710 34 3 http://www.ebi.ac.uk/efo/EFO_1000234 Endometrial Hyperplasia without Atypia 'Endometrial Hyperplasia without Atypia' SubClassOf 'endometrial hyperplasia' 'Endometrial Hyperplasia without Atypia' SubClassOf 'female reproductive system disease' http://www.ebi.ac.uk/efo/EFO_1000202 Complex Endometrial Hyperplasia 'Complex Endometrial Hyperplasia' SubClassOf 'endometrial hyperplasia' 'Complex Endometrial Hyperplasia' SubClassOf 'female reproductive system disease' http://purl.obolibrary.org/obo/MONDO_0021582 lentigo 'lentigo' SubClassOf 'genetic disorder' 'lentigo' SubClassOf 'skin disease' 'lentigo' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://www.orpha.net/ORDO/Orphanet_33069 Dravet syndrome 'Dravet syndrome' SubClassOf 'epilepsy' 'Dravet syndrome' SubClassOf 'monogenic epilepsy' http://www.ebi.ac.uk/efo/EFO_0002970 muscular disease 'muscular disease' SubClassOf 'musculoskeletal system disease' 'muscular disease' SubClassOf 'musculoskeletal system disease' http://purl.obolibrary.org/obo/MONDO_0008403 scalp defects-postaxial polydactyly syndrome 'scalp defects-postaxial polydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://purl.obolibrary.org/obo/MONDO_0008426 Shprintzen-Goldberg syndrome 'Shprintzen-Goldberg syndrome' SubClassOf 'syndromic intellectual disability' 'Shprintzen-Goldberg syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0008425 omphalocele syndrome, Shprintzen-Goldberg type 'omphalocele syndrome, Shprintzen-Goldberg type' SubClassOf 'syndromic intellectual disability' 'omphalocele syndrome, Shprintzen-Goldberg type' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0008439 spastic paraplegia-epilepsy-intellectual disability syndrome 'spastic paraplegia-epilepsy-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'spastic paraplegia-epilepsy-intellectual disability syndrome' SubClassOf 'intellectual disability, autosomal dominant' http://purl.obolibrary.org/obo/MONDO_0008434 Smith-Magenis syndrome 'Smith-Magenis syndrome' SubClassOf 'syndromic intellectual disability' 'Smith-Magenis syndrome' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_69088 Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema 'Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema' SubClassOf 'skin disease' 'Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://purl.obolibrary.org/obo/MONDO_0008445 delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome 'delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome' SubClassOf 'syndromic intellectual disability' 'delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0008440 spastic paraplegia-nephritis-deafness syndrome 'spastic paraplegia-nephritis-deafness syndrome' SubClassOf 'intellectual disability, autosomal dominant' 'spastic paraplegia-nephritis-deafness syndrome' SubClassOf 'syndromic intellectual disability' http://www.ebi.ac.uk/efo/EFO_0000274 atopic eczema 'atopic eczema' SubClassOf 'genetic disorder' 'atopic eczema' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://purl.obolibrary.org/obo/MONDO_0008467 Czeizel-Losonci syndrome 'Czeizel-Losonci syndrome' SubClassOf 'congenital nervous system disorder' 'Czeizel-Losonci syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008488 holoprosencephaly-radial heart renal anomalies syndrome 'holoprosencephaly-radial heart renal anomalies syndrome' SubClassOf 'congenital nervous system disorder' 'holoprosencephaly-radial heart renal anomalies syndrome' SubClassOf 'syndromic intellectual disability' http://www.ebi.ac.uk/efo/EFO_0000676 psoriasis 'psoriasis' SubClassOf 'genetic disorder' 'psoriasis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://purl.obolibrary.org/obo/HP_0004552 Scarring alopecia of scalp 'Scarring alopecia of scalp' SubClassOf 'skin disease' 'Scarring alopecia of scalp' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://purl.obolibrary.org/obo/MONDO_0011876 juvenile absence epilepsy 'juvenile absence epilepsy' SubClassOf 'genetic disorder' 'juvenile absence epilepsy' SubClassOf 'monogenic epilepsy' http://purl.obolibrary.org/obo/MONDO_0008222 Andersen-Tawil syndrome 'Andersen-Tawil syndrome' SubClassOf 'familial periodic paralysis' 'Andersen-Tawil syndrome' SubClassOf 'familial long QT syndrome' 'Andersen-Tawil syndrome' SubClassOf 'syndromic disease' 'Andersen-Tawil syndrome' SubClassOf 'periodic paralysis' 'Andersen-Tawil syndrome' SubClassOf 'disease has feature' some 'torsades de pointes' 'Andersen-Tawil syndrome' SubClassOf 'congenital heart disease' http://purl.obolibrary.org/obo/MONDO_0008221 prolidase deficiency 'prolidase deficiency' SubClassOf 'skin disease' 'prolidase deficiency' SubClassOf 'lymphatic malformation' 'prolidase deficiency' SubClassOf 'syndromic lymphedema' 'prolidase deficiency' SubClassOf 'syndromic intellectual disability' 'prolidase deficiency' SubClassOf 'neurovascular disorder' 'prolidase deficiency' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0008244 piebaldism 'piebaldism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://purl.obolibrary.org/obo/MONDO_0008267 orofaciodigital syndrome V 'orofaciodigital syndrome V' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_1414 Cholestasis-lymphedema syndrome 'Cholestasis-lymphedema syndrome' SubClassOf 'skin disease' 'Cholestasis-lymphedema syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://www.orpha.net/ORDO/Orphanet_86917 Lymphedema - cleft palate 'Lymphedema - cleft palate' SubClassOf 'skin disease' 'Lymphedema - cleft palate' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://www.ebi.ac.uk/efo/EFO_0009270 heel bone mineral density 'heel bone mineral density' SubClassOf 'bone density' 'heel bone mineral density' SubClassOf 'is_about' some 'bone element' 'heel bone mineral density' SubClassOf 'bone density' 'heel bone mineral density' SubClassOf 'is_about' some 'bone element' http://purl.obolibrary.org/obo/MONDO_0011722 intellectual disability-obesity-prognathism-eye and skin anomalies syndrome 'intellectual disability-obesity-prognathism-eye and skin anomalies syndrome' SubClassOf 'syndromic intellectual disability' 'intellectual disability-obesity-prognathism-eye and skin anomalies syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0008130 ophthalmoplegia-intellectual disability-lingua scrotalis syndrome 'ophthalmoplegia-intellectual disability-lingua scrotalis syndrome' SubClassOf 'congenital nervous system disorder' 'ophthalmoplegia-intellectual disability-lingua scrotalis syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008137 orofaciodigital syndrome X 'orofaciodigital syndrome X' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008157 Buschke-Ollendorff syndrome 'Buschke-Ollendorff syndrome' SubClassOf 'dermis elastic tissue disorder' 'Buschke-Ollendorff syndrome' SubClassOf 'osteopetrosis' http://purl.obolibrary.org/obo/MONDO_0008185 hereditary chronic pancreatitis 'hereditary chronic pancreatitis' SubClassOf 'inborn errors of metabolism' 'hereditary chronic pancreatitis' SubClassOf 'diabetes mellitus' 'hereditary chronic pancreatitis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0060760 intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 'intellectual developmental disorder with dysmorphic facies and behavioral abnormalities' SubClassOf 'syndromic intellectual disability' 'intellectual developmental disorder with dysmorphic facies and behavioral abnormalities' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0060763 intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities 'intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities' SubClassOf 'syndromic intellectual disability' 'intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities' SubClassOf 'syndromic intellectual disability' http://www.ebi.ac.uk/efo/EFO_0000717 systemic scleroderma 'systemic scleroderma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://www.ebi.ac.uk/efo/EFO_0000779 Drosophila C virus infection 'Drosophila C virus infection' SubClassOf 'animal disease' 'Drosophila C virus infection' SubClassOf 'primary viral infectious disease' 'Drosophila C virus infection' SubClassOf 'viral disease' 'Drosophila C virus infection' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700053 http://www.ebi.ac.uk/efo/EFO_0000765 AIDS 'AIDS' SubClassOf 'reproductive system disease' http://www.ebi.ac.uk/efo/EFO_0009160 stromme syndrome 'stromme syndrome' SubClassOf 'syndromic intellectual disability' 'stromme syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0011640 genitopatellar syndrome 'genitopatellar syndrome' SubClassOf 'congenital nervous system disorder' 'genitopatellar syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0021026 genetic epidermal appendage anomaly 'genetic epidermal appendage anomaly' SubClassOf 'genetic disorder' 'genetic epidermal appendage anomaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://purl.obolibrary.org/obo/MONDO_0011506 familial infantile myoclonic epilepsy 'familial infantile myoclonic epilepsy' SubClassOf 'monogenic epilepsy' http://purl.obolibrary.org/obo/MONDO_0011518 Wiedemann-Steiner syndrome 'Wiedemann-Steiner syndrome' SubClassOf 'syndromic intellectual disability' 'Wiedemann-Steiner syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0011510 Bohring-Opitz syndrome 'Bohring-Opitz syndrome' SubClassOf 'syndromic intellectual disability' 'Bohring-Opitz syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0011575 cerebrooculonasal syndrome 'cerebrooculonasal syndrome' SubClassOf 'syndromic intellectual disability' 'cerebrooculonasal syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0011576 familial hyperaldosteronism type II 'familial hyperaldosteronism type II' SubClassOf 'adrenal/paraganglial tumor' http://www.orpha.net/ORDO/Orphanet_33001 Lymphedema - distichiasis 'Lymphedema - distichiasis' SubClassOf 'skin disease' 'Lymphedema - distichiasis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://www.ebi.ac.uk/efo/EFO_0009324 APOL1 risk genotype carrier status 'APOL1 risk genotype carrier status' SubClassOf 'carrier status' 'APOL1 risk genotype carrier status' SubClassOf 'is_about' some 'chronic kidney disease' 'APOL1 risk genotype carrier status' SubClassOf 'carrier status' 'APOL1 risk genotype carrier status' SubClassOf 'is_about' some 'chronic kidney disease' http://purl.obolibrary.org/obo/MONDO_0011405 poikiloderma with neutropenia 'poikiloderma with neutropenia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://purl.obolibrary.org/obo/MONDO_0011402 congenital cataracts-facial dysmorphism-neuropathy syndrome 'congenital cataracts-facial dysmorphism-neuropathy syndrome' SubClassOf 'syndromic intellectual disability' 'congenital cataracts-facial dysmorphism-neuropathy syndrome' SubClassOf 'syndromic epicanthus' http://www.orpha.net/ORDO/Orphanet_1008 Alopecia - epilepsy - pyorrhea - intellectual disability 'Alopecia - epilepsy - pyorrhea - intellectual disability' SubClassOf 'skin disease' 'Alopecia - epilepsy - pyorrhea - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://www.orpha.net/ORDO/Orphanet_1014 Alopecia - intellectual disability - hypergonadotropic hypogonadism 'Alopecia - intellectual disability - hypergonadotropic hypogonadism' SubClassOf 'skin disease' 'Alopecia - intellectual disability - hypergonadotropic hypogonadism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://purl.obolibrary.org/obo/MONDO_0011445 hereditary spastic paraplegia 11 'hereditary spastic paraplegia 11' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0011457 ataxia-telangiectasia-like disorder 'ataxia-telangiectasia-like disorder' SubClassOf 'skin vascular disease' 'ataxia-telangiectasia-like disorder' SubClassOf 'neurovascular disorder' http://purl.obolibrary.org/obo/MONDO_0011499 Okamoto syndrome 'Okamoto syndrome' SubClassOf 'syndromic intellectual disability' 'Okamoto syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0018760 DeSanto-Shinawi syndrome 'DeSanto-Shinawi syndrome' SubClassOf 'congenital nervous system disorder' 'DeSanto-Shinawi syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0016146 caveolinopathy 'caveolinopathy' SubClassOf 'muscular disease' 'caveolinopathy' SubClassOf 'muscle tissue disorder' http://purl.obolibrary.org/obo/MONDO_0016160 X-linked intellectual disability-epilepsy syndrome 'X-linked intellectual disability-epilepsy syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability-epilepsy syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0041161 endometrial hyperplasia 'endometrial hyperplasia' SubClassOf 'endometrial disorder' 'endometrial hyperplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79452 Milroy disease 'Milroy disease' SubClassOf 'skin disease' 'Milroy disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://purl.obolibrary.org/obo/MONDO_0018614 undetermined early-onset epileptic encephalopathy 'undetermined early-onset epileptic encephalopathy' SubClassOf 'monogenic epilepsy' http://purl.obolibrary.org/obo/MONDO_0018631 Marie Unna hereditary hypotrichosis 'Marie Unna hereditary hypotrichosis' SubClassOf 'alopecia' 'Marie Unna hereditary hypotrichosis' SubClassOf 'hypotrichosis' http://purl.obolibrary.org/obo/MONDO_0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 'Ehlers-Danlos syndrome, kyphoscoliotic type 1' SubClassOf 'hereditary disorder of connective tissue' http://purl.obolibrary.org/obo/MONDO_0016027 benign neonatal seizures 'benign neonatal seizures' SubClassOf 'genetic disorder' 'benign neonatal seizures' SubClassOf 'monogenic epilepsy' http://purl.obolibrary.org/obo/MONDO_0016022 early myoclonic encephalopathy 'early myoclonic encephalopathy' SubClassOf 'monogenic epilepsy' http://purl.obolibrary.org/obo/MONDO_0016025 myoclonic-astastic epilepsy 'myoclonic-astastic epilepsy' SubClassOf 'monogenic epilepsy' http://purl.obolibrary.org/obo/MONDO_0018681 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome 'neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0016033 Cornelia de Lange syndrome 'Cornelia de Lange syndrome' SubClassOf 'congenital nervous system disorder' 'Cornelia de Lange syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0016065 cleft palate-short stature-vertebral anomalies syndrome 'cleft palate-short stature-vertebral anomalies syndrome' SubClassOf 'congenital nervous system disorder' 'cleft palate-short stature-vertebral anomalies syndrome' SubClassOf 'syndromic intellectual disability' http://www.ebi.ac.uk/efo/EFO_1000886 cutaneous mastocytosis 'cutaneous mastocytosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://purl.obolibrary.org/obo/MONDO_0018565 congenital urachal anomaly 'congenital urachal anomaly' SubClassOf 'non-syndromic urogenital tract malformation of male and female' http://purl.obolibrary.org/obo/MONDO_0018575 microcephalic primordial dwarfism-insulin resistance syndrome 'microcephalic primordial dwarfism-insulin resistance syndrome' SubClassOf 'inborn errors of metabolism' 'microcephalic primordial dwarfism-insulin resistance syndrome' SubClassOf 'diabetes mellitus' http://www.ebi.ac.uk/efo/EFO_1000808 anterior compartment syndrome 'anterior compartment syndrome' SubClassOf 'muscular disease' 'anterior compartment syndrome' SubClassOf 'muscular disease' 'anterior compartment syndrome' SubClassOf 'muscle tissue disorder' http://purl.obolibrary.org/obo/MONDO_0018446 autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome 'autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0018443 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome 'FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome' SubClassOf 'syndromic intellectual disability' 'FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0043424 digestive system infectious disorder 'digestive system infectious disorder' SubClassOf 'digestive system disease' http://www.ebi.ac.uk/efo/EFO_1000941 frozen shoulder 'frozen shoulder' SubClassOf 'muscular disease' 'frozen shoulder' SubClassOf 'muscle tissue disorder' 'frozen shoulder' SubClassOf 'muscular disease' http://purl.obolibrary.org/obo/MONDO_0008907 PMM2-congenital disorder of glycosylation 'PMM2-congenital disorder of glycosylation' SubClassOf 'skin disease' http://www.orpha.net/ORDO/Orphanet_300359 PLCG2-associated antibody deficiency and immune dysregulation 'PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://purl.obolibrary.org/obo/MONDO_0008941 hepatic fibrosis-renal cysts-intellectual disability syndrome 'hepatic fibrosis-renal cysts-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'hepatic fibrosis-renal cysts-intellectual disability syndrome' SubClassOf 'material entity' 'hepatic fibrosis-renal cysts-intellectual disability syndrome' SubClassOf 'disease' http://purl.obolibrary.org/obo/MONDO_0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome 'Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008999 Cohen syndrome 'Cohen syndrome' SubClassOf 'syndromic intellectual disability' 'Cohen syndrome' SubClassOf 'syndromic intellectual disability' http://www.ebi.ac.uk/efo/EFO_1000653 sarcopenia 'sarcopenia' SubClassOf 'muscular disease' 'sarcopenia' SubClassOf 'muscle tissue disorder' 'sarcopenia' SubClassOf 'muscular disease' http://purl.obolibrary.org/obo/MONDO_0018320 primary microcephaly-mild intellectual disability-young-onset diabetes syndrome 'primary microcephaly-mild intellectual disability-young-onset diabetes syndrome' SubClassOf 'diabetes mellitus' 'primary microcephaly-mild intellectual disability-young-onset diabetes syndrome' SubClassOf 'syndromic intellectual disability' 'primary microcephaly-mild intellectual disability-young-onset diabetes syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_1000686 dermatosis papulosa nigra 'dermatosis papulosa nigra' SubClassOf 'genetic disorder' 'dermatosis papulosa nigra' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://purl.obolibrary.org/obo/MONDO_0008812 AREDYLD syndrome 'AREDYLD syndrome' SubClassOf 'inborn errors of metabolism' 'AREDYLD syndrome' SubClassOf 'diabetes mellitus' http://purl.obolibrary.org/obo/MONDO_0008840 ataxia telangiectasia 'ataxia telangiectasia' SubClassOf 'neurocutaneous syndrome' 'ataxia telangiectasia' SubClassOf 'skin vascular disease' 'ataxia telangiectasia' SubClassOf 'neurovascular disorder' http://www.ebi.ac.uk/efo/EFO_1000757 porokeratosis 'porokeratosis' SubClassOf 'genetic disorder' 'porokeratosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://purl.obolibrary.org/obo/MONDO_0008864 Biemond syndrome type 2 'Biemond syndrome type 2' SubClassOf 'congenital nervous system disorder' 'Biemond syndrome type 2' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008879 Bowen-Conradi syndrome 'Bowen-Conradi syndrome' SubClassOf 'congenital nervous system disorder' 'Bowen-Conradi syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008872 microcephalic osteodysplastic primordial dwarfism type II 'microcephalic osteodysplastic primordial dwarfism type II' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0008885 Elsahy-Waters syndrome 'Elsahy-Waters syndrome' SubClassOf 'congenital nervous system disorder' 'Elsahy-Waters syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0018205 distal monosomy 1q 'distal monosomy 1q' SubClassOf 'syndromic intellectual disability' http://www.ebi.ac.uk/efo/EFO_1000796 adrenal cortex carcinoma 'adrenal cortex carcinoma' SubClassOf 'adrenal/paraganglial tumor' http://purl.obolibrary.org/obo/MONDO_0008894 cataract-hypertrichosis-intellectual disability syndrome 'cataract-hypertrichosis-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0018214 generalized epilepsy with febrile seizures plus 'generalized epilepsy with febrile seizures plus' SubClassOf 'epilepsy' 'generalized epilepsy with febrile seizures plus' SubClassOf 'genetic disorder' 'generalized epilepsy with febrile seizures plus' SubClassOf 'monogenic epilepsy' http://purl.obolibrary.org/obo/MONDO_0018222 X-linked intellectual disability due to GRIA3 anomalies 'X-linked intellectual disability due to GRIA3 anomalies' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability due to GRIA3 anomalies' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0018248 intellectual disability-seizures-macrocephaly-obesity syndrome 'intellectual disability-seizures-macrocephaly-obesity syndrome' SubClassOf 'syndromic intellectual disability' 'intellectual disability-seizures-macrocephaly-obesity syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0018243 intellectual disability-hyperkinetic movement-truncal ataxia syndrome 'intellectual disability-hyperkinetic movement-truncal ataxia syndrome' SubClassOf 'syndromic intellectual disability' 'intellectual disability-hyperkinetic movement-truncal ataxia syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0018253 intellectual disability-facial dysmorphism-hand anomalies syndrome 'intellectual disability-facial dysmorphism-hand anomalies syndrome' SubClassOf 'congenital nervous system disorder' 'intellectual disability-facial dysmorphism-hand anomalies syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0018274 GM3 synthase deficiency 'GM3 synthase deficiency' SubClassOf 'skin pigmentation disorder' http://www.ebi.ac.uk/efo/EFO_1000708 hereditary papulotranslucent acrokeratoderma 'hereditary papulotranslucent acrokeratoderma' SubClassOf 'genetic disorder' 'hereditary papulotranslucent acrokeratoderma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://www.ebi.ac.uk/efo/EFO_1000711 hyperpigmentation of eyelid 'hyperpigmentation of eyelid' SubClassOf 'genetic disorder' 'hyperpigmentation of eyelid' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://www.ebi.ac.uk/efo/EFO_1000721 kernicterus due to isoimmunization 'kernicterus due to isoimmunization' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://www.ebi.ac.uk/efo/EFO_1000498 Prostate Rhabdomyosarcoma 'Prostate Rhabdomyosarcoma' SubClassOf 'muscular disease' http://purl.obolibrary.org/obo/MONDO_0008708 acrocallosal syndrome 'acrocallosal syndrome' SubClassOf 'congenital nervous system disorder' 'acrocallosal syndrome' SubClassOf 'syndromic intellectual disability' 'acrocallosal syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0008716 acrogeria 'acrogeria' SubClassOf 'genetic disorder' 'acrogeria' SubClassOf 'skin disease' 'acrogeria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://purl.obolibrary.org/obo/MONDO_0008714 acrofacial dysostosis Rodriguez type 'acrofacial dysostosis Rodriguez type' SubClassOf 'syndromic intellectual disability' 'acrofacial dysostosis Rodriguez type' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0008713 acrodermatitis enteropathica 'acrodermatitis enteropathica' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0008743 Stimmler syndrome 'Stimmler syndrome' SubClassOf 'congenital nervous system disorder' 'Stimmler syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008740 agnathia-otocephaly complex 'agnathia-otocephaly complex' SubClassOf 'syndromic intellectual disability' 'agnathia-otocephaly complex' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0008759 oxoglutaricaciduria 'oxoglutaricaciduria' SubClassOf 'monogenic epilepsy' http://purl.obolibrary.org/obo/MONDO_0008758 mitochondrial DNA depletion syndrome 4a 'mitochondrial DNA depletion syndrome 4a' SubClassOf 'monogenic epilepsy' http://purl.obolibrary.org/obo/MONDO_0008755 Moynahan syndrome 'Moynahan syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008754 alopecia - contractures - dwarfism - intellectual disability syndrome 'alopecia - contractures - dwarfism - intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008753 alkaptonuria 'alkaptonuria' SubClassOf 'pigmented conjunctival lesion' 'alkaptonuria' SubClassOf 'skin disease' 'alkaptonuria' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0008796 aniridia-renal agenesis-psychomotor retardation syndrome 'aniridia-renal agenesis-psychomotor retardation syndrome' SubClassOf 'congenital nervous system disorder' 'aniridia-renal agenesis-psychomotor retardation syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008795 aniridia-cerebellar ataxia-intellectual disability syndrome 'aniridia-cerebellar ataxia-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008791 anencephaly 1 'anencephaly 1' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0018123 intellectual disability-obesity-brain malformations-facial dysmorphism syndrome 'intellectual disability-obesity-brain malformations-facial dysmorphism syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0018168 primary non-essential cutis verticis gyrata 'primary non-essential cutis verticis gyrata' SubClassOf 'syndromic intellectual disability' 'primary non-essential cutis verticis gyrata' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_1000525 Simple Endometrial Hyperplasia 'Simple Endometrial Hyperplasia' SubClassOf 'endometrial hyperplasia' 'Simple Endometrial Hyperplasia' SubClassOf 'female reproductive system disease' http://purl.obolibrary.org/obo/MONDO_0008648 ventricular tachycardia, familial 'ventricular tachycardia, familial' SubClassOf 'genetic cardiac rhythm disease' 'ventricular tachycardia, familial' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008678 Williams syndrome 'Williams syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008684 Wolf-Hirschhorn syndrome 'Wolf-Hirschhorn syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008696 acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome 'acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome' SubClassOf 'diabetes mellitus' http://purl.obolibrary.org/obo/MONDO_0008695 chorea-acanthocytosis 'chorea-acanthocytosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://purl.obolibrary.org/obo/MONDO_0008694 pseudoprogeria syndrome 'pseudoprogeria syndrome' SubClassOf 'congenital nervous system disorder' 'pseudoprogeria syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0021681 sexually transmitted disease 'sexually transmitted disease' SubClassOf 'reproductive system disease' http://purl.obolibrary.org/obo/MONDO_0018054 familial atrial fibrillation 'familial atrial fibrillation' SubClassOf 'genetic cardiac rhythm disease' 'familial atrial fibrillation' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0043003 familial acanthosis nigricans 'familial acanthosis nigricans' SubClassOf 'genetic disorder' 'familial acanthosis nigricans' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://purl.obolibrary.org/obo/MONDO_0018094 Waardenburg syndrome 'Waardenburg syndrome' SubClassOf 'neuro-ophthalmological disease' 'Waardenburg syndrome' SubClassOf 'hypopigmentation of the skin' http://purl.obolibrary.org/obo/MONDO_0018095 Weaver-Williams syndrome 'Weaver-Williams syndrome' SubClassOf 'syndromic intellectual disability' 'Weaver-Williams syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0018091 microcephaly-brachydactyly-kyphoscoliosis syndrome 'microcephaly-brachydactyly-kyphoscoliosis syndrome' SubClassOf 'congenital nervous system disorder' 'microcephaly-brachydactyly-kyphoscoliosis syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0018097 West syndrome 'West syndrome' SubClassOf 'syndromic intellectual disability' 'West syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0016980 ATR-X-related syndrome 'ATR-X-related syndrome' SubClassOf 'syndromic disease' 'ATR-X-related syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0016981 infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome 'infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014320 Bosch-Boonstra-Schaaf optic atrophy syndrome 'Bosch-Boonstra-Schaaf optic atrophy syndrome' SubClassOf 'syndromic intellectual disability' 'Bosch-Boonstra-Schaaf optic atrophy syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014336 intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 'intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency' SubClassOf 'congenital nervous system disorder' 'intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency' SubClassOf 'syndromic intellectual disability' 'intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency' SubClassOf 'intellectual disability, autosomal dominant' 'intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0014361 autism spectrum disorder due to AUTS2 deficiency 'autism spectrum disorder due to AUTS2 deficiency' SubClassOf 'syndromic intellectual disability' 'autism spectrum disorder due to AUTS2 deficiency' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014379 ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 'ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder' SubClassOf 'syndromic intellectual disability' 'ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014382 tall stature-intellectual disability-facial dysmorphism syndrome 'tall stature-intellectual disability-facial dysmorphism syndrome' SubClassOf 'syndromic intellectual disability' 'tall stature-intellectual disability-facial dysmorphism syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0014419 ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 'ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014413 orofaciodigital syndrome type 14 'orofaciodigital syndrome type 14' SubClassOf 'congenital nervous system disorder' 'orofaciodigital syndrome type 14' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014205 severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 'severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome' SubClassOf 'congenital nervous system disorder' 'severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014213 intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome 'intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf 'syndromic intellectual disability' 'intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014218 severe dermatitis-multiple allergies-metabolic wasting syndrome 'severe dermatitis-multiple allergies-metabolic wasting syndrome' SubClassOf 'epidermal disease' http://purl.obolibrary.org/obo/MONDO_0014210 intellectual disability-hypotonia-spasticity-sleep disorder syndrome 'intellectual disability-hypotonia-spasticity-sleep disorder syndrome' SubClassOf 'syndromic intellectual disability' 'intellectual disability-hypotonia-spasticity-sleep disorder syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014224 developmental delay with autism spectrum disorder and gait instability 'developmental delay with autism spectrum disorder and gait instability' SubClassOf 'syndromic intellectual disability' 'developmental delay with autism spectrum disorder and gait instability' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0014238 severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome 'severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome' SubClassOf 'congenital nervous system disorder' 'severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014273 microcephaly-thin corpus callosum-intellectual disability syndrome 'microcephaly-thin corpus callosum-intellectual disability syndrome' SubClassOf 'congenital nervous system disorder' 'microcephaly-thin corpus callosum-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014289 macrocephaly-developmental delay syndrome 'macrocephaly-developmental delay syndrome' SubClassOf 'syndromic intellectual disability' 'macrocephaly-developmental delay syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/EFO_0700003 BD Rhapsody Whole Transcriptome Analysis 'BD Rhapsody Whole Transcriptome Analysis' SubClassOf 'single-cell RNA sequencing' 'BD Rhapsody Whole Transcriptome Analysis' SubClassOf 'single cell library construction' http://purl.obolibrary.org/obo/EFO_0700004 BD Rhapsody Targeted mRNA 'BD Rhapsody Targeted mRNA' SubClassOf 'single-cell RNA sequencing' 'BD Rhapsody Targeted mRNA' SubClassOf 'single cell library construction' http://purl.obolibrary.org/obo/MONDO_0016750 microcephaly-cleft palate syndrome 'microcephaly-cleft palate syndrome' SubClassOf 'syndromic intellectual disability' 'microcephaly-cleft palate syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0016760 microcephaly-microcornea syndrome, Seemanova type 'microcephaly-microcornea syndrome, Seemanova type' SubClassOf 'syndromic intellectual disability' 'microcephaly-microcornea syndrome, Seemanova type' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0016779 multiple congenital anomalies due to 14q32.2 maternally expressed gene defect 'multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' SubClassOf 'congenital nervous system disorder' 'multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014119 intellectual disability-strabismus syndrome 'intellectual disability-strabismus syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014131 hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome 'hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014165 multiple congenital anomalies-hypotonia-seizures syndrome 3 'multiple congenital anomalies-hypotonia-seizures syndrome 3' SubClassOf 'syndromic dyslipidemia' 'multiple congenital anomalies-hypotonia-seizures syndrome 3' SubClassOf 'syndromic intellectual disability' 'multiple congenital anomalies-hypotonia-seizures syndrome 3' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0014176 hypotonia, infantile, with psychomotor retardation and characteristic facies 'hypotonia, infantile, with psychomotor retardation and characteristic facies' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014196 Hartsfield-Bixler-Demyer syndrome 'Hartsfield-Bixler-Demyer syndrome' SubClassOf 'syndromic intellectual disability' 'Hartsfield-Bixler-Demyer syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_89844 Lissencephaly syndrome, Norman-Roberts type 'Lissencephaly syndrome, Norman-Roberts type' SubClassOf 'skin disease' 'Lissencephaly syndrome, Norman-Roberts type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://purl.obolibrary.org/obo/MONDO_0016827 myopathy-growth delay-intellectual disability-hypospadias syndrome 'myopathy-growth delay-intellectual disability-hypospadias syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0016821 shoulder and girdle defects-familial intellectual disability syndrome 'shoulder and girdle defects-familial intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'shoulder and girdle defects-familial intellectual disability syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0014006 Schuurs-Hoeijmakers syndrome 'Schuurs-Hoeijmakers syndrome' SubClassOf 'syndromic intellectual disability' 'Schuurs-Hoeijmakers syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014035 severe intellectual disability-progressive spastic diplegia syndrome 'severe intellectual disability-progressive spastic diplegia syndrome' SubClassOf 'syndromic intellectual disability' 'severe intellectual disability-progressive spastic diplegia syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014034 severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 'severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome' SubClassOf 'syndromic intellectual disability' 'severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014043 microcephalic primordial dwarfism due to ZNF335 deficiency 'microcephalic primordial dwarfism due to ZNF335 deficiency' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0014067 short ulna-dysmorphism-hypotonia-intellectual disability syndrome 'short ulna-dysmorphism-hypotonia-intellectual disability syndrome' SubClassOf 'congenital nervous system disorder' 'short ulna-dysmorphism-hypotonia-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' http://www.ebi.ac.uk/efo/EFO_0005304 atrial conduction disease 'atrial conduction disease' SubClassOf 'genetic cardiac rhythm disease' http://www.ebi.ac.uk/efo/EFO_0005305 atrioventricular node disease 'atrioventricular node disease' SubClassOf 'muscular disease' http://purl.obolibrary.org/obo/MONDO_0016719 microcephaly-seizures-intellectual disability-heart disease syndrome 'microcephaly-seizures-intellectual disability-heart disease syndrome' SubClassOf 'syndromic intellectual disability' 'microcephaly-seizures-intellectual disability-heart disease syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0016512 Kabuki syndrome 'Kabuki syndrome' SubClassOf 'syndromic anorectal malformation' 'Kabuki syndrome' SubClassOf 'syndromic diaphragmatic or abdominal wall malformation' 'Kabuki syndrome' SubClassOf 'congenital ectropion' 'Kabuki syndrome' SubClassOf 'congenital nervous system disorder' 'Kabuki syndrome' SubClassOf 'congenital entropion' 'Kabuki syndrome' SubClassOf 'syndromic intellectual disability' 'Kabuki syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0016529 duplication of urethra 'duplication of urethra' SubClassOf 'non-syndromic urogenital tract malformation of male and female' http://purl.obolibrary.org/obo/MONDO_0016560 ptosis-syndactyly-learning difficulties syndrome 'ptosis-syndactyly-learning difficulties syndrome' SubClassOf 'congenital nervous system disorder' 'ptosis-syndactyly-learning difficulties syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0016596 hyperphosphatasia-intellectual disability syndrome 'hyperphosphatasia-intellectual disability syndrome' SubClassOf 'syndromic dyslipidemia' 'hyperphosphatasia-intellectual disability syndrome' SubClassOf 'congenital nervous system disorder' 'hyperphosphatasia-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0016414 hypotrichosis-intellectual disability, Lopes type 'hypotrichosis-intellectual disability, Lopes type' SubClassOf 'syndromic intellectual disability' 'hypotrichosis-intellectual disability, Lopes type' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0016424 progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome 'progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome' SubClassOf 'familial hypertrophic cardiomyopathy' 'progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome' SubClassOf 'genetic cardiac rhythm disease' 'progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome' SubClassOf 'hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0016433 dysmorphism-short stature-deafness-disorder of sex development syndrome 'dysmorphism-short stature-deafness-disorder of sex development syndrome' SubClassOf 'syndromic intellectual disability' 'dysmorphism-short stature-deafness-disorder of sex development syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0016464 insulin-resistance syndrome type B 'insulin-resistance syndrome type B' SubClassOf 'diabetes mellitus' 'insulin-resistance syndrome type B' SubClassOf 'endocrine pancreas disorder' http://purl.obolibrary.org/obo/MONDO_0100237 inherited cutis laxa 'inherited cutis laxa' SubClassOf 'genetic disorder' 'inherited cutis laxa' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://purl.obolibrary.org/obo/MONDO_0100336 infectious disease or post-infectious disorder 'infectious disease or post-infectious disorder' SubClassOf 'disease' 'infectious disease or post-infectious disorder' SubClassOf 'disease' http://www.ebi.ac.uk/efo/EFO_0005584 seborrheic keratosis 'seborrheic keratosis' SubClassOf 'genetic disorder' 'seborrheic keratosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://purl.obolibrary.org/obo/MONDO_0018960 congenital primary megaureter 'congenital primary megaureter' SubClassOf 'non-syndromic urogenital tract malformation of male and female' http://purl.obolibrary.org/obo/MONDO_0016354 xeroderma pigmentosum-Cockayne syndrome complex 'xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0016377 Pitt-Hopkins-like syndrome 'Pitt-Hopkins-like syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0016391 neonatal diabetes mellitus 'neonatal diabetes mellitus' SubClassOf 'material entity' 'neonatal diabetes mellitus' SubClassOf 'diabetes mellitus' 'neonatal diabetes mellitus' SubClassOf 'monogenic diabetes' http://purl.obolibrary.org/obo/MONDO_0100146 ATP6AP2-related disorder 'ATP6AP2-related disorder' SubClassOf 'X-linked syndromic intellectual disability' 'ATP6AP2-related disorder' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0100124 NAA10-related syndrome 'NAA10-related syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'NAA10-related syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://www.ebi.ac.uk/efo/EFO_0005917 generalised epilepsy 'generalised epilepsy' SubClassOf 'epilepsy' 'generalised epilepsy' SubClassOf 'genetic disorder' 'generalised epilepsy' SubClassOf 'monogenic epilepsy' http://purl.obolibrary.org/obo/MONDO_0018827 familial chilblain lupus 'familial chilblain lupus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://purl.obolibrary.org/obo/MONDO_0018820 recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome 'recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome' SubClassOf 'genetic cardiac rhythm disease' 'recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018838 lissencephaly spectrum disorders 'lissencephaly spectrum disorders' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0018860 microlissencephaly-micromelia syndrome 'microlissencephaly-micromelia syndrome' SubClassOf 'syndromic intellectual disability' 'microlissencephaly-micromelia syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0018898 primary cutaneous lymphoma 'primary cutaneous lymphoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://purl.obolibrary.org/obo/MONDO_0100039 CDKL5 disorder 'CDKL5 disorder' SubClassOf 'genetic disorder' 'CDKL5 disorder' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0100040 FOXG1 disorder 'FOXG1 disorder' SubClassOf 'syndromic intellectual disability' 'FOXG1 disorder' SubClassOf 'motor stereotypies' http://purl.obolibrary.org/obo/MONDO_0016256 Hennekam syndrome 'Hennekam syndrome' SubClassOf 'neurovascular disorder' 'Hennekam syndrome' SubClassOf 'congenital nervous system disorder' 'Hennekam syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0016290 Hernández-Aguirre Negrete syndrome 'Hernández-Aguirre Negrete syndrome' SubClassOf 'syndromic intellectual disability' 'Hernández-Aguirre Negrete syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0016292 nodular neuronal heterotopia 'nodular neuronal heterotopia' SubClassOf 'syndromic intellectual disability' 'nodular neuronal heterotopia' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0100000 MED12-related intellectual disability syndrome 'MED12-related intellectual disability syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'MED12-related intellectual disability syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0016296 holoprosencephaly 'holoprosencephaly' SubClassOf 'syndromic intellectual disability' 'holoprosencephaly' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0003103 urinary tract infection 'urinary tract infection' SubClassOf 'urinary system disease' http://purl.obolibrary.org/obo/MONDO_0018911 maturity-onset diabetes of the young 'maturity-onset diabetes of the young' SubClassOf 'diabetes mellitus' 'maturity-onset diabetes of the young' SubClassOf 'monogenic diabetes' http://purl.obolibrary.org/obo/MONDO_0018910 oculocutaneous albinism 'oculocutaneous albinism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://www.ebi.ac.uk/efo/EFO_0020005 pheochromocytoma-paraganglioma 'pheochromocytoma-paraganglioma' SubClassOf 'adrenal/paraganglial tumor' 'pheochromocytoma-paraganglioma' SubClassOf 'adrenal gland neoplasm' http://www.orpha.net/ORDO/Orphanet_99807 PEHO-like syndrome 'PEHO-like syndrome' SubClassOf 'skin disease' 'PEHO-like syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://purl.obolibrary.org/obo/MONDO_0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy 'polyhydramnios, megalencephaly, and symptomatic epilepsy' SubClassOf 'genetic disorder' 'polyhydramnios, megalencephaly, and symptomatic epilepsy' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0012638 microphthalmia-brain atrophy syndrome 'microphthalmia-brain atrophy syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010007 microbrachycephaly-ptosis-cleft lip syndrome 'microbrachycephaly-ptosis-cleft lip syndrome' SubClassOf 'congenital nervous system disorder' 'microbrachycephaly-ptosis-cleft lip syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0012669 Legius syndrome 'Legius syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://purl.obolibrary.org/obo/MONDO_0009011 constriction rings syndrome 'constriction rings syndrome' SubClassOf 'amniotic band syndrome' 'constriction rings syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0009026 Costello syndrome 'Costello syndrome' SubClassOf 'intellectual disability, autosomal dominant' 'Costello syndrome' SubClassOf 'dermis elastic tissue disorder' 'Costello syndrome' SubClassOf 'syndromic intellectual disability' 'Costello syndrome' SubClassOf 'congenital nervous system disorder' 'Costello syndrome' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0009024 cortical blindness-intellectual disability-polydactyly syndrome 'cortical blindness-intellectual disability-polydactyly syndrome' SubClassOf 'syndromic intellectual disability' 'cortical blindness-intellectual disability-polydactyly syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0010010 Schinzel-Giedion syndrome 'Schinzel-Giedion syndrome' SubClassOf 'syndromic intellectual disability' 'Schinzel-Giedion syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009036 cardiocranial syndrome, Pfeiffer type 'cardiocranial syndrome, Pfeiffer type' SubClassOf 'congenital nervous system disorder' 'cardiocranial syndrome, Pfeiffer type' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009033 temtamy syndrome 'temtamy syndrome' SubClassOf 'syndromic intellectual disability' 'temtamy syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0010026 SHORT syndrome 'SHORT syndrome' SubClassOf 'diabetes mellitus' http://purl.obolibrary.org/obo/MONDO_0010039 congenital heart defect-round face-developmental delay syndrome 'congenital heart defect-round face-developmental delay syndrome' SubClassOf 'congenital nervous system disorder' 'congenital heart defect-round face-developmental delay syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009045 cataract-nephropathy-encephalopathy syndrome 'cataract-nephropathy-encephalopathy syndrome' SubClassOf 'syndromic intellectual disability' 'cataract-nephropathy-encephalopathy syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010049 spastic paraplegia-glaucoma-intellectual disability syndrome 'spastic paraplegia-glaucoma-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009074 facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome 'facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010051 spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome 'spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010069 spondylocostal dysostosis-anal and genitourinary malformations syndrome 'spondylocostal dysostosis-anal and genitourinary malformations syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010073 spondyloepiphyseal dysplasia tarda, Kohn type 'spondyloepiphyseal dysplasia tarda, Kohn type' SubClassOf 'syndromic intellectual disability' http://www.ebi.ac.uk/efo/EFO_0010580 blastic plasmacytoid dendritic cell neoplasm 'blastic plasmacytoid dendritic cell neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://purl.obolibrary.org/obo/MONDO_0012508 agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome 'agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome' SubClassOf 'syndromic intellectual disability' 'agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome' SubClassOf 'congenital nervous system disorder' 'agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0012516 mandibulofacial dysostosis-microcephaly syndrome 'mandibulofacial dysostosis-microcephaly syndrome' SubClassOf 'syndromic intellectual disability' 'mandibulofacial dysostosis-microcephaly syndrome' SubClassOf 'intellectual disability, autosomal dominant' 'mandibulofacial dysostosis-microcephaly syndrome' SubClassOf 'congenital nervous system disorder' 'mandibulofacial dysostosis-microcephaly syndrome' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0012514 hypomyelinating leukodystrophy 5 'hypomyelinating leukodystrophy 5' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0012520 insulin-resistance syndrome type A 'insulin-resistance syndrome type A' SubClassOf 'diabetes mellitus' 'insulin-resistance syndrome type A' SubClassOf 'endocrine pancreas disorder' http://purl.obolibrary.org/obo/MONDO_0024516 familial acne inversa 'familial acne inversa' SubClassOf 'genetic disorder' 'familial acne inversa' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://www.ebi.ac.uk/efo/EFO_1002028 cicatricial alopecia 'cicatricial alopecia' SubClassOf 'skin disease' 'cicatricial alopecia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://purl.obolibrary.org/obo/MONDO_0012574 Potocki-Lupski syndrome 'Potocki-Lupski syndrome' SubClassOf 'syndromic intellectual disability' 'Potocki-Lupski syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0012589 Pitt-Hopkins syndrome 'Pitt-Hopkins syndrome' SubClassOf 'syndromic intellectual disability' 'Pitt-Hopkins syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0012593 brain-lung-thyroid syndrome 'brain-lung-thyroid syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0012399 complex cortical dysplasia with other brain malformations 7 'complex cortical dysplasia with other brain malformations 7' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant 'neuronal ceroid lipofuscinosis 8 northern epilepsy variant' SubClassOf 'monogenic epilepsy' http://www.ebi.ac.uk/efo/EFO_0007235 Dictyocaulus infectious disease 'Dictyocaulus infectious disease' SubClassOf 'helminthiasis, animal' 'Dictyocaulus infectious disease' SubClassOf 'trichostrongyloidiasis' 'Dictyocaulus infectious disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700204 http://www.ebi.ac.uk/efo/EFO_0007233 diaphragm disease 'diaphragm disease' SubClassOf 'muscular disease' http://www.ebi.ac.uk/efo/EFO_0007263 equine infectious anemia 'equine infectious anemia' SubClassOf 'viral disease' 'equine infectious anemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700053 'equine infectious anemia' SubClassOf 'viral disease' http://www.ebi.ac.uk/efo/EFO_0007277 foot and mouth disease 'foot and mouth disease' SubClassOf 'viral disease' 'foot and mouth disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700053 http://www.ebi.ac.uk/efo/EFO_0007280 gastrointestinal tuberculosis 'gastrointestinal tuberculosis' SubClassOf 'digestive system disease' http://purl.obolibrary.org/obo/MONDO_0012407 pyridoxal phosphate-responsive seizures 'pyridoxal phosphate-responsive seizures' SubClassOf 'monogenic epilepsy' http://purl.obolibrary.org/obo/MONDO_0012400 cortical dysplasia-focal epilepsy syndrome 'cortical dysplasia-focal epilepsy syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0000425 X-linked disease 'X-linked disease' SubClassOf 'sex-linked disease' 'X-linked disease' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0000456 cerebral creatine deficiency syndrome 'cerebral creatine deficiency syndrome' SubClassOf 'monogenic epilepsy' http://purl.obolibrary.org/obo/MONDO_0000468 third-degree atrioventricular block 'third-degree atrioventricular block' SubClassOf 'genetic cardiac rhythm disease' 'third-degree atrioventricular block' SubClassOf 'cardiac rhythm disease' http://purl.obolibrary.org/obo/MONDO_0012455 Kleefstra syndrome 'Kleefstra syndrome' SubClassOf 'syndromic intellectual disability' 'Kleefstra syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0024252 global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome 'global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0012280 Goldberg-Shprintzen megacolon syndrome 'Goldberg-Shprintzen megacolon syndrome' SubClassOf 'congenital nervous system disorder' 'Goldberg-Shprintzen megacolon syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0012290 CEDNIK syndrome 'CEDNIK syndrome' SubClassOf 'syndromic intellectual disability' http://www.ebi.ac.uk/efo/EFO_0007169 biliary dyskinesia 'biliary dyskinesia' SubClassOf 'muscular disease' http://www.ebi.ac.uk/efo/EFO_0007183 bronchiolitis obliterans 'bronchiolitis obliterans' SubClassOf 'pneumonia' http://www.ebi.ac.uk/efo/EFO_0007181 bovine virus diarrhea-mucosal disease 'bovine virus diarrhea-mucosal disease' SubClassOf 'Pestivirus infectious disease' 'bovine virus diarrhea-mucosal disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700203 http://www.ebi.ac.uk/efo/EFO_0007198 central nervous system AIDS arteritis 'central nervous system AIDS arteritis' SubClassOf 'reproductive system disease' http://www.orpha.net/ORDO/Orphanet_3226 Deafness - lymphedema - leukemia 'Deafness - lymphedema - leukemia' SubClassOf 'skin disease' 'Deafness - lymphedema - leukemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://purl.obolibrary.org/obo/MONDO_0014944 short stature-brachydactyly-obesity-global developmental delay syndrome 'short stature-brachydactyly-obesity-global developmental delay syndrome' SubClassOf 'syndromic genetic obesity' http://purl.obolibrary.org/obo/MONDO_0014953 gnb5-related intellectual disability-cardiac arrhythmia syndrome 'gnb5-related intellectual disability-cardiac arrhythmia syndrome' SubClassOf 'genetic cardiac rhythm disease' http://purl.obolibrary.org/obo/MONDO_0024355 respiratory tract infectious disorder 'respiratory tract infectious disorder' SubClassOf 'respiratory system disease' http://purl.obolibrary.org/obo/MONDO_0012143 hereditary cryohydrocytosis with reduced stomatin 'hereditary cryohydrocytosis with reduced stomatin' SubClassOf 'syndromic intellectual disability' 'hereditary cryohydrocytosis with reduced stomatin' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0700111 bacterial pneumonia, non-human animal 'bacterial pneumonia, non-human animal' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700050 http://purl.obolibrary.org/obo/MONDO_0700110 pneumonia, non-human animal 'pneumonia, non-human animal' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700049 http://purl.obolibrary.org/obo/MONDO_0000188 GLUT1 deficiency syndrome 'GLUT1 deficiency syndrome' SubClassOf 'monogenic epilepsy' http://www.ebi.ac.uk/efo/EFO_0007464 Reoviridae infectious disease 'Reoviridae infectious disease' SubClassOf 'primary viral infectious disease' 'Reoviridae infectious disease' SubClassOf 'viral disease' http://purl.obolibrary.org/obo/MONDO_0700109 skin disease caused by bacterial infection, non-human animal 'skin disease caused by bacterial infection, non-human animal' SubClassOf 'animal disease' 'skin disease caused by bacterial infection, non-human animal' SubClassOf 'infectious disease' 'skin disease caused by bacterial infection, non-human animal' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700050 http://purl.obolibrary.org/obo/MONDO_0700108 prion disease, non-human animal 'prion disease, non-human animal' SubClassOf 'animal disease' 'prion disease, non-human animal' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700049 http://purl.obolibrary.org/obo/MONDO_0012198 PCWH syndrome 'PCWH syndrome' SubClassOf 'leukodystrophy' 'PCWH syndrome' SubClassOf 'hypopigmentation of the skin' 'PCWH syndrome' SubClassOf 'eye degenerative disorder' 'PCWH syndrome' SubClassOf 'intestinal motility disease' 'PCWH syndrome' SubClassOf 'genetic peripheral neuropathy' 'PCWH syndrome' SubClassOf 'bearer_of' some 'rare' 'PCWH syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0007498 Stiff-Person syndrome 'Stiff-Person syndrome' SubClassOf 'diabetes mellitus' http://purl.obolibrary.org/obo/MONDO_0014805 Hao-Fountain syndrome 'Hao-Fountain syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014832 intellectual disability, autosomal recessive 53 'intellectual disability, autosomal recessive 53' SubClassOf 'syndromic intellectual disability' 'intellectual disability, autosomal recessive 53' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0012211 MPDU1-congenital disorder of glycosylation 'MPDU1-congenital disorder of glycosylation' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_0007407 oral tuberculosis 'oral tuberculosis' SubClassOf 'inflammatory disease' 'oral tuberculosis' SubClassOf 'mouth disease' http://purl.obolibrary.org/obo/MONDO_0000254 cutaneous mycosis 'cutaneous mycosis' SubClassOf 'integumentary system disease' http://purl.obolibrary.org/obo/MONDO_0014892 micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 'micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0012251 MEDNIK syndrome 'MEDNIK syndrome' SubClassOf 'syndromic intellectual disability' http://www.ebi.ac.uk/efo/EFO_0007328 influenza 'influenza' SubClassOf 'respiratory system disease' http://www.ebi.ac.uk/efo/EFO_0007327 infectious myxomatosis 'infectious myxomatosis' SubClassOf 'animal disease' 'infectious myxomatosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700053 http://www.ebi.ac.uk/efo/EFO_0007325 infectious ectromelia 'infectious ectromelia' SubClassOf 'animal disease' 'infectious ectromelia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700053 http://www.ebi.ac.uk/efo/EFO_0007312 HIV wasting syndrome 'HIV wasting syndrome' SubClassOf 'reproductive system disease' http://www.ebi.ac.uk/efo/EFO_0007348 louping ill 'louping ill' SubClassOf 'tick-borne infectious disease' 'louping ill' SubClassOf 'viral disease' 'louping ill' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700053 http://purl.obolibrary.org/obo/MONDO_0012061 familial sick sinus syndrome 'familial sick sinus syndrome' SubClassOf 'genetic cardiac rhythm disease' 'familial sick sinus syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012099 AICA-ribosiduria 'AICA-ribosiduria' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0012095 intellectual disability-brachydactyly-Pierre Robin syndrome 'intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf 'syndromic intellectual disability' 'intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0014725 spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome 'spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014731 seizures-scoliosis-macrocephaly syndrome 'seizures-scoliosis-macrocephaly syndrome' SubClassOf 'syndromic intellectual disability' 'seizures-scoliosis-macrocephaly syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0014732 hypomyelinating leukodystrophy 12 'hypomyelinating leukodystrophy 12' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0026730 Basilicata-Akhtar syndrome 'Basilicata-Akhtar syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Basilicata-Akhtar syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0026733 intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type 'intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type' SubClassOf 'X-linked syndromic intellectual disability' 'intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014746 SLC39A8-CDG 'SLC39A8-CDG' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014751 palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome 'palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome' SubClassOf 'congenital nervous system disorder' 'palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome 'macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome' SubClassOf 'neurovascular disorder' 'macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome' SubClassOf 'syndromic intellectual disability' 'macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0000118 reticulate pigment disorder 'reticulate pigment disorder' SubClassOf 'genetic disorder' 'reticulate pigment disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://purl.obolibrary.org/obo/MONDO_0014764 spastic paraplegia-severe developmental delay-epilepsy syndrome 'spastic paraplegia-severe developmental delay-epilepsy syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0000136 keratosis follicularis spinulosa decalvans 'keratosis follicularis spinulosa decalvans' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://purl.obolibrary.org/obo/MONDO_0014773 cardiac anomalies - developmental delay - facial dysmorphism syndrome 'cardiac anomalies - developmental delay - facial dysmorphism syndrome' SubClassOf 'syndromic intellectual disability' 'cardiac anomalies - developmental delay - facial dysmorphism syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014782 autosomal recessive limb-girdle muscular dystrophy type 2X 'autosomal recessive limb-girdle muscular dystrophy type 2X' SubClassOf 'genetic cardiac rhythm disease' http://purl.obolibrary.org/obo/MONDO_0014567 glutamate pyruvate transaminase 2 deficiency 'glutamate pyruvate transaminase 2 deficiency' SubClassOf 'syndromic intellectual disability' http://www.ebi.ac.uk/efo/EFO_0005045 visceral Leishmaniasis 'visceral Leishmaniasis' SubClassOf 'bearer_of' some 'inherited' 'visceral Leishmaniasis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 'intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome' SubClassOf 'syndromic intellectual disability' 'intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014601 autosomal recessive spinocerebellar ataxia 20 'autosomal recessive spinocerebellar ataxia 20' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014643 congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome 'congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0014658 severe achondroplasia-developmental delay-acanthosis nigricans syndrome 'severe achondroplasia-developmental delay-acanthosis nigricans syndrome' SubClassOf 'epidermal disease' http://purl.obolibrary.org/obo/MONDO_0014497 polyendocrine-polyneuropathy syndrome 'polyendocrine-polyneuropathy syndrome' SubClassOf 'syndromic intellectual disability' 'polyendocrine-polyneuropathy syndrome' SubClassOf 'diabetes mellitus' 'polyendocrine-polyneuropathy syndrome' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0014507 Catel-Manzke syndrome 'Catel-Manzke syndrome' SubClassOf 'congenital nervous system disorder' 'Catel-Manzke syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014506 hypomyelinating leukodystrophy 9 'hypomyelinating leukodystrophy 9' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014510 fatty acyl-CoA reductase 1 deficiency 'fatty acyl-CoA reductase 1 deficiency' SubClassOf 'syndromic dyslipidemia' 'fatty acyl-CoA reductase 1 deficiency' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014528 chronic atrial and intestinal dysrhythmia 'chronic atrial and intestinal dysrhythmia' SubClassOf 'genetic cardiac rhythm disease' 'chronic atrial and intestinal dysrhythmia' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect 'motor developmental delay due to 14q32.2 paternally expressed gene defect' SubClassOf 'syndromic intellectual disability' http://www.ebi.ac.uk/efo/EFO_0007539 viral hemorrhagic septicemia 'viral hemorrhagic septicemia' SubClassOf 'Rhabdoviridae infectious disease' 'viral hemorrhagic septicemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700072 http://purl.obolibrary.org/obo/MONDO_0014558 autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 'autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome' SubClassOf 'syndromic intellectual disability' 'autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009814 osteopenia-intellectual disability-sparse hair syndrome 'osteopenia-intellectual disability-sparse hair syndrome' SubClassOf 'syndromic intellectual disability' 'osteopenia-intellectual disability-sparse hair syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome 'pancreatic hypoplasia-diabetes-congenital heart disease syndrome' SubClassOf 'material entity' 'pancreatic hypoplasia-diabetes-congenital heart disease syndrome' SubClassOf 'diabetes mellitus' 'pancreatic hypoplasia-diabetes-congenital heart disease syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009820 osteoporosis-pseudoglioma syndrome 'osteoporosis-pseudoglioma syndrome' SubClassOf 'syndromic intellectual disability' 'osteoporosis-pseudoglioma syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010816 Qazi Markouizos syndrome 'Qazi Markouizos syndrome' SubClassOf 'syndromic intellectual disability' 'Qazi Markouizos syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010824 disorder of sex development-intellectual disability syndrome 'disorder of sex development-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'disorder of sex development-intellectual disability syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0010826 childhood absence epilepsy 'childhood absence epilepsy' SubClassOf 'genetic disorder' 'childhood absence epilepsy' SubClassOf 'monogenic epilepsy' http://purl.obolibrary.org/obo/MONDO_0009841 PEHO syndrome 'PEHO syndrome' SubClassOf 'monogenic epilepsy' http://purl.obolibrary.org/obo/MONDO_0010835 pterygium colli-intellectual disability-digital anomalies syndrome 'pterygium colli-intellectual disability-digital anomalies syndrome' SubClassOf 'congenital nervous system disorder' 'pterygium colli-intellectual disability-digital anomalies syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009858 Pfeiffer-Palm-Teller syndrome 'Pfeiffer-Palm-Teller syndrome' SubClassOf 'congenital nervous system disorder' 'Pfeiffer-Palm-Teller syndrome' SubClassOf 'syndromic intellectual disability' http://www.ebi.ac.uk/efo/EFO_1001511 monogenic diabetes 'monogenic diabetes' SubClassOf 'inborn errors of metabolism' 'monogenic diabetes' EquivalentTo 'diabetes mellitus' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0010840 pachygyria-intellectual disability-epilepsy syndrome 'pachygyria-intellectual disability-epilepsy syndrome' SubClassOf 'syndromic intellectual disability' 'pachygyria-intellectual disability-epilepsy syndrome' SubClassOf 'nervous system disease' 'pachygyria-intellectual disability-epilepsy syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0007203 blue rubber bleb nevus 'blue rubber bleb nevus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://purl.obolibrary.org/obo/MONDO_0007200 blepharonasofacial malformation syndrome 'blepharonasofacial malformation syndrome' SubClassOf 'congenital nervous system disorder' 'blepharonasofacial malformation syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010858 macrocephaly-spastic paraplegia-dysmorphism syndrome 'macrocephaly-spastic paraplegia-dysmorphism syndrome' SubClassOf 'syndromic intellectual disability' 'macrocephaly-spastic paraplegia-dysmorphism syndrome' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0010851 Lowry-MacLean syndrome 'Lowry-MacLean syndrome' SubClassOf 'syndromic intellectual disability' 'Lowry-MacLean syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0010865 pseudoaminopterin syndrome 'pseudoaminopterin syndrome' SubClassOf 'syndromic intellectual disability' 'pseudoaminopterin syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0009874 Rabson-Mendenhall syndrome 'Rabson-Mendenhall syndrome' SubClassOf 'diabetes mellitus' http://purl.obolibrary.org/obo/MONDO_0007212 brachydactyly-long thumb syndrome 'brachydactyly-long thumb syndrome' SubClassOf 'genetic cardiac rhythm disease' http://purl.obolibrary.org/obo/MONDO_0019207 DEND syndrome 'DEND syndrome' SubClassOf 'monogenic epilepsy' http://purl.obolibrary.org/obo/MONDO_0010890 acrocardiofacial syndrome 'acrocardiofacial syndrome' SubClassOf 'congenital nervous system disorder' 'acrocardiofacial syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010895 ABCD syndrome 'ABCD syndrome' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0019272 hereditary palmoplantar keratoderma 'hereditary palmoplantar keratoderma' SubClassOf 'genetic disorder' 'hereditary palmoplantar keratoderma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://purl.obolibrary.org/obo/MONDO_0019276 inherited epidermolysis bullosa 'inherited epidermolysis bullosa' SubClassOf 'genetic disorder' 'inherited epidermolysis bullosa' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://www.orpha.net/ORDO/Orphanet_2612 Linear nevus sebaceus syndrome 'Linear nevus sebaceus syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://purl.obolibrary.org/obo/MONDO_0010709 early-onset parkinsonism-intellectual disability syndrome 'early-onset parkinsonism-intellectual disability syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010714 Pelizaeus-Merzbacher disease 'Pelizaeus-Merzbacher disease' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010729 X-linked intellectual disability, Schimke type 'X-linked intellectual disability, Schimke type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Schimke type' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009740 neurofaciodigitorenal syndrome 'neurofaciodigitorenal syndrome' SubClassOf 'syndromic intellectual disability' 'neurofaciodigitorenal syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0009769 oculo-palato-cerebral syndrome 'oculo-palato-cerebral syndrome' SubClassOf 'congenital nervous system disorder' 'oculo-palato-cerebral syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007101 familial primary localized cutaneous amyloidosis 'familial primary localized cutaneous amyloidosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://www.ebi.ac.uk/efo/EFO_0001675 simian immunodeficiency virus infection 'simian immunodeficiency virus infection' SubClassOf 'Lentivirus Infections' 'simian immunodeficiency virus infection' SubClassOf 'viral disease' 'simian immunodeficiency virus infection' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700053 http://purl.obolibrary.org/obo/MONDO_0009777 Oliver syndrome 'Oliver syndrome' SubClassOf 'syndromic intellectual disability' 'Oliver syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0007113 Angelman syndrome 'Angelman syndrome' SubClassOf 'syndromic intellectual disability' 'Angelman syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009780 lethal omphalocele-cleft palate syndrome 'lethal omphalocele-cleft palate syndrome' SubClassOf 'syndromic intellectual disability' 'lethal omphalocele-cleft palate syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0010771 histiocytoid cardiomyopathy 'histiocytoid cardiomyopathy' SubClassOf 'genetic cardiac rhythm disease' http://purl.obolibrary.org/obo/MONDO_0010773 myopathy and diabetes mellitus 'myopathy and diabetes mellitus' SubClassOf 'diabetes mellitus' 'myopathy and diabetes mellitus' SubClassOf 'monogenic diabetes' http://purl.obolibrary.org/obo/MONDO_0009798 intellectual disability-cataracts-calcified pinnae-myopathy syndrome 'intellectual disability-cataracts-calcified pinnae-myopathy syndrome' SubClassOf 'syndromic intellectual disability' 'intellectual disability-cataracts-calcified pinnae-myopathy syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009794 orofaciodigital syndrome IV 'orofaciodigital syndrome IV' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009793 orofaciodigital syndrome III 'orofaciodigital syndrome III' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0020119 X-linked syndromic intellectual disability 'X-linked syndromic intellectual disability' SubClassOf 'syndromic intellectual disability' 'X-linked syndromic intellectual disability' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010785 maternally-inherited diabetes and deafness 'maternally-inherited diabetes and deafness' SubClassOf 'diabetes mellitus' 'maternally-inherited diabetes and deafness' SubClassOf 'monogenic diabetes' http://purl.obolibrary.org/obo/MONDO_0007143 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome 'aortic arch anomaly-facial dysmorphism-intellectual disability syndrome' SubClassOf 'congenital nervous system disorder' 'aortic arch anomaly-facial dysmorphism-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019129 global developmental delay-osteopenia-ectodermal defect syndrome 'global developmental delay-osteopenia-ectodermal defect syndrome' SubClassOf 'syndromic intellectual disability' 'global developmental delay-osteopenia-ectodermal defect syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010794 NARP syndrome 'NARP syndrome' SubClassOf 'monogenic epilepsy' http://purl.obolibrary.org/obo/MONDO_0019131 ossification anomalies-psychomotor developmental delay syndrome 'ossification anomalies-psychomotor developmental delay syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019133 visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome 'visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome' SubClassOf 'syndromic intellectual disability' 'visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0007173 atrial septal defect 7 'atrial septal defect 7' SubClassOf 'genetic cardiac rhythm disease' http://purl.obolibrary.org/obo/MONDO_0007174 Lown-Ganong-Levine syndrome 'Lown-Ganong-Levine syndrome' SubClassOf 'genetic cardiac rhythm disease' http://purl.obolibrary.org/obo/MONDO_0019153 brain malformation-congenital heart disease-postaxial polydactyly syndrome 'brain malformation-congenital heart disease-postaxial polydactyly syndrome' SubClassOf 'syndromic intellectual disability' 'brain malformation-congenital heart disease-postaxial polydactyly syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0019171 familial long QT syndrome 'familial long QT syndrome' SubClassOf 'genetic cardiac rhythm disease' 'familial long QT syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0019169 pyruvate dehydrogenase deficiency 'pyruvate dehydrogenase deficiency' SubClassOf 'monogenic epilepsy' http://purl.obolibrary.org/obo/MONDO_0019180 hereditary hemorrhagic telangiectasia 'hereditary hemorrhagic telangiectasia' SubClassOf 'skin vascular disease' http://purl.obolibrary.org/obo/MONDO_0019193 acquired generalized lipodystrophy 'acquired generalized lipodystrophy' SubClassOf 'diabetes mellitus' http://purl.obolibrary.org/obo/MONDO_0019188 Rubinstein-Taybi syndrome 'Rubinstein-Taybi syndrome' SubClassOf 'syndromic genetic obesity' 'Rubinstein-Taybi syndrome' SubClassOf 'lens shape anomaly' http://purl.obolibrary.org/obo/MONDO_0019197 folinic acid-responsive seizures 'folinic acid-responsive seizures' SubClassOf 'monogenic epilepsy' http://purl.obolibrary.org/obo/MONDO_0009618 microcephaly-cardiomyopathy syndrome 'microcephaly-cardiomyopathy syndrome' SubClassOf 'congenital nervous system disorder' 'microcephaly-cardiomyopathy syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome 'Galloway-Mowat syndrome' SubClassOf 'syndromic intellectual disability' 'Galloway-Mowat syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius 'X-linked hydrocephalus with stenosis of the aqueduct of Sylvius' SubClassOf 'X-linked disease' http://purl.obolibrary.org/obo/MONDO_0009621 microcephaly-cervical spine fusion anomalies syndrome 'microcephaly-cervical spine fusion anomalies syndrome' SubClassOf 'congenital nervous system disorder' 'microcephaly-cervical spine fusion anomalies syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009620 Say-Barber-Miller syndrome 'Say-Barber-Miller syndrome' SubClassOf 'syndromic intellectual disability' 'Say-Barber-Miller syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0010617 male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome 'male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome' SubClassOf 'syndromic intellectual disability' 'male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0009642 orofaciodigital syndrome type II 'orofaciodigital syndrome type II' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009666 holocarboxylase synthetase deficiency 'holocarboxylase synthetase deficiency' SubClassOf 'monogenic epilepsy' http://purl.obolibrary.org/obo/MONDO_0009665 biotinidase deficiency 'biotinidase deficiency' SubClassOf 'monogenic epilepsy' http://purl.obolibrary.org/obo/MONDO_0010658 syndromic X-linked intellectual disability 12 'syndromic X-linked intellectual disability 12' SubClassOf 'X-linked syndromic intellectual disability' 'syndromic X-linked intellectual disability 12' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009664 mulibrey nanism 'mulibrey nanism' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0010650 Melnick-Needles syndrome 'Melnick-Needles syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010652 X-linked intellectual disability-seizures-psoriasis syndrome 'X-linked intellectual disability-seizures-psoriasis syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability-seizures-psoriasis syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010654 Partington syndrome 'Partington syndrome' SubClassOf 'nervous system disease' 'Partington syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010653 Renpenning syndrome 'Renpenning syndrome' SubClassOf 'syndromic disease' 'Renpenning syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010667 Prieto syndrome 'Prieto syndrome' SubClassOf 'syndromic disease' 'Prieto syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010668 skeletal dysplasia-intellectual disability syndrome 'skeletal dysplasia-intellectual disability syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009671 intellectual disability-myopathy-short stature-endocrine defect syndrome 'intellectual disability-myopathy-short stature-endocrine defect syndrome' SubClassOf 'congenital nervous system disorder' 'intellectual disability-myopathy-short stature-endocrine defect syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010661 severe X-linked intellectual disability, Gustavson type 'severe X-linked intellectual disability, Gustavson type' SubClassOf 'X-linked syndromic intellectual disability' 'severe X-linked intellectual disability, Gustavson type' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010665 Wilson-Turner syndrome 'Wilson-Turner syndrome' SubClassOf 'syndromic disease' 'Wilson-Turner syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010664 syndromic X-linked intellectual disability Snyder type 'syndromic X-linked intellectual disability Snyder type' SubClassOf 'X-linked syndromic intellectual disability' 'syndromic X-linked intellectual disability Snyder type' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010670 X-linked intellectual disability-spastic quadriparesis syndrome 'X-linked intellectual disability-spastic quadriparesis syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability-spastic quadriparesis syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010672 linear skin defects with multiple congenital anomalies 'linear skin defects with multiple congenital anomalies' SubClassOf 'X-linked syndromic intellectual disability' 'linear skin defects with multiple congenital anomalies' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://purl.obolibrary.org/obo/MONDO_0007034 Adams-Oliver syndrome 'Adams-Oliver syndrome' SubClassOf 'mixed dermis disorder' http://purl.obolibrary.org/obo/MONDO_0019017 short fifth metacarpals-insulin resistance syndrome 'short fifth metacarpals-insulin resistance syndrome' SubClassOf 'diabetes mellitus' 'short fifth metacarpals-insulin resistance syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007045 acrofacial dysostosis, Catania type 'acrofacial dysostosis, Catania type' SubClassOf 'syndromic intellectual disability' 'acrofacial dysostosis, Catania type' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0010691 Norrie disease 'Norrie disease' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019032 X-linked intellectual disability with isolated growth hormone deficiency 'X-linked intellectual disability with isolated growth hormone deficiency' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability with isolated growth hormone deficiency' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019053 peroxisomal disease 'peroxisomal disease' SubClassOf 'monogenic epilepsy' http://purl.obolibrary.org/obo/MONDO_0007078 pseudohypoparathyroidism type 1A 'pseudohypoparathyroidism type 1A' SubClassOf 'dermis disorder' http://purl.obolibrary.org/obo/MONDO_0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome 'alopecia-epilepsy-pyorrhea-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0020074 progressive myoclonus epilepsy 'progressive myoclonus epilepsy' SubClassOf 'genetic disorder' 'progressive myoclonus epilepsy' SubClassOf 'monogenic epilepsy' http://purl.obolibrary.org/obo/MONDO_0019078 Ritscher-Schinzel syndrome 'Ritscher-Schinzel syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0020066 Ehlers-Danlos syndrome 'Ehlers-Danlos syndrome' SubClassOf 'hereditary disorder of connective tissue' 'Ehlers-Danlos syndrome' SubClassOf 'dermis elastic tissue disorder' 'Ehlers-Danlos syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0020087 genetic lipodystrophy 'genetic lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://www.orpha.net/ORDO/Orphanet_2850 Alopecia-intellectual disability syndrome 'Alopecia-intellectual disability syndrome' SubClassOf 'skin disease' 'Alopecia-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://purl.obolibrary.org/obo/MONDO_0009517 Donohue syndrome 'Donohue syndrome' SubClassOf 'diabetes mellitus' 'Donohue syndrome' SubClassOf 'inborn errors of metabolism' 'Donohue syndrome' SubClassOf 'developmental anomaly of metabolic origin' http://purl.obolibrary.org/obo/MONDO_0009514 Laurence-Moon syndrome 'Laurence-Moon syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010505 intellectual disability-balding-patella luxation-acromicria syndrome 'intellectual disability-balding-patella luxation-acromicria syndrome' SubClassOf 'syndromic intellectual disability' 'intellectual disability-balding-patella luxation-acromicria syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0009524 intellectual disability-spasticity-ectrodactyly syndrome 'intellectual disability-spasticity-ectrodactyly syndrome' SubClassOf 'syndromic intellectual disability' 'intellectual disability-spasticity-ectrodactyly syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0010512 intellectual disability, X-linked, syndromic, Bain type 'intellectual disability, X-linked, syndromic, Bain type' SubClassOf 'X-linked syndromic intellectual disability' 'intellectual disability, X-linked, syndromic, Bain type' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010519 alpha thalassemia-X-linked intellectual disability syndrome 'alpha thalassemia-X-linked intellectual disability syndrome' SubClassOf 'X-linked disease' http://purl.obolibrary.org/obo/MONDO_0010518 Wiskott-Aldrich syndrome 'Wiskott-Aldrich syndrome' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0010526 Fabry disease 'Fabry disease' SubClassOf 'lymphatic malformation' 'Fabry disease' SubClassOf 'syndromic lymphedema' 'Fabry disease' SubClassOf 'neurovascular disorder' 'Fabry disease' SubClassOf 'eye disease' 'Fabry disease' SubClassOf 'syndromic dyslipidemia' 'Fabry disease' SubClassOf 'skin vascular disease' http://purl.obolibrary.org/obo/MONDO_0009532 Miller-Dieker lissencephaly syndrome 'Miller-Dieker lissencephaly syndrome' SubClassOf 'epilepsy' 'Miller-Dieker lissencephaly syndrome' SubClassOf 'syndromic disease' 'Miller-Dieker lissencephaly syndrome' SubClassOf 'monogenic epilepsy' http://purl.obolibrary.org/obo/MONDO_0009530 lipoid proteinosis 'lipoid proteinosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://purl.obolibrary.org/obo/MONDO_0010537 Borjeson-Forssman-Lehmann syndrome 'Borjeson-Forssman-Lehmann syndrome' SubClassOf 'syndromic disease' 'Borjeson-Forssman-Lehmann syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009543 prominent glabella-microcephaly-hypogenitalism syndrome 'prominent glabella-microcephaly-hypogenitalism syndrome' SubClassOf 'congenital nervous system disorder' 'prominent glabella-microcephaly-hypogenitalism syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010531 contractures-ectodermal dysplasia-cleft lip/palate syndrome 'contractures-ectodermal dysplasia-cleft lip/palate syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010545 Nance-Horan syndrome 'Nance-Horan syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Nance-Horan syndrome' SubClassOf 'bearer_of' some 'rare' 'Nance-Horan syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0009566 marfanoid habitus-autosomal recessive intellectual disability syndrome 'marfanoid habitus-autosomal recessive intellectual disability syndrome' SubClassOf 'congenital nervous system disorder' 'marfanoid habitus-autosomal recessive intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009565 microcephaly-glomerulonephritis-marfanoid habitus syndrome 'microcephaly-glomerulonephritis-marfanoid habitus syndrome' SubClassOf 'syndromic intellectual disability' 'microcephaly-glomerulonephritis-marfanoid habitus syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0009564 Marden-Walker syndrome 'Marden-Walker syndrome' SubClassOf 'syndromic intellectual disability' 'Marden-Walker syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0009570 McDonough syndrome 'McDonough syndrome' SubClassOf 'congenital nervous system disorder' 'McDonough syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009577 megalocornea-intellectual disability syndrome 'megalocornea-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'megalocornea-intellectual disability syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0009575 thiamine-responsive megaloblastic anemia syndrome 'thiamine-responsive megaloblastic anemia syndrome' SubClassOf 'diabetes mellitus' http://purl.obolibrary.org/obo/MONDO_0009581 intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome 'intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome' SubClassOf 'congenital nervous system disorder' 'intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010561 Coffin-Lowry syndrome 'Coffin-Lowry syndrome' SubClassOf 'syndromic disease' 'Coffin-Lowry syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009584 intellectual disability, Buenos-Aires type 'intellectual disability, Buenos-Aires type' SubClassOf 'syndromic intellectual disability' 'intellectual disability, Buenos-Aires type' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010574 syndromic X-linked intellectual disability 5 'syndromic X-linked intellectual disability 5' SubClassOf 'X-linked syndromic intellectual disability' 'syndromic X-linked intellectual disability 5' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009599 metaphyseal dysostosis-intellectual disability-conductive deafness syndrome 'metaphyseal dysostosis-intellectual disability-conductive deafness syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010592 focal dermal hypoplasia 'focal dermal hypoplasia' SubClassOf 'bearer_of' some 'rare' 'focal dermal hypoplasia' SubClassOf 'material entity' 'focal dermal hypoplasia' SubClassOf 'X-linked syndromic intellectual disability' http://www.ebi.ac.uk/efo/EFO_1001121 prediabetes syndrome 'prediabetes syndrome' SubClassOf 'diabetes mellitus' 'prediabetes syndrome' SubClassOf 'glucose metabolism disease' 'prediabetes syndrome' SubClassOf 'diabetes mellitus' http://purl.obolibrary.org/obo/MONDO_0009404 hypertelorism, microtia, facial clefting syndrome 'hypertelorism, microtia, facial clefting syndrome' SubClassOf 'congenital nervous system disorder' 'hypertelorism, microtia, facial clefting syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009419 Woodhouse-Sakati syndrome 'Woodhouse-Sakati syndrome' SubClassOf 'syndromic intellectual disability' 'Woodhouse-Sakati syndrome' SubClassOf 'diabetes mellitus' http://purl.obolibrary.org/obo/MONDO_0010403 albinism-hearing loss syndrome 'albinism-hearing loss syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://purl.obolibrary.org/obo/MONDO_0010407 intellectual disability, X-linked syndromic, Turner type 'intellectual disability, X-linked syndromic, Turner type' SubClassOf 'X-linked syndromic intellectual disability' 'intellectual disability, X-linked syndromic, Turner type' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010409 syndromic X-linked intellectual disability Shrimpton type 'syndromic X-linked intellectual disability Shrimpton type' SubClassOf 'X-linked syndromic intellectual disability' 'syndromic X-linked intellectual disability Shrimpton type' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009426 hypoparathyroidism-retardation-dysmorphism syndrome 'hypoparathyroidism-retardation-dysmorphism syndrome' SubClassOf 'congenital nervous system disorder' 'hypoparathyroidism-retardation-dysmorphism syndrome' SubClassOf 'syndromic intellectual disability' 'hypoparathyroidism-retardation-dysmorphism syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010417 syndromic X-linked intellectual disability Najm type 'syndromic X-linked intellectual disability Najm type' SubClassOf 'X-linked syndromic intellectual disability' 'syndromic X-linked intellectual disability Najm type' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010412 X-linked intellectual disability-craniofacioskeletal syndrome 'X-linked intellectual disability-craniofacioskeletal syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability-craniofacioskeletal syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009435 hypospadias-intellectual disability, Goldblatt type syndrome 'hypospadias-intellectual disability, Goldblatt type syndrome' SubClassOf 'congenital nervous system disorder' 'hypospadias-intellectual disability, Goldblatt type syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010427 syndromic X-linked intellectual disability Raymond type 'syndromic X-linked intellectual disability Raymond type' SubClassOf 'X-linked syndromic intellectual disability' 'syndromic X-linked intellectual disability Raymond type' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010428 chromosome Xp11.23-p11.22 duplication syndrome 'chromosome Xp11.23-p11.22 duplication syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009444 ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome 'ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009452 Vici syndrome 'Vici syndrome' SubClassOf 'hypopigmentation of the skin' http://purl.obolibrary.org/obo/MONDO_0010441 CK syndrome 'CK syndrome' SubClassOf 'syndromic intellectual disability' 'CK syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009479 Johanson-Blizzard syndrome 'Johanson-Blizzard syndrome' SubClassOf 'syndromic anorectal malformation' 'Johanson-Blizzard syndrome' SubClassOf 'non-acquired combined pituitary hormone deficiency' 'Johanson-Blizzard syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'Johanson-Blizzard syndrome' SubClassOf 'syndromic intellectual disability' 'Johanson-Blizzard syndrome' SubClassOf 'syndromic hypothyroidism' http://purl.obolibrary.org/obo/MONDO_0009483 kapur-Toriello syndrome 'kapur-Toriello syndrome' SubClassOf 'congenital nervous system disorder' 'kapur-Toriello syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010461 syndromic X-linked intellectual disability Nascimento type 'syndromic X-linked intellectual disability Nascimento type' SubClassOf 'X-linked syndromic intellectual disability' 'syndromic X-linked intellectual disability Nascimento type' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010460 syndromic X-linked intellectual disability 17 'syndromic X-linked intellectual disability 17' SubClassOf 'X-linked syndromic intellectual disability' 'syndromic X-linked intellectual disability 17' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009485 oculocerebrofacial syndrome, Kaufman type 'oculocerebrofacial syndrome, Kaufman type' SubClassOf 'congenital nervous system disorder' 'oculocerebrofacial syndrome, Kaufman type' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010473 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome 'X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome' SubClassOf 'genetic cardiac rhythm disease' 'X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010477 blepharophimosis - intellectual disability syndrome, MKB type 'blepharophimosis - intellectual disability syndrome, MKB type' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0009495 Keutel syndrome 'Keutel syndrome' SubClassOf 'congenital nervous system disorder' 'Keutel syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010483 X-linked intellectual disability, Cantagrel type 'X-linked intellectual disability, Cantagrel type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Cantagrel type' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010498 MEND syndrome 'MEND syndrome' SubClassOf 'syndromic intellectual disability' 'MEND syndrome' SubClassOf 'syndromic dyslipidemia' 'MEND syndrome' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_1001250 rotator cuff tear 'rotator cuff tear' SubClassOf 'muscular disease' 'rotator cuff tear' SubClassOf 'muscle tissue disorder' 'rotator cuff tear' SubClassOf 'muscular disease' http://purl.obolibrary.org/obo/MONDO_0012912 pseudopseudohypoparathyroidism 'pseudopseudohypoparathyroidism' SubClassOf 'dermis disorder' http://purl.obolibrary.org/obo/MONDO_0012911 pseudohypoparathyroidism type 1C 'pseudohypoparathyroidism type 1C' SubClassOf 'dermis disorder' http://purl.obolibrary.org/obo/MONDO_0012948 chromosome 6pter-p24 deletion syndrome 'chromosome 6pter-p24 deletion syndrome' SubClassOf 'syndromic intellectual disability' 'chromosome 6pter-p24 deletion syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0009306 combined immunodeficiency with skin granulomas 'combined immunodeficiency with skin granulomas' SubClassOf 'skin disease' 'combined immunodeficiency with skin granulomas' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://purl.obolibrary.org/obo/MONDO_0009313 Grubben-de Cock-Borghgraef syndrome 'Grubben-de Cock-Borghgraef syndrome' SubClassOf 'syndromic intellectual disability' 'Grubben-de Cock-Borghgraef syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010306 X-linked intellectual disability, Cabezas type 'X-linked intellectual disability, Cabezas type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Cabezas type' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009320 Hall-Riggs syndrome 'Hall-Riggs syndrome' SubClassOf 'syndromic intellectual disability' 'Hall-Riggs syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0010325 X-linked intellectual disability, Stocco dos Santos type 'X-linked intellectual disability, Stocco dos Santos type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Stocco dos Santos type' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010337 X-linked intellectual disability-cerebellar hypoplasia syndrome 'X-linked intellectual disability-cerebellar hypoplasia syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability-cerebellar hypoplasia syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010339 X-linked epilepsy-learning disabilities-behavior disorders syndrome 'X-linked epilepsy-learning disabilities-behavior disorders syndrome' SubClassOf 'syndromic disease' 'X-linked epilepsy-learning disabilities-behavior disorders syndrome' SubClassOf 'X-linked disease' 'X-linked epilepsy-learning disabilities-behavior disorders syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010333 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 'corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010332 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome 'X-linked intellectual disability-cubitus valgus-dysmorphism syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability-cubitus valgus-dysmorphism syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome 'severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0024969 parasitic disease, non-human animal 'parasitic disease, non-human animal' SubClassOf 'animal disease' 'parasitic disease, non-human animal' SubClassOf 'parasitic infection' 'parasitic disease, non-human animal' SubClassOf 'cross-species analog' some 'parasitic infection' 'parasitic disease, non-human animal' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700049 'parasitic disease, non-human animal' EquivalentTo 'animal disease' and ('cross-species analog' some 'parasitic infection') http://purl.obolibrary.org/obo/MONDO_0010355 syndromic X-linked intellectual disability Claes-Jensen type 'syndromic X-linked intellectual disability Claes-Jensen type' SubClassOf 'X-linked syndromic intellectual disability' 'syndromic X-linked intellectual disability Claes-Jensen type' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010354 Allan-Herndon-Dudley syndrome 'Allan-Herndon-Dudley syndrome' SubClassOf 'syndromic disease' 'Allan-Herndon-Dudley syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010364 X-linked intellectual disability-retinitis pigmentosa syndrome 'X-linked intellectual disability-retinitis pigmentosa syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability-retinitis pigmentosa syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010383 fragile X syndrome 'fragile X syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'fragile X syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010386 immunodeficiency 33 'immunodeficiency 33' SubClassOf 'inborn error of immunity' http://www.ebi.ac.uk/efo/EFO_1001185 smooth muscle tumor 'smooth muscle tumor' SubClassOf 'muscular disease' http://purl.obolibrary.org/obo/MONDO_0012856 Birk-Barel syndrome 'Birk-Barel syndrome' SubClassOf 'syndromic intellectual disability' 'Birk-Barel syndrome' SubClassOf 'intellectual disability, autosomal dominant' 'Birk-Barel syndrome' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0010203 intellectual disability, Wolff type 'intellectual disability, Wolff type' SubClassOf 'syndromic intellectual disability' 'intellectual disability, Wolff type' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009241 fountain syndrome 'fountain syndrome' SubClassOf 'congenital nervous system disorder' 'fountain syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0012885 SRD5A3-congenital disorder of glycosylation 'SRD5A3-congenital disorder of glycosylation' SubClassOf 'skin disease' 'SRD5A3-congenital disorder of glycosylation' SubClassOf 'developmental defect of the eye' 'SRD5A3-congenital disorder of glycosylation' SubClassOf 'developmental anomaly of metabolic origin' 'SRD5A3-congenital disorder of glycosylation' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0010237 X-linked intellectual disability-plagiocephaly syndrome 'X-linked intellectual disability-plagiocephaly syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability-plagiocephaly syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009242 brittle cornea syndrome 'brittle cornea syndrome' SubClassOf 'hereditary disorder of connective tissue' http://purl.obolibrary.org/obo/MONDO_0010235 X-linked intellectual disability-psychosis-macroorchidism syndrome 'X-linked intellectual disability-psychosis-macroorchidism syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability-psychosis-macroorchidism syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009253 Fryns syndrome 'Fryns syndrome' SubClassOf 'syndromic intellectual disability' 'Fryns syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0009263 gapo syndrome 'gapo syndrome' SubClassOf 'congenital nervous system disorder' 'gapo syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010258 MEHMO syndrome 'MEHMO syndrome' SubClassOf 'syndromic disease' 'MEHMO syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010268 X-linked lissencephaly with abnormal genitalia 'X-linked lissencephaly with abnormal genitalia' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked lissencephaly with abnormal genitalia' SubClassOf 'X-linked disease' http://purl.obolibrary.org/obo/MONDO_0010277 syndromic X-linked intellectual disability Shashi type 'syndromic X-linked intellectual disability Shashi type' SubClassOf 'X-linked syndromic intellectual disability' 'syndromic X-linked intellectual disability Shashi type' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010279 terminal osseous dysplasia-pigmentary defects syndrome 'terminal osseous dysplasia-pigmentary defects syndrome' SubClassOf 'hyperpigmentation of the skin' http://purl.obolibrary.org/obo/MONDO_0010270 syndromic X-linked intellectual disability 7 'syndromic X-linked intellectual disability 7' SubClassOf 'X-linked syndromic intellectual disability' 'syndromic X-linked intellectual disability 7' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010285 syndromic X-linked intellectual disability Abidi type 'syndromic X-linked intellectual disability Abidi type' SubClassOf 'X-linked syndromic intellectual disability' 'syndromic X-linked intellectual disability Abidi type' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010286 syndromic X-linked intellectual disability Siderius type 'syndromic X-linked intellectual disability Siderius type' SubClassOf 'X-linked syndromic intellectual disability' 'syndromic X-linked intellectual disability Siderius type' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010283 syndromic X-linked intellectual disability Lubs type 'syndromic X-linked intellectual disability Lubs type' SubClassOf 'X-linked syndromic intellectual disability' 'syndromic X-linked intellectual disability Lubs type' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010092 Filippi syndrome 'Filippi syndrome' SubClassOf 'syndromic intellectual disability' 'Filippi syndrome' SubClassOf 'congenital nervous system disorder' http://www.ebi.ac.uk/efo/EFO_1001006 Klinefelter's syndrome 'Klinefelter's syndrome' SubClassOf 'genetic disorder' 'Klinefelter's syndrome' SubClassOf 'monogenic epilepsy' http://purl.obolibrary.org/obo/MONDO_0000736 dyschromatosis universalis hereditaria 'dyschromatosis universalis hereditaria' SubClassOf 'genetic disorder' 'dyschromatosis universalis hereditaria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://purl.obolibrary.org/obo/MONDO_0009124 Dubowitz syndrome 'Dubowitz syndrome' SubClassOf 'syndromic intellectual disability' 'Dubowitz syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0009131 Riley-Day syndrome 'Riley-Day syndrome' SubClassOf 'congenital alacrima' 'Riley-Day syndrome' SubClassOf 'dermis disorder' 'Riley-Day syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0012774 chromosome 15q13.3 microdeletion syndrome 'chromosome 15q13.3 microdeletion syndrome' SubClassOf 'epilepsy' 'chromosome 15q13.3 microdeletion syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010125 upper limb defect-eye and ear abnormalities syndrome 'upper limb defect-eye and ear abnormalities syndrome' SubClassOf 'congenital nervous system disorder' 'upper limb defect-eye and ear abnormalities syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0012794 ANE syndrome 'ANE syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009167 Bonnemann-Meinecke-Reich syndrome 'Bonnemann-Meinecke-Reich syndrome' SubClassOf 'congenital nervous system disorder' 'Bonnemann-Meinecke-Reich syndrome' SubClassOf 'syndromic intellectual disability' 'Bonnemann-Meinecke-Reich syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009176 epidermodysplasia verruciformis 'epidermodysplasia verruciformis' SubClassOf 'skin disease' 'epidermodysplasia verruciformis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://purl.obolibrary.org/obo/MONDO_0009188 epilepsy-telangiectasia syndrome 'epilepsy-telangiectasia syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010176 orofaciodigital syndrome type 6 'orofaciodigital syndrome type 6' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009192 Wolcott-Rallison syndrome 'Wolcott-Rallison syndrome' SubClassOf 'inborn errors of metabolism' 'Wolcott-Rallison syndrome' SubClassOf 'diabetes mellitus' http://purl.obolibrary.org/obo/MONDO_0010196 Werner syndrome 'Werner syndrome' SubClassOf 'hereditary poikiloderma' 'Werner syndrome' SubClassOf 'progeroid syndrome' 'Werner syndrome' SubClassOf 'eye disease' 'Werner syndrome' SubClassOf 'bearer_of' some 'rare' 'Werner syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010193 Weaver syndrome 'Weaver syndrome' SubClassOf 'syndromic intellectual disability' 'Weaver syndrome' SubClassOf 'congenital nervous system disorder' 'Weaver syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0017411 neonatal inflammatory skin and bowel disease 'neonatal inflammatory skin and bowel disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://purl.obolibrary.org/obo/MONDO_0007924 Bannayan-Riley-Ruvalcaba syndrome 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'congenital nervous system disorder' 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'neurovascular disorder' 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'intellectual disability, autosomal dominant' 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'syndromic intellectual disability' 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0017305 syndromic oculocutaneous albinism 'syndromic oculocutaneous albinism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://purl.obolibrary.org/obo/MONDO_0007991 microcephaly-deafness-intellectual disability syndrome 'microcephaly-deafness-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'microcephaly-deafness-intellectual disability syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0017315 short stature-webbed neck-heart disease syndrome 'short stature-webbed neck-heart disease syndrome' SubClassOf 'syndromic intellectual disability' 'short stature-webbed neck-heart disease syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0017329 familial vesicoureteral reflux 'familial vesicoureteral reflux' SubClassOf 'non-syndromic urogenital tract malformation of male and female' 'familial vesicoureteral reflux' SubClassOf 'non-syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0017325 early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation 'early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0017379 polyneuropathy-intellectual disability-acromicria-premature menopause syndrome 'polyneuropathy-intellectual disability-acromicria-premature menopause syndrome' SubClassOf 'syndromic intellectual disability' 'polyneuropathy-intellectual disability-acromicria-premature menopause syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0017377 preaxial polydactyly-colobomata-intellectual disability syndrome 'preaxial polydactyly-colobomata-intellectual disability syndrome' SubClassOf 'congenital nervous system disorder' 'preaxial polydactyly-colobomata-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0017393 blepharophimosis - intellectual disability syndrome 'blepharophimosis - intellectual disability syndrome' SubClassOf 'congenital nervous system disorder' 'blepharophimosis - intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007806 hypotrichosis 4 'hypotrichosis 4' SubClassOf 'hypotrichosis' 'hypotrichosis 4' SubClassOf 'Marie Unna hereditary hypotrichosis' 'hypotrichosis 4' SubClassOf 'genetic alopecia' 'hypotrichosis 4' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0007837 Johnson neuroectodermal syndrome 'Johnson neuroectodermal syndrome' SubClassOf 'congenital nervous system disorder' 'Johnson neuroectodermal syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007846 KBG syndrome 'KBG syndrome' SubClassOf 'syndromic intellectual disability' 'KBG syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007864 angioosteohypertrophic syndrome 'angioosteohypertrophic syndrome' SubClassOf 'skin vascular disease' http://purl.obolibrary.org/obo/MONDO_0007874 trichorhinophalangeal syndrome type II 'trichorhinophalangeal syndrome type II' SubClassOf 'congenital nervous system disorder' 'trichorhinophalangeal syndrome type II' SubClassOf 'intellectual disability, autosomal dominant' 'trichorhinophalangeal syndrome type II' SubClassOf 'syndromic intellectual disability' 'trichorhinophalangeal syndrome type II' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0007899 lichen sclerosus et atrophicus 'lichen sclerosus et atrophicus' SubClassOf 'genetic disorder' 'lichen sclerosus et atrophicus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://purl.obolibrary.org/obo/MONDO_0007892 Lenz-Majewski hyperostotic dwarfism 'Lenz-Majewski hyperostotic dwarfism' SubClassOf 'congenital nervous system disorder' 'Lenz-Majewski hyperostotic dwarfism' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0017232 recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome 'recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome' SubClassOf 'syndromic intellectual disability' 'recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0019896 Kleefstra syndrome due to 9q34 microdeletion 'Kleefstra syndrome due to 9q34 microdeletion' SubClassOf 'epilepsy' 'Kleefstra syndrome due to 9q34 microdeletion' SubClassOf 'congenital nervous system disorder' 'Kleefstra syndrome due to 9q34 microdeletion' SubClassOf 'monogenic epilepsy' http://purl.obolibrary.org/obo/MONDO_0017230 autosomal semi-dominant severe lipodystrophic laminopathy 'autosomal semi-dominant severe lipodystrophic laminopathy' SubClassOf 'diabetes mellitus' http://purl.obolibrary.org/obo/MONDO_0017241 AP4-related intellectual disability and spastic paraplegia 'AP4-related intellectual disability and spastic paraplegia' SubClassOf 'syndromic intellectual disability' 'AP4-related intellectual disability and spastic paraplegia' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0017284 Xp22.13p22.2 duplication syndrome 'Xp22.13p22.2 duplication syndrome' SubClassOf 'congenital nervous system disorder' 'Xp22.13p22.2 duplication syndrome' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_171723 White sponge nevus 'White sponge nevus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://purl.obolibrary.org/obo/MONDO_0007902 lichen planus, familial 'lichen planus, familial' SubClassOf 'genetic disorder' 'lichen planus, familial' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://purl.obolibrary.org/obo/MONDO_0007716 alpha thalassemia-intellectual disability syndrome type 1 'alpha thalassemia-intellectual disability syndrome type 1' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007724 hirsutism-skeletal dysplasia-intellectual disability syndrome 'hirsutism-skeletal dysplasia-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'hirsutism-skeletal dysplasia-intellectual disability syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0007732 Holt-Oram syndrome 'Holt-Oram syndrome' SubClassOf 'genetic cardiac rhythm disease' 'Holt-Oram syndrome' SubClassOf 'heart disease' http://www.orpha.net/ORDO/Orphanet_91132 Ichthyosis-hypotrichosis syndrome 'Ichthyosis-hypotrichosis syndrome' SubClassOf 'skin disease' 'Ichthyosis-hypotrichosis syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://purl.obolibrary.org/obo/MONDO_0007757 hyperkeratosis-hyperpigmentation syndrome 'hyperkeratosis-hyperpigmentation syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://purl.obolibrary.org/obo/MONDO_0020745 ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome 'ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome' SubClassOf 'genetic cardiac rhythm disease' 'ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome' SubClassOf 'cardiac rhythm disease' http://purl.obolibrary.org/obo/MONDO_0019760 terminal transverse defects of arm 'terminal transverse defects of arm' SubClassOf 'constriction rings syndrome' 'terminal transverse defects of arm' SubClassOf 'amniotic band syndrome' http://purl.obolibrary.org/obo/MONDO_0019786 severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia 'severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia' SubClassOf 'syndromic intellectual disability' 'severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0044738 Gabriele de Vries syndrome 'Gabriele de Vries syndrome' SubClassOf 'syndromic intellectual disability' 'Gabriele de Vries syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0017140 L1 syndrome 'L1 syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_183625 Rare genetic diabetes mellitus 'Rare genetic diabetes mellitus' SubClassOf 'diabetes mellitus' 'Rare genetic diabetes mellitus' SubClassOf 'inborn errors of metabolism' 'Rare genetic diabetes mellitus' SubClassOf 'monogenic diabetes' http://purl.obolibrary.org/obo/MONDO_0017197 osteopathia striata-pigmentary dermopathy-white forelock syndrome 'osteopathia striata-pigmentary dermopathy-white forelock syndrome' SubClassOf 'genetic disorder' 'osteopathia striata-pigmentary dermopathy-white forelock syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://purl.obolibrary.org/obo/MONDO_0056797 neurodevelopmental disorder with midbrain and hindbrain malformations 'neurodevelopmental disorder with midbrain and hindbrain malformations' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007619 isolated congenital adermatoglyphia 'isolated congenital adermatoglyphia' SubClassOf 'skin disease' 'isolated congenital adermatoglyphia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://purl.obolibrary.org/obo/MONDO_0007621 floating-Harbor syndrome 'floating-Harbor syndrome' SubClassOf 'congenital nervous system disorder' 'floating-Harbor syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019603 osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome 'osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome' SubClassOf 'congenital nervous system disorder' 'osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0020606 sex-linked disease 'sex-linked disease' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0019623 hereditary angioedema 'hereditary angioedema' SubClassOf 'genetic disorder' 'hereditary angioedema' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://purl.obolibrary.org/obo/MONDO_0020627 epileptic encephalopathy, infantile or early childhood 'epileptic encephalopathy, infantile or early childhood' SubClassOf 'genetic disorder' 'epileptic encephalopathy, infantile or early childhood' SubClassOf 'monogenic epilepsy' http://www.ebi.ac.uk/efo/EFO_1001987 dropped head syndrome 'dropped head syndrome' SubClassOf 'muscular disease' http://purl.obolibrary.org/obo/MONDO_0007679 GMS syndrome 'GMS syndrome' SubClassOf 'syndromic intellectual disability' 'GMS syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_1001995 Sclerodermatomyositis 'Sclerodermatomyositis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://purl.obolibrary.org/obo/MONDO_0007688 Myhre syndrome 'Myhre syndrome' SubClassOf 'syndromic intellectual disability' 'Myhre syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0017045 neuroectodermal-endocrine syndrome 'neuroectodermal-endocrine syndrome' SubClassOf 'syndromic intellectual disability' 'neuroectodermal-endocrine syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0044646 early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome 'early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0044655 c12orf65-related combined oxidative phosphorylation defect 'c12orf65-related combined oxidative phosphorylation defect' SubClassOf 'syndromic intellectual disability' http://www.ebi.ac.uk/efo/EFO_0003894 acne 'acne' SubClassOf 'genetic disorder' 'acne' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://www.ebi.ac.uk/efo/EFO_0003899 contracture 'contracture' SubClassOf 'muscular disease' 'contracture' SubClassOf 'muscle tissue disorder' 'contracture' SubClassOf 'muscular disease' http://purl.obolibrary.org/obo/MONDO_0044696 early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome 'early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome' SubClassOf 'congenital nervous system disorder' 'early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0044699 SIN3A-related intellectual disability syndrome 'SIN3A-related intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'SIN3A-related intellectual disability syndrome' SubClassOf 'congenital nervous system disorder' 'SIN3A-related intellectual disability syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019518 Waardenburg-Shah syndrome 'Waardenburg-Shah syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0007540 multiple endocrine neoplasia type 1 'multiple endocrine neoplasia type 1' SubClassOf 'adrenal/paraganglial tumor' 'multiple endocrine neoplasia type 1' SubClassOf 'adrenal gland neoplasm' http://purl.obolibrary.org/obo/MONDO_0007574 spinocerebellar ataxia type 34 'spinocerebellar ataxia type 34' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://www.ebi.ac.uk/efo/EFO_0003867 rhabdomyolysis 'rhabdomyolysis' SubClassOf 'muscular disease' 'rhabdomyolysis' SubClassOf 'muscle tissue disorder' 'rhabdomyolysis' SubClassOf 'muscular disease' http://www.ebi.ac.uk/efo/EFO_0003850 adrenal gland neoplasm 'adrenal gland neoplasm' SubClassOf 'adrenal gland disease' 'adrenal gland neoplasm' SubClassOf 'endocrine neoplasm' 'adrenal gland neoplasm' SubClassOf 'adrenal gland disease' 'adrenal gland neoplasm' SubClassOf 'endocrine neoplasm' http://www.orpha.net/ORDO/Orphanet_701 Alopecia universalis 'Alopecia universalis' SubClassOf 'skin disease' 'Alopecia universalis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://purl.obolibrary.org/obo/MONDO_0007412 Beare-Stevenson cutis gyrata syndrome 'Beare-Stevenson cutis gyrata syndrome' SubClassOf 'dermis disorder' http://purl.obolibrary.org/obo/MONDO_0007420 autosomal dominant deafness - onychodystrophy syndrome 'autosomal dominant deafness - onychodystrophy syndrome' SubClassOf 'intellectual disability, autosomal dominant' 'autosomal dominant deafness - onychodystrophy syndrome' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0019407 microcephalic osteodysplastic dysplasia, Saul-Wilson type 'microcephalic osteodysplastic dysplasia, Saul-Wilson type' SubClassOf 'intellectual disability, autosomal dominant' 'microcephalic osteodysplastic dysplasia, Saul-Wilson type' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0019419 X-linked intellectual disability-macrocephaly-macroorchidism syndrome 'X-linked intellectual disability-macrocephaly-macroorchidism syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability-macrocephaly-macroorchidism syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019418 X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome 'X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019417 X-linked intellectual disability-precocious puberty-obesity syndrome 'X-linked intellectual disability-precocious puberty-obesity syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability-precocious puberty-obesity syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019416 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome 'X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019426 X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome 'X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019428 fried syndrome 'fried syndrome' SubClassOf 'syndromic disease' 'fried syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019422 X-linked intellectual disability, Stevenson type 'X-linked intellectual disability, Stevenson type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Stevenson type' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019421 X-linked intellectual disability, Seemanova type 'X-linked intellectual disability, Seemanova type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Seemanova type' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019424 X-linked intellectual disability-acromegaly-hyperactivity syndrome 'X-linked intellectual disability-acromegaly-hyperactivity syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability-acromegaly-hyperactivity syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019423 X-linked intellectual disability, Stoll type 'X-linked intellectual disability, Stoll type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Stoll type' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019420 X-linked intellectual disability, Pai type 'X-linked intellectual disability, Pai type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Pai type' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019430 X-linked intellectual disability-ataxia-apraxia syndrome 'X-linked intellectual disability-ataxia-apraxia syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability-ataxia-apraxia syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019490 progressive familial heart block 'progressive familial heart block' SubClassOf 'genetic cardiac rhythm disease' 'progressive familial heart block' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009905 urban-Rogers-Meyer syndrome 'urban-Rogers-Meyer syndrome' SubClassOf 'congenital nervous system disorder' 'urban-Rogers-Meyer syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009910 Wiedemann-Rautenstrauch syndrome 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'congenital nervous system disorder' 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009925 autosomal recessive inherited pseudoxanthoma elasticum 'autosomal recessive inherited pseudoxanthoma elasticum' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://purl.obolibrary.org/obo/MONDO_0009921 holoprosencephaly-postaxial polydactyly syndrome 'holoprosencephaly-postaxial polydactyly syndrome' SubClassOf 'congenital nervous system disorder' 'holoprosencephaly-postaxial polydactyly syndrome' SubClassOf 'syndromic intellectual disability' 'holoprosencephaly-postaxial polydactyly syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009945 pyridoxine-dependent epilepsy 'pyridoxine-dependent epilepsy' SubClassOf 'monogenic epilepsy' http://purl.obolibrary.org/obo/MONDO_0009952 radioulnar synostosis-developmental delay-hypotonia syndrome 'radioulnar synostosis-developmental delay-hypotonia syndrome' SubClassOf 'syndromic intellectual disability' http://www.ebi.ac.uk/efo/EFO_1001857 Takayasu arteritis 'Takayasu arteritis' SubClassOf 'syndromic disease' 'Takayasu arteritis' SubClassOf 'secondary glomerular disease' 'Takayasu arteritis' SubClassOf 'inherited kidney disorder' 'Takayasu arteritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015236 'Takayasu arteritis' SubClassOf 'disorder of pharynx' 'Takayasu arteritis' SubClassOf 'genetic otorhinolaryngologic disease' http://purl.obolibrary.org/obo/MONDO_0009963 Ulbright-Hodes syndrome 'Ulbright-Hodes syndrome' SubClassOf 'syndromic intellectual disability' 'Ulbright-Hodes syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0010999 fallot complex-intellectual disability-growth delay syndrome 'fallot complex-intellectual disability-growth delay syndrome' SubClassOf 'syndromic intellectual disability' 'fallot complex-intellectual disability-growth delay syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0010993 Harrod syndrome 'Harrod syndrome' SubClassOf 'syndromic intellectual disability' 'Harrod syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0007355 uveal coloboma-cleft lip and palate-intellectual disability 'uveal coloboma-cleft lip and palate-intellectual disability' SubClassOf 'syndromic intellectual disability' 'uveal coloboma-cleft lip and palate-intellectual disability' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0044306 neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination 'neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination' SubClassOf 'syndromic intellectual disability' 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 'syndromic intellectual disability' 'intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0044318 intellectual developmental disorder with gastrointestinal difficulties and high pain threshold 'intellectual developmental disorder with gastrointestinal difficulties and high pain threshold' SubClassOf 'syndromic intellectual disability' 'intellectual developmental disorder with gastrointestinal difficulties and high pain threshold' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019342 Seckel syndrome 'Seckel syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007382 Ramos-Arroyo syndrome 'Ramos-Arroyo syndrome' SubClassOf 'syndromic intellectual disability' 'Ramos-Arroyo syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia 'Fanconi anemia' SubClassOf 'hyperpigmentation of the skin' http://purl.obolibrary.org/obo/MONDO_0044322 intellectual developmental disorder with neuropsychiatric features 'intellectual developmental disorder with neuropsychiatric features' SubClassOf 'syndromic intellectual disability' 'intellectual developmental disorder with neuropsychiatric features' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0044324 Al Kaissi syndrome 'Al Kaissi syndrome' SubClassOf 'syndromic intellectual disability' 'Al Kaissi syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0044326 developmental delay and seizures with or without movement abnormalities 'developmental delay and seizures with or without movement abnormalities' SubClassOf 'syndromic intellectual disability' 'developmental delay and seizures with or without movement abnormalities' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0015653 monogenic epilepsy 'monogenic epilepsy' SubClassOf 'motor stereotypies' 'monogenic epilepsy' SubClassOf 'genetic disorder' 'monogenic epilepsy' EquivalentTo 'epilepsy' and ('bearer_of' some 'inherited') 'monogenic epilepsy' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0013005 EAST syndrome 'EAST syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0013017 hypotrichosis 5 'hypotrichosis 5' SubClassOf 'genetic alopecia' 'hypotrichosis 5' SubClassOf 'Marie Unna hereditary hypotrichosis' http://purl.obolibrary.org/obo/MONDO_0025028 vesicular stomatitis 'vesicular stomatitis' SubClassOf 'Rhabdoviridae infectious disease' 'vesicular stomatitis' SubClassOf 'animal disease' 'vesicular stomatitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700072 http://purl.obolibrary.org/obo/MONDO_0013036 Zechi-Ceide syndrome 'Zechi-Ceide syndrome' SubClassOf 'syndromic intellectual disability' 'Zechi-Ceide syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0013090 chromosome 19q13.11 deletion syndrome 'chromosome 19q13.11 deletion syndrome' SubClassOf 'syndromic intellectual disability' 'chromosome 19q13.11 deletion syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0025082 helminthiasis, animal 'helminthiasis, animal' SubClassOf 'Helminthiasis' 'helminthiasis, animal' SubClassOf 'cross-species analog' some 'Helminthiasis' 'helminthiasis, animal' EquivalentTo 'animal disease' and ('cross-species analog' some 'Helminthiasis') http://purl.obolibrary.org/obo/MONDO_0025085 hepatitis, viral, animal 'hepatitis, viral, animal' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700053 http://www.orpha.net/ORDO/Orphanet_137608 Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus 'Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://purl.obolibrary.org/obo/MONDO_0015745 microcephaly-polymicrogyria-corpus callosum agenesis syndrome 'microcephaly-polymicrogyria-corpus callosum agenesis syndrome' SubClassOf 'syndromic intellectual disability' 'microcephaly-polymicrogyria-corpus callosum agenesis syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0015752 intellectual disability-cataracts-kyphosis syndrome 'intellectual disability-cataracts-kyphosis syndrome' SubClassOf 'syndromic intellectual disability' 'intellectual disability-cataracts-kyphosis syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0015600 X-linked intellectual disability, Cilliers type 'X-linked intellectual disability, Cilliers type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Cilliers type' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0015601 X-linked intellectual disability, van Esch type 'X-linked intellectual disability, van Esch type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, van Esch type' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0015634 isolated osteopoikilosis 'isolated osteopoikilosis' SubClassOf 'familial osteosclerosis' http://purl.obolibrary.org/obo/MONDO_0015431 ring chromosome 10 'ring chromosome 10' SubClassOf 'syndromic intellectual disability' 'ring chromosome 10' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0015454 multiple carboxylase deficiency 'multiple carboxylase deficiency' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0015458 intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome 'intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome' SubClassOf 'syndromic intellectual disability' 'intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0015452 Coffin-Siris syndrome 'Coffin-Siris syndrome' SubClassOf 'congenital limb malformation' 'Coffin-Siris syndrome' SubClassOf 'congenital nervous system disorder' 'Coffin-Siris syndrome' SubClassOf 'syndromic intellectual disability' 'Coffin-Siris syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0015463 craniodigital syndrome-intellectual disability syndrome 'craniodigital syndrome-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'craniodigital syndrome-intellectual disability syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0015473 cryptorchidism-arachnodactyly-intellectual disability syndrome 'cryptorchidism-arachnodactyly-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'cryptorchidism-arachnodactyly-intellectual disability syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/CL_0000165 neuroendocrine cell 'neuroendocrine cell' SubClassOf 'somatic cell' 'neuroendocrine cell' SubClassOf 'electrically active cell' 'neuroendocrine cell' SubClassOf 'neuron' http://www.ebi.ac.uk/efo/EFO_0004145 myopathy 'myopathy' SubClassOf 'muscular disease' http://purl.obolibrary.org/obo/MONDO_0017950 microcephalic primordial dwarfism 'microcephalic primordial dwarfism' SubClassOf 'syndromic intellectual disability' 'microcephalic primordial dwarfism' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0015308 laminopathy type Decaudain-Vigouroux 'laminopathy type Decaudain-Vigouroux' SubClassOf 'diabetes mellitus' http://purl.obolibrary.org/obo/MONDO_0015325 cataract-deafness-hypogonadism syndrome 'cataract-deafness-hypogonadism syndrome' SubClassOf 'syndromic intellectual disability' 'cataract-deafness-hypogonadism syndrome' SubClassOf 'congenital nervous system disorder' 'cataract-deafness-hypogonadism syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0015324 cataract-intellectual disability-anal atresia-urinary defects syndrome 'cataract-intellectual disability-anal atresia-urinary defects syndrome' SubClassOf 'congenital nervous system disorder' 'cataract-intellectual disability-anal atresia-urinary defects syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0017989 His bundle tachycardia 'His bundle tachycardia' SubClassOf 'genetic cardiac rhythm disease' 'His bundle tachycardia' SubClassOf 'cardiac rhythm disease' http://purl.obolibrary.org/obo/MONDO_0017995 spondylocostal dysostosis-hypospadias-intellectual disability syndrome 'spondylocostal dysostosis-hypospadias-intellectual disability syndrome' SubClassOf 'congenital nervous system disorder' 'spondylocostal dysostosis-hypospadias-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0017867 distal 17p13.1 microdeletion syndrome 'distal 17p13.1 microdeletion syndrome' SubClassOf 'syndromic intellectual disability' 'distal 17p13.1 microdeletion syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0015234 arachnodactyly-abnormal ossification-intellectual disability syndrome 'arachnodactyly-abnormal ossification-intellectual disability syndrome' SubClassOf 'congenital nervous system disorder' 'arachnodactyly-abnormal ossification-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0015233 caudal appendage-deafness syndrome 'caudal appendage-deafness syndrome' SubClassOf 'congenital nervous system disorder' 'caudal appendage-deafness syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0015259 brachydactyly-mesomelia-intellectual disability-heart defects syndrome 'brachydactyly-mesomelia-intellectual disability-heart defects syndrome' SubClassOf 'syndromic intellectual disability' 'brachydactyly-mesomelia-intellectual disability-heart defects syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0015257 sino-auricular heart block 'sino-auricular heart block' SubClassOf 'genetic cardiac rhythm disease' 'sino-auricular heart block' SubClassOf 'cardiac rhythm disease' http://purl.obolibrary.org/obo/MONDO_0015263 Brugada syndrome 'Brugada syndrome' SubClassOf 'genetic cardiac rhythm disease' 'Brugada syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0015280 cardiofaciocutaneous syndrome 'cardiofaciocutaneous syndrome' SubClassOf 'syndromic intellectual disability' 'cardiofaciocutaneous syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0015279 chronic mucocutaneous candidiasis 'chronic mucocutaneous candidiasis' SubClassOf 'skin disease' 'chronic mucocutaneous candidiasis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://purl.obolibrary.org/obo/MONDO_0015284 heart-hand syndrome type 2 'heart-hand syndrome type 2' SubClassOf 'genetic cardiac rhythm disease' http://purl.obolibrary.org/obo/MONDO_0015281 atrial standstill 'atrial standstill' SubClassOf 'genetic cardiac rhythm disease' http://purl.obolibrary.org/obo/MONDO_0015285 Carney complex 'Carney complex' SubClassOf 'disease has feature' some 'adrenal/paraganglial tumor' 'Carney complex' SubClassOf 'disease has feature' some 'adrenal gland neoplasm' http://purl.obolibrary.org/obo/MONDO_0017918 white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome 'white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0017922 deafness-onychodystrophy syndrome 'deafness-onychodystrophy syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0017924 central nervous system calcification-deafness-tubular acidosis-anemia syndrome 'central nervous system calcification-deafness-tubular acidosis-anemia syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0017920 deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome 'deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome' SubClassOf 'syndromic intellectual disability' 'deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0017934 aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome 'aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0030908 intellectual disability, X-linked, syndromic, 35 'intellectual disability, X-linked, syndromic, 35' SubClassOf 'X-linked syndromic intellectual disability' 'intellectual disability, X-linked, syndromic, 35' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0015110 genetic cardiac rhythm disease 'genetic cardiac rhythm disease' SubClassOf 'genetic disorder' 'genetic cardiac rhythm disease' SubClassOf 'bearer_of' some 'rare' 'genetic cardiac rhythm disease' SubClassOf 'cardiac rhythm disease' 'genetic cardiac rhythm disease' EquivalentTo 'cardiac rhythm disease' and ('bearer_of' some 'inherited') 'genetic cardiac rhythm disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017782 developmental and speech delay due to SOX5 deficiency 'developmental and speech delay due to SOX5 deficiency' SubClassOf 'syndromic intellectual disability' 'developmental and speech delay due to SOX5 deficiency' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0015199 aniridia - intellectual disability syndrome 'aniridia - intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0015198 aniridia-ptosis-intellectual disability-familial obesity syndrome 'aniridia-ptosis-intellectual disability-familial obesity syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0017805 intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome 'intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome' SubClassOf 'congenital nervous system disorder' 'intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome' SubClassOf 'syndromic intellectual disability' http://www.ebi.ac.uk/efo/EFO_0004278 sudden cardiac arrest 'sudden cardiac arrest' SubClassOf 'cardiac rhythm disease' http://purl.obolibrary.org/obo/MONDO_0017813 van Maldergem syndrome 'van Maldergem syndrome' SubClassOf 'syndromic intellectual disability' 'van Maldergem syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0017614 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome 'X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0017615 benign familial infantile epilepsy 'benign familial infantile epilepsy' SubClassOf 'genetic disorder' 'benign familial infantile epilepsy' SubClassOf 'monogenic epilepsy' http://purl.obolibrary.org/obo/MONDO_0017616 X-linked intellectual disability, Schutz type 'X-linked intellectual disability, Schutz type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Schutz type' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0017613 intellectual disability-hypotonia-skin hyperpigmentation syndrome 'intellectual disability-hypotonia-skin hyperpigmentation syndrome' SubClassOf 'syndromic intellectual disability' 'intellectual disability-hypotonia-skin hyperpigmentation syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0017642 intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome 'intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome' SubClassOf 'syndromic intellectual disability' 'intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0017668 intellectual disability-short stature-hypertelorism syndrome 'intellectual disability-short stature-hypertelorism syndrome' SubClassOf 'congenital nervous system disorder' 'intellectual disability-short stature-hypertelorism syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0017682 intellectual disability-polydactyly-uncombable hair syndrome 'intellectual disability-polydactyly-uncombable hair syndrome' SubClassOf 'congenital nervous system disorder' 'intellectual disability-polydactyly-uncombable hair syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0015077 adrenal/paraganglial tumor 'adrenal/paraganglial tumor' SubClassOf 'adrenal gland neoplasm' 'adrenal/paraganglial tumor' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004540 chronic fatigue syndrome 'chronic fatigue syndrome' SubClassOf 'muscular disease' 'chronic fatigue syndrome' SubClassOf 'muscular disease' 'chronic fatigue syndrome' SubClassOf 'muscle tissue disorder' http://purl.obolibrary.org/obo/MONDO_0017704 familial partial epilepsy 'familial partial epilepsy' SubClassOf 'genetic disorder' 'familial partial epilepsy' SubClassOf 'monogenic epilepsy' http://purl.obolibrary.org/obo/MONDO_0013960 sinoatrial node dysfunction and deafness 'sinoatrial node dysfunction and deafness' SubClassOf 'genetic cardiac rhythm disease' 'sinoatrial node dysfunction and deafness' SubClassOf 'cardiac rhythm disease' http://purl.obolibrary.org/obo/MONDO_0011376 ventricular fibrillation, paroxysmal familial, type 1 'ventricular fibrillation, paroxysmal familial, type 1' SubClassOf 'genetic cardiac rhythm disease' http://purl.obolibrary.org/obo/MONDO_0011178 infantile convulsions and choreoathetosis 'infantile convulsions and choreoathetosis' SubClassOf 'monogenic epilepsy' http://purl.obolibrary.org/obo/MONDO_0035133 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 'PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0013806 familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome 'familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://purl.obolibrary.org/obo/MONDO_0013847 chromosome 16p11.2 duplication syndrome 'chromosome 16p11.2 duplication syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0011213 Pierpont syndrome 'Pierpont syndrome' SubClassOf 'syndromic intellectual disability' 'Pierpont syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0023224 inherited reflex epilepsy 'inherited reflex epilepsy' SubClassOf 'genetic disorder' 'inherited reflex epilepsy' SubClassOf 'monogenic epilepsy' http://purl.obolibrary.org/obo/MONDO_0011261 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability 'spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0011273 H syndrome 'H syndrome' SubClassOf 'diabetes mellitus' http://purl.obolibrary.org/obo/MONDO_0011053 intellectual disability-sparse hair-brachydactyly syndrome 'intellectual disability-sparse hair-brachydactyly syndrome' SubClassOf 'syndromic intellectual disability' 'intellectual disability-sparse hair-brachydactyly syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0001721 urethral intrinsic sphincter deficiency 'urethral intrinsic sphincter deficiency' SubClassOf 'muscular disease' http://purl.obolibrary.org/obo/MONDO_0013735 microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome 'microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome' SubClassOf 'syndromic intellectual disability' 'microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0013746 ventricular septal defect 1 'ventricular septal defect 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100009 http://purl.obolibrary.org/obo/MONDO_0013747 atrioventricular septal defect 4 'atrioventricular septal defect 4' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100009 http://purl.obolibrary.org/obo/MONDO_0013784 neonatal-onset encephalopathy with rigidity and seizures 'neonatal-onset encephalopathy with rigidity and seizures' SubClassOf 'monogenic epilepsy' http://purl.obolibrary.org/obo/MONDO_0011157 Gomez-Lopez-Hernandez syndrome 'Gomez-Lopez-Hernandez syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0011152 PHGDH deficiency 'PHGDH deficiency' SubClassOf 'syndromic intellectual disability' http://www.ebi.ac.uk/efo/EFO_0008474 spine bone mineral density change measurement 'spine bone mineral density change measurement' SubClassOf 'is_about' some 'bone element' 'spine bone mineral density change measurement' SubClassOf 'spine bone mineral density' 'spine bone mineral density change measurement' SubClassOf 'is_about' some 'bone element' 'spine bone mineral density change measurement' SubClassOf 'spine bone mineral density' http://www.orpha.net/ORDO/Orphanet_47045 Familial cold urticaria 'Familial cold urticaria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://purl.obolibrary.org/obo/MONDO_0013646 chromosome 8q21.11 deletion syndrome 'chromosome 8q21.11 deletion syndrome' SubClassOf 'congenital nervous system disorder' 'chromosome 8q21.11 deletion syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0011011 skeletal dysplasia-epilepsy-short stature syndrome 'skeletal dysplasia-epilepsy-short stature syndrome' SubClassOf 'congenital nervous system disorder' 'skeletal dysplasia-epilepsy-short stature syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0011024 dermatitis herpetiformis, familial 'dermatitis herpetiformis, familial' SubClassOf 'genetic disorder' 'dermatitis herpetiformis, familial' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://purl.obolibrary.org/obo/MONDO_0011035 neurofibromatosis-Noonan syndrome 'neurofibromatosis-Noonan syndrome' SubClassOf 'hyperpigmentation of the skin' http://purl.obolibrary.org/obo/MONDO_0011045 MMEP syndrome 'MMEP syndrome' SubClassOf 'syndromic intellectual disability' 'MMEP syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0011048 epilepsy-microcephaly-skeletal dysplasia syndrome 'epilepsy-microcephaly-skeletal dysplasia syndrome' SubClassOf 'congenital nervous system disorder' 'epilepsy-microcephaly-skeletal dysplasia syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0011049 fine-Lubinsky syndrome 'fine-Lubinsky syndrome' SubClassOf 'congenital nervous system disorder' 'fine-Lubinsky syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0013478 PLIN1-related familial partial lipodystrophy 'PLIN1-related familial partial lipodystrophy' SubClassOf 'diabetes mellitus' http://purl.obolibrary.org/obo/MONDO_0013578 DYRK1A-related intellectual disability syndrome 'DYRK1A-related intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'DYRK1A-related intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0013352 intellectual disability-severe speech delay-mild dysmorphism syndrome 'intellectual disability-severe speech delay-mild dysmorphism syndrome' SubClassOf 'syndromic intellectual disability' 'intellectual disability-severe speech delay-mild dysmorphism syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0013362 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome 'THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome' SubClassOf 'syndromic intellectual disability' 'THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0013404 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase 'hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0013245 syndromic multisystem autoimmune disease due to ITCH deficiency 'syndromic multisystem autoimmune disease due to ITCH deficiency' SubClassOf 'syndromic intellectual disability' 'syndromic multisystem autoimmune disease due to ITCH deficiency' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0013256 chromosome 15q24 deletion syndrome 'chromosome 15q24 deletion syndrome' SubClassOf 'SIN3A-related intellectual disability syndrome' 'chromosome 15q24 deletion syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0013298 chromosome 17q21.31 duplication syndrome 'chromosome 17q21.31 duplication syndrome' SubClassOf 'syndromic intellectual disability' 'chromosome 17q21.31 duplication syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0003939 muscle tissue disorder 'muscle tissue disorder' SubClassOf 'muscular disease' 'muscle tissue disorder' SubClassOf 'musculoskeletal system disease' http://purl.obolibrary.org/obo/MONDO_0015934 non-syndromic urogenital tract malformation of male and female 'non-syndromic urogenital tract malformation of male and female' SubClassOf 'non-syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0015947 inherited ichthyosis 'inherited ichthyosis' SubClassOf 'genetic disorder' 'inherited ichthyosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://purl.obolibrary.org/obo/MONDO_0015941 epiphyseal dysplasia-hearing loss-dysmorphism syndrome 'epiphyseal dysplasia-hearing loss-dysmorphism syndrome' SubClassOf 'congenital nervous system disorder' 'epiphyseal dysplasia-hearing loss-dysmorphism syndrome' SubClassOf 'syndromic intellectual disability' 'epiphyseal dysplasia-hearing loss-dysmorphism syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0015951 hereditary photodermatosis 'hereditary photodermatosis' SubClassOf 'genetic disorder' 'hereditary photodermatosis' SubClassOf 'skin disease' 'hereditary photodermatosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://purl.obolibrary.org/obo/MONDO_0015950 inherited skin tumor 'inherited skin tumor' SubClassOf 'genetic disorder' 'inherited skin tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://purl.obolibrary.org/obo/MONDO_0013317 torsade-de-pointes syndrome with short coupling interval 'torsade-de-pointes syndrome with short coupling interval' SubClassOf 'genetic cardiac rhythm disease' 'torsade-de-pointes syndrome with short coupling interval' SubClassOf 'cardiac rhythm disease' http://purl.obolibrary.org/obo/MONDO_0013336 chromosome 19p13.13 deletion syndrome 'chromosome 19p13.13 deletion syndrome' SubClassOf 'congenital nervous system disorder' 'chromosome 19p13.13 deletion syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0015781 facial dysmorphism-shawl scrotum-joint laxity syndrome 'facial dysmorphism-shawl scrotum-joint laxity syndrome' SubClassOf 'syndromic intellectual disability' 'facial dysmorphism-shawl scrotum-joint laxity syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0013169 chromosome 5p13 duplication syndrome 'chromosome 5p13 duplication syndrome' SubClassOf 'congenital nervous system disorder' 'chromosome 5p13 duplication syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0013182 chromosome 17p13.3 duplication syndrome 'chromosome 17p13.3 duplication syndrome' SubClassOf 'congenital nervous system disorder' 'chromosome 17p13.3 duplication syndrome' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_140944 CLOVE syndrome 'CLOVE syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100118 http://purl.obolibrary.org/obo/MONDO_0013225 congenital generalized lipodystrophy type 4 'congenital generalized lipodystrophy type 4' SubClassOf 'diabetes mellitus' 'congenital generalized lipodystrophy type 4' SubClassOf 'genetic cardiac rhythm disease' http://purl.obolibrary.org/obo/MONDO_0100118 genetic skin disorder 'genetic skin disorder' SubClassOf 'skin disease' 'genetic skin disorder' EquivalentTo 'skin disease' and ('bearer_of' some 'inherited') 'genetic skin disorder' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0100009 structural congenital heart disease, multiple types - GATA4 'structural congenital heart disease, multiple types - GATA4' SubClassOf 'congenital heart disease' http://www.ebi.ac.uk/efo/EFO_0020071 alpha angle measurement 'alpha angle measurement' SubClassOf 'anthropometric measurement' 'alpha angle measurement' SubClassOf 'osteoarthritis biomarker measurement' http://www.ebi.ac.uk/efo/EFO_0020072 soluble CD163 measurement 'soluble CD163 measurement' SubClassOf 'blood protein measurement' http://purl.obolibrary.org/obo/MONDO_0700113 Anaplasmataceae infectious disease, non-human animal 'Anaplasmataceae infectious disease, non-human animal' SubClassOf 'cross-species analog' some 'primary Anaplasmataceae infectious disease' 'Anaplasmataceae infectious disease, non-human animal' SubClassOf 'bacterial infectious disease, non-human animal' 'Anaplasmataceae infectious disease, non-human animal' EquivalentTo 'animal disease' and ('cross-species analog' some 'primary Anaplasmataceae infectious disease') http://purl.obolibrary.org/obo/MONDO_0700114 vector-borne disease, non-human animal 'vector-borne disease, non-human animal' EquivalentTo 'animal disease' and ('cross-species analog' some 'vector-borne disease') 'vector-borne disease, non-human animal' SubClassOf 'infectious disease, non-human animal' 'vector-borne disease, non-human animal' SubClassOf 'cross-species analog' some 'vector-borne disease' http://purl.obolibrary.org/obo/MONDO_0700095 Reoviridae infectious disease, non-human animal 'Reoviridae infectious disease, non-human animal' SubClassOf 'cross-species analog' some 'Reoviridae infectious disease' 'Reoviridae infectious disease, non-human animal' SubClassOf 'viral infectious disease, non-human animal' 'Reoviridae infectious disease, non-human animal' EquivalentTo 'animal disease' and ('cross-species analog' some 'Reoviridae infectious disease') http://purl.obolibrary.org/obo/MONDO_0700072 Rhabdoviridae infectious disease, non-human animal 'Rhabdoviridae infectious disease, non-human animal' SubClassOf 'cross-species analog' some 'Rhabdoviridae infectious disease' 'Rhabdoviridae infectious disease, non-human animal' SubClassOf 'viral infectious disease, non-human animal' 'Rhabdoviridae infectious disease, non-human animal' EquivalentTo 'animal disease' and ('cross-species analog' some 'Rhabdoviridae infectious disease') http://purl.obolibrary.org/obo/MONDO_0700059 Actinobacillus infectious disease, non-human animal 'Actinobacillus infectious disease, non-human animal' SubClassOf 'cross-species analog' some 'Actinobacillus infectious disease' 'Actinobacillus infectious disease, non-human animal' EquivalentTo 'animal disease' and ('cross-species analog' some 'Actinobacillus infectious disease') 'Actinobacillus infectious disease, non-human animal' SubClassOf 'bacterial infectious disease, non-human animal' http://purl.obolibrary.org/obo/MONDO_0700053 viral infectious disease, non-human animal 'viral infectious disease, non-human animal' SubClassOf 'infectious disease, non-human animal' 'viral infectious disease, non-human animal' EquivalentTo 'animal disease' and ('cross-species analog' some 'viral disease') 'viral infectious disease, non-human animal' SubClassOf 'cross-species analog' some 'viral disease' http://purl.obolibrary.org/obo/MONDO_0700056 fungal infectious disease, non-human animal 'fungal infectious disease, non-human animal' SubClassOf 'cross-species analog' some 'fungal infectious disease' 'fungal infectious disease, non-human animal' EquivalentTo 'animal disease' and ('cross-species analog' some 'fungal infectious disease') 'fungal infectious disease, non-human animal' SubClassOf 'infectious disease, non-human animal' http://purl.obolibrary.org/obo/MONDO_0700050 bacterial infectious disease, non-human animal 'bacterial infectious disease, non-human animal' EquivalentTo 'animal disease' and ('cross-species analog' some 'bacterial disease') 'bacterial infectious disease, non-human animal' SubClassOf 'infectious disease, non-human animal' 'bacterial infectious disease, non-human animal' SubClassOf 'cross-species analog' some 'bacterial disease' http://purl.obolibrary.org/obo/MONDO_0700049 infectious disease, non-human animal 'infectious disease, non-human animal' SubClassOf 'cross-species analog' some 'infectious disease' 'infectious disease, non-human animal' EquivalentTo 'animal disease' and ('cross-species analog' some 'infectious disease') 'infectious disease, non-human animal' SubClassOf 'animal disease' http://www.ebi.ac.uk/efo/EFO_0803367 antihyperlipidemic drug use measurement 'antihyperlipidemic drug use measurement' SubClassOf 'drug use measurement' http://www.ebi.ac.uk/efo/EFO_0803368 internet addiction disorder 'internet addiction disorder' SubClassOf 'mental or behavioural disorder' http://purl.obolibrary.org/obo/MONDO_0700212 tuberculosis, non-human animal 'tuberculosis, non-human animal' EquivalentTo 'animal disease' and ('cross-species analog' some 'tuberculosis') 'tuberculosis, non-human animal' SubClassOf 'cross-species analog' some 'tuberculosis' 'tuberculosis, non-human animal' SubClassOf 'bacterial infectious disease, non-human animal' http://purl.obolibrary.org/obo/MONDO_0700211 Erysipelothrix infectious disease, non-human animal 'Erysipelothrix infectious disease, non-human animal' SubClassOf 'cross-species analog' some 'Erysipelothrix infectious disease' 'Erysipelothrix infectious disease, non-human animal' SubClassOf 'bacterial infectious disease, non-human animal' 'Erysipelothrix infectious disease, non-human animal' EquivalentTo 'animal disease' and ('cross-species analog' some 'Erysipelothrix infectious disease') http://purl.obolibrary.org/obo/MONDO_0700214 Herpesviridae infectious disease, non-human animal 'Herpesviridae infectious disease, non-human animal' SubClassOf 'viral infectious disease, non-human animal' 'Herpesviridae infectious disease, non-human animal' SubClassOf 'cross-species analog' some 'Herpesviridae infectious disease' 'Herpesviridae infectious disease, non-human animal' EquivalentTo 'animal disease' and ('cross-species analog' some 'Herpesviridae infectious disease') http://purl.obolibrary.org/obo/MONDO_0700213 trypanosomiasis, non-human animal 'trypanosomiasis, non-human animal' SubClassOf 'cross-species analog' some 'trypanosomiasis' 'trypanosomiasis, non-human animal' EquivalentTo 'animal disease' and ('cross-species analog' some 'trypanosomiasis') 'trypanosomiasis, non-human animal' SubClassOf 'protozoan infections, animal' http://purl.obolibrary.org/obo/MONDO_0700210 enterovirus infectious disease, non-human animal 'enterovirus infectious disease, non-human animal' EquivalentTo 'animal disease' and ('cross-species analog' some 'Enterovirus infectious disease') 'enterovirus infectious disease, non-human animal' SubClassOf 'viral infectious disease, non-human animal' 'enterovirus infectious disease, non-human animal' SubClassOf 'cross-species analog' some 'Enterovirus infectious disease' http://purl.obolibrary.org/obo/MONDO_0700209 Strongylida infectious disease, non-human animal 'Strongylida infectious disease, non-human animal' SubClassOf 'helminthiasis, animal' 'Strongylida infectious disease, non-human animal' SubClassOf 'cross-species analog' some 'Strongylida infectious disease' 'Strongylida infectious disease, non-human animal' EquivalentTo 'animal disease' and ('cross-species analog' some 'Strongylida infectious disease') http://purl.obolibrary.org/obo/MONDO_0700208 Caliciviridae infectious disease, non-human animal 'Caliciviridae infectious disease, non-human animal' SubClassOf 'viral infectious disease, non-human animal' 'Caliciviridae infectious disease, non-human animal' EquivalentTo 'animal disease' and ('cross-species analog' some 'Caliciviridae infectious disease') 'Caliciviridae infectious disease, non-human animal' SubClassOf 'cross-species analog' some 'Caliciviridae infectious disease' http://purl.obolibrary.org/obo/MONDO_0700205 ehrlichiosis, non-human animal 'ehrlichiosis, non-human animal' SubClassOf 'tick-borne infectious disease, non-human animal' 'ehrlichiosis, non-human animal' SubClassOf 'Anaplasmataceae infectious disease, non-human animal' 'ehrlichiosis, non-human animal' EquivalentTo 'animal disease' and ('cross-species analog' some 'ehrlichiosis') 'ehrlichiosis, non-human animal' SubClassOf 'cross-species analog' some 'ehrlichiosis' http://purl.obolibrary.org/obo/MONDO_0700204 trichostrongyloidiasis, non-human animal 'trichostrongyloidiasis, non-human animal' EquivalentTo 'animal disease' and ('cross-species analog' some 'trichostrongyloidiasis') 'trichostrongyloidiasis, non-human animal' SubClassOf 'cross-species analog' some 'trichostrongyloidiasis' 'trichostrongyloidiasis, non-human animal' SubClassOf 'Strongylida infectious disease, non-human animal' http://purl.obolibrary.org/obo/MONDO_0700206 Parvoviridae infectious disease, non-human animal 'Parvoviridae infectious disease, non-human animal' SubClassOf 'cross-species analog' some 'Parvoviridae infectious disease' 'Parvoviridae infectious disease, non-human animal' EquivalentTo 'animal disease' and ('cross-species analog' some 'Parvoviridae infectious disease') 'Parvoviridae infectious disease, non-human animal' SubClassOf 'infectious disease, non-human animal' http://purl.obolibrary.org/obo/MONDO_0700201 tick-borne infectious disease, non-human animal 'tick-borne infectious disease, non-human animal' EquivalentTo 'animal disease' and ('cross-species analog' some 'tick-borne infectious disease') 'tick-borne infectious disease, non-human animal' SubClassOf 'cross-species analog' some 'tick-borne infectious disease' 'tick-borne infectious disease, non-human animal' SubClassOf 'vector-borne disease, non-human animal' http://purl.obolibrary.org/obo/MONDO_0700203 pestivirus infectious disease, non-human animal 'pestivirus infectious disease, non-human animal' EquivalentTo 'animal disease' and ('cross-species analog' some 'Pestivirus infectious disease') 'pestivirus infectious disease, non-human animal' SubClassOf 'viral infectious disease, non-human animal' 'pestivirus infectious disease, non-human animal' SubClassOf 'cross-species analog' some 'Pestivirus infectious disease' http://purl.obolibrary.org/obo/MONDO_0700202 Bunyaviridae infectious disease, non-human animal 'Bunyaviridae infectious disease, non-human animal' SubClassOf 'cross-species analog' some 'Bunyaviridae infectious disease' 'Bunyaviridae infectious disease, non-human animal' SubClassOf 'viral infectious disease, non-human animal' 'Bunyaviridae infectious disease, non-human animal' EquivalentTo 'animal disease' and ('cross-species analog' some 'Bunyaviridae infectious disease') http://purl.obolibrary.org/obo/MONDO_0022606 branchial arch disease 'branchial arch disease' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0024982 salmonella infections, animal 'salmonella infections, animal' EquivalentTo 'animal disease' and ('cross-species analog' some 'salmonellosis') 'salmonella infections, animal' SubClassOf 'cross-species analog' some 'salmonellosis' 'salmonella infections, animal' SubClassOf 'bacterial infectious disease, non-human animal' http://purl.obolibrary.org/obo/MONDO_0015236 aortic arch defects 'aortic arch defects' SubClassOf 'congenital anomaly of the great arteries' 'aortic arch defects' SubClassOf 'branchial arch disease' 'aortic arch defects' SubClassOf 'syndromic respiratory or mediastinal malformation' 'aortic arch defects' SubClassOf 'respiratory malformation' http://purl.obolibrary.org/obo/OBA_2050099 age of onset of anorexia nervosa 'age of onset of anorexia nervosa' SubClassOf 'material property' 'age of onset of anorexia nervosa' SubClassOf 'Onset' 'age of onset of anorexia nervosa' EquivalentTo 'Onset' and ('characteristic of' some 'anorexia nervosa') 'age of onset of anorexia nervosa' SubClassOf 'characteristic of' some 'anorexia nervosa' http://purl.obolibrary.org/obo/MONDO_0025270 toxoplasmosis, non-human animal 'toxoplasmosis, non-human animal' SubClassOf 'cross-species analog' some 'toxoplasmosis' 'toxoplasmosis, non-human animal' EquivalentTo 'animal disease' and ('cross-species analog' some 'toxoplasmosis') 'toxoplasmosis, non-human animal' SubClassOf 'protozoan infections, animal' http://purl.obolibrary.org/obo/MONDO_0025114 protozoan infections, animal 'protozoan infections, animal' EquivalentTo 'animal disease' and ('cross-species analog' some 'protozoa infectious disease') 'protozoan infections, animal' SubClassOf 'parasitic disease, non-human animal' 'protozoan infections, animal' SubClassOf 'cross-species analog' some 'protozoa infectious disease' http://purl.obolibrary.org/obo/MONDO_0020606 sex-linked disease 'sex-linked disease' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0044699 SIN3A-related intellectual disability syndrome 'SIN3A-related intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'SIN3A-related intellectual disability syndrome' SubClassOf 'congenital nervous system disorder' 'SIN3A-related intellectual disability syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0015934 non-syndromic urogenital tract malformation of male and female 'non-syndromic urogenital tract malformation of male and female' SubClassOf 'non-syndromic urogenital tract malformation'