassOf 'familial colorectal cancer' http://purl.obolibrary.org/obo/MONDO_0009022 corpus callosum, agenesis of 'corpus callosum, agenesis of' SubClassOf 'congenital nervous system disorder' 'corpus callosum, agenesis of' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_319465 Inherited acute myeloid leukemia 'Inherited acute myeloid leukemia' SubClassOf 'hereditary connective tissue disorder' 'Inherited acute myeloid leukemia' SubClassOf 'bilineal acute myeloid leukemia' 'Inherited acute myeloid leukemia' SubClassOf 'acute disease' 'Inherited acute myeloid leukemia' SubClassOf 'Acute Leukemia' 'Inherited acute myeloid leukemia' SubClassOf 'myeloid leukemia' http://www.orpha.net/ORDO/Orphanet_99718 Leber plus disease 'Leber plus disease' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_99739 Rare familial disorder with hypertrophic cardiomyopathy 'Rare familial disorder with hypertrophic cardiomyopathy' SubClassOf 'familial hypertrophic cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_99797 Anodontia 'Anodontia' SubClassOf 'tooth disease' 'Anodontia' SubClassOf 'inherited genetic disease' http://www.orpha.net/ORDO/Orphanet_99792 Dentin dysplasia - sclerotic bones 'Dentin dysplasia - sclerotic bones' SubClassOf 'inherited genetic disease' http://www.orpha.net/ORDO/Orphanet_99791 Dentin dysplasia type II 'Dentin dysplasia type II' SubClassOf 'inherited genetic disease' http://www.orpha.net/ORDO/Orphanet_85186 Endosteal sclerosis - cerebellar hypoplasia 'Endosteal sclerosis - cerebellar hypoplasia' SubClassOf 'hereditary connective tissue disorder' http://purl.obolibrary.org/obo/MONDO_0012511 preterm premature rupture of the membranes 'preterm premature rupture of the membranes' SubClassOf 'inherited genetic disease' 'preterm premature rupture of the membranes' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_85165 Severe achondroplasia - developmental delay - acanthosis nigricans 'Severe achondroplasia - developmental delay - acanthosis nigricans' SubClassOf 'hereditary connective tissue disorder' 'Severe achondroplasia - developmental delay - acanthosis nigricans' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_99789 Dentin dysplasia type I 'Dentin dysplasia type I' SubClassOf 'inherited genetic disease' http://www.ebi.ac.uk/efo/EFO_1002001 core binding factor acute myeloid leukemia 'core binding factor acute myeloid leukemia' SubClassOf 'acute leukemia of ambiguous lineage' 'core binding factor acute myeloid leukemia' SubClassOf 'Inherited acute myeloid leukemia' 'core binding factor acute myeloid leukemia' SubClassOf 'bilineal acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0012561 congenital anomalies of kidney and urinary tract 1, susceptibility to 'congenital anomalies of kidney and urinary tract 1, susceptibility to' SubClassOf 'inherited genetic disease' http://www.orpha.net/ORDO/Orphanet_85197 Genochondromatosis type 1 'Genochondromatosis type 1' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_319195 Chondroectodermal dysplasia with night blindness 'Chondroectodermal dysplasia with night blindness' SubClassOf 'Rare genetic neurological disorder' 'Chondroectodermal dysplasia with night blindness' SubClassOf 'hereditary connective tissue disorder' http://www.ebi.ac.uk/efo/EFO_0007217 congenital nystagmus 'congenital nystagmus' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_210115 Sterile multifocal osteomyelitis with periostitis and pustulosis 'Sterile multifocal osteomyelitis with periostitis and pustulosis' SubClassOf 'Rare genetic systemic or rheumatologic disease' http://www.orpha.net/ORDO/Orphanet_48431 Congenital cataracts - facial dysmorphism - neuropathy 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf 'Rare genetic systemic or rheumatologic disease' http://www.orpha.net/ORDO/Orphanet_3289 Taurodontism 'Taurodontism' SubClassOf 'inherited genetic disease' http://www.ebi.ac.uk/efo/EFO_0007275 focal epithelial hyperplasia 'focal epithelial hyperplasia' SubClassOf 'inherited genetic disease' 'focal epithelial hyperplasia' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_3253 Zlotogora-Ogur syndrome 'Zlotogora-Ogur syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_85453 X-linked reticulate pigmentary disorder with systemic manifestations 'X-linked reticulate pigmentary disorder with systemic manifestations' SubClassOf 'Rare genetic neurological disorder' 'X-linked reticulate pigmentary disorder with systemic manifestations' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_85443 AL amyloidosis 'AL amyloidosis' SubClassOf 'Familial restrictive cardiomyopathy' 'AL amyloidosis' SubClassOf 'Genetic peripheral neuropathy' 'AL amyloidosis' SubClassOf 'hereditary amyloidosis' http://www.orpha.net/ORDO/Orphanet_3329 Tibial aplasia - ectrodactyly 'Tibial aplasia - ectrodactyly' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_3338 Toriello-Carey syndrome 'Toriello-Carey syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_3352 Tricho-dento-osseous syndrome 'Tricho-dento-osseous syndrome' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_3316 Thomas syndrome 'Thomas syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_199276 Familial multiple lipomatosis 'Familial multiple lipomatosis' SubClassOf 'genetic skin disease' 'Familial multiple lipomatosis' SubClassOf 'hereditary connective tissue disorder' 'Familial multiple lipomatosis' SubClassOf 'Genetic soft tissue tumor' http://purl.obolibrary.org/obo/MONDO_0024255 genetic skin disease 'genetic skin disease' SubClassOf 'inherited genetic disease' 'genetic skin disease' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_371861 Genetic hyperaldosteronism 'Genetic hyperaldosteronism' SubClassOf 'rare non surgically correctable form of primary aldosteronism' http://www.orpha.net/ORDO/Orphanet_3194 Stern-Lubinsky-Durrie syndrome 'Stern-Lubinsky-Durrie syndrome' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_3156 Senior-Loken syndrome 'Senior-Loken syndrome' SubClassOf 'ciliopathy' 'Senior-Loken syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0022409 'Senior-Loken syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0022410 http://www.orpha.net/ORDO/Orphanet_3201 Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence 'Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_3205 Sturge-Weber syndrome 'Sturge-Weber syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_3214 Deaf blind hypopigmentation syndrome, Yemenite type 'Deaf blind hypopigmentation syndrome, Yemenite type' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_97369 Renal tubular dysgenesis of genetic origin 'Renal tubular dysgenesis of genetic origin' SubClassOf 'inherited genetic disease' 'Renal tubular dysgenesis of genetic origin' SubClassOf 'Genetic non-syndromic renal or urinary tract malformation' http://www.orpha.net/ORDO/Orphanet_97360 Robinow syndrome 'Robinow syndrome' SubClassOf 'hereditary connective tissue disorder' http://purl.obolibrary.org/obo/MONDO_0014963 Shashi-Pena syndrome 'Shashi-Pena syndrome' SubClassOf 'inherited genetic disease' 'Shashi-Pena syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0024351 familial pityriasis rubra pilaris 'familial pityriasis rubra pilaris' SubClassOf 'Genetic erythrokeratoderma' 'familial pityriasis rubra pilaris' SubClassOf 'erythrokeratoderma' 'familial pityriasis rubra pilaris' SubClassOf 'exanthem' http://www.orpha.net/ORDO/Orphanet_63440 Isolated oxycephaly 'Isolated oxycephaly' SubClassOf 'Rare genetic neurological disorder' http://purl.obolibrary.org/obo/MONDO_0014801 even-plus syndrome 'even-plus syndrome' SubClassOf 'hereditary connective tissue disorder' http://purl.obolibrary.org/obo/MONDO_0014888 MIRAGE syndrome 'MIRAGE syndrome' SubClassOf 'inherited genetic disease' 'MIRAGE syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014893 Okur-Chung neurodevelopmental syndrome 'Okur-Chung neurodevelopmental syndrome' SubClassOf 'inherited genetic disease' 'Okur-Chung neurodevelopmental syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0000275 monogenic disease 'monogenic disease' SubClassOf 'inherited genetic disease' 'monogenic disease' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0000050 isolated congenital growth hormone deficiency 'isolated congenital growth hormone deficiency' SubClassOf 'Combined pituitary hormone deficiencies, genetic forms' http://www.orpha.net/ORDO/Orphanet_75325 Osteosclerosis - ichthyosis - premature ovarian failure 'Osteosclerosis - ichthyosis - premature ovarian failure' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_329324 Inverse Klippel-Trénaunay syndrome 'Inverse Klippel-Trénaunay syndrome' SubClassOf 'rare genetic vascular tumor' http://purl.obolibrary.org/obo/MONDO_0000111 camptodactyly syndrome, Guadalajara 'camptodactyly syndrome, Guadalajara' SubClassOf 'inherited genetic disease' 'camptodactyly syndrome, Guadalajara' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0000115 Chiari malformation 'Chiari malformation' SubClassOf 'inherited genetic disease' 'Chiari malformation' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0000114 cerebelloparenchymal disorder 'cerebelloparenchymal disorder' SubClassOf 'inherited genetic disease' 'cerebelloparenchymal disorder' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012104 acquired partial lipodystrophy 'acquired partial lipodystrophy' SubClassOf 'Familial partial lipodystrophy' http://www.orpha.net/ORDO/Orphanet_199337 Pancreatic insufficiency - anemia - hyperostosis 'Pancreatic insufficiency - anemia - hyperostosis' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_163668 Spondyloepiphyseal dysplasia, MacDermot type 'Spondyloepiphyseal dysplasia, MacDermot type' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_163634 Maffucci syndrome 'Maffucci syndrome' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_163665 Spondyloepiphyseal dysplasia tarda, Kohn type 'Spondyloepiphyseal dysplasia tarda, Kohn type' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_163649 Spondyloepiphyseal dysplasia, Nishimura type 'Spondyloepiphyseal dysplasia, Nishimura type' SubClassOf 'genetic otorhinolaryngologic disease' 'Spondyloepiphyseal dysplasia, Nishimura type' SubClassOf 'hereditary connective tissue disorder' http://purl.obolibrary.org/obo/MONDO_0014608 mandibulofacial dysostosis with alopecia 'mandibulofacial dysostosis with alopecia' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_330041 Autosomal dominant methemoglobinemia 'Autosomal dominant methemoglobinemia' SubClassOf 'methemoglobinemia' http://www.ebi.ac.uk/efo/EFO_0007614 asthma exacerbation measurement 'asthma exacerbation measurement' SubClassOf 'measurement' 'asthma exacerbation measurement' SubClassOf http://www.ebi.ac.uk/efo/EFO_0010049 http://purl.obolibrary.org/obo/MONDO_0000009 inherited bleeding disorder, platelet-type 'inherited bleeding disorder, platelet-type' SubClassOf 'inherited genetic disease' 'inherited bleeding disorder, platelet-type' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0000032 febrile seizures, familial 'febrile seizures, familial' SubClassOf 'inherited genetic disease' 'febrile seizures, familial' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0002468 hyperimmunoglobulin syndrome 'hyperimmunoglobulin syndrome' SubClassOf 'inherited genetic disease' 'hyperimmunoglobulin syndrome' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_75508 Angioosteohypotrophic syndrome 'Angioosteohypotrophic syndrome' SubClassOf 'Genetic vascular anomaly' http://www.orpha.net/ORDO/Orphanet_100032 Hypocalcified amelogenesis imperfecta 'Hypocalcified amelogenesis imperfecta' SubClassOf 'inherited genetic disease' http://www.orpha.net/ORDO/Orphanet_100034 Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism 'Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism' SubClassOf 'inherited genetic disease' http://purl.obolibrary.org/obo/MONDO_0014527 progeroid features-hepatocellular carcinoma predisposition syndrome 'progeroid features-hepatocellular carcinoma predisposition syndrome' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_95429 Angioma serpiginosum 'Angioma serpiginosum' SubClassOf 'genetic skin disease' 'Angioma serpiginosum' SubClassOf 'rare genetic vascular tumor' http://purl.obolibrary.org/obo/MONDO_0020226 chromosomal anomaly with cataract 'chromosomal anomaly with cataract' SubClassOf 'Rare genetic neurological disorder' http://purl.obolibrary.org/obo/MONDO_0044203 foveal hypoplasia 'foveal hypoplasia' SubClassOf 'inherited genetic disease' 'foveal hypoplasia' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_2631 Mesomelic dwarfism - cleft palate - camptodactyly 'Mesomelic dwarfism - cleft palate - camptodactyly' SubClassOf 'genetic otorhinolaryngologic disease' 'Mesomelic dwarfism - cleft palate - camptodactyly' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_2650 Dwarfism - intellectual disability - eye abnormality 'Dwarfism - intellectual disability - eye abnormality' SubClassOf 'inherited genetic disease' 'Dwarfism - intellectual disability - eye abnormality' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_2658 Lenz-Majewski hyperostotic dwarfism 'Lenz-Majewski hyperostotic dwarfism' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_2649 Short stature - intellectual disability - eye anomalies - cleft lip/palate 'Short stature - intellectual disability - eye anomalies - cleft lip/palate' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_227535 Hereditary breast cancer 'Hereditary breast cancer' SubClassOf 'inherited genetic disease' 'Hereditary breast cancer' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_2614 Nail-patella syndrome 'Nail-patella syndrome' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_2616 3M syndrome '3M syndrome' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_156607 Genetic biliary tract disease 'Genetic biliary tract disease' SubClassOf 'inherited genetic disease' http://www.orpha.net/ORDO/Orphanet_156604 Genetic parenchymatous liver disease 'Genetic parenchymatous liver disease' SubClassOf 'inherited genetic disease' http://www.orpha.net/ORDO/Orphanet_276432 Premature aging appearance-developmental delay-cardiac arrhythmia syndrome 'Premature aging appearance-developmental delay-cardiac arrhythmia syndrome' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_2558 Mikati-Najjar-Sahli syndrome 'Mikati-Najjar-Sahli syndrome' SubClassOf 'disease' 'Mikati-Najjar-Sahli syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0019142 inherited porphyria 'inherited porphyria' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_2574 Moynahan syndrome 'Moynahan syndrome' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_2588 Myhre syndrome 'Myhre syndrome' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_2511 Microbrachycephaly - ptosis - cleft lip 'Microbrachycephaly - ptosis - cleft lip' SubClassOf 'genetic otorhinolaryngologic disease' http://purl.obolibrary.org/obo/MONDO_0019193 acquired generalized lipodystrophy 'acquired generalized lipodystrophy' SubClassOf 'generalized lipodystrophy' 'acquired generalized lipodystrophy' SubClassOf 'congenital generalized lipodystrophy' http://www.orpha.net/ORDO/Orphanet_2521 Microcephaly - cleft palate 'Microcephaly - cleft palate' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_156629 Genetic hypertension 'Genetic hypertension' SubClassOf 'inherited genetic disease' http://www.orpha.net/ORDO/Orphanet_168615 Hereditary persistence of alpha-fetoprotein 'Hereditary persistence of alpha-fetoprotein' SubClassOf 'genetic disorder' 'Hereditary persistence of alpha-fetoprotein' SubClassOf 'inherited genetic disease' 'Hereditary persistence of alpha-fetoprotein' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_168612 Congenital deficiency in alpha-fetoprotein 'Congenital deficiency in alpha-fetoprotein' SubClassOf 'genetic disorder' 'Congenital deficiency in alpha-fetoprotein' SubClassOf 'inherited genetic disease' 'Congenital deficiency in alpha-fetoprotein' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_168606 Seborrhea-like dermatitis with psoriasiform elements 'Seborrhea-like dermatitis with psoriasiform elements' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_2502 Metaphyseal dysostosis - intellectual disability - conductive deafness 'Metaphyseal dysostosis - intellectual disability - conductive deafness' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_83617 Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis 'Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_2804 W syndrome 'W syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://www.ebi.ac.uk/efo/EFO_1001361 localised scleroderma 'localised scleroderma' SubClassOf 'Genetic peripheral neuropathy' http://www.ebi.ac.uk/efo/EFO_1001382 Obesity Hypoventilation Syndrome 'Obesity Hypoventilation Syndrome' SubClassOf 'inherited genetic disease' 'Obesity Hypoventilation Syndrome' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_250165 Genetic polycythemia 'Genetic polycythemia' SubClassOf 'inherited genetic disease' http://purl.obolibrary.org/obo/MONDO_0009633 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma 'microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma' SubClassOf 'inherited genetic disease' 'microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_240760 Nijmegen breakage syndrome-like disorder 'Nijmegen breakage syndrome-like disorder' SubClassOf 'Inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0019050 inherited hemoglobinopathy 'inherited hemoglobinopathy' SubClassOf 'inherited genetic disease' 'inherited hemoglobinopathy' SubClassOf 'erythrocyte disease' 'inherited hemoglobinopathy' SubClassOf 'Rare constitutional anemia' http://purl.obolibrary.org/obo/MONDO_0020078 acute myeloid leukemia with recurrent genetic anomaly 'acute myeloid leukemia with recurrent genetic anomaly' SubClassOf 'bilineal acute myeloid leukemia' 'acute myeloid leukemia with recurrent genetic anomaly' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia with recurrent genetic anomaly' SubClassOf 'acute leukemia of ambiguous lineage' http://www.orpha.net/ORDO/Orphanet_2897 Pityriasis rubra pilaris 'Pityriasis rubra pilaris' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_178338 UV-sensitive syndrome 'UV-sensitive syndrome' SubClassOf 'genetic skin disease' 'UV-sensitive syndrome' SubClassOf 'Inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_2825 PARC syndrome 'PARC syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_2841 Familial benign chronic pemphigus 'Familial benign chronic pemphigus' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_2837 Pellagra-like skin rash - neurological manifestations 'Pellagra-like skin rash - neurological manifestations' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_2854 Fuhrmann syndrome 'Fuhrmann syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_168984 CLAPO syndrome 'CLAPO syndrome' SubClassOf 'Genetic vascular anomaly' http://www.orpha.net/ORDO/Orphanet_34587 Glycogen storage disease due to LAMP-2 deficiency 'Glycogen storage disease due to LAMP-2 deficiency' SubClassOf 'familial hypertrophic cardiomyopathy' http://www.ebi.ac.uk/efo/EFO_1001450 Wolff-Parkinson-White Syndrome 'Wolff-Parkinson-White Syndrome' SubClassOf 'inherited genetic disease' 'Wolff-Parkinson-White Syndrome' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_1001467 Hypereosinophilic syndrome 'Hypereosinophilic syndrome' SubClassOf 'Familial restrictive cardiomyopathy' http://www.ebi.ac.uk/efo/EFO_1001481 enterocolitis 'enterocolitis' SubClassOf 'inherited genetic disease' 'enterocolitis' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_1001485 acromegaly 'acromegaly' SubClassOf 'female reproductive system neoplasm' 'acromegaly' SubClassOf 'familial isolated pituitary adenoma' 'acromegaly' SubClassOf 'Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' 'acromegaly' SubClassOf 'Genetic gynecological tumor' http://www.orpha.net/ORDO/Orphanet_264675 Congenital pulmonary alveolar proteinosis 'Congenital pulmonary alveolar proteinosis' SubClassOf 'inherited genetic disease' 'Congenital pulmonary alveolar proteinosis' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_2796 Pachydermoperiostosis 'Pachydermoperiostosis' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_166265 Dentinogenesis imperfecta type 3 'Dentinogenesis imperfecta type 3' SubClassOf 'inherited genetic disease' http://www.orpha.net/ORDO/Orphanet_166260 Dentinogenesis imperfecta type 2 'Dentinogenesis imperfecta type 2' SubClassOf 'inherited genetic disease' http://www.orpha.net/ORDO/Orphanet_2750 Orofaciodigital syndrome type 1 'Orofaciodigital syndrome type 1' SubClassOf 'ciliopathy' 'Orofaciodigital syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0022409 http://www.orpha.net/ORDO/Orphanet_46627 Char syndrome 'Char syndrome' SubClassOf 'Genetic vascular anomaly' http://www.orpha.net/ORDO/Orphanet_2762 Progressive osseous heteroplasia 'Progressive osseous heteroplasia' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_2770 Nasu-Hakola disease 'Nasu-Hakola disease' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_2773 Osteogenesis imperfecta - retinopathy - seizures - intellectual disability 'Osteogenesis imperfecta - retinopathy - seizures - intellectual disability' SubClassOf 'hereditary optic atrophy' http://www.orpha.net/ORDO/Orphanet_2789 Lateral meningocele syndrome 'Lateral meningocele syndrome' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_2714 Oculo-palato-cerebral syndrome 'Oculo-palato-cerebral syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_2710 Oculodentodigital dysplasia 'Oculodentodigital dysplasia' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_2723 Odontotrichomelic syndrome 'Odontotrichomelic syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_2736 Lethal omphalocele-cleft palate syndrome 'Lethal omphalocele-cleft palate syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://www.ebi.ac.uk/efo/EFO_1001145 Raynaud disease 'Raynaud disease' SubClassOf 'inherited genetic disease' 'Raynaud disease' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_2167 Holzgreve-Wagner-Rehder syndrome 'Holzgreve-Wagner-Rehder syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_2170 Methylcobalamin deficiency type cblG 'Methylcobalamin deficiency type cblG' SubClassOf 'Rare genetic coagulation disorder' http://www.orpha.net/ORDO/Orphanet_2189 Hydrolethalus 'Hydrolethalus' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_2233 Hypogonadism - mitral valve prolapse - intellectual disability 'Hypogonadism - mitral valve prolapse - intellectual disability' SubClassOf 'disease' 'Hypogonadism - mitral valve prolapse - intellectual disability' SubClassOf 'has modifier' some 'rare' 'Hypogonadism - mitral valve prolapse - intellectual disability' SubClassOf 'Rare male infertility due to testicular endocrine disorder' http://www.orpha.net/ORDO/Orphanet_2232 Primary hypergonadotropic hypogonadism - partial alopecia 'Primary hypergonadotropic hypogonadism - partial alopecia' SubClassOf 'disease' 'Primary hypergonadotropic hypogonadism - partial alopecia' SubClassOf 'has modifier' some 'rare' 'Primary hypergonadotropic hypogonadism - partial alopecia' SubClassOf 'Rare male infertility due to testicular endocrine disorder' http://www.orpha.net/ORDO/Orphanet_2238 Familial isolated hypoparathyroidism 'Familial isolated hypoparathyroidism' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_2268 ICF syndrome 'ICF syndrome' SubClassOf 'Inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_2213 Hypertelorism-microtia-facial clefting syndrome 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_2209 Maternal hyperphenylalaninemia 'Maternal hyperphenylalaninemia' SubClassOf 'genetic otorhinolaryngologic disease' http://www.ebi.ac.uk/efo/EFO_1001036 Meckel's diverticulum 'Meckel's diverticulum' SubClassOf 'inherited genetic disease' 'Meckel's diverticulum' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_1001210 tethered spinal cord syndrome 'tethered spinal cord syndrome' SubClassOf 'Rare genetic neurological disorder' http://www.ebi.ac.uk/efo/EFO_1001227 ureterocele 'ureterocele' SubClassOf 'inherited genetic disease' 'ureterocele' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_1001257 acute erythroblastic leukemia 'acute erythroblastic leukemia' SubClassOf 'Inherited acute myeloid leukemia' 'acute erythroblastic leukemia' SubClassOf 'acute leukemia of ambiguous lineage' 'acute erythroblastic leukemia' SubClassOf 'bilineal acute myeloid leukemia' http://www.ebi.ac.uk/efo/EFO_1001267 Aortic Coarctation 'Aortic Coarctation' SubClassOf 'Genetic vascular anomaly' http://www.orpha.net/ORDO/Orphanet_2078 Geroderma osteodysplastica 'Geroderma osteodysplastica' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_2077 German syndrome 'German syndrome' SubClassOf 'Milroy disease' http://www.orpha.net/ORDO/Orphanet_2075 Genito-palato-cardiac syndrome 'Genito-palato-cardiac syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_97556 Congenital and infantile nephrotic syndrome 'Congenital and infantile nephrotic syndrome' SubClassOf 'familial nephrotic syndrome' http://www.orpha.net/ORDO/Orphanet_2092 Focal dermal hypoplasia 'Focal dermal hypoplasia' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_2047 Flynn-Aird syndrome 'Flynn-Aird syndrome' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_2050 Cole-Carpenter syndrome 'Cole-Carpenter syndrome' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_2059 Fryns syndrome 'Fryns syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_2117 Hartsfield-Bixler-Demyer syndrome 'Hartsfield-Bixler-Demyer syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_2116 Hartnup disease 'Hartnup disease' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_2133 Hemoglobin E disease 'Hemoglobin E disease' SubClassOf 'Hemoglobinopathy' http://www.orpha.net/ORDO/Orphanet_2132 Hemoglobin C disease 'Hemoglobin C disease' SubClassOf 'Hemoglobinopathy' http://purl.obolibrary.org/obo/MONDO_0010308 thrombocytopenia, X-linked, with or without dyserythropoietic anemia 'thrombocytopenia, X-linked, with or without dyserythropoietic anemia' SubClassOf 'inherited genetic disease' 'thrombocytopenia, X-linked, with or without dyserythropoietic anemia' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_2108 Hallermann-Streiff syndrome 'Hallermann-Streiff syndrome' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Hallermann-Streiff syndrome' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_184 Cherubism 'Cherubism' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_199 Cornelia de Lange syndrome 'Cornelia de Lange syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_195 Cat-eye syndrome 'Cat-eye syndrome' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_191 Cockayne syndrome 'Cockayne syndrome' SubClassOf 'genetic skin disease' 'Cockayne syndrome' SubClassOf 'Inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_107 BOR syndrome 'BOR syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_116 Beckwith-Wiedemann syndrome 'Beckwith-Wiedemann syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_110 Bardet-Biedl syndrome 'Bardet-Biedl syndrome' SubClassOf 'ciliopathy' 'Bardet-Biedl syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0022410 'Bardet-Biedl syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0022409 http://www.orpha.net/ORDO/Orphanet_125 Bloom syndrome 'Bloom syndrome' SubClassOf 'Rare genetic neurological disorder' 'Bloom syndrome' SubClassOf 'Inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_124 Blackfan-Diamond anemia 'Blackfan-Diamond anemia' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_138 CHARGE syndrome 'CHARGE syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_148 Multiple carboxylase deficiency 'Multiple carboxylase deficiency' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_140 Campomelic dysplasia 'Campomelic dysplasia' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_177 Rhizomelic chondrodysplasia punctata 'Rhizomelic chondrodysplasia punctata' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Rhizomelic chondrodysplasia punctata' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_175 Cartilage-hair hypoplasia 'Cartilage-hair hypoplasia' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_71270 Auriculoocular anomalies - cleft lip 'Auriculoocular anomalies - cleft lip' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_2470 Matthew-Wood syndrome 'Matthew-Wood syndrome' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_2484 Osteodysplasty, Melnick-Needles type 'Osteodysplasty, Melnick-Needles type' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_2496 Mesomelia-synostoses syndrome 'Mesomelia-synostoses syndrome' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_2432 Macrosomia - microphthalmia - cleft palate 'Macrosomia - microphthalmia - cleft palate' SubClassOf 'genetic otorhinolaryngologic disease' http://purl.obolibrary.org/obo/MONDO_0009229 hyaline fibromatosis syndrome 'hyaline fibromatosis syndrome' SubClassOf 'hereditary connective tissue disorder' http://purl.obolibrary.org/obo/MONDO_0010217 de Sanctis-Cacchione syndrome 'de Sanctis-Cacchione syndrome' SubClassOf 'inherited genetic disease' 'de Sanctis-Cacchione syndrome' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_2457 Mandibuloacral dysplasia 'Mandibuloacral dysplasia' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_2461 Marden-Walker syndrome 'Marden-Walker syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_2460 Van den Ende-Gupta syndrome 'Van den Ende-Gupta syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_207 Crouzon disease 'Crouzon disease' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_2414 Congenital pulmonary lymphangiectasia 'Congenital pulmonary lymphangiectasia' SubClassOf 'Milroy disease' http://www.orpha.net/ORDO/Orphanet_2410 Hypergonadotropic hypogonadism - cataract syndrome 'Hypergonadotropic hypogonadism - cataract syndrome' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_2407 LOC syndrome 'LOC syndrome' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_140162 Inherited cancer-predisposing syndrome 'Inherited cancer-predisposing syndrome' SubClassOf 'inherited genetic disease' 'Inherited cancer-predisposing syndrome' SubClassOf 'genetic disorder' 'Inherited cancer-predisposing syndrome' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_357158 Mandibulofacial dysostosis - macroblepharon - macrostomia 'Mandibulofacial dysostosis - macroblepharon - macrostomia' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_308166 Erythrokeratoderma variabilis progressiva 'Erythrokeratoderma variabilis progressiva' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_139009 Developmental anomaly of metabolic origin 'Developmental anomaly of metabolic origin' SubClassOf 'metabolic disease' 'Developmental anomaly of metabolic origin' SubClassOf 'nutritional or metabolic disease' 'Developmental anomaly of metabolic origin' SubClassOf 'Inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_2287 Fused mandibular incisors 'Fused mandibular incisors' SubClassOf 'inherited genetic disease' http://www.orpha.net/ORDO/Orphanet_2297 Insulin-resistance syndrome type A 'Insulin-resistance syndrome type A' SubClassOf 'Inborn errors of metabolism' http://www.ebi.ac.uk/efo/EFO_0008080 cerebrospinal fluid volume measurement 'cerebrospinal fluid volume measurement' SubClassOf 'cerebrospinal fluid biomarker measurement' 'cerebrospinal fluid volume measurement' SubClassOf 'is_about' some 'cerebrospinal fluid' 'cerebrospinal fluid volume measurement' SubClassOf 'is_about' some ('cerebrospinal fluid' and ('has_role' some 'biomarker')) http://www.orpha.net/ORDO/Orphanet_2380 Legg-Calvé-Perthes disease 'Legg-Calvé-Perthes disease' SubClassOf 'Osteochondrosis of genetic origin' http://www.orpha.net/ORDO/Orphanet_2388 Choreoacanthocytosis 'Choreoacanthocytosis' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_2314 Autosomal dominant hyper-IgE syndrome 'Autosomal dominant hyper-IgE syndrome' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_2328 Kapur-Toriello syndrome 'Kapur-Toriello syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_2324 Kaler-Garrity-Stern syndrome 'Kaler-Garrity-Stern syndrome' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_2322 Kabuki syndrome 'Kabuki syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_2319 Juberg-Hayward syndrome 'Juberg-Hayward syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_2339 Keratosis follicularis - dwarfism - cerebral atrophy 'Keratosis follicularis - dwarfism - cerebral atrophy' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_2334 Autosomal dominant keratitis 'Autosomal dominant keratitis' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_2333 Kenny-Caffey syndrome 'Kenny-Caffey syndrome' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_2340 Keratosis follicularis spinulosa decalvans 'Keratosis follicularis spinulosa decalvans' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_2346 Angioosteohypertrophic syndrome 'Angioosteohypertrophic syndrome' SubClassOf 'hereditary connective tissue disorder' http://purl.obolibrary.org/obo/MONDO_0010127 thymoma, familial 'thymoma, familial' SubClassOf 'inherited genetic disease' 'thymoma, familial' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0010122 congenital thrombotic thrombocytopenic purpura 'congenital thrombotic thrombocytopenic purpura' SubClassOf 'thrombocytopenic purpura' 'congenital thrombotic thrombocytopenic purpura' SubClassOf 'thrombophilia' 'congenital thrombotic thrombocytopenic purpura' SubClassOf 'thrombotic disorder due to a platelet anomaly' http://purl.obolibrary.org/obo/MONDO_0009179 recessive dystrophic epidermolysis bullosa 'recessive dystrophic epidermolysis bullosa' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_34217 Naxos disease 'Naxos disease' SubClassOf 'familial cardiomyopathy' 'Naxos disease' SubClassOf 'cardiocutaneous syndrome' 'Naxos disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100079 http://www.orpha.net/ORDO/Orphanet_183490 Genetic photodermatosis 'Genetic photodermatosis' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_183494 Genetic immune deficiency with skin involvement 'Genetic immune deficiency with skin involvement' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_359 Hereditary glaucoma 'Hereditary glaucoma' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_355 Gaucher disease 'Gaucher disease' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_352 Galactosemia 'Galactosemia' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Galactosemia' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_366 Glycogen storage disease due to glycogen debranching enzyme deficiency 'Glycogen storage disease due to glycogen debranching enzyme deficiency' SubClassOf 'familial hypertrophic cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_379 Chronic granulomatous disease 'Chronic granulomatous disease' SubClassOf 'Rare genetic systemic or rheumatologic disease' http://www.orpha.net/ORDO/Orphanet_376 Gordon syndrome 'Gordon syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_374 Goldenhar syndrome 'Goldenhar syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_373 Simpson-Golabi-Behmel syndrome 'Simpson-Golabi-Behmel syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_183463 Genetic pigmentation anomaly of the skin 'Genetic pigmentation anomaly of the skin' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_183524 Rare genetic bone disease 'Rare genetic bone disease' SubClassOf 'genetic disorder' 'Rare genetic bone disease' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_183527 Genetic bone tumor 'Genetic bone tumor' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_183533 Genetic multiple congenital anomalies/dysmorphic syndrome 'Genetic multiple congenital anomalies/dysmorphic syndrome' SubClassOf 'inherited genetic disease' http://www.orpha.net/ORDO/Orphanet_404 Familial hyperaldosteronism type II 'Familial hyperaldosteronism type II' SubClassOf 'Genetic hyperaldosteronism' http://www.orpha.net/ORDO/Orphanet_403 Familial hyperaldosteronism type I 'Familial hyperaldosteronism type I' SubClassOf 'Genetic hyperaldosteronism' http://www.orpha.net/ORDO/Orphanet_405 Familial hypocalciuric hypercalcemia 'Familial hypocalciuric hypercalcemia' SubClassOf 'hereditary connective tissue disorder' 'Familial hypocalciuric hypercalcemia' SubClassOf 'Inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_422 Idiopathic and/or familial pulmonary arterial hypertension 'Idiopathic and/or familial pulmonary arterial hypertension' SubClassOf 'Genetic hypertension' http://www.orpha.net/ORDO/Orphanet_417 Neonatal severe primary hyperparathyroidism 'Neonatal severe primary hyperparathyroidism' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_436 Hypophosphatasia 'Hypophosphatasia' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_93579 Atypical hemolytic-uremic syndrome with H factor anomaly 'Atypical hemolytic-uremic syndrome with H factor anomaly' SubClassOf 'Inborn errors of metabolism' 'Atypical hemolytic-uremic syndrome with H factor anomaly' SubClassOf 'Rare genetic coagulation disorder' http://www.orpha.net/ORDO/Orphanet_93583 Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency 'Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency' SubClassOf 'Rare genetic coagulation disorder' http://www.orpha.net/ORDO/Orphanet_93581 Atypical hemolytic-uremic syndrome with anti-factor H antibodies 'Atypical hemolytic-uremic syndrome with anti-factor H antibodies' SubClassOf 'Inborn errors of metabolism' 'Atypical hemolytic-uremic syndrome with anti-factor H antibodies' SubClassOf 'Rare genetic coagulation disorder' http://www.orpha.net/ORDO/Orphanet_93587 Familial cystic renal disease 'Familial cystic renal disease' SubClassOf 'inherited genetic disease' http://www.orpha.net/ORDO/Orphanet_93592 Juvenile nephronophthisis 'Juvenile nephronophthisis' SubClassOf 'ciliopathy' 'Juvenile nephronophthisis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0022409 http://www.orpha.net/ORDO/Orphanet_247 Arrhythmogenic right ventricular dysplasia 'Arrhythmogenic right ventricular dysplasia' SubClassOf 'familial cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_246 Postaxial acrofacial dysostosis 'Postaxial acrofacial dysostosis' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_245 Nager syndrome 'Nager syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_275 Severe combined immunodeficiency due to DCLRE1C deficiency 'Severe combined immunodeficiency due to DCLRE1C deficiency' SubClassOf 'Inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_273 Steinert myotonic dystrophy 'Steinert myotonic dystrophy' SubClassOf 'Rare genetic systemic or rheumatologic disease' http://www.orpha.net/ORDO/Orphanet_296 Enchondromatosis 'Enchondromatosis' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_315 Erythrokeratoderma "en cocardes" 'Erythrokeratoderma "en cocardes"' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_324 Fabry disease 'Fabry disease' SubClassOf 'Rare genetic systemic or rheumatologic disease' http://www.orpha.net/ORDO/Orphanet_337 Fibrodysplasia ossificans progressiva 'Fibrodysplasia ossificans progressiva' SubClassOf 'hereditary connective tissue disorder' http://purl.obolibrary.org/obo/MONDO_0007834 islet cell adenomatosis 'islet cell adenomatosis' SubClassOf 'inherited genetic disease' 'islet cell adenomatosis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007853 keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy 'keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy' SubClassOf 'inherited genetic disease' 'keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0019832 acquired pituitary hormone deficiency 'acquired pituitary hormone deficiency' SubClassOf 'hypopituitarism' 'acquired pituitary hormone deficiency' SubClassOf 'Combined pituitary hormone deficiencies, genetic forms' http://purl.obolibrary.org/obo/MONDO_0019846 acquired central diabetes insipidus 'acquired central diabetes insipidus' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_217591 Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy 'Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy' SubClassOf 'familial hypertrophic cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_217595 Syndrome associated with hypertrophic cardiomyopathy 'Syndrome associated with hypertrophic cardiomyopathy' SubClassOf 'familial hypertrophic cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_217581 Lysosomal disease with hypertrophic cardiomyopathy 'Lysosomal disease with hypertrophic cardiomyopathy' SubClassOf 'familial hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0020841 neurodevelopmental disorder with cerebellar atrophy and with or without seizures 'neurodevelopmental disorder with cerebellar atrophy and with or without seizures' SubClassOf 'inherited genetic disease' 'neurodevelopmental disorder with cerebellar atrophy and with or without seizures' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_217587 Mitochondrial disease with hypertrophic cardiomyopathy 'Mitochondrial disease with hypertrophic cardiomyopathy' SubClassOf 'familial hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0017264 syndromic recessive X-linked ichthyosis 'syndromic recessive X-linked ichthyosis' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_624 Familial multiple nevi flammei 'Familial multiple nevi flammei' SubClassOf 'Genetic vascular anomaly' 'Familial multiple nevi flammei' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_621 Hereditary methemoglobinemia 'Hereditary methemoglobinemia' SubClassOf 'Hemoglobinopathy' http://www.orpha.net/ORDO/Orphanet_627 Nance-Horan syndrome 'Nance-Horan syndrome' SubClassOf 'Rare genetic systemic or rheumatologic disease' http://www.orpha.net/ORDO/Orphanet_636 Neurofibromatosis type 1 'Neurofibromatosis type 1' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_656 Familial idiopathic steroid-resistant nephrotic syndrome 'Familial idiopathic steroid-resistant nephrotic syndrome' SubClassOf 'familial nephrotic syndrome' http://www.orpha.net/ORDO/Orphanet_650 LCAT deficiency 'LCAT deficiency' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_647 Nijmegen breakage syndrome 'Nijmegen breakage syndrome' SubClassOf 'Inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_667 Autosomal recessive malignant osteopetrosis 'Autosomal recessive malignant osteopetrosis' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_678 Papillon-Lefèvre syndrome 'Papillon-Lefèvre syndrome' SubClassOf 'Rare genetic odontologic disease' http://www.orpha.net/ORDO/Orphanet_676 Hereditary chronic pancreatitis 'Hereditary chronic pancreatitis' SubClassOf 'Inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_183734 Genetic gynecological tumor 'Genetic gynecological tumor' SubClassOf 'inherited genetic disease' http://www.orpha.net/ORDO/Orphanet_669 Otopalatodigital syndrome 'Otopalatodigital syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'Otopalatodigital syndrome' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_699 Pearson syndrome 'Pearson syndrome' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_183710 Genetic susceptibility to infections due to particular pathogens 'Genetic susceptibility to infections due to particular pathogens' SubClassOf 'inherited genetic disease' http://www.orpha.net/ORDO/Orphanet_30391 Biliary atresia 'Biliary atresia' SubClassOf 'Genetic biliary tract disease' http://www.orpha.net/ORDO/Orphanet_54370 Primary membranoproliferative glomerulonephritis 'Primary membranoproliferative glomerulonephritis' SubClassOf 'hereditary nephritis' http://www.orpha.net/ORDO/Orphanet_352662 Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis 'Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis' SubClassOf 'Rare genetic neurological disorder' http://purl.obolibrary.org/obo/MONDO_0007747 Hyperchlorhidrosis, isolated 'Hyperchlorhidrosis, isolated' SubClassOf 'inherited genetic disease' 'Hyperchlorhidrosis, isolated' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_464 Incontinentia pigmenti 'Incontinentia pigmenti' SubClassOf 'Rare genetic systemic or rheumatologic disease' http://www.orpha.net/ORDO/Orphanet_461 Recessive X-linked ichthyosis 'Recessive X-linked ichthyosis' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_474 Jeune syndrome 'Jeune syndrome' SubClassOf 'hereditary connective tissue disorder' 'Jeune syndrome' SubClassOf 'ciliopathy' 'Jeune syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0022409 http://purl.obolibrary.org/obo/MONDO_0019740 acquired thrombotic thrombocytopenic purpura 'acquired thrombotic thrombocytopenic purpura' SubClassOf 'congenital thrombotic thrombocytopenic purpura' http://www.orpha.net/ORDO/Orphanet_183592 Genetic renal tubular disease 'Genetic renal tubular disease' SubClassOf 'inherited genetic disease' http://www.orpha.net/ORDO/Orphanet_183595 Genetic renal tumor 'Genetic renal tumor' SubClassOf 'inherited genetic disease' http://www.orpha.net/ORDO/Orphanet_183598 Rare genetic palpebral, lacrimal system and conjunctival disease 'Rare genetic palpebral, lacrimal system and conjunctival disease' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_183589 Genetic thrombotic microangiopathy 'Genetic thrombotic microangiopathy' SubClassOf 'Rare genetic coagulation disorder' http://www.orpha.net/ORDO/Orphanet_503 Autosomal dominant Larsen syndrome 'Autosomal dominant Larsen syndrome' SubClassOf 'hereditary connective tissue disorder' 'Autosomal dominant Larsen syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://purl.obolibrary.org/obo/MONDO_0029131 peripheral neuropathy, autosomal recessive, with or without impaired intellectual development 'peripheral neuropathy, autosomal recessive, with or without impaired intellectual development' SubClassOf 'inherited genetic disease' 'peripheral neuropathy, autosomal recessive, with or without impaired intellectual development' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_183654 Rare genetic coagulation disorder 'Rare genetic coagulation disorder' SubClassOf 'inherited genetic disease' 'Rare genetic coagulation disorder' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_508 Leprechaunism 'Leprechaunism' SubClassOf 'Inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_183625 Rare genetic diabetes mellitus 'Rare genetic diabetes mellitus' SubClassOf 'Inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_534 Oculocerebrorenal syndrome 'Oculocerebrorenal syndrome' SubClassOf 'Rare genetic systemic or rheumatologic disease' http://www.orpha.net/ORDO/Orphanet_183634 Rare genetic parathyroid disease and phosphocalcic metabolism disorder 'Rare genetic parathyroid disease and phosphocalcic metabolism disorder' SubClassOf 'Inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_558 Marfan syndrome 'Marfan syndrome' SubClassOf 'hereditary connective tissue disorder' 'Marfan syndrome' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_567 22q11.2 deletion syndrome '22q11.2 deletion syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_564 Meckel syndrome 'Meckel syndrome' SubClassOf 'ciliopathy' 'Meckel syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'Meckel syndrome' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Meckel syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0022409 http://www.orpha.net/ORDO/Orphanet_562 McCune-Albright syndrome 'McCune-Albright syndrome' SubClassOf 'hereditary connective tissue disorder' 'McCune-Albright syndrome' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_560 Marshall syndrome 'Marshall syndrome' SubClassOf 'Rare genetic neurological disorder' 'Marshall syndrome' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_559 Marinesco-Sjögren syndrome 'Marinesco-Sjögren syndrome' SubClassOf 'Rare genetic systemic or rheumatologic disease' http://www.orpha.net/ORDO/Orphanet_158668 Epidermolysis bullosa simplex due to plakophilin deficiency 'Epidermolysis bullosa simplex due to plakophilin deficiency' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_54260 Left ventricular noncompaction 'Left ventricular noncompaction' SubClassOf 'familial cardiomyopathy' http://www.ebi.ac.uk/efo/EFO_0003900 ciliopathy 'ciliopathy' SubClassOf 'inherited genetic disease' 'ciliopathy' SubClassOf 'genetic disorder' 'ciliopathy' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_1001955 erythroleukemia 'erythroleukemia' SubClassOf 'acute erythroleukemia, familial' http://www.orpha.net/ORDO/Orphanet_93293 Okihiro syndrome 'Okihiro syndrome' SubClassOf 'Rare genetic neurological disorder' http://purl.obolibrary.org/obo/MONDO_0007653 genochondromatosis 'genochondromatosis' SubClassOf 'inherited genetic disease' 'genochondromatosis' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0003948 gastroesophageal reflux disease 'gastroesophageal reflux disease' SubClassOf 'inherited genetic disease' 'gastroesophageal reflux disease' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_1001979 Adrenocorticotropic hormone deficiency 'Adrenocorticotropic hormone deficiency' SubClassOf 'Combined pituitary hormone deficiencies, genetic forms' 'Adrenocorticotropic hormone deficiency' SubClassOf 'Isolated congenital hypogonadotropic hypogonadism' http://purl.obolibrary.org/obo/MONDO_0020628 microcephaly, growth restriction, and increased sister chromatid exchange 2 'microcephaly, growth restriction, and increased sister chromatid exchange 2' SubClassOf 'Inborn errors of metabolism' http://www.ebi.ac.uk/efo/EFO_1001994 Scleroderma Polymyositis Overlap Syndrome 'Scleroderma Polymyositis Overlap Syndrome' SubClassOf 'hereditary connective tissue disorder' http://www.ebi.ac.uk/efo/EFO_1001993 scleroderma 'scleroderma' SubClassOf 'Rare genetic systemic or rheumatologic disease' http://www.orpha.net/ORDO/Orphanet_93262 Crouzon syndrome - acanthosis nigricans 'Crouzon syndrome - acanthosis nigricans' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_93282 Spondyloepimetaphyseal dysplasia, Pakistani type 'Spondyloepimetaphyseal dysplasia, Pakistani type' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_861 Treacher-Collins syndrome 'Treacher-Collins syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_857 Townes-Brocks syndrome 'Townes-Brocks syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_888 Van der Woude syndrome 'Van der Woude syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_887 VACTERL/VATER association 'VACTERL/VATER association' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.ebi.ac.uk/efo/EFO_1001934 adult acute myeloid leukemia 'adult acute myeloid leukemia' SubClassOf 'acute leukemia of ambiguous lineage' 'adult acute myeloid leukemia' SubClassOf 'bilineal acute myeloid leukemia' 'adult acute myeloid leukemia' SubClassOf 'Inherited acute myeloid leukemia' http://www.orpha.net/ORDO/Orphanet_56304 Atelosteogenesis type II 'Atelosteogenesis type II' SubClassOf 'hereditary connective tissue disorder' 'Atelosteogenesis type II' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_56305 Atelosteogenesis type III 'Atelosteogenesis type III' SubClassOf 'hereditary connective tissue disorder' 'Atelosteogenesis type III' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_800 Schwartz-Jampel syndrome 'Schwartz-Jampel syndrome' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_811 Shwachman-Diamond syndrome 'Shwachman-Diamond syndrome' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_821 Sotos syndrome 'Sotos syndrome' SubClassOf 'Rare genetic systemic or rheumatologic disease' http://www.orpha.net/ORDO/Orphanet_819 Smith-Magenis syndrome 'Smith-Magenis syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_818 Smith-Lemli-Opitz syndrome 'Smith-Lemli-Opitz syndrome' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Smith-Lemli-Opitz syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_68335 Chromosomal anomaly 'Chromosomal anomaly' SubClassOf 'genetic disorder' 'Chromosomal anomaly' SubClassOf 'inherited genetic disease' 'Chromosomal anomaly' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_828 Stickler syndrome 'Stickler syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'Stickler syndrome' SubClassOf 'Rare genetic systemic or rheumatologic disease' http://www.orpha.net/ORDO/Orphanet_2909 Rothmund-Thomson syndrome 'Rothmund-Thomson syndrome' SubClassOf 'genetic skin disease' 'Rothmund-Thomson syndrome' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Rothmund-Thomson syndrome' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_95716 Familial thyroid dyshormonogenesis 'Familial thyroid dyshormonogenesis' SubClassOf 'nutritional or metabolic disease' 'Familial thyroid dyshormonogenesis' SubClassOf 'metabolic disease' 'Familial thyroid dyshormonogenesis' SubClassOf 'Inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0007500 ear malformation 'ear malformation' SubClassOf 'inherited genetic disease' 'ear malformation' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007573 acute erythroleukemia, familial 'acute erythroleukemia, familial' SubClassOf 'Inherited acute myeloid leukemia' 'acute erythroleukemia, familial' SubClassOf 'erythroid neoplasm' 'acute erythroleukemia, familial' SubClassOf 'unclassified acute myeloid leukemia' http://www.orpha.net/ORDO/Orphanet_744 Proteus syndrome 'Proteus syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_740 Hutchinson-Gilford progeria syndrome 'Hutchinson-Gilford progeria syndrome' SubClassOf 'genetic skin disease' 'Hutchinson-Gilford progeria syndrome' SubClassOf 'hereditary connective tissue disorder' 'Hutchinson-Gilford progeria syndrome' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_738 Porphyria 'Porphyria' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_735 Porokeratosis of Mibelli 'Porokeratosis of Mibelli' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_758 Pseudoxanthoma elasticum 'Pseudoxanthoma elasticum' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_773 Refsum disease 'Refsum disease' SubClassOf 'Rare genetic systemic or rheumatologic disease' http://www.orpha.net/ORDO/Orphanet_769 Rabson-Mendenhall syndrome 'Rabson-Mendenhall syndrome' SubClassOf 'Inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_71859 Rare genetic neurological disorder 'Rare genetic neurological disorder' SubClassOf 'inherited genetic disease' http://www.orpha.net/ORDO/Orphanet_710 Pfeiffer syndrome 'Pfeiffer syndrome' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_2962 De Barsy syndrome 'De Barsy syndrome' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'De Barsy syndrome' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_2987 Antecubital pterygium syndrome 'Antecubital pterygium syndrome' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_2985 Pseudoprogeria syndrome 'Pseudoprogeria syndrome' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_93448 Lysosomal storage disease with skeletal involvement 'Lysosomal storage disease with skeletal involvement' SubClassOf 'hereditary connective tissue disorder' http://purl.obolibrary.org/obo/MONDO_0019460 acute leukemia of ambiguous lineage 'acute leukemia of ambiguous lineage' SubClassOf 'acute disease' 'acute leukemia of ambiguous lineage' SubClassOf 'Acute Leukemia' 'acute leukemia of ambiguous lineage' SubClassOf 'myeloid leukemia' http://www.orpha.net/ORDO/Orphanet_168572 Native American myopathy 'Native American myopathy' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_168569 H syndrome 'H syndrome' SubClassOf 'Inborn errors of metabolism' 'H syndrome' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_93329 Autosomal recessive omodysplasia 'Autosomal recessive omodysplasia' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_93328 Autosomal dominant omodysplasia 'Autosomal dominant omodysplasia' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_68367 Inborn errors of metabolism 'Inborn errors of metabolism' SubClassOf 'genetic disorder' 'Inborn errors of metabolism' SubClassOf 'inherited genetic disease' 'Inborn errors of metabolism' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_276280 Hemihyperplasia-multiple lipomatosis syndrome 'Hemihyperplasia-multiple lipomatosis syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_93338 Polysyndactyly 'Polysyndactyly' SubClassOf 'Inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_93349 X-linked spondyloepimetaphyseal dysplasia 'X-linked spondyloepimetaphyseal dysplasia' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_93304 Autosomal dominant brachyolmia 'Autosomal dominant brachyolmia' SubClassOf 'hereditary connective tissue disorder' http://purl.obolibrary.org/obo/MONDO_0009948 pyropoikilocytosis, hereditary 'pyropoikilocytosis, hereditary' SubClassOf 'inherited genetic disease' 'pyropoikilocytosis, hereditary' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0010940 inherited susceptibility to asthma 'inherited susceptibility to asthma' SubClassOf 'inherited genetic disease' 'inherited susceptibility to asthma' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007329 cirrhosis, familial 'cirrhosis, familial' SubClassOf 'inherited genetic disease' 'cirrhosis, familial' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_93398 Genochondromatosis type 2 'Genochondromatosis type 2' SubClassOf 'hereditary connective tissue disorder' http://purl.obolibrary.org/obo/MONDO_0044302 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 'congenital heart defects, dysmorphic facial features, and intellectual developmental disorder' SubClassOf 'inherited genetic disease' 'congenital heart defects, dysmorphic facial features, and intellectual developmental disorder' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_998 Albinism-deafness syndrome 'Albinism-deafness syndrome' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0044312 immunoskeletal dysplasia with neurodevelopmental abnormalities 'immunoskeletal dysplasia with neurodevelopmental abnormalities' SubClassOf 'inherited genetic disease' 'immunoskeletal dysplasia with neurodevelopmental abnormalities' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0044319 intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies 'intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies' SubClassOf 'has modifier' some 'rare' 'intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies' SubClassOf 'Monogenic disease with epilepsy' 'intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_230857 Ehlers-Danlos/osteogenesis imperfecta syndrome 'Ehlers-Danlos/osteogenesis imperfecta syndrome' SubClassOf 'hereditary connective tissue disorder' http://purl.obolibrary.org/obo/MONDO_0044349 acquired hemoglobinopathy 'acquired hemoglobinopathy' SubClassOf 'inherited hemoglobinopathy' http://www.orpha.net/ORDO/Orphanet_181412 Adrenogenital syndrome 'Adrenogenital syndrome' SubClassOf 'Inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_910 Xeroderma pigmentosum 'Xeroderma pigmentosum' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_908 Fragile X syndrome 'Fragile X syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_906 Wiskott-Aldrich syndrome 'Wiskott-Aldrich syndrome' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_902 Werner syndrome 'Werner syndrome' SubClassOf 'genetic skin disease' 'Werner syndrome' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_921 Abruzzo-Erickson syndrome 'Abruzzo-Erickson syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_920 Ablepharon macrostomia syndrome 'Ablepharon macrostomia syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_916 Aase-Smith syndrome 'Aase-Smith syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_912 Zellweger syndrome 'Zellweger syndrome' SubClassOf 'Rare genetic systemic or rheumatologic disease' http://www.orpha.net/ORDO/Orphanet_950 Acrodysostosis 'Acrodysostosis' SubClassOf 'Dysostosis of genetic origin' http://www.orpha.net/ORDO/Orphanet_955 Acroosteolysis dominant type 'Acroosteolysis dominant type' SubClassOf 'hereditary connective tissue disorder' http://purl.obolibrary.org/obo/MONDO_0003689 familial hemolytic anemia 'familial hemolytic anemia' SubClassOf 'inherited genetic disease' 'familial hemolytic anemia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0015667 unclassified acute myeloid leukemia 'unclassified acute myeloid leukemia' SubClassOf 'Inherited acute myeloid leukemia' 'unclassified acute myeloid leukemia' SubClassOf 'bilineal acute myeloid leukemia' 'unclassified acute myeloid leukemia' SubClassOf 'acute leukemia of ambiguous lineage' http://purl.obolibrary.org/obo/MONDO_0001059 gastric lymphoma 'gastric lymphoma' SubClassOf 'hereditary gastric cancer' http://www.orpha.net/ORDO/Orphanet_30925 Hereditary central diabetes insipidus 'Hereditary central diabetes insipidus' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_353298 Roifman syndrome 'Roifman syndrome' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_137605 Legius syndrome 'Legius syndrome' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_137625 Glycogen storage disease due to muscle and heart glycogen synthase deficiency 'Glycogen storage disease due to muscle and heart glycogen synthase deficiency' SubClassOf 'familial hypertrophic cardiomyopathy' http://www.ebi.ac.uk/efo/EFO_0006551 CFPAC-1 'CFPAC-1' SubClassOf 'bearer_of' some 'ductal adenocarcinoma' 'CFPAC-1' SubClassOf 'bearer_of' some 'breast ductal adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0001117 methemoglobinemia 'methemoglobinemia' SubClassOf 'anemia (disease)' 'methemoglobinemia' SubClassOf 'inherited hemoglobinopathy' http://www.ebi.ac.uk/efo/EFO_0006494 SU.86.86 'SU.86.86' SubClassOf 'breast adenocarcinoma cell line' 'SU.86.86' SubClassOf 'cancer cell line' http://www.orpha.net/ORDO/Orphanet_235936 Familial hyperaldosteronism 'Familial hyperaldosteronism' SubClassOf 'inherited genetic disease' 'Familial hyperaldosteronism' SubClassOf 'Genetic hyperaldosteronism' 'Familial hyperaldosteronism' SubClassOf 'Rare genetic adrenal disease' http://www.ebi.ac.uk/efo/EFO_0006433 HCC2688 'HCC2688' SubClassOf 'bearer_of' some 'ductal adenocarcinoma' 'HCC2688' SubClassOf 'bearer_of' some 'breast ductal adenocarcinoma' http://www.orpha.net/ORDO/Orphanet_412206 Primary failure of tooth eruption 'Primary failure of tooth eruption' SubClassOf 'inherited genetic disease' http://www.orpha.net/ORDO/Orphanet_137888 Auriculocondylar syndrome 'Auriculocondylar syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://www.ebi.ac.uk/efo/EFO_0006794 cerebrospinal fluid biomarker measurement 'cerebrospinal fluid biomarker measurement' EquivalentTo 'measurement' and ('is_about' some 'cerebrospinal fluid') 'cerebrospinal fluid biomarker measurement' EquivalentTo 'measurement' and (('has_role' some 'biomarker') and ('is_about' some 'cerebrospinal fluid')) 'cerebrospinal fluid biomarker measurement' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_0004128 hereditary nephritis 'hereditary nephritis' SubClassOf 'inherited genetic disease' 'hereditary nephritis' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_208596 Genetic hyperparathyroidism 'Genetic hyperparathyroidism' SubClassOf 'Inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_208593 Genetic hypoparathyroidism 'Genetic hypoparathyroidism' SubClassOf 'Inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0042966 inherited mitral valve disease 'inherited mitral valve disease' SubClassOf 'inherited genetic disease' 'inherited mitral valve disease' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia 'Inclusion body myopathy with Paget disease of bone and frontotemporal dementia' SubClassOf 'hereditary connective tissue disorder' http://www.ebi.ac.uk/efo/EFO_0006623 KP-4 'KP-4' SubClassOf 'breast adenocarcinoma cell line' 'KP-4' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0006656 mPAC L20 'mPAC L20' SubClassOf 'breast adenocarcinoma cell line' 'mPAC L20' SubClassOf 'cancer cell line' http://purl.obolibrary.org/obo/MONDO_0054833 charcot-marie-tooth disease, axonal, type 2DD 'charcot-marie-tooth disease, axonal, type 2DD' SubClassOf 'Autosomal dominant Charcot-Marie-Tooth disease type 2' 'charcot-marie-tooth disease, axonal, type 2DD' SubClassOf 'autosomal dominant disease' 'charcot-marie-tooth disease, axonal, type 2DD' SubClassOf 'Autosomal dominant Charcot-Marie-Tooth disease type 2' http://www.orpha.net/ORDO/Orphanet_91494 Macular coloboma - cleft palate - hallux valgus 'Macular coloboma - cleft palate - hallux valgus' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_91498 Familial congenital palsy of trochlear nerve 'Familial congenital palsy of trochlear nerve' SubClassOf 'Rare genetic neurological disorder' 'Familial congenital palsy of trochlear nerve' SubClassOf 'fourth cranial nerve palsy' http://www.ebi.ac.uk/efo/EFO_0006929 IgG index 'IgG index' SubClassOf 'cerebrospinal fluid biomarker measurement' 'IgG index' SubClassOf 'is_about' some 'cerebrospinal fluid' 'IgG index' SubClassOf 'is_about' some ('cerebrospinal fluid' and ('has_role' some 'biomarker')) http://www.orpha.net/ORDO/Orphanet_363189 congenital anomaly of the great veins 'congenital anomaly of the great veins' SubClassOf 'Genetic vascular anomaly' http://www.orpha.net/ORDO/Orphanet_91397 Isolated ankyloblepharon filiforme adnatum 'Isolated ankyloblepharon filiforme adnatum' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_91378 Hereditary angioedema 'Hereditary angioedema' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_101934 Genetic cardiac rhythm disease 'Genetic cardiac rhythm disease' SubClassOf 'inherited genetic disease' http://www.orpha.net/ORDO/Orphanet_101972 Combined T and B cell immunodeficiency 'Combined T and B cell immunodeficiency' SubClassOf 'inherited genetic disease' 'Combined T and B cell immunodeficiency' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0017814 primary bone lymphoma 'primary bone lymphoma' SubClassOf 'hereditary connective tissue disorder' http://purl.obolibrary.org/obo/MONDO_0015003 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 'dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities' SubClassOf 'Rare genetic dystonia' 'dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities' SubClassOf 'Rare syndromic dyslipidemia' 'dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities' SubClassOf 'Lipoic acid biosynthesis defect' 'dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities' SubClassOf 'Cerebral organic aciduria' 'dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities' SubClassOf 'Persistent combined dystonia' 'dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities' SubClassOf 'Genetic neurodegenerative disease' 'dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities' SubClassOf 'eye degenerative disease' 'dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities' SubClassOf 'syndromic hereditary optic neuropathy' 'dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities' SubClassOf 'congenital nervous system disorder' 'dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities' SubClassOf 'Neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0015009 hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to 'hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to' SubClassOf 'inherited genetic disease' 'hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0054636 Skraban-Deardorff syndrome 'Skraban-Deardorff syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.ebi.ac.uk/efo/EFO_0004537 neonatal systemic lupus erthematosus 'neonatal systemic lupus erthematosus' SubClassOf 'Autosomal recessive systemic lupus erythematosus' http://www.ebi.ac.uk/efo/EFO_0004562 cryptorchidism 'cryptorchidism' SubClassOf 'inherited genetic disease' 'cryptorchidism' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_42665 Tietz syndrome 'Tietz syndrome' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_66629 Goldberg-Shprintzen megacolon syndrome 'Goldberg-Shprintzen megacolon syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_42642 PFAPA syndrome 'PFAPA syndrome' SubClassOf 'Hereditary periodic fever syndrome' http://www.orpha.net/ORDO/Orphanet_139373 Recessive hereditary methemoglobinemia type 1 'Recessive hereditary methemoglobinemia type 1' SubClassOf 'methemoglobinemia' http://www.orpha.net/ORDO/Orphanet_404568 Dysostosis of genetic origin 'Dysostosis of genetic origin' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_139380 Recessive hereditary methemoglobinemia type 2 'Recessive hereditary methemoglobinemia type 2' SubClassOf 'methemoglobinemia' http://purl.obolibrary.org/obo/MONDO_0013953 immunodeficiency 28 'immunodeficiency 28' SubClassOf 'inherited genetic disease' 'immunodeficiency 28' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0011323 arhinia, choanal atresia, and microphthalmia 'arhinia, choanal atresia, and microphthalmia' SubClassOf 'inherited genetic disease' 'arhinia, choanal atresia, and microphthalmia' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_35107 Desmosterolosis 'Desmosterolosis' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_35125 Epidermal nevus syndrome 'Epidermal nevus syndrome' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_35173 X-linked dominant chondrodysplasia punctata 'X-linked dominant chondrodysplasia punctata' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'X-linked dominant chondrodysplasia punctata' SubClassOf 'hereditary connective tissue disorder' 'X-linked dominant chondrodysplasia punctata' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_98702 Connective tissue disease with eye involvement 'Connective tissue disease with eye involvement' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_98706 Oculocutaneous or ocular albinism 'Oculocutaneous or ocular albinism' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_98724 congenital anomaly of the great arteries 'congenital anomaly of the great arteries' SubClassOf 'Genetic vascular anomaly' http://www.orpha.net/ORDO/Orphanet_2001 Cleft lip/palate - intestinal malrotation - cardiopathy 'Cleft lip/palate - intestinal malrotation - cardiopathy' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_2008 Acro-cardio-facial syndrome 'Acro-cardio-facial syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_2003 Cleft lip/palate - deafness - sacral lipoma 'Cleft lip/palate - deafness - sacral lipoma' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_2016 Cleft palate-lateral synechia syndrome 'Cleft palate-lateral synechia syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_2015 Cleft palate - short stature - vertebral anomalies 'Cleft palate - short stature - vertebral anomalies' SubClassOf 'genetic otorhinolaryngologic disease' http://purl.obolibrary.org/obo/MONDO_0001713 inherited aplastic anemia 'inherited aplastic anemia' SubClassOf 'inherited genetic disease' 'inherited aplastic anemia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0011118 bilineal acute myeloid leukemia 'bilineal acute myeloid leukemia' SubClassOf 'myeloid leukemia' 'bilineal acute myeloid leukemia' SubClassOf 'Acute Leukemia' 'bilineal acute myeloid leukemia' SubClassOf 'acute disease' http://www.orpha.net/ORDO/Orphanet_140436 Primary intraosseous vascular malformation 'Primary intraosseous vascular malformation' SubClassOf 'rare genetic vascular tumor' http://www.ebi.ac.uk/efo/EFO_0008499 DNA repair deficiency 'DNA repair deficiency' SubClassOf 'nutritional or metabolic disease' 'DNA repair deficiency' SubClassOf 'Inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_139411 Carney triad 'Carney triad' SubClassOf 'Inherited cancer-predisposing syndrome' http://www.orpha.net/ORDO/Orphanet_98643 Systemic disease with cataract 'Systemic disease with cataract' SubClassOf 'Rare genetic systemic or rheumatologic disease' http://www.orpha.net/ORDO/Orphanet_60015 Parietal foramina 'Parietal foramina' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_35099 Isolated brachycephaly 'Isolated brachycephaly' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_35098 Isolated plagiocephaly 'Isolated plagiocephaly' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_35093 Isolated scaphocephaly 'Isolated scaphocephaly' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_98657 Genetic vitreous-retinal disease 'Genetic vitreous-retinal disease' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_211240 Genetic vascular anomaly 'Genetic vascular anomaly' SubClassOf 'inherited genetic disease' http://purl.obolibrary.org/obo/MONDO_0013483 obesity, hyperphagia, and developmental delay 'obesity, hyperphagia, and developmental delay' SubClassOf 'inherited genetic disease' 'obesity, hyperphagia, and developmental delay' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome 'Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_306558 Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome 'Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome' SubClassOf 'Inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0013511 cyanosis, transient neonatal 'cyanosis, transient neonatal' SubClassOf 'inherited genetic disease' 'cyanosis, transient neonatal' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0025511 inherited neuroendocrine tumor 'inherited neuroendocrine tumor' SubClassOf 'inherited genetic disease' 'inherited neuroendocrine tumor' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013564 anhaptoglobinemia 'anhaptoglobinemia' SubClassOf 'inherited genetic disease' 'anhaptoglobinemia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013586 Chitotriosidase deficiency 'Chitotriosidase deficiency' SubClassOf 'inherited genetic disease' 'Chitotriosidase deficiency' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_49042 Dentinogenesis imperfecta 'Dentinogenesis imperfecta' SubClassOf 'tooth disease' http://purl.obolibrary.org/obo/MONDO_0013461 inosine triphosphatase deficiency 'inosine triphosphatase deficiency' SubClassOf 'inherited genetic disease' 'inosine triphosphatase deficiency' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0006342 aggressive periodontitis 'aggressive periodontitis' SubClassOf 'inherited genetic disease' 'aggressive periodontitis' SubClassOf 'Rare genetic odontologic disease' http://www.orpha.net/ORDO/Orphanet_284811 Syndromic oculocutaneous albinism 'Syndromic oculocutaneous albinism' SubClassOf 'genetic skin disease' http://www.ebi.ac.uk/efo/EFO_0006392 FA6 'FA6' SubClassOf 'breast adenocarcinoma cell line' 'FA6' SubClassOf 'cancer cell line' http://www.orpha.net/ORDO/Orphanet_140997 Orofaciodigital syndrome 'Orofaciodigital syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_140963 Bilateral microtia - deafness - cleft palate 'Bilateral microtia - deafness - cleft palate' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_101435 Rare genetic eye disease 'Rare genetic eye disease' SubClassOf 'genetic disorder' 'Rare genetic eye disease' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_369929 Aldosterone-producing adenoma with seizures and neurological abnormalities 'Aldosterone-producing adenoma with seizures and neurological abnormalities' SubClassOf 'Genetic hyperaldosteronism' http://www.orpha.net/ORDO/Orphanet_98374 Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder 'Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder' SubClassOf 'metabolic disease' 'Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder' SubClassOf 'nutritional or metabolic disease' 'Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder' SubClassOf 'Inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_98370 Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies 'Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies' SubClassOf 'Inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_247794 Juvenile cataract - microcornea - renal glucosuria 'Juvenile cataract - microcornea - renal glucosuria' SubClassOf 'Rare genetic neurological disorder' http://www.ebi.ac.uk/efo/EFO_0006318 breast ductal adenocarcinoma 'breast ductal adenocarcinoma' SubClassOf 'ductal adenocarcinoma' 'breast ductal adenocarcinoma' SubClassOf 'breast adenocarcinoma' http://www.orpha.net/ORDO/Orphanet_369992 Severe dermatitis-multiple allergies-metabolic wasting syndrome 'Severe dermatitis-multiple allergies-metabolic wasting syndrome' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_140933 Linear atrophoderma of Moulin 'Linear atrophoderma of Moulin' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0003832 complement deficiency 'complement deficiency' SubClassOf 'nutritional or metabolic disease' 'complement deficiency' SubClassOf 'metabolic disease' 'complement deficiency' SubClassOf 'Inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0003847 inherited genetic disease 'inherited genetic disease' SubClassOf 'has modifier' some 'inherited' 'inherited genetic disease' EquivalentTo 'disease' and ('has modifier' some 'inherited') 'inherited genetic disease' SubClassOf 'disease' http://purl.obolibrary.org/obo/MONDO_0001222 congenital T-cell immunodeficiency 'congenital T-cell immunodeficiency' SubClassOf 'inherited genetic disease' 'congenital T-cell immunodeficiency' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0015879 non-syndromic diaphragmatic or thoracic malformation 'non-syndromic diaphragmatic or thoracic malformation' SubClassOf 'disease' 'non-syndromic diaphragmatic or thoracic malformation' SubClassOf 'thoracic disease' http://purl.obolibrary.org/obo/MONDO_0015880 syndromic diaphragmatic or thoracic malformation 'syndromic diaphragmatic or thoracic malformation' SubClassOf 'disease' 'syndromic diaphragmatic or thoracic malformation' SubClassOf 'thoracic disease' http://www.ebi.ac.uk/efo/EFO_0010059 cerebral microbleeds 'cerebral microbleeds' SubClassOf 'abnormality of the cerebral vasculature' http://www.ebi.ac.uk/efo/EFO_0010057 vascular cell adhesion molecule-1 measurement 'vascular cell adhesion molecule-1 measurement' SubClassOf 'adhesion molecule measurement' http://www.ebi.ac.uk/efo/EFO_0010058 Fluidigm C1-based library preparation 'Fluidigm C1-based library preparation' SubClassOf 'has_participant' some 'Fluidigm C1 microfluidics platform' 'Fluidigm C1-based library preparation' SubClassOf 'assay by Fluidigm C1 microfluidics platform' 'Fluidigm C1-based library preparation' SubClassOf 'library preparation' http://www.ebi.ac.uk/efo/EFO_0010055 response to calcineurin inhibitor 'response to calcineurin inhibitor' SubClassOf 'response to immunosuppressant' http://www.ebi.ac.uk/efo/EFO_0010056 liver iron measurement 'liver iron measurement' SubClassOf 'is_about' some 'liver' 'liver iron measurement' SubClassOf 'is_about' some ('iron' and ('has_role' some 'biomarker')) 'liver iron measurement' SubClassOf 'is_about' some 'liver disease' 'liver iron measurement' SubClassOf 'iron biomarker measurement' 'liver iron measurement' SubClassOf 'liver disease biomarker' http://www.ebi.ac.uk/efo/EFO_0010053 response to cyclosporine 'response to cyclosporine' SubClassOf 'response to immunosuppressant' 'response to cyclosporine' SubClassOf 'has_input' some 'cyclosporin A' http://www.ebi.ac.uk/efo/EFO_0010054 response to mycophenolic acid 'response to mycophenolic acid' SubClassOf 'response to immunosuppressant' 'response to mycophenolic acid' SubClassOf 'has_input' some 'mycophenolate' http://www.ebi.ac.uk/efo/EFO_0010051 response to immunosuppressant 'response to immunosuppressant' SubClassOf 'response to drug' http://www.ebi.ac.uk/efo/EFO_0010052 response to tacrolimus 'response to tacrolimus' SubClassOf 'response to immunosuppressant' 'response to tacrolimus' SubClassOf 'has_input' some 'tacrolimus hydrate' http://www.ebi.ac.uk/efo/EFO_0010050 thyroglobulin measurement 'thyroglobulin measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0010049 asthma symptoms measurement 'asthma symptoms measurement' SubClassOf 'is_about' some 'asthma' 'asthma symptoms measurement' SubClassOf 'measurement' 'asthma symptoms measurement' SubClassOf 'respiratory disease biomarker' http://www.ebi.ac.uk/efo/EFO_0010079 corneal endothelial cell measurement 'corneal endothelial cell measurement' SubClassOf 'is_about' some 'corneal endothelium' 'corneal endothelial cell measurement' SubClassOf 'eye measurement' http://www.ebi.ac.uk/efo/EFO_0010077 response to belimumab 'response to belimumab' SubClassOf 'response to drug' http://www.ebi.ac.uk/efo/EFO_0010078 dentures 'dentures' SubClassOf 'medical procedure' http://www.ebi.ac.uk/efo/EFO_0010075 intertrochanteric region size 'intertrochanteric region size' SubClassOf 'is_about' some 'femur' 'intertrochanteric region size' SubClassOf 'hip bone size' http://www.ebi.ac.uk/efo/EFO_0010076 femoral neck size 'femoral neck size' SubClassOf 'is_about' some 'femur' 'femoral neck size' SubClassOf 'hip bone size' http://www.ebi.ac.uk/efo/EFO_0010073 number of teeth measurement 'number of teeth measurement' SubClassOf 'measurement' 'number of teeth measurement' SubClassOf 'is_about' some 'tooth' http://www.ebi.ac.uk/efo/EFO_0010074 trochanter size 'trochanter size' SubClassOf 'hip bone size' 'trochanter size' SubClassOf 'is_about' some 'trochanter' http://www.ebi.ac.uk/efo/EFO_0010071 cardiac troponin I measurement 'cardiac troponin I measurement' SubClassOf 'heart function measurement' 'cardiac troponin I measurement' SubClassOf 'is_about' some 'heart' 'cardiac troponin I measurement' SubClassOf 'is_about' some 'heart disease' http://www.ebi.ac.uk/efo/EFO_0010072 toothache 'toothache' SubClassOf 'pain' http://www.ebi.ac.uk/efo/EFO_0010070 nerve conduction amplitude 'nerve conduction amplitude' SubClassOf 'nerve conduction measurement' 'nerve conduction amplitude' SubClassOf 'is_about' some 'adult nervous system' http://www.ebi.ac.uk/efo/EFO_0010068 respiratory symptom change measurement 'respiratory symptom change measurement' SubClassOf 'respiratory disease biomarker' 'respiratory symptom change measurement' SubClassOf 'is_about' some 'respiratory system disease' http://www.ebi.ac.uk/efo/EFO_0010069 nerve conduction velocity 'nerve conduction velocity' SubClassOf 'is_about' some 'adult nervous system' 'nerve conduction velocity' SubClassOf 'nerve conduction measurement' http://www.ebi.ac.uk/efo/EFO_0010066 corneal hysteresis 'corneal hysteresis' SubClassOf 'eye measurement' 'corneal hysteresis' SubClassOf 'is_about' some 'Keratoconus' 'corneal hysteresis' SubClassOf 'is_about' some 'cornea' http://www.ebi.ac.uk/efo/EFO_0010067 corneal resistance factor 'corneal resistance factor' SubClassOf 'eye measurement' 'corneal resistance factor' SubClassOf 'is_about' some 'Keratoconus' 'corneal resistance factor' SubClassOf 'is_about' some 'cornea' http://www.ebi.ac.uk/efo/EFO_0010064 Pharmacotherapy 'Pharmacotherapy' SubClassOf 'Therapeutic Procedure' http://www.ebi.ac.uk/efo/EFO_0010065 response to intravenous immunoglobulin therapy 'response to intravenous immunoglobulin therapy' SubClassOf 'Pharmacotherapy' 'response to intravenous immunoglobulin therapy' SubClassOf 'has_input' some 'anti-IgG' http://www.ebi.ac.uk/efo/EFO_0010062 response to salmeterol 'response to salmeterol' SubClassOf 'response to drug' 'response to salmeterol' SubClassOf 'has_input' some 'salmeterol' http://www.ebi.ac.uk/efo/EFO_0010063 Therapeutic Procedure 'Therapeutic Procedure' SubClassOf 'medical procedure' http://www.ebi.ac.uk/efo/EFO_0010060 chronic human papillomavirus infection 'chronic human papillomavirus infection' SubClassOf 'chronic disease' 'chronic human papillomavirus infection' SubClassOf 'human papilloma virus infection' http://www.ebi.ac.uk/efo/EFO_0010082 nerve conduction measurement 'nerve conduction measurement' SubClassOf 'measurement' 'nerve conduction measurement' SubClassOf 'nervous system measurement' 'nerve conduction measurement' SubClassOf 'is_about' some 'adult nervous system' http://www.ebi.ac.uk/efo/EFO_0010080 geographic atrophy lesion growth 'geographic atrophy lesion growth' SubClassOf 'macula measurement' 'geographic atrophy lesion growth' SubClassOf 'is_about' some 'retina' 'geographic atrophy lesion growth' SubClassOf 'is_about' some 'age-related macular degeneration' http://www.ebi.ac.uk/efo/EFO_0010081 Afp-GFP 'Afp-GFP' SubClassOf 'Mus musculus' http://purl.obolibrary.org/obo/HP_0100659 abnormality of the cerebral vasculature 'abnormality of the cerebral vasculature' SubClassOf 'Abnormality of the vasculature' http://purl.obolibrary.org/obo/MONDO_0100079 cardioectodermal syndrome 'cardioectodermal syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/CHEBI_62932 mycophenolate 'mycophenolate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/MONDO_0022410 retinal ciliopathy 'retinal ciliopathy' SubClassOf 'Rare genetic neurological disorder' 'retinal ciliopathy' SubClassOf 'ciliopathy' 'retinal ciliopathy' SubClassOf 'retinopathy' http://purl.obolibrary.org/obo/MONDO_0022409 nephropathy-associated ciliopathy 'nephropathy-associated ciliopathy' SubClassOf 'ciliopathy' 'nephropathy-associated ciliopathy' SubClassOf 'kidney disease' http://purl.obolibrary.org/obo/MONDO_0100071 cardiocutaneous syndrome 'cardiocutaneous syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009022 corpus callosum, agenesis of 'corpus callosum, agenesis of' SubClassOf 'congenital nervous system disorder' 'corpus callosum, agenesis of' SubClassOf 'Rare genetic neurological disorder' http://purl.obolibrary.org/obo/MONDO_0003847 inherited genetic disease 'inherited genetic disease' SubClassOf 'has modifier' some 'inherited' 'inherited genetic disease' EquivalentTo 'disease' and ('has modifier' some 'inherited') 'inherited genetic disease' SubClassOf 'disease'