7957 5715 4 http://www.orpha.net/ORDO/Orphanet_309178 Tay-Sachs disease, B variant, infantile form 'Tay-Sachs disease, B variant, infantile form' SubClassOf 'Tay-Sachs disease' 'Tay-Sachs disease, B variant, infantile form' SubClassOf http://purl.obolibrary.org/obo/MONDO_0010100 http://www.ebi.ac.uk/efo/EFO_1000225 Duodenal Villous Adenoma 'Duodenal Villous Adenoma' SubClassOf 'villous adenoma' 'Duodenal Villous Adenoma' SubClassOf 'villous adenoma' http://www.ebi.ac.uk/efo/EFO_1000220 Disseminated Peritoneal Leiomyomatosis 'Disseminated Peritoneal Leiomyomatosis' SubClassOf 'leiomyomatosis' 'Disseminated Peritoneal Leiomyomatosis' SubClassOf 'leiomyomatosis' http://www.orpha.net/ORDO/Orphanet_397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome 'Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome' SubClassOf 'Autosomal recessive cerebellar ataxia' 'Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome' SubClassOf 'syndromic intellectual disability' 'Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome' SubClassOf 'congenital nervous system disorder' 'Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome' SubClassOf 'central nervous system malformation' 'Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.ebi.ac.uk/efo/EFO_1000229 Eccrine Porocarcinoma 'Eccrine Porocarcinoma' SubClassOf 'eccrine carcinoma' 'Eccrine Porocarcinoma' SubClassOf 'eccrine carcinoma' http://www.orpha.net/ORDO/Orphanet_309185 Tay-Sachs disease, B variant, juvenile form 'Tay-Sachs disease, B variant, juvenile form' SubClassOf 'Tay-Sachs disease' 'Tay-Sachs disease, B variant, juvenile form' SubClassOf http://purl.obolibrary.org/obo/MONDO_0010100 http://www.orpha.net/ORDO/Orphanet_397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy 'Joubert syndrome with Jeune asphyxiating thoracic dystrophy' SubClassOf 'Short rib-polydactyly syndrome' 'Joubert syndrome with Jeune asphyxiating thoracic dystrophy' SubClassOf 'Joubert syndrome and related disorders' 'Joubert syndrome with Jeune asphyxiating thoracic dystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000236 Endometrial Mucinous Adenocarcinoma 'Endometrial Mucinous Adenocarcinoma' SubClassOf 'mucinous carcinoma' 'Endometrial Mucinous Adenocarcinoma' SubClassOf 'mucinous carcinoma' http://www.ebi.ac.uk/efo/EFO_1000233 Endometrial Endometrioid Adenocarcinoma 'Endometrial Endometrioid Adenocarcinoma' SubClassOf 'endometrioid carcinoma' 'Endometrial Endometrioid Adenocarcinoma' SubClassOf 'endometrioid carcinoma' http://www.ebi.ac.uk/efo/EFO_1000231 Endometrial Clear Cell Adenocarcinoma 'Endometrial Clear Cell Adenocarcinoma' SubClassOf 'clear cell adenocarcinoma' 'Endometrial Clear Cell Adenocarcinoma' SubClassOf 'clear cell adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1000239 Endometrial Small Cell Carcinoma 'Endometrial Small Cell Carcinoma' SubClassOf 'small cell carcinoma' 'Endometrial Small Cell Carcinoma' SubClassOf 'small cell carcinoma' http://www.ebi.ac.uk/efo/EFO_1000237 Endometrial Polyp 'Endometrial Polyp' SubClassOf 'uterine polyp' 'Endometrial Polyp' SubClassOf 'uterine polyp' http://www.ebi.ac.uk/efo/EFO_1000238 Endometrial Serous Adenocarcinoma 'Endometrial Serous Adenocarcinoma' SubClassOf 'serous adenocarcinoma' 'Endometrial Serous Adenocarcinoma' SubClassOf 'serous adenocarcinoma' http://www.orpha.net/ORDO/Orphanet_309152 GM2 gangliosidosis 'GM2 gangliosidosis' SubClassOf 'Genetic neurodegenerative disease' 'GM2 gangliosidosis' SubClassOf 'Gangliosidosis' 'GM2 gangliosidosis' SubClassOf 'Neurometabolic disease' 'GM2 gangliosidosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_309155 Sandhoff disease, infantile form 'Sandhoff disease, infantile form' SubClassOf 'Sandhoff disease' 'Sandhoff disease, infantile form' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000244 Epithelioid Cell Uveal Melanoma 'Epithelioid Cell Uveal Melanoma' SubClassOf 'epithelioid cell melanoma' 'Epithelioid Cell Uveal Melanoma' SubClassOf 'epithelioid cell melanoma' http://www.ebi.ac.uk/efo/EFO_1000242 Endometrial Undifferentiated Carcinoma 'Endometrial Undifferentiated Carcinoma' SubClassOf 'undifferentiated carcinoma' 'Endometrial Undifferentiated Carcinoma' SubClassOf 'endometrial carcinoma' 'Endometrial Undifferentiated Carcinoma' SubClassOf 'undifferentiated carcinoma' 'Endometrial Undifferentiated Carcinoma' SubClassOf 'endometrial carcinoma' http://www.ebi.ac.uk/efo/EFO_1000240 Endometrial Squamous Cell Carcinoma 'Endometrial Squamous Cell Carcinoma' SubClassOf 'endometrial carcinoma' 'Endometrial Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' 'Endometrial Squamous Cell Carcinoma' SubClassOf 'endometrial carcinoma' 'Endometrial Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' http://www.orpha.net/ORDO/Orphanet_309162 Sandhoff disease, juvenile form 'Sandhoff disease, juvenile form' SubClassOf 'Sandhoff disease' 'Sandhoff disease, juvenile form' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_309169 Sandhoff disease, adult form 'Sandhoff disease, adult form' SubClassOf 'Sandhoff disease' 'Sandhoff disease, adult form' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000253 Fallopian Tube Serous Adenocarcinoma 'Fallopian Tube Serous Adenocarcinoma' SubClassOf 'serous adenocarcinoma' 'Fallopian Tube Serous Adenocarcinoma' SubClassOf 'serous adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1000251 Fallopian Tube Carcinoma 'Fallopian Tube Carcinoma' SubClassOf 'carcinoma' 'Fallopian Tube Carcinoma' SubClassOf 'fallopian tube cancer' 'Fallopian Tube Carcinoma' SubClassOf 'carcinoma' 'Fallopian Tube Carcinoma' SubClassOf 'fallopian tube cancer' http://www.ebi.ac.uk/efo/EFO_1000252 Fallopian Tube Carcinosarcoma 'Fallopian Tube Carcinosarcoma' SubClassOf 'Fallopian Tube Carcinoma' 'Fallopian Tube Carcinosarcoma' SubClassOf 'carcinosarcoma' 'Fallopian Tube Carcinosarcoma' SubClassOf 'Fallopian Tube Carcinoma' 'Fallopian Tube Carcinosarcoma' SubClassOf 'carcinosarcoma' http://www.ebi.ac.uk/efo/EFO_1000259 Flat Urothelial Hyperplasia 'Flat Urothelial Hyperplasia' SubClassOf 'urothelial hyperplasia' 'Flat Urothelial Hyperplasia' SubClassOf 'urothelial hyperplasia' http://www.orpha.net/ORDO/Orphanet_322126 Genetic tumor of hematopoietic and lymphoid tissues 'Genetic tumor of hematopoietic and lymphoid tissues' SubClassOf 'hematopoietic and lymphoid system neoplasm' 'Genetic tumor of hematopoietic and lymphoid tissues' SubClassOf 'hematologic disease' http://www.ebi.ac.uk/efo/EFO_1000260 Floor of Mouth Mucoepidermoid Carcinoma 'Floor of Mouth Mucoepidermoid Carcinoma' SubClassOf 'carcinoma of floor of mouth' 'Floor of Mouth Mucoepidermoid Carcinoma' SubClassOf 'carcinoma of floor of mouth' http://www.orpha.net/ORDO/Orphanet_309130 Disorder of carnitine cycle and carnitine transport 'Disorder of carnitine cycle and carnitine transport' SubClassOf 'Disorder of fatty acid oxidation and ketone body metabolism' 'Disorder of carnitine cycle and carnitine transport' SubClassOf 'Disorder of fatty acid oxidation and ketone body metabolism' http://www.ebi.ac.uk/efo/EFO_1000266 Gallbladder Small Cell Neuroendocrine Carcinoma 'Gallbladder Small Cell Neuroendocrine Carcinoma' SubClassOf 'gallbladder carcinoma' 'Gallbladder Small Cell Neuroendocrine Carcinoma' SubClassOf 'small cell carcinoma' 'Gallbladder Small Cell Neuroendocrine Carcinoma' SubClassOf 'gallbladder carcinoma' 'Gallbladder Small Cell Neuroendocrine Carcinoma' SubClassOf 'Genetic endocrine tumor' 'Gallbladder Small Cell Neuroendocrine Carcinoma' SubClassOf 'small cell carcinoma' http://www.ebi.ac.uk/efo/EFO_1000267 Gallbladder Squamous Cell Carcinoma 'Gallbladder Squamous Cell Carcinoma' SubClassOf 'gallbladder carcinoma' 'Gallbladder Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' 'Gallbladder Squamous Cell Carcinoma' SubClassOf 'gallbladder carcinoma' 'Gallbladder Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' http://www.ebi.ac.uk/efo/EFO_1000264 Gallbladder Adenosquamous Carcinoma 'Gallbladder Adenosquamous Carcinoma' SubClassOf 'Adenosquamous Carcinoma' 'Gallbladder Adenosquamous Carcinoma' SubClassOf 'Adenosquamous Carcinoma' http://www.ebi.ac.uk/efo/EFO_1000262 Gallbladder Adenocarcinoma 'Gallbladder Adenocarcinoma' SubClassOf 'gallbladder carcinoma' 'Gallbladder Adenocarcinoma' SubClassOf 'adenocarcinoma' 'Gallbladder Adenocarcinoma' SubClassOf 'gallbladder carcinoma' 'Gallbladder Adenocarcinoma' SubClassOf 'adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1000263 Gallbladder Adenoma 'Gallbladder Adenoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017128 http://www.orpha.net/ORDO/Orphanet_397750 Periodic paralysis with later-onset distal motor neuropathy 'Periodic paralysis with later-onset distal motor neuropathy' SubClassOf 'familial periodic paralysis' 'Periodic paralysis with later-onset distal motor neuropathy' SubClassOf 'Mitochondrial myopathy' 'Periodic paralysis with later-onset distal motor neuropathy' SubClassOf 'periodic paralysis' 'Periodic paralysis with later-onset distal motor neuropathy' SubClassOf 'neuromuscular disease' http://www.orpha.net/ORDO/Orphanet_397755 Periodic paralysis with transient compartment-like syndrome 'Periodic paralysis with transient compartment-like syndrome' SubClassOf 'muscular channelopathy' 'Periodic paralysis with transient compartment-like syndrome' SubClassOf 'periodic paralysis' 'Periodic paralysis with transient compartment-like syndrome' SubClassOf 'familial periodic paralysis' http://www.orpha.net/ORDO/Orphanet_309147 Hyper-beta-alaninemia 'Hyper-beta-alaninemia' SubClassOf 'Disorder of pyrimidine metabolism' 'Hyper-beta-alaninemia' SubClassOf 'Disorder of pyrimidine metabolism' http://www.orpha.net/ORDO/Orphanet_309144 Gangliosidosis 'Gangliosidosis' SubClassOf 'Sphingolipidosis' 'Gangliosidosis' SubClassOf 'Sphingolipidosis' http://www.orpha.net/ORDO/Orphanet_397758 Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies 'Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies' SubClassOf 'Retinal dystrophy' 'Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies' SubClassOf 'Retinal dystrophy' http://www.ebi.ac.uk/efo/EFO_1000277 Gastric Small Cell Neuroendocrine Carcinoma 'Gastric Small Cell Neuroendocrine Carcinoma' SubClassOf 'small cell carcinoma' 'Gastric Small Cell Neuroendocrine Carcinoma' SubClassOf 'small cell carcinoma' http://www.ebi.ac.uk/efo/EFO_1000278 Gastric Squamous Cell Carcinoma 'Gastric Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' 'Gastric Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' http://www.ebi.ac.uk/efo/EFO_1000276 Gastric Papillary Adenocarcinoma 'Gastric Papillary Adenocarcinoma' SubClassOf 'gastric adenocarcinoma' 'Gastric Papillary Adenocarcinoma' SubClassOf 'papillary adenocarcinoma' 'Gastric Papillary Adenocarcinoma' SubClassOf 'gastric adenocarcinoma' 'Gastric Papillary Adenocarcinoma' SubClassOf 'papillary adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1000274 Gastric Mucosa-Associated Lymphoid Tissue Lymphoma 'Gastric Mucosa-Associated Lymphoid Tissue Lymphoma' SubClassOf 'MALT lymphoma' 'Gastric Mucosa-Associated Lymphoid Tissue Lymphoma' SubClassOf 'MALT lymphoma' 'Gastric Mucosa-Associated Lymphoid Tissue Lymphoma' SubClassOf 'Genetic digestive tract tumor' http://www.orpha.net/ORDO/Orphanet_324761 Microcephalic primordial dwarfism 'Microcephalic primordial dwarfism' SubClassOf 'syndromic intellectual disability' 'Microcephalic primordial dwarfism' SubClassOf 'congenital nervous system disorder' 'Microcephalic primordial dwarfism' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Microcephalic primordial dwarfism' SubClassOf 'Slender bone dysplasia' 'Microcephalic primordial dwarfism' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Microcephalic primordial dwarfism' SubClassOf 'Slender bone dysplasia' http://www.orpha.net/ORDO/Orphanet_324764 Trichorhinophalangeal syndrome 'Trichorhinophalangeal syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Trichorhinophalangeal syndrome' SubClassOf 'Acromelic dysplasia' 'Trichorhinophalangeal syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Trichorhinophalangeal syndrome' SubClassOf 'Acromelic dysplasia' http://www.ebi.ac.uk/efo/EFO_1000283 Grade III Prostatic Intraepithelial Neoplasia 'Grade III Prostatic Intraepithelial Neoplasia' SubClassOf 'in situ carcinoma' 'Grade III Prostatic Intraepithelial Neoplasia' SubClassOf 'prostate intraepithelial neoplasia' 'Grade III Prostatic Intraepithelial Neoplasia' SubClassOf 'in situ carcinoma' 'Grade III Prostatic Intraepithelial Neoplasia' SubClassOf 'prostate intraepithelial neoplasia' http://www.orpha.net/ORDO/Orphanet_309111 Combined pancreatic lipase-colipase deficiency 'Combined pancreatic lipase-colipase deficiency' SubClassOf 'Pancreatic triacylglycerol lipase deficiency' 'Combined pancreatic lipase-colipase deficiency' SubClassOf 'Disorder of lipid absorption and transport' http://www.orpha.net/ORDO/Orphanet_397725 COASY protein-associated neurodegeneration 'COASY protein-associated neurodegeneration' SubClassOf 'Neurodegeneration with brain iron accumulation' 'COASY protein-associated neurodegeneration' SubClassOf 'Neurodegeneration with brain iron accumulation' http://www.ebi.ac.uk/efo/EFO_1000286 Granulocytic Sarcoma 'Granulocytic Sarcoma' SubClassOf 'myeloid sarcoma' 'Granulocytic Sarcoma' SubClassOf 'myeloid sarcoma' http://www.ebi.ac.uk/efo/EFO_1000284 Granular Cell Tumor 'Granular Cell Tumor' SubClassOf 'nerve sheath neoplasm' 'Granular Cell Tumor' SubClassOf 'nerve sheath neoplasm' http://www.ebi.ac.uk/efo/EFO_1000285 Granular Cell Tumor of the Neurohypophysis 'Granular Cell Tumor of the Neurohypophysis' SubClassOf 'Granular Cell Tumor' 'Granular Cell Tumor of the Neurohypophysis' SubClassOf 'posterior pituitary gland neoplasm' 'Granular Cell Tumor of the Neurohypophysis' SubClassOf 'Granular Cell Tumor' 'Granular Cell Tumor of the Neurohypophysis' SubClassOf 'posterior pituitary gland neoplasm' http://www.orpha.net/ORDO/Orphanet_397735 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation 'Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation' SubClassOf 'Autosomal dominant Charcot-Marie-Tooth disease type 2' 'Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://www.orpha.net/ORDO/Orphanet_309115 Disorder of mitochondrial fatty acid oxidation 'Disorder of mitochondrial fatty acid oxidation' SubClassOf 'Disorder of fatty acid oxidation and ketone body metabolism' 'Disorder of mitochondrial fatty acid oxidation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_309120 Acyl-CoA dehydrogenase deficiency 'Acyl-CoA dehydrogenase deficiency' SubClassOf 'Disorder of mitochondrial fatty acid oxidation' 'Acyl-CoA dehydrogenase deficiency' SubClassOf 'disorder of fatty acid oxidation and ketogenesis' 'Acyl-CoA dehydrogenase deficiency' SubClassOf 'disorder of fatty acid oxidation and ketogenesis' http://www.orpha.net/ORDO/Orphanet_69126 Pyogenic arthritis - pyoderma gangrenosum - acne 'Pyogenic arthritis - pyoderma gangrenosum - acne' SubClassOf 'hereditary disorder of connective tissue' 'Pyogenic arthritis - pyoderma gangrenosum - acne' SubClassOf 'pyogenic autoinflammatory syndrome' http://www.orpha.net/ORDO/Orphanet_69125 Anonychia with flexural pigmentation 'Anonychia with flexural pigmentation' SubClassOf 'Ectodermal dysplasia syndrome' 'Anonychia with flexural pigmentation' SubClassOf 'Syndromic nail anomaly' 'Anonychia with flexural pigmentation' SubClassOf 'Ectodermal dysplasia syndrome' 'Anonychia with flexural pigmentation' SubClassOf 'Syndromic nail anomaly' http://www.ebi.ac.uk/efo/EFO_1000297 Histiocytic and Dendritic Cell Neoplasm 'Histiocytic and Dendritic Cell Neoplasm' SubClassOf 'Genetic tumor of hematopoietic and lymphoid tissues' http://www.orpha.net/ORDO/Orphanet_397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome 'Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome' SubClassOf 'Syndromic genetic deafness' 'Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome' SubClassOf 'Autosomal dominant distal hereditary motor neuropathy' 'Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome' SubClassOf 'Autosomal dominant distal myopathy' 'Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome' SubClassOf 'Syndromic genetic deafness' 'Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome' SubClassOf 'Autosomal dominant distal hereditary motor neuropathy' 'Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome' SubClassOf 'Autosomal dominant distal myopathy' http://www.orpha.net/ORDO/Orphanet_309127 3-hydroxyacyl-CoA dehydrogenase deficiency '3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'Disorder of mitochondrial fatty acid oxidation' '3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'disorder of fatty acid oxidation and ketogenesis' '3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_251262 Familial osteochondritis dissecans 'Familial osteochondritis dissecans' SubClassOf 'Osteonecrosis of genetic origin' 'Familial osteochondritis dissecans' SubClassOf 'Aggrecan-related bone disorder' 'Familial osteochondritis dissecans' SubClassOf 'Osteonecrosis of genetic origin' 'Familial osteochondritis dissecans' SubClassOf 'Aggrecan-related bone disorder' http://www.orpha.net/ORDO/Orphanet_94145 Autosomal dominant cerebellar ataxia type 1 'Autosomal dominant cerebellar ataxia type 1' SubClassOf 'Autosomal dominant cerebellar ataxia' 'Autosomal dominant cerebellar ataxia type 1' SubClassOf 'Autosomal dominant cerebellar ataxia' http://www.orpha.net/ORDO/Orphanet_251274 Familial hyperaldosteronism type III 'Familial hyperaldosteronism type III' SubClassOf 'Familial hyperaldosteronism' 'Familial hyperaldosteronism type III' SubClassOf 'Genetic hyperaldosteronism' 'Familial hyperaldosteronism type III' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016525 http://www.orpha.net/ORDO/Orphanet_226298 Central congenital hypothyroidism 'Central congenital hypothyroidism' SubClassOf 'Permanent congenital hypothyroidism' 'Central congenital hypothyroidism' SubClassOf 'Permanent congenital hypothyroidism' http://www.orpha.net/ORDO/Orphanet_251279 Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen 'Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen' SubClassOf 'isolated microphthalmia' http://www.orpha.net/ORDO/Orphanet_94149 Autosomal dominant cerebellar ataxia type 4 'Autosomal dominant cerebellar ataxia type 4' SubClassOf 'Autosomal dominant cerebellar ataxia' 'Autosomal dominant cerebellar ataxia type 4' SubClassOf 'Autosomal dominant cerebellar ataxia' http://www.orpha.net/ORDO/Orphanet_94148 Autosomal dominant cerebellar ataxia type 3 'Autosomal dominant cerebellar ataxia type 3' SubClassOf 'Autosomal dominant cerebellar ataxia' 'Autosomal dominant cerebellar ataxia type 3' SubClassOf 'Autosomal dominant cerebellar ataxia' http://www.orpha.net/ORDO/Orphanet_94147 Spinocerebellar ataxia type 7 'Spinocerebellar ataxia type 7' SubClassOf 'Autosomal dominant cerebellar ataxia type 2' 'Spinocerebellar ataxia type 7' SubClassOf 'Autosomal dominant cerebellar ataxia type 2' http://www.ebi.ac.uk/efo/EFO_0000402 diffuse gastric adenocarcinoma 'diffuse gastric adenocarcinoma' SubClassOf 'gastric adenocarcinoma' 'diffuse gastric adenocarcinoma' SubClassOf 'diffuse type adenocarcinoma' 'diffuse gastric adenocarcinoma' SubClassOf 'gastric adenocarcinoma' 'diffuse gastric adenocarcinoma' SubClassOf 'diffuse type adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0000404 diffuse scleroderma 'diffuse scleroderma' SubClassOf 'systemic scleroderma' 'diffuse scleroderma' SubClassOf 'systemic scleroderma' http://www.orpha.net/ORDO/Orphanet_289891 Hypermethioninemia due to glycine N-methyltransferase deficiency 'Hypermethioninemia due to glycine N-methyltransferase deficiency' SubClassOf 'Disorder of methionine cycle and sulfur amino acid metabolism' 'Hypermethioninemia due to glycine N-methyltransferase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000407 dilated cardiomyopathy 'dilated cardiomyopathy' SubClassOf 'intrinsic cardiomyopathy' 'dilated cardiomyopathy' SubClassOf 'intrinsic cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_289899 Organic aciduria 'Organic aciduria' SubClassOf 'disorder of organic acid metabolism' http://www.orpha.net/ORDO/Orphanet_226292 Permanent congenital hypothyroidism 'Permanent congenital hypothyroidism' SubClassOf 'genetic endocrine growth disease' 'Permanent congenital hypothyroidism' SubClassOf 'Congenital hypothyroidism' 'Permanent congenital hypothyroidism' SubClassOf 'Congenital hypothyroidism' http://www.orpha.net/ORDO/Orphanet_226295 Primary congenital hypothyroidism 'Primary congenital hypothyroidism' SubClassOf 'Permanent congenital hypothyroidism' 'Primary congenital hypothyroidism' SubClassOf 'Permanent congenital hypothyroidism' http://www.orpha.net/ORDO/Orphanet_94150 Anonychia congenita totalis 'Anonychia congenita totalis' SubClassOf 'Congenital anonychia' 'Anonychia congenita totalis' SubClassOf 'Congenital anonychia' http://www.ebi.ac.uk/efo/EFO_0000432 breast ductal carcinoma in situ 'breast ductal carcinoma in situ' SubClassOf 'breast carcinoma in situ' 'breast ductal carcinoma in situ' SubClassOf 'breast ductal adenocarcinoma' 'breast ductal carcinoma in situ' SubClassOf 'breast carcinoma in situ' 'breast ductal carcinoma in situ' SubClassOf 'breast ductal adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0000437 embryonal rhabdomyosarcoma 'embryonal rhabdomyosarcoma' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_263297 Glycogen storage disease due to glycogenin deficiency 'Glycogen storage disease due to glycogenin deficiency' SubClassOf 'Glycogen storage disease' 'Glycogen storage disease due to glycogenin deficiency' SubClassOf 'Muscular glycogenosis' 'Glycogen storage disease due to glycogenin deficiency' SubClassOf 'Glycogen storage disease' 'Glycogen storage disease due to glycogenin deficiency' SubClassOf 'Muscular glycogenosis' http://purl.obolibrary.org/obo/MONDO_0021501 benign neoplasm of small intestine 'benign neoplasm of small intestine' SubClassOf 'intestinal benign neoplasm' 'benign neoplasm of small intestine' SubClassOf 'small intestine neoplasm' 'benign neoplasm of small intestine' SubClassOf 'intestinal benign neoplasm' 'benign neoplasm of small intestine' SubClassOf 'small intestine neoplasm' http://www.orpha.net/ORDO/Orphanet_289846 Glutathione synthetase deficiency with 5-oxoprolinuria 'Glutathione synthetase deficiency with 5-oxoprolinuria' SubClassOf 'Glutathione synthetase deficiency' 'Glutathione synthetase deficiency with 5-oxoprolinuria' SubClassOf 'Glutathione synthetase deficiency' http://www.orpha.net/ORDO/Orphanet_289841 Disorder of glutamine metabolism 'Disorder of glutamine metabolism' SubClassOf 'Disorder of amino acid and other organic acid metabolism' 'Disorder of glutamine metabolism' SubClassOf 'Disorder of amino acid and other organic acid metabolism' http://www.orpha.net/ORDO/Orphanet_289849 Glutathione synthetase deficiency without 5-oxoprolinuria 'Glutathione synthetase deficiency without 5-oxoprolinuria' SubClassOf 'Glutathione synthetase deficiency' 'Glutathione synthetase deficiency without 5-oxoprolinuria' SubClassOf 'Glutathione synthetase deficiency' http://www.orpha.net/ORDO/Orphanet_289857 Neonatal glycine encephalopathy 'Neonatal glycine encephalopathy' SubClassOf 'Glycine encephalopathy' 'Neonatal glycine encephalopathy' SubClassOf 'Glycine encephalopathy' http://www.orpha.net/ORDO/Orphanet_251287 Benign concentric annular macular dystrophy 'Benign concentric annular macular dystrophy' SubClassOf 'Genetic macular dystrophy' 'Benign concentric annular macular dystrophy' SubClassOf 'Genetic macular dystrophy' http://www.ebi.ac.uk/efo/EFO_1000200 Combined Lung Carcinoma 'Combined Lung Carcinoma' SubClassOf 'lung carcinoma' 'Combined Lung Carcinoma' SubClassOf 'lung carcinoma' http://www.orpha.net/ORDO/Orphanet_251282 Autosomal dominant spastic ataxia type 1 'Autosomal dominant spastic ataxia type 1' SubClassOf 'Autosomal dominant spastic ataxia' 'Autosomal dominant spastic ataxia type 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000478 esophageal adenocarcinoma 'esophageal adenocarcinoma' SubClassOf 'adenocarcinoma' 'esophageal adenocarcinoma' SubClassOf 'esophageal carcinoma' 'esophageal adenocarcinoma' SubClassOf 'adenocarcinoma' 'esophageal adenocarcinoma' SubClassOf 'esophageal carcinoma' http://www.orpha.net/ORDO/Orphanet_309192 Tay-Sachs disease, B variant, adult form 'Tay-Sachs disease, B variant, adult form' SubClassOf 'Tay-Sachs disease' 'Tay-Sachs disease, B variant, adult form' SubClassOf http://purl.obolibrary.org/obo/MONDO_0010100 http://www.ebi.ac.uk/efo/EFO_0000479 essential thrombocythemia 'essential thrombocythemia' SubClassOf 'Familial thrombocytosis' 'essential thrombocythemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019111 'essential thrombocythemia' SubClassOf 'hereditary disorder of connective tissue' http://www.orpha.net/ORDO/Orphanet_289860 Infantile glycine encephalopathy 'Infantile glycine encephalopathy' SubClassOf 'Glycine encephalopathy' 'Infantile glycine encephalopathy' SubClassOf 'Glycine encephalopathy' http://www.ebi.ac.uk/efo/EFO_1000208 Cortisol-Producing Adrenal Cortex Adenoma 'Cortisol-Producing Adrenal Cortex Adenoma' SubClassOf 'adrenocortical adenoma' 'Cortisol-Producing Adrenal Cortex Adenoma' SubClassOf 'adrenocortical adenoma' http://www.ebi.ac.uk/efo/EFO_1000204 Conjunctival Melanoma 'Conjunctival Melanoma' SubClassOf 'Familial melanoma' http://www.orpha.net/ORDO/Orphanet_289869 Disorder of ornithine metabolism 'Disorder of ornithine metabolism' SubClassOf 'Disorder of ornithine or proline metabolism' 'Disorder of ornithine metabolism' SubClassOf 'inherited amino acid metabolic disorder' 'Disorder of ornithine metabolism' SubClassOf 'Disorder of ornithine or proline metabolism' http://www.orpha.net/ORDO/Orphanet_94124 Spinocerebellar ataxia type 1 with axonal neuropathy 'Spinocerebellar ataxia type 1 with axonal neuropathy' SubClassOf 'Genetic peripheral neuropathy' 'Spinocerebellar ataxia type 1 with axonal neuropathy' SubClassOf 'spinocerebellar ataxia, autosomal recessive, with axonal neuropathy' 'Spinocerebellar ataxia type 1 with axonal neuropathy' SubClassOf 'Genetic peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0021525 benign neoplasm of corpus uteri 'benign neoplasm of corpus uteri' SubClassOf 'corpus uteri neoplasm' 'benign neoplasm of corpus uteri' SubClassOf 'uterine benign neoplasm' 'benign neoplasm of corpus uteri' SubClassOf 'corpus uteri neoplasm' 'benign neoplasm of corpus uteri' SubClassOf 'uterine benign neoplasm' http://www.orpha.net/ORDO/Orphanet_94122 Cerebellar ataxia, Cayman type 'Cerebellar ataxia, Cayman type' SubClassOf 'Autosomal recessive congenital cerebellar ataxia' 'Cerebellar ataxia, Cayman type' SubClassOf 'Autosomal recessive congenital cerebellar ataxia' http://www.orpha.net/ORDO/Orphanet_289866 Disorder of proline metabolism 'Disorder of proline metabolism' SubClassOf 'Disorder of ornithine or proline metabolism' 'Disorder of proline metabolism' SubClassOf 'inherited amino acid metabolic disorder' 'Disorder of proline metabolism' SubClassOf 'Disorder of ornithine or proline metabolism' http://www.orpha.net/ORDO/Orphanet_289863 Atypical glycine encephalopathy 'Atypical glycine encephalopathy' SubClassOf 'Glycine encephalopathy' 'Atypical glycine encephalopathy' SubClassOf 'Glycine encephalopathy' http://www.orpha.net/ORDO/Orphanet_94125 Recessive mitochondrial ataxia syndrome 'Recessive mitochondrial ataxia syndrome' SubClassOf 'Autosomal recessive metabolic cerebellar ataxia' 'Recessive mitochondrial ataxia syndrome' SubClassOf 'Ataxia neuropathy spectrum' 'Recessive mitochondrial ataxia syndrome' SubClassOf 'Autosomal recessive metabolic cerebellar ataxia' 'Recessive mitochondrial ataxia syndrome' SubClassOf 'Ataxia neuropathy spectrum' http://www.ebi.ac.uk/efo/EFO_1000214 Dedifferentiated Solitary Fibrous Tumor 'Dedifferentiated Solitary Fibrous Tumor' SubClassOf 'solitary fibrous tumor' 'Dedifferentiated Solitary Fibrous Tumor' SubClassOf 'solitary fibrous tumor' http://www.ebi.ac.uk/efo/EFO_1000212 Cutaneous Undifferentiated Pleomorphic Sarcoma 'Cutaneous Undifferentiated Pleomorphic Sarcoma' SubClassOf 'undifferentiated pleomorphic sarcoma' 'Cutaneous Undifferentiated Pleomorphic Sarcoma' SubClassOf 'undifferentiated pleomorphic sarcoma' http://www.orpha.net/ORDO/Orphanet_251290 Parietal foramina with cleidocranial dysplasia 'Parietal foramina with cleidocranial dysplasia' SubClassOf 'cranial malformation' 'Parietal foramina with cleidocranial dysplasia' SubClassOf 'Primary bone dysplasia' http://www.ebi.ac.uk/efo/EFO_0000466 endometrioid carcinoma 'endometrioid carcinoma' SubClassOf 'adenocarcinoma' 'endometrioid carcinoma' SubClassOf 'adenocarcinoma' http://www.orpha.net/ORDO/Orphanet_251295 Pigmented paravenous retinochoroidal atrophy 'Pigmented paravenous retinochoroidal atrophy' SubClassOf 'Retinal dystrophy' 'Pigmented paravenous retinochoroidal atrophy' SubClassOf 'Retinal dystrophy' http://www.ebi.ac.uk/efo/EFO_1000218 Digestive System Carcinoma 'Digestive System Carcinoma' SubClassOf 'carcinoma' 'Digestive System Carcinoma' SubClassOf 'carcinoma' http://www.orpha.net/ORDO/Orphanet_1383 Cataract - deafness - hypogonadism 'Cataract - deafness - hypogonadism' SubClassOf 'syndromic intellectual disability' 'Cataract - deafness - hypogonadism' SubClassOf 'congenital nervous system disorder' 'Cataract - deafness - hypogonadism' SubClassOf 'Syndromic genetic deafness' 'Cataract - deafness - hypogonadism' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Cataract - deafness - hypogonadism' SubClassOf 'Syndromic genetic deafness' 'Cataract - deafness - hypogonadism' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_1381 Cataract - intellectual disability - anal atresia - urinary defects 'Cataract - intellectual disability - anal atresia - urinary defects' SubClassOf 'Syndromic anorectal malformation' 'Cataract - intellectual disability - anal atresia - urinary defects' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Cataract - intellectual disability - anal atresia - urinary defects' SubClassOf 'Syndromic cataract' 'Cataract - intellectual disability - anal atresia - urinary defects' SubClassOf 'congenital nervous system disorder' 'Cataract - intellectual disability - anal atresia - urinary defects' SubClassOf 'syndromic intellectual disability' 'Cataract - intellectual disability - anal atresia - urinary defects' SubClassOf 'Syndromic anorectal malformation' 'Cataract - intellectual disability - anal atresia - urinary defects' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Cataract - intellectual disability - anal atresia - urinary defects' SubClassOf 'Syndromic cataract' http://www.orpha.net/ORDO/Orphanet_1380 Cataract - nephropathy - encephalopathy 'Cataract - nephropathy - encephalopathy' SubClassOf 'Syndromic urogenital tract malformation' 'Cataract - nephropathy - encephalopathy' SubClassOf 'syndromic intellectual disability' 'Cataract - nephropathy - encephalopathy' SubClassOf 'Syndromic renal or urinary tract malformation' 'Cataract - nephropathy - encephalopathy' SubClassOf 'Syndromic renal or urinary tract malformation' http://www.orpha.net/ORDO/Orphanet_1389 Cortical blindness - intellectual disability - polydactyly 'Cortical blindness - intellectual disability - polydactyly' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Cortical blindness - intellectual disability - polydactyly' SubClassOf 'Genetic neuro-ophthalmological disease' 'Cortical blindness - intellectual disability - polydactyly' SubClassOf 'congenital nervous system disorder' 'Cortical blindness - intellectual disability - polydactyly' SubClassOf 'syndromic intellectual disability' 'Cortical blindness - intellectual disability - polydactyly' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_1388 Catel-Manzke syndrome 'Catel-Manzke syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Catel-Manzke syndrome' SubClassOf 'congenital nervous system disorder' 'Catel-Manzke syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Catel-Manzke syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Catel-Manzke syndrome' SubClassOf 'Orofacial clefting syndrome' 'Catel-Manzke syndrome' SubClassOf 'syndromic intellectual disability' 'Catel-Manzke syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0008570 thyrotoxic periodic paralysis, susceptibility to, 1 'thyrotoxic periodic paralysis, susceptibility to, 1' SubClassOf 'Thyrotoxic periodic paralysis' 'thyrotoxic periodic paralysis, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019201 http://www.orpha.net/ORDO/Orphanet_1396 Cerebro-reno-digital syndrome 'Cerebro-reno-digital syndrome' SubClassOf 'Familial cystic renal disease' 'Cerebro-reno-digital syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Cerebro-reno-digital syndrome' SubClassOf 'Familial cystic renal disease' 'Cerebro-reno-digital syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' http://www.orpha.net/ORDO/Orphanet_1397 Cerebellum agenesis - hydrocephaly 'Cerebellum agenesis - hydrocephaly' SubClassOf 'X-linked syndromic intellectual disability' 'Cerebellum agenesis - hydrocephaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 http://www.orpha.net/ORDO/Orphanet_1394 Cerebro-facio-thoracic dysplasia 'Cerebro-facio-thoracic dysplasia' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Cerebro-facio-thoracic dysplasia' SubClassOf 'congenital nervous system disorder' 'Cerebro-facio-thoracic dysplasia' SubClassOf 'Rare genetic neurological disorder' 'Cerebro-facio-thoracic dysplasia' SubClassOf 'Dysostosis of genetic origin' 'Cerebro-facio-thoracic dysplasia' SubClassOf 'syndromic intellectual disability' 'Cerebro-facio-thoracic dysplasia' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_1393 Cerebro-costo-mandibular syndrome 'Cerebro-costo-mandibular syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Cerebro-costo-mandibular syndrome' SubClassOf 'Dysostosis of genetic origin' http://www.orpha.net/ORDO/Orphanet_1390 Night blindness - skeletal anomalies - dysmorphism 'Night blindness - skeletal anomalies - dysmorphism' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Night blindness - skeletal anomalies - dysmorphism' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0021533 intestinal neuroendocrine tumor G1 'intestinal neuroendocrine tumor G1' SubClassOf 'carcinoid tumor' 'intestinal neuroendocrine tumor G1' SubClassOf 'carcinoid tumor' http://www.ebi.ac.uk/efo/EFO_0000364 colon mucinous adenocarcinoma 'colon mucinous adenocarcinoma' SubClassOf 'mucinous carcinoma' 'colon mucinous adenocarcinoma' SubClassOf 'colon adenocarcinoma' 'colon mucinous adenocarcinoma' SubClassOf 'mucinous carcinoma' 'colon mucinous adenocarcinoma' SubClassOf 'colon adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0000365 colorectal adenocarcinoma 'colorectal adenocarcinoma' SubClassOf 'adenocarcinoma' 'colorectal adenocarcinoma' SubClassOf 'adenocarcinoma' http://www.orpha.net/ORDO/Orphanet_1399 Richards-Rundle syndrome 'Richards-Rundle syndrome' SubClassOf 'Syndromic genetic deafness' 'Richards-Rundle syndrome' SubClassOf 'hereditary ataxia' 'Richards-Rundle syndrome' SubClassOf 'Rare hereditary ataxia' 'Richards-Rundle syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000398 dermatomyositis 'dermatomyositis' SubClassOf 'polymyositis' 'dermatomyositis' SubClassOf 'genetic skin disease' 'dermatomyositis' SubClassOf 'hereditary disorder of connective tissue' 'dermatomyositis' SubClassOf 'polymyositis' http://www.orpha.net/ORDO/Orphanet_179494 Obesity due to leptin receptor gene deficiency 'Obesity due to leptin receptor gene deficiency' SubClassOf 'Isolated congenital hypogonadotropic hypogonadism' http://purl.obolibrary.org/obo/MONDO_0033545 mitochondrial DNA depletion syndrome 19 'mitochondrial DNA depletion syndrome 19' SubClassOf 'Mitochondrial DNA depletion syndrome' 'mitochondrial DNA depletion syndrome 19' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018158 http://www.orpha.net/ORDO/Orphanet_289829 Disorder of tryptophan metabolism 'Disorder of tryptophan metabolism' SubClassOf 'inherited amino acid metabolic disorder' 'Disorder of tryptophan metabolism' SubClassOf 'Disorder of amino acid and other organic acid metabolism' http://purl.obolibrary.org/obo/MONDO_0008597 trichorhinophalangeal syndrome, type III 'trichorhinophalangeal syndrome, type III' SubClassOf 'Trichorhinophalangeal syndrome type 1 and 3' 'trichorhinophalangeal syndrome, type III' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019176 http://purl.obolibrary.org/obo/MONDO_0008596 trichorhinophalangeal syndrome type I 'trichorhinophalangeal syndrome type I' SubClassOf 'Trichorhinophalangeal syndrome type 1 and 3' 'trichorhinophalangeal syndrome type I' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019176 http://www.orpha.net/ORDO/Orphanet_289832 Disorder of lysine and hydroxylysine metabolism 'Disorder of lysine and hydroxylysine metabolism' SubClassOf 'inborn disorder of aspartate family metabolism' 'Disorder of lysine and hydroxylysine metabolism' SubClassOf 'Disorder of amino acid and other organic acid metabolism' http://purl.obolibrary.org/obo/MONDO_0021581 connective tissue neoplasm 'connective tissue neoplasm' SubClassOf 'neoplasm' 'connective tissue neoplasm' SubClassOf 'neoplasm' http://www.orpha.net/ORDO/Orphanet_1342 Heart-hand syndrome type 3 'Heart-hand syndrome type 3' SubClassOf 'Holt-Oram syndrome' 'Heart-hand syndrome type 3' SubClassOf 'Heart-hand syndrome' 'Heart-hand syndrome type 3' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Heart-hand syndrome type 3' SubClassOf 'Genetic cardiac rhythm disease' http://purl.obolibrary.org/obo/MONDO_0021583 melanocytic skin neoplasm 'melanocytic skin neoplasm' SubClassOf 'melanocytic neoplasm' 'melanocytic skin neoplasm' SubClassOf 'skin neoplasm' 'melanocytic skin neoplasm' SubClassOf 'melanocytic neoplasm' 'melanocytic skin neoplasm' SubClassOf 'skin neoplasm' http://www.orpha.net/ORDO/Orphanet_1340 Cardiofaciocutaneous syndrome 'Cardiofaciocutaneous syndrome' SubClassOf 'congenital nervous system disorder' 'Cardiofaciocutaneous syndrome' SubClassOf 'Noonan syndrome and Noonan-related syndrome' 'Cardiofaciocutaneous syndrome' SubClassOf 'syndromic intellectual disability' 'Cardiofaciocutaneous syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Cardiofaciocutaneous syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Cardiofaciocutaneous syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Cardiofaciocutaneous syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Cardiofaciocutaneous syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020297 http://www.orpha.net/ORDO/Orphanet_1349 Maternally-inherited cardiomyopathy and hearing loss 'Maternally-inherited cardiomyopathy and hearing loss' SubClassOf 'Mitochondrial disease' http://www.orpha.net/ORDO/Orphanet_1345 Cardiomyopathy - cataract - hip spine disease 'Cardiomyopathy - cataract - hip spine disease' SubClassOf 'disease has major feature' some 'articular cartilage disorder' 'Cardiomyopathy - cataract - hip spine disease' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_1344 Atrial stand still 'Atrial stand still' SubClassOf 'Familial restrictive cardiomyopathy' 'Atrial stand still' SubClassOf 'Genetic cardiac rhythm disease' 'Atrial stand still' SubClassOf 'Familial restrictive cardiomyopathy' 'Atrial stand still' SubClassOf 'Genetic cardiac rhythm disease' http://purl.obolibrary.org/obo/MONDO_0033563 retinitis pigmentosa 90 'retinitis pigmentosa 90' SubClassOf 'Retinitis pigmentosa' 'retinitis pigmentosa 90' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019200 http://purl.obolibrary.org/obo/MONDO_0033562 neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia 'neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia' SubClassOf 'Rare genetic neurological disorder' 'neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.orpha.net/ORDO/Orphanet_1352 Atrioventricular defect - blepharophimosis -radial defects 'Atrioventricular defect - blepharophimosis -radial defects' SubClassOf 'Syndromic developmental defect of the eye' 'Atrioventricular defect - blepharophimosis -radial defects' SubClassOf 'Ptosis' 'Atrioventricular defect - blepharophimosis -radial defects' SubClassOf 'Rare syndrome with cardiac malformations' 'Atrioventricular defect - blepharophimosis -radial defects' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Atrioventricular defect - blepharophimosis -radial defects' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1350 Heart-hand syndrome type 2 'Heart-hand syndrome type 2' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Heart-hand syndrome type 2' SubClassOf 'Genetic cardiac rhythm disease' 'Heart-hand syndrome type 2' SubClassOf 'Heart-hand syndrome' 'Heart-hand syndrome type 2' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Heart-hand syndrome type 2' SubClassOf 'Genetic cardiac rhythm disease' 'Heart-hand syndrome type 2' SubClassOf 'Heart-hand syndrome' http://purl.obolibrary.org/obo/MONDO_0033557 hemophagocytic lymphohistiocytosis, familial, 6 'hemophagocytic lymphohistiocytosis, familial, 6' SubClassOf 'Primary hemophagocytic lymphohistiocytosis' 'hemophagocytic lymphohistiocytosis, familial, 6' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015541 http://www.orpha.net/ORDO/Orphanet_1358 Carey-Fineman-Ziter syndrome 'Carey-Fineman-Ziter syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Carey-Fineman-Ziter syndrome' SubClassOf 'Orofacial clefting syndrome' 'Carey-Fineman-Ziter syndrome' SubClassOf 'Orofacial clefting syndrome' http://www.orpha.net/ORDO/Orphanet_1359 Carney complex 'Carney complex' SubClassOf 'autosomal dominant disease' 'Carney complex' SubClassOf 'disease has feature' some 'Multiple polyglandular tumor' 'Carney complex' SubClassOf 'disease has feature' some 'Genetic cardiac tumor' 'Carney complex' SubClassOf 'disease has feature' some 'adrenal/paraganglial tumor' 'Carney complex' SubClassOf 'disease has feature' some 'Genetic hyperpigmentation of the skin' 'Carney complex' SubClassOf 'disease has feature' some 'Palpebral lentiginosis' 'Carney complex' SubClassOf 'disease has feature' some 'Mesenchymatous palpebral tumor' 'Carney complex' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1354 Heart defects - limb shortening 'Heart defects - limb shortening' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Heart defects - limb shortening' SubClassOf 'congenital heart disease' 'Heart defects - limb shortening' SubClassOf 'autosomal recessive disease' 'Heart defects - limb shortening' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_1355 Heart defect - round face - congenital developmental delay 'Heart defect - round face - congenital developmental delay' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Heart defect - round face - congenital developmental delay' SubClassOf 'syndromic intellectual disability' 'Heart defect - round face - congenital developmental delay' SubClassOf 'congenital nervous system disorder' 'Heart defect - round face - congenital developmental delay' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_238269 Familial renal amyloidosis due to Apolipoprotein AII variant 'Familial renal amyloidosis due to Apolipoprotein AII variant' SubClassOf 'Familial renal amyloidosis' 'Familial renal amyloidosis due to Apolipoprotein AII variant' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0033555 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia 'immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia' SubClassOf 'T-B- severe combined immunodeficiency' 'immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017855 http://purl.obolibrary.org/obo/MONDO_0033554 immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia 'immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia' SubClassOf 'T-B- severe combined immunodeficiency' 'immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017855 http://www.orpha.net/ORDO/Orphanet_1361 Carnosinemia 'Carnosinemia' SubClassOf 'Homocarnosinosis' 'Carnosinemia' SubClassOf 'Disorder of peptide metabolism' http://www.orpha.net/ORDO/Orphanet_1369 Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy 'Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy' SubClassOf 'Mitochondrial DNA depletion syndrome' 'Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy' SubClassOf 'Mitochondrial substrate carrier disorder' 'Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy' SubClassOf 'Rare syndromic dyslipidemia' 'Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy' SubClassOf 'Mitochondrial substrate carrier disorder' http://www.orpha.net/ORDO/Orphanet_1368 Cataract - ataxia - deafness 'Cataract - ataxia - deafness' SubClassOf 'Syndromic genetic deafness' 'Cataract - ataxia - deafness' SubClassOf 'hereditary ataxia' 'Cataract - ataxia - deafness' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia 'Autosomal recessive palmoplantar keratoderma and congenital alopecia' SubClassOf 'Diffuse palmoplantar keratoderma' 'Autosomal recessive palmoplantar keratoderma and congenital alopecia' SubClassOf 'autosomal recessive disease' 'Autosomal recessive palmoplantar keratoderma and congenital alopecia' SubClassOf 'Ectodermal dysplasia syndrome' 'Autosomal recessive palmoplantar keratoderma and congenital alopecia' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_1375 Cataract - hypertrichosis - intellectual disability 'Cataract - hypertrichosis - intellectual disability' SubClassOf 'syndromic intellectual disability' 'Cataract - hypertrichosis - intellectual disability' SubClassOf 'Ectodermal dysplasia syndrome' 'Cataract - hypertrichosis - intellectual disability' SubClassOf 'Hypertrichosis' 'Cataract - hypertrichosis - intellectual disability' SubClassOf 'Syndromic cataract' 'Cataract - hypertrichosis - intellectual disability' SubClassOf 'Ectodermal dysplasia syndrome' 'Cataract - hypertrichosis - intellectual disability' SubClassOf 'Hypertrichosis' 'Cataract - hypertrichosis - intellectual disability' SubClassOf 'Syndromic cataract' http://www.orpha.net/ORDO/Orphanet_1373 Cataract - aberrant oral frenula - growth delay 'Cataract - aberrant oral frenula - growth delay' SubClassOf 'autosomal dominant cataract' 'Cataract - aberrant oral frenula - growth delay' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Cataract - aberrant oral frenula - growth delay' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Cataract - aberrant oral frenula - growth delay' SubClassOf 'Syndromic cataract' http://www.orpha.net/ORDO/Orphanet_1377 Cataract-microcornea syndrome 'Cataract-microcornea syndrome' SubClassOf 'Syndromic cataract' 'Cataract-microcornea syndrome' SubClassOf 'Syndromic cataract' http://www.ebi.ac.uk/efo/EFO_1000181 Clear Cell Papillary Cystadenoma 'Clear Cell Papillary Cystadenoma' SubClassOf 'papillary cystadenoma' 'Clear Cell Papillary Cystadenoma' SubClassOf 'papillary cystadenoma' http://www.ebi.ac.uk/efo/EFO_1000182 Colon Burkitt Lymphoma 'Colon Burkitt Lymphoma' SubClassOf 'Genetic digestive tract tumor' http://www.orpha.net/ORDO/Orphanet_1305 Feingold syndrome 'Feingold syndrome' SubClassOf 'Non-syndromic gastroduodenal malformation' 'Feingold syndrome' SubClassOf 'Genetic syndromic esophageal malformation' 'Feingold syndrome' SubClassOf 'Syndrome with brachydactyly' 'Feingold syndrome' SubClassOf 'intellectual disability, autosomal dominant' 'Feingold syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Feingold syndrome' SubClassOf 'Syndromic gastroduodenal malformation' 'Feingold syndrome' SubClassOf 'Non-syndromic esophageal malformation' 'Feingold syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' 'Feingold syndrome' SubClassOf 'congenital limb malformation' 'Feingold syndrome' SubClassOf 'Non-syndromic respiratory or mediastinal malformation' 'Feingold syndrome' SubClassOf 'syndromic respiratory or mediastinal malformation' 'Feingold syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1306 Buschke-Ollendorff syndrome 'Buschke-Ollendorff syndrome' SubClassOf 'Osteopetrosis' 'Buschke-Ollendorff syndrome' SubClassOf 'Genetic dermis elastic tissue disorder' 'Buschke-Ollendorff syndrome' SubClassOf 'laminopathy' 'Buschke-Ollendorff syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1300 Autosomal dominant popliteal pterygium syndrome 'Autosomal dominant popliteal pterygium syndrome' SubClassOf 'Syndromic ankyloblepharon' 'Autosomal dominant popliteal pterygium syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Autosomal dominant popliteal pterygium syndrome' SubClassOf 'intellectual disability, autosomal dominant' 'Autosomal dominant popliteal pterygium syndrome' SubClassOf 'Popliteal pterygium syndrome' 'Autosomal dominant popliteal pterygium syndrome' SubClassOf 'Syndromic ankyloblepharon' 'Autosomal dominant popliteal pterygium syndrome' SubClassOf 'Popliteal pterygium syndrome' http://www.orpha.net/ORDO/Orphanet_216820 Osteogenesis imperfecta type 4 'Osteogenesis imperfecta type 4' SubClassOf 'Osteogenesis imperfecta' 'Osteogenesis imperfecta type 4' SubClassOf 'Osteogenesis imperfecta' http://www.orpha.net/ORDO/Orphanet_216828 Osteogenesis imperfecta type 5 'Osteogenesis imperfecta type 5' SubClassOf 'Osteogenesis imperfecta' 'Osteogenesis imperfecta type 5' SubClassOf 'Osteogenesis imperfecta' http://www.ebi.ac.uk/efo/EFO_1000190 Colorectal Adenosquamous Carcinoma 'Colorectal Adenosquamous Carcinoma' SubClassOf 'Adenosquamous Carcinoma' 'Colorectal Adenosquamous Carcinoma' SubClassOf 'Adenosquamous Carcinoma' http://www.ebi.ac.uk/efo/EFO_1000198 Colorectal Squamous Cell Carcinoma 'Colorectal Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' 'Colorectal Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' http://www.orpha.net/ORDO/Orphanet_1310 Caffey disease 'Caffey disease' SubClassOf 'Neonatal osteosclerotic dysplasia' 'Caffey disease' SubClassOf 'bone inflammation disease' 'Caffey disease' SubClassOf 'hyperostosis' 'Caffey disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1309 Medullary sponge kidney 'Medullary sponge kidney' SubClassOf 'Genetic non-syndromic renal or urinary tract malformation' 'Medullary sponge kidney' SubClassOf 'Familial cystic renal disease' 'Medullary sponge kidney' SubClassOf 'Cystic Kidney Disease' 'Medullary sponge kidney' SubClassOf 'Genetic non-syndromic renal or urinary tract malformation' 'Medullary sponge kidney' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019741 http://www.orpha.net/ORDO/Orphanet_1307 Distal limb deficiencies - micrognathia syndrome 'Distal limb deficiencies - micrognathia syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' 'Distal limb deficiencies - micrognathia syndrome' SubClassOf 'Partial duplication of the long arm of chromosome 10' 'Distal limb deficiencies - micrognathia syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Distal limb deficiencies - micrognathia syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1308 C syndrome 'C syndrome' SubClassOf 'syndromic intellectual disability' 'C syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'C syndrome' SubClassOf 'congenital nervous system disorder' 'C syndrome' SubClassOf 'Syndromic craniosynostosis' 'C syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'C syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_216812 Osteogenesis imperfecta type 3 'Osteogenesis imperfecta type 3' SubClassOf 'Osteogenesis imperfecta' 'Osteogenesis imperfecta type 3' SubClassOf 'Osteogenesis imperfecta' http://www.orpha.net/ORDO/Orphanet_1327 Camptodactyly syndrome, Guadalajara type 1 'Camptodactyly syndrome, Guadalajara type 1' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Camptodactyly syndrome, Guadalajara type 1' SubClassOf 'camptodactyly syndrome, Guadalajara' 'Camptodactyly syndrome, Guadalajara type 1' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_1328 Camurati-Engelmann disease 'Camurati-Engelmann disease' SubClassOf 'Primary bone dysplasia with increased bone density' 'Camurati-Engelmann disease' SubClassOf 'syndromic disease' 'Camurati-Engelmann disease' SubClassOf 'has_disease_location' some ('bone element' or ('part_of' some 'bone element')) 'Camurati-Engelmann disease' SubClassOf 'Primary bone dysplasia' 'Camurati-Engelmann disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1325 Camptodactyly - taurinuria 'Camptodactyly - taurinuria' SubClassOf 'congenital limb malformation' 'Camptodactyly - taurinuria' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_1326 Camptodactyly syndrome, Guadalajara type 2 'Camptodactyly syndrome, Guadalajara type 2' SubClassOf 'congenital limb malformation' 'Camptodactyly syndrome, Guadalajara type 2' SubClassOf 'camptodactyly syndrome, Guadalajara' 'Camptodactyly syndrome, Guadalajara type 2' SubClassOf 'Dysostosis of genetic origin' 'Camptodactyly syndrome, Guadalajara type 2' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Camptodactyly syndrome, Guadalajara type 2' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_35858 Gräsbeck-Imerslund disease 'Gräsbeck-Imerslund disease' SubClassOf 'Disorder of cobalamin metabolism and transport' 'Gräsbeck-Imerslund disease' SubClassOf 'megaloblastic anemia' 'Gräsbeck-Imerslund disease' SubClassOf 'Intestinal disease due to vitamin absorption anomaly' 'Gräsbeck-Imerslund disease' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Gräsbeck-Imerslund disease' SubClassOf 'Disorder of cobalamin metabolism and transport' 'Gräsbeck-Imerslund disease' SubClassOf 'Intestinal disease due to vitamin absorption anomaly' 'Gräsbeck-Imerslund disease' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' http://www.orpha.net/ORDO/Orphanet_1318 Campomelia, Cumming type 'Campomelia, Cumming type' SubClassOf 'neurovascular disorder' 'Campomelia, Cumming type' SubClassOf 'Syndromic lymphedema' 'Campomelia, Cumming type' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Campomelia, Cumming type' SubClassOf 'Bent bone dysplasia' 'Campomelia, Cumming type' SubClassOf 'Milroy disease' 'Campomelia, Cumming type' SubClassOf 'Syndromic lymphedema' 'Campomelia, Cumming type' SubClassOf 'genetic skin disease' 'Campomelia, Cumming type' SubClassOf 'Bent bone dysplasia' http://www.orpha.net/ORDO/Orphanet_1319 Camptobrachydactyly 'Camptobrachydactyly' SubClassOf 'brachydactyly' http://www.orpha.net/ORDO/Orphanet_1331 Familial prostate cancer 'Familial prostate cancer' EquivalentTo 'prostate carcinoma' and ('has modifier' some 'inherited') 'Familial prostate cancer' SubClassOf 'prostate carcinoma' 'Familial prostate cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023122 http://www.orpha.net/ORDO/Orphanet_1338 Heart defect-tongue hamartoma-polysyndactyly syndrome 'Heart defect-tongue hamartoma-polysyndactyly syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Heart defect-tongue hamartoma-polysyndactyly syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_1336 Hyperkeratosis-hyperpigmentation syndrome 'Hyperkeratosis-hyperpigmentation syndrome' SubClassOf 'Genetic hyperpigmentation of the skin' 'Hyperkeratosis-hyperpigmentation syndrome' SubClassOf 'autosomal dominant disease' 'Hyperkeratosis-hyperpigmentation syndrome' SubClassOf 'Genetic hyperpigmentation of the skin' http://www.orpha.net/ORDO/Orphanet_1334 Chronic mucocutaneous candidosis 'Chronic mucocutaneous candidosis' SubClassOf 'predisposes towards' some 'candidiasis' 'Chronic mucocutaneous candidosis' SubClassOf 'Genetic susceptibility to infections due to particular pathogens' 'Chronic mucocutaneous candidosis' SubClassOf 'has modifier' some 'rare' 'Chronic mucocutaneous candidosis' SubClassOf 'genetic skin disease' 'Chronic mucocutaneous candidosis' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'candidiasis') 'Chronic mucocutaneous candidosis' SubClassOf 'Genetic susceptibility to infections due to particular pathogens' http://www.orpha.net/ORDO/Orphanet_1335 Cantrell pentalogy 'Cantrell pentalogy' SubClassOf 'syndromic diaphragmatic or thoracic malformation' 'Cantrell pentalogy' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Cantrell pentalogy' SubClassOf 'syndromic diaphragmatic or abdominal wall malformation' 'Cantrell pentalogy' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_1333 Familial pancreatic carcinoma 'Familial pancreatic carcinoma' SubClassOf 'has modifier' some 'rare' 'Familial pancreatic carcinoma' SubClassOf 'pancreatic carcinoma' 'Familial pancreatic carcinoma' EquivalentTo 'pancreatic carcinoma' and ('has modifier' some 'inherited') http://www.orpha.net/ORDO/Orphanet_397787 Severe combined immunodeficiency due to IKK2 deficiency 'Severe combined immunodeficiency due to IKK2 deficiency' SubClassOf 'T+ B+ severe combined immunodeficiency' 'Severe combined immunodeficiency due to IKK2 deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044201 http://www.orpha.net/ORDO/Orphanet_216866 Classic pantothenate kinase-associated neurodegeneration 'Classic pantothenate kinase-associated neurodegeneration' SubClassOf 'Pantothenate kinase-associated neurodegeneration' 'Classic pantothenate kinase-associated neurodegeneration' SubClassOf 'Pantothenate kinase-associated neurodegeneration' http://www.orpha.net/ORDO/Orphanet_35878 Hyperinsulinism-hyperammonemia syndrome 'Hyperinsulinism-hyperammonemia syndrome' SubClassOf 'urea cycle disorder' 'Hyperinsulinism-hyperammonemia syndrome' SubClassOf 'Diazoxide-sensitive diffuse hyperinsulinism' 'Hyperinsulinism-hyperammonemia syndrome' SubClassOf 'Diazoxide-sensitive diffuse hyperinsulinism' http://www.orpha.net/ORDO/Orphanet_371195 Congenital disorder of glycosylation-related bone disorder 'Congenital disorder of glycosylation-related bone disorder' SubClassOf 'bone disease' 'Congenital disorder of glycosylation-related bone disorder' SubClassOf 'Congenital disorder of glycosylation' http://www.orpha.net/ORDO/Orphanet_216873 Atypical pantothenate kinase-associated neurodegeneration 'Atypical pantothenate kinase-associated neurodegeneration' SubClassOf 'Pantothenate kinase-associated neurodegeneration' 'Atypical pantothenate kinase-associated neurodegeneration' SubClassOf 'Pantothenate kinase-associated neurodegeneration' http://www.orpha.net/ORDO/Orphanet_309297 Mucopolysaccharidosis type 4A 'Mucopolysaccharidosis type 4A' SubClassOf 'Mucopolysaccharidosis type 4' 'Mucopolysaccharidosis type 4A' SubClassOf 'Mucopolysaccharidosis type 4' http://www.orpha.net/ORDO/Orphanet_309294 sialidosis 'sialidosis' SubClassOf 'Oligosaccharidosis' 'sialidosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000345 Major Salivary Gland Carcinoma ex Pleomorphic Adenoma 'Major Salivary Gland Carcinoma ex Pleomorphic Adenoma' SubClassOf 'Major Salivary Gland Carcinoma' 'Major Salivary Gland Carcinoma ex Pleomorphic Adenoma' SubClassOf 'Salivary Gland Carcinoma ex Pleomorphic Adenoma' 'Major Salivary Gland Carcinoma ex Pleomorphic Adenoma' SubClassOf 'Major Salivary Gland Carcinoma' 'Major Salivary Gland Carcinoma ex Pleomorphic Adenoma' SubClassOf 'Salivary Gland Carcinoma ex Pleomorphic Adenoma' http://www.orpha.net/ORDO/Orphanet_35688 Madelung deformity 'Madelung deformity' SubClassOf 'Léri-Weill dyschondrosteosis' 'Madelung deformity' SubClassOf 'Joint formation defects' 'Madelung deformity' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000346 Major Salivary Gland Mucoepidermoid Carcinoma 'Major Salivary Gland Mucoepidermoid Carcinoma' SubClassOf 'Major Salivary Gland Carcinoma' 'Major Salivary Gland Mucoepidermoid Carcinoma' SubClassOf 'salivary gland mucoepidermoid carcinoma' 'Major Salivary Gland Mucoepidermoid Carcinoma' SubClassOf 'Major Salivary Gland Carcinoma' 'Major Salivary Gland Mucoepidermoid Carcinoma' SubClassOf 'salivary gland mucoepidermoid carcinoma' http://www.ebi.ac.uk/efo/EFO_1000344 Major Salivary Gland Carcinoma 'Major Salivary Gland Carcinoma' SubClassOf 'salivary gland carcinoma' 'Major Salivary Gland Carcinoma' SubClassOf 'salivary gland carcinoma' http://www.orpha.net/ORDO/Orphanet_35689 Primary lateral sclerosis 'Primary lateral sclerosis' SubClassOf 'Genetic motor neuron disease' 'Primary lateral sclerosis' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_108993 Non-syndromic respiratory or mediastinal malformation 'Non-syndromic respiratory or mediastinal malformation' SubClassOf 'Genetic respiratory or mediastinal malformation' 'Non-syndromic respiratory or mediastinal malformation' EquivalentTo 'Genetic respiratory or mediastinal malformation' and ('has modifier' some 'has an isolated presentation') 'Non-syndromic respiratory or mediastinal malformation' SubClassOf 'has modifier' some 'rare' 'Non-syndromic respiratory or mediastinal malformation' SubClassOf 'has modifier' some 'has an isolated presentation' 'Non-syndromic respiratory or mediastinal malformation' SubClassOf 'Genetic respiratory or mediastinal malformation' http://www.ebi.ac.uk/efo/EFO_1000347 Malignancy in Giant Cell Tumor of Bone 'Malignancy in Giant Cell Tumor of Bone' SubClassOf 'malignant giant cell tumor' 'Malignancy in Giant Cell Tumor of Bone' SubClassOf 'bone sarcoma' 'Malignancy in Giant Cell Tumor of Bone' SubClassOf 'malignant giant cell tumor' 'Malignancy in Giant Cell Tumor of Bone' SubClassOf 'bone sarcoma' http://www.ebi.ac.uk/efo/EFO_1000348 Malignant Adrenal Gland Pheochromocytoma 'Malignant Adrenal Gland Pheochromocytoma' SubClassOf 'adrenal gland pheochromocytoma' 'Malignant Adrenal Gland Pheochromocytoma' SubClassOf 'adrenal gland pheochromocytoma' http://www.ebi.ac.uk/efo/EFO_1000356 Malignant Mixed Neoplasm 'Malignant Mixed Neoplasm' SubClassOf 'mixed neoplasm' 'Malignant Mixed Neoplasm' SubClassOf 'cancer' 'Malignant Mixed Neoplasm' SubClassOf 'mixed neoplasm' 'Malignant Mixed Neoplasm' SubClassOf 'cancer' http://www.ebi.ac.uk/efo/EFO_1000354 Malignant Laryngeal Neoplasm 'Malignant Laryngeal Neoplasm' SubClassOf 'laryngeal neoplasm' 'Malignant Laryngeal Neoplasm' SubClassOf 'laryngeal neoplasm' http://www.ebi.ac.uk/efo/EFO_1000352 Malignant Germ Cell Tumor 'Malignant Germ Cell Tumor' SubClassOf 'germ cell tumor' 'Malignant Germ Cell Tumor' SubClassOf 'germ cell tumor' http://www.ebi.ac.uk/efo/EFO_1000353 Malignant Jugulotympanic Paraganglioma 'Malignant Jugulotympanic Paraganglioma' SubClassOf 'jugulotympanic paraganglioma' 'Malignant Jugulotympanic Paraganglioma' SubClassOf 'Genetic endocrine tumor' 'Malignant Jugulotympanic Paraganglioma' SubClassOf 'jugulotympanic paraganglioma' http://www.orpha.net/ORDO/Orphanet_108985 Non-syndromic developmental defect of the eye 'Non-syndromic developmental defect of the eye' SubClassOf 'has modifier' some 'has an isolated presentation' 'Non-syndromic developmental defect of the eye' SubClassOf 'Genetic developmental defect of the eye' 'Non-syndromic developmental defect of the eye' EquivalentTo 'Genetic developmental defect of the eye' and ('has modifier' some 'has an isolated presentation') 'Non-syndromic developmental defect of the eye' SubClassOf 'Genetic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_309279 Glycoproteinosis 'Glycoproteinosis' SubClassOf 'Lysosomal disease' 'Glycoproteinosis' SubClassOf 'Lysosomal disease' http://www.orpha.net/ORDO/Orphanet_397802 T+ B+ severe combined immunodeficiency 'T-B+ severe combined immunodeficiency' DisjointWith 'T+ B+ severe combined immunodeficiency' 'T+ B+ severe combined immunodeficiency' SubClassOf 'Severe combined immunodeficiency' 'T+ B+ severe combined immunodeficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000366 Mediastinal Malignant Germ Cell Tumor 'Mediastinal Malignant Germ Cell Tumor' SubClassOf 'mediastinal germ cell tumor' 'Mediastinal Malignant Germ Cell Tumor' SubClassOf 'mediastinal germ cell tumor' http://www.ebi.ac.uk/efo/EFO_1000363 Malignant Urinary System Neoplasm 'Malignant Urinary System Neoplasm' SubClassOf 'urinary system neoplasm' 'Malignant Urinary System Neoplasm' SubClassOf 'cancer' 'Malignant Urinary System Neoplasm' SubClassOf 'urinary system neoplasm' 'Malignant Urinary System Neoplasm' SubClassOf 'cancer' http://www.orpha.net/ORDO/Orphanet_309271 Metachromatic leukodystrophy, adult form 'Metachromatic leukodystrophy, adult form' SubClassOf 'Metachromatic leukodystrophy, juvenile form' 'Metachromatic leukodystrophy, adult form' SubClassOf 'Metachromatic leukodystrophy' http://www.ebi.ac.uk/efo/EFO_1000362 Malignant Pleural Neoplasm 'Malignant Pleural Neoplasm' SubClassOf 'pleural neoplasm' 'Malignant Pleural Neoplasm' SubClassOf 'pleural neoplasm' http://www.orpha.net/ORDO/Orphanet_108971 Non-syndromic visceral malformation 'Non-syndromic visceral malformation' SubClassOf 'Genetic visceral malformation of the liver, biliary tract, pancreas or spleen' 'Non-syndromic visceral malformation' SubClassOf 'Genetic visceral malformation of the liver, biliary tract, pancreas or spleen' http://www.orpha.net/ORDO/Orphanet_108973 Syndromic visceral malformation 'Syndromic visceral malformation' SubClassOf 'Genetic visceral malformation of the liver, biliary tract, pancreas or spleen' 'Syndromic visceral malformation' SubClassOf 'Genetic visceral malformation of the liver, biliary tract, pancreas or spleen' http://www.orpha.net/ORDO/Orphanet_157946 Huntington disease-like 3 'Huntington disease-like 3' SubClassOf 'Huntington disease-like syndrome' 'Huntington disease-like 3' SubClassOf 'Miscellaneous movement disorder due to genetic neurodegenerative disease' 'Huntington disease-like 3' SubClassOf 'disease arises from feature' some 'neurodegenerative disease' 'Huntington disease-like 3' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_157941 Huntington disease-like 1 'Huntington disease-like 1' SubClassOf 'Huntington disease and related disorders' 'Huntington disease-like 1' SubClassOf 'Neurodegenerative disease with chorea' 'Huntington disease-like 1' SubClassOf 'inherited prion disease' 'Huntington disease-like 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_309288 Alpha-mannosidosis, adult form 'Alpha-mannosidosis, adult form' SubClassOf 'Alpha-mannosidosis' 'Alpha-mannosidosis, adult form' SubClassOf 'Alpha-mannosidosis' http://www.orpha.net/ORDO/Orphanet_35698 Mitochondrial DNA depletion syndrome 'Mitochondrial DNA depletion syndrome' SubClassOf 'Mitochondrial oxidative phosphorylation disorder' http://www.ebi.ac.uk/efo/EFO_1000379 Minor Salivary Gland Adenocarcinoma 'Minor Salivary Gland Adenocarcinoma' SubClassOf 'adenocarcinoma' 'Minor Salivary Gland Adenocarcinoma' SubClassOf 'adenocarcinoma' http://www.orpha.net/ORDO/Orphanet_309282 Alpha-mannosidosis, infantile form 'Alpha-mannosidosis, infantile form' SubClassOf 'Alpha-mannosidosis' 'Alpha-mannosidosis, infantile form' SubClassOf 'Alpha-mannosidosis' http://www.orpha.net/ORDO/Orphanet_108963 Non-syndromic gastroduodenal malformation 'Non-syndromic gastroduodenal malformation' SubClassOf 'has modifier' some 'has an isolated presentation' 'Non-syndromic gastroduodenal malformation' SubClassOf 'Gastroduodenal malformation' 'Non-syndromic gastroduodenal malformation' EquivalentTo 'Gastroduodenal malformation' and ('has modifier' some 'has an isolated presentation') 'Non-syndromic gastroduodenal malformation' SubClassOf 'Gastroduodenal malformation' http://www.orpha.net/ORDO/Orphanet_108965 Syndromic gastroduodenal malformation 'Syndromic gastroduodenal malformation' EquivalentTo 'Gastroduodenal malformation' and ('has modifier' some 'has a syndromic presentation') 'Syndromic gastroduodenal malformation' SubClassOf 'Gastroduodenal malformation' 'Syndromic gastroduodenal malformation' SubClassOf 'syndromic disease' 'Syndromic gastroduodenal malformation' SubClassOf 'Gastroduodenal malformation' http://www.orpha.net/ORDO/Orphanet_108967 Non-syndromic intestinal malformation 'Non-syndromic intestinal malformation' SubClassOf 'has modifier' some 'has an isolated presentation' 'Non-syndromic intestinal malformation' EquivalentTo 'Intestinal malformation' and ('has modifier' some 'has an isolated presentation') 'Non-syndromic intestinal malformation' SubClassOf 'Intestinal malformation' 'Non-syndromic intestinal malformation' SubClassOf 'Intestinal malformation' http://www.orpha.net/ORDO/Orphanet_108969 Syndromic intestinal malformation 'Syndromic intestinal malformation' SubClassOf 'Intestinal malformation' 'Syndromic intestinal malformation' EquivalentTo 'Intestinal malformation' and ('has modifier' some 'has a syndromic presentation') 'Syndromic intestinal malformation' SubClassOf 'syndromic disease' 'Syndromic intestinal malformation' SubClassOf 'Intestinal malformation' http://www.orpha.net/ORDO/Orphanet_309252 Atypical Gaucher disease due to saposin C deficiency 'Atypical Gaucher disease due to saposin C deficiency' SubClassOf 'Gaucher disease' 'Atypical Gaucher disease due to saposin C deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018150 http://www.orpha.net/ORDO/Orphanet_309256 Metachromatic leukodystrophy, late infantile form 'Metachromatic leukodystrophy, late infantile form' SubClassOf 'Metachromatic leukodystrophy, juvenile form' 'Metachromatic leukodystrophy, late infantile form' SubClassOf 'Metachromatic leukodystrophy' http://www.orpha.net/ORDO/Orphanet_33069 Dravet syndrome 'Dravet syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 'Dravet syndrome' SubClassOf 'epilepsy' http://www.orpha.net/ORDO/Orphanet_33067 Metaphyseal chondrodysplasia, Jansen type 'Metaphyseal chondrodysplasia, Jansen type' SubClassOf 'Multiple metaphyseal dysplasia' 'Metaphyseal chondrodysplasia, Jansen type' SubClassOf 'Multiple metaphyseal dysplasia' http://www.ebi.ac.uk/efo/EFO_1000388 Myelodysplastic/Myeloproliferative Neoplasm 'Myelodysplastic/Myeloproliferative Neoplasm' SubClassOf 'hereditary disorder of connective tissue' http://www.ebi.ac.uk/efo/EFO_1000385 Mixed Tumor of the Skin 'Mixed Tumor of the Skin' SubClassOf 'mixed neoplasm' 'Mixed Tumor of the Skin' SubClassOf 'eccrine sweat gland neoplasm' 'Mixed Tumor of the Skin' SubClassOf 'mixed neoplasm' 'Mixed Tumor of the Skin' SubClassOf 'eccrine sweat gland neoplasm' http://www.ebi.ac.uk/efo/EFO_1000386 Mucinous Gastric Adenocarcinoma 'Mucinous Gastric Adenocarcinoma' SubClassOf 'mucinous carcinoma' 'Mucinous Gastric Adenocarcinoma' SubClassOf 'mucinous carcinoma' http://www.ebi.ac.uk/efo/EFO_0002916 esophageal carcinoma 'esophageal carcinoma' SubClassOf 'esophageal cancer' 'esophageal carcinoma' SubClassOf 'esophageal cancer' http://www.ebi.ac.uk/efo/EFO_0002917 ovarian serous adenocarcinoma 'ovarian serous adenocarcinoma' SubClassOf 'serous adenocarcinoma' 'ovarian serous adenocarcinoma' SubClassOf 'malignant ovarian serous tumor' 'ovarian serous adenocarcinoma' SubClassOf 'serous adenocarcinoma' 'ovarian serous adenocarcinoma' SubClassOf 'malignant ovarian serous tumor' http://www.ebi.ac.uk/efo/EFO_0002919 uterine carcinoma 'uterine carcinoma' SubClassOf 'carcinoma' 'uterine carcinoma' SubClassOf 'carcinoma' http://www.orpha.net/ORDO/Orphanet_309263 Metachromatic leukodystrophy, juvenile form 'Metachromatic leukodystrophy, juvenile form' SubClassOf 'Metachromatic leukodystrophy' 'Metachromatic leukodystrophy, juvenile form' SubClassOf 'Metachromatic leukodystrophy' http://www.ebi.ac.uk/efo/EFO_1000399 Non-Functioning Adrenal Cortex Adenoma 'Non-Functioning Adrenal Cortex Adenoma' SubClassOf 'adrenocortical adenoma' 'Non-Functioning Adrenal Cortex Adenoma' SubClassOf 'adrenocortical adenoma' http://www.ebi.ac.uk/efo/EFO_0002938 hypopharyngeal carcinoma 'hypopharyngeal carcinoma' SubClassOf 'hypopharynx cancer' 'hypopharyngeal carcinoma' SubClassOf 'hypopharynx cancer' http://www.orpha.net/ORDO/Orphanet_309239 Tay-Sachs disease, B1 variant 'Tay-Sachs disease, B1 variant' SubClassOf 'Tay-Sachs disease' 'Tay-Sachs disease, B1 variant' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_216804 Osteogenesis imperfecta type 2 'Osteogenesis imperfecta type 2' SubClassOf 'Osteogenesis imperfecta' 'Osteogenesis imperfecta type 2' SubClassOf 'Osteogenesis imperfecta' http://www.orpha.net/ORDO/Orphanet_309246 GM2-gangliosidosis, AB variant 'GM2-gangliosidosis, AB variant' SubClassOf 'GM2 gangliosidosis' 'GM2-gangliosidosis, AB variant' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017720 http://www.ebi.ac.uk/efo/EFO_0002921 vulvar carcinoma 'vulvar carcinoma' SubClassOf 'carcinoma' 'vulvar carcinoma' SubClassOf 'vulva cancer' 'vulvar carcinoma' SubClassOf 'carcinoma' 'vulvar carcinoma' SubClassOf 'vulva cancer' http://www.ebi.ac.uk/efo/EFO_0000311 cancer 'cancer' SubClassOf 'neoplasm' 'cancer' SubClassOf 'neoplasm' http://www.ebi.ac.uk/efo/EFO_0000313 carcinoma 'carcinoma' SubClassOf 'cancer' 'carcinoma' SubClassOf 'epithelial neoplasm' 'carcinoma' SubClassOf 'cancer' 'carcinoma' SubClassOf 'epithelial neoplasm' http://www.orpha.net/ORDO/Orphanet_82004 Ehlers-Danlos syndrome with periventricular heterotopia 'Ehlers-Danlos syndrome with periventricular heterotopia' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome with periventricular heterotopia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020066 http://www.ebi.ac.uk/efo/EFO_0000304 breast adenocarcinoma 'breast adenocarcinoma' SubClassOf 'adenocarcinoma' 'breast adenocarcinoma' SubClassOf 'breast carcinoma' 'breast adenocarcinoma' SubClassOf 'adenocarcinoma' 'breast adenocarcinoma' SubClassOf 'breast carcinoma' http://www.ebi.ac.uk/efo/EFO_0000305 breast carcinoma 'breast carcinoma' SubClassOf 'carcinoma' 'breast carcinoma' SubClassOf 'breast cancer' 'breast carcinoma' SubClassOf 'carcinoma' 'breast carcinoma' SubClassOf 'breast cancer' http://www.ebi.ac.uk/efo/EFO_0000308 bronchoalveolar adenocarcinoma 'bronchoalveolar adenocarcinoma' SubClassOf 'lung adenocarcinoma' 'bronchoalveolar adenocarcinoma' SubClassOf 'lung adenocarcinoma' http://www.orpha.net/ORDO/Orphanet_94056 Humero-ulnar synostosis 'Humero-ulnar synostosis' SubClassOf 'Joint formation defects' 'Humero-ulnar synostosis' SubClassOf 'Joint formation defects' http://www.orpha.net/ORDO/Orphanet_1187 Lethal ataxia with deafness and optic atrophy 'Lethal ataxia with deafness and optic atrophy' SubClassOf 'Developmental anomaly of metabolic origin' 'Lethal ataxia with deafness and optic atrophy' SubClassOf 'Disorder of purine metabolism' 'Lethal ataxia with deafness and optic atrophy' SubClassOf 'X-linked cerebellar ataxia' 'Lethal ataxia with deafness and optic atrophy' SubClassOf 'X-linked deafness' 'Lethal ataxia with deafness and optic atrophy' SubClassOf 'X-linked syndromic intellectual disability' 'Lethal ataxia with deafness and optic atrophy' SubClassOf 'Syndromic genetic deafness' 'Lethal ataxia with deafness and optic atrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 'Lethal ataxia with deafness and optic atrophy' SubClassOf 'Disorder of purine metabolism' 'Lethal ataxia with deafness and optic atrophy' SubClassOf 'Syndromic genetic deafness' http://purl.obolibrary.org/obo/MONDO_0008409 MYH7-related late-onset scapuloperoneal muscular dystrophy 'MYH7-related late-onset scapuloperoneal muscular dystrophy' SubClassOf 'Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)' 'MYH7-related late-onset scapuloperoneal muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016195 http://www.orpha.net/ORDO/Orphanet_1188 Ataxia-deafness-intellectual disability syndrome 'Ataxia-deafness-intellectual disability syndrome' SubClassOf 'Syndromic genetic deafness' 'Ataxia-deafness-intellectual disability syndrome' SubClassOf 'X-linked cerebellar ataxia' 'Ataxia-deafness-intellectual disability syndrome' SubClassOf 'X-linked deafness' 'Ataxia-deafness-intellectual disability syndrome' SubClassOf 'Syndromic genetic deafness' 'Ataxia-deafness-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016612 http://www.orpha.net/ORDO/Orphanet_1185 Spinocerebellar ataxia - dysmorphism 'Spinocerebellar ataxia - dysmorphism' SubClassOf 'hereditary ataxia' http://www.orpha.net/ORDO/Orphanet_1186 Infantile onset spinocerebellar ataxia 'Infantile onset spinocerebellar ataxia' SubClassOf 'Mitochondrial DNA depletion syndrome, hepatocerebral form' 'Infantile onset spinocerebellar ataxia' SubClassOf 'Autosomal recessive degenerative and progressive cerebellar ataxia' 'Infantile onset spinocerebellar ataxia' SubClassOf 'Mitochondrial DNA depletion syndrome, hepatocerebral form' 'Infantile onset spinocerebellar ataxia' SubClassOf 'Autosomal recessive degenerative and progressive cerebellar ataxia' http://www.orpha.net/ORDO/Orphanet_1182 Spastic ataxia with congenital miosis 'Spastic ataxia with congenital miosis' SubClassOf 'Autosomal dominant spastic ataxia' 'Spastic ataxia with congenital miosis' SubClassOf 'Autosomal dominant spastic ataxia' http://www.ebi.ac.uk/efo/EFO_0000330 childhood acute myeloid leukemia 'childhood acute myeloid leukemia' SubClassOf 'Inherited acute myeloid leukemia' 'childhood acute myeloid leukemia' SubClassOf 'childhood leukemia' 'childhood acute myeloid leukemia' SubClassOf 'childhood leukemia' 'childhood acute myeloid leukemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017893 http://www.ebi.ac.uk/efo/EFO_0000335 chromophobe renal cell carcinoma 'chromophobe renal cell carcinoma' SubClassOf 'renal cell adenocarcinoma' 'chromophobe renal cell carcinoma' SubClassOf 'renal cell adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0000337 chronic gastritis 'chronic gastritis' SubClassOf 'gastritis' 'chronic gastritis' SubClassOf 'gastritis' http://www.ebi.ac.uk/efo/EFO_1000307 Invasive Breast Carcinoma 'Invasive Breast Carcinoma' SubClassOf 'breast carcinoma' 'Invasive Breast Carcinoma' SubClassOf 'breast carcinoma' http://www.ebi.ac.uk/efo/EFO_0000339 chronic myelogenous leukemia 'chronic myelogenous leukemia' SubClassOf 'myeloid leukemia' 'chronic myelogenous leukemia' SubClassOf 'hereditary disorder of connective tissue' 'chronic myelogenous leukemia' SubClassOf 'myeloid leukemia' http://www.ebi.ac.uk/efo/EFO_1000303 Infiltrating Bladder Urothelial Carcinoma Sarcomatoid Variant 'Infiltrating Bladder Urothelial Carcinoma Sarcomatoid Variant' SubClassOf 'infiltrating bladder urothelial carcinoma' 'Infiltrating Bladder Urothelial Carcinoma Sarcomatoid Variant' SubClassOf 'infiltrating bladder urothelial carcinoma' http://www.ebi.ac.uk/efo/EFO_1000304 Intestinal Type Adenocarcinoma 'Intestinal Type Adenocarcinoma' SubClassOf 'adenocarcinoma' 'Intestinal Type Adenocarcinoma' SubClassOf 'adenocarcinoma' http://www.orpha.net/ORDO/Orphanet_1180 Ataxia - hypogonadism - choroidal dystrophy 'Ataxia - hypogonadism - choroidal dystrophy' SubClassOf 'Congenital hypogonadotropic hypogonadism' 'Ataxia - hypogonadism - choroidal dystrophy' SubClassOf 'hereditary ataxia' http://www.orpha.net/ORDO/Orphanet_108959 Non-syndromic esophageal malformation 'Non-syndromic esophageal malformation' SubClassOf 'has modifier' some 'has an isolated presentation' 'Non-syndromic esophageal malformation' SubClassOf 'Esophageal malformation' 'Non-syndromic esophageal malformation' EquivalentTo 'Esophageal malformation' and ('has modifier' some 'has an isolated presentation') 'Non-syndromic esophageal malformation' SubClassOf 'Esophageal malformation' http://www.orpha.net/ORDO/Orphanet_1198 Colonic atresia 'Colonic atresia' SubClassOf 'Non-syndromic intestinal malformation' 'Colonic atresia' SubClassOf 'Non-syndromic intestinal malformation' http://www.orpha.net/ORDO/Orphanet_1194 Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency 'Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency' SubClassOf 'mitochondrial complex deficiency' http://www.orpha.net/ORDO/Orphanet_1195 Congenital atransferrinemia 'Congenital atransferrinemia' SubClassOf 'inborn metal metabolism disorder' 'Congenital atransferrinemia' SubClassOf 'Disorder of iron metabolism and transport' 'Congenital atransferrinemia' SubClassOf 'Disorder of iron metabolism and transport' http://www.orpha.net/ORDO/Orphanet_1192 Atherosclerosis - deafness - diabetes - epilepsy - nephropathy 'Atherosclerosis - deafness - diabetes - epilepsy - nephropathy' SubClassOf 'Epilepsy syndrome' 'Atherosclerosis - deafness - diabetes - epilepsy - nephropathy' SubClassOf 'Syndromic urogenital tract malformation' 'Atherosclerosis - deafness - diabetes - epilepsy - nephropathy' SubClassOf 'Syndromic renal or urinary tract malformation' 'Atherosclerosis - deafness - diabetes - epilepsy - nephropathy' SubClassOf 'Syndromic genetic deafness' 'Atherosclerosis - deafness - diabetes - epilepsy - nephropathy' SubClassOf 'Epilepsy syndrome' 'Atherosclerosis - deafness - diabetes - epilepsy - nephropathy' SubClassOf 'Syndromic renal or urinary tract malformation' 'Atherosclerosis - deafness - diabetes - epilepsy - nephropathy' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_1193 Atkin-Flaitz syndrome 'Atkin-Flaitz syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Atkin-Flaitz syndrome' SubClassOf 'congenital nervous system disorder' 'Atkin-Flaitz syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Atkin-Flaitz syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000326 central nervous system cancer 'central nervous system cancer' SubClassOf 'nervous system cancer' 'central nervous system cancer' SubClassOf 'nervous system cancer' http://www.ebi.ac.uk/efo/EFO_1000319 Laryngeal Adenoid Cystic Carcinoma 'Laryngeal Adenoid Cystic Carcinoma' SubClassOf 'laryngeal carcinoma' 'Laryngeal Adenoid Cystic Carcinoma' SubClassOf 'adenoid cystic carcinoma' 'Laryngeal Adenoid Cystic Carcinoma' SubClassOf 'laryngeal carcinoma' 'Laryngeal Adenoid Cystic Carcinoma' SubClassOf 'adenoid cystic carcinoma' http://www.ebi.ac.uk/efo/EFO_1000317 Lacrimal Gland Adenoid Cystic Carcinoma 'Lacrimal Gland Adenoid Cystic Carcinoma' SubClassOf 'adenoid cystic carcinoma' 'Lacrimal Gland Adenoid Cystic Carcinoma' SubClassOf 'adenoid cystic carcinoma' http://www.orpha.net/ORDO/Orphanet_1190 Atelosteogenesis type I 'Atelosteogenesis type I' SubClassOf 'Filamin-related bone disorder' 'Atelosteogenesis type I' SubClassOf 'atelosteogenesis' 'Atelosteogenesis type I' SubClassOf 'Filamin-related bone disorder' http://www.ebi.ac.uk/efo/EFO_0000350 clear cell sarcoma of the kidney 'clear cell sarcoma of the kidney' SubClassOf 'clear cell sarcoma' 'clear cell sarcoma of the kidney' SubClassOf 'clear cell sarcoma' http://www.orpha.net/ORDO/Orphanet_69076 Renal glucosuria 'Renal glucosuria' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Renal glucosuria' SubClassOf 'renal tubular transport disease' 'Renal glucosuria' SubClassOf 'Glucose transport disorder' 'Renal glucosuria' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Renal glucosuria' SubClassOf 'Glucose transport disorder' http://www.ebi.ac.uk/efo/EFO_1000320 Laryngeal Small Cell Carcinoma 'Laryngeal Small Cell Carcinoma' SubClassOf 'small cell carcinoma' 'Laryngeal Small Cell Carcinoma' SubClassOf 'laryngeal carcinoma' 'Laryngeal Small Cell Carcinoma' SubClassOf 'small cell carcinoma' 'Laryngeal Small Cell Carcinoma' SubClassOf 'laryngeal carcinoma' http://www.ebi.ac.uk/efo/EFO_1000327 Low Grade Central Osteosarcoma 'Low Grade Central Osteosarcoma' SubClassOf 'osteosarcoma' 'Low Grade Central Osteosarcoma' SubClassOf 'osteosarcoma' http://www.ebi.ac.uk/efo/EFO_1000334 Lung Lymphangioleiomyomatosis 'Lung Lymphangioleiomyomatosis' SubClassOf 'Lymphangioleiomyomatosis' 'Lung Lymphangioleiomyomatosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0011705 http://www.orpha.net/ORDO/Orphanet_69088 Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema 'Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema' SubClassOf 'Primary immunodeficiency due to a defect in adaptive immunity' 'Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema' SubClassOf 'Milroy disease' 'Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema' SubClassOf 'Ectodermal dysplasia syndrome' 'Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema' SubClassOf 'Syndromic lymphedema' 'Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema' SubClassOf 'Osteopetrosis' 'Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema' SubClassOf 'genetic skin disease' 'Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema' SubClassOf 'Ectodermal dysplasia syndrome' 'Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema' SubClassOf 'Syndromic lymphedema' 'Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema' SubClassOf 'Osteopetrosis' http://www.orpha.net/ORDO/Orphanet_69087 Naegeli-Franceschetti-Jadassohn syndrome 'Naegeli-Franceschetti-Jadassohn syndrome' SubClassOf 'Genetic hyperpigmentation of the skin' 'Naegeli-Franceschetti-Jadassohn syndrome' SubClassOf 'Diffuse palmoplantar keratoderma' 'Naegeli-Franceschetti-Jadassohn syndrome' SubClassOf 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' 'Naegeli-Franceschetti-Jadassohn syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Naegeli-Franceschetti-Jadassohn syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_69085 Limb-mammary syndrome 'Limb-mammary syndrome' SubClassOf 'deficient breast volume or number' 'Limb-mammary syndrome' SubClassOf 'congenital limb malformation' 'Limb-mammary syndrome' SubClassOf 'Dysostosis of genetic origin' 'Limb-mammary syndrome' SubClassOf 'EEC syndrome and related syndrome' 'Limb-mammary syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020197 http://www.orpha.net/ORDO/Orphanet_69084 Pure hair and nail ectodermal dysplasia 'Pure hair and nail ectodermal dysplasia' SubClassOf 'Ectodermal dysplasia syndrome' 'Pure hair and nail ectodermal dysplasia' SubClassOf 'Ectodermal dysplasia syndrome' http://www.ebi.ac.uk/efo/EFO_0000348 clear cell adenocarcinoma 'clear cell adenocarcinoma' SubClassOf 'adenocarcinoma' 'clear cell adenocarcinoma' SubClassOf 'adenocarcinoma' http://www.orpha.net/ORDO/Orphanet_69083 Ectodermal dysplasia with natal teeth, Turnpenny type 'Ectodermal dysplasia with natal teeth, Turnpenny type' SubClassOf 'Ectodermal dysplasia syndrome' 'Ectodermal dysplasia with natal teeth, Turnpenny type' SubClassOf 'Ectodermal dysplasia syndrome' http://www.ebi.ac.uk/efo/EFO_0000349 clear cell renal carcinoma 'clear cell renal carcinoma' SubClassOf 'renal cell adenocarcinoma' 'clear cell renal carcinoma' SubClassOf 'nonpapillary renal cell carcinoma' 'clear cell renal carcinoma' SubClassOf 'clear cell adenocarcinoma' 'clear cell renal carcinoma' SubClassOf 'renal cell adenocarcinoma' 'clear cell renal carcinoma' SubClassOf 'nonpapillary renal cell carcinoma' 'clear cell renal carcinoma' SubClassOf 'clear cell adenocarcinoma' http://www.orpha.net/ORDO/Orphanet_69082 Odonto-tricho-ungual-digito-palmar syndrome 'Odonto-tricho-ungual-digito-palmar syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Odonto-tricho-ungual-digito-palmar syndrome' SubClassOf 'Ectodermal dysplasia syndrome' http://www.ebi.ac.uk/efo/EFO_1000338 Lung Signet Ring Cell Carcinoma 'Lung Signet Ring Cell Carcinoma' SubClassOf 'signet ring cell carcinoma' 'Lung Signet Ring Cell Carcinoma' SubClassOf 'lung adenocarcinoma' 'Lung Signet Ring Cell Carcinoma' SubClassOf 'lung adenocarcinoma' 'Lung Signet Ring Cell Carcinoma' SubClassOf 'signet ring cell carcinoma' http://www.ebi.ac.uk/efo/EFO_1000336 Lung Sarcomatoid Carcinoma 'Lung Sarcomatoid Carcinoma' SubClassOf 'Sarcomatoid Carcinoma' 'Lung Sarcomatoid Carcinoma' SubClassOf 'Sarcomatoid Carcinoma' http://www.ebi.ac.uk/efo/EFO_1000337 Lung Sclerosing Hemangioma 'Lung Sclerosing Hemangioma' SubClassOf 'hemangioma of lung' 'Lung Sclerosing Hemangioma' SubClassOf 'hemangioma of lung' http://www.orpha.net/ORDO/Orphanet_1264 Tricho-retino-dento-digital syndrome 'Tricho-retino-dento-digital syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Tricho-retino-dento-digital syndrome' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_1262 Böök syndrome 'Böök syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Böök syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1263 Boomerang dysplasia 'Boomerang dysplasia' SubClassOf 'Primary bone dysplasia with multiple joint dislocations' 'Boomerang dysplasia' SubClassOf 'Filamin-related bone disorder' 'Boomerang dysplasia' SubClassOf 'osteochondrodysplasia' 'Boomerang dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1260 Sino-auricular heart block 'Sino-auricular heart block' SubClassOf 'Genetic cardiac rhythm disease' 'Sino-auricular heart block' SubClassOf 'Genetic cardiac rhythm disease' http://www.orpha.net/ORDO/Orphanet_1261 Bonnemann-Meinecke-Reich syndrome 'Bonnemann-Meinecke-Reich syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Bonnemann-Meinecke-Reich syndrome' SubClassOf 'congenital nervous system disorder' 'Bonnemann-Meinecke-Reich syndrome' SubClassOf 'syndromic intellectual disability' 'Bonnemann-Meinecke-Reich syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Bonnemann-Meinecke-Reich syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1275 Brachydactyly - elbow wrist dysplasia 'Brachydactyly - elbow wrist dysplasia' SubClassOf 'bone development disease' http://www.orpha.net/ORDO/Orphanet_1276 Brachydactyly - arterial hypertension 'Brachydactyly - arterial hypertension' SubClassOf 'Genetic hypertension' 'Brachydactyly - arterial hypertension' SubClassOf 'congenital limb malformation' 'Brachydactyly - arterial hypertension' SubClassOf 'Genetic hypertension' http://www.orpha.net/ORDO/Orphanet_1272 Fine-Lubinsky syndrome 'Fine-Lubinsky syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Fine-Lubinsky syndrome' SubClassOf 'Syndromic cataract' 'Fine-Lubinsky syndrome' SubClassOf 'syndromic intellectual disability' 'Fine-Lubinsky syndrome' SubClassOf 'congenital nervous system disorder' 'Fine-Lubinsky syndrome' SubClassOf 'Syndromic cataract' 'Fine-Lubinsky syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_1270 Bowen-Conradi syndrome 'Bowen-Conradi syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Bowen-Conradi syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Bowen-Conradi syndrome' SubClassOf 'Syndrome with microcephaly as major feature' 'Bowen-Conradi syndrome' SubClassOf 'autosomal recessive disease' 'Bowen-Conradi syndrome' SubClassOf 'congenital nervous system disorder' 'Bowen-Conradi syndrome' SubClassOf 'syndromic intellectual disability' 'Bowen-Conradi syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1277 Brachydactyly - mesomelia - intellectual disability - heart defects 'Brachydactyly - mesomelia - intellectual disability - heart defects' SubClassOf 'congenital nervous system disorder' 'Brachydactyly - mesomelia - intellectual disability - heart defects' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Brachydactyly - mesomelia - intellectual disability - heart defects' SubClassOf 'syndromic intellectual disability' 'Brachydactyly - mesomelia - intellectual disability - heart defects' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_1278 Brachydactyly - preaxial hallux varus 'Brachydactyly - preaxial hallux varus' SubClassOf 'congenital limb malformation' http://purl.obolibrary.org/obo/MONDO_0021440 benign neoplasm of skin 'benign neoplasm of skin' SubClassOf 'skin neoplasm' 'benign neoplasm of skin' SubClassOf 'skin neoplasm' http://purl.obolibrary.org/obo/MONDO_0021444 benign neoplasm of large intestine 'benign neoplasm of large intestine' SubClassOf 'intestinal benign neoplasm' 'benign neoplasm of large intestine' SubClassOf 'intestinal benign neoplasm' http://www.ebi.ac.uk/efo/EFO_0000279 azoospermia 'azoospermia' SubClassOf 'Genetic infertility' 'azoospermia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017143 http://www.orpha.net/ORDO/Orphanet_1297 Branchio-oculo-facial syndrome 'Branchio-oculo-facial syndrome' SubClassOf 'autosomal dominant disease' 'Branchio-oculo-facial syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Branchio-oculo-facial syndrome' SubClassOf 'Orofacial clefting syndrome' 'Branchio-oculo-facial syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Branchio-oculo-facial syndrome' SubClassOf 'Orofacial clefting syndrome' http://www.orpha.net/ORDO/Orphanet_1295 Brachytelephalangy - dysmorphism - Kallmann syndrome 'Brachytelephalangy - dysmorphism - Kallmann syndrome' SubClassOf 'Congenital hypogonadotropic hypogonadism' 'Brachytelephalangy - dysmorphism - Kallmann syndrome' SubClassOf 'congenital limb malformation' 'Brachytelephalangy - dysmorphism - Kallmann syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Brachytelephalangy - dysmorphism - Kallmann syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_1296 Lambert syndrome 'Lambert syndrome' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Lambert syndrome' SubClassOf 'Otomandibular dysplasia associated with monogenic syndromes' 'Lambert syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Lambert syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1293 Brachyolmia 'Brachyolmia' SubClassOf 'Spondylodysplastic dysplasia' 'Brachyolmia' SubClassOf 'osteochondrodysplasia' 'Brachyolmia' SubClassOf 'Spondylodysplastic dysplasia' http://www.orpha.net/ORDO/Orphanet_1292 Brachymorphism - onychodysplasia - dysphalangism 'Brachymorphism - onychodysplasia - dysphalangism' SubClassOf 'congenital limb malformation' 'Brachymorphism - onychodysplasia - dysphalangism' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://www.orpha.net/ORDO/Orphanet_1299 Branchio-skeleto-genital syndrome 'Branchio-skeleto-genital syndrome' SubClassOf 'syndromic intellectual disability' 'Branchio-skeleto-genital syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'Branchio-skeleto-genital syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Branchio-skeleto-genital syndrome' SubClassOf 'congenital nervous system disorder' 'Branchio-skeleto-genital syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'Branchio-skeleto-genital syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_216796 Osteogenesis imperfecta type 1 'Osteogenesis imperfecta type 1' SubClassOf 'Osteogenesis imperfecta' 'Osteogenesis imperfecta type 1' SubClassOf 'Osteogenesis imperfecta' http://www.orpha.net/ORDO/Orphanet_1228 Banki syndrome 'Banki syndrome' SubClassOf 'Syndrome with synostosis or other joint formation defect' 'Banki syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1229 Congenital intrauterine infection-like syndrome 'Congenital intrauterine infection-like syndrome' SubClassOf 'Rare genetic neurological disorder' 'Congenital intrauterine infection-like syndrome' SubClassOf 'autosomal recessive disease' 'Congenital intrauterine infection-like syndrome' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_1226 Bamforth-Lazarus syndrome 'Bamforth-Lazarus syndrome' SubClassOf 'Syndromic hypothyroidism' 'Bamforth-Lazarus syndrome' SubClassOf 'Orofacial clefting syndrome' 'Bamforth-Lazarus syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1227 Bangstad syndrome 'Bangstad syndrome' SubClassOf 'polyendocrinopathy' 'Bangstad syndrome' SubClassOf 'Genetic polyendocrinopathy' 'Bangstad syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1225 Baller-Gerold syndrome 'Baller-Gerold syndrome' SubClassOf 'Syndromic craniosynostosis' 'Baller-Gerold syndrome' SubClassOf 'Syndromic anorectal malformation' 'Baller-Gerold syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_94061 Macrocephaly - immune deficiency - anemia 'Macrocephaly - immune deficiency - anemia' SubClassOf 'Primary immunodeficiency' 'Macrocephaly - immune deficiency - anemia' SubClassOf 'primary immunodeficiency disease' http://www.orpha.net/ORDO/Orphanet_94068 Spondyloepiphyseal dysplasia congenita 'Spondyloepiphyseal dysplasia congenita' SubClassOf 'type 2 collagenopathy' 'Spondyloepiphyseal dysplasia congenita' SubClassOf 'hereditary disorder of connective tissue' 'Spondyloepiphyseal dysplasia congenita' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepiphyseal dysplasia congenita' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_94066 Severe intellectual disability - epilepsy - anal anomalies - distal phalangeal hypoplasia 'Severe intellectual disability - epilepsy - anal anomalies - distal phalangeal hypoplasia' SubClassOf 'congenital nervous system disorder' 'Severe intellectual disability - epilepsy - anal anomalies - distal phalangeal hypoplasia' SubClassOf 'syndromic intellectual disability' 'Severe intellectual disability - epilepsy - anal anomalies - distal phalangeal hypoplasia' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Severe intellectual disability - epilepsy - anal anomalies - distal phalangeal hypoplasia' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_94065 15q24 microdeletion syndrome '15q24 microdeletion syndrome' SubClassOf 'SIN3A-related intellectual disability syndrome' '15q24 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 15' '15q24 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 15' '15q24 microdeletion syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_94064 Deafness-infertility syndrome 'Deafness-infertility syndrome' SubClassOf 'Syndromic genetic deafness' 'Deafness-infertility syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 15' 'Deafness-infertility syndrome' SubClassOf 'Syndromic genetic deafness' 'Deafness-infertility syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 15' http://www.orpha.net/ORDO/Orphanet_94063 12q14 microdeletion syndrome '12q14 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 12' '12q14 microdeletion syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' '12q14 microdeletion syndrome' SubClassOf 'Primary bone dysplasia with increased bone density' '12q14 microdeletion syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1231 Barber-Say syndrome 'Barber-Say syndrome' SubClassOf 'Secondary ectropion' 'Barber-Say syndrome' SubClassOf 'Congenital entropion' 'Barber-Say syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Barber-Say syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Barber-Say syndrome' SubClassOf 'Microblepharon - ablephara' 'Barber-Say syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Barber-Say syndrome' SubClassOf 'hypertrichosis of eyelid' 'Barber-Say syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1239 Behr syndrome 'Behr syndrome' SubClassOf 'Autosomal recessive syndromic optic atrophy' 'Behr syndrome' SubClassOf 'syndromic hereditary optic neuropathy' 'Behr syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1237 Beemer-Ertbruggen syndrome 'Beemer-Ertbruggen syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Beemer-Ertbruggen syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000289 bipolar disorder 'bipolar disorder' SubClassOf 'mood disorder' 'bipolar disorder' SubClassOf 'mood disorder' http://www.orpha.net/ORDO/Orphanet_1234 Bartsocas-Papas syndrome 'Bartsocas-Papas syndrome' SubClassOf 'genetic lethal multiple congenital anomalies/dysmorphic syndrome' 'Bartsocas-Papas syndrome' SubClassOf 'Popliteal pterygium syndrome' 'Bartsocas-Papas syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Bartsocas-Papas syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1243 Best vitelliform macular dystrophy 'Best vitelliform macular dystrophy' SubClassOf 'vitelliform macular dystrophy' 'Best vitelliform macular dystrophy' SubClassOf 'Genetic macular dystrophy' http://www.orpha.net/ORDO/Orphanet_1240 Metaphyseal acroscyphodysplasia 'Metaphyseal acroscyphodysplasia' SubClassOf 'Multiple metaphyseal dysplasia' 'Metaphyseal acroscyphodysplasia' SubClassOf 'Multiple metaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_1241 Bencze syndrome 'Bencze syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Bencze syndrome' SubClassOf 'Orofacial clefting syndrome' 'Bencze syndrome' SubClassOf 'syndromic disease' 'Bencze syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1248 Maxillonasal dysplasia 'Maxillonasal dysplasia' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Maxillonasal dysplasia' SubClassOf 'genetic otorhinolaryngologic disease' 'Maxillonasal dysplasia' SubClassOf 'nasal cavity disorder' 'Maxillonasal dysplasia' SubClassOf 'Syndromic genetic deafness' 'Maxillonasal dysplasia' SubClassOf 'congenital nervous system disorder' 'Maxillonasal dysplasia' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Maxillonasal dysplasia' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_1246 Brachydactyly - nystagmus - cerebellar ataxia 'Brachydactyly - nystagmus - cerebellar ataxia' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Brachydactyly - nystagmus - cerebellar ataxia' SubClassOf 'syndromic disease' 'Brachydactyly - nystagmus - cerebellar ataxia' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_35701 3-hydroxy-3-methylglutaryl-CoA synthase deficiency '3-hydroxy-3-methylglutaryl-CoA synthase deficiency' SubClassOf 'disorder of fatty acid oxidation and ketogenesis' '3-hydroxy-3-methylglutaryl-CoA synthase deficiency' SubClassOf 'Disorder of ketone body metabolism' '3-hydroxy-3-methylglutaryl-CoA synthase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_94083 Partington syndrome 'Partington syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Partington syndrome' SubClassOf 'ARX-related epileptic encephalopathy' 'Partington syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_94089 Pseudohypoparathyroidism type 1B 'Pseudohypoparathyroidism type 1B' SubClassOf 'Pseudohypoparathyroidism' 'Pseudohypoparathyroidism type 1B' SubClassOf 'Pseudohypoparathyroidism' http://www.orpha.net/ORDO/Orphanet_94088 Hereditary renal hypouricemia 'Hereditary renal hypouricemia' SubClassOf 'Genetic renal tubular disease' 'Hereditary renal hypouricemia' SubClassOf 'Genetic renal tubular disease' http://www.orpha.net/ORDO/Orphanet_94086 Blue diaper syndrome 'Blue diaper syndrome' SubClassOf 'Disorder of amino acid absorption and transport' 'Blue diaper syndrome' SubClassOf 'Disorder of amino acid absorption and transport' http://www.orpha.net/ORDO/Orphanet_1253 Ascher syndrome 'Ascher syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Ascher syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Ascher syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1252 Blepharonasofacial malformation syndrome 'Blepharonasofacial malformation syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Blepharonasofacial malformation syndrome' SubClassOf 'nose and cavum anomaly' 'Blepharonasofacial malformation syndrome' SubClassOf 'syndromic intellectual disability' 'Blepharonasofacial malformation syndrome' SubClassOf 'genetic otorhinolaryngological malformation' 'Blepharonasofacial malformation syndrome' SubClassOf 'congenital nervous system disorder' 'Blepharonasofacial malformation syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_1259 Blepharoptosis - myopia - ectopia lentis 'Blepharoptosis - myopia - ectopia lentis' SubClassOf 'Lens position anomaly' 'Blepharoptosis - myopia - ectopia lentis' SubClassOf 'Isolated ectopia lentis' 'Blepharoptosis - myopia - ectopia lentis' SubClassOf 'Lens position anomaly' http://www.orpha.net/ORDO/Orphanet_1258 Blepharoptosis - cleft palate - ectrodactyly - dental anomalies 'Blepharoptosis - cleft palate - ectrodactyly - dental anomalies' SubClassOf 'has modifier' some 'rare' 'Blepharoptosis - cleft palate - ectrodactyly - dental anomalies' SubClassOf 'disorder of development or morphogenesis' http://www.orpha.net/ORDO/Orphanet_1256 Blepharophimosis - radioulnar synostosis 'Blepharophimosis - radioulnar synostosis' SubClassOf 'Eyelids malposition disorder' 'Blepharophimosis - radioulnar synostosis' SubClassOf 'congenital limb malformation' http://www.orpha.net/ORDO/Orphanet_94090 Pseudohypoparathyroidism type 2 'Pseudohypoparathyroidism type 2' SubClassOf 'Pseudohypoparathyroidism' 'Pseudohypoparathyroidism type 2' SubClassOf 'Pseudohypoparathyroidism' http://www.orpha.net/ORDO/Orphanet_94095 Spondylocostal dysostosis - anal and genitourinary malformations 'Spondylocostal dysostosis - anal and genitourinary malformations' SubClassOf 'Dysostosis of genetic origin' 'Spondylocostal dysostosis - anal and genitourinary malformations' SubClassOf 'Syndromic anorectal malformation' 'Spondylocostal dysostosis - anal and genitourinary malformations' SubClassOf 'syndromic intellectual disability' 'Spondylocostal dysostosis - anal and genitourinary malformations' SubClassOf 'Syndromic urogenital tract malformation' 'Spondylocostal dysostosis - anal and genitourinary malformations' SubClassOf 'syndromic uterovaginal malformation' 'Spondylocostal dysostosis - anal and genitourinary malformations' SubClassOf 'Syndromic anorectal malformation' 'Spondylocostal dysostosis - anal and genitourinary malformations' SubClassOf 'Syndromic urogenital tract malformation' http://www.orpha.net/ORDO/Orphanet_309334 Salla disease 'Salla disease' SubClassOf 'Free sialic acid storage disease' 'Salla disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_309331 Intermediate severe Salla disease 'Intermediate severe Salla disease' SubClassOf 'Free sialic acid storage disease' 'Intermediate severe Salla disease' SubClassOf 'Free sialic acid storage disease' http://purl.obolibrary.org/obo/MONDO_0033482 spinocerebellar ataxia 47 'spinocerebellar ataxia 47' SubClassOf 'Autosomal dominant cerebellar ataxia' 'spinocerebellar ataxia 47' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020380 http://www.orpha.net/ORDO/Orphanet_309337 Lysosomal glycogen storage disease 'Lysosomal glycogen storage disease' SubClassOf 'Lysosomal disease' 'Lysosomal glycogen storage disease' SubClassOf 'Lysosomal disease' http://www.orpha.net/ORDO/Orphanet_324977 Proteasome disability syndrome 'Proteasome disability syndrome' SubClassOf 'hereditary disorder of connective tissue' 'Proteasome disability syndrome' SubClassOf 'Primary immunodeficiency due to a defect in innate immunity' 'Proteasome disability syndrome' SubClassOf 'type 1 interferonopathy' 'Proteasome disability syndrome' SubClassOf 'autosomal recessive disease' http://www.orpha.net/ORDO/Orphanet_309340 Disorder of lysosomal-related organelles 'Disorder of lysosomal-related organelles' SubClassOf 'Inborn errors of metabolism' 'Disorder of lysosomal-related organelles' SubClassOf 'Inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_35710 Glucose-galactose malabsorption 'Glucose-galactose malabsorption' SubClassOf 'Glucose transport disorder' 'Glucose-galactose malabsorption' SubClassOf 'Congenital intestinal transport defect' 'Glucose-galactose malabsorption' SubClassOf 'Glucose transport disorder' 'Glucose-galactose malabsorption' SubClassOf 'Congenital intestinal transport defect' http://www.orpha.net/ORDO/Orphanet_35706 Glutaric acidemia type 3 'Glutaric acidemia type 3' SubClassOf 'glutaric aciduria' 'Glutaric acidemia type 3' SubClassOf 'Disorder of peroxisomal alpha-, beta- and omega-oxidation' 'Glutaric acidemia type 3' SubClassOf 'Peroxisomal disease' http://www.orpha.net/ORDO/Orphanet_35705 Neurometabolic disorder due to serine deficiency 'Neurometabolic disorder due to serine deficiency' SubClassOf 'inborn serine deficiency' 'Neurometabolic disorder due to serine deficiency' SubClassOf 'Cerebral organic aciduria' 'Neurometabolic disorder due to serine deficiency' SubClassOf 'Neurometabolic disease' 'Neurometabolic disorder due to serine deficiency' SubClassOf 'Disorder of serine or glycine metabolism' http://www.orpha.net/ORDO/Orphanet_35704 Arginine:glycine amidinotransferase deficiency 'Arginine:glycine amidinotransferase deficiency' SubClassOf 'creatine biosynthetic process disease' 'Arginine:glycine amidinotransferase deficiency' SubClassOf 'Disorder of creatine biosynthesis' 'Arginine:glycine amidinotransferase deficiency' SubClassOf 'Neurometabolic disease' 'Arginine:glycine amidinotransferase deficiency' SubClassOf 'cerebral creatine deficiency syndrome' 'Arginine:glycine amidinotransferase deficiency' SubClassOf 'Neurometabolic disease' 'Arginine:glycine amidinotransferase deficiency' SubClassOf 'cerebral creatine deficiency syndrome' http://www.orpha.net/ORDO/Orphanet_35708 Aromatic L-amino acid decarboxylase deficiency 'Aromatic L-amino acid decarboxylase deficiency' SubClassOf 'Disorder of catecholamine synthesis' 'Aromatic L-amino acid decarboxylase deficiency' SubClassOf 'Neurometabolic disease' 'Aromatic L-amino acid decarboxylase deficiency' SubClassOf 'Disorder of catecholamine synthesis' 'Aromatic L-amino acid decarboxylase deficiency' SubClassOf 'Neurometabolic disease' http://www.orpha.net/ORDO/Orphanet_309347 Disorder of protein N-glycosylation 'Disorder of protein N-glycosylation' SubClassOf 'Congenital disorder of glycosylation' 'Disorder of protein N-glycosylation' SubClassOf 'glycoprotein metabolism disease' 'Disorder of protein N-glycosylation' SubClassOf 'Congenital disorder of glycosylation' http://www.orpha.net/ORDO/Orphanet_309310 Mucopolysaccharidosis type 4B 'Mucopolysaccharidosis type 4B' SubClassOf 'Mucopolysaccharidosis type 4' 'Mucopolysaccharidosis type 4B' SubClassOf 'Mucopolysaccharidosis type 4' http://www.orpha.net/ORDO/Orphanet_1202 Larynx atresia 'Larynx atresia' SubClassOf 'genetic otorhinolaryngological malformation' 'Larynx atresia' SubClassOf 'Larynx anomaly' 'Larynx atresia' SubClassOf 'Larynx anomaly' http://www.orpha.net/ORDO/Orphanet_1203 Duodenal atresia 'Duodenal atresia' SubClassOf 'Non-syndromic gastroduodenal malformation' 'Duodenal atresia' SubClassOf 'intestinal atresia' 'Duodenal atresia' SubClassOf 'Non-syndromic intestinal malformation' 'Duodenal atresia' SubClassOf 'Non-syndromic gastroduodenal malformation' http://www.orpha.net/ORDO/Orphanet_1200 Choanal atresia-deafness-cardiac defects-dysmorphism syndrome 'Choanal atresia-deafness-cardiac defects-dysmorphism syndrome' SubClassOf 'Syndromic genetic deafness' 'Choanal atresia-deafness-cardiac defects-dysmorphism syndrome' SubClassOf 'nose and cavum anomaly' 'Choanal atresia-deafness-cardiac defects-dysmorphism syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Choanal atresia-deafness-cardiac defects-dysmorphism syndrome' SubClassOf 'genetic otorhinolaryngological malformation' 'Choanal atresia-deafness-cardiac defects-dysmorphism syndrome' SubClassOf 'congenital nervous system disorder' 'Choanal atresia-deafness-cardiac defects-dysmorphism syndrome' SubClassOf 'Syndromic genetic deafness' 'Choanal atresia-deafness-cardiac defects-dysmorphism syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_1201 Atresia of small intestine 'Atresia of small intestine' SubClassOf 'Non-syndromic intestinal malformation' 'Atresia of small intestine' SubClassOf 'Primary short bowel syndrome' 'Atresia of small intestine' SubClassOf 'Non-syndromic intestinal malformation' 'Atresia of small intestine' SubClassOf 'Primary short bowel syndrome' http://www.orpha.net/ORDO/Orphanet_35737 Morning glory syndrome 'Morning glory syndrome' SubClassOf 'coloboma of optic nerve' 'Morning glory syndrome' SubClassOf 'Genetic developmental defect of the eye' 'Morning glory syndrome' SubClassOf 'Optic neuropathy' 'Morning glory syndrome' SubClassOf 'Rare eye disease due to a differentiation anomaly' 'Morning glory syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020145 'Morning glory syndrome' SubClassOf 'Optic neuropathy' http://www.orpha.net/ORDO/Orphanet_216729 Congenitally uncorrected transposition of the great arteries with cardiac malformation 'Congenitally uncorrected transposition of the great arteries with cardiac malformation' SubClassOf 'Congenitally uncorrected transposition of the great arteries' 'Congenitally uncorrected transposition of the great arteries with cardiac malformation' SubClassOf 'has modifier' some 'congenital' 'Congenitally uncorrected transposition of the great arteries with cardiac malformation' SubClassOf 'Congenitally uncorrected transposition of the great arteries' http://www.orpha.net/ORDO/Orphanet_309319 Disorder of sialic acid metabolism 'Disorder of sialic acid metabolism' SubClassOf 'Lysosomal disease' 'Disorder of sialic acid metabolism' SubClassOf 'Lysosomal disease' http://www.orpha.net/ORDO/Orphanet_1217 Spinal atrophy - ophthalmoplegia - pyramidal syndrome 'Spinal atrophy - ophthalmoplegia - pyramidal syndrome' SubClassOf 'Generalized bulbospinal muscular atrophy' 'Spinal atrophy - ophthalmoplegia - pyramidal syndrome' SubClassOf 'Generalized bulbospinal muscular atrophy' http://www.orpha.net/ORDO/Orphanet_1215 Autosomal dominant optic atrophy plus syndrome 'Autosomal dominant optic atrophy plus syndrome' SubClassOf 'Autosomal dominant optic atrophy' 'Autosomal dominant optic atrophy plus syndrome' SubClassOf 'Autosomal dominant hereditary axonal motor and sensory neuropathy' 'Autosomal dominant optic atrophy plus syndrome' SubClassOf 'Multiple mitochondrial DNA deletion syndrome' 'Autosomal dominant optic atrophy plus syndrome' SubClassOf 'Autosomal dominant optic atrophy' 'Autosomal dominant optic atrophy plus syndrome' SubClassOf 'Autosomal dominant hereditary axonal motor and sensory neuropathy' 'Autosomal dominant optic atrophy plus syndrome' SubClassOf 'Multiple mitochondrial DNA deletion syndrome' http://www.orpha.net/ORDO/Orphanet_1216 Autosomal dominant congenital benign spinal muscular atrophy 'Autosomal dominant congenital benign spinal muscular atrophy' SubClassOf 'Autosomal dominant distal hereditary motor neuropathy' 'Autosomal dominant congenital benign spinal muscular atrophy' SubClassOf 'Autosomal dominant distal hereditary motor neuropathy' http://www.orpha.net/ORDO/Orphanet_309324 Free sialic acid storage disease, infantile form 'Free sialic acid storage disease, infantile form' SubClassOf 'Free sialic acid storage disease' 'Free sialic acid storage disease, infantile form' SubClassOf 'Free sialic acid storage disease' http://www.orpha.net/ORDO/Orphanet_216718 Isolated congenitally uncorrected transposition of the great arteries 'Isolated congenitally uncorrected transposition of the great arteries' SubClassOf 'Congenitally uncorrected transposition of the great arteries' 'Isolated congenitally uncorrected transposition of the great arteries' SubClassOf 'has modifier' some 'congenital' 'Isolated congenitally uncorrected transposition of the great arteries' SubClassOf 'Congenitally uncorrected transposition of the great arteries' http://www.orpha.net/ORDO/Orphanet_157965 Ehlers-Danlos syndrome, spondylocheirodysplastic type 'Ehlers-Danlos syndrome, spondylocheirodysplastic type' SubClassOf 'Ehlers-Danlos syndrome, progeroid type' 'Ehlers-Danlos syndrome, spondylocheirodysplastic type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Ehlers-Danlos syndrome, spondylocheirodysplastic type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_157962 Oculoauricular syndrome, Schorderet type 'Oculoauricular syndrome, Schorderet type' SubClassOf 'Syndromic microphthalmia' 'Oculoauricular syndrome, Schorderet type' SubClassOf 'Major induction processes eye anomaly' http://www.orpha.net/ORDO/Orphanet_157949 Combined immunodeficiency with skin granulomas 'Combined immunodeficiency with skin granulomas' SubClassOf 'genetic skin disease' 'Combined immunodeficiency with skin granulomas' SubClassOf 'T-B- severe combined immunodeficiency' 'Combined immunodeficiency with skin granulomas' SubClassOf 'Combined T and B cell immunodeficiency' http://www.orpha.net/ORDO/Orphanet_324924 Hereditary periodic fever syndrome 'Hereditary periodic fever syndrome' SubClassOf 'periodic fever syndrome' 'Hereditary periodic fever syndrome' SubClassOf 'hereditary disorder of connective tissue' 'Hereditary periodic fever syndrome' EquivalentTo 'periodic fever syndrome' and ('has modifier' some 'inherited') http://www.orpha.net/ORDO/Orphanet_157954 ANE syndrome 'ANE syndrome' SubClassOf 'Rare disorder with hypogonadotropic hypogonadism' 'ANE syndrome' SubClassOf 'genetic alopecia' 'ANE syndrome' SubClassOf 'Disease associated with non-acquired combined pituitary hormone deficiency' 'ANE syndrome' SubClassOf 'Alopecia' 'ANE syndrome' SubClassOf 'syndromic intellectual disability' 'ANE syndrome' SubClassOf 'Congenital hypogonadotropic hypogonadism' 'ANE syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'ANE syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_33110 Autosomal agammaglobulinemia 'Autosomal agammaglobulinemia' SubClassOf 'Isolated agammaglobulinemia' 'Autosomal agammaglobulinemia' SubClassOf 'Isolated agammaglobulinemia' http://www.orpha.net/ORDO/Orphanet_33108 Lethal multiple pterygium syndrome 'Lethal multiple pterygium syndrome' SubClassOf 'Genetic dermis disorder' 'Lethal multiple pterygium syndrome' SubClassOf 'Multiple pterygium syndrome' 'Lethal multiple pterygium syndrome' SubClassOf 'syndromic disease' 'Lethal multiple pterygium syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Lethal multiple pterygium syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019276 'Lethal multiple pterygium syndrome' SubClassOf 'Multiple pterygium syndrome' 'Lethal multiple pterygium syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_157973 Congenital muscular dystrophy due to LMNA mutation 'Congenital muscular dystrophy due to LMNA mutation' SubClassOf 'Congenital muscular dystrophy' 'Congenital muscular dystrophy due to LMNA mutation' SubClassOf 'Congenital muscular dystrophy' http://www.orpha.net/ORDO/Orphanet_324575 Hyperinsulinism due to HNF1A deficiency 'Hyperinsulinism due to HNF1A deficiency' SubClassOf 'Diazoxide-sensitive diffuse hyperinsulinism' 'Hyperinsulinism due to HNF1A deficiency' SubClassOf 'Diazoxide-sensitive diffuse hyperinsulinism' http://www.orpha.net/ORDO/Orphanet_324561 Hypopigmentation-punctate palmoplantar keratoderma syndrome 'Hypopigmentation-punctate palmoplantar keratoderma syndrome' SubClassOf 'autosomal dominant disease' http://www.orpha.net/ORDO/Orphanet_324569 Pontocerebellar hypoplasia type 8 'Pontocerebellar hypoplasia type 8' SubClassOf 'Non-syndromic pontocerebellar hypoplasia' 'Pontocerebellar hypoplasia type 8' SubClassOf 'Non-syndromic pontocerebellar hypoplasia' http://www.orpha.net/ORDO/Orphanet_104007 Congenital enteropathy involving intestinal mucosa development 'Congenital enteropathy involving intestinal mucosa development' SubClassOf 'has modifier' some 'rare' 'Congenital enteropathy involving intestinal mucosa development' SubClassOf 'disorder of development or morphogenesis' 'Congenital enteropathy involving intestinal mucosa development' SubClassOf 'intestinal disease' 'Congenital enteropathy involving intestinal mucosa development' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_104004 Intestinal disease due to vitamin absorption anomaly 'Intestinal disease due to vitamin absorption anomaly' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_104003 Congenital intestinal transport defect 'Congenital intestinal transport defect' SubClassOf 'intestinal disease' 'Congenital intestinal transport defect' SubClassOf 'has modifier' some 'congenital' 'Congenital intestinal transport defect' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_45358 Congenital fibrosis of extraocular muscles 'Congenital fibrosis of extraocular muscles' SubClassOf 'ocular motility disease' 'Congenital fibrosis of extraocular muscles' SubClassOf 'Progressive muscular dystrophy' 'Congenital fibrosis of extraocular muscles' SubClassOf 'myopathy of extraocular muscle' 'Congenital fibrosis of extraocular muscles' SubClassOf 'Eyelids malposition disorder' 'Congenital fibrosis of extraocular muscles' SubClassOf 'Progressive muscular dystrophy' http://www.ebi.ac.uk/efo/EFO_1000015 aldosterone-producing adenoma 'aldosterone-producing adenoma' SubClassOf 'adrenocortical adenoma' 'aldosterone-producing adenoma' SubClassOf 'adrenocortical adenoma' http://www.ebi.ac.uk/efo/EFO_1000012 Rienhoff syndrome 'Rienhoff syndrome' SubClassOf 'Loeys-Dietz syndrome' 'Rienhoff syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018954 http://www.orpha.net/ORDO/Orphanet_141000 Orofaciodigital syndrome type 11 'Orofaciodigital syndrome type 11' SubClassOf 'Orofaciodigital syndrome' 'Orofaciodigital syndrome type 11' SubClassOf 'Orofaciodigital syndrome' http://www.orpha.net/ORDO/Orphanet_324540 Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability 'Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability' SubClassOf 'syndromic intellectual disability' 'Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability' SubClassOf 'congenital nervous system disorder' 'Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.ebi.ac.uk/efo/EFO_1000020 cecum adenocarcinoma 'cecum adenocarcinoma' SubClassOf 'cecum carcinoma' 'cecum adenocarcinoma' SubClassOf 'cecum carcinoma' http://www.ebi.ac.uk/efo/EFO_1000021 cecum carcinoma 'cecum carcinoma' SubClassOf 'cecum cancer' 'cecum carcinoma' SubClassOf 'cecum cancer' http://www.ebi.ac.uk/efo/EFO_0000613 myxoid liposarcoma 'myxoid liposarcoma' SubClassOf 'myxoid/round cell liposarcoma' 'myxoid liposarcoma' SubClassOf 'myxoid/round cell liposarcoma' 'myxoid liposarcoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017127 http://www.ebi.ac.uk/efo/EFO_0000616 neoplasm 'neoplasm' SubClassOf 'neoplastic disease or syndrome' 'neoplasm' SubClassOf 'neoplastic disease or syndrome' http://www.ebi.ac.uk/efo/EFO_1000029 gastric adenosquamous carcinoma 'gastric adenosquamous carcinoma' SubClassOf 'Adenosquamous Carcinoma' 'gastric adenosquamous carcinoma' SubClassOf 'Adenosquamous Carcinoma' http://www.orpha.net/ORDO/Orphanet_324535 Combined oxidative phosphorylation defect type 11 'Combined oxidative phosphorylation defect type 11' SubClassOf 'combined oxidative phosphorylation deficiency' 'Combined oxidative phosphorylation defect type 11' SubClassOf 'Neurometabolic disease' 'Combined oxidative phosphorylation defect type 11' SubClassOf 'Neurometabolic disease' http://www.ebi.ac.uk/efo/EFO_1000030 gastric tubular adenocarcinoma 'gastric tubular adenocarcinoma' SubClassOf 'tubular adenocarcinoma' 'gastric tubular adenocarcinoma' SubClassOf 'gastric adenocarcinoma' 'gastric tubular adenocarcinoma' SubClassOf 'gastric adenocarcinoma' 'gastric tubular adenocarcinoma' SubClassOf 'tubular adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1000037 lung carcinoid tumor 'lung carcinoid tumor' SubClassOf 'carcinoid tumor' 'lung carcinoid tumor' SubClassOf 'carcinoid tumor' http://www.orpha.net/ORDO/Orphanet_104077 Myopathic intestinal pseudoobstruction 'Myopathic intestinal pseudoobstruction' SubClassOf 'Chronic intestinal pseudoobstruction' 'Myopathic intestinal pseudoobstruction' SubClassOf 'Chronic intestinal pseudoobstruction' http://www.orpha.net/ORDO/Orphanet_300573 Polymicrogyria due to TUBB2B mutation 'Polymicrogyria due to TUBB2B mutation' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Polymicrogyria due to TUBB2B mutation' SubClassOf 'complex cortical dysplasia with other brain malformations' 'Polymicrogyria due to TUBB2B mutation' SubClassOf 'Bilateral frontal polymicrogyria' 'Polymicrogyria due to TUBB2B mutation' SubClassOf 'Bilateral frontal polymicrogyria' http://www.orpha.net/ORDO/Orphanet_300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation 'Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation' SubClassOf 'complex cortical dysplasia with other brain malformations' http://www.orpha.net/ORDO/Orphanet_300576 Oligodontia - cancer predisposition syndrome 'Oligodontia - cancer predisposition syndrome' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_324525 Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation 'Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation' SubClassOf 'Primary renal tubular acidosis' 'Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation' SubClassOf 'Primary renal tubular acidosis' http://www.ebi.ac.uk/efo/EFO_1000049 pulmonary tuberculosis 'pulmonary tuberculosis' SubClassOf 'Tuberculosis' 'pulmonary tuberculosis' SubClassOf 'Tuberculosis' 'pulmonary tuberculosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018076 http://www.ebi.ac.uk/efo/EFO_1000046 papillary lung adenocarcinoma 'papillary lung adenocarcinoma' SubClassOf 'papillary adenocarcinoma' 'papillary lung adenocarcinoma' SubClassOf 'lung adenocarcinoma' 'papillary lung adenocarcinoma' SubClassOf 'papillary adenocarcinoma' 'papillary lung adenocarcinoma' SubClassOf 'lung adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1000044 pancreatic adenocarcinoma 'pancreatic adenocarcinoma' SubClassOf 'adenocarcinoma' 'pancreatic adenocarcinoma' SubClassOf 'adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1000042 ovarian clear cell adenocarcinoma 'ovarian clear cell adenocarcinoma' SubClassOf 'ovarian adenocarcinoma' 'ovarian clear cell adenocarcinoma' SubClassOf 'clear cell adenocarcinoma' 'ovarian clear cell adenocarcinoma' SubClassOf 'ovarian adenocarcinoma' 'ovarian clear cell adenocarcinoma' SubClassOf 'clear cell adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1000043 ovarian serous cystadenocarcinoma 'ovarian serous cystadenocarcinoma' SubClassOf 'serous cystadenocarcinoma' 'ovarian serous cystadenocarcinoma' SubClassOf 'serous cystadenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0000639 papillary cystadenocarcinoma 'papillary cystadenocarcinoma' SubClassOf 'cystadenocarcinoma' 'papillary cystadenocarcinoma' SubClassOf 'papillary adenocarcinoma' 'papillary cystadenocarcinoma' SubClassOf 'cystadenocarcinoma' 'papillary cystadenocarcinoma' SubClassOf 'papillary adenocarcinoma' http://www.orpha.net/ORDO/Orphanet_300547 Autosomal recessive infantile hypercalcemia 'Autosomal recessive infantile hypercalcemia' SubClassOf 'Inborn errors of metabolism' 'Autosomal recessive infantile hypercalcemia' SubClassOf 'autosomal recessive disease' 'Autosomal recessive infantile hypercalcemia' SubClassOf 'endocrine system disease' 'Autosomal recessive infantile hypercalcemia' SubClassOf 'hypercalcemia disease' 'Autosomal recessive infantile hypercalcemia' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Autosomal recessive infantile hypercalcemia' SubClassOf 'calcium metabolic disease' 'Autosomal recessive infantile hypercalcemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019052 'Autosomal recessive infantile hypercalcemia' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' http://www.ebi.ac.uk/efo/EFO_1000059 cervical artery dissection 'cervical artery dissection' SubClassOf 'head and neck disorder' http://www.ebi.ac.uk/efo/EFO_1000057 nasal cavity squamous cell carcinoma 'nasal cavity squamous cell carcinoma' SubClassOf 'nasal cavity carcinoma' 'nasal cavity squamous cell carcinoma' SubClassOf 'nasal cavity carcinoma' http://www.ebi.ac.uk/efo/EFO_1000053 squamous cell breast carcinoma 'squamous cell breast carcinoma' SubClassOf 'squamous cell carcinoma' 'squamous cell breast carcinoma' SubClassOf 'squamous cell carcinoma' http://www.orpha.net/ORDO/Orphanet_263494 DPM3-CDG 'DPM3-CDG' SubClassOf 'Congenital disorder of glycosylation with dilated cardiomyopathy' 'DPM3-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'DPM3-CDG' SubClassOf 'Disorder of multiple glycosylation' 'DPM3-CDG' SubClassOf 'congenital disorder of glycosylation type I' 'DPM3-CDG' SubClassOf 'Congenital muscular dystrophy due to dystroglycanopathy' 'DPM3-CDG' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000640 papillary renal cell carcinoma 'papillary renal cell carcinoma' SubClassOf 'renal cell adenocarcinoma' 'papillary renal cell carcinoma' SubClassOf 'renal cell adenocarcinoma' http://www.orpha.net/ORDO/Orphanet_263487 COG5-CDG 'COG5-CDG' SubClassOf 'congenital disorder of glycosylation type II' 'COG5-CDG' SubClassOf 'Defect in conserved oligomeric Golgi complex' 'COG5-CDG' SubClassOf 'syndromic disease' 'COG5-CDG' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'COG5-CDG' SubClassOf 'congenital nervous system disorder' 'COG5-CDG' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000649 periodontitis 'periodontitis' SubClassOf 'head and neck disorder' http://www.orpha.net/ORDO/Orphanet_263482 Spondyloepiphyseal dysplasia, Maroteaux type 'Spondyloepiphyseal dysplasia, Maroteaux type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepiphyseal dysplasia, Maroteaux type' SubClassOf 'TRPV4-related bone disorder' 'Spondyloepiphyseal dysplasia, Maroteaux type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018240 'Spondyloepiphyseal dysplasia, Maroteaux type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' http://www.ebi.ac.uk/efo/EFO_0009001 Mastocytosis 'Mastocytosis' SubClassOf 'Genetic tumor of hematopoietic and lymphoid tissues' 'Mastocytosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019044 'Mastocytosis' SubClassOf 'Genetic tumor of hematopoietic and lymphoid tissues' http://www.ebi.ac.uk/efo/EFO_0009002 splenic disease 'splenic disease' SubClassOf 'abdominal and pelvic region disorder' http://www.ebi.ac.uk/efo/EFO_0000673 prostate adenocarcinoma 'prostate adenocarcinoma' SubClassOf 'adenocarcinoma' 'prostate adenocarcinoma' SubClassOf 'prostate carcinoma' 'prostate adenocarcinoma' SubClassOf 'adenocarcinoma' 'prostate adenocarcinoma' SubClassOf 'prostate carcinoma' http://purl.obolibrary.org/obo/UBERON_0002298 brainstem 'forebrain' DisjointWith 'brainstem' http://www.ebi.ac.uk/efo/EFO_0000660 polycystic ovary syndrome 'polycystic ovary syndrome' SubClassOf 'syndromic disease' 'polycystic ovary syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0000668 preeclampsia 'preeclampsia' SubClassOf 'Genetic hypertension' 'preeclampsia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015512 http://www.orpha.net/ORDO/Orphanet_263463 CHST3-related skeletal dysplasia 'CHST3-related skeletal dysplasia' SubClassOf 'Congenital disorder of glycosylation-related bone disorder' 'CHST3-related skeletal dysplasia' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'CHST3-related skeletal dysplasia' SubClassOf 'Disorder of O-xylosylglycan synthesis' 'CHST3-related skeletal dysplasia' SubClassOf 'Congenital disorder of glycosylation-related bone disorder' 'CHST3-related skeletal dysplasia' SubClassOf 'Disorder of O-xylosylglycan synthesis' http://www.ebi.ac.uk/efo/EFO_0009026 Bardet-Biedl syndrome 7 'Bardet-Biedl syndrome 7' SubClassOf 'Bardet-Biedl syndrome' 'Bardet-Biedl syndrome 7' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015229 http://www.ebi.ac.uk/efo/EFO_0009027 Bardet-Biedl syndrome 9 'Bardet-Biedl syndrome 9' SubClassOf 'Bardet-Biedl syndrome' 'Bardet-Biedl syndrome 9' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015229 http://www.ebi.ac.uk/efo/EFO_0009022 Bardet-Biedl syndrome 10 'Bardet-Biedl syndrome 10' SubClassOf 'Bardet-Biedl syndrome' 'Bardet-Biedl syndrome 10' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015229 http://www.ebi.ac.uk/efo/EFO_0009023 Bardet-Biedl syndrome 12 'Bardet-Biedl syndrome 12' SubClassOf 'Bardet-Biedl syndrome' 'Bardet-Biedl syndrome 12' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015229 http://www.ebi.ac.uk/efo/EFO_0009024 Bardet-Biedl syndrome 4 'Bardet-Biedl syndrome 4' SubClassOf 'Bardet-Biedl syndrome' 'Bardet-Biedl syndrome 4' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015229 http://www.ebi.ac.uk/efo/EFO_0009025 Bardet-Biedl syndrome 5 'Bardet-Biedl syndrome 5' SubClassOf 'Bardet-Biedl syndrome' 'Bardet-Biedl syndrome 5' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015229 http://www.ebi.ac.uk/efo/EFO_0000698 signet ring cell carcinoma 'signet ring cell carcinoma' SubClassOf 'adenocarcinoma' 'signet ring cell carcinoma' SubClassOf 'adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0000699 Sjogren syndrome 'Sjogren syndrome' SubClassOf 'syndromic disease' 'Sjogren syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0009014 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia '3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia' SubClassOf '3-methylglutaconic aciduria' '3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017359 http://www.ebi.ac.uk/efo/EFO_0000681 renal cell carcinoma 'renal cell carcinoma' SubClassOf 'adenocarcinoma' 'renal cell carcinoma' SubClassOf 'renal carcinoma' 'renal cell carcinoma' SubClassOf 'adenocarcinoma' 'renal cell carcinoma' SubClassOf 'renal carcinoma' http://www.ebi.ac.uk/efo/EFO_0000685 rheumatoid arthritis 'rheumatoid arthritis' SubClassOf 'arthritis' 'rheumatoid arthritis' SubClassOf 'arthritis' http://www.ebi.ac.uk/efo/EFO_0009021 Bardet-Biedl syndrome 1 'Bardet-Biedl syndrome 1' SubClassOf 'Bardet-Biedl syndrome' 'Bardet-Biedl syndrome 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015229 http://www.ebi.ac.uk/efo/EFO_0009048 Intrahepatic cholestasis of pregnancy 'Intrahepatic cholestasis of pregnancy' SubClassOf 'Genetic biliary tract disease' 'Intrahepatic cholestasis of pregnancy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015509 http://www.ebi.ac.uk/efo/EFO_0009044 Fanconi anemia complementation group A 'Fanconi anemia complementation group A' SubClassOf 'Fanconi anemia' 'Fanconi anemia complementation group A' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019391 http://www.ebi.ac.uk/efo/EFO_0009045 Fanconi anemia complementation group F 'Fanconi anemia complementation group F' SubClassOf 'Fanconi anemia' 'Fanconi anemia complementation group F' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019391 http://www.ebi.ac.uk/efo/EFO_0009046 Fanconi anemia complementation group G 'Fanconi anemia complementation group G' SubClassOf 'Fanconi anemia' 'Fanconi anemia complementation group G' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019391 http://purl.obolibrary.org/obo/MONDO_0011959 sweet syndrome 'sweet syndrome' SubClassOf 'syndromic disease' 'sweet syndrome' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_324585 Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain 'Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain' SubClassOf 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' 'Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain' SubClassOf 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' http://www.orpha.net/ORDO/Orphanet_324588 Familial dyskinesia and facial myokymia 'Familial dyskinesia and facial myokymia' SubClassOf 'movement disorder' http://www.orpha.net/ORDO/Orphanet_324581 Benign Samaritan congenital myopathy 'Benign Samaritan congenital myopathy' SubClassOf 'Congenital myopathy' 'Benign Samaritan congenital myopathy' SubClassOf 'Congenital myopathy' http://www.ebi.ac.uk/efo/EFO_0009043 Familial porphyria cutanea tarda 'Familial porphyria cutanea tarda' SubClassOf 'dermatitis' 'Familial porphyria cutanea tarda' SubClassOf 'Genodermatosis with ocular features' 'Familial porphyria cutanea tarda' EquivalentTo 'Porphyria cutanea tarda' and ('has modifier' some 'inherited') 'Familial porphyria cutanea tarda' SubClassOf 'Chronic hepatic porphyria' 'Familial porphyria cutanea tarda' SubClassOf 'Porphyria cutanea tarda' 'Familial porphyria cutanea tarda' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015104 'Familial porphyria cutanea tarda' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0015104 and ('has modifier' some 'inherited') 'Familial porphyria cutanea tarda' SubClassOf 'inherited porphyria' 'Familial porphyria cutanea tarda' SubClassOf 'Porphyria cutanea tarda' http://purl.obolibrary.org/obo/MONDO_0021300 adenoid cystic carcinoma of oropharynx 'adenoid cystic carcinoma of oropharynx' SubClassOf 'adenoid cystic carcinoma' 'adenoid cystic carcinoma of oropharynx' SubClassOf 'adenoid cystic carcinoma' http://www.orpha.net/ORDO/Orphanet_263410 Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease 'Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease' SubClassOf 'Disorder of thiamine metabolism and transport' 'Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease' SubClassOf 'syndromic intellectual disability' 'Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease' SubClassOf 'Disorder of thiamine metabolism and transport' http://www.orpha.net/ORDO/Orphanet_238455 Infantile dystonia-parkinsonism 'Infantile dystonia-parkinsonism' SubClassOf 'syndromic disease' 'Infantile dystonia-parkinsonism' SubClassOf 'Persistent combined dystonia' 'Infantile dystonia-parkinsonism' SubClassOf 'parkinsonian disorder' 'Infantile dystonia-parkinsonism' SubClassOf 'Persistent combined dystonia' http://www.orpha.net/ORDO/Orphanet_238459 SLC35A1-CDG 'SLC35A1-CDG' SubClassOf 'congenital disorder of glycosylation type II' 'SLC35A1-CDG' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'SLC35A1-CDG' SubClassOf 'Congenital disorder of glycosylation with nephropathy as a major feature' 'SLC35A1-CDG' SubClassOf 'Disorder of multiple glycosylation' 'SLC35A1-CDG' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'SLC35A1-CDG' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'SLC35A1-CDG' SubClassOf 'congenital nervous system disorder' 'SLC35A1-CDG' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0021309 malignant neoplasm of endocervix 'malignant neoplasm of endocervix' SubClassOf 'cervical cancer' 'malignant neoplasm of endocervix' SubClassOf 'cervical cancer' http://purl.obolibrary.org/obo/DOID_0050890 synucleinopathy 'synucleinopathy' SubClassOf 'Genetic neurodegenerative disease' 'synucleinopathy' SubClassOf 'Inborn errors of metabolism' 'synucleinopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024237 'synucleinopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019052 http://www.orpha.net/ORDO/Orphanet_238468 Hypohidrotic ectodermal dysplasia 'Hypohidrotic ectodermal dysplasia' SubClassOf 'Congenital alacrima' 'Hypohidrotic ectodermal dysplasia' SubClassOf 'Ectodermal dysplasia syndrome' 'Hypohidrotic ectodermal dysplasia' SubClassOf 'disorder of development or morphogenesis' 'Hypohidrotic ectodermal dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0021321 malignant tumor of extrahepatic bile duct 'malignant tumor of extrahepatic bile duct' SubClassOf 'extrahepatic bile duct neoplasm' 'malignant tumor of extrahepatic bile duct' SubClassOf 'extrahepatic bile duct neoplasm' http://purl.obolibrary.org/obo/MONDO_0021322 malignant tumor of meninges 'malignant tumor of meninges' SubClassOf 'meningeal neoplasm' 'malignant tumor of meninges' SubClassOf 'meningeal neoplasm' http://purl.obolibrary.org/obo/MONDO_0008343 pulmonary atresia with ventricular septal defect 'pulmonary atresia with ventricular septal defect' SubClassOf 'Conotruncal heart malformations' 'pulmonary atresia with ventricular septal defect' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016581 http://purl.obolibrary.org/obo/MONDO_0021327 carcinoma of urethra 'carcinoma of urethra' SubClassOf 'carcinoma' 'carcinoma of urethra' SubClassOf 'urethra cancer' 'carcinoma of urethra' SubClassOf 'carcinoma' 'carcinoma of urethra' SubClassOf 'urethra cancer' http://purl.obolibrary.org/obo/MONDO_0021313 eyelid cancer 'eyelid cancer' SubClassOf 'ocular cancer' 'eyelid cancer' SubClassOf 'ocular cancer' http://www.orpha.net/ORDO/Orphanet_238446 15q11q13 microduplication syndrome '15q11q13 microduplication syndrome' SubClassOf 'Partial duplication of the long arm of chromosome 15' '15q11q13 microduplication syndrome' SubClassOf 'epilepsy' '15q11q13 microduplication syndrome' SubClassOf 'syndromic disease' '15q11q13 microduplication syndrome' SubClassOf 'Rare genetic neurological disorder' '15q11q13 microduplication syndrome' SubClassOf 'predisposes towards' some 'autism' '15q11q13 microduplication syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0021316 malignant tumor of minor salivary gland 'malignant tumor of minor salivary gland' SubClassOf 'neoplasm of minor salivary gland' 'malignant tumor of minor salivary gland' SubClassOf 'neoplasm of minor salivary gland' http://www.orpha.net/ORDO/Orphanet_1581 Non-distal monosomy 10q 'Non-distal monosomy 10q' SubClassOf 'Partial monosomy of the long arm of chromosome 10' 'Non-distal monosomy 10q' SubClassOf 'Partial monosomy of the long arm of chromosome 10' http://purl.obolibrary.org/obo/MONDO_0021343 carcinoma of floor of mouth 'carcinoma of floor of mouth' SubClassOf 'malignant tumor of floor of mouth' 'carcinoma of floor of mouth' SubClassOf 'malignant tumor of floor of mouth' http://www.orpha.net/ORDO/Orphanet_1580 Distal monosomy 10p 'Distal monosomy 10p' SubClassOf 'Partial deletion of the short arm of chromosome 10' 'Distal monosomy 10p' SubClassOf 'Partial deletion of the short arm of chromosome 10' http://www.orpha.net/ORDO/Orphanet_1587 Monosomy 13q14 'Monosomy 13q14' SubClassOf 'Syndromic developmental defect of the eye' 'Monosomy 13q14' SubClassOf 'Partial deletion of the long arm of chromosome 13' 'Monosomy 13q14' SubClassOf 'Syndromic epicanthus' 'Monosomy 13q14' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_263455 Hyperinsulinism due to HNF4A deficiency 'Hyperinsulinism due to HNF4A deficiency' SubClassOf 'Diazoxide-sensitive diffuse hyperinsulinism' 'Hyperinsulinism due to HNF4A deficiency' SubClassOf 'Diazoxide-sensitive diffuse hyperinsulinism' http://www.orpha.net/ORDO/Orphanet_263458 Hyperinsulinism due to INSR deficiency 'Hyperinsulinism due to INSR deficiency' SubClassOf 'Familial hyperinsulinism' 'Hyperinsulinism due to INSR deficiency' SubClassOf 'Familial hyperinsulinism' http://www.orpha.net/ORDO/Orphanet_1590 Distal monosomy 13q 'Distal monosomy 13q' SubClassOf 'Syndromic anorectal malformation' 'Distal monosomy 13q' SubClassOf 'Partial deletion of the long arm of chromosome 13' 'Distal monosomy 13q' SubClassOf 'Syndromic anorectal malformation' 'Distal monosomy 13q' SubClassOf 'Partial deletion of the long arm of chromosome 13' http://www.orpha.net/ORDO/Orphanet_1596 Distal monosomy 15q 'Distal monosomy 15q' SubClassOf 'Partial deletion of the long arm of chromosome 15' 'Distal monosomy 15q' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1597 Distal monosomy 17q 'Distal monosomy 17q' SubClassOf 'Partial deletion of the long arm of chromosome 17' 'Distal monosomy 17q' SubClassOf 'Partial deletion of the long arm of chromosome 17' http://www.orpha.net/ORDO/Orphanet_263440 Neuroacanthocytosis 'Neuroacanthocytosis' SubClassOf 'disease arises from feature' some 'neurodegenerative disease' 'Neuroacanthocytosis' SubClassOf 'Huntington disease-like syndrome' 'Neuroacanthocytosis' SubClassOf 'disease has major feature' some 'dementia' 'Neuroacanthocytosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015548 http://www.orpha.net/ORDO/Orphanet_238475 Familial hypercholanemia 'Familial hypercholanemia' SubClassOf 'Bile acid synthesis defect with cholestasis and malabsorption' 'Familial hypercholanemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0021350 neoplasm of thorax 'neoplasm of thorax' SubClassOf 'neoplasm' 'neoplasm of thorax' SubClassOf 'thoracic disorder' 'neoplasm of thorax' SubClassOf 'neoplasm' http://www.orpha.net/ORDO/Orphanet_263417 Bartter syndrome with hypocalcemia 'Bartter syndrome with hypocalcemia' SubClassOf 'Syndrome with hypoparathyroidism' 'Bartter syndrome with hypocalcemia' SubClassOf 'Bartter syndrome' 'Bartter syndrome with hypocalcemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1540 Jackson-Weiss syndrome 'Jackson-Weiss syndrome' SubClassOf 'Acrocephalosyndactyly' 'Jackson-Weiss syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0021385 extrahepatic bile duct neoplasm 'extrahepatic bile duct neoplasm' SubClassOf 'bile duct neoplasm' 'extrahepatic bile duct neoplasm' SubClassOf 'bile duct neoplasm' http://www.orpha.net/ORDO/Orphanet_1547 Cryptomicrotia - brachydactyly - excess fingertip arch 'Cryptomicrotia - brachydactyly - excess fingertip arch' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Cryptomicrotia - brachydactyly - excess fingertip arch' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_1548 Cryptorchidism - arachnodactyly - intellectual disability 'Cryptorchidism - arachnodactyly - intellectual disability' SubClassOf 'congenital nervous system disorder' 'Cryptorchidism - arachnodactyly - intellectual disability' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Cryptorchidism - arachnodactyly - intellectual disability' SubClassOf 'syndromic intellectual disability' 'Cryptorchidism - arachnodactyly - intellectual disability' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_1545 Crisponi syndrome 'Crisponi syndrome' SubClassOf 'Cold-induced sweating syndrome' 'Crisponi syndrome' SubClassOf 'Cold-induced sweating syndrome-hyperthermia spectrum' http://www.orpha.net/ORDO/Orphanet_1541 Craniosynostosis, Boston type 'Craniosynostosis, Boston type' SubClassOf 'Syndromic craniosynostosis' 'Craniosynostosis, Boston type' SubClassOf 'Syndromic craniosynostosis' http://www.orpha.net/ORDO/Orphanet_1538 Craniosynostosis - Dandy-Walker malformation - hydrocephalus 'Craniosynostosis - Dandy-Walker malformation - hydrocephalus' SubClassOf 'brain disease' 'Craniosynostosis - Dandy-Walker malformation - hydrocephalus' SubClassOf 'central nervous system malformation' 'Craniosynostosis - Dandy-Walker malformation - hydrocephalus' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Craniosynostosis - Dandy-Walker malformation - hydrocephalus' SubClassOf 'Familial scaphocephaly syndrome' 'Craniosynostosis - Dandy-Walker malformation - hydrocephalus' SubClassOf 'Familial scaphocephaly syndrome' http://www.orpha.net/ORDO/Orphanet_324611 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation 'Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation' SubClassOf 'Autosomal dominant Charcot-Marie-Tooth disease type 2' 'Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://www.orpha.net/ORDO/Orphanet_1551 Familial benign copper deficiency 'Familial benign copper deficiency' SubClassOf 'Disorder of copper metabolism' 'Familial benign copper deficiency' SubClassOf 'Disorder of copper metabolism' http://www.orpha.net/ORDO/Orphanet_1555 Cutis gyrata - acanthosis nigricans - craniosynostosis 'Cutis gyrata - acanthosis nigricans - craniosynostosis' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Cutis gyrata - acanthosis nigricans - craniosynostosis' SubClassOf 'Syndromic craniosynostosis' 'Cutis gyrata - acanthosis nigricans - craniosynostosis' SubClassOf 'dermis disorder' 'Cutis gyrata - acanthosis nigricans - craniosynostosis' SubClassOf 'autosomal dominant disease' 'Cutis gyrata - acanthosis nigricans - craniosynostosis' SubClassOf 'genetic skin disease' 'Cutis gyrata - acanthosis nigricans - craniosynostosis' SubClassOf 'Genetic dermis disorder' 'Cutis gyrata - acanthosis nigricans - craniosynostosis' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Cutis gyrata - acanthosis nigricans - craniosynostosis' SubClassOf 'Syndromic craniosynostosis' 'Cutis gyrata - acanthosis nigricans - craniosynostosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019276 http://www.orpha.net/ORDO/Orphanet_1552 Currarino triad 'Currarino triad' SubClassOf 'Syndromic anorectal malformation' 'Currarino triad' SubClassOf 'Dysostosis of genetic origin' 'Currarino triad' SubClassOf 'syndromic uterovaginal malformation' 'Currarino triad' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' 'Currarino triad' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1553 Curry-Jones syndrome 'Curry-Jones syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Curry-Jones syndrome' SubClassOf 'Syndromic craniosynostosis' 'Curry-Jones syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' 'Curry-Jones syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_324604 Classic multiminicore myopathy 'Classic multiminicore myopathy' SubClassOf 'TTN-related myopathy' 'Classic multiminicore myopathy' SubClassOf 'Multiminicore myopathy' 'Classic multiminicore myopathy' SubClassOf 'Multiminicore myopathy' http://www.orpha.net/ORDO/Orphanet_324601 X-linked cleft palate and ankyloglossia 'X-linked cleft palate and ankyloglossia' SubClassOf 'Orofacial clefting syndrome' 'X-linked cleft palate and ankyloglossia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0033352 neuropathy, congenital hypomelinating 'neuropathy, congenital hypomelinating' SubClassOf 'Genetic peripheral neuropathy' 'neuropathy, congenital hypomelinating' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020127 http://www.orpha.net/ORDO/Orphanet_1561 Fatal infantile cytochrome C oxidase deficiency 'Fatal infantile cytochrome C oxidase deficiency' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' 'Fatal infantile cytochrome C oxidase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1562 Dacryocystitis - osteopoikilosis 'Dacryocystitis - osteopoikilosis' SubClassOf 'autosomal recessive disease' http://www.orpha.net/ORDO/Orphanet_1568 X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures 'X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures' SubClassOf 'congenital nervous system disorder' 'X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures' SubClassOf 'central nervous system malformation' 'X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures' SubClassOf 'X-linked intellectual disability - hypogammaglobulinemia - progressive neurological deterioration' http://www.orpha.net/ORDO/Orphanet_1566 Dandy-Walker malformation - postaxial polydactyly 'Dandy-Walker malformation - postaxial polydactyly' SubClassOf 'Rare genetic neurological disorder' 'Dandy-Walker malformation - postaxial polydactyly' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Dandy-Walker malformation - postaxial polydactyly' SubClassOf 'central nervous system malformation' http://www.orpha.net/ORDO/Orphanet_1563 Dahlberg-Borer-Newcomer syndrome 'Dahlberg-Borer-Newcomer syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Dahlberg-Borer-Newcomer syndrome' SubClassOf 'Syndromic lymphedema' 'Dahlberg-Borer-Newcomer syndrome' SubClassOf 'Syndrome with hypoparathyroidism' 'Dahlberg-Borer-Newcomer syndrome' SubClassOf 'Milroy disease' 'Dahlberg-Borer-Newcomer syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Dahlberg-Borer-Newcomer syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_33445 Neuroectodermal melanolysosomal disease 'Neuroectodermal melanolysosomal disease' SubClassOf 'Overgrowth syndrome' 'Neuroectodermal melanolysosomal disease' SubClassOf 'Genetic hyperpigmentation of the skin' 'Neuroectodermal melanolysosomal disease' SubClassOf 'Overgrowth syndrome' 'Neuroectodermal melanolysosomal disease' SubClassOf 'Genetic hyperpigmentation of the skin' http://www.orpha.net/ORDO/Orphanet_1572 Common variable immunodeficiency 'Common variable immunodeficiency' SubClassOf 'Inherited cancer-predisposing syndrome' 'Common variable immunodeficiency' SubClassOf 'Syndromic agammaglobulinemia' 'Common variable immunodeficiency' SubClassOf 'Inherited cancer-predisposing syndrome' 'Common variable immunodeficiency' SubClassOf 'Immunodeficiency predominantly affecting antibody production' http://www.orpha.net/ORDO/Orphanet_1573 Hypotrichosis with juvenile macular degeneration 'Hypotrichosis with juvenile macular degeneration' SubClassOf 'Ectodermal dysplasia syndrome' 'Hypotrichosis with juvenile macular degeneration' SubClassOf 'has modifier' some 'congenital' 'Hypotrichosis with juvenile macular degeneration' SubClassOf 'hypotrichosis' 'Hypotrichosis with juvenile macular degeneration' SubClassOf 'Ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0021396 polyp of vulva 'polyp of vulva' SubClassOf 'polyp' 'polyp of vulva' SubClassOf 'polyp' http://www.orpha.net/ORDO/Orphanet_1570 Symbrachydactyly of hands and feet 'Symbrachydactyly of hands and feet' SubClassOf 'Brachydactyly' 'Symbrachydactyly of hands and feet' SubClassOf 'Brachydactyly' http://www.orpha.net/ORDO/Orphanet_1571 Knobloch syndrome 'Knobloch syndrome' SubClassOf 'Vitreoretinal degeneration' 'Knobloch syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Knobloch syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1578 Dehydratase deficiency 'Dehydratase deficiency' SubClassOf 'Hyperphenylalaninemia' 'Dehydratase deficiency' SubClassOf 'Hyperphenylalaninemia' http://www.orpha.net/ORDO/Orphanet_1576 Infantile bilateral striatal necrosis 'Infantile bilateral striatal necrosis' SubClassOf 'neurodegenerative disease' 'Infantile bilateral striatal necrosis' SubClassOf 'striatonigral degeneration' 'Infantile bilateral striatal necrosis' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_1574 Retinal degeneration - nanophthalmos - glaucoma 'Retinal degeneration - nanophthalmos - glaucoma' SubClassOf 'Retinal dystrophy' 'Retinal degeneration - nanophthalmos - glaucoma' SubClassOf 'Retinal dystrophy' http://www.orpha.net/ORDO/Orphanet_397596 Activated PIK3-delta syndrome 'Activated PIK3-delta syndrome' SubClassOf 'Agammaglobulinemia' http://www.orpha.net/ORDO/Orphanet_141007 Orofaciodigital syndrome type 9 'Orofaciodigital syndrome type 9' SubClassOf 'Orofaciodigital syndrome' 'Orofaciodigital syndrome type 9' SubClassOf 'Orofaciodigital syndrome' http://www.orpha.net/ORDO/Orphanet_300605 Juvenile amyotrophic lateral sclerosis 'Juvenile amyotrophic lateral sclerosis' SubClassOf 'familial amyotrophic lateral sclerosis' 'Juvenile amyotrophic lateral sclerosis' SubClassOf 'Genetic motor neuron disease' 'Juvenile amyotrophic lateral sclerosis' SubClassOf 'familial amyotrophic lateral sclerosis' http://www.orpha.net/ORDO/Orphanet_397590 Silver-Russell syndrome due to a point mutation 'Silver-Russell syndrome due to a point mutation' SubClassOf 'Silver-Russell syndrome' 'Silver-Russell syndrome due to a point mutation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0008394 http://www.orpha.net/ORDO/Orphanet_397593 Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency 'Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency' SubClassOf 'Mitochondrial disease' http://www.orpha.net/ORDO/Orphanet_1514 Craniodigital syndrome - intellectual disability 'Craniodigital syndrome - intellectual disability' SubClassOf 'congenital nervous system disorder' 'Craniodigital syndrome - intellectual disability' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Craniodigital syndrome - intellectual disability' SubClassOf 'syndromic intellectual disability' 'Craniodigital syndrome - intellectual disability' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_1515 Cranioectodermal dysplasia 'Cranioectodermal dysplasia' SubClassOf 'craniosynostosis syndrome, autosomal recessive' 'Cranioectodermal dysplasia' SubClassOf 'Syndromic urogenital tract malformation' 'Cranioectodermal dysplasia' SubClassOf 'Syndromic craniosynostosis' 'Cranioectodermal dysplasia' SubClassOf 'Short rib-polydactyly syndrome' 'Cranioectodermal dysplasia' SubClassOf 'Ectodermal dysplasia syndrome' 'Cranioectodermal dysplasia' SubClassOf 'Genetic renal tubular disease' 'Cranioectodermal dysplasia' SubClassOf 'Syndromic craniosynostosis' 'Cranioectodermal dysplasia' SubClassOf 'Short rib-polydactyly syndrome' 'Cranioectodermal dysplasia' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_1512 Crane-Heise syndrome 'Crane-Heise syndrome' SubClassOf 'syndromic intellectual disability' 'Crane-Heise syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Crane-Heise syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Crane-Heise syndrome' SubClassOf 'congenital nervous system disorder' 'Crane-Heise syndrome' SubClassOf 'Orofacial clefting syndrome' 'Crane-Heise syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1513 Craniodiaphyseal dysplasia 'Craniodiaphyseal dysplasia' SubClassOf 'cranial malformation' 'Craniodiaphyseal dysplasia' SubClassOf 'Craniometaphyseal dysplasia' 'Craniodiaphyseal dysplasia' SubClassOf 'hyperostosis' 'Craniodiaphyseal dysplasia' SubClassOf 'Primary bone dysplasia with increased bone density' http://www.orpha.net/ORDO/Orphanet_1509 Coxopodopatellar syndrome 'Coxopodopatellar syndrome' SubClassOf 'Patellar dysostosis' 'Coxopodopatellar syndrome' SubClassOf 'Patellar dysostosis' http://www.orpha.net/ORDO/Orphanet_1507 Autosomal recessive Robinow syndrome 'Autosomal recessive Robinow syndrome' SubClassOf 'autosomal recessive disease' 'Autosomal recessive Robinow syndrome' SubClassOf 'Robinow syndrome' 'Autosomal recessive Robinow syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019978 http://www.orpha.net/ORDO/Orphanet_1508 Coxoauricular syndrome 'Coxoauricular syndrome' SubClassOf 'bone disease' http://www.orpha.net/ORDO/Orphanet_1505 Short rib-polydactyly syndrome 'Short rib-polydactyly syndrome' SubClassOf 'thoracic malformation' 'Short rib-polydactyly syndrome' SubClassOf 'syndromic disease' 'Short rib-polydactyly syndrome' SubClassOf 'Short rib dysplasia' 'Short rib-polydactyly syndrome' SubClassOf 'Short rib dysplasia' http://www.orpha.net/ORDO/Orphanet_1506 Thin ribs - tubular bones - dysmorphism 'Thin ribs - tubular bones - dysmorphism' SubClassOf 'Slender bone dysplasia' 'Thin ribs - tubular bones - dysmorphism' SubClassOf 'Slender bone dysplasia' http://www.orpha.net/ORDO/Orphanet_1525 Cranio-osteoarthropathy 'Cranio-osteoarthropathy' SubClassOf 'Primary hypertrophic osteoarthropathy' 'Cranio-osteoarthropathy' SubClassOf 'Primary hypertrophic osteoarthropathy' http://www.orpha.net/ORDO/Orphanet_1524 Craniomicromelic syndrome 'Craniomicromelic syndrome' SubClassOf 'Syndromic craniosynostosis' 'Craniomicromelic syndrome' SubClassOf 'Syndromic craniosynostosis' http://www.orpha.net/ORDO/Orphanet_1521 Craniofrontonasal dysplasia - Poland anomaly 'Craniofrontonasal dysplasia - Poland anomaly' SubClassOf 'syndromic breast hypoplasia/aplasia' 'Craniofrontonasal dysplasia - Poland anomaly' SubClassOf 'Frontonasal dysplasia' 'Craniofrontonasal dysplasia - Poland anomaly' SubClassOf 'Frontonasal dysplasia' http://www.orpha.net/ORDO/Orphanet_1522 Craniometaphyseal dysplasia 'Craniometaphyseal dysplasia' SubClassOf 'familial osteosclerosis' http://www.orpha.net/ORDO/Orphanet_1520 Craniofrontonasal dysplasia 'Craniofrontonasal dysplasia' SubClassOf 'X-linked syndromic intellectual disability' 'Craniofrontonasal dysplasia' SubClassOf 'Acrofacial dysostosis' 'Craniofrontonasal dysplasia' SubClassOf 'neurocristopathy' 'Craniofrontonasal dysplasia' SubClassOf 'congenital nervous system disorder' 'Craniofrontonasal dysplasia' SubClassOf 'Frontonasal dysplasia' 'Craniofrontonasal dysplasia' SubClassOf 'Acrofacial dysostosis' 'Craniofrontonasal dysplasia' SubClassOf 'Frontonasal dysplasia' 'Craniofrontonasal dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 http://www.orpha.net/ORDO/Orphanet_1519 Hypertelorism, Teebi type 'Hypertelorism, Teebi type' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Hypertelorism, Teebi type' SubClassOf 'Frontonasal dysplasia' 'Hypertelorism, Teebi type' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Hypertelorism, Teebi type' SubClassOf 'Frontonasal dysplasia' http://www.orpha.net/ORDO/Orphanet_1516 Craniofacial dyssynostosis 'Craniofacial dyssynostosis' SubClassOf 'cranial malformation' 'Craniofacial dyssynostosis' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_1517 Hypertrichotic osteochondrodysplasia, Cantu type 'Hypertrichotic osteochondrodysplasia, Cantu type' SubClassOf 'disease has feature' some 'Hypertrichosis' 'Hypertrichotic osteochondrodysplasia, Cantu type' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Hypertrichotic osteochondrodysplasia, Cantu type' SubClassOf 'Dysostosis of genetic origin' 'Hypertrichotic osteochondrodysplasia, Cantu type' SubClassOf 'osteochondrodysplasia' http://www.orpha.net/ORDO/Orphanet_1535 Craniosynostosis - dysmorphism - brachydactyly 'Craniosynostosis - dysmorphism - brachydactyly' SubClassOf 'Syndromic craniosynostosis' 'Craniosynostosis - dysmorphism - brachydactyly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1532 Gómez-López-Hernández syndrome 'Gómez-López-Hernández syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Gómez-López-Hernández syndrome' SubClassOf 'central nervous system malformation' 'Gómez-López-Hernández syndrome' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_1533 Craniosynostosis - fibular aplasia 'Craniosynostosis - fibular aplasia' SubClassOf 'Syndromic craniosynostosis' 'Craniosynostosis - fibular aplasia' SubClassOf 'Syndromic craniosynostosis' http://www.orpha.net/ORDO/Orphanet_1530 Craniosynostosis - cataract 'Craniosynostosis - cataract' SubClassOf 'Syndromic craniosynostosis' 'Craniosynostosis - cataract' SubClassOf 'Syndromic craniosynostosis' http://www.orpha.net/ORDO/Orphanet_1531 Craniosynostosis 'Craniosynostosis' SubClassOf 'cranial malformation' 'Craniosynostosis' SubClassOf 'Dysostosis of genetic origin' 'Craniosynostosis' SubClassOf 'Dysostosis of genetic origin' http://www.orpha.net/ORDO/Orphanet_1529 Craniofacial-deafness-hand syndrome 'Craniofacial-deafness-hand syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Craniofacial-deafness-hand syndrome' SubClassOf 'congenital nervous system disorder' 'Craniofacial-deafness-hand syndrome' SubClassOf 'Syndromic genetic deafness' 'Craniofacial-deafness-hand syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Craniofacial-deafness-hand syndrome' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_1527 Craniosynostosis, Philadelphia type 'Craniosynostosis, Philadelphia type' SubClassOf 'Syndromic craniosynostosis' 'Craniosynostosis, Philadelphia type' SubClassOf 'Syndromic craniosynostosis' http://www.orpha.net/ORDO/Orphanet_1528 Craniotelencephalic dysplasia 'Craniotelencephalic dysplasia' SubClassOf 'Syndromic craniosynostosis' 'Craniotelencephalic dysplasia' SubClassOf 'Lissencephaly' 'Craniotelencephalic dysplasia' SubClassOf 'Syndromic craniosynostosis' http://www.orpha.net/ORDO/Orphanet_45448 Miyoshi myopathy 'Miyoshi myopathy' SubClassOf 'Qualitative or quantitative defects of dysferlin' 'Miyoshi myopathy' SubClassOf 'Autosomal recessive distal myopathy' 'Miyoshi myopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000102 B-Cell Prolymphocytic Leukemia 'B-Cell Prolymphocytic Leukemia' SubClassOf 'prolymphocytic leukemia' 'B-Cell Prolymphocytic Leukemia' SubClassOf 'prolymphocytic leukemia' http://www.ebi.ac.uk/efo/EFO_1000108 Benign Carotid Body Paraganglioma 'Benign Carotid Body Paraganglioma' SubClassOf 'Genetic endocrine tumor' http://www.ebi.ac.uk/efo/EFO_1000105 Basaloid Carcinoma 'Basaloid Carcinoma' SubClassOf 'carcinoma' 'Basaloid Carcinoma' SubClassOf 'carcinoma' http://www.ebi.ac.uk/efo/EFO_1000106 Benign Adrenal Gland Pheochromocytoma 'Benign Adrenal Gland Pheochromocytoma' SubClassOf 'adrenal gland pheochromocytoma' 'Benign Adrenal Gland Pheochromocytoma' SubClassOf 'adrenal gland pheochromocytoma' http://www.ebi.ac.uk/efo/EFO_1000110 Benign Conjunctival Neoplasm 'Benign Conjunctival Neoplasm' SubClassOf 'Rare genetic neurological disorder' 'Benign Conjunctival Neoplasm' SubClassOf 'Conjunctival tumor' 'Benign Conjunctival Neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020204 'Benign Conjunctival Neoplasm' SubClassOf 'Conjunctival tumor' 'Benign Conjunctival Neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.orpha.net/ORDO/Orphanet_309031 Pancreatic triacylglycerol lipase deficiency 'Pancreatic triacylglycerol lipase deficiency' SubClassOf 'Disorder of lipid absorption and transport' 'Pancreatic triacylglycerol lipase deficiency' SubClassOf 'Disorder of lipid absorption and transport' http://www.ebi.ac.uk/efo/EFO_1000125 Bladder Adenocarcinoma 'Bladder Adenocarcinoma' SubClassOf 'urinary bladder carcinoma' 'Bladder Adenocarcinoma' SubClassOf 'adenocarcinoma' 'Bladder Adenocarcinoma' SubClassOf 'urinary bladder carcinoma' 'Bladder Adenocarcinoma' SubClassOf 'adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1000124 Biphasic Mesothelioma 'Biphasic Mesothelioma' SubClassOf 'Malignant Mesothelioma' 'Biphasic Mesothelioma' SubClassOf 'Malignant Mesothelioma' http://www.ebi.ac.uk/efo/EFO_1000121 Benign Smooth Muscle Neoplasm 'Benign Smooth Muscle Neoplasm' SubClassOf 'smooth muscle tumor' 'Benign Smooth Muscle Neoplasm' SubClassOf 'benign muscle neoplasm' 'Benign Smooth Muscle Neoplasm' SubClassOf 'benign muscle neoplasm' 'Benign Smooth Muscle Neoplasm' SubClassOf 'smooth muscle tumor' http://www.ebi.ac.uk/efo/EFO_1000129 Bladder Small Cell Neuroendocrine Carcinoma 'Bladder Small Cell Neuroendocrine Carcinoma' SubClassOf 'urinary bladder carcinoma' 'Bladder Small Cell Neuroendocrine Carcinoma' SubClassOf 'small cell carcinoma' 'Bladder Small Cell Neuroendocrine Carcinoma' SubClassOf 'urinary bladder carcinoma' 'Bladder Small Cell Neuroendocrine Carcinoma' SubClassOf 'small cell carcinoma' http://www.ebi.ac.uk/efo/EFO_1000130 Bladder Squamous Cell Carcinoma 'Bladder Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' 'Bladder Squamous Cell Carcinoma' SubClassOf 'urinary bladder carcinoma' 'Bladder Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' 'Bladder Squamous Cell Carcinoma' SubClassOf 'urinary bladder carcinoma' http://www.ebi.ac.uk/efo/EFO_1000131 Blast Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive 'Blast Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive' SubClassOf 'chronic myelogenous leukemia' 'Blast Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive' SubClassOf 'chronic myelogenous leukemia' http://www.orpha.net/ORDO/Orphanet_309015 Familial lipoprotein lipase deficiency 'Familial lipoprotein lipase deficiency' SubClassOf 'familial hyperlipidemia' 'Familial lipoprotein lipase deficiency' SubClassOf 'familial chylomicronemia syndrome' 'Familial lipoprotein lipase deficiency' SubClassOf 'hyperlipoproteinemia' http://www.ebi.ac.uk/efo/EFO_1000146 Breast Mucosa-Associated Lymphoid Tissue Lymphoma 'Breast Mucosa-Associated Lymphoid Tissue Lymphoma' SubClassOf 'MALT lymphoma' 'Breast Mucosa-Associated Lymphoid Tissue Lymphoma' SubClassOf 'MALT lymphoma' http://www.ebi.ac.uk/efo/EFO_1000143 Breast Carcinoma by Gene Expression Profile 'Breast Carcinoma by Gene Expression Profile' SubClassOf 'breast carcinoma' 'Breast Carcinoma by Gene Expression Profile' SubClassOf 'breast carcinoma' http://www.orpha.net/ORDO/Orphanet_309020 Familial apolipoprotein C-II deficiency 'Familial apolipoprotein C-II deficiency' SubClassOf 'familial chylomicronemia syndrome' 'Familial apolipoprotein C-II deficiency' SubClassOf 'familial hyperlipidemia' http://www.orpha.net/ORDO/Orphanet_309025 Mevalonate kinase deficiency 'Mevalonate kinase deficiency' SubClassOf 'Sterol biosynthesis disorder' 'Mevalonate kinase deficiency' SubClassOf 'Hereditary periodic fever syndrome' 'Mevalonate kinase deficiency' SubClassOf 'Rare syndromic dyslipidemia' 'Mevalonate kinase deficiency' SubClassOf 'Sterol biosynthesis disorder' http://www.ebi.ac.uk/efo/EFO_1000158 Central Nervous System Neoplasm 'Central Nervous System Neoplasm' SubClassOf 'nervous system neoplasm' 'Central Nervous System Neoplasm' SubClassOf 'nervous system neoplasm' http://www.ebi.ac.uk/efo/EFO_1000157 Central Nervous System Lymphoma 'Central Nervous System Lymphoma' SubClassOf 'Rare genetic neurological disorder' 'Central Nervous System Lymphoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.ebi.ac.uk/efo/EFO_1000152 Cavernous Hemangioma of the Face 'Cavernous Hemangioma of the Face' SubClassOf 'Cavernous Hemangioma' 'Cavernous Hemangioma of the Face' SubClassOf 'Cavernous Hemangioma' http://www.orpha.net/ORDO/Orphanet_309028 Disorder of lipid absorption and transport 'Disorder of lipid absorption and transport' SubClassOf 'pancreas disease' 'Disorder of lipid absorption and transport' SubClassOf 'has modifier' some 'rare' 'Disorder of lipid absorption and transport' SubClassOf 'Disorder of lipid metabolism' 'Disorder of lipid absorption and transport' SubClassOf 'Disorder of lipid metabolism' http://www.ebi.ac.uk/efo/EFO_1000162 Cervical Adenosquamous Carcinoma 'Cervical Adenosquamous Carcinoma' SubClassOf 'Adenosquamous Carcinoma' 'Cervical Adenosquamous Carcinoma' SubClassOf 'Adenosquamous Carcinoma' http://www.ebi.ac.uk/efo/EFO_1000169 Cervical Mucinous Adenocarcinoma, Minimal Deviation Variant 'Cervical Mucinous Adenocarcinoma, Minimal Deviation Variant' SubClassOf 'cervical mucinous adenocarcinoma' 'Cervical Mucinous Adenocarcinoma, Minimal Deviation Variant' SubClassOf 'cervical mucinous adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1000167 Cervical Large Cell Neuroendocrine Carcinoma 'Cervical Large Cell Neuroendocrine Carcinoma' SubClassOf 'large cell neuroendocrine carcinoma' 'Cervical Large Cell Neuroendocrine Carcinoma' SubClassOf 'large cell neuroendocrine carcinoma' http://www.orpha.net/ORDO/Orphanet_397606 Chronic diarrhea with hereditary sensory and autonomic neuropathy 'Chronic diarrhea with hereditary sensory and autonomic neuropathy' SubClassOf 'inherited prion disease' 'Chronic diarrhea with hereditary sensory and autonomic neuropathy' SubClassOf 'Autosomal dominant hereditary sensory and autonomic neuropathy' 'Chronic diarrhea with hereditary sensory and autonomic neuropathy' SubClassOf 'Autosomal dominant hereditary sensory and autonomic neuropathy' http://www.ebi.ac.uk/efo/EFO_1000163 Cervical Clear Cell Adenocarcinoma 'Cervical Clear Cell Adenocarcinoma' SubClassOf 'cervical adenocarcinoma' 'Cervical Clear Cell Adenocarcinoma' SubClassOf 'clear cell adenocarcinoma' 'Cervical Clear Cell Adenocarcinoma' SubClassOf 'cervical adenocarcinoma' 'Cervical Clear Cell Adenocarcinoma' SubClassOf 'clear cell adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1000164 Cervical Endometrioid Adenocarcinoma 'Cervical Endometrioid Adenocarcinoma' SubClassOf 'endometrioid carcinoma' 'Cervical Endometrioid Adenocarcinoma' SubClassOf 'cervical adenocarcinoma' 'Cervical Endometrioid Adenocarcinoma' SubClassOf 'endometrioid carcinoma' 'Cervical Endometrioid Adenocarcinoma' SubClassOf 'cervical adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0000514 germ cell tumor 'germ cell tumor' SubClassOf 'neoplasm' 'germ cell tumor' SubClassOf 'neoplasm' http://www.orpha.net/ORDO/Orphanet_397612 Macrocephaly-developmental delay syndrome 'Macrocephaly-developmental delay syndrome' SubClassOf 'congenital nervous system disorder' 'Macrocephaly-developmental delay syndrome' SubClassOf 'syndromic intellectual disability' 'Macrocephaly-developmental delay syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Macrocephaly-developmental delay syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_371024 Qualitative or quantitative defects of alpha-dystroglycan 'Qualitative or quantitative defects of alpha-dystroglycan' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of alpha-dystroglycan' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' http://www.ebi.ac.uk/efo/EFO_1000172 cervical squamous cell carcinoma 'cervical squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' 'cervical squamous cell carcinoma' SubClassOf 'cervical carcinoma' 'cervical squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' 'cervical squamous cell carcinoma' SubClassOf 'cervical carcinoma' http://www.ebi.ac.uk/efo/EFO_1000173 Cervical Wilms Tumor 'Cervical Wilms Tumor' SubClassOf 'Nephroblastoma' 'Cervical Wilms Tumor' SubClassOf 'kidney Wilms tumor' 'Cervical Wilms Tumor' SubClassOf 'Nephroblastoma' 'Cervical Wilms Tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0006058 http://www.ebi.ac.uk/efo/EFO_1000170 Cervical Mucinous Adenocarcinoma, Villoglandular Variant 'Cervical Mucinous Adenocarcinoma, Villoglandular Variant' SubClassOf 'cervical mucinous adenocarcinoma' 'Cervical Mucinous Adenocarcinoma, Villoglandular Variant' SubClassOf 'cervical mucinous adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1000171 Cervical Small Cell Carcinoma 'Cervical Small Cell Carcinoma' SubClassOf 'small cell carcinoma' 'Cervical Small Cell Carcinoma' SubClassOf 'cervical carcinoma' 'Cervical Small Cell Carcinoma' SubClassOf 'small cell carcinoma' 'Cervical Small Cell Carcinoma' SubClassOf 'cervical carcinoma' http://www.orpha.net/ORDO/Orphanet_309001 Disorder of carbohydrate absorption and transport 'Disorder of carbohydrate absorption and transport' SubClassOf 'Disorder of carbohydrate metabolism' 'Disorder of carbohydrate absorption and transport' SubClassOf 'Disorder of carbohydrate metabolism' http://www.orpha.net/ORDO/Orphanet_397615 Obesity due to CEP19 deficiency 'Obesity due to CEP19 deficiency' SubClassOf 'Genetic non-syndromic obesity' 'Obesity due to CEP19 deficiency' SubClassOf 'Genetic non-syndromic obesity' http://www.ebi.ac.uk/efo/EFO_1000178 Chronic Eosinophilic Leukemia, Not Otherwise Specified 'Chronic Eosinophilic Leukemia, Not Otherwise Specified' SubClassOf 'hereditary disorder of connective tissue' http://www.orpha.net/ORDO/Orphanet_397618 Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome 'Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome' SubClassOf 'Genetic vitreous-retinal disease' 'Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome' SubClassOf 'foveal hypoplasia' 'Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome' SubClassOf 'Optic neuropathy' 'Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome' SubClassOf 'Genetic vitreous-retinal disease' 'Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome' SubClassOf 'Optic neuropathy' http://www.ebi.ac.uk/efo/EFO_1000179 Chronic Neutrophilic Leukemia 'Chronic Neutrophilic Leukemia' SubClassOf 'hereditary disorder of connective tissue' http://www.orpha.net/ORDO/Orphanet_371007 Congenital muscular dystrophy with hyperlaxity 'Congenital muscular dystrophy with hyperlaxity' SubClassOf 'Congenital muscular dystrophy' 'Congenital muscular dystrophy with hyperlaxity' SubClassOf 'Congenital muscular dystrophy' http://www.ebi.ac.uk/efo/EFO_1000174 Chondroid Chordoma 'Chondroid Chordoma' SubClassOf 'Chordoma' 'Chondroid Chordoma' SubClassOf 'Rare genetic neurological disorder' 'Chondroid Chordoma' SubClassOf 'Chordoma' 'Chondroid Chordoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0008978 'Chondroid Chordoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 'Chondroid Chordoma' SubClassOf 'hereditary disorder of connective tissue' http://www.ebi.ac.uk/efo/EFO_0000503 gastric adenocarcinoma 'gastric adenocarcinoma' SubClassOf 'adenocarcinoma' 'gastric adenocarcinoma' SubClassOf 'gastric carcinoma' 'gastric adenocarcinoma' SubClassOf 'adenocarcinoma' 'gastric adenocarcinoma' SubClassOf 'gastric carcinoma' http://www.ebi.ac.uk/efo/EFO_0000504 gastric intestinal type adenocarcinoma 'gastric intestinal type adenocarcinoma' SubClassOf 'Intestinal Type Adenocarcinoma' 'gastric intestinal type adenocarcinoma' SubClassOf 'gastric adenocarcinoma' 'gastric intestinal type adenocarcinoma' SubClassOf 'Intestinal Type Adenocarcinoma' 'gastric intestinal type adenocarcinoma' SubClassOf 'gastric adenocarcinoma' http://www.orpha.net/ORDO/Orphanet_397623 Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome 'Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome' SubClassOf 'congenital nervous system disorder' 'Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' 'Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome' SubClassOf 'genetic otorhinolaryngological malformation' 'Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome' SubClassOf 'Syndromic genetic deafness' 'Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' http://www.orpha.net/ORDO/Orphanet_309005 Disorder of lipid metabolism 'Disorder of lipid metabolism' SubClassOf 'Inborn errors of metabolism' 'Disorder of lipid metabolism' SubClassOf 'Inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_251380 Hereditary persistence of fetal hemoglobin - sickle cell disease 'Hereditary persistence of fetal hemoglobin - sickle cell disease' SubClassOf 'Sickle cell disease associated with an other hemoglobin anomaly' 'Hereditary persistence of fetal hemoglobin - sickle cell disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_251383 CK syndrome 'CK syndrome' SubClassOf 'disorder of development or morphogenesis' 'CK syndrome' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'CK syndrome' SubClassOf 'syndromic intellectual disability' 'CK syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'CK syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000538 hypertrophic cardiomyopathy 'hypertrophic cardiomyopathy' SubClassOf 'intrinsic cardiomyopathy' 'hypertrophic cardiomyopathy' SubClassOf 'intrinsic cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_251393 Localized junctional epidermolysis bullosa, non-Herlitz type 'Localized junctional epidermolysis bullosa, non-Herlitz type' SubClassOf 'Junctional epidermolysis bullosa, non-Herlitz type' 'Localized junctional epidermolysis bullosa, non-Herlitz type' SubClassOf 'Junctional epidermolysis bullosa, non-Herlitz type' http://www.orpha.net/ORDO/Orphanet_251365 Sickle cell - hemoglobin C disease 'Sickle cell - hemoglobin C disease' SubClassOf 'Sickle cell disease associated with an other hemoglobin anomaly' 'Sickle cell - hemoglobin C disease' SubClassOf 'Sickle cell disease associated with an other hemoglobin anomaly' http://www.ebi.ac.uk/efo/EFO_0000555 irritable bowel syndrome 'irritable bowel syndrome' SubClassOf 'syndromic disease' 'irritable bowel syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0000557 juvenile dermatomyositis 'juvenile dermatomyositis' SubClassOf 'dermatomyositis' 'juvenile dermatomyositis' SubClassOf 'dermatomyositis' http://www.ebi.ac.uk/efo/EFO_0000559 keratinizing squamous cell carcinoma 'keratinizing squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' 'keratinizing squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' http://www.orpha.net/ORDO/Orphanet_263355 ATR-X-related syndrome 'ATR-X-related syndrome' SubClassOf 'congenital nervous system disorder' 'ATR-X-related syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'ATR-X-related syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'ATR-X-related syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_251359 Sickle cell - beta-thalassemia disease 'Sickle cell - beta-thalassemia disease' SubClassOf 'Sickle cell disease associated with an other hemoglobin anomaly' 'Sickle cell - beta-thalassemia disease' SubClassOf 'Sickle cell disease associated with an other hemoglobin anomaly' http://www.orpha.net/ORDO/Orphanet_251375 Sickle cell - hemoglobin E disease 'Sickle cell - hemoglobin E disease' SubClassOf 'Sickle cell disease associated with an other hemoglobin anomaly' 'Sickle cell - hemoglobin E disease' SubClassOf 'Sickle cell disease associated with an other hemoglobin anomaly' http://www.orpha.net/ORDO/Orphanet_251370 Sickle cell - hemoglobin D disease 'Sickle cell - hemoglobin D disease' SubClassOf 'Sickle cell disease associated with an other hemoglobin anomaly' 'Sickle cell - hemoglobin D disease' SubClassOf 'Sickle cell disease associated with an other hemoglobin anomaly' http://www.ebi.ac.uk/efo/EFO_0000549 insulinoma 'insulinoma' SubClassOf 'pancreatic neuroendocrine tumor' 'insulinoma' SubClassOf 'pancreatic neuroendocrine tumor' http://purl.obolibrary.org/obo/HP_0004552 Scarring alopecia of scalp 'Scarring alopecia of scalp' SubClassOf 'genetic alopecia' http://www.orpha.net/ORDO/Orphanet_263347 MRCS syndrome 'MRCS syndrome' SubClassOf 'Syndromic cataract' 'MRCS syndrome' SubClassOf 'Retinal dystrophy' 'MRCS syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000571 lung adenocarcinoma 'lung adenocarcinoma' SubClassOf 'adenocarcinoma' 'lung adenocarcinoma' SubClassOf 'adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0000574 lymphoma 'lymphoma' SubClassOf 'Genetic tumor of hematopoietic and lymphoid tissues' http://www.ebi.ac.uk/efo/EFO_0000563 large cell neuroendocrine carcinoma 'large cell neuroendocrine carcinoma' SubClassOf 'neuroendocrine carcinoma' 'large cell neuroendocrine carcinoma' SubClassOf 'neuroendocrine carcinoma' http://purl.obolibrary.org/obo/MONDO_0011837 vitamin K-dependent clotting factors, combined deficiency of, type 2 'vitamin K-dependent clotting factors, combined deficiency of, type 2' SubClassOf 'Congenital vitamin K-dependent coagulation factors deficiency' 'vitamin K-dependent clotting factors, combined deficiency of, type 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015722 http://purl.obolibrary.org/obo/MONDO_0011831 arrhythmogenic right ventricular dysplasia 8 'arrhythmogenic right ventricular dysplasia 8' SubClassOf 'Familial isolated arrhythmogenic right ventricular dysplasia' 'arrhythmogenic right ventricular dysplasia 8' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016342 http://purl.obolibrary.org/obo/MONDO_0011842 Grn-related frontotemporal lobar degeneration with Tdp43 inclusions 'Grn-related frontotemporal lobar degeneration with Tdp43 inclusions' SubClassOf 'Frontotemporal dementia' 'Grn-related frontotemporal lobar degeneration with Tdp43 inclusions' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017276 http://www.orpha.net/ORDO/Orphanet_289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 'Vitamin B12-unresponsive methylmalonic acidemia type mut0' SubClassOf 'Vitamin B12-unresponsive methylmalonic acidemia' 'Vitamin B12-unresponsive methylmalonic acidemia type mut0' SubClassOf 'methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency' 'Vitamin B12-unresponsive methylmalonic acidemia type mut0' SubClassOf 'methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency' http://www.ebi.ac.uk/efo/EFO_0000499 follicular thyroid adenoma 'follicular thyroid adenoma' SubClassOf 'thyroid adenoma' 'follicular thyroid adenoma' SubClassOf 'thyroid adenoma' http://purl.obolibrary.org/obo/MONDO_0008210 patterned macular dystrophy 1 'patterned macular dystrophy 1' SubClassOf 'Butterfly-shaped pigment dystrophy' 'patterned macular dystrophy 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020381 http://www.ebi.ac.uk/efo/EFO_0000489 extra-adrenal sympathetic paraganglioma 'extra-adrenal sympathetic paraganglioma' SubClassOf 'sympathetic paraganglioma' 'extra-adrenal sympathetic paraganglioma' SubClassOf 'sympathetic paraganglioma' http://purl.obolibrary.org/obo/MONDO_0021206 chronic non-suppurative otitis media 'chronic non-suppurative otitis media' SubClassOf 'non-suppurative otitis media' 'chronic non-suppurative otitis media' SubClassOf 'non-suppurative otitis media' http://purl.obolibrary.org/obo/MONDO_0021208 endocrine alopecia 'endocrine alopecia' SubClassOf 'Alopecia' 'endocrine alopecia' SubClassOf 'genetic alopecia' 'endocrine alopecia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004907 http://www.orpha.net/ORDO/Orphanet_238329 Severe X-linked mitochondrial encephalomyopathy 'Severe X-linked mitochondrial encephalomyopathy' SubClassOf 'Neurometabolic disease' 'Severe X-linked mitochondrial encephalomyopathy' SubClassOf 'combined oxidative phosphorylation deficiency' 'Severe X-linked mitochondrial encephalomyopathy' SubClassOf 'Neurometabolic disease' http://www.orpha.net/ORDO/Orphanet_1460 Isolated CoQ-cytochrome C reductase deficiency 'Isolated CoQ-cytochrome C reductase deficiency' SubClassOf 'mitochondrial complex deficiency' 'Isolated CoQ-cytochrome C reductase deficiency' SubClassOf 'Isolated oxidative phosphorylation complex disorder' 'Isolated CoQ-cytochrome C reductase deficiency' SubClassOf 'Isolated oxidative phosphorylation complex disorder' http://www.orpha.net/ORDO/Orphanet_251347 Ataxia-telangiectasia-like disorder 'Ataxia-telangiectasia-like disorder' SubClassOf 'inherited nervous system cancer-predisposing syndrome' 'Ataxia-telangiectasia-like disorder' SubClassOf 'genetic skin disease' 'Ataxia-telangiectasia-like disorder' SubClassOf 'neurovascular disorder' 'Ataxia-telangiectasia-like disorder' SubClassOf 'skin vascular disease' http://www.orpha.net/ORDO/Orphanet_1466 COFS syndrome 'COFS syndrome' SubClassOf 'Cockayne syndrome' 'COFS syndrome' SubClassOf 'Syndromic microphthalmia' 'COFS syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1465 Coffin-Siris syndrome 'Coffin-Siris syndrome' SubClassOf 'congenital nervous system disorder' 'Coffin-Siris syndrome' SubClassOf 'congenital limb malformation' 'Coffin-Siris syndrome' SubClassOf 'syndromic intellectual disability' 'Coffin-Siris syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Coffin-Siris syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Coffin-Siris syndrome' SubClassOf 'Syndrome with brachydactyly' 'Coffin-Siris syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0011895 idiopathic hypereosinophilic syndrome 'idiopathic hypereosinophilic syndrome' SubClassOf 'Hypereosinophilic syndrome' 'idiopathic hypereosinophilic syndrome' SubClassOf 'Hypereosinophilic syndrome' http://www.orpha.net/ORDO/Orphanet_1473 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 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Uveal coloboma - cleft lip and palate - intellectual disability' SubClassOf 'congenital nervous system disorder' 'Uveal coloboma - cleft lip and palate - intellectual disability' SubClassOf 'Orofacial clefting syndrome' 'Uveal coloboma - cleft lip and palate - intellectual disability' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Uveal coloboma - cleft lip and palate - intellectual disability' SubClassOf 'Orofacial clefting syndrome' http://www.orpha.net/ORDO/Orphanet_1471 Coloboma of macula - brachydactyly type B 'Coloboma of macula - brachydactyly type B' SubClassOf 'Genetic macular dystrophy' 'Coloboma of macula - brachydactyly type B' SubClassOf 'Colobomatous and areolar dystrophy' 'Coloboma of macula - brachydactyly type B' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019118 http://www.orpha.net/ORDO/Orphanet_251355 Sickle cell disease associated with an other hemoglobin anomaly 'Sickle cell disease associated with an other hemoglobin anomaly' SubClassOf 'Sickle cell disease and related diseases' 'Sickle cell disease associated with an other hemoglobin anomaly' SubClassOf 'Sickle cell disease and related diseases' http://www.orpha.net/ORDO/Orphanet_1479 Atrial septal defect - atrioventricular conduction defects 'Atrial septal defect - atrioventricular conduction defects' SubClassOf 'atrial heart septal defect' 'Atrial septal defect - atrioventricular conduction defects' SubClassOf 'Genetic cardiac rhythm disease' 'Atrial septal defect - atrioventricular conduction defects' SubClassOf 'Genetic cardiac rhythm disease' http://www.orpha.net/ORDO/Orphanet_1478 Interauricular communication 'Interauricular communication' SubClassOf 'Genetic cardiac anomaly' 'Interauricular communication' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1475 Renal coloboma syndrome 'Renal coloboma syndrome' SubClassOf 'Rare eye disease due to a differentiation anomaly' 'Renal coloboma syndrome' SubClassOf 'Genetic developmental defect of the eye' 'Renal coloboma syndrome' SubClassOf 'autosomal dominant disease' 'Renal coloboma syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Renal coloboma syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'Renal coloboma syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020145 'Renal coloboma syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' http://www.orpha.net/ORDO/Orphanet_35909 Combined deficiency of factor V and factor VIII 'Combined deficiency of factor V and factor VIII' SubClassOf 'coagulation protein disease' 'Combined deficiency of factor V and factor VIII' SubClassOf 'hemorrhagic disease' http://www.orpha.net/ORDO/Orphanet_1484 Contractures - ectodermal dysplasia - cleft lip/palate 'Contractures - ectodermal dysplasia - cleft lip/palate' SubClassOf 'Ectodermal dysplasia syndrome' 'Contractures - ectodermal dysplasia - cleft lip/palate' SubClassOf 'Orofacial clefting syndrome' 'Contractures - ectodermal dysplasia - cleft lip/palate' SubClassOf 'syndromic intellectual disability' 'Contractures - ectodermal dysplasia - cleft lip/palate' SubClassOf 'Ectodermal dysplasia syndrome' 'Contractures - ectodermal dysplasia - cleft lip/palate' SubClassOf 'Orofacial clefting syndrome' http://www.orpha.net/ORDO/Orphanet_1485 Arthrogryposis - hyperkeratosis, lethal form 'Arthrogryposis - hyperkeratosis, lethal form' SubClassOf 'Arthrogryposis multiplex congenita' 'Arthrogryposis - hyperkeratosis, lethal form' SubClassOf 'Arthrogryposis multiplex congenita' http://www.orpha.net/ORDO/Orphanet_1480 Ventricular septal defect 'Ventricular septal defect' SubClassOf 'heart septal defect' 'Ventricular septal defect' SubClassOf 'heart disease' http://www.orpha.net/ORDO/Orphanet_1488 Cooper-Jabs syndrome 'Cooper-Jabs syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Cooper-Jabs syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1486 Lethal congenital contracture syndrome type 1 'Lethal congenital contracture syndrome type 1' SubClassOf 'thoracic malformation' 'Lethal congenital contracture syndrome type 1' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Lethal congenital contracture syndrome type 1' SubClassOf 'syndromic respiratory or mediastinal malformation' 'Lethal congenital contracture syndrome type 1' SubClassOf 'Lethal congenital contracture syndrome' 'Lethal congenital contracture syndrome type 1' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Lethal congenital contracture syndrome type 1' SubClassOf 'Lethal congenital contracture syndrome' http://www.orpha.net/ORDO/Orphanet_1487 Cooks syndrome 'Cooks syndrome' SubClassOf 'Syndrome with brachydactyly' 'Cooks syndrome' SubClassOf 'Syndromic nail anomaly' 'Cooks syndrome' SubClassOf 'congenital limb malformation' 'Cooks syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0021248 nervous system neoplasm 'nervous system neoplasm' SubClassOf 'neoplasm' 'nervous system neoplasm' SubClassOf 'neoplasm' http://www.orpha.net/ORDO/Orphanet_289902 3-methylglutaconic aciduria '3-methylglutaconic aciduria' SubClassOf 'Classic organic aciduria' '3-methylglutaconic aciduria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1495 Intellectual disability - hypoplastic corpus callosum - preauricular tag 'Intellectual disability - hypoplastic corpus callosum - preauricular tag' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Intellectual disability - hypoplastic corpus callosum - preauricular tag' SubClassOf 'congenital nervous system disorder' 'Intellectual disability - hypoplastic corpus callosum - preauricular tag' SubClassOf 'syndromic intellectual disability' 'Intellectual disability - hypoplastic corpus callosum - preauricular tag' SubClassOf 'Rare genetic neurological disorder' 'Intellectual disability - hypoplastic corpus callosum - preauricular tag' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_1496 Corpus callosum agenesis - neuronopathy 'Corpus callosum agenesis - neuronopathy' SubClassOf 'Bulbospinal muscular atrophy' 'Corpus callosum agenesis - neuronopathy' SubClassOf 'disorder of development or morphogenesis' http://www.orpha.net/ORDO/Orphanet_1493 Vici syndrome 'Vici syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Vici syndrome' SubClassOf 'Combined T and B cell immunodeficiency' 'Vici syndrome' SubClassOf 'autosomal recessive disease' 'Vici syndrome' SubClassOf 'Genetic hypopigmentation of the skin' 'Vici syndrome' SubClassOf 'congenital nervous system disorder' 'Vici syndrome' SubClassOf 'Rare genetic neurological disorder' 'Vici syndrome' SubClassOf 'Syndromic cataract' 'Vici syndrome' SubClassOf 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' 'Vici syndrome' SubClassOf 'Syndrome associated with dilated cardiomyopathy' 'Vici syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1490 Corneal dystrophy - perceptive deafness 'Corneal dystrophy - perceptive deafness' SubClassOf 'Syndromic corneal dystrophy' 'Corneal dystrophy - perceptive deafness' SubClassOf 'Syndromic genetic deafness' 'Corneal dystrophy - perceptive deafness' SubClassOf 'Syndromic corneal dystrophy' 'Corneal dystrophy - perceptive deafness' SubClassOf 'Syndromic genetic deafness' http://purl.obolibrary.org/obo/MONDO_0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 'juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome' SubClassOf 'Genetic intestinal polyposis' 'juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018188 http://www.orpha.net/ORDO/Orphanet_1497 X-linked complicated corpus callosum dysgenesis 'X-linked complicated corpus callosum dysgenesis' SubClassOf 'L1 syndrome' 'X-linked complicated corpus callosum dysgenesis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000062 lactose intolerance 'lactose intolerance' SubClassOf 'Disorder of carbohydrate metabolism' 'lactose intolerance' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019214 http://www.orpha.net/ORDO/Orphanet_1426 Greenberg dysplasia 'Greenberg dysplasia' SubClassOf 'Sterol biosynthesis disorder' 'Greenberg dysplasia' SubClassOf 'Chondrodysplasia punctata' 'Greenberg dysplasia' SubClassOf 'laminopathy' 'Greenberg dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1427 Otospondylomegaepiphyseal dysplasia 'Otospondylomegaepiphyseal dysplasia' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Otospondylomegaepiphyseal dysplasia' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0008289 brain small vessel disease 1 with or without ocular anomalies 'brain small vessel disease 1 with or without ocular anomalies' SubClassOf 'Familial porencephaly' 'brain small vessel disease 1 with or without ocular anomalies' SubClassOf 'Porencephaly' 'brain small vessel disease 1 with or without ocular anomalies' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020496 http://www.orpha.net/ORDO/Orphanet_1425 Desbuquois syndrome 'Desbuquois syndrome' SubClassOf 'osteochondrodysplasia' 'Desbuquois syndrome' SubClassOf 'developmental defect during embryogenesis' http://www.ebi.ac.uk/efo/EFO_1000066 ACTH-Producing Pituitary Gland Adenoma 'ACTH-Producing Pituitary Gland Adenoma' SubClassOf 'Pituitary Gland Adenoma' 'ACTH-Producing Pituitary Gland Adenoma' SubClassOf 'Pituitary Gland Adenoma' http://www.orpha.net/ORDO/Orphanet_1422 Chondrodysplasia - disorder of sex development 'Chondrodysplasia - disorder of sex development' SubClassOf 'syndromic disease' 'Chondrodysplasia - disorder of sex development' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_1423 Lethal recessive chondrodysplasia 'Lethal recessive chondrodysplasia' SubClassOf 'Lethal chondrodysplasia' 'Lethal recessive chondrodysplasia' SubClassOf 'chondrodysplasia' 'Lethal recessive chondrodysplasia' SubClassOf 'Lethal chondrodysplasia' http://www.orpha.net/ORDO/Orphanet_1420 Lethal chondrodysplasia, Moerman type 'Lethal chondrodysplasia, Moerman type' SubClassOf 'Lethal chondrodysplasia' 'Lethal chondrodysplasia, Moerman type' SubClassOf 'Lethal chondrodysplasia' http://www.ebi.ac.uk/efo/EFO_1000065 Acinar Prostate Mucinous Adenocarcinoma 'Acinar Prostate Mucinous Adenocarcinoma' SubClassOf 'mucinous carcinoma' 'Acinar Prostate Mucinous Adenocarcinoma' SubClassOf 'mucinous carcinoma' http://www.orpha.net/ORDO/Orphanet_1421 Lethal chondrodysplasia, Seller type 'Lethal chondrodysplasia, Seller type' SubClassOf 'Lethal chondrodysplasia' 'Lethal chondrodysplasia, Seller type' SubClassOf 'Lethal chondrodysplasia' http://purl.obolibrary.org/obo/MONDO_0008295 sporadic porphyria cutanea tarda 'sporadic porphyria cutanea tarda' SubClassOf 'Familial porphyria cutanea tarda' 'sporadic porphyria cutanea tarda' EquivalentTo 'Porphyria cutanea tarda' and ('has modifier' some 'acquired') 'sporadic porphyria cutanea tarda' SubClassOf 'acquired peripheral neuropathy' 'sporadic porphyria cutanea tarda' SubClassOf 'Porphyria cutanea tarda' 'sporadic porphyria cutanea tarda' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015104 'sporadic porphyria cutanea tarda' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0015104 and ('has modifier' some 'acquired') http://www.orpha.net/ORDO/Orphanet_324737 SRD5A3-CDG 'SRD5A3-CDG' SubClassOf 'Disorder of multiple glycosylation' 'SRD5A3-CDG' SubClassOf 'Developmental anomaly of metabolic origin' 'SRD5A3-CDG' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'SRD5A3-CDG' SubClassOf 'congenital disorder of glycosylation type I' 'SRD5A3-CDG' SubClassOf 'Genetic developmental defect of the eye' 'SRD5A3-CDG' SubClassOf 'genetic skin disease' 'SRD5A3-CDG' SubClassOf 'congenital nervous system disorder' 'SRD5A3-CDG' SubClassOf 'Congenital disorder of glycosylation with skin involvement' 'SRD5A3-CDG' SubClassOf 'Rare eye disease due to a differentiation anomaly' 'SRD5A3-CDG' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_371040 Primary qualitative or quantitative defects of alpha-dystroglycan 'Primary qualitative or quantitative defects of alpha-dystroglycan' SubClassOf 'Qualitative or quantitative defects of alpha-dystroglycan' 'Primary qualitative or quantitative defects of alpha-dystroglycan' SubClassOf 'Qualitative or quantitative defects of alpha-dystroglycan' http://www.ebi.ac.uk/efo/EFO_1000073 Adenosquamous Carcinoma 'Adenosquamous Carcinoma' SubClassOf 'squamous cell carcinoma' 'Adenosquamous Carcinoma' SubClassOf 'squamous cell carcinoma' http://www.ebi.ac.uk/efo/EFO_1000071 Adenoid Cystic Breast Carcinoma 'Adenoid Cystic Breast Carcinoma' SubClassOf 'adenoid cystic carcinoma' 'Adenoid Cystic Breast Carcinoma' SubClassOf 'adenoid cystic carcinoma' http://www.orpha.net/ORDO/Orphanet_324718 Hereditary cerebral hemorrhage with amyloidosis, Flemish type 'Hereditary cerebral hemorrhage with amyloidosis, Flemish type' SubClassOf 'cerebral amyloid angiopathy, APP-related' http://www.orpha.net/ORDO/Orphanet_1437 Ring chromosome 1 'Ring chromosome 1' SubClassOf 'ring chromosome disorder' 'Ring chromosome 1' SubClassOf 'Ring chromosome' 'Ring chromosome 1' SubClassOf 'chromosome 1 disorder' 'Ring chromosome 1' SubClassOf 'Ring chromosome' http://www.orpha.net/ORDO/Orphanet_1438 Ring chromosome 10 'Ring chromosome 10' SubClassOf 'Ring chromosome' 'Ring chromosome 10' SubClassOf 'syndromic intellectual disability' 'Ring chromosome 10' SubClassOf 'Rare genetic neurological disorder' 'Ring chromosome 10' SubClassOf 'chromosome 10 disorder' 'Ring chromosome 10' SubClassOf 'ring chromosome disorder' 'Ring chromosome 10' SubClassOf 'Ring chromosome' http://www.ebi.ac.uk/efo/EFO_1000079 Ampulla of Vater Carcinoma 'Ampulla of Vater Carcinoma' SubClassOf 'ampulla of vater cancer' 'Ampulla of Vater Carcinoma' SubClassOf 'ampulla of vater cancer' http://www.orpha.net/ORDO/Orphanet_1435 Choroideremia - deafness - obesity 'Choroideremia - deafness - obesity' SubClassOf 'Syndromic genetic deafness' 'Choroideremia - deafness - obesity' SubClassOf 'Syndromic obesity' 'Choroideremia - deafness - obesity' SubClassOf 'Retinal dystrophy' 'Choroideremia - deafness - obesity' SubClassOf 'Syndromic genetic deafness' 'Choroideremia - deafness - obesity' SubClassOf 'Syndromic obesity' http://www.orpha.net/ORDO/Orphanet_1436 Skeletal dysplasia - intellectual disability 'Skeletal dysplasia - intellectual disability' SubClassOf 'Syndromic anorectal malformation' 'Skeletal dysplasia - intellectual disability' SubClassOf 'Spondylodysplastic dysplasia' 'Skeletal dysplasia - intellectual disability' SubClassOf 'X-linked syndromic intellectual disability' 'Skeletal dysplasia - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 'Skeletal dysplasia - intellectual disability' SubClassOf 'Syndromic anorectal malformation' 'Skeletal dysplasia - intellectual disability' SubClassOf 'Spondylodysplastic dysplasia' http://www.ebi.ac.uk/efo/EFO_1000077 AIDS-Related Primary Central Nervous System Lymphoma 'AIDS-Related Primary Central Nervous System Lymphoma' SubClassOf 'Rare genetic neurological disorder' 'AIDS-Related Primary Central Nervous System Lymphoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.orpha.net/ORDO/Orphanet_1433 Choroidal atrophy - alopecia 'Choroidal atrophy - alopecia' SubClassOf 'Ectodermal dysplasia syndrome' 'Choroidal atrophy - alopecia' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_1434 Choroideremia - hypopituitarism 'Choroideremia - hypopituitarism' SubClassOf 'Retinal dystrophy' http://www.orpha.net/ORDO/Orphanet_1431 Paroxysmal dyskinesia 'Paroxysmal dyskinesia' SubClassOf 'Paroxysmal dystonia' 'Paroxysmal dyskinesia' SubClassOf 'Paroxysmal dystonia' http://www.orpha.net/ORDO/Orphanet_397685 Familial hyperprolactinemia 'Familial hyperprolactinemia' SubClassOf 'Rare genetic neurological disorder' 'Familial hyperprolactinemia' SubClassOf 'Inborn errors of metabolism' 'Familial hyperprolactinemia' SubClassOf 'female infertility' 'Familial hyperprolactinemia' SubClassOf 'hyperprolactinemia' 'Familial hyperprolactinemia' SubClassOf 'male infertility' 'Familial hyperprolactinemia' EquivalentTo 'hyperprolactinemia' and ('has modifier' some 'inherited') http://www.orpha.net/ORDO/Orphanet_1428 Familial chondromalacia patellae 'Familial chondromalacia patellae' SubClassOf 'Patellar dysostosis' 'Familial chondromalacia patellae' SubClassOf 'chondromalacia' 'Familial chondromalacia patellae' SubClassOf 'limb disorder' 'Familial chondromalacia patellae' SubClassOf 'Patellar dysostosis' http://www.orpha.net/ORDO/Orphanet_1429 Benign familial chorea 'Benign familial chorea' SubClassOf 'chorea' 'Benign familial chorea' SubClassOf 'Huntington disease-like syndrome' 'Benign familial chorea' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015548 http://www.orpha.net/ORDO/Orphanet_309108 Pancreatic colipase deficiency 'Pancreatic colipase deficiency' SubClassOf 'Pancreatic triacylglycerol lipase deficiency' 'Pancreatic colipase deficiency' SubClassOf 'Disorder of lipid absorption and transport' http://www.orpha.net/ORDO/Orphanet_324723 Hereditary cerebral hemorrhage with amyloidosis, Arctic type 'Hereditary cerebral hemorrhage with amyloidosis, Arctic type' SubClassOf 'cerebral amyloid angiopathy, APP-related' http://www.orpha.net/ORDO/Orphanet_1440 Ring chromosome 14 'Ring chromosome 14' SubClassOf 'Ring chromosome' 'Ring chromosome 14' SubClassOf 'chromosome 14 disorder' 'Ring chromosome 14' SubClassOf 'epilepsy' 'Ring chromosome 14' SubClassOf 'Rare genetic neurological disorder' 'Ring chromosome 14' SubClassOf 'ring chromosome disorder' 'Ring chromosome 14' SubClassOf 'Ring chromosome' http://www.ebi.ac.uk/efo/EFO_1000085 Angiolipoma 'Angiolipoma' SubClassOf 'lipoma' 'Angiolipoma' SubClassOf 'lipoma' http://www.orpha.net/ORDO/Orphanet_1441 Ring chromosome 17 'Ring chromosome 17' SubClassOf 'ring chromosome disorder' 'Ring chromosome 17' SubClassOf 'chromosome 17 disorder' 'Ring chromosome 17' SubClassOf 'Ring chromosome' 'Ring chromosome 17' SubClassOf 'Ring chromosome' http://www.orpha.net/ORDO/Orphanet_35981 Polymicrogyria 'Polymicrogyria' SubClassOf 'syndromic intellectual disability' 'Polymicrogyria' SubClassOf 'has modifier' some 'rare' 'Polymicrogyria' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_324708 Hereditary cerebral hemorrhage with amyloidosis, Iowa type 'Hereditary cerebral hemorrhage with amyloidosis, Iowa type' SubClassOf 'cerebral amyloid angiopathy, APP-related' http://purl.obolibrary.org/obo/MONDO_0021289 carcinoma in situ of cecum 'carcinoma in situ of cecum' SubClassOf 'cecum carcinoma' 'carcinoma in situ of cecum' SubClassOf 'cecum carcinoma' http://www.ebi.ac.uk/efo/EFO_1000081 Anal Squamous Cell Carcinoma 'Anal Squamous Cell Carcinoma' SubClassOf 'anal carcinoma' 'Anal Squamous Cell Carcinoma' SubClassOf 'anal carcinoma' http://www.orpha.net/ORDO/Orphanet_1448 Ring chromosome 6 'Ring chromosome 6' SubClassOf 'chromosome 6 disorder' 'Ring chromosome 6' SubClassOf 'Ring chromosome' 'Ring chromosome 6' SubClassOf 'ring chromosome disorder' 'Ring chromosome 6' SubClassOf 'Ring chromosome' http://www.orpha.net/ORDO/Orphanet_1449 Ring chromosome 7 'Ring chromosome 7' SubClassOf 'chromosome 7 disorder' 'Ring chromosome 7' SubClassOf 'ring chromosome disorder' 'Ring chromosome 7' SubClassOf 'Ring chromosome' 'Ring chromosome 7' SubClassOf 'Ring chromosome' http://www.orpha.net/ORDO/Orphanet_1446 Ring chromosome 22 'Ring chromosome 22' SubClassOf 'Ring chromosome' 'Ring chromosome 22' SubClassOf 'ring chromosome disorder' 'Ring chromosome 22' SubClassOf 'chromosome 22 disorder' 'Ring chromosome 22' SubClassOf 'Ring chromosome' http://www.orpha.net/ORDO/Orphanet_1447 Ring chromosome 4 'Ring chromosome 4' SubClassOf 'Ring chromosome' 'Ring chromosome 4' SubClassOf 'chromosome 4 disorder' 'Ring chromosome 4' SubClassOf 'ring chromosome disorder' 'Ring chromosome 4' SubClassOf 'Ring chromosome' http://www.ebi.ac.uk/efo/EFO_1000088 Appendix Adenocarcinoma 'Appendix Adenocarcinoma' SubClassOf 'appendix carcinoma' 'Appendix Adenocarcinoma' SubClassOf 'appendix carcinoma' http://www.orpha.net/ORDO/Orphanet_1444 Ring chromosome 20 'Ring chromosome 20' SubClassOf 'epilepsy' 'Ring chromosome 20' SubClassOf 'Ring chromosome' 'Ring chromosome 20' SubClassOf 'chromosome 20 disorder' 'Ring chromosome 20' SubClassOf 'Rare genetic neurological disorder' 'Ring chromosome 20' SubClassOf 'ring chromosome disorder' 'Ring chromosome 20' SubClassOf 'Ring chromosome' http://www.orpha.net/ORDO/Orphanet_1445 Ring chromosome 21 'Ring chromosome 21' SubClassOf 'chromosome 21 disorder' 'Ring chromosome 21' SubClassOf 'ring chromosome disorder' 'Ring chromosome 21' SubClassOf 'Ring chromosome' 'Ring chromosome 21' SubClassOf 'Ring chromosome' http://www.orpha.net/ORDO/Orphanet_1442 Ring chromosome 18 'Ring chromosome 18' SubClassOf 'Ring chromosome' 'Ring chromosome 18' SubClassOf 'chromosome 18 disorder' 'Ring chromosome 18' SubClassOf 'ring chromosome disorder' 'Ring chromosome 18' SubClassOf 'Ring chromosome' http://www.orpha.net/ORDO/Orphanet_1443 Ring chromosome 19 'Ring chromosome 19' SubClassOf 'Ring chromosome' 'Ring chromosome 19' SubClassOf 'chromosome 19 disorder' 'Ring chromosome 19' SubClassOf 'ring chromosome disorder' 'Ring chromosome 19' SubClassOf 'Ring chromosome' http://www.orpha.net/ORDO/Orphanet_1439 Ring chromosome 12 'Ring chromosome 12' SubClassOf 'Ring chromosome' 'Ring chromosome 12' SubClassOf 'ring chromosome disorder' 'Ring chromosome 12' SubClassOf 'chromosome 12 disorder' 'Ring chromosome 12' SubClassOf 'Ring chromosome' http://www.orpha.net/ORDO/Orphanet_324713 Hereditary cerebral hemorrhage with amyloidosis, Italian type 'Hereditary cerebral hemorrhage with amyloidosis, Italian type' SubClassOf 'cerebral amyloid angiopathy, APP-related' http://www.ebi.ac.uk/efo/EFO_1000095 Askin Tumor 'Askin Tumor' SubClassOf 'peripheral primitive neuroectodermal tumor' 'Askin Tumor' SubClassOf 'peripheral primitive neuroectodermal tumor' http://www.orpha.net/ORDO/Orphanet_1451 CINCA syndrome 'CINCA syndrome' SubClassOf 'Cryopyrin-associated periodic syndrome' 'CINCA syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1452 Cleidocranial dysplasia 'Cleidocranial dysplasia' SubClassOf 'osteochondrodysplasia' 'Cleidocranial dysplasia' SubClassOf 'cranial malformation' 'Cleidocranial dysplasia' SubClassOf 'Primary bone dysplasia' 'Cleidocranial dysplasia' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_1000094 Ascending Colon Neuroendocrine Tumor G1 'Ascending Colon Neuroendocrine Tumor G1' SubClassOf 'Colon Neuroendocrine Tumor G1' 'Ascending Colon Neuroendocrine Tumor G1' SubClassOf 'Colon Neuroendocrine Tumor G1' http://www.orpha.net/ORDO/Orphanet_1450 Ring chromosome 8 'Ring chromosome 8' SubClassOf 'Ring chromosome' 'Ring chromosome 8' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000091 Appendix Hyperplastic Polyp 'Appendix Hyperplastic Polyp' SubClassOf 'Hyperplastic Polyp' 'Appendix Hyperplastic Polyp' SubClassOf 'Hyperplastic Polyp' http://purl.obolibrary.org/obo/MONDO_0021279 mucoepidermoid carcinoma of submandibular gland 'mucoepidermoid carcinoma of submandibular gland' SubClassOf 'submandibular gland cancer' 'mucoepidermoid carcinoma of submandibular gland' SubClassOf 'submandibular gland cancer' http://www.ebi.ac.uk/efo/EFO_1000090 Appendix Goblet Cell Carcinoid 'Appendix Goblet Cell Carcinoid' SubClassOf 'combined carcinoid and adenocarcinoma' 'Appendix Goblet Cell Carcinoid' SubClassOf 'combined carcinoid and adenocarcinoma' http://www.orpha.net/ORDO/Orphanet_1458 CODAS syndrome 'CODAS syndrome' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'CODAS syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'CODAS syndrome' SubClassOf 'syndromic disease' 'CODAS syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0021271 villous adenoma of colon 'villous adenoma of colon' SubClassOf 'villous adenoma' 'villous adenoma of colon' SubClassOf 'villous adenoma' http://www.ebi.ac.uk/efo/EFO_1000097 Atypical Carcinoid Tumor 'Atypical Carcinoid Tumor' SubClassOf 'carcinoid tumor' 'Atypical Carcinoid Tumor' SubClassOf 'carcinoid tumor' http://www.orpha.net/ORDO/Orphanet_1453 Cleidorhizomelic syndrome 'Cleidorhizomelic syndrome' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' 'Cleidorhizomelic syndrome' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' http://purl.obolibrary.org/obo/MONDO_0021272 inherited orthostatic hypotension 'inherited orthostatic hypotension' SubClassOf 'Rare genetic neurological disorder' 'inherited orthostatic hypotension' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.orpha.net/ORDO/Orphanet_1454 Joubert syndrome with hepatic defect 'Joubert syndrome with hepatic defect' SubClassOf 'Genetic parenchymatous liver disease' 'Joubert syndrome with hepatic defect' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Joubert syndrome with hepatic defect' SubClassOf 'Joubert syndrome and related disorders' 'Joubert syndrome with hepatic defect' SubClassOf 'COACH syndrome' 'Joubert syndrome with hepatic defect' SubClassOf 'disorder of development or morphogenesis' 'Joubert syndrome with hepatic defect' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015369 http://www.orpha.net/ORDO/Orphanet_300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation 'Familial dilated cardiomyopathy with conduction defect due to LMNA mutation' SubClassOf 'Familial isolated dilated cardiomyopathy' 'Familial dilated cardiomyopathy with conduction defect due to LMNA mutation' SubClassOf 'disease has feature' some 'cardiomyopathy' 'Familial dilated cardiomyopathy with conduction defect due to LMNA mutation' SubClassOf 'syndromic disease' 'Familial dilated cardiomyopathy with conduction defect due to LMNA mutation' SubClassOf 'Familial dilated cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_324703 Hereditary cerebral hemorrhage with amyloidosis, Piedmont type 'Hereditary cerebral hemorrhage with amyloidosis, Piedmont type' SubClassOf 'cerebral amyloid angiopathy, APP-related' http://www.orpha.net/ORDO/Orphanet_226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function 'Hypothyroidism due to deficient transcription factors involved in pituitary development or function' SubClassOf 'Central congenital hypothyroidism' 'Hypothyroidism due to deficient transcription factors involved in pituitary development or function' SubClassOf 'Central congenital hypothyroidism' http://www.orpha.net/ORDO/Orphanet_216981 Niemann-Pick disease type C, juvenile neurologic onset 'Niemann-Pick disease type C, juvenile neurologic onset' SubClassOf 'Niemann-Pick disease type C' 'Niemann-Pick disease type C, juvenile neurologic onset' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_216986 Niemann-Pick disease type C, adult neurologic onset 'Niemann-Pick disease type C, adult neurologic onset' SubClassOf 'Niemann-Pick disease type C' 'Niemann-Pick disease type C, adult neurologic onset' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_216975 Niemann-Pick disease type C, severe early infantile neurologic onset 'Niemann-Pick disease type C, severe early infantile neurologic onset' SubClassOf 'Niemann-Pick disease type C' 'Niemann-Pick disease type C, severe early infantile neurologic onset' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_216972 Niemann-Pick disease type C, severe perinatal form 'Niemann-Pick disease type C, severe perinatal form' SubClassOf 'perinatal disease' 'Niemann-Pick disease type C, severe perinatal form' SubClassOf 'Niemann-Pick disease type C' 'Niemann-Pick disease type C, severe perinatal form' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_216978 Niemann-Pick disease type C, late infantile neurologic onset 'Niemann-Pick disease type C, late infantile neurologic onset' SubClassOf 'Niemann-Pick disease type C' 'Niemann-Pick disease type C, late infantile neurologic onset' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_33364 Trichothiodystrophy 'Trichothiodystrophy' SubClassOf 'Autosomal ichthyosis syndrome' 'Trichothiodystrophy' SubClassOf 'male infertility' 'Trichothiodystrophy' SubClassOf 'Ectodermal dysplasia syndrome' 'Trichothiodystrophy' SubClassOf 'Syndromic hair shaft abnormality' 'Trichothiodystrophy' SubClassOf 'Ectodermal dysplasia syndrome' 'Trichothiodystrophy' SubClassOf 'Syndromic hair shaft abnormality' http://www.orpha.net/ORDO/Orphanet_397695 3q27.3 microdeletion syndrome '3q27.3 microdeletion syndrome' SubClassOf 'congenital nervous system disorder' '3q27.3 microdeletion syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '3q27.3 microdeletion syndrome' SubClassOf 'syndromic intellectual disability' '3q27.3 microdeletion syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' '3q27.3 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 3' '3q27.3 microdeletion syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_397692 Hereditary isolated aplastic anemia 'Hereditary isolated aplastic anemia' SubClassOf 'inherited aplastic anemia' http://www.orpha.net/ORDO/Orphanet_226310 Peripheral hypothyroidism 'Peripheral hypothyroidism' SubClassOf 'Permanent congenital hypothyroidism' 'Peripheral hypothyroidism' SubClassOf 'Permanent congenital hypothyroidism' http://www.orpha.net/ORDO/Orphanet_226316 Genetic transient congenital hypothyroidism 'Genetic transient congenital hypothyroidism' SubClassOf 'transient congenital hypothyroidism due to neonatal factor' 'Genetic transient congenital hypothyroidism' EquivalentTo 'transient congenital hypothyroidism' and ('has modifier' some 'inherited') http://www.orpha.net/ORDO/Orphanet_33355 Reticular dysgenesis 'Reticular dysgenesis' SubClassOf 'T-B- severe combined immunodeficiency' 'Reticular dysgenesis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017855 http://www.orpha.net/ORDO/Orphanet_1414 Cholestasis-lymphedema syndrome 'Cholestasis-lymphedema syndrome' SubClassOf 'Syndromic lymphedema' 'Cholestasis-lymphedema syndrome' SubClassOf 'Primary lymphedema' 'Cholestasis-lymphedema syndrome' SubClassOf 'liver disease' 'Cholestasis-lymphedema syndrome' SubClassOf 'has modifier' some 'rare' 'Cholestasis-lymphedema syndrome' SubClassOf 'Milroy disease' 'Cholestasis-lymphedema syndrome' SubClassOf 'Syndromic lymphedema' 'Cholestasis-lymphedema syndrome' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_1412 Tarsal-carpal coalition syndrome 'Tarsal-carpal coalition syndrome' SubClassOf 'autosomal dominant disease' 'Tarsal-carpal coalition syndrome' SubClassOf 'congenital limb malformation' http://www.orpha.net/ORDO/Orphanet_1410 Uncombable hair syndrome 'Uncombable hair syndrome' SubClassOf 'Isolated hair shaft abnormality' 'Uncombable hair syndrome' SubClassOf 'Isolated hair shaft abnormality' http://www.orpha.net/ORDO/Orphanet_1408 Hair defect - photosensitivity - intellectual disability 'Hair defect - photosensitivity - intellectual disability' SubClassOf 'Syndromic hair shaft abnormality' 'Hair defect - photosensitivity - intellectual disability' SubClassOf 'syndromic intellectual disability' 'Hair defect - photosensitivity - intellectual disability' SubClassOf 'Syndromic hair shaft abnormality' http://www.orpha.net/ORDO/Orphanet_1409 Woolly hair - hypotrichosis - everted lower lip - outstanding ears 'Woolly hair - hypotrichosis - everted lower lip - outstanding ears' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_1406 Charlie M syndrome 'Charlie M syndrome' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Charlie M syndrome' SubClassOf 'Oromandibular-limb hypogenesis syndrome' 'Charlie M syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Charlie M syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_86909 Myoclonic epilepsy of infancy 'Myoclonic epilepsy of infancy' SubClassOf 'neonatal/infantile epilepsy syndrome' http://www.orpha.net/ORDO/Orphanet_86906 Hypothalamic hamartomas with gelastic seizures 'Hypothalamic hamartomas with gelastic seizures' SubClassOf 'cerebral malformation' http://www.orpha.net/ORDO/Orphanet_98908 Neutral lipid storage myopathy 'Neutral lipid storage myopathy' SubClassOf 'Neutral lipid storage disease' 'Neutral lipid storage myopathy' SubClassOf 'Neutral lipid storage disease' http://www.orpha.net/ORDO/Orphanet_98907 Dorfman-Chanarin disease 'Dorfman-Chanarin disease' SubClassOf 'Syndromic ichthyosis associated with ocular features' 'Dorfman-Chanarin disease' SubClassOf 'Neutral lipid storage disease' 'Dorfman-Chanarin disease' SubClassOf 'Rare syndromic dyslipidemia' 'Dorfman-Chanarin disease' SubClassOf 'Autosomal ichthyosis syndrome with other associated signs' 'Dorfman-Chanarin disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98909 Desminopathy 'Desminopathy' SubClassOf 'Qualitative or quantitative defects of desmin' 'Desminopathy' SubClassOf 'Autosomal dominant distal myopathy' 'Desminopathy' SubClassOf 'Familial restrictive cardiomyopathy' 'Desminopathy' SubClassOf 'Inclusion myopathy' 'Desminopathy' SubClassOf 'Myofibrillar myopathy' 'Desminopathy' SubClassOf 'Autosomal dominant distal myopathy' 'Desminopathy' SubClassOf 'Qualitative or quantitative defects of desmin' 'Desminopathy' SubClassOf 'Familial restrictive cardiomyopathy' 'Desminopathy' SubClassOf 'Inclusion myopathy' 'Desminopathy' SubClassOf 'Myofibrillar myopathy' http://www.orpha.net/ORDO/Orphanet_59303 Ichthyosis - hypotrichosis - sclerosing cholangitis 'Ichthyosis - hypotrichosis - sclerosing cholangitis' SubClassOf 'Genetic biliary tract disease' 'Ichthyosis - hypotrichosis - sclerosing cholangitis' SubClassOf 'Autosomal ichthyosis syndrome with prominent hair abnormalities' 'Ichthyosis - hypotrichosis - sclerosing cholangitis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_59305 Gestational trophoblastic neoplasm 'Gestational trophoblastic neoplasm' SubClassOf 'trophoblastic neoplasm' 'Gestational trophoblastic neoplasm' EquivalentTo 'trophoblastic neoplasm' and 'gestational trophoblastic disease' 'Gestational trophoblastic neoplasm' SubClassOf 'gestational trophoblastic disease' 'Gestational trophoblastic neoplasm' SubClassOf 'reproductive system neoplasm' http://purl.obolibrary.org/obo/MONDO_0021091 papillary cystadenoma 'papillary cystadenoma' SubClassOf 'cystadenoma' 'papillary cystadenoma' SubClassOf 'cystadenoma' http://www.orpha.net/ORDO/Orphanet_98902 Amish nemaline myopathy 'Amish nemaline myopathy' SubClassOf 'congenital nemaline myopathy' 'Amish nemaline myopathy' SubClassOf 'congenital nervous system disorder' 'Amish nemaline myopathy' SubClassOf 'Qualitative or quantitative defects of troponin' 'Amish nemaline myopathy' SubClassOf 'Nemaline myopathy' 'Amish nemaline myopathy' SubClassOf 'Qualitative or quantitative defects of troponin' 'Amish nemaline myopathy' SubClassOf 'Nemaline myopathy' http://www.orpha.net/ORDO/Orphanet_98904 Congenital myopathy with excess of thin filaments 'Congenital myopathy with excess of thin filaments' SubClassOf 'Qualitative or quantitative defects of alpha-actin' 'Congenital myopathy with excess of thin filaments' SubClassOf 'alpha-actinopathy' 'Congenital myopathy with excess of thin filaments' SubClassOf 'Qualitative or quantitative defects of alpha-actin' 'Congenital myopathy with excess of thin filaments' SubClassOf 'Congenital myopathy' http://www.orpha.net/ORDO/Orphanet_59306 McLeod neuroacanthocytosis syndrome 'McLeod neuroacanthocytosis syndrome' SubClassOf 'Neurometabolic disease' 'McLeod neuroacanthocytosis syndrome' SubClassOf 'familial hemolytic anemia' 'McLeod neuroacanthocytosis syndrome' SubClassOf 'Neuroacanthocytosis' 'McLeod neuroacanthocytosis syndrome' SubClassOf 'Constitutional hemolytic anemia due to acanthocytosis' 'McLeod neuroacanthocytosis syndrome' SubClassOf 'Syndrome associated with dilated cardiomyopathy' 'McLeod neuroacanthocytosis syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0021096 papillary epithelial neoplasm 'papillary epithelial neoplasm' SubClassOf 'epithelial neoplasm' 'papillary epithelial neoplasm' SubClassOf 'epithelial neoplasm' http://www.orpha.net/ORDO/Orphanet_98905 Congenital multicore myopathy with external ophthalmoplegia 'Congenital multicore myopathy with external ophthalmoplegia' SubClassOf 'RYR1-related myopathy' 'Congenital multicore myopathy with external ophthalmoplegia' SubClassOf 'Multiminicore myopathy' 'Congenital multicore myopathy with external ophthalmoplegia' SubClassOf 'Multiminicore myopathy' http://www.orpha.net/ORDO/Orphanet_98911 Distal myotilinopathy 'Distal myotilinopathy' SubClassOf 'Autosomal dominant distal myopathy' 'Distal myotilinopathy' SubClassOf 'Qualitative or quantitative defects of myotilin' 'Distal myotilinopathy' SubClassOf 'Myofibrillar myopathy' 'Distal myotilinopathy' SubClassOf 'Autosomal dominant limb-girdle muscular dystrophy' 'Distal myotilinopathy' SubClassOf 'Autosomal dominant distal myopathy' 'Distal myotilinopathy' SubClassOf 'Qualitative or quantitative defects of myotilin' 'Distal myotilinopathy' SubClassOf 'Myofibrillar myopathy' http://www.orpha.net/ORDO/Orphanet_98910 Alpha-crystallinopathy 'Alpha-crystallinopathy' SubClassOf 'Qualitative or quantitative defects of alphaB-cristallin' 'Alpha-crystallinopathy' SubClassOf 'Myofibrillar myopathy' 'Alpha-crystallinopathy' SubClassOf 'Qualitative or quantitative defects of alphaB-cristallin' 'Alpha-crystallinopathy' SubClassOf 'Myofibrillar myopathy' http://www.orpha.net/ORDO/Orphanet_98913 Postsynaptic congenital myasthenic syndromes 'Postsynaptic congenital myasthenic syndromes' SubClassOf 'Congenital myasthenic syndromes' 'Postsynaptic congenital myasthenic syndromes' SubClassOf 'congenital nervous system disorder' 'Postsynaptic congenital myasthenic syndromes' SubClassOf 'Congenital myasthenic syndromes' http://www.orpha.net/ORDO/Orphanet_98912 Late-onset distal myopathy, Markesbery-Griggs type 'Late-onset distal myopathy, Markesbery-Griggs type' SubClassOf 'Myofibrillar myopathy' 'Late-onset distal myopathy, Markesbery-Griggs type' SubClassOf 'Qualitative or quantitative defects of protein ZASP' 'Late-onset distal myopathy, Markesbery-Griggs type' SubClassOf 'Autosomal dominant distal myopathy' 'Late-onset distal myopathy, Markesbery-Griggs type' SubClassOf 'Myofibrillar myopathy' 'Late-onset distal myopathy, Markesbery-Griggs type' SubClassOf 'Qualitative or quantitative defects of protein ZASP' 'Late-onset distal myopathy, Markesbery-Griggs type' SubClassOf 'Autosomal dominant distal myopathy' http://www.orpha.net/ORDO/Orphanet_98915 Synaptic congenital myasthenic syndromes 'Synaptic congenital myasthenic syndromes' SubClassOf 'Congenital myasthenic syndromes' 'Synaptic congenital myasthenic syndromes' SubClassOf 'Congenital myasthenic syndromes' http://www.orpha.net/ORDO/Orphanet_98914 Presynaptic congenital myasthenic syndromes 'Presynaptic congenital myasthenic syndromes' SubClassOf 'Congenital myasthenic syndromes' 'Presynaptic congenital myasthenic syndromes' SubClassOf 'Congenital myasthenic syndromes' http://purl.obolibrary.org/obo/MONDO_0045056 grade II meningioma 'grade II meningioma' SubClassOf 'Meningioma' 'grade II meningioma' EquivalentTo 'Meningioma' and ('has modifier' some 'tumor grade 2, general grading system') 'grade II meningioma' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0016642 and ('has modifier' some 'tumor grade 2, general grading system') 'grade II meningioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016642 http://www.orpha.net/ORDO/Orphanet_98920 Spinal muscular atrophy with respiratory distress type 1 'Spinal muscular atrophy with respiratory distress type 1' SubClassOf 'spinal muscular atrophy' 'Spinal muscular atrophy with respiratory distress type 1' SubClassOf 'Autosomal recessive distal hereditary motor neuropathy' 'Spinal muscular atrophy with respiratory distress type 1' SubClassOf 'Autosomal recessive distal hereditary motor neuropathy' http://www.orpha.net/ORDO/Orphanet_155889 Coloboma of inferior eyelid 'Coloboma of inferior eyelid' SubClassOf 'Oblique facial cleft' 'Coloboma of inferior eyelid' SubClassOf 'Oblique facial cleft' http://www.orpha.net/ORDO/Orphanet_155884 Coloboma of superior eyelid 'Coloboma of superior eyelid' SubClassOf 'Oblique facial cleft' 'Coloboma of superior eyelid' SubClassOf 'Oblique facial cleft' http://www.orpha.net/ORDO/Orphanet_50944 Schöpf-Schulz-Passarge syndrome 'Schöpf-Schulz-Passarge syndrome' SubClassOf 'Diffuse palmoplantar keratoderma' 'Schöpf-Schulz-Passarge syndrome' SubClassOf 'autosomal recessive disease' 'Schöpf-Schulz-Passarge syndrome' SubClassOf 'ectodermal dysplasia WNT10A related' 'Schöpf-Schulz-Passarge syndrome' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_50943 Keratolytic winter erythema 'Keratolytic winter erythema' SubClassOf 'genetic skin disease' 'Keratolytic winter erythema' SubClassOf 'epidermal disease' http://www.orpha.net/ORDO/Orphanet_50945 Blomstrand lethal chondrodysplasia 'Blomstrand lethal chondrodysplasia' SubClassOf 'Neonatal osteosclerotic dysplasia' 'Blomstrand lethal chondrodysplasia' SubClassOf 'Neonatal osteosclerotic dysplasia' http://www.orpha.net/ORDO/Orphanet_50942 Keratosis palmoplantaris striata 'Keratosis palmoplantaris striata' SubClassOf 'Isolated focal palmoplantar keratoderma' 'Keratosis palmoplantaris striata' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0009200 Eisenmenger syndrome 'Eisenmenger syndrome' SubClassOf 'syndromic disease' 'Eisenmenger syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0009201 myopic macular degeneration 'myopic macular degeneration' SubClassOf 'Genetic vitreous-retinal disease' 'myopic macular degeneration' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020238 http://www.orpha.net/ORDO/Orphanet_86923 Hereditary palmoplantar keratoderma, Gamborg-Nielsen type 'Hereditary palmoplantar keratoderma, Gamborg-Nielsen type' SubClassOf 'Autosomal recessive isolated diffuse palmoplantar keratoderma' 'Hereditary palmoplantar keratoderma, Gamborg-Nielsen type' SubClassOf 'Autosomal recessive isolated diffuse palmoplantar keratoderma' http://www.orpha.net/ORDO/Orphanet_86920 Dermatopathia pigmentosa reticularis 'Dermatopathia pigmentosa reticularis' SubClassOf 'Genetic hyperpigmentation of the skin' 'Dermatopathia pigmentosa reticularis' SubClassOf 'Diffuse palmoplantar keratoderma' 'Dermatopathia pigmentosa reticularis' SubClassOf 'Ectodermal dysplasia syndrome' 'Dermatopathia pigmentosa reticularis' SubClassOf 'Genetic hyperpigmentation of the skin' 'Dermatopathia pigmentosa reticularis' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_86919 Keratosis palmaris et plantaris - clinodactyly 'Keratosis palmaris et plantaris - clinodactyly' SubClassOf 'Diffuse palmoplantar keratoderma' http://www.orpha.net/ORDO/Orphanet_86917 Lymphedema - cleft palate 'Lymphedema - cleft palate' SubClassOf 'Milroy disease' 'Lymphedema - cleft palate' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_86918 Diffuse palmoplantar keratoderma-acrocyanosis syndrome 'Diffuse palmoplantar keratoderma-acrocyanosis syndrome' SubClassOf 'Diffuse palmoplantar keratoderma' http://www.orpha.net/ORDO/Orphanet_86915 Lymphedema - atrial septal defects - facial changes 'Lymphedema - atrial septal defects - facial changes' SubClassOf 'Primary lymphedema' 'Lymphedema - atrial septal defects - facial changes' SubClassOf 'Syndromic lymphedema' 'Lymphedema - atrial septal defects - facial changes' SubClassOf 'Syndromic lymphedema' http://www.orpha.net/ORDO/Orphanet_86913 Myoclonic epilepsy in non-progressive encephalopathies 'Myoclonic epilepsy in non-progressive encephalopathies' SubClassOf 'Infantile epilepsy syndrome' 'Myoclonic epilepsy in non-progressive encephalopathies' SubClassOf 'Infantile epilepsy syndrome' http://www.orpha.net/ORDO/Orphanet_86914 Lymphedema - cerebral arteriovenous anomaly 'Lymphedema - cerebral arteriovenous anomaly' SubClassOf 'Syndromic lymphedema' 'Lymphedema - cerebral arteriovenous anomaly' SubClassOf 'Syndromic lymphedema' http://www.orpha.net/ORDO/Orphanet_248095 Primary hypertrophic osteoarthropathy 'Primary hypertrophic osteoarthropathy' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_98977 Juvenile glaucoma 'Juvenile glaucoma' SubClassOf 'Primary glaucoma' 'Juvenile glaucoma' SubClassOf 'open-angle glaucoma' 'Juvenile glaucoma' SubClassOf 'Primary glaucoma' http://www.orpha.net/ORDO/Orphanet_98976 Congenital glaucoma 'Congenital glaucoma' SubClassOf 'Primary glaucoma' 'Congenital glaucoma' SubClassOf 'has modifier' some 'congenital' 'Congenital glaucoma' SubClassOf 'Primary glaucoma' http://www.orpha.net/ORDO/Orphanet_98979 Chandler syndrome 'Chandler syndrome' SubClassOf 'Iridocorneal endothelial syndrome' 'Chandler syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98978 Axenfeld anomaly 'Axenfeld anomaly' SubClassOf 'Goniodysgenesis' 'Axenfeld anomaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98980 Cogan-Reese syndrome 'Cogan-Reese syndrome' SubClassOf 'Iridocorneal endothelial syndrome' 'Cogan-Reese syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98981 Essential iris atrophy 'Essential iris atrophy' SubClassOf 'Iridocorneal endothelial syndrome' 'Essential iris atrophy' SubClassOf 'Iridocorneal endothelial syndrome' http://www.orpha.net/ORDO/Orphanet_96321 Polyploidy 'Polyploidy' SubClassOf 'Chromosomal anomaly' 'Polyploidy' SubClassOf 'Chromosomal anomaly' http://www.orpha.net/ORDO/Orphanet_98984 Pulverulent cataract 'Pulverulent cataract' SubClassOf 'Early-onset non-syndromic cataract' 'Pulverulent cataract' SubClassOf 'Non-syndromic congenital cataract' 'Pulverulent cataract' SubClassOf http://purl.obolibrary.org/obo/MONDO_0011060 http://www.orpha.net/ORDO/Orphanet_98983 Congenital cataract, Volkmann type 'Congenital cataract, Volkmann type' SubClassOf 'Non-syndromic congenital cataract' 'Congenital cataract, Volkmann type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98986 Coppock-like cataract 'Coppock-like cataract' SubClassOf 'Non-syndromic congenital cataract' 'Coppock-like cataract' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98985 Cataract with Y-shaped suture opacities 'Cataract with Y-shaped suture opacities' SubClassOf 'early-onset zonular cataract' 'Cataract with Y-shaped suture opacities' SubClassOf http://purl.obolibrary.org/obo/MONDO_0011060 http://www.orpha.net/ORDO/Orphanet_96325 Isochromosome Y 'Isochromosome Y' SubClassOf 'Chromosome Y structural anomaly' 'Isochromosome Y' SubClassOf 'Chromosome Y structural anomaly' http://www.orpha.net/ORDO/Orphanet_98988 Anterior polar cataract 'Anterior polar cataract' SubClassOf 'Partial congenital cataract' 'Anterior polar cataract' SubClassOf http://purl.obolibrary.org/obo/MONDO_0011060 http://www.orpha.net/ORDO/Orphanet_98987 Cataract, Hutterite type 'Cataract, Hutterite type' SubClassOf 'Non-syndromic congenital cataract' 'Cataract, Hutterite type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98989 Cerulean cataract 'Cerulean cataract' SubClassOf 'Partial congenital cataract' 'Cerulean cataract' SubClassOf 'Early-onset non-syndromic cataract' http://www.orpha.net/ORDO/Orphanet_98991 Nuclear cataract 'Nuclear cataract' SubClassOf 'Non-syndromic congenital cataract' 'Nuclear cataract' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98990 Coralliform cataract 'Coralliform cataract' SubClassOf 'Partial congenital cataract' 'Coralliform cataract' SubClassOf http://purl.obolibrary.org/obo/MONDO_0011060 http://www.orpha.net/ORDO/Orphanet_98993 Posterior polar cataract 'Posterior polar cataract' SubClassOf 'cataract 16 multiple types' 'Posterior polar cataract' SubClassOf http://purl.obolibrary.org/obo/MONDO_0011060 http://www.orpha.net/ORDO/Orphanet_98992 Partial congenital cataract 'Partial congenital cataract' SubClassOf 'Non-syndromic congenital cataract' 'Partial congenital cataract' SubClassOf 'Early-onset non-syndromic cataract' 'Partial congenital cataract' SubClassOf http://purl.obolibrary.org/obo/MONDO_0011060 http://www.orpha.net/ORDO/Orphanet_98995 Zonular cataract 'Zonular cataract' SubClassOf 'Non-syndromic congenital cataract' 'Zonular cataract' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98994 Total congenital cataract 'Total congenital cataract' SubClassOf 'Non-syndromic congenital cataract' 'Total congenital cataract' SubClassOf 'Early-onset non-syndromic cataract' 'Total congenital cataract' SubClassOf http://purl.obolibrary.org/obo/MONDO_0011060 http://www.orpha.net/ORDO/Orphanet_96334 Paternal uniparental disomy of chromosome 14 'Paternal uniparental disomy of chromosome 14' SubClassOf 'Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' 'Paternal uniparental disomy of chromosome 14' SubClassOf 'Uniparental disomy of paternal origin' 'Paternal uniparental disomy of chromosome 14' SubClassOf 'chromosome 14 disorder' 'Paternal uniparental disomy of chromosome 14' SubClassOf 'uniparental disomy' 'Paternal uniparental disomy of chromosome 14' SubClassOf 'Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' 'Paternal uniparental disomy of chromosome 14' SubClassOf 'Uniparental disomy of paternal origin' http://www.orpha.net/ORDO/Orphanet_96346 Anorectal malformation 'Anorectal malformation' SubClassOf 'Genetic digestive tract malformation' 'Anorectal malformation' SubClassOf 'Genetic digestive tract malformation' http://www.orpha.net/ORDO/Orphanet_98934 Huntington disease-like 2 'Huntington disease-like 2' SubClassOf 'Neuroacanthocytosis' 'Huntington disease-like 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98938 Colobomatous microphthalmia 'Colobomatous microphthalmia' SubClassOf 'Isolated anophthalmia - microphthalmia' 'Colobomatous microphthalmia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98942 Coloboma of choroid and retina 'Coloboma of choroid and retina' SubClassOf 'Ocular coloboma' 'Coloboma of choroid and retina' SubClassOf 'coloboma, ocular, autosomal dominant' 'Coloboma of choroid and retina' SubClassOf 'coloboma' http://www.orpha.net/ORDO/Orphanet_98941 Von Hippel anomaly 'Von Hippel anomaly' SubClassOf 'Peters anomaly' 'Von Hippel anomaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0011414 http://www.ebi.ac.uk/efo/EFO_0009259 skin carcinoma 'skin carcinoma' SubClassOf 'carcinoma' 'skin carcinoma' SubClassOf 'skin cancer' 'skin carcinoma' SubClassOf 'carcinoma' 'skin carcinoma' SubClassOf 'skin cancer' http://www.orpha.net/ORDO/Orphanet_98944 Coloboma of iris 'Coloboma of iris' SubClassOf 'coloboma, ocular, autosomal dominant' 'Coloboma of iris' SubClassOf 'Ocular coloboma' 'Coloboma of iris' SubClassOf 'coloboma' http://www.orpha.net/ORDO/Orphanet_98943 Coloboma of eye lens 'Coloboma of eye lens' SubClassOf 'coloboma' 'Coloboma of eye lens' SubClassOf 'Ocular coloboma' 'Coloboma of eye lens' SubClassOf 'coloboma' http://www.orpha.net/ORDO/Orphanet_98946 Coloboma of eyelid 'Coloboma of eyelid' SubClassOf 'Ocular coloboma' 'Coloboma of eyelid' SubClassOf 'Eyelid border anomaly' 'Coloboma of eyelid' SubClassOf 'coloboma' 'Coloboma of eyelid' SubClassOf 'Eyelid border anomaly' 'Coloboma of eyelid' SubClassOf 'coloboma' http://www.orpha.net/ORDO/Orphanet_98945 Coloboma of macula 'Coloboma of macula' SubClassOf 'Ocular coloboma' 'Coloboma of macula' SubClassOf 'Colobomatous and areolar dystrophy' 'Coloboma of macula' SubClassOf 'Genetic macular dystrophy' 'Coloboma of macula' SubClassOf 'coloboma' 'Coloboma of macula' SubClassOf 'coloboma' 'Coloboma of macula' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019118 http://www.orpha.net/ORDO/Orphanet_98948 Congenital symblepharon 'Congenital symblepharon' SubClassOf 'has modifier' some 'congenital' 'Congenital symblepharon' SubClassOf 'Isolated cryptophthalmia' 'Congenital symblepharon' SubClassOf 'Isolated cryptophthalmia' http://www.orpha.net/ORDO/Orphanet_98947 Coloboma of optic papilla 'Coloboma of optic papilla' SubClassOf 'coloboma' 'Coloboma of optic papilla' SubClassOf 'Ocular coloboma' 'Coloboma of optic papilla' SubClassOf 'coloboma' http://www.orpha.net/ORDO/Orphanet_98949 Complete cryptophthalmia 'Complete cryptophthalmia' SubClassOf 'Isolated cryptophthalmia' 'Complete cryptophthalmia' SubClassOf 'Isolated cryptophthalmia' http://www.orpha.net/ORDO/Orphanet_98951 Inverse Marcus-Gunn phenomenon 'Inverse Marcus-Gunn phenomenon' SubClassOf 'Marcus-Gunn syndrome' 'Inverse Marcus-Gunn phenomenon' SubClassOf 'Marcus-Gunn syndrome' http://www.orpha.net/ORDO/Orphanet_98950 Partial cryptophthalmia 'Partial cryptophthalmia' SubClassOf 'Isolated cryptophthalmia' 'Partial cryptophthalmia' SubClassOf 'Isolated cryptophthalmia' http://www.orpha.net/ORDO/Orphanet_98955 Lisch epithelial corneal dystrophy 'Lisch epithelial corneal dystrophy' SubClassOf 'epithelial and subepithelial corneal dystrophy' 'Lisch epithelial corneal dystrophy' SubClassOf 'Superficial corneal dystrophy' 'Lisch epithelial corneal dystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98954 Meesmann corneal dystrophy 'Meesmann corneal dystrophy' SubClassOf 'epithelial and subepithelial corneal dystrophy' 'Meesmann corneal dystrophy' SubClassOf 'Superficial corneal dystrophy' 'Meesmann corneal dystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98957 Gelatinous drop-like corneal dystrophy 'Gelatinous drop-like corneal dystrophy' SubClassOf 'lattice corneal dystrophy' 'Gelatinous drop-like corneal dystrophy' SubClassOf 'epithelial and subepithelial corneal dystrophy' 'Gelatinous drop-like corneal dystrophy' SubClassOf 'Superficial corneal dystrophy' 'Gelatinous drop-like corneal dystrophy' SubClassOf 'Superficial corneal dystrophy' http://www.orpha.net/ORDO/Orphanet_98956 Microcystic corneal dystrophy 'Microcystic corneal dystrophy' SubClassOf 'Superficial corneal dystrophy' 'Microcystic corneal dystrophy' SubClassOf 'epithelial and subepithelial corneal dystrophy' 'Microcystic corneal dystrophy' SubClassOf 'epithelial-stromal TGFBI dystrophy' 'Microcystic corneal dystrophy' SubClassOf 'Superficial corneal dystrophy' http://www.orpha.net/ORDO/Orphanet_98959 Subepithelial mucinous corneal dystrophy 'Subepithelial mucinous corneal dystrophy' SubClassOf 'epithelial and subepithelial corneal dystrophy' 'Subepithelial mucinous corneal dystrophy' SubClassOf 'Superficial corneal dystrophy' 'Subepithelial mucinous corneal dystrophy' SubClassOf 'Superficial corneal dystrophy' http://www.orpha.net/ORDO/Orphanet_98960 Thiel-Behnke corneal dystrophy 'Thiel-Behnke corneal dystrophy' SubClassOf 'Superficial corneal dystrophy' 'Thiel-Behnke corneal dystrophy' SubClassOf 'epithelial-stromal TGFBI dystrophy' 'Thiel-Behnke corneal dystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98962 Granular corneal dystrophy type I 'Granular corneal dystrophy type I' SubClassOf 'epithelial-stromal TGFBI dystrophy' 'Granular corneal dystrophy type I' SubClassOf 'Stromal corneal dystrophy' 'Granular corneal dystrophy type I' SubClassOf 'Stromal corneal dystrophy' http://www.orpha.net/ORDO/Orphanet_98961 Reis-Bücklers corneal dystrophy 'Reis-Bücklers corneal dystrophy' SubClassOf 'epithelial-stromal TGFBI dystrophy' 'Reis-Bücklers corneal dystrophy' SubClassOf 'Superficial corneal dystrophy' 'Reis-Bücklers corneal dystrophy' SubClassOf 'Superficial corneal dystrophy' http://www.orpha.net/ORDO/Orphanet_98964 Lattice corneal dystrophy type I 'Lattice corneal dystrophy type I' SubClassOf 'lattice corneal dystrophy' 'Lattice corneal dystrophy type I' SubClassOf 'epithelial-stromal TGFBI dystrophy' 'Lattice corneal dystrophy type I' SubClassOf 'Stromal corneal dystrophy' http://www.orpha.net/ORDO/Orphanet_98963 Granular corneal dystrophy type II 'Granular corneal dystrophy type II' SubClassOf 'epithelial-stromal TGFBI dystrophy' 'Granular corneal dystrophy type II' SubClassOf 'Stromal corneal dystrophy' 'Granular corneal dystrophy type II' SubClassOf 'Stromal corneal dystrophy' http://www.ebi.ac.uk/efo/EFO_0010266 Charcot-Marie-Tooth disease type 1G 'Charcot-Marie-Tooth disease type 1G' SubClassOf 'Charcot-Marie-Tooth disease type 1' 'Charcot-Marie-Tooth disease type 1G' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019011 http://www.ebi.ac.uk/efo/EFO_0010264 spinal muscular atrophy, lower extremity-predominant, 2B, prenatal onset, autosomal dominant 'spinal muscular atrophy, lower extremity-predominant, 2B, prenatal onset, autosomal dominant' SubClassOf 'Genetic motor neuron disease' 'spinal muscular atrophy, lower extremity-predominant, 2B, prenatal onset, autosomal dominant' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024257 http://www.orpha.net/ORDO/Orphanet_98967 Schnyder corneal dystrophy 'Schnyder corneal dystrophy' SubClassOf 'Stromal corneal dystrophy' 'Schnyder corneal dystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98969 Macular corneal dystrophy 'Macular corneal dystrophy' SubClassOf 'Genetic macular dystrophy' 'Macular corneal dystrophy' SubClassOf 'Stromal corneal dystrophy' 'Macular corneal dystrophy' SubClassOf 'Stromal corneal dystrophy' http://www.orpha.net/ORDO/Orphanet_98971 Posterior amorphous corneal dystrophy 'Posterior amorphous corneal dystrophy' SubClassOf 'Stromal corneal dystrophy' 'Posterior amorphous corneal dystrophy' SubClassOf 'Stromal corneal dystrophy' http://www.orpha.net/ORDO/Orphanet_98970 Fleck corneal dystrophy 'Fleck corneal dystrophy' SubClassOf 'Stromal corneal dystrophy' 'Fleck corneal dystrophy' SubClassOf 'Stromal corneal dystrophy' http://www.orpha.net/ORDO/Orphanet_98973 Posterior polymorphous corneal dystrophy 'Posterior polymorphous corneal dystrophy' SubClassOf 'Posterior corneal dystrophy' 'Posterior polymorphous corneal dystrophy' SubClassOf 'corneal endothelial dystrophy' 'Posterior polymorphous corneal dystrophy' SubClassOf 'Posterior corneal dystrophy' http://www.orpha.net/ORDO/Orphanet_98972 Central cloudy dystrophy of Francois 'Central cloudy dystrophy of Francois' SubClassOf 'Posterior corneal dystrophy' 'Central cloudy dystrophy of Francois' SubClassOf 'Stromal corneal dystrophy' 'Central cloudy dystrophy of Francois' SubClassOf 'Posterior corneal dystrophy' http://www.orpha.net/ORDO/Orphanet_98975 Congenital hereditary endothelial dystrophy type I 'Congenital hereditary endothelial dystrophy type I' SubClassOf 'Posterior corneal dystrophy' 'Congenital hereditary endothelial dystrophy type I' SubClassOf 'Posterior corneal dystrophy' http://www.orpha.net/ORDO/Orphanet_98974 Fuchs endothelial corneal dystrophy 'Fuchs endothelial corneal dystrophy' SubClassOf 'Posterior corneal dystrophy' 'Fuchs endothelial corneal dystrophy' SubClassOf 'corneal endothelial dystrophy' 'Fuchs endothelial corneal dystrophy' SubClassOf 'Posterior corneal dystrophy' http://www.ebi.ac.uk/efo/EFO_0009190 Thyrotoxicosis 'Thyrotoxicosis' SubClassOf 'Graves disease' 'Thyrotoxicosis' SubClassOf 'Graves disease' http://www.ebi.ac.uk/efo/EFO_0009178 neurofilament light chain measurement 'neurofilament light chain measurement' SubClassOf 'is_about' some 'Huntington disease' 'neurofilament light chain measurement' SubClassOf 'is_about' some http://purl.obolibrary.org/obo/MONDO_0007739 http://www.orpha.net/ORDO/Orphanet_238670 Isolated thyrotropin-releasing hormone deficiency 'Isolated thyrotropin-releasing hormone deficiency' SubClassOf 'Central congenital hypothyroidism' 'Isolated thyrotropin-releasing hormone deficiency' SubClassOf 'Central congenital hypothyroidism' http://purl.obolibrary.org/obo/MONDO_0021107 narcolepsy 'narcolepsy' SubClassOf 'Rare genetic neurological disorder' 'narcolepsy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://purl.obolibrary.org/obo/MONDO_0021109 inverted urothelial papilloma 'inverted urothelial papilloma' SubClassOf 'urothelial papilloma' 'inverted urothelial papilloma' SubClassOf 'urothelial papilloma' http://purl.obolibrary.org/obo/MONDO_0011789 familial meningioma 'familial meningioma' EquivalentTo 'Meningioma' and ('has modifier' some 'inherited') 'familial meningioma' SubClassOf 'Rare genetic neurological disorder' 'familial meningioma' SubClassOf 'Meningioma' 'familial meningioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 'familial meningioma' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0016642 and ('has modifier' some 'inherited') 'familial meningioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016642 http://purl.obolibrary.org/obo/MONDO_0060702 spondyloepimetaphyseal dysplasia, di rocco type 'spondyloepimetaphyseal dysplasia, di rocco type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'spondyloepimetaphyseal dysplasia, di rocco type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016761 'spondyloepimetaphyseal dysplasia, di rocco type' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0060704 neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures 'neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures' SubClassOf 'Rare genetic neurological disorder' 'neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://purl.obolibrary.org/obo/MONDO_0021120 functioning endocrine neoplasm 'functioning endocrine neoplasm' SubClassOf 'endocrine neoplasm' 'functioning endocrine neoplasm' SubClassOf 'endocrine neoplasm' http://purl.obolibrary.org/obo/MONDO_0021119 non-functioning endocrine neoplasm 'non-functioning endocrine neoplasm' SubClassOf 'endocrine neoplasm' 'non-functioning endocrine neoplasm' SubClassOf 'endocrine neoplasm' http://purl.obolibrary.org/obo/MONDO_0021142 acquired rippling muscle disease 'acquired rippling muscle disease' SubClassOf 'inherited rippling muscle disease' 'acquired rippling muscle disease' EquivalentTo 'Rippling muscle disease' and ('has modifier' some 'acquired') 'acquired rippling muscle disease' SubClassOf 'Rippling muscle disease' 'acquired rippling muscle disease' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0011634 and ('has modifier' some 'acquired') 'acquired rippling muscle disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0011634 http://purl.obolibrary.org/obo/MONDO_0021143 melanocytic neoplasm 'melanocytic neoplasm' SubClassOf 'neoplasm' 'melanocytic neoplasm' SubClassOf 'neoplasm' http://purl.obolibrary.org/obo/MONDO_0060752 neurodevelopmental disorder with spasticity and poor growth 'neurodevelopmental disorder with spasticity and poor growth' SubClassOf 'Rare genetic neurological disorder' 'neurodevelopmental disorder with spasticity and poor growth' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.orpha.net/ORDO/Orphanet_238613 Beckwith-Wiedemann syndrome due to NSD1 mutation 'Beckwith-Wiedemann syndrome due to NSD1 mutation' SubClassOf 'Beckwith-Wiedemann syndrome' 'Beckwith-Wiedemann syndrome due to NSD1 mutation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0060759 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 'neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures' SubClassOf 'Rare genetic neurological disorder' 'neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://purl.obolibrary.org/obo/MONDO_0021155 X-linked cone-rod dystrophy 'X-linked cone-rod dystrophy' SubClassOf 'Cone rod dystrophy' 'X-linked cone-rod dystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015993 http://purl.obolibrary.org/obo/MONDO_0060720 congenital disorder of glycosylation with defective fucosylation 'congenital disorder of glycosylation with defective fucosylation' SubClassOf 'Congenital disorder of glycosylation' 'congenital disorder of glycosylation with defective fucosylation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015286 http://purl.obolibrary.org/obo/MONDO_0060724 glycosylphosphatidylinositol biosynthesis defect 17 'glycosylphosphatidylinositol biosynthesis defect 17' SubClassOf 'Congenital disorder of glycosylation' 'glycosylphosphatidylinositol biosynthesis defect 17' SubClassOf 'Disorder of lipid metabolism' 'glycosylphosphatidylinositol biosynthesis defect 17' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002525 'glycosylphosphatidylinositol biosynthesis defect 17' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015286 http://purl.obolibrary.org/obo/MONDO_0021187 hyperlipidemia 'hyperlipidemia' SubClassOf 'metabolic disease' 'hyperlipidemia' SubClassOf 'metabolic disease' http://www.orpha.net/ORDO/Orphanet_141258 Tessier number 4 facial cleft 'Tessier number 4 facial cleft' SubClassOf 'Oblique facial cleft' 'Tessier number 4 facial cleft' SubClassOf 'Oculomaxillofacial dysostosis' 'Tessier number 4 facial cleft' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_200037 Paroxysmal dystonia 'Paroxysmal dystonia' SubClassOf 'Combined dystonia' 'Paroxysmal dystonia' SubClassOf 'Combined dystonia' http://www.orpha.net/ORDO/Orphanet_141253 Oblique facial cleft 'Oblique facial cleft' SubClassOf 'facial cleft' http://www.orpha.net/ORDO/Orphanet_238650 Congenital primary megaureter, refluxing form 'Congenital primary megaureter, refluxing form' SubClassOf 'Congenital primary megaureter' 'Congenital primary megaureter, refluxing form' SubClassOf 'has modifier' some 'congenital' 'Congenital primary megaureter, refluxing form' SubClassOf 'Congenital primary megaureter' http://www.orpha.net/ORDO/Orphanet_238654 Congenital primary megaureter, nonrefluxing and unobstructed form 'Congenital primary megaureter, nonrefluxing and unobstructed form' SubClassOf 'Congenital primary megaureter' 'Congenital primary megaureter, nonrefluxing and unobstructed form' SubClassOf 'Congenital primary megaureter' http://www.orpha.net/ORDO/Orphanet_141261 Tessier number 5 facial cleft 'Tessier number 5 facial cleft' SubClassOf 'Oblique facial cleft' 'Tessier number 5 facial cleft' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_141269 Lateral facial cleft 'Lateral facial cleft' SubClassOf 'Genetic head and neck malformation' 'Lateral facial cleft' SubClassOf 'facial cleft' 'Lateral facial cleft' SubClassOf 'Genetic head and neck malformation' http://www.orpha.net/ORDO/Orphanet_141265 Tessier number 6 facial cleft 'Tessier number 6 facial cleft' SubClassOf 'Oblique facial cleft' 'Tessier number 6 facial cleft' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_238666 Isolated congenital hypogonadotropic hypogonadism 'Isolated congenital hypogonadotropic hypogonadism' SubClassOf 'Non-syndromic male infertility due to sperm motility disorder' 'Isolated congenital hypogonadotropic hypogonadism' SubClassOf 'Congenital hypogonadotropic hypogonadism' 'Isolated congenital hypogonadotropic hypogonadism' SubClassOf 'has modifier' some 'congenital' 'Isolated congenital hypogonadotropic hypogonadism' EquivalentTo 'Congenital hypogonadotropic hypogonadism' and ('has modifier' some 'has an isolated presentation') 'Isolated congenital hypogonadotropic hypogonadism' SubClassOf 'Congenital hypogonadotropic hypogonadism' http://www.orpha.net/ORDO/Orphanet_155899 Mandibulofacial dysostosis 'Mandibulofacial dysostosis' SubClassOf 'Otomandibular dysplasia' 'Mandibulofacial dysostosis' SubClassOf 'Otomandibular dysplasia' http://www.orpha.net/ORDO/Orphanet_155896 Otomandibular dysplasia 'Otomandibular dysplasia' SubClassOf 'disorder of facial skeleton' 'Otomandibular dysplasia' SubClassOf 'genetic otorhinolaryngologic disease' 'Otomandibular dysplasia' SubClassOf 'otorhinolaryngologic disease' 'Otomandibular dysplasia' SubClassOf 'developmental defect during embryogenesis' 'Otomandibular dysplasia' SubClassOf 'Genetic head and neck malformation' http://www.orpha.net/ORDO/Orphanet_141276 Commissural facial cleft 'Commissural facial cleft' SubClassOf 'Lateral facial cleft' 'Commissural facial cleft' SubClassOf 'Lateral facial cleft' 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 'Rare genetic neurological disorder' 'intellectual developmental disorder with dysmorphic facies and behavioral abnormalities' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://purl.obolibrary.org/obo/MONDO_0060761 neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum 'neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum' SubClassOf 'Rare genetic neurological disorder' 'neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 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 'Rare genetic neurological disorder' 'intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.orpha.net/ORDO/Orphanet_238642 Primary megaureter, adult-onset form 'Primary megaureter, adult-onset form' SubClassOf 'Congenital primary megaureter' 'Primary megaureter, adult-onset form' SubClassOf 'Congenital primary megaureter' http://www.orpha.net/ORDO/Orphanet_238646 Congenital primary megaureter, obstructed form 'Congenital primary megaureter, obstructed form' SubClassOf 'has modifier' some 'congenital' 'Congenital primary megaureter, obstructed form' SubClassOf 'Congenital primary megaureter' 'Congenital primary megaureter, obstructed form' SubClassOf 'Congenital primary megaureter' http://purl.obolibrary.org/obo/MONDO_0060593 actn3 deficiency 'actn3 deficiency' SubClassOf 'genetic disorder' 'actn3 deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0060596 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 'neurodevelopmental disorder with dysmorphic facies and distal limb anomalies' SubClassOf 'Rare genetic neurological disorder' 'neurodevelopmental disorder with dysmorphic facies and distal limb anomalies' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://purl.obolibrary.org/obo/MONDO_0060582 auditory neuropathy-optic atrophy syndrome 'auditory neuropathy-optic atrophy syndrome' SubClassOf 'Mitochondrial disease' 'auditory neuropathy-optic atrophy syndrome' SubClassOf 'Syndromic genetic deafness' 'auditory neuropathy-optic atrophy syndrome' SubClassOf 'Neurometabolic disease' 'auditory neuropathy-optic atrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019589 'auditory neuropathy-optic atrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019058 'auditory neuropathy-optic atrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044970 http://www.orpha.net/ORDO/Orphanet_50815 Branchiogenic deafness syndrome 'Branchiogenic deafness syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Branchiogenic deafness syndrome' SubClassOf 'Syndromic genetic deafness' 'Branchiogenic deafness syndrome' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_50812 Zellweger-like syndrome without peroxisomal anomalies 'Zellweger-like syndrome without peroxisomal anomalies' SubClassOf 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' 'Zellweger-like syndrome without peroxisomal anomalies' SubClassOf 'disease shares features of' some 'Zellweger syndrome' 'Zellweger-like syndrome without peroxisomal anomalies' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' 'Zellweger-like syndrome without peroxisomal anomalies' SubClassOf 'Mitochondrial oxidative phosphorylation disorder' 'Zellweger-like syndrome without peroxisomal anomalies' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_50811 Lipodystrophy - intellectual disability - deafness 'Lipodystrophy - intellectual disability - deafness' SubClassOf 'progeroid syndrome' 'Lipodystrophy - intellectual disability - deafness' SubClassOf 'Developmental anomaly of metabolic origin' 'Lipodystrophy - intellectual disability - deafness' SubClassOf 'Genetic progeroid syndrome' 'Lipodystrophy - intellectual disability - deafness' SubClassOf 'Syndromic genetic deafness' 'Lipodystrophy - intellectual disability - deafness' SubClassOf 'Genetic lipodystrophy' 'Lipodystrophy - intellectual disability - deafness' SubClassOf 'progeroid syndrome' 'Lipodystrophy - intellectual disability - deafness' SubClassOf 'Syndromic genetic deafness' 'Lipodystrophy - intellectual disability - deafness' SubClassOf 'Genetic lipodystrophy' http://www.orpha.net/ORDO/Orphanet_50814 Craniolenticulosutural dysplasia 'Craniolenticulosutural dysplasia' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Craniolenticulosutural dysplasia' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_50810 Microlissencephaly - micromelia 'Microlissencephaly - micromelia' SubClassOf 'syndromic intellectual disability' 'Microlissencephaly - micromelia' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0060577 neurodevelopmental disorder with microcephaly, ataxia, and seizures 'neurodevelopmental disorder with microcephaly, ataxia, and seizures' SubClassOf 'Rare genetic neurological disorder' 'neurodevelopmental disorder with microcephaly, ataxia, and seizures' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://purl.obolibrary.org/obo/MONDO_0060578 neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures 'neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures' SubClassOf 'Rare genetic neurological disorder' 'neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.ebi.ac.uk/efo/EFO_0000717 systemic scleroderma 'systemic scleroderma' SubClassOf 'Familial restrictive cardiomyopathy' 'systemic scleroderma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016340 http://www.orpha.net/ORDO/Orphanet_98809 Paroxysmal kinesigenic dyskinesia 'Paroxysmal kinesigenic dyskinesia' SubClassOf 'Paroxysmal dyskinesia' 'Paroxysmal kinesigenic dyskinesia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98808 Autosomal dominant dopa-responsive dystonia 'Autosomal dominant dopa-responsive dystonia' SubClassOf 'Disorder of pterin metabolism' 'Autosomal dominant dopa-responsive dystonia' SubClassOf 'Dopa-responsive dystonia' 'Autosomal dominant dopa-responsive dystonia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_141127 Congenital tracheal stenosis 'Congenital tracheal stenosis' SubClassOf 'Tracheal anomaly' 'Congenital tracheal stenosis' SubClassOf 'genetic otorhinolaryngological malformation' 'Congenital tracheal stenosis' SubClassOf 'has modifier' some 'congenital' 'Congenital tracheal stenosis' SubClassOf 'Tracheal anomaly' http://www.orpha.net/ORDO/Orphanet_98805 Primary dystonia, DYT4 type 'Primary dystonia, DYT4 type' SubClassOf 'Focal, segmental or multifocal dystonia' 'Primary dystonia, DYT4 type' SubClassOf 'Focal, segmental or multifocal dystonia' http://www.orpha.net/ORDO/Orphanet_98807 Primary dystonia, DYT13 type 'Primary dystonia, DYT13 type' SubClassOf 'Focal, segmental or multifocal dystonia' 'Primary dystonia, DYT13 type' SubClassOf 'Focal, segmental or multifocal dystonia' http://www.orpha.net/ORDO/Orphanet_98806 Primary dystonia, DYT6 type 'Primary dystonia, DYT6 type' SubClassOf 'Generalized isolated dystonia' 'Primary dystonia, DYT6 type' SubClassOf 'Generalized isolated dystonia' http://www.ebi.ac.uk/efo/EFO_0000702 small cell lung carcinoma 'small cell lung carcinoma' SubClassOf 'lung carcinoma' 'small cell lung carcinoma' SubClassOf 'small cell carcinoma' 'small cell lung carcinoma' SubClassOf 'lung carcinoma' 'small cell lung carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0025511 'small cell lung carcinoma' SubClassOf 'small cell carcinoma' http://www.orpha.net/ORDO/Orphanet_98810 Paroxysmal non-kinesigenic dyskinesia 'Paroxysmal non-kinesigenic dyskinesia' SubClassOf 'Paroxysmal dyskinesia' 'Paroxysmal non-kinesigenic dyskinesia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000707 squamous cell carcinoma 'squamous cell carcinoma' SubClassOf 'carcinoma' 'squamous cell carcinoma' SubClassOf 'carcinoma' http://www.orpha.net/ORDO/Orphanet_141118 Nasal encephalocele 'Nasal encephalocele' SubClassOf 'nose and cavum anomaly' 'Nasal encephalocele' SubClassOf 'genetic otorhinolaryngologic disease' 'Nasal encephalocele' SubClassOf 'Isolated encephalocele' 'Nasal encephalocele' SubClassOf 'Isolated encephalocele' http://www.ebi.ac.uk/efo/EFO_0000708 squamous cell lung carcinoma 'squamous cell lung carcinoma' SubClassOf 'squamous cell carcinoma' 'squamous cell lung carcinoma' SubClassOf 'squamous cell carcinoma' http://www.ebi.ac.uk/efo/EFO_0000731 uterine fibroid 'uterine fibroid' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017127 http://www.orpha.net/ORDO/Orphanet_86823 Lissencephaly with cerebellar hypoplasia 'Lissencephaly with cerebellar hypoplasia' SubClassOf 'Lissencephaly' 'Lissencephaly with cerebellar hypoplasia' SubClassOf 'Lissencephaly' http://www.orpha.net/ORDO/Orphanet_86821 Lissencephaly type 3 - familial fetal akinesia sequence 'Lissencephaly type 3 - familial fetal akinesia sequence' SubClassOf 'Lissencephaly type 3' 'Lissencephaly type 3 - familial fetal akinesia sequence' SubClassOf 'Lissencephaly type 3' http://www.orpha.net/ORDO/Orphanet_86822 Lissencephaly type 3 - metacarpal bone dysplasia 'Lissencephaly type 3 - metacarpal bone dysplasia' SubClassOf 'Lissencephaly type 3' 'Lissencephaly type 3 - metacarpal bone dysplasia' SubClassOf 'Lissencephaly type 3' http://www.orpha.net/ORDO/Orphanet_86820 Familial avascular necrosis of femoral head 'Familial avascular necrosis of femoral head' SubClassOf 'primary avascular necrosis' 'Familial avascular necrosis of femoral head' SubClassOf 'Avascular necrosis of genetic origin' 'Familial avascular necrosis of femoral head' SubClassOf 'Avascular necrosis of genetic origin' http://www.orpha.net/ORDO/Orphanet_86818 Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis 'Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis' SubClassOf 'congenital nervous system disorder' 'Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis' SubClassOf 'familial hemolytic anemia' 'Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis' SubClassOf 'X-linked syndromic intellectual disability' 'Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis' SubClassOf 'congenital anemia' 'Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis' SubClassOf 'Partial deletion of the long arm of chromosome X' 'Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 'Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis' SubClassOf 'Partial deletion of the long arm of chromosome X' http://www.orpha.net/ORDO/Orphanet_86819 Atrichia with papular lesions 'Atrichia with papular lesions' SubClassOf 'genetic alopecia' http://www.orpha.net/ORDO/Orphanet_86812 Autosomal recessive limb-girdle muscular dystrophy type 2K 'Autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf 'myopathy caused by variation in POMT1' 'Autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf 'muscular dystrophy-dystroglycanopathy, type C' 'Autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf 'Qualitative or quantitative defects of protein O-mannosyltransferase 1' 'Autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf 'Disorder of O-mannosylglycan synthesis' 'Autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf 'Disorder of O-mannosylglycan synthesis' 'Autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf 'Qualitative or quantitative defects of protein O-mannosyltransferase 1' http://www.orpha.net/ORDO/Orphanet_86813 Helicoid peripapillary chorioretinal degeneration 'Helicoid peripapillary chorioretinal degeneration' SubClassOf 'Retinal dystrophy' 'Helicoid peripapillary chorioretinal degeneration' SubClassOf 'Retinal dystrophy' http://www.orpha.net/ORDO/Orphanet_86816 Congenital analbuminemia 'Congenital analbuminemia' SubClassOf 'congenital hematological disorder' http://www.orpha.net/ORDO/Orphanet_86817 Hemolytic anemia due to adenylate kinase deficiency 'Hemolytic anemia due to adenylate kinase deficiency' SubClassOf 'familial hemolytic anemia' http://www.orpha.net/ORDO/Orphanet_86814 Benign adult familial myoclonic epilepsy 'Benign adult familial myoclonic epilepsy' SubClassOf 'Primary myoclonus' 'Benign adult familial myoclonic epilepsy' SubClassOf 'epilepsy, familial adult myoclonic' 'Benign adult familial myoclonic epilepsy' SubClassOf 'Adolescent-onset epilepsy syndrome' 'Benign adult familial myoclonic epilepsy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 'Benign adult familial myoclonic epilepsy' SubClassOf 'Adolescent-onset epilepsy syndrome' 'Benign adult familial myoclonic epilepsy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017651 http://www.orpha.net/ORDO/Orphanet_86815 Aplasia of lacrimal and salivary glands 'Aplasia of lacrimal and salivary glands' SubClassOf 'Excretory apparatus of the lacrimal system anomaly' 'Aplasia of lacrimal and salivary glands' SubClassOf 'Excretory apparatus of the lacrimal system anomaly' http://www.orpha.net/ORDO/Orphanet_307055 Rare parkinsonian syndrome due to genetic neurodegenerative disease 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' SubClassOf 'Genetic neurodegenerative disease' 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024237 http://www.orpha.net/ORDO/Orphanet_307058 Miscellaneous movement disorder due to genetic neurodegenerative disease 'Miscellaneous movement disorder due to genetic neurodegenerative disease' SubClassOf 'Genetic neurodegenerative disease' 'Miscellaneous movement disorder due to genetic neurodegenerative disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024237 http://www.orpha.net/ORDO/Orphanet_307064 Rare genetic myoclonus 'Rare genetic myoclonus' SubClassOf 'Rare genetic movement disorder' 'Rare genetic myoclonus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_307067 Rare genetic disease with myoclonus as a major feature 'Rare genetic disease with myoclonus as a major feature' SubClassOf 'Rare genetic myoclonus' 'Rare genetic disease with myoclonus as a major feature' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.orpha.net/ORDO/Orphanet_98856 Charcot-Marie-Tooth disease type 2B1 'Charcot-Marie-Tooth disease type 2B1' SubClassOf 'autosomal recessive axonal hereditary motor and sensory neuropathy' 'Charcot-Marie-Tooth disease type 2B1' SubClassOf 'laminopathy' 'Charcot-Marie-Tooth disease type 2B1' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'Charcot-Marie-Tooth disease type 2B1' SubClassOf 'Autosomal recessive axonal Charcot-Marie-Tooth disease type 2' 'Charcot-Marie-Tooth disease type 2B1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000770 malignant pleural mesothelioma 'malignant pleural mesothelioma' SubClassOf 'Pleural Mesothelioma' 'malignant pleural mesothelioma' SubClassOf 'Malignant Mesothelioma' 'malignant pleural mesothelioma' SubClassOf 'Pleural Mesothelioma' 'malignant pleural mesothelioma' SubClassOf 'Malignant Mesothelioma' http://www.orpha.net/ORDO/Orphanet_98855 Autosomal recessive Emery-Dreifuss muscular dystrophy 'Autosomal recessive Emery-Dreifuss muscular dystrophy' SubClassOf 'autosomal recessive disease' 'Autosomal recessive Emery-Dreifuss muscular dystrophy' SubClassOf 'Emery-Dreifuss muscular dystrophy' 'Autosomal recessive Emery-Dreifuss muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016830 http://www.ebi.ac.uk/efo/EFO_0000773 temporal lobe epilepsy 'temporal lobe epilepsy' SubClassOf 'Familial partial epilepsy' 'temporal lobe epilepsy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017704 http://www.orpha.net/ORDO/Orphanet_98863 X-linked Emery-Dreifuss muscular dystrophy 'X-linked Emery-Dreifuss muscular dystrophy' SubClassOf 'laminopathy' 'X-linked Emery-Dreifuss muscular dystrophy' SubClassOf 'Qualitative or quantitative defects of emerin' 'X-linked Emery-Dreifuss muscular dystrophy' SubClassOf 'Emery-Dreifuss muscular dystrophy' 'X-linked Emery-Dreifuss muscular dystrophy' SubClassOf 'X-linked disease' 'X-linked Emery-Dreifuss muscular dystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96201 X small rings 'X small rings' SubClassOf 'ring chromosome disorder' 'X small rings' SubClassOf 'Non-acquired premature ovarian failure' 'X small rings' SubClassOf 'Rare female infertility due to an anomaly of ovarian function of genetic origin' 'X small rings' SubClassOf 'Chromosome X structural anomaly' 'X small rings' SubClassOf 'chromosome X disorder' 'X small rings' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000760 malignant peripheral nerve sheath tumor 'malignant peripheral nerve sheath tumor' SubClassOf 'nerve sheath neoplasm' 'malignant peripheral nerve sheath tumor' SubClassOf 'peripheral nervous system cancer' 'malignant peripheral nerve sheath tumor' SubClassOf 'nerve sheath neoplasm' 'malignant peripheral nerve sheath tumor' SubClassOf 'peripheral nervous system cancer' http://www.orpha.net/ORDO/Orphanet_98869 Congenital dyserythropoietic anemia type I 'Congenital dyserythropoietic anemia type I' SubClassOf 'congenital anemia' 'Congenital dyserythropoietic anemia type I' SubClassOf 'Congenital dyserythropoietic anemia' 'Congenital dyserythropoietic anemia type I' SubClassOf 'Congenital dyserythropoietic anemia' http://www.orpha.net/ORDO/Orphanet_98868 Southeast Asian ovalocytosis 'Southeast Asian ovalocytosis' SubClassOf 'Hereditary elliptocytosis' 'Southeast Asian ovalocytosis' SubClassOf 'Hereditary stomatocytosis' 'Southeast Asian ovalocytosis' SubClassOf 'familial hemolytic anemia' 'Southeast Asian ovalocytosis' SubClassOf 'Hereditary stomatocytosis' http://www.orpha.net/ORDO/Orphanet_98870 Congenital dyserythropoietic anemia type III 'Congenital dyserythropoietic anemia type III' SubClassOf 'congenital anemia' 'Congenital dyserythropoietic anemia type III' SubClassOf 'Congenital dyserythropoietic anemia' 'Congenital dyserythropoietic anemia type III' SubClassOf 'Congenital dyserythropoietic anemia' http://www.ebi.ac.uk/efo/EFO_0000768 idiopathic pulmonary fibrosis 'idiopathic pulmonary fibrosis' SubClassOf 'idiopathic interstitial pneumonia' 'idiopathic pulmonary fibrosis' SubClassOf 'idiopathic interstitial pneumonia' http://www.orpha.net/ORDO/Orphanet_98873 Congenital dyserythropoietic anemia type II 'Congenital dyserythropoietic anemia type II' SubClassOf 'Congenital dyserythropoietic anemia' 'Congenital dyserythropoietic anemia type II' SubClassOf 'congenital anemia' 'Congenital dyserythropoietic anemia type II' SubClassOf 'Disorder of multiple glycosylation' 'Congenital dyserythropoietic anemia type II' SubClassOf 'Congenital dyserythropoietic anemia' 'Congenital dyserythropoietic anemia type II' SubClassOf 'Disorder of multiple glycosylation' http://www.orpha.net/ORDO/Orphanet_98878 Hemophilia A 'Hemophilia A' SubClassOf 'Rare genetic coagulation disorder' 'Hemophilia A' SubClassOf 'Hemophilia' 'Hemophilia A' SubClassOf 'X-linked disease' 'Hemophilia A' SubClassOf 'hemorrhagic disease' 'Hemophilia A' SubClassOf 'Hemophilia' http://www.orpha.net/ORDO/Orphanet_98879 Hemophilia B 'Hemophilia B' SubClassOf 'hemorrhagic disease' 'Hemophilia B' SubClassOf 'Hemophilia' 'Hemophilia B' SubClassOf 'Hemophilia' http://www.orpha.net/ORDO/Orphanet_98881 Familial dysfibrinogenemia 'Familial dysfibrinogenemia' SubClassOf 'Congenital fibrinogen deficiency' 'Familial dysfibrinogenemia' SubClassOf 'Congenital fibrinogen deficiency' http://www.orpha.net/ORDO/Orphanet_98880 Familial afibrinogenemia 'Familial afibrinogenemia' SubClassOf 'Familial dysfibrinogenemia' 'Familial afibrinogenemia' SubClassOf 'Congenital fibrinogen deficiency' http://www.orpha.net/ORDO/Orphanet_98885 Bleeding diathesis due to glycoprotein VI deficiency 'Bleeding diathesis due to glycoprotein VI deficiency' SubClassOf 'Bleeding diathesis due to a collagen receptor defect' 'Bleeding diathesis due to glycoprotein VI deficiency' SubClassOf 'Bleeding diathesis due to a collagen receptor defect' http://www.orpha.net/ORDO/Orphanet_98886 Bleeding diathesis due to integrin alpha2-beta1 deficiency 'Bleeding diathesis due to integrin alpha2-beta1 deficiency' SubClassOf 'Bleeding diathesis due to a collagen receptor defect' 'Bleeding diathesis due to integrin alpha2-beta1 deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98889 Bilateral perisylvian polymicrogyria 'Bilateral perisylvian polymicrogyria' SubClassOf 'Bilateral polymicrogyria' 'Bilateral perisylvian polymicrogyria' SubClassOf 'Bilateral polymicrogyria' http://www.orpha.net/ORDO/Orphanet_98888 X-linked complex spastic paraplegia 'X-linked complex spastic paraplegia' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked complex spastic paraplegia' SubClassOf 'Complex hereditary spastic paraplegia' 'X-linked complex spastic paraplegia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98892 Periventricular nodular heterotopia 'Periventricular nodular heterotopia' SubClassOf 'congenital nervous system disorder' 'Periventricular nodular heterotopia' SubClassOf 'Nodular neuronal heterotopia' 'Periventricular nodular heterotopia' SubClassOf 'Nodular neuronal heterotopia' http://www.orpha.net/ORDO/Orphanet_98893 Congenital muscular dystrophy type 1B 'Congenital muscular dystrophy type 1B' SubClassOf 'Congenital muscular dystrophy' 'Congenital muscular dystrophy type 1B' SubClassOf 'Congenital muscular dystrophy' http://www.orpha.net/ORDO/Orphanet_98896 Duchenne muscular dystrophy 'Duchenne muscular dystrophy' SubClassOf 'Myopathy with eye involvement' 'Duchenne muscular dystrophy' SubClassOf 'dilated cardiomyopathy 3B' 'Duchenne muscular dystrophy' SubClassOf 'Genetic peripheral neuropathy' 'Duchenne muscular dystrophy' SubClassOf 'Duchenne and Becker muscular dystrophy' 'Duchenne muscular dystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98895 Becker muscular dystrophy 'Becker muscular dystrophy' SubClassOf 'Duchenne and Becker muscular dystrophy' 'Becker muscular dystrophy' SubClassOf 'dilated cardiomyopathy 3B' 'Becker muscular dystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98897 Oculopharyngodistal myopathy 'Oculopharyngodistal myopathy' SubClassOf 'Ptosis' 'Oculopharyngodistal myopathy' SubClassOf 'Distal myopathy' 'Oculopharyngodistal myopathy' SubClassOf 'Progressive muscular dystrophy' 'Oculopharyngodistal myopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98890 Early-onset X-linked optic atrophy 'Early-onset X-linked optic atrophy' SubClassOf 'eye degenerative disorder' 'Early-onset X-linked optic atrophy' SubClassOf 'hereditary optic atrophy' 'Early-onset X-linked optic atrophy' SubClassOf 'X-linked syndromic intellectual disability' 'Early-onset X-linked optic atrophy' SubClassOf 'X-linked recessive optic atrophy' 'Early-onset X-linked optic atrophy' SubClassOf 'syndromic hereditary optic neuropathy' 'Early-onset X-linked optic atrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 'Early-onset X-linked optic atrophy' SubClassOf 'syndromic hereditary optic neuropathy' http://www.orpha.net/ORDO/Orphanet_3366 Isolated trigonocephaly 'Isolated trigonocephaly' SubClassOf 'Isolated craniosynostosis' 'Isolated trigonocephaly' EquivalentTo 'trigonocephaly' and ('has modifier' some 'has an isolated presentation') 'Isolated trigonocephaly' SubClassOf 'trigonocephaly' 'Isolated trigonocephaly' SubClassOf 'Isolated craniosynostosis' http://www.orpha.net/ORDO/Orphanet_3365 Trigonocephaly - broad thumbs 'Trigonocephaly - broad thumbs' SubClassOf 'Syndromic craniosynostosis' 'Trigonocephaly - broad thumbs' SubClassOf 'Syndromic craniosynostosis' http://www.orpha.net/ORDO/Orphanet_98819 Familial temporal epilepsy 'Familial temporal epilepsy' SubClassOf 'Familial partial epilepsy' 'Familial temporal epilepsy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3363 Trichomegaly - retina pigmentary degeneration - dwarfism 'Trichomegaly - retina pigmentary degeneration - dwarfism' SubClassOf 'Ectodermal dysplasia syndrome' 'Trichomegaly - retina pigmentary degeneration - dwarfism' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_3361 Trichodysplasia - xeroderma 'Trichodysplasia - xeroderma' SubClassOf 'Syndromic hair shaft abnormality' 'Trichodysplasia - xeroderma' SubClassOf 'Syndromic hair shaft abnormality' http://www.orpha.net/ORDO/Orphanet_98811 Paroxysmal exertion-induced dyskinesia 'Paroxysmal exertion-induced dyskinesia' SubClassOf 'Paroxysmal dyskinesia' 'Paroxysmal exertion-induced dyskinesia' SubClassOf 'GLUT1 deficiency syndrome' 'Paroxysmal exertion-induced dyskinesia' SubClassOf 'Paroxysmal dyskinesia' http://www.orpha.net/ORDO/Orphanet_98813 Hypohidrotic ectodermal dysplasia with immunodeficiency 'Hypohidrotic ectodermal dysplasia with immunodeficiency' SubClassOf 'Primary immunodeficiency due to a defect in adaptive immunity' 'Hypohidrotic ectodermal dysplasia with immunodeficiency' SubClassOf 'Hypohidrotic ectodermal dysplasia' 'Hypohidrotic ectodermal dysplasia with immunodeficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016535 http://www.orpha.net/ORDO/Orphanet_98816 Benign childhood occipital epilepsy, Gastaut type 'Benign childhood occipital epilepsy, Gastaut type' SubClassOf 'Benign occipital epilepsy' 'Benign childhood occipital epilepsy, Gastaut type' SubClassOf 'Benign occipital epilepsy' http://www.orpha.net/ORDO/Orphanet_3369 Trigonocephaly - short stature - developmental delay 'Trigonocephaly - short stature - developmental delay' SubClassOf 'X-linked syndromic intellectual disability' 'Trigonocephaly - short stature - developmental delay' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Trigonocephaly - short stature - developmental delay' SubClassOf 'congenital nervous system disorder' 'Trigonocephaly - short stature - developmental delay' SubClassOf 'Syndromic craniosynostosis' 'Trigonocephaly - short stature - developmental delay' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Trigonocephaly - short stature - developmental delay' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 'Trigonocephaly - short stature - developmental delay' SubClassOf 'Syndromic craniosynostosis' http://www.orpha.net/ORDO/Orphanet_98815 Benign childhood occipital epilepsy, Panayiotopoulos type 'Benign childhood occipital epilepsy, Panayiotopoulos type' SubClassOf 'Benign occipital epilepsy' 'Benign childhood occipital epilepsy, Panayiotopoulos type' SubClassOf 'Benign occipital epilepsy' http://www.orpha.net/ORDO/Orphanet_3368 Trigonocephaly - bifid nose - acral anomalies 'Trigonocephaly - bifid nose - acral anomalies' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Trigonocephaly - bifid nose - acral anomalies' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_98820 Familial focal epilepsy with variable foci 'Familial focal epilepsy with variable foci' SubClassOf 'variable age onset epilepsy' 'Familial focal epilepsy with variable foci' SubClassOf 'Familial partial epilepsy' 'Familial focal epilepsy with variable foci' SubClassOf 'Familial partial epilepsy' http://www.orpha.net/ORDO/Orphanet_3377 Trismus - pseudocamptodactyly 'Trismus - pseudocamptodactyly' SubClassOf 'Distal arthrogryposis' 'Trismus - pseudocamptodactyly' SubClassOf 'Distal arthrogryposis' http://www.orpha.net/ORDO/Orphanet_3376 Triploidy 'Triploidy' SubClassOf 'Syndromic obesity' 'Triploidy' SubClassOf 'Polyploidy' 'Triploidy' SubClassOf 'Syndromic obesity' 'Triploidy' SubClassOf 'Polyploidy' http://www.orpha.net/ORDO/Orphanet_3375 Trisomy X 'Trisomy X' SubClassOf 'Polysomy of X chromosome' 'Trisomy X' SubClassOf 'syndromic disease' 'Trisomy X' SubClassOf 'chromosome X disorder' 'Trisomy X' SubClassOf 'trisomy' 'Trisomy X' SubClassOf 'Non-acquired premature ovarian failure' 'Trisomy X' SubClassOf 'Polysomy of X chromosome' 'Trisomy X' SubClassOf 'Non-acquired premature ovarian failure' http://www.ebi.ac.uk/efo/EFO_0009135 leigh syndrome due to mitochondrial complex iv deficiency 'leigh syndrome due to mitochondrial complex iv deficiency' SubClassOf 'Leigh syndrome' 'leigh syndrome due to mitochondrial complex iv deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0009723 http://www.orpha.net/ORDO/Orphanet_3379 Distal trisomy 17q 'Distal trisomy 17q' SubClassOf 'Partial duplication of the long arm of chromosome 17' 'Distal trisomy 17q' SubClassOf 'Partial duplication of the long arm of chromosome 17' http://www.orpha.net/ORDO/Orphanet_3378 Trisomy 13 'Trisomy 13' SubClassOf 'Total autosomal trisomy' 'Trisomy 13' SubClassOf 'chromosome 13 disorder' 'Trisomy 13' SubClassOf 'Syndromic anorectal malformation' 'Trisomy 13' SubClassOf 'Congenital vitreoretinal dysplasia' 'Trisomy 13' SubClassOf 'syndromic diaphragmatic or abdominal wall malformation' 'Trisomy 13' SubClassOf 'Syndromic urogenital tract malformation' 'Trisomy 13' SubClassOf 'trisomy' 'Trisomy 13' SubClassOf 'Syndromic renal or urinary tract malformation' 'Trisomy 13' SubClassOf 'Total autosomal trisomy' 'Trisomy 13' SubClassOf 'Congenital vitreoretinal dysplasia' 'Trisomy 13' SubClassOf 'Syndromic anorectal malformation' 'Trisomy 13' SubClassOf 'Syndromic renal or urinary tract malformation' http://www.orpha.net/ORDO/Orphanet_3388 Neural tube defect 'Neural tube defect' SubClassOf 'central nervous system malformation' http://www.orpha.net/ORDO/Orphanet_3387 Isolated anterior cervical hypertrichosis 'Isolated anterior cervical hypertrichosis' SubClassOf 'Hypertrichosis' 'Isolated anterior cervical hypertrichosis' SubClassOf 'Hypertrichosis' http://www.orpha.net/ORDO/Orphanet_3383 Humerus trochlea aplasia 'Humerus trochlea aplasia' SubClassOf 'Dysostosis of genetic origin' 'Humerus trochlea aplasia' SubClassOf 'congenital limb malformation' http://www.orpha.net/ORDO/Orphanet_3389 Tuberculosis 'pulmonary non-tuberculous mycobacterial infection' DisjointWith 'Tuberculosis' 'Tuberculosis' SubClassOf 'primary bacterial infectious disease' 'Tuberculosis' SubClassOf 'has modifier' some 'rare' 'Tuberculosis' SubClassOf 'mycobacterial infectious disease' 'Tuberculosis' SubClassOf 'bacterial disease' http://www.orpha.net/ORDO/Orphanet_3380 Trisomy 18 'Trisomy 18' SubClassOf 'Total autosomal trisomy' 'Trisomy 18' SubClassOf 'Syndromic anorectal malformation' 'Trisomy 18' SubClassOf 'trisomy' 'Trisomy 18' SubClassOf 'syndromic diaphragmatic or abdominal wall malformation' 'Trisomy 18' SubClassOf 'Syndromic urogenital tract malformation' 'Trisomy 18' SubClassOf 'chromosome 18 disorder' 'Trisomy 18' SubClassOf 'Syndromic renal or urinary tract malformation' 'Trisomy 18' SubClassOf 'Total autosomal trisomy' 'Trisomy 18' SubClassOf 'Syndromic anorectal malformation' 'Trisomy 18' SubClassOf 'Syndromic renal or urinary tract malformation' http://www.orpha.net/ORDO/Orphanet_98853 Autosomal dominant Emery-Dreifuss muscular dystrophy 'Autosomal dominant Emery-Dreifuss muscular dystrophy' SubClassOf 'laminopathy' 'Autosomal dominant Emery-Dreifuss muscular dystrophy' SubClassOf 'autosomal dominant disease' 'Autosomal dominant Emery-Dreifuss muscular dystrophy' SubClassOf 'Emery-Dreifuss muscular dystrophy' 'Autosomal dominant Emery-Dreifuss muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016830 http://www.ebi.ac.uk/efo/EFO_0009162 charcot-marie-tooth disease, axonal, type 2t 'charcot-marie-tooth disease, axonal, type 2t' SubClassOf 'Autosomal recessive axonal Charcot-Marie-Tooth disease type 2' 'charcot-marie-tooth disease, axonal, type 2t' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://www.orpha.net/ORDO/Orphanet_3390 Proximal tubulopathy - diabetes mellitus - cerebellar ataxia 'Proximal tubulopathy - diabetes mellitus - cerebellar ataxia' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0009160 stromme syndrome 'stromme syndrome' SubClassOf 'Syndromic intestinal malformation' 'stromme syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'stromme syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'stromme syndrome' SubClassOf 'Rare genetic neurological disorder' 'stromme syndrome' SubClassOf 'Primary ciliary dyskinesia' 'stromme syndrome' SubClassOf 'Genetic developmental defect of the eye' 'stromme syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'stromme syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015159 'stromme syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019721 'stromme syndrome' SubClassOf 'Rare genetic neurological disorder' 'stromme syndrome' SubClassOf 'Primary ciliary dyskinesia' 'stromme syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 'stromme syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015620 'stromme syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020145 'stromme syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015212 'stromme syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016575 http://www.orpha.net/ORDO/Orphanet_3440 Waardenburg syndrome 'Waardenburg syndrome' SubClassOf 'congenital nervous system disorder' 'Waardenburg syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Waardenburg syndrome' SubClassOf 'Syndrome associated with Pierre Robin syndrome' 'Waardenburg syndrome' SubClassOf 'Syndromic genetic deafness' 'Waardenburg syndrome' SubClassOf 'Syndrome with a symptomatic strabismus' 'Waardenburg syndrome' SubClassOf 'Eyebrow/eyelashes pigmentation anomaly' 'Waardenburg syndrome' SubClassOf 'Pigmentation disorder with eye involvement' 'Waardenburg syndrome' SubClassOf 'autosomal dominant disease' 'Waardenburg syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Waardenburg syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Waardenburg syndrome' SubClassOf 'Genetic hypopigmentation of the skin' 'Waardenburg syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0009068 dicer1 syndrome 'dicer1 syndrome' SubClassOf 'disease has feature' some 'pleuropulmonary blastoma' 'dicer1 syndrome' SubClassOf 'syndromic disease' 'dicer1 syndrome' SubClassOf 'disease has feature' some 'pleuropulmonary blastoma' 'dicer1 syndrome' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_3449 Weill-Marchesani syndrome 'Weill-Marchesani syndrome' SubClassOf 'Syndrome with brachydactyly' 'Weill-Marchesani syndrome' SubClassOf 'Acromelic dysplasia' 'Weill-Marchesani syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Weill-Marchesani syndrome' SubClassOf 'Lens size anomaly' 'Weill-Marchesani syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Weill-Marchesani syndrome' SubClassOf 'autosomal genetic disease' 'Weill-Marchesani syndrome' SubClassOf 'syndromic disease' 'Weill-Marchesani syndrome' SubClassOf 'Rare disease with glaucoma as a major feature' 'Weill-Marchesani syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3448 Weaver-Williams syndrome 'Weaver-Williams syndrome' SubClassOf 'syndromic intellectual disability' 'Weaver-Williams syndrome' SubClassOf 'Orofacial clefting syndrome' 'Weaver-Williams syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Weaver-Williams syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Weaver-Williams syndrome' SubClassOf 'congenital nervous system disorder' 'Weaver-Williams syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3447 Weaver syndrome 'Weaver syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Weaver syndrome' SubClassOf 'syndromic intellectual disability' 'Weaver syndrome' SubClassOf 'congenital nervous system disorder' 'Weaver syndrome' SubClassOf 'Overgrowth syndrome' 'Weaver syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Weaver syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_238578 Familial clubfoot due to 17q23.1q23.2 microduplication 'Familial clubfoot due to 17q23.1q23.2 microduplication' SubClassOf 'Partial duplication of the long arm of chromosome 17' 'Familial clubfoot due to 17q23.1q23.2 microduplication' SubClassOf 'Familial clubfoot with or without associated lower limb anomalies' 'Familial clubfoot due to 17q23.1q23.2 microduplication' SubClassOf 'Partial duplication of the long arm of chromosome 17' 'Familial clubfoot due to 17q23.1q23.2 microduplication' SubClassOf 'Familial clubfoot with or without associated lower limb anomalies' http://www.orpha.net/ORDO/Orphanet_263534 Acral peeling skin syndrome 'Acral peeling skin syndrome' SubClassOf 'Peeling skin syndrome' 'Acral peeling skin syndrome' SubClassOf 'Peeling skin syndrome' http://www.ebi.ac.uk/efo/EFO_0009072 mbd5 associated neurodevelopmental disorder 'mbd5 associated neurodevelopmental disorder' SubClassOf 'Rare genetic neurological disorder' 'mbd5 associated neurodevelopmental disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.orpha.net/ORDO/Orphanet_3454 Intellectual disability-developmental delay-contractures syndrome 'Intellectual disability-developmental delay-contractures syndrome' SubClassOf 'neurodevelopmental disorder' 'Intellectual disability-developmental delay-contractures syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Intellectual disability-developmental delay-contractures syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Intellectual disability-developmental delay-contractures syndrome' SubClassOf 'congenital nervous system disorder' 'Intellectual disability-developmental delay-contractures syndrome' SubClassOf 'Wieacker-Wolff syndrome (spectrum)' 'Intellectual disability-developmental delay-contractures syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 'Intellectual disability-developmental delay-contractures syndrome' SubClassOf 'Arthrogryposis multiplex congenita' 'Intellectual disability-developmental delay-contractures syndrome' SubClassOf 'Genetic skeletal muscle disease' http://www.orpha.net/ORDO/Orphanet_3453 Autoimmune polyendocrinopathy type 1 'Autoimmune polyendocrinopathy type 1' SubClassOf 'autoimmune hypoparathyroidism' 'Autoimmune polyendocrinopathy type 1' SubClassOf 'Genetic hypoparathyroidism' 'Autoimmune polyendocrinopathy type 1' SubClassOf 'adrenal gland disease' 'Autoimmune polyendocrinopathy type 1' SubClassOf 'autoimmune polyendocrinopathy' 'Autoimmune polyendocrinopathy type 1' SubClassOf 'Genetic hypoparathyroidism' http://www.orpha.net/ORDO/Orphanet_3451 West syndrome 'West syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'West syndrome' SubClassOf 'Infantile epilepsy syndrome' 'West syndrome' SubClassOf 'syndromic intellectual disability' 'West syndrome' SubClassOf 'neonatal/infantile epilepsy syndrome' 'West syndrome' SubClassOf 'ARX-related epileptic encephalopathy' 'West syndrome' SubClassOf 'infancy electroclinical syndrome' 'West syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3450 Weissenbacher- Zweymuller syndrome 'Weissenbacher- Zweymuller syndrome' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Weissenbacher- Zweymuller syndrome' SubClassOf 'Orofacial clefting syndrome' 'Weissenbacher- Zweymuller syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Weissenbacher- Zweymuller syndrome' SubClassOf 'Type 11 collagen-related bone disorder' 'Weissenbacher- Zweymuller syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_263516 Progressive myoclonic epilepsy type 3 'Progressive myoclonic epilepsy type 3' SubClassOf 'Neuronal ceroid lipofuscinosis' 'Progressive myoclonic epilepsy type 3' SubClassOf 'Progressive myoclonic epilepsy' 'Progressive myoclonic epilepsy type 3' SubClassOf 'congenital nervous system disorder' 'Progressive myoclonic epilepsy type 3' SubClassOf 'Congenital disorder of glycosylation' 'Progressive myoclonic epilepsy type 3' SubClassOf 'Neuronal ceroid lipofuscinosis' 'Progressive myoclonic epilepsy type 3' SubClassOf 'Progressive myoclonic epilepsy' http://www.orpha.net/ORDO/Orphanet_3459 Wilson-Turner syndrome 'Wilson-Turner syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Wilson-Turner syndrome' SubClassOf 'Syndromic obesity' 'Wilson-Turner syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0011629 MOGS-CDG 'MOGS-CDG' SubClassOf 'congenital disorder of glycosylation type II' 'MOGS-CDG' SubClassOf 'Disorder of protein N-glycosylation' 'MOGS-CDG' SubClassOf 'Neurometabolic disease' 'MOGS-CDG' SubClassOf 'congenital disorder of glycosylation type II' 'MOGS-CDG' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017740 'MOGS-CDG' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019058 http://www.orpha.net/ORDO/Orphanet_3456 Wildervanck syndrome 'Wildervanck syndrome' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Wildervanck syndrome' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' 'Wildervanck syndrome' SubClassOf 'disease has feature' some 'Klippel-Feil syndrome' 'Wildervanck syndrome' SubClassOf 'Dysostosis of genetic origin' 'Wildervanck syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3455 Wiedemann-Rautenstrauch syndrome 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'progeria' 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'congenital nervous system disorder' 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'syndromic intellectual disability' 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'Genetic progeroid syndrome' 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'Genetic lipodystrophy' 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'Secondary ectropion' 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'Developmental anomaly of metabolic origin' 'Wiedemann-Rautenstrauch syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_238583 Hyperphenylalaninemia 'Hyperphenylalaninemia' SubClassOf 'autosomal recessive disease' 'Hyperphenylalaninemia' SubClassOf 'disease shares features of' some 'Phenylketonuria' 'Hyperphenylalaninemia' SubClassOf 'Disorder of pterin metabolism' 'Hyperphenylalaninemia' SubClassOf 'Disorder of pterin metabolism' http://www.ebi.ac.uk/efo/EFO_0009063 Wolfram-like syndrome 'Wolfram-like syndrome' SubClassOf 'Autosomal recessive syndromic optic atrophy' 'Wolfram-like syndrome' SubClassOf 'syndromic hereditary optic neuropathy' http://www.ebi.ac.uk/efo/EFO_0009064 X-linked erythropoietic protoporphyria 'X-linked erythropoietic protoporphyria' SubClassOf 'inherited porphyria' http://www.orpha.net/ORDO/Orphanet_3464 Woodhouse-Sakati syndrome 'Woodhouse-Sakati syndrome' SubClassOf 'Rare disorder with dystonia and other neurologic or systemic manifestation' 'Woodhouse-Sakati syndrome' SubClassOf 'syndromic intellectual disability' 'Woodhouse-Sakati syndrome' SubClassOf 'Neurodegeneration with brain iron accumulation' 'Woodhouse-Sakati syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Woodhouse-Sakati syndrome' SubClassOf 'Rare genetic diabetes mellitus' 'Woodhouse-Sakati syndrome' SubClassOf 'Rare disorder with hypogonadotropic hypogonadism' 'Woodhouse-Sakati syndrome' SubClassOf 'Congenital hypogonadotropic hypogonadism' 'Woodhouse-Sakati syndrome' SubClassOf 'Rare disorder with hypergonadotropic hypogonadism' 'Woodhouse-Sakati syndrome' SubClassOf 'Rare genetic dystonia' 'Woodhouse-Sakati syndrome' SubClassOf 'diabetes mellitus' 'Woodhouse-Sakati syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3463 Wolfram syndrome 'Wolfram syndrome' SubClassOf 'Autosomal recessive syndromic optic atrophy' 'Wolfram syndrome' SubClassOf 'Rare genetic diabetes mellitus' 'Wolfram syndrome' SubClassOf 'syndromic hereditary optic neuropathy' 'Wolfram syndrome' SubClassOf 'Syndromic genetic deafness' 'Wolfram syndrome' SubClassOf 'disease has feature' some 'type 1 diabetes mellitus' 'Wolfram syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_251523 Recurrent infections - inflammatory syndrome due to zinc metabolism disorder 'Recurrent infections - inflammatory syndrome due to zinc metabolism disorder' SubClassOf 'zinc, elevated plasma' 'Recurrent infections - inflammatory syndrome due to zinc metabolism disorder' SubClassOf 'Disorder of zinc metabolism' 'Recurrent infections - inflammatory syndrome due to zinc metabolism disorder' SubClassOf 'Disorder of zinc metabolism' http://www.orpha.net/ORDO/Orphanet_263508 COG1-CDG 'COG1-CDG' SubClassOf 'heart disease' 'COG1-CDG' SubClassOf 'Dysostosis of genetic origin' 'COG1-CDG' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' 'COG1-CDG' SubClassOf 'congenital disorder of glycosylation type II' 'COG1-CDG' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'COG1-CDG' SubClassOf 'congenital nervous system disorder' 'COG1-CDG' SubClassOf 'Defect in conserved oligomeric Golgi complex' 'COG1-CDG' SubClassOf 'Syndromic genetic deafness' 'COG1-CDG' SubClassOf 'Congenital disorder of glycosylation with cardiac malformation as a major feature' 'COG1-CDG' SubClassOf 'Congenital disorder of glycosylation-related bone disorder' 'COG1-CDG' SubClassOf 'Congenital disorder of glycosylation with deafness as a major feature' 'COG1-CDG' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3467 Hereditary xanthinuria 'Hereditary xanthinuria' SubClassOf 'Disorder of purine metabolism' 'Hereditary xanthinuria' SubClassOf 'xanthinuria' 'Hereditary xanthinuria' EquivalentTo 'xanthinuria' and ('has modifier' some 'inherited') 'Hereditary xanthinuria' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Hereditary xanthinuria' SubClassOf 'Disorder of purine metabolism' 'Hereditary xanthinuria' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' http://www.orpha.net/ORDO/Orphanet_84271 Sporadic idiopathic steroid-resistant nephrotic syndrome 'Sporadic idiopathic steroid-resistant nephrotic syndrome' SubClassOf 'steroid-resistant nephrotic syndrome' 'Sporadic idiopathic steroid-resistant nephrotic syndrome' SubClassOf 'idiopathic nephrotic syndrome' 'Sporadic idiopathic steroid-resistant nephrotic syndrome' SubClassOf 'Familial idiopathic steroid-resistant nephrotic syndrome' 'Sporadic idiopathic steroid-resistant nephrotic syndrome' SubClassOf 'Primary glomerular disease' http://www.orpha.net/ORDO/Orphanet_3466 WT limb-blood syndrome 'WT limb-blood syndrome' SubClassOf 'inherited aplastic anemia' 'WT limb-blood syndrome' SubClassOf 'Rare constitutional medullar aplasia' 'WT limb-blood syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_238557 Chuvash erythrocytosis 'Chuvash erythrocytosis' SubClassOf 'Genetic polycythemia' 'Chuvash erythrocytosis' SubClassOf 'Congenital secondary polycythemia' 'Chuvash erythrocytosis' SubClassOf 'Congenital secondary polycythemia' http://www.orpha.net/ORDO/Orphanet_251515 Distal arthrogryposis type 10 'Distal arthrogryposis type 10' SubClassOf 'Distal arthrogryposis' 'Distal arthrogryposis type 10' SubClassOf 'Distal arthrogryposis' http://www.orpha.net/ORDO/Orphanet_3474 CHIME syndrome 'CHIME syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'CHIME syndrome' SubClassOf 'Rare syndromic dyslipidemia' 'CHIME syndrome' SubClassOf 'congenital nervous system disorder' 'CHIME syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'CHIME syndrome' SubClassOf 'Rare eye disease due to a differentiation anomaly' 'CHIME syndrome' SubClassOf 'Genetic developmental defect of the eye' 'CHIME syndrome' SubClassOf 'Congenital disorder of glycosylation with skin involvement' 'CHIME syndrome' SubClassOf 'heart disease' 'CHIME syndrome' SubClassOf 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' 'CHIME syndrome' SubClassOf 'Syndromic genetic deafness' 'CHIME syndrome' SubClassOf 'Congenital disorder of glycosylation with cardiac malformation as a major feature' 'CHIME syndrome' SubClassOf 'Congenital disorder of glycosylation with deafness as a major feature' 'CHIME syndrome' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'CHIME syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'CHIME syndrome' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'CHIME syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3473 Zimmermann-Laband syndrome 'Zimmermann-Laband syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Zimmermann-Laband syndrome' SubClassOf 'genetic disorder' 'Zimmermann-Laband syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Zimmermann-Laband syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Zimmermann-Laband syndrome' SubClassOf 'has modifier' some 'rare' 'Zimmermann-Laband syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3472 Yunis-Varon syndrome 'Yunis-Varon syndrome' SubClassOf 'Cleidocranial dysplasia and isolated cranial ossification defect' 'Yunis-Varon syndrome' SubClassOf 'syndromic disease' 'Yunis-Varon syndrome' SubClassOf 'Primary bone dysplasia' 'Yunis-Varon syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3471 Young syndrome 'Young syndrome' SubClassOf 'Rare genetic respiratory disease' 'Young syndrome' SubClassOf 'has modifier' some 'rare' 'Young syndrome' SubClassOf 'Rare genetic disorder with obstructive azoospermia' 'Young syndrome' SubClassOf 'male infertility' 'Young syndrome' SubClassOf 'respiratory system disease' 'Young syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_263501 COG4-CDG 'COG4-CDG' SubClassOf 'congenital disorder of glycosylation type II' 'COG4-CDG' SubClassOf 'Defect in conserved oligomeric Golgi complex' 'COG4-CDG' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'COG4-CDG' SubClassOf 'Congenital disorder of glycosylation with hepatic involvement' 'COG4-CDG' SubClassOf 'congenital nervous system disorder' 'COG4-CDG' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'COG4-CDG' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_238569 Autosomal recessive early-onset inflammatory bowel disease 'Autosomal recessive early-onset inflammatory bowel disease' SubClassOf 'immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome' 'Autosomal recessive early-onset inflammatory bowel disease' SubClassOf 'inflammatory bowel disease' http://www.orpha.net/ORDO/Orphanet_3406 Ulerythema ophryogenesis 'Ulerythema ophryogenesis' SubClassOf 'Keratosis pilaris atrophicans' 'Ulerythema ophryogenesis' SubClassOf 'Keratosis pilaris atrophicans' http://www.orpha.net/ORDO/Orphanet_3405 Umbilical cord ulceration - intestinal atresia 'Umbilical cord ulceration - intestinal atresia' SubClassOf 'Syndromic intestinal malformation' 'Umbilical cord ulceration - intestinal atresia' SubClassOf 'Syndromic intestinal malformation' http://www.orpha.net/ORDO/Orphanet_3404 Ulbright-Hodes syndrome 'Ulbright-Hodes syndrome' SubClassOf 'syndromic intellectual disability' 'Ulbright-Hodes syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Ulbright-Hodes syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Ulbright-Hodes syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'Ulbright-Hodes syndrome' SubClassOf 'congenital nervous system disorder' 'Ulbright-Hodes syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Ulbright-Hodes syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3402 Transient tyrosinemia of the newborn 'Transient tyrosinemia of the newborn' SubClassOf 'Disorder of tyrosine metabolism' 'Transient tyrosinemia of the newborn' SubClassOf 'Disorder of tyrosine metabolism' http://www.orpha.net/ORDO/Orphanet_263558 Generalized peeling skin syndrome type C 'Generalized peeling skin syndrome type C' SubClassOf 'Generalized peeling skin syndrome' 'Generalized peeling skin syndrome type C' SubClassOf 'Generalized peeling skin syndrome' http://www.orpha.net/ORDO/Orphanet_3417 Van den Bosch syndrome 'Van den Bosch syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Van den Bosch syndrome' SubClassOf 'acrokeratoderma' 'Van den Bosch syndrome' SubClassOf 'genetic skin disease' 'Van den Bosch syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 http://purl.obolibrary.org/obo/MONDO_0011667 maturity-onset diabetes of the young type 4 'maturity-onset diabetes of the young type 4' SubClassOf 'MODY' 'maturity-onset diabetes of the young type 4' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019052 'maturity-onset diabetes of the young type 4' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018911 http://www.orpha.net/ORDO/Orphanet_3416 Hyperostosis corticalis generalisata 'Hyperostosis corticalis generalisata' SubClassOf 'hyperostosis' http://purl.obolibrary.org/obo/MONDO_0011668 maturity-onset diabetes of the young type 6 'maturity-onset diabetes of the young type 6' SubClassOf 'MODY' 'maturity-onset diabetes of the young type 6' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018911 'maturity-onset diabetes of the young type 6' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019052 http://www.orpha.net/ORDO/Orphanet_275543 L1 syndrome 'L1 syndrome' SubClassOf 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' 'L1 syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'L1 syndrome' SubClassOf 'disorder of development or morphogenesis' 'L1 syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3412 VACTERL with hydrocephalus 'VACTERL with hydrocephalus' SubClassOf 'Syndromic anorectal malformation' 'VACTERL with hydrocephalus' SubClassOf 'congenital nervous system disorder' 'VACTERL with hydrocephalus' SubClassOf 'disease shares features of' some 'VACTERL/VATER association' 'VACTERL with hydrocephalus' SubClassOf 'X-linked syndromic intellectual disability' 'VACTERL with hydrocephalus' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'VACTERL with hydrocephalus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3411 Double uterus - hemivagina - renal agenesis 'Double uterus - hemivagina - renal agenesis' SubClassOf 'Syndromic urogenital tract malformation' 'Double uterus - hemivagina - renal agenesis' SubClassOf 'syndromic uterovaginal malformation' 'Double uterus - hemivagina - renal agenesis' SubClassOf 'Syndromic renal or urinary tract malformation' 'Double uterus - hemivagina - renal agenesis' SubClassOf 'Syndromic urogenital tract malformation' 'Double uterus - hemivagina - renal agenesis' SubClassOf 'Syndromic renal or urinary tract malformation' http://www.orpha.net/ORDO/Orphanet_3409 Urban-Rogers-Meyer syndrome 'Urban-Rogers-Meyer syndrome' SubClassOf 'syndromic intellectual disability' 'Urban-Rogers-Meyer syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Urban-Rogers-Meyer syndrome' SubClassOf 'congenital nervous system disorder' 'Urban-Rogers-Meyer syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_3408 Upington disease 'Upington disease' SubClassOf 'genetic disorder' 'Upington disease' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Upington disease' SubClassOf 'musculoskeletal system disease' 'Upington disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0021002 syndactyly 'syndactyly' SubClassOf 'Dysostosis of genetic origin' 'syndactyly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018454 http://purl.obolibrary.org/obo/MONDO_0021003 polydactyly 'polydactyly' SubClassOf 'Dysostosis of genetic origin' 'polydactyly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018454 http://purl.obolibrary.org/obo/MONDO_0021004 brachydactyly 'brachydactyly' SubClassOf 'Dysostosis of genetic origin' 'brachydactyly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018454 http://purl.obolibrary.org/obo/MONDO_0021005 faciodigitogenital syndrome 'faciodigitogenital syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'faciodigitogenital syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015620 http://www.orpha.net/ORDO/Orphanet_3429 Verloove Vanhorick-Brubakk syndrome 'Verloove Vanhorick-Brubakk syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Verloove Vanhorick-Brubakk syndrome' SubClassOf 'Orofacial clefting syndrome' 'Verloove Vanhorick-Brubakk syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_263548 Peeling skin syndrome type A 'Peeling skin syndrome type A' SubClassOf 'Generalized peeling skin syndrome' 'Peeling skin syndrome type A' SubClassOf 'Generalized peeling skin syndrome' http://www.orpha.net/ORDO/Orphanet_275534 Myostatin-related muscle hypertrophy 'Myostatin-related muscle hypertrophy' SubClassOf 'genetic disorder' 'Myostatin-related muscle hypertrophy' SubClassOf 'muscle tissue disorder' 'Myostatin-related muscle hypertrophy' SubClassOf 'disease has feature' some 'Myostatin-related muscle hypertrophy' 'Myostatin-related muscle hypertrophy' SubClassOf 'genetic disorder' 'Myostatin-related muscle hypertrophy' SubClassOf 'muscular disease' http://purl.obolibrary.org/obo/MONDO_0011679 craniosynostosis syndrome, autosomal recessive 'craniosynostosis syndrome, autosomal recessive' SubClassOf 'Craniosynostosis' 'craniosynostosis syndrome, autosomal recessive' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015469 http://www.orpha.net/ORDO/Orphanet_3426 Double outlet right ventricle 'Double outlet right ventricle' SubClassOf 'Genetic cardiac anomaly' 'Double outlet right ventricle' SubClassOf 'Conotruncal heart malformations' 'Double outlet right ventricle' SubClassOf 'Ventricular septal defect' 'Double outlet right ventricle' SubClassOf 'Genetic cardiac anomaly' http://www.orpha.net/ORDO/Orphanet_3424 Velo-facial-skeletal syndrome 'Velo-facial-skeletal syndrome' SubClassOf 'Orofacial clefting syndrome' 'Velo-facial-skeletal syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Velo-facial-skeletal syndrome' SubClassOf 'Orofacial clefting syndrome' 'Velo-facial-skeletal syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_96263 48,XXXY syndrome '48,XXXY syndrome' SubClassOf 'X chromosome number anomaly' '48,XXXY syndrome' SubClassOf 'Male infertility due to gonadal dysgenesis' '48,XXXY syndrome' SubClassOf 'chromosome X disorder' '48,XXXY syndrome' SubClassOf 'Sex chromosome disorder of sex development' '48,XXXY syndrome' SubClassOf 'male infertility' '48,XXXY syndrome' SubClassOf 'syndromic intellectual disability' '48,XXXY syndrome' SubClassOf 'Syndromic urogenital tract malformation' '48,XXXY syndrome' SubClassOf 'tetrasomy' '48,XXXY syndrome' SubClassOf 'Rare genetic neurological disorder' '48,XXXY syndrome' SubClassOf 'X chromosome number anomaly with male phenotype' '48,XXXY syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96264 49,XXXXY syndrome '49,XXXXY syndrome' SubClassOf 'Rare genetic neurological disorder' '49,XXXXY syndrome' SubClassOf 'pentasomy' '49,XXXXY syndrome' SubClassOf 'X chromosome number anomaly with male phenotype' '49,XXXXY syndrome' SubClassOf 'X chromosome number anomaly' '49,XXXXY syndrome' SubClassOf 'Syndromic urogenital tract malformation' '49,XXXXY syndrome' SubClassOf 'chromosome X disorder' '49,XXXXY syndrome' SubClassOf 'Male infertility due to gonadal dysgenesis' '49,XXXXY syndrome' SubClassOf 'male infertility' '49,XXXXY syndrome' SubClassOf 'Sex chromosome disorder of sex development' '49,XXXXY syndrome' SubClassOf 'syndromic intellectual disability' '49,XXXXY syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_263553 Peeling skin syndrome type B 'Peeling skin syndrome type B' SubClassOf 'Generalized peeling skin syndrome' 'Peeling skin syndrome type B' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96265 Leydig cell hypoplasia due to complete LH resistance 'Leydig cell hypoplasia due to complete LH resistance' SubClassOf 'Leydig cell hypoplasia, type 1' 'Leydig cell hypoplasia due to complete LH resistance' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96266 Leydig cell hypoplasia due to partial LH resistance 'Leydig cell hypoplasia due to partial LH resistance' SubClassOf 'Leydig cell hypoplasia, type 1' 'Leydig cell hypoplasia due to partial LH resistance' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0021009 salivary gland mucoepidermoid carcinoma 'salivary gland mucoepidermoid carcinoma' SubClassOf 'salivary gland carcinoma' 'salivary gland mucoepidermoid carcinoma' SubClassOf 'salivary gland carcinoma' http://www.orpha.net/ORDO/Orphanet_3439 Von Voss-Cherstvoy syndrome 'Von Voss-Cherstvoy syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Von Voss-Cherstvoy syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_275523 Dianzani autoimmune lymphoproliferative disease 'Dianzani autoimmune lymphoproliferative disease' SubClassOf 'Lymphoproliferative syndrome' 'Dianzani autoimmune lymphoproliferative disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3437 Vogt-Koyanagi-Harada disease 'Vogt-Koyanagi-Harada disease' SubClassOf 'Eyebrow/eyelashes pigmentation anomaly' 'Vogt-Koyanagi-Harada disease' SubClassOf 'genetic skin disease' 'Vogt-Koyanagi-Harada disease' SubClassOf 'syndromic disease' 'Vogt-Koyanagi-Harada disease' SubClassOf 'panuveitis' 'Vogt-Koyanagi-Harada disease' SubClassOf 'type II hypersensitivity reaction disease' 'Vogt-Koyanagi-Harada disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3434 MMEP syndrome 'MMEP syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'MMEP syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'MMEP syndrome' SubClassOf 'syndromic intellectual disability' 'MMEP syndrome' SubClassOf 'Syndromic microphthalmia' 'MMEP syndrome' SubClassOf 'congenital nervous system disorder' 'MMEP syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3433 Microcephaly - brachydactyly - kyphoscoliosis 'Microcephaly - brachydactyly - kyphoscoliosis' SubClassOf 'congenital nervous system disorder' 'Microcephaly - brachydactyly - kyphoscoliosis' SubClassOf 'syndromic intellectual disability' 'Microcephaly - brachydactyly - kyphoscoliosis' SubClassOf 'congenital limb malformation' 'Microcephaly - brachydactyly - kyphoscoliosis' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Microcephaly - brachydactyly - kyphoscoliosis' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_263543 Generalized peeling skin syndrome 'Generalized peeling skin syndrome' SubClassOf 'Peeling skin syndrome' 'Generalized peeling skin syndrome' SubClassOf 'Peeling skin syndrome' http://www.orpha.net/ORDO/Orphanet_275517 Autoimmune lymphoproliferative syndrome with recurrent viral infections 'Autoimmune lymphoproliferative syndrome with recurrent viral infections' SubClassOf 'Autoimmune lymphoproliferative syndrome' 'Autoimmune lymphoproliferative syndrome with recurrent viral infections' SubClassOf 'Lymphoproliferative syndrome' 'Autoimmune lymphoproliferative syndrome with recurrent viral infections' SubClassOf 'Immunodeficiency syndrome with autoimmunity' http://purl.obolibrary.org/obo/MONDO_0021024 malaria, susceptibility to 'malaria, susceptibility to' SubClassOf 'Genetic susceptibility to infections due to particular pathogens' 'malaria, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015979 http://purl.obolibrary.org/obo/MONDO_0033006 Galloway-Mowat syndrome 2, X-linked 'Galloway-Mowat syndrome 2, X-linked' SubClassOf 'Galloway-Mowat syndrome' 'Galloway-Mowat syndrome 2, X-linked' SubClassOf http://purl.obolibrary.org/obo/MONDO_0009627 http://purl.obolibrary.org/obo/MONDO_0008057 Carney complex, type 1 'Carney complex, type 1' SubClassOf 'Carney complex' 'Carney complex, type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015285 http://purl.obolibrary.org/obo/MONDO_0060622 neurodevelopmental disorder with severe motor impairment and absent language 'neurodevelopmental disorder with severe motor impairment and absent language' SubClassOf 'Rare genetic neurological disorder' 'neurodevelopmental disorder with severe motor impairment and absent language' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://purl.obolibrary.org/obo/MONDO_0045008 cholesterol metabolism disease 'cholesterol metabolism disease' SubClassOf 'Sterol metabolism disorder' 'cholesterol metabolism disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019256 http://purl.obolibrary.org/obo/MONDO_0060624 neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 'neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter' SubClassOf 'Rare genetic neurological disorder' 'neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.orpha.net/ORDO/Orphanet_238505 Autosomal recessive lymphoproliferative disease 'Autosomal recessive lymphoproliferative disease' SubClassOf 'non-SCID combined immunodeficiency' 'Autosomal recessive lymphoproliferative disease' SubClassOf 'Lymphoproliferative syndrome' 'Autosomal recessive lymphoproliferative disease' SubClassOf 'Lymphoproliferative syndrome' http://purl.obolibrary.org/obo/MONDO_0060627 glycosylphosphatidylinositol biosynthesis defect 15 'glycosylphosphatidylinositol biosynthesis defect 15' SubClassOf 'Congenital disorder of glycosylation' 'glycosylphosphatidylinositol biosynthesis defect 15' SubClassOf 'disorder of GPI anchor biosynthesis' 'glycosylphosphatidylinositol biosynthesis defect 15' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'glycosylphosphatidylinositol biosynthesis defect 15' SubClassOf 'Developmental anomaly of metabolic origin' 'glycosylphosphatidylinositol biosynthesis defect 15' SubClassOf 'Rare genetic neurological disorder' 'glycosylphosphatidylinositol biosynthesis defect 15' SubClassOf 'Disorder of lipid metabolism' 'glycosylphosphatidylinositol biosynthesis defect 15' SubClassOf 'disorder of GPI anchor biosynthesis' 'glycosylphosphatidylinositol biosynthesis defect 15' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002525 'glycosylphosphatidylinositol biosynthesis defect 15' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015327 'glycosylphosphatidylinositol biosynthesis defect 15' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015159 'glycosylphosphatidylinositol biosynthesis defect 15' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 'glycosylphosphatidylinositol biosynthesis defect 15' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043005 'glycosylphosphatidylinositol biosynthesis defect 15' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015286 http://purl.obolibrary.org/obo/MONDO_0021043 mixed neoplasm 'mixed neoplasm' SubClassOf 'neoplasm' 'mixed neoplasm' SubClassOf 'neoplasm' http://www.orpha.net/ORDO/Orphanet_309796 Rhizomelic chondrodysplasia punctata type 2 'Rhizomelic chondrodysplasia punctata type 2' SubClassOf 'glyceronephosphate O-acyltransferase deficiency' 'Rhizomelic chondrodysplasia punctata type 2' SubClassOf 'Rhizomelic chondrodysplasia punctata' 'Rhizomelic chondrodysplasia punctata type 2' SubClassOf 'Rhizomelic chondrodysplasia punctata' http://purl.obolibrary.org/obo/MONDO_0021041 pleural solitary fibrous tumor 'pleural solitary fibrous tumor' SubClassOf 'pleural neoplasm' 'pleural solitary fibrous tumor' SubClassOf 'solitary fibrous tumor' 'pleural solitary fibrous tumor' SubClassOf 'pleural neoplasm' 'pleural solitary fibrous tumor' SubClassOf 'solitary fibrous tumor' http://www.orpha.net/ORDO/Orphanet_307141 Diffuse palmoplantar keratoderma 'Diffuse palmoplantar keratoderma' SubClassOf 'Hereditary palmoplantar keratoderma' 'Diffuse palmoplantar keratoderma' SubClassOf 'Hereditary palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0021034 genetic alopecia 'genetic alopecia' SubClassOf 'Genetic hair anomaly' 'genetic alopecia' SubClassOf 'Alopecia' 'genetic alopecia' EquivalentTo 'Alopecia' and ('has modifier' some 'inherited') 'genetic alopecia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021027 'genetic alopecia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004907 'genetic alopecia' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0004907 and ('has modifier' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0023692 maple syrup urine disease type 1B 'maple syrup urine disease type 1B' SubClassOf 'Maple syrup urine disease' 'maple syrup urine disease type 1B' SubClassOf http://purl.obolibrary.org/obo/MONDO_0009563 http://purl.obolibrary.org/obo/MONDO_0023691 maple syrup urine disease type 1A 'maple syrup urine disease type 1A' SubClassOf 'Maple syrup urine disease' 'maple syrup urine disease type 1A' SubClassOf http://purl.obolibrary.org/obo/MONDO_0009563 http://www.orpha.net/ORDO/Orphanet_307148 Isolated diffuse palmoplantar keratoderma 'Isolated diffuse palmoplantar keratoderma' SubClassOf 'Diffuse palmoplantar keratoderma' 'Isolated diffuse palmoplantar keratoderma' SubClassOf 'has modifier' some 'has an isolated presentation' 'Isolated diffuse palmoplantar keratoderma' EquivalentTo 'Diffuse palmoplantar keratoderma' and ('has modifier' some 'has an isolated presentation') 'Isolated diffuse palmoplantar keratoderma' SubClassOf 'Diffuse palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0033014 erythrokeratodermia variabilis et progressiva 4 'erythrokeratodermia variabilis et progressiva 4' SubClassOf 'Erythrokeratodermia variabilis' 'erythrokeratodermia variabilis et progressiva 4' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017851 http://purl.obolibrary.org/obo/MONDO_0021064 jugulotympanic paraganglioma 'jugulotympanic paraganglioma' SubClassOf 'parasympathetic paraganglioma' 'jugulotympanic paraganglioma' SubClassOf 'parasympathetic paraganglioma' http://purl.obolibrary.org/obo/MONDO_0021066 urinary system neoplasm 'urinary system neoplasm' SubClassOf 'neoplasm' 'urinary system neoplasm' SubClassOf 'neoplasm' http://purl.obolibrary.org/obo/MONDO_0021069 malignant endocrine neoplasm 'malignant endocrine neoplasm' SubClassOf 'endocrine neoplasm' 'malignant endocrine neoplasm' SubClassOf 'endocrine neoplasm' http://www.orpha.net/ORDO/Orphanet_141136 Hemifacial microsomia 'Hemifacial microsomia' SubClassOf 'Oculo-auriculo-vertebral spectrum' 'Hemifacial microsomia' SubClassOf 'Oculo-auriculo-vertebral spectrum' http://purl.obolibrary.org/obo/MONDO_0021063 malignant colon neoplasm 'malignant colon neoplasm' SubClassOf 'colorectal cancer' 'malignant colon neoplasm' SubClassOf 'colorectal cancer' http://www.orpha.net/ORDO/Orphanet_141132 Oculo-auriculo-vertebral spectrum 'Oculo-auriculo-vertebral spectrum' SubClassOf 'Oculoauriculovertebral spectrum with radial defects' 'Oculo-auriculo-vertebral spectrum' SubClassOf 'neurocristopathy' 'Oculo-auriculo-vertebral spectrum' SubClassOf 'Otomandibular dysplasia' 'Oculo-auriculo-vertebral spectrum' SubClassOf 'syndromic disease' 'Oculo-auriculo-vertebral spectrum' SubClassOf 'Otomandibular dysplasia' http://purl.obolibrary.org/obo/MONDO_0008093 nevus, epidermal 'nevus, epidermal' SubClassOf 'Genetic skin tumor' 'nevus, epidermal' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015950 http://www.orpha.net/ORDO/Orphanet_167759 Hereditary dentin defect 'Hereditary dentin defect' SubClassOf 'tooth disease' http://www.orpha.net/ORDO/Orphanet_238536 Congenital secondary polycythemia 'Congenital secondary polycythemia' SubClassOf 'Secondary polycythemia' 'Congenital secondary polycythemia' SubClassOf 'congenital hematological disorder' 'Congenital secondary polycythemia' SubClassOf 'Secondary polycythemia' http://www.orpha.net/ORDO/Orphanet_309778 Defect in V-ATPase 'Defect in V-ATPase' SubClassOf 'Disorder of multiple glycosylation' 'Defect in V-ATPase' SubClassOf 'Disorder of multiple glycosylation' http://www.orpha.net/ORDO/Orphanet_25968 Benign occipital epilepsy 'Benign occipital epilepsy' SubClassOf 'Childhood-onset epilepsy syndrome' 'Benign occipital epilepsy' SubClassOf 'Childhood-onset epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0033043 spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 'spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy' SubClassOf 'Leukodystrophy' 'spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy' SubClassOf 'Autosomal recessive spastic ataxia' 'spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019046 'spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017847 http://purl.obolibrary.org/obo/MONDO_0021057 classic or attenuated familial adenomatous polyposis 'classic or attenuated familial adenomatous polyposis' SubClassOf 'Genetic digestive tract tumor' 'classic or attenuated familial adenomatous polyposis' SubClassOf 'Genetic intestinal polyposis' 'classic or attenuated familial adenomatous polyposis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017128 'classic or attenuated familial adenomatous polyposis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018188 http://www.orpha.net/ORDO/Orphanet_251510 46,XY partial gonadal dysgenesis '46,XY partial gonadal dysgenesis' SubClassOf 'female infertility' '46,XY partial gonadal dysgenesis' SubClassOf '46,XY disorder of gonadal development' '46,XY partial gonadal dysgenesis' SubClassOf 'Female infertility due to gonadal dysgenesis' '46,XY partial gonadal dysgenesis' SubClassOf 'Male infertility due to gonadal dysgenesis' '46,XY partial gonadal dysgenesis' SubClassOf 'male infertility' '46,XY partial gonadal dysgenesis' SubClassOf 'Gonadal dysgenesis of gynecological interest' '46,XY partial gonadal dysgenesis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0021058 neoplastic syndrome 'neoplastic syndrome' SubClassOf 'syndromic disease' 'neoplastic syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0045046 inherited thyroid metabolism disease 'inherited thyroid metabolism disease' SubClassOf 'Inborn errors of metabolism' 'inherited thyroid metabolism disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019052 http://www.orpha.net/ORDO/Orphanet_141145 Hemifacial hypertrophy 'Hemifacial hypertrophy' SubClassOf 'Overgrowth syndrome' http://purl.obolibrary.org/obo/MONDO_0060664 neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities 'neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities' SubClassOf 'Rare genetic neurological disorder' 'neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.orpha.net/ORDO/Orphanet_309789 Rhizomelic chondrodysplasia punctata type 1 'Rhizomelic chondrodysplasia punctata type 1' SubClassOf 'Rhizomelic chondrodysplasia punctata' 'Rhizomelic chondrodysplasia punctata type 1' SubClassOf 'eye degenerative disorder' 'Rhizomelic chondrodysplasia punctata type 1' SubClassOf 'peroxisome biogenesis disorder due to PEX7 defect' 'Rhizomelic chondrodysplasia punctata type 1' SubClassOf 'Rhizomelic chondrodysplasia punctata' http://www.orpha.net/ORDO/Orphanet_177107 Syndromic hypothyroidism 'Syndromic hypothyroidism' SubClassOf 'syndromic disease' 'Syndromic hypothyroidism' EquivalentTo 'hypothyroidism' and ('has modifier' some 'has a syndromic presentation') 'Syndromic hypothyroidism' SubClassOf 'Permanent congenital hypothyroidism' 'Syndromic hypothyroidism' SubClassOf 'Permanent congenital hypothyroidism' http://purl.obolibrary.org/obo/MONDO_0045010 glycoprotein metabolism disease 'glycoprotein metabolism disease' SubClassOf 'Inborn errors of metabolism' 'glycoprotein metabolism disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019052 http://www.orpha.net/ORDO/Orphanet_141152 Isolated congenital hypoglossia/aglossia 'Isolated congenital hypoglossia/aglossia' SubClassOf 'has modifier' some 'congenital' 'Isolated congenital hypoglossia/aglossia' SubClassOf 'Hypoglossia/aglossia' 'Isolated congenital hypoglossia/aglossia' SubClassOf 'Hypoglossia/aglossia' http://purl.obolibrary.org/obo/MONDO_0021089 peripheral nervous system cancer 'peripheral nervous system cancer' SubClassOf 'tumour of cranial and spinal nerves' 'peripheral nervous system cancer' SubClassOf 'nervous system cancer' 'peripheral nervous system cancer' SubClassOf 'tumour of cranial and spinal nerves' 'peripheral nervous system cancer' SubClassOf 'nervous system cancer' http://purl.obolibrary.org/obo/MONDO_0045017 cholesterol biosynthetic process disease 'cholesterol biosynthetic process disease' SubClassOf 'Sterol biosynthesis disorder' 'cholesterol biosynthetic process disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019240 http://purl.obolibrary.org/obo/MONDO_0045014 tetrahydrobiopterin metabolic process disease 'tetrahydrobiopterin metabolic process disease' SubClassOf 'Disorder of phenylalanine metabolism' 'tetrahydrobiopterin metabolic process disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017306 http://purl.obolibrary.org/obo/MONDO_0060650 Leber congenital amaurosis with early-onset deafness 'Leber congenital amaurosis with early-onset deafness' SubClassOf 'Leber congenital amaurosis' 'Leber congenital amaurosis with early-onset deafness' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018998 http://www.orpha.net/ORDO/Orphanet_25980 X-linked myopathy with excessive autophagy 'X-linked myopathy with excessive autophagy' SubClassOf 'Inclusion myopathy' 'X-linked myopathy with excessive autophagy' SubClassOf 'Progressive muscular dystrophy' 'X-linked myopathy with excessive autophagy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_238510 Lymphoproliferative syndrome 'Lymphoproliferative syndrome' SubClassOf 'primary immunodeficiency disease' 'Lymphoproliferative syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' 'Lymphoproliferative syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' http://www.orpha.net/ORDO/Orphanet_238517 Hypotonia - cystinuria type 1 'Hypotonia - cystinuria type 1' SubClassOf 'Partial deletion of the short arm of chromosome 2' 'Hypotonia - cystinuria type 1' SubClassOf 'Partial deletion of the long arm of chromosome 2' 'Hypotonia - cystinuria type 1' SubClassOf 'Homozygous 2p21 microdeletion syndrome' http://www.orpha.net/ORDO/Orphanet_141163 Glossopalatine ankylosis 'Glossopalatine ankylosis' SubClassOf 'Oromandibular-limb hypogenesis syndrome' 'Glossopalatine ankylosis' SubClassOf 'Oromandibular-limb hypogenesis syndrome' http://purl.obolibrary.org/obo/MONDO_0021077 cystic neoplasm 'cystic neoplasm' SubClassOf 'neoplasm' 'cystic neoplasm' SubClassOf 'neoplasm' http://purl.obolibrary.org/obo/MONDO_0021079 childhood neoplasm 'childhood neoplasm' SubClassOf 'neoplasm' 'childhood neoplasm' SubClassOf 'neoplasm' http://purl.obolibrary.org/obo/MONDO_0021073 paraneoplastic syndrome 'paraneoplastic syndrome' SubClassOf 'syndromic disease' 'paraneoplastic syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0045023 acquired adrenogenital syndrome 'acquired adrenogenital syndrome' EquivalentTo 'Adrenogenital syndrome' and ('has modifier' some 'acquired') 'acquired adrenogenital syndrome' SubClassOf 'Adrenogenital syndrome' 'acquired adrenogenital syndrome' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0015898 and ('has modifier' some 'acquired') 'acquired adrenogenital syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015898 http://purl.obolibrary.org/obo/MONDO_0060640 neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy 'neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy' SubClassOf 'Rare genetic neurological disorder' 'neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://purl.obolibrary.org/obo/MONDO_0060641 neurodevelopmental disorder with or without seizures and gait abnormalities 'neurodevelopmental disorder with or without seizures and gait abnormalities' SubClassOf 'Rare genetic neurological disorder' 'neurodevelopmental disorder with or without seizures and gait abnormalities' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://purl.obolibrary.org/obo/MONDO_0060642 neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features 'neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features' SubClassOf 'Rare genetic neurological disorder' 'neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.orpha.net/ORDO/Orphanet_238523 Atypical hypotonia - cystinuria syndrome 'Atypical hypotonia - cystinuria syndrome' SubClassOf 'Hypotonia - cystinuria syndrome' 'Atypical hypotonia - cystinuria syndrome' SubClassOf 'Hypotonia - cystinuria type 1' http://www.orpha.net/ORDO/Orphanet_397946 Autosomal recessive spastic paraplegia type 58 'Autosomal recessive spastic paraplegia type 58' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 58' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_397951 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 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Microcephaly-thin corpus callosum-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'Microcephaly-thin corpus callosum-intellectual disability syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_397959 TCR-alpha-beta-positive T-cell deficiency 'TCR-alpha-beta-positive T-cell deficiency' SubClassOf 'Immunodeficiency syndrome with autoimmunity' 'TCR-alpha-beta-positive T-cell deficiency' SubClassOf 'non-SCID combined immunodeficiency' 'TCR-alpha-beta-positive T-cell deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_202940 Anomaly of puberty or/and menstrual cycle of genetic origin 'Anomaly of puberty or/and menstrual cycle of genetic origin' SubClassOf 'anomaly of puberty or/and menstrual cycle' 'Anomaly of puberty or/and menstrual cycle of genetic origin' EquivalentTo 'anomaly of puberty or/and menstrual cycle' and ('has modifier' some 'inherited') 'Anomaly of puberty or/and menstrual cycle of genetic origin' SubClassOf 'has modifier' some 'rare' 'Anomaly of puberty or/and menstrual cycle of genetic origin' SubClassOf 'Rare genetic gynecological and obstetrical diseases' 'Anomaly of puberty or/and menstrual cycle of genetic origin' SubClassOf 'female reproductive system disease' http://www.orpha.net/ORDO/Orphanet_397964 Combined immunodeficiency due to MALT1 deficiency 'Combined immunodeficiency due to MALT1 deficiency' SubClassOf 'non-SCID combined immunodeficiency' 'Combined immunodeficiency due to MALT1 deficiency' SubClassOf 'Combined T and B cell immunodeficiency' http://www.orpha.net/ORDO/Orphanet_397927 Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome 'Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome' SubClassOf 'Neural tube defect' http://www.orpha.net/ORDO/Orphanet_202948 Syndromic microphthalmia 'Syndromic microphthalmia' SubClassOf 'syndromic disease' 'Syndromic microphthalmia' SubClassOf 'Anophthalmia - microphthalmia' 'Syndromic microphthalmia' SubClassOf 'anophthalmia-microphthalmia syndrome' 'Syndromic microphthalmia' SubClassOf 'microphthalmia' 'Syndromic microphthalmia' EquivalentTo 'microphthalmia' and ('has modifier' some 'has a syndromic presentation') 'Syndromic microphthalmia' SubClassOf 'anophthalmia-microphthalmia syndrome' http://www.orpha.net/ORDO/Orphanet_397933 Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome 'Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 http://www.orpha.net/ORDO/Orphanet_397937 Polyglucosan body myopathy 'Polyglucosan body myopathy' SubClassOf 'myopathy' http://www.orpha.net/ORDO/Orphanet_397941 MAN1B1-CDG 'MAN1B1-CDG' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'MAN1B1-CDG' SubClassOf 'Disorder of protein N-glycosylation' 'MAN1B1-CDG' SubClassOf 'congenital nervous system disorder' 'MAN1B1-CDG' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_371364 Hypotonia-speech impairment-severe cognitive delay syndrome 'Hypotonia-speech impairment-severe cognitive delay syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Hypotonia-speech impairment-severe cognitive delay syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Hypotonia-speech impairment-severe cognitive delay syndrome' SubClassOf 'Genetic neurodegenerative disease' 'Hypotonia-speech impairment-severe cognitive delay syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0009441 Waldenstrom macroglobulinemia 'Waldenstrom macroglobulinemia' SubClassOf 'Inborn errors of metabolism' 'Waldenstrom macroglobulinemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019052 http://www.orpha.net/ORDO/Orphanet_397968 Charcot-Marie-Tooth disease type 2R 'Charcot-Marie-Tooth disease type 2R' SubClassOf 'Autosomal recessive axonal Charcot-Marie-Tooth disease type 2' 'Charcot-Marie-Tooth disease type 2R' SubClassOf 'autosomal recessive axonal hereditary motor and sensory neuropathy' 'Charcot-Marie-Tooth disease type 2R' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'Charcot-Marie-Tooth disease type 2R' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0060490 neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies 'neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies' SubClassOf 'Rare genetic neurological disorder' 'neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://purl.obolibrary.org/obo/MONDO_0060491 neurodevelopmental disorder with involuntary movements 'neurodevelopmental disorder with involuntary movements' SubClassOf 'Rare genetic neurological disorder' 'neurodevelopmental disorder with involuntary movements' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.orpha.net/ORDO/Orphanet_397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome 'Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome' SubClassOf 'congenital nervous system disorder' 'Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome' SubClassOf 'syndromic intellectual disability' 'Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome' SubClassOf 'Syndromic obesity' 'Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome' SubClassOf 'Syndromic obesity' http://www.orpha.net/ORDO/Orphanet_324999 JMP syndrome 'JMP syndrome' SubClassOf 'Proteasome disability syndrome' 'JMP syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0009484 uterine polyp 'uterine polyp' SubClassOf 'polyp' 'uterine polyp' SubClassOf 'polyp' http://www.ebi.ac.uk/efo/EFO_0009487 nerve compression syndrome 'nerve compression syndrome' SubClassOf 'peripheral neuropathy' 'nerve compression syndrome' SubClassOf 'peripheral neuropathy' http://www.orpha.net/ORDO/Orphanet_261290 Trisomy 17p 'Trisomy 17p' SubClassOf 'Partial duplication of the short arm of chromosome 17' 'Trisomy 17p' SubClassOf 'Partial duplication of the short arm of chromosome 17' http://www.orpha.net/ORDO/Orphanet_261295 20p12.3 microdeletion syndrome '20p12.3 microdeletion syndrome' SubClassOf 'Partial monosomy of the short arm of chromosome 20' '20p12.3 microdeletion syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0009481 paranasal sinus disease 'paranasal sinus disease' SubClassOf 'head and neck disorder' http://www.ebi.ac.uk/efo/EFO_0009483 breast disease 'breast disease' SubClassOf 'thoracic disorder' 'breast disease' SubClassOf 'disease' http://www.orpha.net/ORDO/Orphanet_1067 Aniridia - ptosis - intellectual disability - familial obesity 'Aniridia - ptosis - intellectual disability - familial obesity' SubClassOf 'syndromic intellectual disability' 'Aniridia - ptosis - intellectual disability - familial obesity' SubClassOf 'Syndromic aniridia' 'Aniridia - ptosis - intellectual disability - familial obesity' SubClassOf 'Syndromic aniridia' http://www.orpha.net/ORDO/Orphanet_1064 Aniridia - renal agenesis - psychomotor retardation 'Aniridia - renal agenesis - psychomotor retardation' SubClassOf 'non-syndromic urogenital tract malformation' 'Aniridia - renal agenesis - psychomotor retardation' SubClassOf 'Syndromic urogenital tract malformation' 'Aniridia - renal agenesis - psychomotor retardation' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Aniridia - renal agenesis - psychomotor retardation' SubClassOf 'Syndromic aniridia' 'Aniridia - renal agenesis - psychomotor retardation' SubClassOf 'Syndromic renal or urinary tract malformation' 'Aniridia - renal agenesis - psychomotor retardation' SubClassOf 'congenital nervous system disorder' 'Aniridia - renal agenesis - psychomotor retardation' SubClassOf 'syndromic intellectual disability' 'Aniridia - renal agenesis - psychomotor retardation' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Aniridia - renal agenesis - psychomotor retardation' SubClassOf 'Syndromic renal or urinary tract malformation' 'Aniridia - renal agenesis - psychomotor retardation' SubClassOf 'Syndromic aniridia' http://www.orpha.net/ORDO/Orphanet_1065 Aniridia - cerebellar ataxia - intellectual disability 'Aniridia - cerebellar ataxia - intellectual disability' SubClassOf 'Syndromic aniridia' 'Aniridia - cerebellar ataxia - intellectual disability' SubClassOf 'syndromic intellectual disability' 'Aniridia - cerebellar ataxia - intellectual disability' SubClassOf 'Syndromic aniridia' http://www.orpha.net/ORDO/Orphanet_1062 Hereditary neurocutaneous angioma 'Hereditary neurocutaneous angioma' SubClassOf 'nervous system neoplasm' 'Hereditary neurocutaneous angioma' SubClassOf 'vascular neoplasm' 'Hereditary neurocutaneous angioma' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'Hereditary neurocutaneous angioma' SubClassOf 'Genetic neurovascular malformation' 'Hereditary neurocutaneous angioma' SubClassOf 'developmental defect during embryogenesis' 'Hereditary neurocutaneous angioma' SubClassOf 'Genetic neurovascular malformation' http://www.orpha.net/ORDO/Orphanet_1063 Tufted angioma 'Tufted angioma' SubClassOf 'skin hemangioma' 'Tufted angioma' SubClassOf 'genetic skin disease' 'Tufted angioma' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_1068 Aniridia-intellectual disability syndrome 'Aniridia-intellectual disability syndrome' SubClassOf 'Syndromic aniridia' 'Aniridia-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'Aniridia-intellectual disability syndrome' SubClassOf 'Syndromic aniridia' http://www.orpha.net/ORDO/Orphanet_1069 Aniridia - absent patella 'Aniridia - absent patella' SubClassOf 'Syndromic aniridia' 'Aniridia - absent patella' SubClassOf 'Syndromic aniridia' http://www.orpha.net/ORDO/Orphanet_1077 Dental ankylosis 'Dental ankylosis' SubClassOf 'tooth hard tissue disease' 'Dental ankylosis' SubClassOf 'genetic disorder' 'Dental ankylosis' SubClassOf 'ankylosis' 'Dental ankylosis' SubClassOf 'tooth disease' http://www.orpha.net/ORDO/Orphanet_1078 Thumb stiffness - brachydactyly - intellectual disability 'Thumb stiffness - brachydactyly - intellectual disability' SubClassOf 'congenital limb malformation' http://www.orpha.net/ORDO/Orphanet_1074 Ankyloblepharon filiforme - imperforate anus 'Ankyloblepharon filiforme - imperforate anus' SubClassOf 'Syndromic ankyloblepharon' 'Ankyloblepharon filiforme - imperforate anus' SubClassOf 'Syndromic anorectal malformation' 'Ankyloblepharon filiforme - imperforate anus' SubClassOf 'Syndromic ankyloblepharon' 'Ankyloblepharon filiforme - imperforate anus' SubClassOf 'Syndromic anorectal malformation' http://www.orpha.net/ORDO/Orphanet_1071 Ankyloblepharon - ectodermal defects - cleft lip/palate 'Ankyloblepharon - ectodermal defects - cleft lip/palate' SubClassOf 'congenital limb malformation' 'Ankyloblepharon - ectodermal defects - cleft lip/palate' SubClassOf 'Dysostosis of genetic origin' 'Ankyloblepharon - ectodermal defects - cleft lip/palate' SubClassOf 'Syndromic ankyloblepharon' 'Ankyloblepharon - ectodermal defects - cleft lip/palate' SubClassOf 'Ectodermal dysplasia syndrome' 'Ankyloblepharon - ectodermal defects - cleft lip/palate' SubClassOf 'Syndromic ankyloblepharon' 'Ankyloblepharon - ectodermal defects - cleft lip/palate' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_1072 Ankyloblepharon filiforme adnatum - cleft palate 'Ankyloblepharon filiforme adnatum - cleft palate' SubClassOf 'Orofacial clefting syndrome' 'Ankyloblepharon filiforme adnatum - cleft palate' SubClassOf 'Syndromic ankyloblepharon' 'Ankyloblepharon filiforme adnatum - cleft palate' SubClassOf 'Orofacial clefting syndrome' 'Ankyloblepharon filiforme adnatum - cleft palate' SubClassOf 'Syndromic ankyloblepharon' http://www.orpha.net/ORDO/Orphanet_397922 Ferro-cerebro-cutaneous syndrome 'Ferro-cerebro-cutaneous syndrome' SubClassOf 'Genetic neurodegenerative disease' 'Ferro-cerebro-cutaneous syndrome' SubClassOf 'Genetic parenchymatous liver disease' 'Ferro-cerebro-cutaneous syndrome' SubClassOf 'Inborn errors of metabolism' 'Ferro-cerebro-cutaneous syndrome' SubClassOf 'Genetic neurodegenerative disease' 'Ferro-cerebro-cutaneous syndrome' SubClassOf 'Genetic parenchymatous liver disease' http://www.orpha.net/ORDO/Orphanet_1088 Short stature-heart defect-craniofacial anomalies syndrome 'Short stature-heart defect-craniofacial anomalies syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Short stature-heart defect-craniofacial anomalies syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' 'Short stature-heart defect-craniofacial anomalies syndrome' SubClassOf 'has modifier' some 'rare' 'Short stature-heart defect-craniofacial anomalies syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' http://www.orpha.net/ORDO/Orphanet_1084 Isolated lissencephaly type 1 without known genetic defects 'Isolated lissencephaly type 1 without known genetic defects' SubClassOf 'Classic lissencephaly' 'Isolated lissencephaly type 1 without known genetic defects' SubClassOf 'Classic lissencephaly' http://www.orpha.net/ORDO/Orphanet_1083 Microlissencephaly 'Microlissencephaly' SubClassOf 'Lissencephaly' 'Microlissencephaly' SubClassOf 'Lissencephaly' http://www.orpha.net/ORDO/Orphanet_1094 Anonychia - microcephaly 'Anonychia - microcephaly' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Anonychia - microcephaly' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_1092 Renal-genital-middle ear anomalies 'Renal-genital-middle ear anomalies' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Renal-genital-middle ear anomalies' SubClassOf 'Syndromic renal or urinary tract malformation' 'Renal-genital-middle ear anomalies' SubClassOf 'Syndromic renal or urinary tract malformation' http://www.orpha.net/ORDO/Orphanet_1143 Neurogenic arthrogryposis multiplex congenita 'Neurogenic arthrogryposis multiplex congenita' SubClassOf 'Arthrogryposis multiplex congenita' 'Neurogenic arthrogryposis multiplex congenita' SubClassOf 'Arthrogryposis multiplex congenita' http://www.orpha.net/ORDO/Orphanet_1144 Arthrogryposis-like hand anomaly - sensorineural deafness 'Arthrogryposis-like hand anomaly - sensorineural deafness' SubClassOf 'Syndromic genetic deafness' 'Arthrogryposis-like hand anomaly - sensorineural deafness' SubClassOf 'Distal arthrogryposis' 'Arthrogryposis-like hand anomaly - sensorineural deafness' SubClassOf 'congenital nervous system disorder' 'Arthrogryposis-like hand anomaly - sensorineural deafness' SubClassOf 'Syndromic genetic deafness' 'Arthrogryposis-like hand anomaly - sensorineural deafness' SubClassOf 'Distal arthrogryposis' http://www.orpha.net/ORDO/Orphanet_261229 14q11.2 microduplication syndrome '14q11.2 microduplication syndrome' SubClassOf 'Partial duplication of the long arm of chromosome 14' '14q11.2 microduplication syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1149 Arthrogryposis-like syndrome 'Arthrogryposis-like syndrome' SubClassOf 'Arthrogryposis multiplex congenita' 'Arthrogryposis-like syndrome' SubClassOf 'Arthrogryposis multiplex congenita' http://www.orpha.net/ORDO/Orphanet_1147 Sheldon-Hall syndrome 'Sheldon-Hall syndrome' SubClassOf 'Distal arthrogryposis' 'Sheldon-Hall syndrome' SubClassOf 'Distal arthrogryposis' http://www.orpha.net/ORDO/Orphanet_275872 Frontotemporal dementia with motor neuron disease 'Frontotemporal dementia with motor neuron disease' SubClassOf 'Genetic neurodegenerative disease' 'Frontotemporal dementia with motor neuron disease' SubClassOf 'Genetic dementia' 'Frontotemporal dementia with motor neuron disease' SubClassOf 'disease arises from feature' some 'neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_1145 X-linked distal arthrogryposis multiplex congenita 'X-linked distal arthrogryposis multiplex congenita' SubClassOf 'congenital nervous system disorder' 'X-linked distal arthrogryposis multiplex congenita' SubClassOf 'Arthrogryposis multiplex congenita' 'X-linked distal arthrogryposis multiplex congenita' SubClassOf 'spinal muscular atrophy' 'X-linked distal arthrogryposis multiplex congenita' SubClassOf 'Arthrogryposis multiplex congenita' http://www.orpha.net/ORDO/Orphanet_1146 Digitotalar dysmorphism 'Digitotalar dysmorphism' SubClassOf 'Distal arthrogryposis' 'Digitotalar dysmorphism' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Digitotalar dysmorphism' SubClassOf 'Distal arthrogryposis' 'Digitotalar dysmorphism' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_261236 16p13.11 microdeletion syndrome '16p13.11 microdeletion syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 16' '16p13.11 microdeletion syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1154 Arthrogryposis with oculomotor limitation and electroretinal anomalies 'Arthrogryposis with oculomotor limitation and electroretinal anomalies' SubClassOf 'Distal arthrogryposis' 'Arthrogryposis with oculomotor limitation and electroretinal anomalies' SubClassOf 'Distal arthrogryposis' http://www.orpha.net/ORDO/Orphanet_1155 Arthrogryposis due to muscular dystrophy 'Arthrogryposis due to muscular dystrophy' SubClassOf 'Congenital muscular dystrophy' 'Arthrogryposis due to muscular dystrophy' SubClassOf 'Arthrogryposis multiplex congenita' 'Arthrogryposis due to muscular dystrophy' SubClassOf 'Congenital muscular dystrophy' 'Arthrogryposis due to muscular dystrophy' SubClassOf 'Arthrogryposis multiplex congenita' http://www.orpha.net/ORDO/Orphanet_1150 Arthrogryposis multiplex congenita - whistling face 'Arthrogryposis multiplex congenita - whistling face' SubClassOf 'Arthrogryposis multiplex congenita' 'Arthrogryposis multiplex congenita - whistling face' SubClassOf 'Arthrogryposis multiplex congenita' http://purl.obolibrary.org/obo/MONDO_0011504 NDE1-related microhydranencephaly 'NDE1-related microhydranencephaly' SubClassOf 'Rare genetic neurological disorder' 'NDE1-related microhydranencephaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.orpha.net/ORDO/Orphanet_275864 Behavioral variant of frontotemporal dementia 'Behavioral variant of frontotemporal dementia' SubClassOf 'Frontotemporal dementia' 'Behavioral variant of frontotemporal dementia' SubClassOf 'disease arises from feature' some 'neurodegenerative disease' 'Behavioral variant of frontotemporal dementia' SubClassOf 'Frontotemporal dementia' http://www.orpha.net/ORDO/Orphanet_1159 Progressive pseudorheumatoid arthropathy of childhood 'Progressive pseudorheumatoid arthropathy of childhood' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Progressive pseudorheumatoid arthropathy of childhood' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_261222 Distal 16p11.2 microdeletion syndrome 'Distal 16p11.2 microdeletion syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 16' 'Distal 16p11.2 microdeletion syndrome' SubClassOf 'Syndromic obesity' 'Distal 16p11.2 microdeletion syndrome' SubClassOf 'Syndromic obesity' 'Distal 16p11.2 microdeletion syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 16' http://www.orpha.net/ORDO/Orphanet_1166 Congenital unilateral hypoplasia of depressor anguli oris 'Congenital unilateral hypoplasia of depressor anguli oris' SubClassOf '22q11.2 deletion syndrome' 'Congenital unilateral hypoplasia of depressor anguli oris' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' http://www.orpha.net/ORDO/Orphanet_261204 16p11.2p12.2 microduplication syndrome '16p11.2p12.2 microduplication syndrome' SubClassOf 'Partial duplication of the short arm of chromosome 16' '16p11.2p12.2 microduplication syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1168 Ataxia - oculomotor apraxia type 1 'Ataxia - oculomotor apraxia type 1' SubClassOf 'Autosomal recessive ataxia due to ubiquinone deficiency' 'Ataxia - oculomotor apraxia type 1' SubClassOf 'disease has feature' some 'Coenzyme Q10 deficiency' 'Ataxia - oculomotor apraxia type 1' SubClassOf 'Ataxia-telangiectasia-like disorder' 'Ataxia - oculomotor apraxia type 1' SubClassOf 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' 'Ataxia - oculomotor apraxia type 1' SubClassOf 'Coenzyme Q10 deficiency' http://www.orpha.net/ORDO/Orphanet_261211 16p11.2p12.2 microdeletion syndrome '16p11.2p12.2 microdeletion syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 16' '16p11.2p12.2 microdeletion syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1177 Early-onset cerebellar ataxia with retained tendon reflexes 'Early-onset cerebellar ataxia with retained tendon reflexes' SubClassOf 'Autosomal recessive degenerative and progressive cerebellar ataxia' 'Early-onset cerebellar ataxia with retained tendon reflexes' SubClassOf 'Autosomal recessive degenerative and progressive cerebellar ataxia' http://www.orpha.net/ORDO/Orphanet_1174 Cerebellar ataxia - ectodermal dysplasia 'Cerebellar ataxia - ectodermal dysplasia' SubClassOf 'Ectodermal dysplasia syndrome' 'Cerebellar ataxia - ectodermal dysplasia' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_1175 X-linked progressive cerebellar ataxia 'X-linked progressive cerebellar ataxia' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked progressive cerebellar ataxia' SubClassOf 'X-linked cerebellar ataxia' 'X-linked progressive cerebellar ataxia' SubClassOf 'Spinocerebellar ataxia with oculomotor anomaly' 'X-linked progressive cerebellar ataxia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1172 Autosomal recessive cerebellar ataxia 'Autosomal recessive cerebellar ataxia' SubClassOf 'autosomal recessive disease' 'Autosomal recessive cerebellar ataxia' SubClassOf 'hereditary cerebellar ataxia' http://www.orpha.net/ORDO/Orphanet_1173 Cerebellar ataxia - hypogonadism 'Cerebellar ataxia - hypogonadism' SubClassOf 'Genetic neurodegenerative disease' 'Cerebellar ataxia - hypogonadism' SubClassOf 'Congenital hypogonadotropic hypogonadism' http://www.orpha.net/ORDO/Orphanet_1170 Autosomal recessive cerebelloparenchymal disorder type 3 'Autosomal recessive cerebelloparenchymal disorder type 3' SubClassOf 'Autosomal recessive congenital cerebellar ataxia' 'Autosomal recessive cerebelloparenchymal disorder type 3' SubClassOf 'Autosomal recessive congenital cerebellar ataxia' http://www.orpha.net/ORDO/Orphanet_1171 Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss 'Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss' SubClassOf 'Autosomal dominant optic atrophy plus syndrome' 'Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss' SubClassOf 'ATP1A3-associated neurological disorder' 'Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss' SubClassOf 'syndromic hereditary optic neuropathy' 'Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss' SubClassOf 'Syndromic genetic deafness' 'Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss' SubClassOf 'Syndromic genetic deafness' 'Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss' SubClassOf 'Autosomal dominant optic atrophy' http://www.orpha.net/ORDO/Orphanet_1178 Ataxia - tapetoretinal degeneration 'Ataxia - tapetoretinal degeneration' SubClassOf 'hereditary ataxia' http://www.orpha.net/ORDO/Orphanet_1179 Benign paroxysmal tonic upgaze of childhood with ataxia 'Benign paroxysmal tonic upgaze of childhood with ataxia' SubClassOf 'movement disorder' http://www.orpha.net/ORDO/Orphanet_1106 Microphthalmia with limb anomalies 'Microphthalmia with limb anomalies' SubClassOf 'autosomal recessive disease' 'Microphthalmia with limb anomalies' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://www.orpha.net/ORDO/Orphanet_1104 Anophthalmia plus syndrome 'Anophthalmia plus syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Anophthalmia plus syndrome' SubClassOf 'syndromic disease' 'Anophthalmia plus syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_1101 Anophthalmia - megalocornea - cardiopathy - skeletal anomalies 'Anophthalmia - megalocornea - cardiopathy - skeletal anomalies' SubClassOf 'syndromic disease' 'Anophthalmia - megalocornea - cardiopathy - skeletal anomalies' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Anophthalmia - megalocornea - cardiopathy - skeletal anomalies' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_261272 17q12 microduplication syndrome '17q12 microduplication syndrome' SubClassOf 'Partial duplication of the long arm of chromosome 17' '17q12 microduplication syndrome' SubClassOf 'Partial duplication of the long arm of chromosome 17' http://www.orpha.net/ORDO/Orphanet_261279 17q23.1q23.2 microdeletion syndrome '17q23.1q23.2 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 17' '17q23.1q23.2 microdeletion syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/HP_0002384 Focal impaired awareness seizure 'Focal impaired awareness seizure' SubClassOf 'Seizure' 'Focal impaired awareness seizure' SubClassOf http://purl.obolibrary.org/obo/HP_0007359 http://www.orpha.net/ORDO/Orphanet_248296 Constitutional deficiency anemia 'Constitutional deficiency anemia' EquivalentTo 'deficiency anemia' and ('has modifier' some 'inherited') 'Constitutional deficiency anemia' SubClassOf 'deficiency anemia' http://www.orpha.net/ORDO/Orphanet_1110 Aortic arch anomaly - peculiar facies - intellectual disability 'Aortic arch anomaly - peculiar facies - intellectual disability' SubClassOf 'syndromic intellectual disability' 'Aortic arch anomaly - peculiar facies - intellectual disability' SubClassOf 'congenital nervous system disorder' 'Aortic arch anomaly - peculiar facies - intellectual disability' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Aortic arch anomaly - peculiar facies - intellectual disability' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_1118 Fibular aplasia - ectrodactyly 'Fibular aplasia - ectrodactyly' SubClassOf 'congenital limb malformation' 'Fibular aplasia - ectrodactyly' SubClassOf 'Dysostosis of genetic origin' http://www.orpha.net/ORDO/Orphanet_1116 Aplasia cutis congenita - intestinal lymphangiectasia 'Aplasia cutis congenita - intestinal lymphangiectasia' SubClassOf 'Milroy disease' 'Aplasia cutis congenita - intestinal lymphangiectasia' SubClassOf 'intestinal disease' 'Aplasia cutis congenita - intestinal lymphangiectasia' SubClassOf 'Syndromic lymphedema' 'Aplasia cutis congenita - intestinal lymphangiectasia' SubClassOf 'mixed dermis disorder' 'Aplasia cutis congenita - intestinal lymphangiectasia' SubClassOf 'Primary lymphedema' 'Aplasia cutis congenita - intestinal lymphangiectasia' SubClassOf 'Syndromic lymphedema' http://www.orpha.net/ORDO/Orphanet_1117 Aplasia cutis - myopia 'Aplasia cutis - myopia' SubClassOf 'aplasia cutis congenita' 'Aplasia cutis - myopia' SubClassOf 'Syndromic myopia' 'Aplasia cutis - myopia' SubClassOf 'Syndromic myopia' http://www.orpha.net/ORDO/Orphanet_1114 Circumscribed cutaneous aplasia of the vertex 'Circumscribed cutaneous aplasia of the vertex' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_1115 Recessive aplasia cutis congenita of limbs 'Recessive aplasia cutis congenita of limbs' SubClassOf 'genetic skin disease' 'Recessive aplasia cutis congenita of limbs' SubClassOf 'mixed dermis disorder' http://www.orpha.net/ORDO/Orphanet_1112 Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis 'Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis' SubClassOf 'congenital limb malformation' 'Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis' SubClassOf 'Dysostosis of genetic origin' http://www.orpha.net/ORDO/Orphanet_1113 Aphalangy - syndactyly - microcephaly 'Aphalangy - syndactyly - microcephaly' SubClassOf 'congenital limb malformation' http://www.orpha.net/ORDO/Orphanet_261265 17q12 microdeletion syndrome '17q12 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 17' '17q12 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 17' http://www.orpha.net/ORDO/Orphanet_1121 Radial deficiency - tibial hypoplasia 'Radial deficiency - tibial hypoplasia' SubClassOf 'congenital limb malformation' 'Radial deficiency - tibial hypoplasia' SubClassOf 'Dysostosis of genetic origin' http://www.orpha.net/ORDO/Orphanet_1122 Ulnar hypoplasia - split foot 'Ulnar hypoplasia - split foot' SubClassOf 'congenital limb malformation' 'Ulnar hypoplasia - split foot' SubClassOf 'Dysostosis of genetic origin' http://www.orpha.net/ORDO/Orphanet_1120 Lung agenesis - heart defect - thumb anomalies 'Lung agenesis - heart defect - thumb anomalies' SubClassOf 'Genetic respiratory malformation' 'Lung agenesis - heart defect - thumb anomalies' SubClassOf 'syndromic respiratory or mediastinal malformation' 'Lung agenesis - heart defect - thumb anomalies' SubClassOf 'Genetic respiratory malformation' http://www.orpha.net/ORDO/Orphanet_1129 Arachnodactyly - abnormal ossification - intellectual disability 'Arachnodactyly - abnormal ossification - intellectual disability' SubClassOf 'syndromic intellectual disability' 'Arachnodactyly - abnormal ossification - intellectual disability' SubClassOf 'congenital nervous system disorder' 'Arachnodactyly - abnormal ossification - intellectual disability' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Arachnodactyly - abnormal ossification - intellectual disability' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_1125 Ocular motor apraxia, Cogan type 'Ocular motor apraxia, Cogan type' SubClassOf 'Genetic neuro-ophthalmological disease' http://www.orpha.net/ORDO/Orphanet_1126 Aprosencephaly cerebellar dysgenesis 'Aprosencephaly cerebellar dysgenesis' SubClassOf 'Midline cerebral malformation' 'Aprosencephaly cerebellar dysgenesis' SubClassOf 'Midline cerebral malformation' http://www.orpha.net/ORDO/Orphanet_1123 Caudal appendage - deafness 'Caudal appendage - deafness' SubClassOf 'syndromic intellectual disability' 'Caudal appendage - deafness' SubClassOf 'Syndromic genetic deafness' 'Caudal appendage - deafness' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Caudal appendage - deafness' SubClassOf 'congenital nervous system disorder' 'Caudal appendage - deafness' SubClassOf 'Syndromic genetic deafness' 'Caudal appendage - deafness' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_261250 16q24.3 microdeletion syndrome '16q24.3 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 16' '16q24.3 microdeletion syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_261257 Distal 17p13.3 microdeletion syndrome 'Distal 17p13.3 microdeletion syndrome' SubClassOf 'chromosome 17p deletion' http://www.orpha.net/ORDO/Orphanet_1133 AREDYLD syndrome 'AREDYLD syndrome' SubClassOf 'Developmental anomaly of metabolic origin' 'AREDYLD syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'AREDYLD syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'AREDYLD syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'AREDYLD syndrome' SubClassOf 'Rare genetic diabetes mellitus' 'AREDYLD syndrome' SubClassOf 'diabetes mellitus' 'AREDYLD syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1130 Arachnodactyly - intellectual disability - dysmorphism 'Arachnodactyly - intellectual disability - dysmorphism' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://www.orpha.net/ORDO/Orphanet_1131 X-linked mandibulofacial dysostosis 'X-linked mandibulofacial dysostosis' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked mandibulofacial dysostosis' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'X-linked mandibulofacial dysostosis' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked mandibulofacial dysostosis' SubClassOf 'congenital nervous system disorder' 'X-linked mandibulofacial dysostosis' SubClassOf 'Mandibulofacial dysostosis' 'X-linked mandibulofacial dysostosis' SubClassOf 'Acrofacial dysostosis' 'X-linked mandibulofacial dysostosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1136 Arnold-Chiari malformation type II 'Arnold-Chiari malformation type II' SubClassOf 'Spina bifida cystica' 'Arnold-Chiari malformation type II' SubClassOf 'Chiari malformation' 'Arnold-Chiari malformation type II' SubClassOf 'Spina bifida cystica' http://www.orpha.net/ORDO/Orphanet_1135 Arrhinia - choanal atresia - microphthalmia 'Arrhinia - choanal atresia - microphthalmia' SubClassOf 'genetic otorhinolaryngological malformation' 'Arrhinia - choanal atresia - microphthalmia' SubClassOf 'nose and cavum anomaly' 'Arrhinia - choanal atresia - microphthalmia' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Arrhinia - choanal atresia - microphthalmia' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_261243 16p13.11 microduplication syndrome '16p13.11 microduplication syndrome' SubClassOf 'Partial duplication of the short arm of chromosome 16' '16p13.11 microduplication syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_309450 Disorder of O-xylosylglycan synthesis 'Disorder of O-xylosylglycan synthesis' SubClassOf 'Disorder of protein O-glycosylation' 'Disorder of O-xylosylglycan synthesis' SubClassOf 'Disorder of protein O-glycosylation' http://purl.obolibrary.org/obo/MONDO_0011571 deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 'deafness, autosomal dominant 39, with dentinogenesis imperfecta 1' SubClassOf 'Dentinogenesis imperfecta type 2' 'deafness, autosomal dominant 39, with dentinogenesis imperfecta 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0007441 http://purl.obolibrary.org/obo/MONDO_0011577 myopathy, proximal, and ophthalmoplegia 'myopathy, proximal, and ophthalmoplegia' SubClassOf 'inclusion body myositis' 'myopathy, proximal, and ophthalmoplegia' SubClassOf 'inclusion body myositis' http://www.orpha.net/ORDO/Orphanet_309458 Disorder of O-N-acetylgalactosaminylglycan synthesis 'Disorder of O-N-acetylgalactosaminylglycan synthesis' SubClassOf 'Disorder of protein O-glycosylation' 'Disorder of O-N-acetylgalactosaminylglycan synthesis' SubClassOf 'Disorder of protein O-glycosylation' http://www.orpha.net/ORDO/Orphanet_309463 Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis 'Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis' SubClassOf 'Disorder of protein O-glycosylation' 'Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis' SubClassOf 'Disorder of protein O-glycosylation' http://purl.obolibrary.org/obo/MONDO_0011584 Fanconi anemia complementation group D1 'Fanconi anemia complementation group D1' SubClassOf 'Inherited renal cancer-predisposing syndrome' 'Fanconi anemia complementation group D1' SubClassOf 'Fanconi anemia' 'Fanconi anemia complementation group D1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017891 'Fanconi anemia complementation group D1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019391 http://purl.obolibrary.org/obo/MONDO_0060502 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies 'neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies' SubClassOf 'Rare genetic neurological disorder' 'neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043005 'neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015159 'neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.orpha.net/ORDO/Orphanet_309469 Disorder of O-mannosylglycan synthesis 'Disorder of O-mannosylglycan synthesis' SubClassOf 'Disorder of protein O-glycosylation' 'Disorder of O-mannosylglycan synthesis' SubClassOf 'Disorder of protein O-glycosylation' http://purl.obolibrary.org/obo/MONDO_0011581 arrhythmogenic cardiomyopathy with woolly hair and keratoderma 'arrhythmogenic cardiomyopathy with woolly hair and keratoderma' SubClassOf 'Ectodermal dysplasia syndrome' 'arrhythmogenic cardiomyopathy with woolly hair and keratoderma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019287 http://www.orpha.net/ORDO/Orphanet_189466 Familial isolated hypoparathyroidism due to impaired PTH secretion 'Familial isolated hypoparathyroidism due to impaired PTH secretion' SubClassOf 'hypoparathyroidism, familial isolated 1' 'Familial isolated hypoparathyroidism due to impaired PTH secretion' SubClassOf 'Familial isolated hypoparathyroidism' http://www.orpha.net/ORDO/Orphanet_35612 Nanophthalmia 'Nanophthalmia' SubClassOf 'isolated microphthalmia' 'Nanophthalmia' SubClassOf 'Isolated anophthalmia - microphthalmia' 'Nanophthalmia' SubClassOf 'Isolated anophthalmia - microphthalmia' http://www.orpha.net/ORDO/Orphanet_309447 Disorder of protein O-glycosylation 'Disorder of protein O-glycosylation' SubClassOf 'Congenital disorder of glycosylation' 'Disorder of protein O-glycosylation' SubClassOf 'glycoprotein metabolism disease' 'Disorder of protein O-glycosylation' SubClassOf 'Congenital disorder of glycosylation' http://www.orpha.net/ORDO/Orphanet_189439 Primary pigmented nodular adrenocortical disease 'Primary pigmented nodular adrenocortical disease' SubClassOf 'adrenal gland disease' 'Primary pigmented nodular adrenocortical disease' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_33001 Lymphedema - distichiasis 'Lymphedema - distichiasis' SubClassOf 'Secondary ectropion' 'Lymphedema - distichiasis' SubClassOf 'Syndromic lymphedema' 'Lymphedema - distichiasis' SubClassOf 'Milroy disease' 'Lymphedema - distichiasis' SubClassOf 'Secondary ectropion' 'Lymphedema - distichiasis' SubClassOf 'Syndromic lymphedema' 'Lymphedema - distichiasis' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_35664 ALDH18A1-related De Barsy syndrome 'ALDH18A1-related De Barsy syndrome' SubClassOf 'De Barsy syndrome' 'ALDH18A1-related De Barsy syndrome' SubClassOf 'Developmental anomaly of metabolic origin' 'ALDH18A1-related De Barsy syndrome' SubClassOf 'inherited cutis laxa' 'ALDH18A1-related De Barsy syndrome' SubClassOf 'Cutis laxa' 'ALDH18A1-related De Barsy syndrome' SubClassOf 'P5CS deficiency' 'ALDH18A1-related De Barsy syndrome' SubClassOf 'De Barsy syndrome' http://www.orpha.net/ORDO/Orphanet_35656 Coenzyme Q10 deficiency 'Coenzyme Q10 deficiency' SubClassOf 'Neurometabolic disease' 'Coenzyme Q10 deficiency' SubClassOf 'Neurometabolic disease' http://www.orpha.net/ORDO/Orphanet_141333 Biemond syndrome type 2 'Biemond syndrome type 2' SubClassOf 'congenital nervous system disorder' 'Biemond syndrome type 2' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Biemond syndrome type 2' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Biemond syndrome type 2' SubClassOf 'syndromic intellectual disability' 'Biemond syndrome type 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_371436 Genetic neurovascular malformation 'Genetic neurovascular malformation' SubClassOf 'disorder of central nervous system or retinal vasculature' 'Genetic neurovascular malformation' SubClassOf 'has modifier' some 'rare' 'Genetic neurovascular malformation' SubClassOf 'disease has feature' some 'structural epilepsy' http://www.orpha.net/ORDO/Orphanet_371439 Genetic cerebrovascular dementia 'Genetic cerebrovascular dementia' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'Genetic cerebrovascular dementia' SubClassOf 'has modifier' some 'rare' 'Genetic cerebrovascular dementia' SubClassOf 'dementia' 'Genetic cerebrovascular dementia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015953 http://www.orpha.net/ORDO/Orphanet_141330 Orofaciodigital syndrome type 13 'Orofaciodigital syndrome type 13' SubClassOf 'Orofaciodigital syndrome' 'Orofaciodigital syndrome type 13' SubClassOf 'Orofaciodigital syndrome' http://www.orpha.net/ORDO/Orphanet_371445 Genetic syndromic esophageal malformation 'Genetic syndromic esophageal malformation' SubClassOf 'syndromic disease' 'Genetic syndromic esophageal malformation' EquivalentTo 'Esophageal malformation' and ('has modifier' some 'has a syndromic presentation') 'Genetic syndromic esophageal malformation' SubClassOf 'Esophageal malformation' 'Genetic syndromic esophageal malformation' SubClassOf 'Esophageal malformation' http://www.orpha.net/ORDO/Orphanet_141327 Orofaciodigital syndrome type 12 'Orofaciodigital syndrome type 12' SubClassOf 'Orofaciodigital syndrome' 'Orofaciodigital syndrome type 12' SubClassOf 'Orofaciodigital syndrome' http://www.orpha.net/ORDO/Orphanet_371428 Multicentric osteolysis-nodulosis-arthropathy spectrum 'Multicentric osteolysis-nodulosis-arthropathy spectrum' SubClassOf 'Primary osteolysis' 'Multicentric osteolysis-nodulosis-arthropathy spectrum' SubClassOf 'Primary osteolysis' http://www.ebi.ac.uk/efo/EFO_0009301 dystonia 28, childhood-onset 'dystonia 28, childhood-onset' SubClassOf 'Persistent combined dystonia' 'dystonia 28, childhood-onset' SubClassOf 'Rare genetic dystonia' 'dystonia 28, childhood-onset' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018329 http://www.ebi.ac.uk/efo/EFO_0009302 amelogenesis imperfecta, type ij 'amelogenesis imperfecta, type ij' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015047 http://www.ebi.ac.uk/efo/EFO_0009300 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 'neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant' SubClassOf 'Rare genetic neurological disorder' 'neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://purl.obolibrary.org/obo/UBERON_0002531 paired fin bud 'paired fin bud' SubClassOf 'part_of' some 'integumental system' http://www.orpha.net/ORDO/Orphanet_261190 15q14 microdeletion syndrome '15q14 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 15' '15q14 microdeletion syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_261197 Proximal 16p11.2 microdeletion syndrome 'Proximal 16p11.2 microdeletion syndrome' SubClassOf 'predisposes towards' some 'autism' 'Proximal 16p11.2 microdeletion syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 16' 'Proximal 16p11.2 microdeletion syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 16' http://www.orpha.net/ORDO/Orphanet_261183 15q11.2 microdeletion syndrome '15q11.2 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 15' '15q11.2 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 15' http://www.ebi.ac.uk/efo/EFO_0009385 familial tumoral calcinosis 'familial tumoral calcinosis' SubClassOf 'Tumoral calcinosis' 'familial tumoral calcinosis' SubClassOf 'calcinosis' 'familial tumoral calcinosis' SubClassOf 'Rare genetic tumor' 'familial tumoral calcinosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019052 'familial tumoral calcinosis' SubClassOf 'endocrine neoplasm' 'familial tumoral calcinosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015950 http://www.ebi.ac.uk/efo/EFO_0009383 tumoral calcinosis, hyperphosphatemic, familial, 2 'tumoral calcinosis, hyperphosphatemic, familial, 2' SubClassOf 'familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome' 'tumoral calcinosis, hyperphosphatemic, familial, 2' SubClassOf 'familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome' 'tumoral calcinosis, hyperphosphatemic, familial, 2' SubClassOf 'familial tumoral calcinosis' http://www.ebi.ac.uk/efo/EFO_0009384 tumoral calcinosis, hyperphosphatemic, familial, 3 'tumoral calcinosis, hyperphosphatemic, familial, 3' SubClassOf 'familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome' 'tumoral calcinosis, hyperphosphatemic, familial, 3' SubClassOf 'familial tumoral calcinosis' 'tumoral calcinosis, hyperphosphatemic, familial, 3' SubClassOf 'familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome' http://www.orpha.net/ORDO/Orphanet_1023 Congenital generalized hypertrichosis, Ambras type 'Congenital generalized hypertrichosis, Ambras type' SubClassOf 'Hypertrichosis lanuginosa congenita' 'Congenital generalized hypertrichosis, Ambras type' SubClassOf 'Hypertrichosis lanuginosa congenita' http://www.orpha.net/ORDO/Orphanet_1020 Early-onset autosomal dominant Alzheimer disease 'Early-onset autosomal dominant Alzheimer disease' SubClassOf 'disease has major feature' some 'dementia' 'Early-onset autosomal dominant Alzheimer disease' SubClassOf 'Genetic dementia' 'Early-onset autosomal dominant Alzheimer disease' SubClassOf 'familial Alzheimer disease' 'Early-onset autosomal dominant Alzheimer disease' SubClassOf 'autosomal dominant disease' 'Early-onset autosomal dominant Alzheimer disease' SubClassOf 'Genetic neurodegenerative disease' 'Early-onset autosomal dominant Alzheimer disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015547 'Early-onset autosomal dominant Alzheimer disease' SubClassOf 'Alzheimer disease' http://www.orpha.net/ORDO/Orphanet_1021 Amaurosis - hypertrichosis 'Amaurosis - hypertrichosis' SubClassOf 'Retinal dystrophy' 'Amaurosis - hypertrichosis' SubClassOf 'Retinal dystrophy' http://www.orpha.net/ORDO/Orphanet_263768 Partial duplication of chromosome X 'Partial duplication of chromosome X' SubClassOf 'chromosome X disorder' 'Partial duplication of chromosome X' SubClassOf 'Chromosome X structural anomaly' 'Partial duplication of chromosome X' SubClassOf 'syndrome caused by partial chromosomal duplication' 'Partial duplication of chromosome X' SubClassOf 'Chromosome X structural anomaly' http://www.orpha.net/ORDO/Orphanet_1028 Amelo-onycho-hypohidrotic syndrome 'Amelo-onycho-hypohidrotic syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Amelo-onycho-hypohidrotic syndrome' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_275752 Sickle cell disease and related diseases 'Sickle cell disease and related diseases' SubClassOf 'inherited hemoglobinopathy' 'Sickle cell disease and related diseases' SubClassOf 'anemia' http://www.orpha.net/ORDO/Orphanet_1027 Autosomal recessive amelia 'Autosomal recessive amelia' SubClassOf 'Dysostosis of genetic origin' 'Autosomal recessive amelia' SubClassOf 'congenital limb malformation' 'Autosomal recessive amelia' SubClassOf 'autosomal recessive disease' http://www.orpha.net/ORDO/Orphanet_275749 Beta-thalassemia and related diseases 'Beta-thalassemia and related diseases' SubClassOf 'inherited hemoglobinopathy' 'Beta-thalassemia and related diseases' SubClassOf 'anemia' http://www.orpha.net/ORDO/Orphanet_263775 Partial duplication of the short arm of chromosome X 'Partial duplication of the short arm of chromosome X' SubClassOf 'Partial duplication of chromosome X' 'Partial duplication of the short arm of chromosome X' SubClassOf 'Partial duplication of chromosome X' http://www.orpha.net/ORDO/Orphanet_261112 Monosomy 9p 'Monosomy 9p' SubClassOf 'Partial deletion of chromosome 9' http://www.orpha.net/ORDO/Orphanet_1034 Amniotic bands 'Amniotic bands' SubClassOf 'Terminal limb defects' 'Amniotic bands' SubClassOf 'Terminal limb defects' http://www.orpha.net/ORDO/Orphanet_1031 Amelogenesis imperfecta - nephrocalcinosis 'Amelogenesis imperfecta - nephrocalcinosis' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Amelogenesis imperfecta - nephrocalcinosis' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Amelogenesis imperfecta - nephrocalcinosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1032 Hyperdibasic aminoaciduria type 1 'Hyperdibasic aminoaciduria type 1' SubClassOf 'Disorder of amino acid absorption and transport' 'Hyperdibasic aminoaciduria type 1' SubClassOf 'Disorder of amino acid absorption and transport' http://www.ebi.ac.uk/efo/EFO_0009297 fg syndrome 'fg syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'fg syndrome' SubClassOf 'syndromic disease' 'fg syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 http://www.ebi.ac.uk/efo/EFO_0009299 marfan syndrome/loeys-dietz syndrome/familial thoracic aortic aneurysms and dissections 'marfan syndrome/loeys-dietz syndrome/familial thoracic aortic aneurysms and dissections' SubClassOf 'Marfan and Marfan-related disorder' 'marfan syndrome/loeys-dietz syndrome/familial thoracic aortic aneurysms and dissections' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017310 http://www.orpha.net/ORDO/Orphanet_263756 Partial deletion of the long arm of chromosome X 'Partial deletion of the long arm of chromosome X' SubClassOf 'Partial deletion of chromosome X' 'Partial deletion of the long arm of chromosome X' SubClassOf 'Partial deletion of chromosome X' http://www.orpha.net/ORDO/Orphanet_275745 Alpha-thalassemia and related diseases 'Alpha-thalassemia and related diseases' SubClassOf 'anemia' http://www.orpha.net/ORDO/Orphanet_275742 Genetic infertility 'Genetic infertility' SubClassOf 'infertility' 'Genetic infertility' EquivalentTo 'infertility' and ('has modifier' some 'inherited') 'Genetic infertility' SubClassOf 'reproductive system disease' http://www.orpha.net/ORDO/Orphanet_1037 Arthrogryposis multiplex congenita 'Arthrogryposis multiplex congenita' SubClassOf 'Arthrogryposis syndrome' 'Arthrogryposis multiplex congenita' SubClassOf 'Arthrogryposis syndrome' http://www.orpha.net/ORDO/Orphanet_1035 Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria 'Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria' SubClassOf 'Genetic neurodegenerative disease' 'Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_261102 Distal 7q11.23 microduplication syndrome 'Distal 7q11.23 microduplication syndrome' SubClassOf '7q11.23 microduplication syndrome' 'Distal 7q11.23 microduplication syndrome' SubClassOf 'Partial duplication of the long arm of chromosome 7' http://www.orpha.net/ORDO/Orphanet_309505 Disorder of fucoglycosan synthesis 'Disorder of fucoglycosan synthesis' SubClassOf 'Disorder of protein O-glycosylation' 'Disorder of fucoglycosan synthesis' SubClassOf 'Disorder of protein O-glycosylation' http://www.orpha.net/ORDO/Orphanet_1044 Anemia due to adenosine triphosphatase deficiency 'Anemia due to adenosine triphosphatase deficiency' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_1040 Metaphyseal anadysplasia 'Metaphyseal anadysplasia' SubClassOf 'Multiple metaphyseal dysplasia' 'Metaphyseal anadysplasia' SubClassOf 'Multiple metaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_263746 Y chromosome number anomaly 'Y chromosome number anomaly' SubClassOf 'Gonosome number anomaly' 'Y chromosome number anomaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_263749 X and Y chromosomal anomaly 'X and Y chromosomal anomaly' SubClassOf 'Gonosome number anomaly' 'X and Y chromosomal anomaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1048 Isolated anencephaly/exencephaly 'Isolated anencephaly/exencephaly' SubClassOf 'Neural tube closure defect' 'Isolated anencephaly/exencephaly' SubClassOf 'syndromic intellectual disability' 'Isolated anencephaly/exencephaly' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Isolated anencephaly/exencephaly' SubClassOf 'anencephaly' 'Isolated anencephaly/exencephaly' SubClassOf 'Neural tube closure defect' 'Isolated anencephaly/exencephaly' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_1046 Lethal hemolytic anemia - genital anomalies 'Lethal hemolytic anemia - genital anomalies' SubClassOf 'normocytic anemia' 'Lethal hemolytic anemia - genital anomalies' SubClassOf 'Syndromic urogenital tract malformation' 'Lethal hemolytic anemia - genital anomalies' SubClassOf 'Syndromic urogenital tract malformation' http://www.orpha.net/ORDO/Orphanet_248111 Juvenile Huntington disease 'Juvenile Huntington disease' SubClassOf 'Huntington disease' 'Juvenile Huntington disease' SubClassOf 'Neurodegenerative disease with chorea' 'Juvenile Huntington disease' SubClassOf 'Genetic neurodegenerative disease with dementia' http://www.orpha.net/ORDO/Orphanet_1051 Ramos-Arroyo syndrome 'Ramos-Arroyo syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Ramos-Arroyo syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Ramos-Arroyo syndrome' SubClassOf 'syndromic intellectual disability' 'Ramos-Arroyo syndrome' SubClassOf 'Syndromic genetic deafness' 'Ramos-Arroyo syndrome' SubClassOf 'congenital nervous system disorder' 'Ramos-Arroyo syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1052 Mosaic variegated aneuploidy syndrome 'Mosaic variegated aneuploidy syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' 'Mosaic variegated aneuploidy syndrome' SubClassOf 'Chromosomal anomaly' 'Mosaic variegated aneuploidy syndrome' SubClassOf 'has modifier' some 'mosaic' 'Mosaic variegated aneuploidy syndrome' SubClassOf 'neoplastic syndrome' 'Mosaic variegated aneuploidy syndrome' SubClassOf 'Chromosomal anomaly' http://www.orpha.net/ORDO/Orphanet_1059 Blue rubber bleb nevus 'Blue rubber bleb nevus' SubClassOf 'syndromic disease' 'Blue rubber bleb nevus' SubClassOf 'Genetic vascular anomaly' 'Blue rubber bleb nevus' SubClassOf 'Inherited cancer-predisposing syndrome' 'Blue rubber bleb nevus' SubClassOf 'skin vascular disease' 'Blue rubber bleb nevus' SubClassOf 'genetic skin disease' 'Blue rubber bleb nevus' SubClassOf 'simple vascular malformation' 'Blue rubber bleb nevus' SubClassOf 'Genetic vascular anomaly' 'Blue rubber bleb nevus' SubClassOf 'Inherited cancer-predisposing syndrome' http://purl.obolibrary.org/obo/MONDO_0011428 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 'ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3' SubClassOf 'EEC syndrome' 'ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3' SubClassOf http://purl.obolibrary.org/obo/MONDO_0010004 http://www.orpha.net/ORDO/Orphanet_261144 14q12 microdeletion syndrome '14q12 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 14' '14q12 microdeletion syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1000 Ocular albinism with late-onset sensorineural deafness 'Ocular albinism with late-onset sensorineural deafness' SubClassOf 'Ocular albinism' 'Ocular albinism with late-onset sensorineural deafness' SubClassOf 'Developmental anomaly of metabolic origin' 'Ocular albinism with late-onset sensorineural deafness' SubClassOf 'Syndromic genetic deafness' 'Ocular albinism with late-onset sensorineural deafness' SubClassOf 'Ocular albinism' 'Ocular albinism with late-onset sensorineural deafness' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_1001 2q37 microdeletion syndrome '2q37 microdeletion syndrome' SubClassOf 'Syndrome with brachydactyly' '2q37 microdeletion syndrome' SubClassOf 'syndromic disease' '2q37 microdeletion syndrome' SubClassOf 'congenital limb malformation' '2q37 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 2' '2q37 microdeletion syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1008 Alopecia - epilepsy - pyorrhea - intellectual disability 'Alopecia - epilepsy - pyorrhea - intellectual disability' SubClassOf 'genetic alopecia' 'Alopecia - epilepsy - pyorrhea - intellectual disability' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_275777 Heritable pulmonary arterial hypertension 'Heritable pulmonary arterial hypertension' SubClassOf 'idiopathic disease' 'Heritable pulmonary arterial hypertension' EquivalentTo 'pulmonary arterial hypertension' and ('has modifier' some 'inherited') 'Heritable pulmonary arterial hypertension' SubClassOf 'Genetic hypertension' 'Heritable pulmonary arterial hypertension' SubClassOf 'primary pulmonary hypertension' 'Heritable pulmonary arterial hypertension' SubClassOf 'pulmonary arterial hypertension' 'Heritable pulmonary arterial hypertension' SubClassOf 'Idiopathic and/or familial pulmonary arterial hypertension' 'Heritable pulmonary arterial hypertension' SubClassOf 'Rare genetic respiratory disease' 'Heritable pulmonary arterial hypertension' SubClassOf 'Idiopathic and/or familial pulmonary arterial hypertension' http://www.orpha.net/ORDO/Orphanet_1006 Alopecia antibody deficiency 'Alopecia antibody deficiency' SubClassOf 'genetic alopecia' 'Alopecia antibody deficiency' SubClassOf 'Alopecia' 'Alopecia antibody deficiency' SubClassOf 'Alopecia' http://www.orpha.net/ORDO/Orphanet_1005 Alopecia-contractures-dwarfism-intellectual disability syndrome 'Alopecia-contractures-dwarfism-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'Alopecia-contractures-dwarfism-intellectual disability syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Alopecia-contractures-dwarfism-intellectual disability syndrome' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_1003 Scalp defects - postaxial polydactyly 'Scalp defects - postaxial polydactyly' SubClassOf 'genetic skin disease' 'Scalp defects - postaxial polydactyly' SubClassOf 'mixed dermis disorder' 'Scalp defects - postaxial polydactyly' SubClassOf 'congenital limb malformation' http://www.orpha.net/ORDO/Orphanet_263793 Uniparental disomy of chromosome X 'Uniparental disomy of chromosome X' SubClassOf 'Chromosome X structural anomaly' 'Uniparental disomy of chromosome X' SubClassOf 'Chromosome X structural anomaly' http://www.orpha.net/ORDO/Orphanet_1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia 'Autosomal dominant palmoplantar keratoderma and congenital alopecia' SubClassOf 'Ectodermal dysplasia syndrome' 'Autosomal dominant palmoplantar keratoderma and congenital alopecia' SubClassOf 'Diffuse palmoplantar keratoderma' 'Autosomal dominant palmoplantar keratoderma and congenital alopecia' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_275766 Idiopathic pulmonary arterial hypertension 'Idiopathic pulmonary arterial hypertension' SubClassOf 'Idiopathic and/or familial pulmonary arterial hypertension' 'Idiopathic pulmonary arterial hypertension' SubClassOf 'Heritable pulmonary arterial hypertension' 'Idiopathic pulmonary arterial hypertension' SubClassOf 'Idiopathic and/or familial pulmonary arterial hypertension' http://www.orpha.net/ORDO/Orphanet_1018 X-linked diffuse leiomyomatosis - Alport syndrome 'X-linked diffuse leiomyomatosis - Alport syndrome' SubClassOf 'Basement membrane disease' 'X-linked diffuse leiomyomatosis - Alport syndrome' SubClassOf 'Partial deletion of the long arm of chromosome X' 'X-linked diffuse leiomyomatosis - Alport syndrome' SubClassOf 'Basement membrane disease' 'X-linked diffuse leiomyomatosis - Alport syndrome' SubClassOf 'Partial deletion of the long arm of chromosome X' http://www.orpha.net/ORDO/Orphanet_275761 Lysosomal acid lipase deficiency 'Lysosomal acid lipase deficiency' SubClassOf 'Lipid storage disease' 'Lysosomal acid lipase deficiency' SubClassOf 'Rare syndromic dyslipidemia' 'Lysosomal acid lipase deficiency' SubClassOf 'Lipid storage disease' 'Lysosomal acid lipase deficiency' SubClassOf 'Rare syndromic dyslipidemia' http://www.orpha.net/ORDO/Orphanet_1014 Alopecia - intellectual disability - hypergonadotropic hypogonadism 'Alopecia - intellectual disability - hypergonadotropic hypogonadism' SubClassOf 'genetic alopecia' 'Alopecia - intellectual disability - hypergonadotropic hypogonadism' SubClassOf 'Alopecia' 'Alopecia - intellectual disability - hypergonadotropic hypogonadism' SubClassOf 'Alopecia' http://www.orpha.net/ORDO/Orphanet_263783 Partial duplication of the long arm of chromosome X 'Partial duplication of the long arm of chromosome X' SubClassOf 'Partial duplication of chromosome X' 'Partial duplication of the long arm of chromosome X' SubClassOf 'Partial duplication of chromosome X' http://purl.obolibrary.org/obo/MONDO_0023419 hyperprolinemia 'hyperprolinemia' SubClassOf 'Disorder of proline metabolism' 'hyperprolinemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017355 http://www.orpha.net/ORDO/Orphanet_261120 14q11.2 microdeletion syndrome '14q11.2 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 14' '14q11.2 microdeletion syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0011459 arrhythmogenic right ventricular dysplasia 5 'arrhythmogenic right ventricular dysplasia 5' SubClassOf 'Familial isolated arrhythmogenic right ventricular dysplasia' 'arrhythmogenic right ventricular dysplasia 5' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016342 http://purl.obolibrary.org/obo/MONDO_0011450 breast-ovarian cancer, familial, susceptibility to, 1 'breast-ovarian cancer, familial, susceptibility to, 1' SubClassOf 'Hereditary breast and ovarian cancer syndrome' 'breast-ovarian cancer, familial, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003582 http://www.orpha.net/ORDO/Orphanet_238744 Mammary-digital-nail syndrome 'Mammary-digital-nail syndrome' SubClassOf 'Rare genetic gynecological and obstetrical diseases' 'Mammary-digital-nail syndrome' SubClassOf 'congenital limb malformation' 'Mammary-digital-nail syndrome' SubClassOf 'Dysostosis of genetic origin' 'Mammary-digital-nail syndrome' SubClassOf 'excess breast volume or number' 'Mammary-digital-nail syndrome' SubClassOf 'female reproductive system disease' http://purl.obolibrary.org/obo/MONDO_0011484 catecholaminergic polymorphic ventricular tachycardia 1 'catecholaminergic polymorphic ventricular tachycardia 1' SubClassOf 'Catecholaminergic polymorphic ventricular tachycardia' 'catecholaminergic polymorphic ventricular tachycardia 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017990 http://www.orpha.net/ORDO/Orphanet_238722 Familial congenital mirror movements 'Familial congenital mirror movements' SubClassOf 'movement disorder' 'Familial congenital mirror movements' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_309568 Defect in conserved oligomeric Golgi complex 'Defect in conserved oligomeric Golgi complex' SubClassOf 'Disorder of multiple glycosylation' 'Defect in conserved oligomeric Golgi complex' SubClassOf 'Disorder of multiple glycosylation' http://www.orpha.net/ORDO/Orphanet_263723 Polysomy of X chromosome 'Polysomy of X chromosome' SubClassOf 'X chromosome number anomaly' http://www.orpha.net/ORDO/Orphanet_263726 Partial deletion of chromosome X 'Partial deletion of chromosome X' SubClassOf 'syndrome caused by partial chromosomal deletion' 'Partial deletion of chromosome X' SubClassOf 'Chromosome X structural anomaly' 'Partial deletion of chromosome X' SubClassOf 'chromosome X disorder' 'Partial deletion of chromosome X' SubClassOf 'Chromosome X structural anomaly' http://www.orpha.net/ORDO/Orphanet_263731 Partial monosomy of the short arm of chromosome X 'Partial monosomy of the short arm of chromosome X' SubClassOf 'Partial deletion of chromosome X' 'Partial monosomy of the short arm of chromosome X' SubClassOf 'Partial deletion of chromosome X' http://www.orpha.net/ORDO/Orphanet_263714 X chromosome number anomaly 'X chromosome number anomaly' SubClassOf 'Gonosome number anomaly' 'X chromosome number anomaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_263717 X chromosome number anomaly with female phenotype 'X chromosome number anomaly with female phenotype' SubClassOf 'X chromosome number anomaly' 'X chromosome number anomaly with female phenotype' SubClassOf 'aneuploidy' http://www.orpha.net/ORDO/Orphanet_263720 X chromosome number anomaly with male phenotype 'X chromosome number anomaly with male phenotype' SubClassOf 'X chromosome number anomaly' 'X chromosome number anomaly with male phenotype' SubClassOf 'aneuploidy' http://www.orpha.net/ORDO/Orphanet_263708 Complex chromosomal rearrangement 'Complex chromosomal rearrangement' SubClassOf 'Autosomal anomaly' 'Complex chromosomal rearrangement' SubClassOf 'Autosomal anomaly' http://www.orpha.net/ORDO/Orphanet_238750 4q21 microdeletion syndrome '4q21 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 4' '4q21 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 4' http://www.orpha.net/ORDO/Orphanet_238755 Autosomal dominant limb-girdle muscular dystrophy type 1H 'Autosomal dominant limb-girdle muscular dystrophy type 1H' SubClassOf 'Autosomal dominant limb-girdle muscular dystrophy' 'Autosomal dominant limb-girdle muscular dystrophy type 1H' SubClassOf 'Autosomal dominant limb-girdle muscular dystrophy' http://www.orpha.net/ORDO/Orphanet_309515 Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' SubClassOf 'Disorder of lipid metabolism' 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' SubClassOf 'disorder of GPI anchor biosynthesis' 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' SubClassOf 'Congenital disorder of glycosylation' 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' SubClassOf 'Congenital disorder of glycosylation' http://www.orpha.net/ORDO/Orphanet_238763 Glaucoma secondary to spherophakia/ectopia lentis and megalocornea 'Glaucoma secondary to spherophakia/ectopia lentis and megalocornea' SubClassOf 'microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma' 'Glaucoma secondary to spherophakia/ectopia lentis and megalocornea' SubClassOf 'Hereditary glaucoma' 'Glaucoma secondary to spherophakia/ectopia lentis and megalocornea' SubClassOf 'Hereditary glaucoma' http://www.orpha.net/ORDO/Orphanet_238766 Ptosis - syndactyly - learning difficulties 'Ptosis - syndactyly - learning difficulties' SubClassOf 'syndromic intellectual disability' 'Ptosis - syndactyly - learning difficulties' SubClassOf 'congenital nervous system disorder' 'Ptosis - syndactyly - learning difficulties' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Ptosis - syndactyly - learning difficulties' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_238769 1q44 microdeletion syndrome '1q44 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 1' '1q44 microdeletion syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_309526 Disorder of multiple glycosylation 'Disorder of multiple glycosylation' SubClassOf 'Congenital disorder of glycosylation' 'Disorder of multiple glycosylation' SubClassOf 'Congenital disorder of glycosylation' http://www.orpha.net/ORDO/Orphanet_280663 Hermansky-Pudlak syndrome type 9 'Hermansky-Pudlak syndrome type 9' SubClassOf 'Hermansky-Pudlak syndrome' 'Hermansky-Pudlak syndrome type 9' SubClassOf 'Primary hemophagocytic lymphohistiocytosis' 'Hermansky-Pudlak syndrome type 9' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019312 http://www.orpha.net/ORDO/Orphanet_79389 Premature aging 'Premature aging' SubClassOf 'has modifier' some 'rare' 'Premature aging' SubClassOf 'disorder of development or morphogenesis' 'Premature aging' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79383 Lymphedema 'Lymphedema' SubClassOf 'lymphatic system disease' http://www.orpha.net/ORDO/Orphanet_280671 Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect 'Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect' SubClassOf 'Congenital muscular dystrophy' 'Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect' SubClassOf 'Congenital muscular dystrophy' http://www.orpha.net/ORDO/Orphanet_280679 Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism 'Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism' SubClassOf 'Moyamoya disease' 'Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism' SubClassOf 'Genetic central nervous system and retinal vascular disease' http://www.orpha.net/ORDO/Orphanet_79373 Ectodermal dysplasia syndrome 'Ectodermal dysplasia syndrome' SubClassOf 'Genetic epidermal appendage anomaly' 'Ectodermal dysplasia syndrome' SubClassOf 'syndromic disease' 'Ectodermal dysplasia syndrome' SubClassOf 'Genetic epidermal appendage anomaly' http://www.orpha.net/ORDO/Orphanet_79370 Syndromic nail anomaly 'Syndromic nail anomaly' SubClassOf 'syndromic disease' 'Syndromic nail anomaly' EquivalentTo 'nail anomaly' and ('has modifier' some 'has a syndromic presentation') 'Syndromic nail anomaly' SubClassOf 'Genetic nail anomaly' 'Syndromic nail anomaly' SubClassOf 'Genetic nail anomaly' http://www.orpha.net/ORDO/Orphanet_79367 Syndromic hair shaft abnormality 'Syndromic hair shaft abnormality' SubClassOf 'syndromic disease' 'Syndromic hair shaft abnormality' SubClassOf 'Genetic hair anomaly' 'Syndromic hair shaft abnormality' SubClassOf 'Genetic hair anomaly' http://www.orpha.net/ORDO/Orphanet_79366 Isolated hair shaft abnormality 'Isolated hair shaft abnormality' SubClassOf 'Genetic hair anomaly' 'Isolated hair shaft abnormality' SubClassOf 'has modifier' some 'has an isolated presentation' 'Isolated hair shaft abnormality' SubClassOf 'Genetic hair anomaly' http://www.orpha.net/ORDO/Orphanet_79369 Isolated nail anomaly 'Isolated nail anomaly' EquivalentTo 'nail disorder' and ('has modifier' some 'has an isolated presentation') and ('has modifier' some 'inherited') 'Isolated nail anomaly' SubClassOf 'Genetic nail anomaly' 'Isolated nail anomaly' SubClassOf 'has modifier' some 'has an isolated presentation' 'Isolated nail anomaly' SubClassOf 'Genetic nail anomaly' http://purl.obolibrary.org/obo/MONDO_0018701 congenital nemaline myopathy 'congenital nemaline myopathy' SubClassOf 'Congenital myopathy' 'congenital nemaline myopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019952 http://www.orpha.net/ORDO/Orphanet_79365 Hypertrichosis 'Hypertrichosis' SubClassOf 'Genetic hair anomaly' 'Hypertrichosis' SubClassOf 'Genetic hair anomaly' http://www.orpha.net/ORDO/Orphanet_79364 Alopecia 'Alopecia' SubClassOf 'hair anomaly' 'Alopecia' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_79361 Inherited epidermolysis bullosa 'Inherited epidermolysis bullosa' SubClassOf 'genetic skin disease' 'Inherited epidermolysis bullosa' SubClassOf 'epidermolysis bullosa' 'Inherited epidermolysis bullosa' SubClassOf 'epidermal disease' 'Inherited epidermolysis bullosa' EquivalentTo 'epidermolysis bullosa' and ('has modifier' some 'inherited') http://www.orpha.net/ORDO/Orphanet_79357 Hereditary palmoplantar keratoderma 'Hereditary palmoplantar keratoderma' SubClassOf 'genetic skin disease' 'Hereditary palmoplantar keratoderma' SubClassOf 'palmoplantar keratosis' 'Hereditary palmoplantar keratoderma' SubClassOf 'epidermal disease' 'Hereditary palmoplantar keratoderma' EquivalentTo 'palmoplantar keratosis' and ('has modifier' some 'inherited') http://www.orpha.net/ORDO/Orphanet_79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form '3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form' SubClassOf 'syndromic intellectual disability' '3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form' SubClassOf '3-phosphoglycerate dehydrogenase deficiency' '3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form' SubClassOf 'Neurometabolic disorder due to serine deficiency' http://www.orpha.net/ORDO/Orphanet_79350 3-phosphoserine phosphatase deficiency '3-phosphoserine phosphatase deficiency' SubClassOf 'syndromic intellectual disability' '3-phosphoserine phosphatase deficiency' SubClassOf 'Neurometabolic disorder due to serine deficiency' '3-phosphoserine phosphatase deficiency' SubClassOf 'Neurometabolic disorder due to serine deficiency' http://www.orpha.net/ORDO/Orphanet_280620 Progressive myoclonic epilepsy type 6 'Progressive myoclonic epilepsy type 6' SubClassOf 'Progressive myoclonic epilepsy' 'Progressive myoclonic epilepsy type 6' SubClassOf 'Progressive myoclonic epilepsy' http://www.orpha.net/ORDO/Orphanet_280628 Familial progressive hyper- and hypopigmentation 'Familial progressive hyper- and hypopigmentation' SubClassOf 'hyperpigmentation with or without hypopigmentation, familial progressive' 'Familial progressive hyper- and hypopigmentation' SubClassOf 'Genetic pigmentation anomaly of the skin' http://www.orpha.net/ORDO/Orphanet_280633 Multiple congenital anomalies - hypotonia - seizures syndrome 'Multiple congenital anomalies - hypotonia - seizures syndrome' SubClassOf 'multiple congenital anomalies-hypotonia-seizures syndrome' 'Multiple congenital anomalies - hypotonia - seizures syndrome' SubClassOf 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' 'Multiple congenital anomalies - hypotonia - seizures syndrome' SubClassOf 'congenital nervous system disorder' 'Multiple congenital anomalies - hypotonia - seizures syndrome' SubClassOf 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' 'Multiple congenital anomalies - hypotonia - seizures syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_280640 Occipital pachygyria and polymicrogyria 'Occipital pachygyria and polymicrogyria' SubClassOf 'cerebral malformation' http://purl.obolibrary.org/obo/MONDO_0043707 mediastinal disorder 'mediastinal disorder' SubClassOf 'thoracic disorder' 'mediastinal disorder' SubClassOf 'disease' http://purl.obolibrary.org/obo/MONDO_0018743 immune-mediated acquired neuromuscular junction disease 'immune-mediated acquired neuromuscular junction disease' SubClassOf 'acquired neuromuscular junction disease' 'immune-mediated acquired neuromuscular junction disease' SubClassOf 'acquired neuromuscular junction disease' http://purl.obolibrary.org/obo/MONDO_0018740 drug-induced methemoglobinemia 'drug-induced methemoglobinemia' SubClassOf 'Hereditary methemoglobinemia' http://www.orpha.net/ORDO/Orphanet_280651 Acrodysostosis with multiple hormone resistance 'Acrodysostosis with multiple hormone resistance' SubClassOf 'Acrofacial dysostosis' 'Acrodysostosis with multiple hormone resistance' SubClassOf 'Mandibulofacial dysostosis' 'Acrodysostosis with multiple hormone resistance' SubClassOf 'polyendocrinopathy' 'Acrodysostosis with multiple hormone resistance' SubClassOf 'Acrofacial dysostosis' 'Acrodysostosis with multiple hormone resistance' SubClassOf 'Mandibulofacial dysostosis' http://www.orpha.net/ORDO/Orphanet_363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome 'Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome' SubClassOf 'autosomal recessive disease' 'Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome' SubClassOf 'Diffuse palmoplantar keratoderma' http://www.orpha.net/ORDO/Orphanet_280654 Autosomal recessive nail dysplasia 'Autosomal recessive nail dysplasia' SubClassOf 'Isolated nail anomaly' 'Autosomal recessive nail dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0004116 esophageal small cell neuroendocrine carcinoma 'esophageal small cell neuroendocrine carcinoma' SubClassOf 'esophageal carcinoma' 'esophageal small cell neuroendocrine carcinoma' SubClassOf 'small cell carcinoma' 'esophageal small cell neuroendocrine carcinoma' SubClassOf 'esophageal carcinoma' 'esophageal small cell neuroendocrine carcinoma' SubClassOf 'small cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0018758 familial patent arterial duct 'familial patent arterial duct' SubClassOf 'Genetic cardiac anomaly' 'familial patent arterial duct' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017131 http://www.orpha.net/ORDO/Orphanet_79399 Generalized epidermolysis bullosa simplex, non-Dowling-Meara type 'Generalized epidermolysis bullosa simplex, non-Dowling-Meara type' SubClassOf 'Basal epidermolysis bullosa simplex' 'Generalized epidermolysis bullosa simplex, non-Dowling-Meara type' SubClassOf 'Basal epidermolysis bullosa simplex' http://www.orpha.net/ORDO/Orphanet_79396 Epidermolysis bullosa simplex, Dowling-Meara type 'Epidermolysis bullosa simplex, Dowling-Meara type' SubClassOf 'Basal epidermolysis bullosa simplex' 'Epidermolysis bullosa simplex, Dowling-Meara type' SubClassOf 'Basal epidermolysis bullosa simplex' http://www.orpha.net/ORDO/Orphanet_79395 Keratoderma hereditarium mutilans with ichthyosis 'Keratoderma hereditarium mutilans with ichthyosis' SubClassOf 'Autosomal dominant diffuse mutilating palmoplantar keratoderma' 'Keratoderma hereditarium mutilans with ichthyosis' SubClassOf 'Inherited non-syndromic ichthyosis' 'Keratoderma hereditarium mutilans with ichthyosis' SubClassOf 'Isolated diffuse palmoplantar keratoderma' 'Keratoderma hereditarium mutilans with ichthyosis' SubClassOf 'Autosomal dominant diffuse mutilating palmoplantar keratoderma' 'Keratoderma hereditarium mutilans with ichthyosis' SubClassOf 'Inherited non-syndromic ichthyosis' http://www.orpha.net/ORDO/Orphanet_79397 Epidermolysis bullosa simplex with mottled pigmentation 'Epidermolysis bullosa simplex with mottled pigmentation' SubClassOf 'Basal epidermolysis bullosa simplex' 'Epidermolysis bullosa simplex with mottled pigmentation' SubClassOf 'Basal epidermolysis bullosa simplex' http://www.orpha.net/ORDO/Orphanet_79394 Congenital non-bullous ichthyosiform erythroderma 'Congenital non-bullous ichthyosiform erythroderma' SubClassOf 'Autosomal recessive congenital ichthyosis' 'Congenital non-bullous ichthyosiform erythroderma' SubClassOf 'Autosomal recessive congenital ichthyosis' http://www.orpha.net/ORDO/Orphanet_228003 Severe combined immunodeficiency due to CORO1A deficiency 'Severe combined immunodeficiency due to CORO1A deficiency' SubClassOf 'T-B+ severe combined immunodeficiency' 'Severe combined immunodeficiency due to CORO1A deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044200 http://www.orpha.net/ORDO/Orphanet_169189 Autosomal dominant centronuclear myopathy 'Autosomal dominant centronuclear myopathy' SubClassOf 'Centronuclear myopathy' 'Autosomal dominant centronuclear myopathy' SubClassOf 'autosomal dominant disease' 'Autosomal dominant centronuclear myopathy' SubClassOf 'congenital structural myopathy' 'Autosomal dominant centronuclear myopathy' SubClassOf 'Centronuclear myopathy' http://www.orpha.net/ORDO/Orphanet_169186 Autosomal recessive centronuclear myopathy 'Autosomal recessive centronuclear myopathy' SubClassOf 'TTN-related myopathy' 'Autosomal recessive centronuclear myopathy' SubClassOf 'Centronuclear myopathy' 'Autosomal recessive centronuclear myopathy' SubClassOf 'autosomal recessive disease' 'Autosomal recessive centronuclear myopathy' SubClassOf 'Centronuclear myopathy' 'Autosomal recessive centronuclear myopathy' SubClassOf 'Qualitative or quantitative defects of titin' http://www.orpha.net/ORDO/Orphanet_79 Congenital alpha2 antiplasmin deficiency 'Congenital alpha2 antiplasmin deficiency' SubClassOf 'hemorrhagic disease' 'Congenital alpha2 antiplasmin deficiency' SubClassOf 'coagulation protein disease' http://purl.obolibrary.org/obo/MONDO_0016105 acquired skeletal muscle disease 'acquired skeletal muscle disease' SubClassOf 'Genetic skeletal muscle disease' 'acquired skeletal muscle disease' EquivalentTo 'Genetic skeletal muscle disease' and ('has modifier' some 'acquired') 'acquired skeletal muscle disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020120 'acquired skeletal muscle disease' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0020120 and ('has modifier' some 'acquired') http://www.orpha.net/ORDO/Orphanet_70 Proximal spinal muscular atrophy 'Proximal spinal muscular atrophy' SubClassOf 'Genetic peripheral neuropathy' 'Proximal spinal muscular atrophy' SubClassOf 'spinal muscular atrophy' 'Proximal spinal muscular atrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024257 'Proximal spinal muscular atrophy' SubClassOf 'Genetic peripheral neuropathy' 'Proximal spinal muscular atrophy' SubClassOf 'spinal muscular atrophy' http://www.orpha.net/ORDO/Orphanet_71 Chylomicron retention disease 'Chylomicron retention disease' SubClassOf 'Hypobetalipoproteinemia' 'Chylomicron retention disease' SubClassOf 'Genetic intestinal disease due to fat malabsorption' 'Chylomicron retention disease' SubClassOf 'Hypobetalipoproteinemia' 'Chylomicron retention disease' SubClassOf 'Genetic intestinal disease due to fat malabsorption' http://purl.obolibrary.org/obo/MONDO_0018764 microcephalic primordial dwarfism due to RTTN deficiency 'microcephalic primordial dwarfism due to RTTN deficiency' SubClassOf 'Microcephalic primordial dwarfism' 'microcephalic primordial dwarfism due to RTTN deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017950 http://www.orpha.net/ORDO/Orphanet_72 Angelman syndrome 'Angelman syndrome' SubClassOf 'epilepsy' 'Angelman syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Angelman syndrome' SubClassOf 'syndromic intellectual disability' 'Angelman syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_73 Gorham-Stout disease 'Gorham-Stout disease' SubClassOf 'bone benign neoplasm' 'Gorham-Stout disease' SubClassOf 'Congenital vascular bone syndrome' 'Gorham-Stout disease' SubClassOf 'disappearing bone disease' 'Gorham-Stout disease' SubClassOf 'Genetic vascular anomaly' 'Gorham-Stout disease' SubClassOf 'hereditary disorder of connective tissue' 'Gorham-Stout disease' SubClassOf 'vascular bone neoplasm' 'Gorham-Stout disease' SubClassOf 'lymphangioma' 'Gorham-Stout disease' SubClassOf 'rheumatic disease' 'Gorham-Stout disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_228000 Idiopathic CD4 lymphocytopenia 'Idiopathic CD4 lymphocytopenia' SubClassOf 'non-SCID combined immunodeficiency' 'Idiopathic CD4 lymphocytopenia' SubClassOf 'idiopathic disease' http://purl.obolibrary.org/obo/MONDO_0018760 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome 'WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome' SubClassOf 'Rare genetic neurological disorder' 'WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015159 http://www.orpha.net/ORDO/Orphanet_77 Aniridia 'Aniridia' SubClassOf 'Major induction processes eye anomaly' 'Aniridia' SubClassOf 'iris disorder' 'Aniridia' SubClassOf 'Major induction processes eye anomaly' http://purl.obolibrary.org/obo/MONDO_0018776 demyelinating hereditary motor and sensory neuropathy 'demyelinating hereditary motor and sensory neuropathy' SubClassOf 'Hereditary motor and sensory neuropathy' 'demyelinating hereditary motor and sensory neuropathy' SubClassOf 'Charcot-Marie-Tooth disease' 'demyelinating hereditary motor and sensory neuropathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015626 'demyelinating hereditary motor and sensory neuropathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015358 http://purl.obolibrary.org/obo/MONDO_0018779 hypercontractile muscle stiffness syndrome 'hypercontractile muscle stiffness syndrome' SubClassOf 'Alpha-crystallinopathy' 'hypercontractile muscle stiffness syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020343 http://purl.obolibrary.org/obo/MONDO_0018778 intermediate Charcot-Marie-Tooth disease 'intermediate Charcot-Marie-Tooth disease' SubClassOf 'Hereditary motor and sensory neuropathy' 'intermediate Charcot-Marie-Tooth disease' SubClassOf 'Charcot-Marie-Tooth disease' 'intermediate Charcot-Marie-Tooth disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015358 'intermediate Charcot-Marie-Tooth disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015626 http://www.orpha.net/ORDO/Orphanet_82 Hereditary thrombophilia due to congenital antithrombin deficiency 'Hereditary thrombophilia due to congenital antithrombin deficiency' SubClassOf 'Rare hereditary thrombophilia' 'Hereditary thrombophilia due to congenital antithrombin deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0018775 axonal hereditary motor and sensory neuropathy 'axonal hereditary motor and sensory neuropathy' SubClassOf 'Charcot-Marie-Tooth disease' 'axonal hereditary motor and sensory neuropathy' SubClassOf 'Hereditary motor and sensory neuropathy' 'axonal hereditary motor and sensory neuropathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015626 'axonal hereditary motor and sensory neuropathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015358 http://www.orpha.net/ORDO/Orphanet_83 Antley-Bixler syndrome 'Antley-Bixler syndrome' SubClassOf 'Syndromic craniosynostosis' 'Antley-Bixler syndrome' SubClassOf 'craniosynostosis syndrome, autosomal recessive' 'Antley-Bixler syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' 'Antley-Bixler syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Antley-Bixler syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_84 Fanconi anemia 'Fanconi anemia' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Fanconi anemia' SubClassOf 'bone marrow disorder' 'Fanconi anemia' SubClassOf 'Rare constitutional medullar aplasia' 'Fanconi anemia' SubClassOf 'Genetic syndrome with limb reduction defects' 'Fanconi anemia' SubClassOf 'Hematological disorder with renal involvement' 'Fanconi anemia' SubClassOf 'kidney disease' 'Fanconi anemia' SubClassOf 'DNA repair deficiency' 'Fanconi anemia' SubClassOf 'Dysostosis of genetic origin' 'Fanconi anemia' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Fanconi anemia' SubClassOf 'congenital anemia' 'Fanconi anemia' SubClassOf 'Developmental anomaly of metabolic origin' 'Fanconi anemia' SubClassOf 'Genetic hyperpigmentation of the skin' 'Fanconi anemia' SubClassOf 'inherited aplastic anemia' 'Fanconi anemia' SubClassOf 'congenital limb malformation' 'Fanconi anemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_85 Congenital dyserythropoietic anemia 'Congenital dyserythropoietic anemia' SubClassOf 'Constitutional dyserythropoietic anemia' 'Congenital dyserythropoietic anemia' SubClassOf 'familial hemolytic anemia' 'Congenital dyserythropoietic anemia' SubClassOf 'Constitutional dyserythropoietic anemia' http://www.orpha.net/ORDO/Orphanet_86 Familial abdominal aortic aneurysm 'Familial abdominal aortic aneurysm' SubClassOf 'Abdominal Aortic Aneurysm' 'Familial abdominal aortic aneurysm' SubClassOf 'has modifier' some 'rare' 'Familial abdominal aortic aneurysm' EquivalentTo 'Abdominal Aortic Aneurysm' and ('has modifier' some 'inherited') http://www.orpha.net/ORDO/Orphanet_87 Apert syndrome 'Apert syndrome' SubClassOf 'Acrocephalosyndactyly' 'Apert syndrome' SubClassOf 'Acrocephalosyndactyly' http://www.orpha.net/ORDO/Orphanet_314588 Distal tetrasomy 15q 'Distal tetrasomy 15q' SubClassOf '15q overgrowth syndrome' 'Distal tetrasomy 15q' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017806 http://www.orpha.net/ORDO/Orphanet_231679 Isolated growth hormone deficiency type II 'Isolated growth hormone deficiency type II' SubClassOf 'isolated congenital growth hormone deficiency' http://www.orpha.net/ORDO/Orphanet_314585 15q overgrowth syndrome '15q overgrowth syndrome' SubClassOf 'Partial duplication of the long arm of chromosome 15' '15q overgrowth syndrome' SubClassOf 'Overgrowth syndrome' '15q overgrowth syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '15q overgrowth syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_231671 Isolated growth hormone deficiency type IB 'Isolated growth hormone deficiency type IB' SubClassOf 'isolated congenital growth hormone deficiency' http://www.orpha.net/ORDO/Orphanet_56 Alkaptonuria 'Alkaptonuria' SubClassOf 'Pigmented conjunctival lesion' 'Alkaptonuria' SubClassOf 'genetic skin disease' 'Alkaptonuria' SubClassOf 'Disorder of tyrosine metabolism' 'Alkaptonuria' SubClassOf 'Pigmented conjunctival lesion' 'Alkaptonuria' SubClassOf 'Disorder of tyrosine metabolism' http://www.orpha.net/ORDO/Orphanet_57 Glycogen storage disease due to aldolase A deficiency 'Glycogen storage disease due to aldolase A deficiency' SubClassOf 'Glycogen storage disease' 'Glycogen storage disease due to aldolase A deficiency' SubClassOf 'familial hemolytic anemia' 'Glycogen storage disease due to aldolase A deficiency' SubClassOf 'anemia due to erythrocyte enzyme disorder' 'Glycogen storage disease due to aldolase A deficiency' SubClassOf 'Glycogen storage disease' http://www.orpha.net/ORDO/Orphanet_58 Alexander disease 'Alexander disease' SubClassOf 'Abnormal eye movements' 'Alexander disease' SubClassOf 'Leukodystrophy' 'Alexander disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_59 Allan-Herndon-Dudley syndrome 'Allan-Herndon-Dudley syndrome' SubClassOf 'Pure or complex X-linked spastic paraplegia' 'Allan-Herndon-Dudley syndrome' SubClassOf 'Complex hereditary spastic paraplegia' 'Allan-Herndon-Dudley syndrome' SubClassOf 'congenital nervous system disorder' 'Allan-Herndon-Dudley syndrome' SubClassOf 'Pelizaeus-Merzbacher-like disease' 'Allan-Herndon-Dudley syndrome' SubClassOf 'Syndromic hypothyroidism' 'Allan-Herndon-Dudley syndrome' SubClassOf 'Peripheral hypothyroidism' 'Allan-Herndon-Dudley syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Allan-Herndon-Dudley syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0016122 periodic paralysis 'periodic paralysis' SubClassOf 'inborn metal metabolism disorder' 'periodic paralysis' SubClassOf 'Genetic skeletal muscle disease' 'periodic paralysis' SubClassOf 'Metabolic myopathy' 'periodic paralysis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020120 http://www.orpha.net/ORDO/Orphanet_50 Aicardi syndrome 'Aicardi syndrome' SubClassOf 'Nervous system anomaly with eye involvement' 'Aicardi syndrome' SubClassOf 'disorder of development or morphogenesis' 'Aicardi syndrome' SubClassOf 'Rare genetic neurological disorder' 'Aicardi syndrome' SubClassOf 'Cerebral malformation with epilepsy' 'Aicardi syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Aicardi syndrome' SubClassOf 'Genetic neuro-ophthalmological disease' 'Aicardi syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Aicardi syndrome' SubClassOf 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' 'Aicardi syndrome' SubClassOf 'syndromic disease' 'Aicardi syndrome' SubClassOf 'neurodevelopmental disorder' 'Aicardi syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Aicardi syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_51 Aicardi-Goutières syndrome 'Aicardi-Goutières syndrome' SubClassOf 'Leukodystrophy' 'Aicardi-Goutières syndrome' SubClassOf 'hereditary disorder of connective tissue' 'Aicardi-Goutières syndrome' SubClassOf 'syndromic intellectual disability' 'Aicardi-Goutières syndrome' SubClassOf 'type 1 interferonopathy' 'Aicardi-Goutières syndrome' SubClassOf 'Primary immunodeficiency due to a defect in innate immunity' 'Aicardi-Goutières syndrome' SubClassOf 'autosomal recessive disease' 'Aicardi-Goutières syndrome' SubClassOf 'Leukodystrophy' http://www.orpha.net/ORDO/Orphanet_52 Alagille syndrome 'Alagille syndrome' SubClassOf 'heart disease' 'Alagille syndrome' SubClassOf 'Genetic biliary tract disease' 'Alagille syndrome' SubClassOf 'Syndromic visceral malformation' 'Alagille syndrome' SubClassOf 'eye disease' 'Alagille syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'Alagille syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Alagille syndrome' SubClassOf 'Rare syndrome with cardiac malformations' 'Alagille syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Alagille syndrome' SubClassOf 'Rare disease with glaucoma as a major feature' 'Alagille syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Alagille syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Alagille syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_53 Albers-Schönberg osteopetrosis 'Albers-Schönberg osteopetrosis' SubClassOf 'Autosomal recessive syndromic optic atrophy' 'Albers-Schönberg osteopetrosis' SubClassOf 'autosomal dominant osteopetrosis' 'Albers-Schönberg osteopetrosis' SubClassOf 'syndromic hereditary optic neuropathy' 'Albers-Schönberg osteopetrosis' SubClassOf 'Osteopetrosis' http://www.orpha.net/ORDO/Orphanet_54 X-linked recessive ocular albinism 'X-linked recessive ocular albinism' SubClassOf 'X-linked recessive disease' 'X-linked recessive ocular albinism' SubClassOf 'Ocular albinism' 'X-linked recessive ocular albinism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_55 Oculocutaneous albinism 'Oculocutaneous albinism' SubClassOf 'Genetic hypopigmentation of the skin' 'Oculocutaneous albinism' SubClassOf 'Oculocutaneous or ocular albinism' 'Oculocutaneous albinism' SubClassOf 'Disorder of melanin metabolism' 'Oculocutaneous albinism' SubClassOf 'Genetic hypopigmentation of the skin' 'Oculocutaneous albinism' SubClassOf 'Oculocutaneous or ocular albinism' 'Oculocutaneous albinism' SubClassOf 'Disorder of melanin metabolism' http://www.orpha.net/ORDO/Orphanet_228012 Progressive sensorineural hearing loss - hypertrophic cardiomyopathy 'Progressive sensorineural hearing loss - hypertrophic cardiomyopathy' SubClassOf 'Syndromic genetic deafness' 'Progressive sensorineural hearing loss - hypertrophic cardiomyopathy' SubClassOf 'familial hypertrophic cardiomyopathy' 'Progressive sensorineural hearing loss - hypertrophic cardiomyopathy' SubClassOf 'Genetic cardiac rhythm disease' 'Progressive sensorineural hearing loss - hypertrophic cardiomyopathy' SubClassOf 'Syndromic genetic deafness' 'Progressive sensorineural hearing loss - hypertrophic cardiomyopathy' SubClassOf 'Genetic cardiac rhythm disease' http://www.orpha.net/ORDO/Orphanet_314597 Chudley-McCullough syndrome 'Chudley-McCullough syndrome' SubClassOf 'Syndromic genetic deafness' 'Chudley-McCullough syndrome' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'Chudley-McCullough syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_231662 Isolated growth hormone deficiency type IA 'Isolated growth hormone deficiency type IA' SubClassOf 'isolated congenital growth hormone deficiency' http://www.orpha.net/ORDO/Orphanet_280615 Hemoglobinopathy Toms River 'Hemoglobinopathy Toms River' SubClassOf 'anemia' 'Hemoglobinopathy Toms River' SubClassOf 'inherited hemoglobinopathy' 'Hemoglobinopathy Toms River' SubClassOf 'cyanosis, transient neonatal' http://purl.obolibrary.org/obo/MONDO_0018794 cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder 'cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder' SubClassOf 'Rare genetic coagulation disorder' 'cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021181 http://www.orpha.net/ORDO/Orphanet_60 Alpha-1-antitrypsin deficiency 'Alpha-1-antitrypsin deficiency' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Alpha-1-antitrypsin deficiency' SubClassOf 'respiratory system disease' 'Alpha-1-antitrypsin deficiency' SubClassOf 'plasma protein metabolism disease' 'Alpha-1-antitrypsin deficiency' SubClassOf 'syndromic disease' 'Alpha-1-antitrypsin deficiency' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' http://www.orpha.net/ORDO/Orphanet_61 Alpha-mannosidosis 'Alpha-mannosidosis' SubClassOf 'Neurometabolic disease' 'Alpha-mannosidosis' SubClassOf 'Oligosaccharidosis' 'Alpha-mannosidosis' SubClassOf 'Neurometabolic disease' 'Alpha-mannosidosis' SubClassOf 'Oligosaccharidosis' http://www.orpha.net/ORDO/Orphanet_62 Autosomal recessive limb-girdle muscular dystrophy type 2D 'Autosomal recessive limb-girdle muscular dystrophy type 2D' SubClassOf 'Qualitative or quantitative defects of alpha-sarcoglycan' 'Autosomal recessive limb-girdle muscular dystrophy type 2D' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2D' SubClassOf 'Qualitative or quantitative defects of alpha-sarcoglycan' 'Autosomal recessive limb-girdle muscular dystrophy type 2D' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' http://www.orpha.net/ORDO/Orphanet_63 Alport syndrome 'Alport syndrome' SubClassOf 'glomerulonephritis' 'Alport syndrome' SubClassOf 'Basement membrane disease' 'Alport syndrome' SubClassOf 'Renal disease with cataract' 'Alport syndrome' SubClassOf 'Syndromic genetic deafness' 'Alport syndrome' SubClassOf 'hereditary nephritis' 'Alport syndrome' SubClassOf 'Lens shape anomaly' 'Alport syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_64 Alström syndrome 'Alström syndrome' SubClassOf 'Syndrome associated with dilated cardiomyopathy' 'Alström syndrome' SubClassOf 'has_disease_location' some 'cilium' 'Alström syndrome' SubClassOf 'Syndromic genetic deafness' 'Alström syndrome' SubClassOf 'ciliopathy' 'Alström syndrome' SubClassOf 'Syndromic obesity' 'Alström syndrome' SubClassOf 'Rare genetic diabetes mellitus' 'Alström syndrome' SubClassOf 'Syndromic retinitis pigmentosa' 'Alström syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_65 Leber congenital amaurosis 'Leber congenital amaurosis' SubClassOf 'Syndromic hyperopia' 'Leber congenital amaurosis' SubClassOf 'Retinal dystrophy' 'Leber congenital amaurosis' SubClassOf 'Unclassified primitive or secondary maculopathy' 'Leber congenital amaurosis' SubClassOf 'Syndromic keratoconus' 'Leber congenital amaurosis' SubClassOf 'congenital nervous system disorder' 'Leber congenital amaurosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_169147 Immunodeficiency due to an early component of complement deficiency 'Immunodeficiency due to an early component of complement deficiency' SubClassOf 'Immunodeficiency due to a complement cascade protein anomaly' 'Immunodeficiency due to an early component of complement deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_169142 Recurrent infection due to specific granule deficiency 'Recurrent infection due to specific granule deficiency' SubClassOf 'Functional neutrophil defect' 'Recurrent infection due to specific granule deficiency' SubClassOf 'defective phagocytic cell engulfment' 'Recurrent infection due to specific granule deficiency' SubClassOf 'Functional neutrophil defect' http://purl.obolibrary.org/obo/MONDO_0004166 hereditary fallopian tube carcinoma 'hereditary fallopian tube carcinoma' SubClassOf 'Fallopian Tube Carcinoma' 'hereditary fallopian tube carcinoma' SubClassOf 'Fallopian Tube Carcinoma' http://www.orpha.net/ORDO/Orphanet_231692 Isolated growth hormone deficiency type III 'Isolated growth hormone deficiency type III' SubClassOf 'isolated congenital growth hormone deficiency' http://www.orpha.net/ORDO/Orphanet_35 Propionic acidemia 'Propionic acidemia' SubClassOf 'Classic organic aciduria' 'Propionic acidemia' SubClassOf 'Classic organic aciduria' http://www.orpha.net/ORDO/Orphanet_36 Acrocallosal syndrome 'Acrocallosal syndrome' SubClassOf 'syndromic intellectual disability' 'Acrocallosal syndrome' SubClassOf 'congenital nervous system disorder' 'Acrocallosal syndrome' SubClassOf 'Rare genetic neurological disorder' 'Acrocallosal syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Acrocallosal syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_37 Acrodermatitis enteropathica 'Acrodermatitis enteropathica' SubClassOf 'inborn metal metabolism disorder' 'Acrodermatitis enteropathica' SubClassOf 'Genetic intestinal disease due to fat malabsorption' 'Acrodermatitis enteropathica' SubClassOf 'genetic skin disease' 'Acrodermatitis enteropathica' SubClassOf 'Disorder of zinc metabolism' 'Acrodermatitis enteropathica' SubClassOf 'Genetic intestinal disease due to fat malabsorption' 'Acrodermatitis enteropathica' SubClassOf 'Disorder of zinc metabolism' http://www.orpha.net/ORDO/Orphanet_38 Acrokeratoelastoidosis of Costa 'Acrokeratoelastoidosis of Costa' SubClassOf 'Marginal papular palmoplantar keratoderma' 'Acrokeratoelastoidosis of Costa' SubClassOf 'Genetic acrokeratoderma' 'Acrokeratoelastoidosis of Costa' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_30 Hereditary orotic aciduria 'Hereditary orotic aciduria' SubClassOf 'Vitamin B12- and folate-independent constitutional megaloblastic anemia' 'Hereditary orotic aciduria' SubClassOf 'Disorder of pyrimidine metabolism' 'Hereditary orotic aciduria' SubClassOf 'Vitamin B12- and folate-independent constitutional megaloblastic anemia' 'Hereditary orotic aciduria' SubClassOf 'Disorder of pyrimidine metabolism' http://www.orpha.net/ORDO/Orphanet_31 Oxoglutaricaciduria 'Oxoglutaricaciduria' SubClassOf 'Tricarboxylic acid cycle disorder' 'Oxoglutaricaciduria' SubClassOf 'inborn mitochondrial metabolism disorder' 'Oxoglutaricaciduria' SubClassOf 'Neurometabolic disease' 'Oxoglutaricaciduria' SubClassOf 'metabolic epilepsy' 'Oxoglutaricaciduria' SubClassOf 'Tricarboxylic acid cycle disorder' 'Oxoglutaricaciduria' SubClassOf 'Neurometabolic disease' http://www.orpha.net/ORDO/Orphanet_32 Glutathione synthetase deficiency 'Glutathione synthetase deficiency' SubClassOf 'inherited glutathione metabolism disease' 'Glutathione synthetase deficiency' SubClassOf 'defective phagocytic cell engulfment' 'Glutathione synthetase deficiency' SubClassOf 'Disorder of the gamma-glutamyl cycle' http://www.orpha.net/ORDO/Orphanet_33 Isovaleric acidemia 'Isovaleric acidemia' SubClassOf 'Classic organic aciduria' 'Isovaleric acidemia' SubClassOf 'Classic organic aciduria' http://www.orpha.net/ORDO/Orphanet_314575 Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome 'Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome' SubClassOf 'congenital nervous system disorder' 'Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome' SubClassOf 'inherited hypertrophic pyloric stenosis' 'Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome' SubClassOf 'Rare genetic neurological disorder' 'Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome' SubClassOf 'syndromic intellectual disability' 'Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_314572 Autosomal recessive leukoencephalopathy with ischemic stroke-retinitis pigmentosa syndrome 'Autosomal recessive leukoencephalopathy with ischemic stroke-retinitis pigmentosa syndrome' SubClassOf 'Syndromic retinitis pigmentosa' 'Autosomal recessive leukoencephalopathy with ischemic stroke-retinitis pigmentosa syndrome' SubClassOf 'cerebral small vessel disease' 'Autosomal recessive leukoencephalopathy with ischemic stroke-retinitis pigmentosa syndrome' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'Autosomal recessive leukoencephalopathy with ischemic stroke-retinitis pigmentosa syndrome' SubClassOf 'Syndromic retinitis pigmentosa' http://www.orpha.net/ORDO/Orphanet_169139 Transient hypogammaglobulinemia of infancy 'Transient hypogammaglobulinemia of infancy' SubClassOf 'transient hypogammaglobulinemia' 'Transient hypogammaglobulinemia of infancy' SubClassOf 'Immunodeficiency predominantly affecting antibody production' http://www.orpha.net/ORDO/Orphanet_45 Adenosine monophosphate deaminase deficiency 'Adenosine monophosphate deaminase deficiency' SubClassOf 'Disorder of purine metabolism' 'Adenosine monophosphate deaminase deficiency' SubClassOf 'Mitochondrial myopathy' 'Adenosine monophosphate deaminase deficiency' SubClassOf 'Disorder of purine metabolism' 'Adenosine monophosphate deaminase deficiency' SubClassOf 'Mitochondrial myopathy' http://www.orpha.net/ORDO/Orphanet_46 Adenylosuccinate lyase deficiency 'Adenylosuccinate lyase deficiency' SubClassOf 'Disorder of purine metabolism' 'Adenylosuccinate lyase deficiency' SubClassOf 'inherited amino acid metabolic disorder' 'Adenylosuccinate lyase deficiency' SubClassOf 'Disorder of purine metabolism' http://www.orpha.net/ORDO/Orphanet_47 X-linked agammaglobulinemia 'X-linked agammaglobulinemia' SubClassOf 'Isolated agammaglobulinemia' 'X-linked agammaglobulinemia' SubClassOf 'Isolated agammaglobulinemia' http://purl.obolibrary.org/obo/MONDO_0004180 benign urinary system neoplasm 'benign urinary system neoplasm' SubClassOf 'urinary system neoplasm' 'benign urinary system neoplasm' SubClassOf 'benign neoplasm' 'benign urinary system neoplasm' SubClassOf 'urinary system neoplasm' 'benign urinary system neoplasm' SubClassOf 'benign neoplasm' http://www.orpha.net/ORDO/Orphanet_48 Congenital bilateral absence of vas deferens 'Congenital bilateral absence of vas deferens' SubClassOf 'has modifier' some 'congenital' 'Congenital bilateral absence of vas deferens' SubClassOf 'non-syndromic urogenital tract malformation of male' 'Congenital bilateral absence of vas deferens' SubClassOf 'Non-syndromic male infertility due to sperm motility disorder' 'Congenital bilateral absence of vas deferens' SubClassOf 'Genetic urogenital tract malformation' http://www.orpha.net/ORDO/Orphanet_40 Acromesomelic dysplasia, Maroteaux type 'Acromesomelic dysplasia, Maroteaux type' SubClassOf 'Acromesomelic dysplasia' 'Acromesomelic dysplasia, Maroteaux type' SubClassOf 'Acromesomelic dysplasia' http://www.orpha.net/ORDO/Orphanet_41 Dyschromatosis symmetrica hereditaria 'Dyschromatosis symmetrica hereditaria' SubClassOf 'reticulate pigment disorder' 'Dyschromatosis symmetrica hereditaria' SubClassOf 'Genetic hyperpigmentation of the skin' 'Dyschromatosis symmetrica hereditaria' SubClassOf 'Genetic hyperpigmentation of the skin' http://www.orpha.net/ORDO/Orphanet_42 Medium chain acyl-CoA dehydrogenase deficiency 'Medium chain acyl-CoA dehydrogenase deficiency' SubClassOf 'Acyl-CoA dehydrogenase deficiency' 'Medium chain acyl-CoA dehydrogenase deficiency' SubClassOf 'Acyl-CoA dehydrogenase deficiency' http://www.orpha.net/ORDO/Orphanet_43 X-linked adrenoleukodystrophy 'X-linked adrenoleukodystrophy' SubClassOf 'X-linked disease' 'X-linked adrenoleukodystrophy' SubClassOf 'adrenal gland disease' 'X-linked adrenoleukodystrophy' SubClassOf 'Leukodystrophy' 'X-linked adrenoleukodystrophy' SubClassOf 'disorder of peroxisomal transporter' 'X-linked adrenoleukodystrophy' SubClassOf 'Neurometabolic disease' 'X-linked adrenoleukodystrophy' SubClassOf 'Leukodystrophy' 'X-linked adrenoleukodystrophy' SubClassOf 'Neurometabolic disease' 'X-linked adrenoleukodystrophy' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_44 Neonatal adrenoleukodystrophy 'Neonatal adrenoleukodystrophy' SubClassOf 'perinatal disease' 'Neonatal adrenoleukodystrophy' SubClassOf 'Peroxisome biogenesis disorder-Zellweger syndrome spectrum' 'Neonatal adrenoleukodystrophy' SubClassOf 'Metabolic disease with pigmentary retinitis' 'Neonatal adrenoleukodystrophy' SubClassOf 'Genetic chronic primary adrenal insufficiency' 'Neonatal adrenoleukodystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_169163 Familial scaphocephaly syndrome 'Familial scaphocephaly syndrome' SubClassOf 'Syndromic craniosynostosis' 'Familial scaphocephaly syndrome' SubClassOf 'Syndromic craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0004183 axonal neuropathy 'axonal neuropathy' SubClassOf 'peripheral neuropathy' 'axonal neuropathy' SubClassOf 'peripheral neuropathy' http://www.orpha.net/ORDO/Orphanet_13 6-pyruvoyl-tetrahydropterin synthase deficiency '6-pyruvoyl-tetrahydropterin synthase deficiency' SubClassOf 'Hyperphenylalaninemia' '6-pyruvoyl-tetrahydropterin synthase deficiency' SubClassOf 'Hyperphenylalaninemia' http://purl.obolibrary.org/obo/MONDO_0004192 urethra cancer 'urethra cancer' SubClassOf 'Malignant Urinary System Neoplasm' 'urethra cancer' SubClassOf 'Malignant Urinary System Neoplasm' http://www.orpha.net/ORDO/Orphanet_14 Abetalipoproteinemia 'Abetalipoproteinemia' SubClassOf 'Genetic peripheral neuropathy' 'Abetalipoproteinemia' SubClassOf 'familial hemolytic anemia' 'Abetalipoproteinemia' SubClassOf 'Genetic intestinal disease due to fat malabsorption' 'Abetalipoproteinemia' SubClassOf 'Hypobetalipoproteinemia' 'Abetalipoproteinemia' SubClassOf 'Autosomal recessive metabolic cerebellar ataxia' 'Abetalipoproteinemia' SubClassOf 'Neurometabolic disease' 'Abetalipoproteinemia' SubClassOf 'Genetic intestinal disease due to fat malabsorption' 'Abetalipoproteinemia' SubClassOf 'Hypobetalipoproteinemia' 'Abetalipoproteinemia' SubClassOf 'Autosomal recessive metabolic cerebellar ataxia' 'Abetalipoproteinemia' SubClassOf 'Neurometabolic disease' http://www.orpha.net/ORDO/Orphanet_15 Achondroplasia 'Achondroplasia' SubClassOf 'osteochondrodysplasia' 'Achondroplasia' SubClassOf 'FGFR3-related chondrodysplasia' 'Achondroplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019685 http://www.orpha.net/ORDO/Orphanet_16 Blue cone monochromatism 'Blue cone monochromatism' SubClassOf 'Achromatopsia' 'Blue cone monochromatism' SubClassOf 'X-linked cone-rod dystrophy' 'Blue cone monochromatism' SubClassOf 'X-linked recessive disease' 'Blue cone monochromatism' SubClassOf 'Color-vision disease' http://www.orpha.net/ORDO/Orphanet_17 Fatal infantile lactic acidosis with methylmalonic aciduria 'Fatal infantile lactic acidosis with methylmalonic aciduria' SubClassOf 'Mitochondrial DNA depletion syndrome, encephalomyopathic form' 'Fatal infantile lactic acidosis with methylmalonic aciduria' SubClassOf 'lactic acidosis' 'Fatal infantile lactic acidosis with methylmalonic aciduria' SubClassOf 'Mitochondrial DNA depletion syndrome' http://www.orpha.net/ORDO/Orphanet_18 Distal renal tubular acidosis 'Distal renal tubular acidosis' SubClassOf 'Primary renal tubular acidosis' 'Distal renal tubular acidosis' SubClassOf 'Primary renal tubular acidosis' http://www.orpha.net/ORDO/Orphanet_19 2-hydroxyglutaric aciduria '2-hydroxyglutaric aciduria' SubClassOf 'Neurometabolic disease' '2-hydroxyglutaric aciduria' SubClassOf 'Cerebral organic aciduria' '2-hydroxyglutaric aciduria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta 'T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta' SubClassOf 'T-B+ severe combined immunodeficiency' 'T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0016167 optic pathway glioma 'optic pathway glioma' SubClassOf 'hereditary disorder of connective tissue' http://www.orpha.net/ORDO/Orphanet_10 48,XXYY syndrome '48,XXYY syndrome' SubClassOf 'Sex chromosome disorder of sex development' '48,XXYY syndrome' SubClassOf 'X and Y chromosomal anomaly' '48,XXYY syndrome' SubClassOf 'syndromic intellectual disability' '48,XXYY syndrome' SubClassOf 'Syndromic urogenital tract malformation' '48,XXYY syndrome' SubClassOf 'Rare genetic neurological disorder' '48,XXYY syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_11 Pentasomy X 'Pentasomy X' SubClassOf 'chromosome X disorder' 'Pentasomy X' SubClassOf 'syndromic disease' 'Pentasomy X' SubClassOf 'Polysomy of X chromosome' 'Pentasomy X' SubClassOf 'pentasomy' 'Pentasomy X' SubClassOf 'Polysomy of X chromosome' http://www.orpha.net/ORDO/Orphanet_169157 T-B+ severe combined immunodeficiency due to CD45 deficiency 'T-B+ severe combined immunodeficiency due to CD45 deficiency' SubClassOf 'T-B+ severe combined immunodeficiency' 'T-B+ severe combined immunodeficiency due to CD45 deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_314555 Craniofacial dysplasia-osteopenia syndrome 'Craniofacial dysplasia-osteopenia syndrome' SubClassOf 'cranial malformation' 'Craniofacial dysplasia-osteopenia syndrome' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency 'T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency' SubClassOf 'T-B+ severe combined immunodeficiency' 'T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency' SubClassOf 'disorder of development or morphogenesis' 'T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_23 Argininosuccinic aciduria 'Argininosuccinic aciduria' SubClassOf 'urea cycle disorder' http://www.orpha.net/ORDO/Orphanet_24 Fumaric aciduria 'Fumaric aciduria' SubClassOf 'Tricarboxylic acid cycle disorder' 'Fumaric aciduria' SubClassOf 'Neurometabolic disease' 'Fumaric aciduria' SubClassOf 'inborn mitochondrial metabolism disorder' 'Fumaric aciduria' SubClassOf 'Tricarboxylic acid cycle disorder' 'Fumaric aciduria' SubClassOf 'Neurometabolic disease' http://www.orpha.net/ORDO/Orphanet_25 Glutaryl-CoA dehydrogenase deficiency 'Glutaryl-CoA dehydrogenase deficiency' SubClassOf 'Cerebral organic aciduria' 'Glutaryl-CoA dehydrogenase deficiency' SubClassOf 'glutaric aciduria' 'Glutaryl-CoA dehydrogenase deficiency' SubClassOf 'Neurometabolic disease' 'Glutaryl-CoA dehydrogenase deficiency' SubClassOf 'Cerebral organic aciduria' 'Glutaryl-CoA dehydrogenase deficiency' SubClassOf 'Neurometabolic disease' http://www.orpha.net/ORDO/Orphanet_26 Methylmalonic acidemia with homocystinuria 'Methylmalonic acidemia with homocystinuria' DisjointWith 'Homocystinuria without methylmalonic aciduria' 'Methylmalonic acidemia with homocystinuria' SubClassOf 'methylmalonic acidemia' 'Methylmalonic acidemia with homocystinuria' SubClassOf 'Disorder of cobalamin metabolism and transport' 'Methylmalonic acidemia with homocystinuria' SubClassOf 'homocystinuria' 'Methylmalonic acidemia with homocystinuria' SubClassOf 'Classic organic aciduria' 'Methylmalonic acidemia with homocystinuria' EquivalentTo 'methylmalonic acidemia' and 'homocystinuria' 'Methylmalonic acidemia with homocystinuria' SubClassOf 'Disorder of cobalamin metabolism and transport' 'Methylmalonic acidemia with homocystinuria' SubClassOf 'Classic organic aciduria' http://www.orpha.net/ORDO/Orphanet_27 Vitamin B12-unresponsive methylmalonic acidemia 'Vitamin B12-unresponsive methylmalonic acidemia' SubClassOf 'Methylmalonic acidemia without homocystinuria' 'Vitamin B12-unresponsive methylmalonic acidemia' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Vitamin B12-unresponsive methylmalonic acidemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_28 Vitamin B12-responsive methylmalonic acidemia 'Vitamin B12-responsive methylmalonic acidemia' SubClassOf 'methylmalonic acidemia' 'Vitamin B12-responsive methylmalonic acidemia' SubClassOf 'Disorder of cobalamin metabolism and transport' 'Vitamin B12-responsive methylmalonic acidemia' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Vitamin B12-responsive methylmalonic acidemia' SubClassOf 'Disorder of cobalamin metabolism and transport' 'Vitamin B12-responsive methylmalonic acidemia' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' http://purl.obolibrary.org/obo/MONDO_0043768 thrombocytopenic purpura 'thrombocytopenic purpura' SubClassOf 'Genetic thrombotic microangiopathy' 'thrombocytopenic purpura' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019737 http://www.orpha.net/ORDO/Orphanet_29 Mevalonic aciduria 'Mevalonic aciduria' SubClassOf 'Mevalonate kinase deficiency' 'Mevalonic aciduria' SubClassOf 'Mevalonate kinase deficiency' http://www.orpha.net/ORDO/Orphanet_169150 Immunodeficiency due to a late component of complements deficiency 'Immunodeficiency due to a late component of complements deficiency' SubClassOf 'complement deficiency' http://www.orpha.net/ORDO/Orphanet_20 3-hydroxy-3-methylglutaric aciduria '3-hydroxy-3-methylglutaric aciduria' SubClassOf 'disorder of fatty acid oxidation and ketogenesis' '3-hydroxy-3-methylglutaric aciduria' SubClassOf 'Classic organic aciduria' '3-hydroxy-3-methylglutaric aciduria' SubClassOf 'Disorder of ketone body metabolism' '3-hydroxy-3-methylglutaric aciduria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_22 4-hydroxybutyric aciduria '4-hydroxybutyric aciduria' SubClassOf 'Disorder of gamma-aminobutyric acid metabolism' '4-hydroxybutyric aciduria' SubClassOf 'Neurometabolic disease' '4-hydroxybutyric aciduria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_206634 Genetic skeletal muscle disease 'Genetic skeletal muscle disease' SubClassOf 'muscle tissue disorder' http://www.orpha.net/ORDO/Orphanet_206644 Progressive muscular dystrophy 'Progressive muscular dystrophy' SubClassOf 'Muscular dystrophy' 'Progressive muscular dystrophy' SubClassOf 'Muscular dystrophy' http://www.orpha.net/ORDO/Orphanet_206647 Myotonic dystrophy 'Myotonic dystrophy' SubClassOf 'Progressive muscular dystrophy' 'Myotonic dystrophy' SubClassOf 'Myotonic syndrome' 'Myotonic dystrophy' SubClassOf 'Progressive muscular dystrophy' 'Myotonic dystrophy' SubClassOf 'Myotonic syndrome' http://www.orpha.net/ORDO/Orphanet_206656 Non-dystrophic myopathy 'Non-dystrophic myopathy' SubClassOf 'Genetic skeletal muscle disease' 'Non-dystrophic myopathy' SubClassOf 'myopathy' 'Non-dystrophic myopathy' SubClassOf 'Genetic skeletal muscle disease' http://www.orpha.net/ORDO/Orphanet_206650 Autosomal dominant distal myopathy 'Autosomal dominant distal myopathy' SubClassOf 'Distal myopathy' 'Autosomal dominant distal myopathy' SubClassOf 'autosomal dominant disease' 'Autosomal dominant distal myopathy' SubClassOf 'Distal myopathy' http://www.orpha.net/ORDO/Orphanet_206653 Autosomal recessive distal myopathy 'Autosomal recessive distal myopathy' SubClassOf 'autosomal recessive disease' 'Autosomal recessive distal myopathy' SubClassOf 'Distal myopathy' 'Autosomal recessive distal myopathy' SubClassOf 'Distal myopathy' http://www.ebi.ac.uk/efo/EFO_0004777 alcohol withdrawal 'alcohol withdrawal' SubClassOf 'substance withdrawal syndrome' 'alcohol withdrawal' SubClassOf 'substance withdrawal syndrome' http://www.orpha.net/ORDO/Orphanet_206662 Inclusion myopathy 'Inclusion myopathy' SubClassOf 'Non-dystrophic myopathy' 'Inclusion myopathy' SubClassOf 'Non-dystrophic myopathy' http://purl.obolibrary.org/obo/MONDO_0041182 polymorphic light eruption 'polymorphic light eruption' SubClassOf 'photosensitivity disease' 'polymorphic light eruption' SubClassOf 'photosensitivity disease' http://www.orpha.net/ORDO/Orphanet_157215 Hereditary hypophosphatemic rickets with hypercalciuria 'Hereditary hypophosphatemic rickets with hypercalciuria' SubClassOf 'hereditary hypophosphatemic rickets' http://www.orpha.net/ORDO/Orphanet_363534 Mitochondrial DNA depletion syndrome, hepatocerebrorenal form 'Mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf 'Genetic renal tubular disease' 'Mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf 'Neurometabolic disease' 'Mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf 'Mitochondrial DNA depletion syndrome, hepatocerebral form' 'Mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf 'Genetic renal tubular disease' 'Mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf 'Neurometabolic disease' 'Mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf 'Mitochondrial DNA depletion syndrome, hepatocerebral form' http://www.orpha.net/ORDO/Orphanet_363528 Intellectual disability-strabismus syndrome 'Intellectual disability-strabismus syndrome' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_363540 Leukoencephalopathy with mild cerebellar ataxia and white matter edema 'Leukoencephalopathy with mild cerebellar ataxia and white matter edema' SubClassOf 'Leukodystrophy' 'Leukoencephalopathy with mild cerebellar ataxia and white matter edema' SubClassOf 'Leukodystrophy' http://www.orpha.net/ORDO/Orphanet_363543 Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency 'Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency' SubClassOf 'Qualitative or quantitative defects of desmin' 'Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency' SubClassOf 'Qualitative or quantitative defects of desmin' 'Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' http://www.orpha.net/ORDO/Orphanet_79408 Severe generalized recessive dystrophic epidermolysis bullosa 'Severe generalized recessive dystrophic epidermolysis bullosa' SubClassOf 'Dystrophic epidermolysis bullosa' 'Severe generalized recessive dystrophic epidermolysis bullosa' SubClassOf 'Hereditary epidermolysis bullosa associated with ocular features' 'Severe generalized recessive dystrophic epidermolysis bullosa' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79409 Recessive dystrophic epidermolysis bullosa inversa 'Recessive dystrophic epidermolysis bullosa inversa' SubClassOf 'recessive dystrophic epidermolysis bullosa' http://www.orpha.net/ORDO/Orphanet_79414 Woolly hair nevus 'Woolly hair nevus' SubClassOf 'Isolated hair shaft abnormality' 'Woolly hair nevus' SubClassOf 'epidermal appendage tumor' 'Woolly hair nevus' SubClassOf 'nevus, epidermal' 'Woolly hair nevus' SubClassOf 'Isolated hair shaft abnormality' http://www.orpha.net/ORDO/Orphanet_79411 Transient bullous dermolysis of the newborn 'Transient bullous dermolysis of the newborn' SubClassOf 'epidermolysis bullosa dystrophica' http://www.orpha.net/ORDO/Orphanet_79410 Pretibial dystrophic epidermolysis bullosa 'Pretibial dystrophic epidermolysis bullosa' SubClassOf 'epidermolysis bullosa dystrophica' http://www.orpha.net/ORDO/Orphanet_79404 Junctional epidermolysis bullosa, Herlitz type 'Junctional epidermolysis bullosa, Herlitz type' SubClassOf 'Junctional epidermolysis bullosa' 'Junctional epidermolysis bullosa, Herlitz type' DisjointWith 'Junctional epidermolysis bullosa, non-Herlitz type' 'Junctional epidermolysis bullosa, Herlitz type' SubClassOf 'Junctional epidermolysis bullosa' http://www.orpha.net/ORDO/Orphanet_79403 Junctional epidermolysis bullosa - pyloric atresia 'Junctional epidermolysis bullosa - pyloric atresia' SubClassOf 'Junctional epidermolysis bullosa' 'Junctional epidermolysis bullosa - pyloric atresia' SubClassOf 'Junctional epidermolysis bullosa' http://www.orpha.net/ORDO/Orphanet_79406 Late-onset junctional epidermolysis bullosa 'Late-onset junctional epidermolysis bullosa' SubClassOf 'Junctional epidermolysis bullosa' 'Late-onset junctional epidermolysis bullosa' SubClassOf 'Junctional epidermolysis bullosa' http://www.orpha.net/ORDO/Orphanet_79405 Junctional epidermolysis bullosa inversa 'Junctional epidermolysis bullosa inversa' SubClassOf 'Junctional epidermolysis bullosa' 'Junctional epidermolysis bullosa inversa' SubClassOf 'Junctional epidermolysis bullosa' http://www.orpha.net/ORDO/Orphanet_79400 Localized epidermolysis bullosa simplex 'Localized epidermolysis bullosa simplex' SubClassOf 'Basal epidermolysis bullosa simplex' 'Localized epidermolysis bullosa simplex' SubClassOf 'Basal epidermolysis bullosa simplex' http://www.orpha.net/ORDO/Orphanet_79402 Generalized junctional epidermolysis bullosa, non-Herlitz type 'Generalized junctional epidermolysis bullosa, non-Herlitz type' SubClassOf 'Junctional epidermolysis bullosa, non-Herlitz type' 'Generalized junctional epidermolysis bullosa, non-Herlitz type' SubClassOf 'Junctional epidermolysis bullosa, non-Herlitz type' http://www.orpha.net/ORDO/Orphanet_79401 Epidermolysis bullosa simplex, Ogna type 'Epidermolysis bullosa simplex, Ogna type' SubClassOf 'Basal epidermolysis bullosa simplex' 'Epidermolysis bullosa simplex, Ogna type' SubClassOf 'Basal epidermolysis bullosa simplex' http://www.orpha.net/ORDO/Orphanet_280586 Chondrodysplasia with joint dislocations, gPAPP type 'Chondrodysplasia with joint dislocations, gPAPP type' SubClassOf 'musculoskeletal system disease' http://www.orpha.net/ORDO/Orphanet_280598 Hereditary sensorimotor neuropathy with hyperelastic skin 'Hereditary sensorimotor neuropathy with hyperelastic skin' SubClassOf 'Autosomal dominant hereditary demyelinating motor and sensory neuropathy' 'Hereditary sensorimotor neuropathy with hyperelastic skin' SubClassOf 'Hereditary motor and sensory neuropathy' http://www.orpha.net/ORDO/Orphanet_79459 Follicular atrophoderma-basal cell carcinoma 'Follicular atrophoderma-basal cell carcinoma' SubClassOf 'Bazex-Dupré-Christol syndrome' 'Follicular atrophoderma-basal cell carcinoma' SubClassOf 'Bazex-Dupré-Christol syndrome' http://www.orpha.net/ORDO/Orphanet_79452 Milroy disease 'Milroy disease' SubClassOf 'Primary lymphedema' 'Milroy disease' EquivalentTo 'Lymphedema' and ('has modifier' some 'inherited') 'Milroy disease' SubClassOf 'Genetic vascular anomaly' 'Milroy disease' SubClassOf 'Primary lymphedema' http://www.orpha.net/ORDO/Orphanet_79447 X-linked lethal multiple pterygium syndrome 'X-linked lethal multiple pterygium syndrome' SubClassOf 'Lethal multiple pterygium syndrome' 'X-linked lethal multiple pterygium syndrome' SubClassOf 'X-linked disease' 'X-linked lethal multiple pterygium syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79444 Pseudohypoparathyroidism type 1C 'Pseudohypoparathyroidism type 1C' SubClassOf 'Pseudohypoparathyroidism' 'Pseudohypoparathyroidism type 1C' SubClassOf 'Acromelic dysplasia' 'Pseudohypoparathyroidism type 1C' SubClassOf 'primary avascular necrosis' 'Pseudohypoparathyroidism type 1C' SubClassOf 'Syndromic obesity' 'Pseudohypoparathyroidism type 1C' SubClassOf 'dermis disorder' 'Pseudohypoparathyroidism type 1C' SubClassOf 'Avascular necrosis of genetic origin' http://www.orpha.net/ORDO/Orphanet_79443 Pseudohypoparathyroidism type 1A 'Pseudohypoparathyroidism type 1A' SubClassOf 'Albright hereditary osteodystrophy' 'Pseudohypoparathyroidism type 1A' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79445 Pseudopseudohypoparathyroidism 'Pseudopseudohypoparathyroidism' SubClassOf 'Syndromic obesity' 'Pseudopseudohypoparathyroidism' SubClassOf 'Pseudohypoparathyroidism' 'Pseudopseudohypoparathyroidism' SubClassOf 'Acromelic dysplasia' 'Pseudopseudohypoparathyroidism' SubClassOf 'dermis disorder' http://www.orpha.net/ORDO/Orphanet_79433 Oculocutaneous albinism type 3 'Oculocutaneous albinism type 3' SubClassOf 'Oculocutaneous albinism' 'Oculocutaneous albinism type 3' SubClassOf 'Oculocutaneous albinism' http://www.orpha.net/ORDO/Orphanet_79432 Oculocutaneous albinism type 2 'Oculocutaneous albinism type 2' SubClassOf 'Oculocutaneous albinism' 'Oculocutaneous albinism type 2' SubClassOf 'Oculocutaneous albinism' http://www.orpha.net/ORDO/Orphanet_79435 Oculocutaneous albinism type 4 'Oculocutaneous albinism type 4' SubClassOf 'Oculocutaneous albinism' 'Oculocutaneous albinism type 4' SubClassOf 'Oculocutaneous albinism' http://www.orpha.net/ORDO/Orphanet_79434 Oculocutaneous albinism type 1B 'Oculocutaneous albinism type 1B' SubClassOf 'Oculocutaneous albinism type 1A' 'Oculocutaneous albinism type 1B' SubClassOf 'Oculocutaneous albinism type 1' http://www.orpha.net/ORDO/Orphanet_79431 Oculocutaneous albinism type 1A 'Oculocutaneous albinism type 1A' SubClassOf 'Oculocutaneous albinism type 1' 'Oculocutaneous albinism type 1A' SubClassOf 'autosomal recessive ocular albinism' 'Oculocutaneous albinism type 1A' SubClassOf 'Oculocutaneous albinism type 1' http://www.orpha.net/ORDO/Orphanet_79430 Hermansky-Pudlak syndrome 'Hermansky-Pudlak syndrome' SubClassOf 'Disorder of lysosomal-related organelles' 'Hermansky-Pudlak syndrome' SubClassOf 'Dense granule disease' 'Hermansky-Pudlak syndrome' SubClassOf 'syndromic disease' 'Hermansky-Pudlak syndrome' SubClassOf 'Syndromic oculocutaneous albinism' 'Hermansky-Pudlak syndrome' SubClassOf 'Rare genetic coagulation disorder' 'Hermansky-Pudlak syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_314647 Non-progressive cerebellar ataxia with intellectual disability 'Non-progressive cerebellar ataxia with intellectual disability' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Non-progressive cerebellar ataxia with intellectual disability' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' http://www.orpha.net/ORDO/Orphanet_79269 Sanfilippo syndrome type A 'Sanfilippo syndrome type A' SubClassOf 'Mucopolysaccharidosis type 3' 'Sanfilippo syndrome type A' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79264 Juvenile neuronal ceroid lipofuscinosis 'Juvenile neuronal ceroid lipofuscinosis' SubClassOf 'Neuronal ceroid lipofuscinosis' 'Juvenile neuronal ceroid lipofuscinosis' SubClassOf 'Progressive myoclonic epilepsy' 'Juvenile neuronal ceroid lipofuscinosis' SubClassOf 'cerebral lipidosis with dementia' 'Juvenile neuronal ceroid lipofuscinosis' SubClassOf 'Neuronal ceroid lipofuscinosis' 'Juvenile neuronal ceroid lipofuscinosis' SubClassOf 'Progressive myoclonic epilepsy' http://www.orpha.net/ORDO/Orphanet_79263 Infantile neuronal ceroid lipofuscinosis 'Infantile neuronal ceroid lipofuscinosis' SubClassOf 'Progressive myoclonic epilepsy' 'Infantile neuronal ceroid lipofuscinosis' SubClassOf 'Infantile epilepsy syndrome' 'Infantile neuronal ceroid lipofuscinosis' SubClassOf 'cerebral lipidosis with dementia' 'Infantile neuronal ceroid lipofuscinosis' SubClassOf 'Neuronal ceroid lipofuscinosis' 'Infantile neuronal ceroid lipofuscinosis' SubClassOf 'Progressive myoclonic epilepsy' 'Infantile neuronal ceroid lipofuscinosis' SubClassOf 'Neuronal ceroid lipofuscinosis' http://www.orpha.net/ORDO/Orphanet_79262 Adult neuronal ceroid lipofuscinosis 'Adult neuronal ceroid lipofuscinosis' SubClassOf 'Progressive myoclonic epilepsy' 'Adult neuronal ceroid lipofuscinosis' SubClassOf 'Neuronal ceroid lipofuscinosis' 'Adult neuronal ceroid lipofuscinosis' SubClassOf 'cerebral lipidosis with dementia' 'Adult neuronal ceroid lipofuscinosis' SubClassOf 'Progressive myoclonic epilepsy' 'Adult neuronal ceroid lipofuscinosis' SubClassOf 'Neuronal ceroid lipofuscinosis' http://www.orpha.net/ORDO/Orphanet_314655 5q31.3 microdeletion syndrome '5q31.3 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 5' '5q31.3 microdeletion syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '5q31.3 microdeletion syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_280553 Fatal infantile hypertonic myofibrillar myopathy 'Fatal infantile hypertonic myofibrillar myopathy' SubClassOf 'hypercontractile muscle stiffness syndrome' 'Fatal infantile hypertonic myofibrillar myopathy' SubClassOf 'Alpha-crystallinopathy' http://www.orpha.net/ORDO/Orphanet_314652 Autosomal dominant beta2-microglobulinic amyloidosis 'Autosomal dominant beta2-microglobulinic amyloidosis' SubClassOf 'hereditary amyloidosis' 'Autosomal dominant beta2-microglobulinic amyloidosis' SubClassOf 'ABeta2M amyloidosis' http://www.orpha.net/ORDO/Orphanet_280558 Warsaw breakage syndrome 'Warsaw breakage syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Warsaw breakage syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Warsaw breakage syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79257 GM1 gangliosidosis type 3 'GM1 gangliosidosis type 3' SubClassOf 'GM1 gangliosidosis' 'GM1 gangliosidosis type 3' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79256 GM1 gangliosidosis type 2 'GM1 gangliosidosis type 2' SubClassOf 'GM1 gangliosidosis' 'GM1 gangliosidosis type 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type b 'Glycogen storage disease due to glucose-6-phosphatase deficiency type b' SubClassOf 'Constitutional neutropenia' 'Glycogen storage disease due to glucose-6-phosphatase deficiency type b' SubClassOf 'glycogen storage disease type 1 due to SLC37A4 mutation' 'Glycogen storage disease due to glucose-6-phosphatase deficiency type b' SubClassOf 'Glycogen storage disease due to glucose-6-phosphatase deficiency' http://www.orpha.net/ORDO/Orphanet_79258 Glycogen storage disease due to glucose-6-phosphatase deficiency type a 'Glycogen storage disease due to glucose-6-phosphatase deficiency type a' SubClassOf 'Glycogen storage disease due to glucose-6-phosphatase deficiency' 'Glycogen storage disease due to glucose-6-phosphatase deficiency type a' SubClassOf 'Glycogen storage disease due to glucose-6-phosphatase deficiency' http://www.orpha.net/ORDO/Orphanet_79253 Mild phenylketonuria 'Mild phenylketonuria' SubClassOf 'Phenylketonuria' 'Mild phenylketonuria' SubClassOf 'Phenylketonuria' http://www.orpha.net/ORDO/Orphanet_79255 GM1 gangliosidosis type 1 'GM1 gangliosidosis type 1' SubClassOf 'GM1 gangliosidosis' 'GM1 gangliosidosis type 1' SubClassOf 'Rare syndromic dyslipidemia' 'GM1 gangliosidosis type 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79254 Classical phenylketonuria 'Classical phenylketonuria' SubClassOf 'Phenylketonuria' 'Classical phenylketonuria' SubClassOf 'Phenylketonuria' http://www.orpha.net/ORDO/Orphanet_314621 Duplication of the pituitary gland 'Duplication of the pituitary gland' SubClassOf 'endocrine system disease' 'Duplication of the pituitary gland' SubClassOf 'Midline cerebral malformation' 'Duplication of the pituitary gland' SubClassOf 'Midline cerebral malformation' http://www.orpha.net/ORDO/Orphanet_280569 Rapidly progressive glomerulonephritis 'Rapidly progressive glomerulonephritis' SubClassOf 'glomerulonephritis' 'Rapidly progressive glomerulonephritis' SubClassOf 'hereditary nephritis' 'Rapidly progressive glomerulonephritis' SubClassOf 'Primary glomerular disease' 'Rapidly progressive glomerulonephritis' SubClassOf 'Primary glomerular disease' http://www.orpha.net/ORDO/Orphanet_314629 CLN11 disease 'CLN11 disease' SubClassOf 'Adult neuronal ceroid lipofuscinosis' 'CLN11 disease' SubClassOf 'Adult neuronal ceroid lipofuscinosis' http://www.orpha.net/ORDO/Orphanet_79246 Pyruvate dehydrogenase phosphatase deficiency 'Pyruvate dehydrogenase phosphatase deficiency' SubClassOf 'Pyruvate dehydrogenase deficiency' 'Pyruvate dehydrogenase phosphatase deficiency' SubClassOf 'Pyruvate dehydrogenase deficiency' http://www.orpha.net/ORDO/Orphanet_79242 Holocarboxylase synthetase deficiency 'Holocarboxylase synthetase deficiency' SubClassOf 'Multiple carboxylase deficiency' 'Holocarboxylase synthetase deficiency' SubClassOf 'Disorder of branched-chain amino acid metabolism' 'Holocarboxylase synthetase deficiency' SubClassOf 'metabolic epilepsy' 'Holocarboxylase synthetase deficiency' SubClassOf 'Cerebral organic aciduria' 'Holocarboxylase synthetase deficiency' SubClassOf 'Multiple carboxylase deficiency' http://www.orpha.net/ORDO/Orphanet_79241 Biotinidase deficiency 'Biotinidase deficiency' SubClassOf 'Genetic peripheral neuropathy' 'Biotinidase deficiency' SubClassOf 'metabolic epilepsy' 'Biotinidase deficiency' SubClassOf 'Cerebral organic aciduria' 'Biotinidase deficiency' SubClassOf 'Disorder of other vitamins and cofactors metabolism and transport' 'Biotinidase deficiency' SubClassOf 'Multiple carboxylase deficiency' 'Biotinidase deficiency' SubClassOf 'vitamin metabolic disorder' 'Biotinidase deficiency' SubClassOf 'Disorder of other vitamins and cofactors metabolism and transport' 'Biotinidase deficiency' SubClassOf 'Multiple carboxylase deficiency' http://www.orpha.net/ORDO/Orphanet_79244 Pyruvate dehydrogenase E2 deficiency 'Pyruvate dehydrogenase E2 deficiency' SubClassOf 'Pyruvate dehydrogenase deficiency' 'Pyruvate dehydrogenase E2 deficiency' SubClassOf 'Pyruvate dehydrogenase deficiency' http://www.orpha.net/ORDO/Orphanet_79243 Pyruvate dehydrogenase E1-alpha deficiency 'Pyruvate dehydrogenase E1-alpha deficiency' SubClassOf 'Pyruvate dehydrogenase deficiency' 'Pyruvate dehydrogenase E1-alpha deficiency' SubClassOf 'Pyruvate dehydrogenase deficiency' http://www.orpha.net/ORDO/Orphanet_79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency 'Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency' SubClassOf 'Muscular glycogenosis' 'Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency' SubClassOf 'Rare metabolic liver disease' 'Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency' SubClassOf 'Glycogen storage disease due to phosphorylase kinase deficiency' 'Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_314632 Parkinsonism due to ATP13A2 deficiency 'Parkinsonism due to ATP13A2 deficiency' SubClassOf 'Kufor-Rakeb syndrome' 'Parkinsonism due to ATP13A2 deficiency' SubClassOf 'Juvenile neuronal ceroid lipofuscinosis' 'Parkinsonism due to ATP13A2 deficiency' SubClassOf 'Neuronal ceroid lipofuscinosis' 'Parkinsonism due to ATP13A2 deficiency' SubClassOf 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_280576 Nestor-Guillermo progeria syndrome 'Nestor-Guillermo progeria syndrome' SubClassOf 'Genetic progeroid syndrome' 'Nestor-Guillermo progeria syndrome' SubClassOf 'autosomal recessive disease' 'Nestor-Guillermo progeria syndrome' SubClassOf 'Primary osteolysis' 'Nestor-Guillermo progeria syndrome' SubClassOf 'progeria' 'Nestor-Guillermo progeria syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/DOID_13406 pulmonary sarcoidosis 'pulmonary sarcoidosis' SubClassOf 'Sarcoidosis' 'pulmonary sarcoidosis' SubClassOf 'Sarcoidosis' 'pulmonary sarcoidosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019338 http://www.orpha.net/ORDO/Orphanet_314637 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 'Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency' SubClassOf 'combined oxidative phosphorylation deficiency' http://www.orpha.net/ORDO/Orphanet_79239 Classic galactosemia 'Classic galactosemia' SubClassOf 'Non-acquired premature ovarian failure' 'Classic galactosemia' SubClassOf 'Galactosemia' 'Classic galactosemia' SubClassOf 'Non-acquired premature ovarian failure' 'Classic galactosemia' SubClassOf 'Galactosemia' http://www.orpha.net/ORDO/Orphanet_79238 Galactose epimerase deficiency 'Galactose epimerase deficiency' SubClassOf 'Galactosemia' 'Galactose epimerase deficiency' SubClassOf 'Galactosemia' http://www.orpha.net/ORDO/Orphanet_79235 Crigler-Najjar syndrome type 2 'Crigler-Najjar syndrome type 2' SubClassOf 'Crigler-Najjar syndrome' 'Crigler-Najjar syndrome type 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79234 Crigler-Najjar syndrome type 1 'Crigler-Najjar syndrome type 1' SubClassOf 'Crigler-Najjar syndrome' 'Crigler-Najjar syndrome type 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79237 Galactokinase deficiency 'Galactokinase deficiency' SubClassOf 'Galactosemia' 'Galactokinase deficiency' SubClassOf 'Galactosemia' http://www.orpha.net/ORDO/Orphanet_79230 Hemochromatosis type 2 'Hemochromatosis type 2' SubClassOf 'hereditary hemochromatosis' 'Hemochromatosis type 2' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency 'Hypoxanthine guanine phosphoribosyltransferase partial deficiency' SubClassOf 'Hypoxanthine-guanine phosphoribosyltransferase deficiency' 'Hypoxanthine guanine phosphoribosyltransferase partial deficiency' SubClassOf 'Hypoxanthine-guanine phosphoribosyltransferase deficiency' http://www.orpha.net/ORDO/Orphanet_363611 Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome 'Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf 'intellectual disability, autosomal dominant' 'Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf 'syndromic intellectual disability' 'Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf 'congenital nervous system disorder' 'Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0018609 syndromic hereditary optic neuropathy 'syndromic hereditary optic neuropathy' SubClassOf 'Optic neuropathy' 'syndromic hereditary optic neuropathy' EquivalentTo 'Optic neuropathy' and ('has modifier' some 'has a syndromic presentation') 'syndromic hereditary optic neuropathy' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0020249 and ('has modifier' some 'has a syndromic presentation') 'syndromic hereditary optic neuropathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020249 http://www.orpha.net/ORDO/Orphanet_314603 Autosomal recessive spastic ataxia with leukoencephalopathy 'Autosomal recessive spastic ataxia with leukoencephalopathy' SubClassOf 'Autosomal recessive spastic ataxia' 'Autosomal recessive spastic ataxia with leukoencephalopathy' SubClassOf 'Autosomal recessive spastic ataxia' http://purl.obolibrary.org/obo/MONDO_0018605 disorders of pentose/polyol metabolism 'disorders of pentose/polyol metabolism' SubClassOf 'Disorder of carbohydrate metabolism' 'disorders of pentose/polyol metabolism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019214 http://www.orpha.net/ORDO/Orphanet_363623 Autosomal recessive limb-girdle muscular dystrophy type 2T 'Autosomal recessive limb-girdle muscular dystrophy type 2T' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2T' SubClassOf 'myopathy caused by variation in GMPPB' 'Autosomal recessive limb-girdle muscular dystrophy type 2T' SubClassOf 'Disorder of O-mannosylglycan synthesis' 'Autosomal recessive limb-girdle muscular dystrophy type 2T' SubClassOf 'muscular dystrophy-dystroglycanopathy, type C' 'Autosomal recessive limb-girdle muscular dystrophy type 2T' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2T' SubClassOf 'Disorder of O-mannosylglycan synthesis' http://www.orpha.net/ORDO/Orphanet_182098 pneumoconiosis 'pneumoconiosis' SubClassOf 'bacterial disease' 'pneumoconiosis' SubClassOf 'has_disease_location' some 'lung' 'pneumoconiosis' SubClassOf 'primary interstitial lung disease specific to adulthood' 'pneumoconiosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0018614 undetermined early-onset epileptic encephalopathy 'undetermined early-onset epileptic encephalopathy' SubClassOf 'Infantile epilepsy syndrome' 'undetermined early-onset epileptic encephalopathy' SubClassOf 'Neonatal epilepsy syndrome' 'undetermined early-onset epileptic encephalopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020070 'undetermined early-onset epileptic encephalopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020071 http://www.orpha.net/ORDO/Orphanet_169095 Alymphoid cystic thymic dysgenesis 'Alymphoid cystic thymic dysgenesis' SubClassOf 'has modifier' some 'congenital' 'Alymphoid cystic thymic dysgenesis' SubClassOf 'Severe combined immunodeficiency' 'Alymphoid cystic thymic dysgenesis' SubClassOf 'Combined T and B cell immunodeficiency' http://www.orpha.net/ORDO/Orphanet_363618 LMNA-related cardiocutaneous progeria syndrome 'LMNA-related cardiocutaneous progeria syndrome' SubClassOf 'heart disease' 'LMNA-related cardiocutaneous progeria syndrome' SubClassOf 'Premature aging' 'LMNA-related cardiocutaneous progeria syndrome' SubClassOf 'Rare genetic cardiac disease' 'LMNA-related cardiocutaneous progeria syndrome' SubClassOf 'genetic disorder' 'LMNA-related cardiocutaneous progeria syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79299 Hyperinsulinism due to glucokinase deficiency 'Hyperinsulinism due to glucokinase deficiency' SubClassOf 'Diazoxide-sensitive diffuse hyperinsulinism' 'Hyperinsulinism due to glucokinase deficiency' SubClassOf 'Disorder of glycolysis' 'Hyperinsulinism due to glucokinase deficiency' SubClassOf 'Diazoxide-sensitive diffuse hyperinsulinism' 'Hyperinsulinism due to glucokinase deficiency' SubClassOf 'Disorder of glycolysis' http://www.orpha.net/ORDO/Orphanet_79298 Diazoxide-resistant focal hyperinsulinism 'Diazoxide-resistant focal hyperinsulinism' SubClassOf 'Diazoxide-resistant hyperinsulinism' 'Diazoxide-resistant focal hyperinsulinism' SubClassOf 'Diazoxide-resistant hyperinsulinism' http://www.orpha.net/ORDO/Orphanet_169090 Combined immunodeficiency due to CRAC channel dysfunction 'Combined immunodeficiency due to CRAC channel dysfunction' SubClassOf 'Primary immunodeficiency due to a defect in adaptive immunity' 'Combined immunodeficiency due to CRAC channel dysfunction' SubClassOf 'channelopathy' http://www.orpha.net/ORDO/Orphanet_79293 Familial LCAT deficiency 'Familial LCAT deficiency' SubClassOf 'hypolipoproteinemia' 'Familial LCAT deficiency' SubClassOf 'LCAT deficiency' 'Familial LCAT deficiency' SubClassOf 'familial hemolytic anemia' 'Familial LCAT deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018999 'Familial LCAT deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019052 http://www.orpha.net/ORDO/Orphanet_79292 Fish-eye disease 'Fish-eye disease' SubClassOf 'LCAT deficiency' 'Fish-eye disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018999 http://www.orpha.net/ORDO/Orphanet_79280 Alpha-N-acetylgalactosaminidase deficiency type 2 'Alpha-N-acetylgalactosaminidase deficiency type 2' SubClassOf 'Alpha-N-acetylgalactosaminidase deficiency' 'Alpha-N-acetylgalactosaminidase deficiency type 2' SubClassOf 'Alpha-N-acetylgalactosaminidase deficiency' http://www.orpha.net/ORDO/Orphanet_79282 Methylmalonic acidemia with homocystinuria, type cblC 'Methylmalonic acidemia with homocystinuria, type cblC' SubClassOf 'Methylmalonic acidemia with homocystinuria' 'Methylmalonic acidemia with homocystinuria, type cblC' SubClassOf 'Genetic peripheral neuropathy' 'Methylmalonic acidemia with homocystinuria, type cblC' SubClassOf 'Methylmalonic acidemia with homocystinuria' http://www.orpha.net/ORDO/Orphanet_79281 Alpha-N-acetylgalactosaminidase deficiency type 3 'Alpha-N-acetylgalactosaminidase deficiency type 3' SubClassOf 'Alpha-N-acetylgalactosaminidase deficiency' 'Alpha-N-acetylgalactosaminidase deficiency type 3' SubClassOf 'Alpha-N-acetylgalactosaminidase deficiency' http://www.orpha.net/ORDO/Orphanet_79284 Methylmalonic acidemia with homocystinuria type cblF 'Methylmalonic acidemia with homocystinuria type cblF' SubClassOf 'Methylmalonic acidemia with homocystinuria' 'Methylmalonic acidemia with homocystinuria type cblF' SubClassOf 'Methylmalonic acidemia with homocystinuria' http://www.orpha.net/ORDO/Orphanet_79283 Methylmalonic acidemia with homocystinuria, type cblD 'Methylmalonic acidemia with homocystinuria, type cblD' SubClassOf 'Methylmalonic acidemia with homocystinuria' 'Methylmalonic acidemia with homocystinuria, type cblD' SubClassOf 'Methylmalonic acidemia with homocystinuria' http://www.orpha.net/ORDO/Orphanet_182079 ARX-related epileptic encephalopathy 'ARX-related epileptic encephalopathy' SubClassOf 'Monogenic disease with epilepsy' 'ARX-related epileptic encephalopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0018637 familial chylomicronemia syndrome 'familial chylomicronemia syndrome' SubClassOf 'Major hypertriglyceridemia' 'familial chylomicronemia syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015902 http://purl.obolibrary.org/obo/MONDO_0018639 caudal regression-sirenomelia spectrum 'caudal regression-sirenomelia spectrum' SubClassOf 'Syndromic anorectal malformation' 'caudal regression-sirenomelia spectrum' SubClassOf 'Syndromic urogenital tract malformation' 'caudal regression-sirenomelia spectrum' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015246 'caudal regression-sirenomelia spectrum' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015620 http://purl.obolibrary.org/obo/MONDO_0018634 hereditary amyloidosis 'hereditary amyloidosis' SubClassOf 'Inborn errors of metabolism' 'hereditary amyloidosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019052 http://www.orpha.net/ORDO/Orphanet_182076 Syndromic neurometabolic disease with X-linked intellectual disability 'Syndromic neurometabolic disease with X-linked intellectual disability' SubClassOf 'X-linked syndromic intellectual disability' 'Syndromic neurometabolic disease with X-linked intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 http://www.orpha.net/ORDO/Orphanet_79279 Alpha-N-acetylgalactosaminidase deficiency type 1 'Alpha-N-acetylgalactosaminidase deficiency type 1' SubClassOf 'Alpha-N-acetylgalactosaminidase deficiency' 'Alpha-N-acetylgalactosaminidase deficiency type 1' SubClassOf 'Alpha-N-acetylgalactosaminidase deficiency' http://www.orpha.net/ORDO/Orphanet_79278 Erythropoietic protoporphyria 'Erythropoietic protoporphyria' SubClassOf 'Acute hepatic porphyria' 'Erythropoietic protoporphyria' SubClassOf 'Porphyria' http://www.orpha.net/ORDO/Orphanet_79277 Congenital erythropoietic porphyria 'Congenital erythropoietic porphyria' SubClassOf 'inherited porphyria' 'Congenital erythropoietic porphyria' SubClassOf 'familial hemolytic anemia' 'Congenital erythropoietic porphyria' SubClassOf 'anemia due to erythrocyte enzyme disorder' http://www.orpha.net/ORDO/Orphanet_79276 Acute intermittent porphyria 'Acute intermittent porphyria' SubClassOf 'inherited porphyria' 'Acute intermittent porphyria' SubClassOf 'Acute hepatic porphyria' 'Acute intermittent porphyria' SubClassOf 'Acute hepatic porphyria' http://www.orpha.net/ORDO/Orphanet_79271 Sanfilippo syndrome type C 'Sanfilippo syndrome type C' SubClassOf 'Mucopolysaccharidosis type 3' 'Sanfilippo syndrome type C' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79270 Sanfilippo syndrome type B 'Sanfilippo syndrome type B' SubClassOf 'Mucopolysaccharidosis type 3' 'Sanfilippo syndrome type B' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79273 Hereditary coproporphyria 'Hereditary coproporphyria' SubClassOf 'inherited porphyria' 'Hereditary coproporphyria' SubClassOf 'Acute hepatic porphyria' 'Hereditary coproporphyria' SubClassOf 'Acute hepatic porphyria' http://www.orpha.net/ORDO/Orphanet_79272 Sanfilippo syndrome type D 'Sanfilippo syndrome type D' SubClassOf 'Mucopolysaccharidosis type 3' 'Sanfilippo syndrome type D' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_231531 Hermansky-Pudlak syndrome type 7 'Hermansky-Pudlak syndrome type 7' SubClassOf 'Hermansky-Pudlak syndrome' 'Hermansky-Pudlak syndrome type 7' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019312 http://purl.obolibrary.org/obo/MONDO_0004001 compartment syndrome 'compartment syndrome' SubClassOf 'syndromic disease' 'compartment syndrome' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_182040 Medullar aplasia 'Medullar aplasia' SubClassOf 'Rare constitutional anemia' 'Medullar aplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_182050 MYH9-related disease 'MYH9-related disease' SubClassOf 'inherited bleeding disorder, platelet-type' 'MYH9-related disease' SubClassOf 'syndromic disease' 'MYH9-related disease' SubClassOf 'syndromic constitutional thrombocytopenia' 'MYH9-related disease' SubClassOf 'Primary glomerular disease' 'MYH9-related disease' SubClassOf 'Primary glomerular disease' http://www.orpha.net/ORDO/Orphanet_206580 Autosomal recessive lower motor neuron disease with childhood onset 'Autosomal recessive lower motor neuron disease with childhood onset' SubClassOf 'Generalized bulbospinal muscular atrophy' 'Autosomal recessive lower motor neuron disease with childhood onset' SubClassOf 'Generalized bulbospinal muscular atrophy' http://www.orpha.net/ORDO/Orphanet_206583 Adult polyglucosan body disease 'Adult polyglucosan body disease' SubClassOf 'Genetic peripheral neuropathy' 'Adult polyglucosan body disease' SubClassOf 'Glycogen storage disease due to glycogen branching enzyme deficiency' 'Adult polyglucosan body disease' SubClassOf 'Glycogen storage disease due to glycogen branching enzyme deficiency' http://purl.obolibrary.org/obo/MONDO_0018653 Polymerase proofreading-related adenomatous polyposis 'Polymerase proofreading-related adenomatous polyposis' SubClassOf 'Attenuated familial adenomatous polyposis' 'Polymerase proofreading-related adenomatous polyposis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016362 http://www.orpha.net/ORDO/Orphanet_231556 Late-onset localized junctional epidermolysis bullosa - intellectual disability 'Late-onset localized junctional epidermolysis bullosa - intellectual disability' SubClassOf 'Junctional epidermolysis bullosa' 'Late-onset localized junctional epidermolysis bullosa - intellectual disability' SubClassOf 'Junctional epidermolysis bullosa' http://www.orpha.net/ORDO/Orphanet_206599 Isolated asymptomatic elevation of creatine phosphokinase 'Isolated asymptomatic elevation of creatine phosphokinase' SubClassOf 'Qualitative or quantitative defects of dystrophin' 'Isolated asymptomatic elevation of creatine phosphokinase' SubClassOf 'Qualitative or quantitative defects of caveolin-3' 'Isolated asymptomatic elevation of creatine phosphokinase' SubClassOf 'Qualitative or quantitative defects of dystrophin' 'Isolated asymptomatic elevation of creatine phosphokinase' SubClassOf 'Qualitative or quantitative defects of caveolin-3' http://www.orpha.net/ORDO/Orphanet_169085 Susceptibility to respiratory infections associated with CD8alpha chain mutation 'Susceptibility to respiratory infections associated with CD8alpha chain mutation' SubClassOf 'non-SCID combined immunodeficiency' 'Susceptibility to respiratory infections associated with CD8alpha chain mutation' SubClassOf 'Combined T and B cell immunodeficiency' http://www.orpha.net/ORDO/Orphanet_169082 Combined immunodeficiency due to CD3gamma deficiency 'Combined immunodeficiency due to CD3gamma deficiency' SubClassOf 'non-SCID combined immunodeficiency' 'Combined immunodeficiency due to CD3gamma deficiency' SubClassOf 'Combined T and B cell immunodeficiency' http://www.orpha.net/ORDO/Orphanet_169079 Cernunnos-XLF deficiency 'Cernunnos-XLF deficiency' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Cernunnos-XLF deficiency' SubClassOf 'T-B- severe combined immunodeficiency' 'Cernunnos-XLF deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0004033 familial ovarian carcinoma 'familial ovarian carcinoma' SubClassOf 'Familial ovarian cancer' 'familial ovarian carcinoma' SubClassOf 'ovarian carcinoma' 'familial ovarian carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016248 'familial ovarian carcinoma' SubClassOf 'ovarian carcinoma' http://purl.obolibrary.org/obo/MONDO_0018677 visceral heterotaxy 'visceral heterotaxy' SubClassOf 'syndromic disease' 'visceral heterotaxy' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_231537 Hermansky-Pudlak syndrome type 8 'Hermansky-Pudlak syndrome type 8' SubClassOf 'Hermansky-Pudlak syndrome' 'Hermansky-Pudlak syndrome type 8' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019312 http://purl.obolibrary.org/obo/MONDO_0004041 urothelial papilloma 'urothelial papilloma' SubClassOf 'transitional cell papilloma' 'urothelial papilloma' SubClassOf 'transitional cell papilloma' http://www.orpha.net/ORDO/Orphanet_314689 Combined immunodeficiency due to STK4 deficiency 'Combined immunodeficiency due to STK4 deficiency' SubClassOf 'non-SCID combined immunodeficiency' 'Combined immunodeficiency due to STK4 deficiency' SubClassOf 'Combined T and B cell immunodeficiency' 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 'Dysostosis of genetic origin' 'neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome' SubClassOf 'Rare genetic neurological disorder' 'neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015159 'neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043005 'neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018454 'neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.orpha.net/ORDO/Orphanet_314697 Acquired porencephaly 'Acquired porencephaly' SubClassOf 'Porencephaly' 'Acquired porencephaly' SubClassOf 'has modifier' some 'acquired' 'Acquired porencephaly' EquivalentTo 'Porencephaly' and ('has modifier' some 'acquired') 'Acquired porencephaly' SubClassOf 'Familial porencephaly' 'Acquired porencephaly' SubClassOf 'Porencephaly' http://www.orpha.net/ORDO/Orphanet_231568 Generalized dominant dystrophic epidermolysis bullosa 'Generalized dominant dystrophic epidermolysis bullosa' SubClassOf 'epidermolysis bullosa dystrophica' http://purl.obolibrary.org/obo/MONDO_0018696 corticobasal syndrome 'corticobasal syndrome' SubClassOf 'Genetic dementia' 'corticobasal syndrome' SubClassOf 'Genetic neurodegenerative disease' 'corticobasal syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024237 'corticobasal syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015547 http://purl.obolibrary.org/obo/MONDO_0018698 hereditary neuroendocrine tumor of small intestine 'hereditary neuroendocrine tumor of small intestine' SubClassOf 'Genetic endocrine tumor' 'hereditary neuroendocrine tumor of small intestine' SubClassOf 'Genetic digestive tract tumor' 'hereditary neuroendocrine tumor of small intestine' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017128 'hereditary neuroendocrine tumor of small intestine' SubClassOf http://purl.obolibrary.org/obo/MONDO_0025511 http://purl.obolibrary.org/obo/MONDO_0016030 Evans syndrome 'Evans syndrome' SubClassOf 'Anemia, Hemolytic, Autoimmune' 'Evans syndrome' SubClassOf 'syndromic disease' 'Evans syndrome' SubClassOf 'autoimmune thrombocytopenia' 'Evans syndrome' SubClassOf 'Anemia, Hemolytic, Autoimmune' 'Evans syndrome' SubClassOf 'syndromic disease' 'Evans syndrome' SubClassOf 'autoimmune thrombocytopenia' http://www.orpha.net/ORDO/Orphanet_314662 Segmental progressive overgrowth syndrome with fibroadipose hyperplasia 'Segmental progressive overgrowth syndrome with fibroadipose hyperplasia' SubClassOf 'Overgrowth syndrome' 'Segmental progressive overgrowth syndrome with fibroadipose hyperplasia' SubClassOf 'Overgrowth syndrome' http://purl.obolibrary.org/obo/MONDO_0004069 inborn mitochondrial metabolism disorder 'inborn mitochondrial metabolism disorder' SubClassOf 'Disorder of energy metabolism' 'inborn mitochondrial metabolism disorder' SubClassOf 'Developmental anomaly of metabolic origin' 'inborn mitochondrial metabolism disorder' SubClassOf 'Mitochondrial disease' 'inborn mitochondrial metabolism disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019243 'inborn mitochondrial metabolism disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044970 'inborn mitochondrial metabolism disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015327 http://www.ebi.ac.uk/efo/EFO_0004711 elephantiasis 'elephantiasis' SubClassOf 'Lymphedema' 'elephantiasis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019297 http://www.orpha.net/ORDO/Orphanet_314667 TMEM165-CDG 'TMEM165-CDG' SubClassOf 'Congenital disorder of glycosylation-related bone disorder' 'TMEM165-CDG' SubClassOf 'congenital nervous system disorder' 'TMEM165-CDG' SubClassOf 'Congenital disorder of glycosylation with hepatic involvement' 'TMEM165-CDG' SubClassOf 'Primary bone dysplasia with decreased bone density' 'TMEM165-CDG' SubClassOf 'Disorder of protein N-glycosylation' 'TMEM165-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'TMEM165-CDG' SubClassOf 'congenital disorder of glycosylation type II' 'TMEM165-CDG' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004719 pemphigus vulgaris 'pemphigus vulgaris' SubClassOf 'pemphigus' 'pemphigus vulgaris' SubClassOf 'pemphigus' http://www.orpha.net/ORDO/Orphanet_314679 Cerebro-facio-articular syndrome 'Cerebro-facio-articular syndrome' SubClassOf 'Rare genetic neurological disorder' 'Cerebro-facio-articular syndrome' SubClassOf 'congenital nervous system disorder' 'Cerebro-facio-articular syndrome' SubClassOf 'syndromic intellectual disability' 'Cerebro-facio-articular syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Cerebro-facio-articular syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.ebi.ac.uk/efo/EFO_0004708 nodular sclerosis Hodgkin lymphoma 'nodular sclerosis Hodgkin lymphoma' SubClassOf 'classic Hodgkin lymphoma' 'nodular sclerosis Hodgkin lymphoma' SubClassOf 'classic Hodgkin lymphoma' http://www.orpha.net/ORDO/Orphanet_169100 Immunodeficiency due to CD25 deficiency 'Immunodeficiency due to CD25 deficiency' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0004087 basaloid large cell lung carcinoma 'basaloid large cell lung carcinoma' SubClassOf 'large cell lung carcinoma' 'basaloid large cell lung carcinoma' SubClassOf 'large cell lung carcinoma' http://purl.obolibrary.org/obo/MONDO_0004093 esophageal basaloid carcinoma 'esophageal basaloid carcinoma' SubClassOf 'basaloid squamous cell carcinoma' 'esophageal basaloid carcinoma' SubClassOf 'basaloid squamous cell carcinoma' http://www.ebi.ac.uk/efo/EFO_0004616 osteoarthritis, knee 'osteoarthritis, knee' SubClassOf 'osteoarthritis' 'osteoarthritis, knee' SubClassOf 'osteoarthritis' http://purl.obolibrary.org/obo/MONDO_0016075 filariasis 'filariasis' SubClassOf 'Helminthiasis' 'filariasis' SubClassOf 'Helminthiasis' http://www.orpha.net/ORDO/Orphanet_169110 Immunoglobulin heavy chain deficiency 'Immunoglobulin heavy chain deficiency' SubClassOf 'Immunodeficiency predominantly affecting antibody production' http://purl.obolibrary.org/obo/MONDO_0016096 malignant non-dysgerminomatous germ cell tumor of ovary 'malignant non-dysgerminomatous germ cell tumor of ovary' SubClassOf 'nongerminomatous germ cell tumor' 'malignant non-dysgerminomatous germ cell tumor of ovary' SubClassOf 'nongerminomatous germ cell tumor' http://www.orpha.net/ORDO/Orphanet_206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers 'Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers' SubClassOf 'dilated cardiomyopathy 3B' 'Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers' SubClassOf 'Duchenne and Becker muscular dystrophy' 'Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016899 'Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers' SubClassOf 'Qualitative or quantitative defects of dystrophin' http://www.orpha.net/ORDO/Orphanet_206549 Autosomal recessive limb-girdle muscular dystrophy type 2L 'Autosomal recessive limb-girdle muscular dystrophy type 2L' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2L' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' http://www.orpha.net/ORDO/Orphanet_231512 Hermansky-Pudlak syndrome without pulmonary fibrosis 'Hermansky-Pudlak syndrome without pulmonary fibrosis' SubClassOf 'Hermansky-Pudlak syndrome' 'Hermansky-Pudlak syndrome without pulmonary fibrosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_206554 Autosomal recessive limb-girdle muscular dystrophy type 2M 'Autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf 'muscular dystrophy-dystroglycanopathy, type C' 'Autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf 'Disorder of O-mannosylglycan synthesis' 'Autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf 'myopathy caused by variation in FKTN' 'Autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf 'Disorder of O-mannosylglycan synthesis' 'Autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' http://www.orpha.net/ORDO/Orphanet_90 Argininemia 'Argininemia' SubClassOf 'urea cycle disorder' http://www.orpha.net/ORDO/Orphanet_91 Aromatase deficiency 'Aromatase deficiency' SubClassOf 'pregnancy disorder' 'Aromatase deficiency' SubClassOf '46,XX disorder of sex development induced by fetoplacental androgens excess' 'Aromatase deficiency' SubClassOf 'Non-acquired premature ovarian failure' 'Aromatase deficiency' SubClassOf 'female infertility' 'Aromatase deficiency' SubClassOf 'male infertility' 'Aromatase deficiency' SubClassOf 'Non-acquired premature ovarian failure' 'Aromatase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017962 http://www.orpha.net/ORDO/Orphanet_206559 Autosomal recessive limb-girdle muscular dystrophy type 2N 'Autosomal recessive limb-girdle muscular dystrophy type 2N' SubClassOf 'Disorder of O-mannosylglycan synthesis' 'Autosomal recessive limb-girdle muscular dystrophy type 2N' SubClassOf 'myopathy caused by variation in POMT2' 'Autosomal recessive limb-girdle muscular dystrophy type 2N' SubClassOf 'muscular dystrophy-dystroglycanopathy, type C' 'Autosomal recessive limb-girdle muscular dystrophy type 2N' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2N' SubClassOf 'Qualitative or quantitative defects of protein O-mannosyltransferase 2' 'Autosomal recessive limb-girdle muscular dystrophy type 2N' SubClassOf 'Disorder of O-mannosylglycan synthesis' 'Autosomal recessive limb-girdle muscular dystrophy type 2N' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2N' SubClassOf 'Qualitative or quantitative defects of protein O-mannosyltransferase 2' http://www.orpha.net/ORDO/Orphanet_93 Aspartylglucosaminuria 'Aspartylglucosaminuria' SubClassOf 'Oligosaccharidosis' 'Aspartylglucosaminuria' SubClassOf 'Neurometabolic disease' 'Aspartylglucosaminuria' SubClassOf 'Oligosaccharidosis' 'Aspartylglucosaminuria' SubClassOf 'Neurometabolic disease' http://www.orpha.net/ORDO/Orphanet_95 Friedreich ataxia 'Friedreich ataxia' SubClassOf 'Cerebellar ataxia with peripheral neuropathy' 'Friedreich ataxia' SubClassOf 'Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly' 'Friedreich ataxia' SubClassOf 'Neurometabolic disease' 'Friedreich ataxia' SubClassOf 'Autosomal recessive degenerative and progressive cerebellar ataxia' 'Friedreich ataxia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96 Ataxia with vitamin E deficiency 'Ataxia with vitamin E deficiency' SubClassOf 'vitamin metabolic disorder' 'Ataxia with vitamin E deficiency' SubClassOf 'Disorder of other vitamins and cofactors metabolism and transport' 'Ataxia with vitamin E deficiency' SubClassOf 'Genetic peripheral neuropathy' 'Ataxia with vitamin E deficiency' SubClassOf 'Neurometabolic disease' 'Ataxia with vitamin E deficiency' SubClassOf 'Autosomal recessive metabolic cerebellar ataxia' 'Ataxia with vitamin E deficiency' SubClassOf 'Disorder of other vitamins and cofactors metabolism and transport' 'Ataxia with vitamin E deficiency' SubClassOf 'Neurometabolic disease' 'Ataxia with vitamin E deficiency' SubClassOf 'Autosomal recessive metabolic cerebellar ataxia' http://www.orpha.net/ORDO/Orphanet_97 Familial paroxysmal ataxia 'Familial paroxysmal ataxia' SubClassOf 'Hereditary episodic ataxia' 'Familial paroxysmal ataxia' SubClassOf 'Hereditary episodic ataxia' http://www.orpha.net/ORDO/Orphanet_98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay 'Autosomal recessive spastic ataxia of Charlevoix-Saguenay' SubClassOf 'Autosomal recessive spastic ataxia' 'Autosomal recessive spastic ataxia of Charlevoix-Saguenay' SubClassOf 'Autosomal recessive cerebellar ataxia' 'Autosomal recessive spastic ataxia of Charlevoix-Saguenay' SubClassOf 'Autosomal recessive spastic ataxia' http://www.orpha.net/ORDO/Orphanet_99 Autosomal dominant cerebellar ataxia 'Autosomal dominant cerebellar ataxia' SubClassOf 'hereditary cerebellar ataxia' 'Autosomal dominant cerebellar ataxia' SubClassOf 'autosomal dominant disease' 'Autosomal dominant cerebellar ataxia' SubClassOf 'Genetic neuro-ophthalmological disease' 'Autosomal dominant cerebellar ataxia' SubClassOf 'eye degenerative disorder' 'Autosomal dominant cerebellar ataxia' SubClassOf 'cerebellar degeneration' 'Autosomal dominant cerebellar ataxia' SubClassOf 'disease has major feature' some 'dementia' http://www.orpha.net/ORDO/Orphanet_231500 Hermansky-Pudlak syndrome with pulmonary fibrosis 'Hermansky-Pudlak syndrome with pulmonary fibrosis' SubClassOf 'interstitial lung disease specific to childhood' 'Hermansky-Pudlak syndrome with pulmonary fibrosis' SubClassOf 'Hermansky-Pudlak syndrome' 'Hermansky-Pudlak syndrome with pulmonary fibrosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_206564 Autosomal recessive limb-girdle muscular dystrophy type 2O 'Autosomal recessive limb-girdle muscular dystrophy type 2O' SubClassOf 'Disorder of O-mannosylglycan synthesis' 'Autosomal recessive limb-girdle muscular dystrophy type 2O' SubClassOf 'myopathy caused by variation in POMGNT1' 'Autosomal recessive limb-girdle muscular dystrophy type 2O' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2O' SubClassOf 'muscular dystrophy-dystroglycanopathy, type C' 'Autosomal recessive limb-girdle muscular dystrophy type 2O' SubClassOf 'Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase' 'Autosomal recessive limb-girdle muscular dystrophy type 2O' SubClassOf 'Disorder of O-mannosylglycan synthesis' 'Autosomal recessive limb-girdle muscular dystrophy type 2O' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' http://www.orpha.net/ORDO/Orphanet_363654 X-linked parkinsonism-spasticity syndrome 'X-linked parkinsonism-spasticity syndrome' SubClassOf 'ATP6AP2-related disorder' 'X-linked parkinsonism-spasticity syndrome' SubClassOf 'parkinsonian disorder' 'X-linked parkinsonism-spasticity syndrome' SubClassOf 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' 'X-linked parkinsonism-spasticity syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79305 Progressive familial intrahepatic cholestasis type 3 'Progressive familial intrahepatic cholestasis type 3' SubClassOf 'Progressive familial intrahepatic cholestasis' 'Progressive familial intrahepatic cholestasis type 3' SubClassOf 'Progressive familial intrahepatic cholestasis' http://www.orpha.net/ORDO/Orphanet_79304 Progressive familial intrahepatic cholestasis type 2 'Progressive familial intrahepatic cholestasis type 2' SubClassOf 'Progressive familial intrahepatic cholestasis' 'Progressive familial intrahepatic cholestasis type 2' SubClassOf 'Benign recurrent intrahepatic cholestasis type 2' 'Progressive familial intrahepatic cholestasis type 2' SubClassOf 'Progressive familial intrahepatic cholestasis' http://www.orpha.net/ORDO/Orphanet_79306 Progressive familial intrahepatic cholestasis type 1 'Progressive familial intrahepatic cholestasis type 1' SubClassOf 'Progressive familial intrahepatic cholestasis' 'Progressive familial intrahepatic cholestasis type 1' SubClassOf 'Progressive familial intrahepatic cholestasis' http://www.orpha.net/ORDO/Orphanet_79301 Congenital bile acid synthesis defect type 1 'Congenital bile acid synthesis defect type 1' SubClassOf 'Congenital bile acid synthesis defect' 'Congenital bile acid synthesis defect type 1' SubClassOf 'Congenital bile acid synthesis defect' http://www.orpha.net/ORDO/Orphanet_79303 Congenital bile acid synthesis defect type 2 'Congenital bile acid synthesis defect type 2' SubClassOf 'Congenital bile acid synthesis defect' 'Congenital bile acid synthesis defect type 2' SubClassOf 'has modifier' some 'congenital' 'Congenital bile acid synthesis defect type 2' SubClassOf 'Congenital bile acid synthesis defect' http://www.orpha.net/ORDO/Orphanet_79302 Congenital bile acid synthesis defect type 3 'Congenital bile acid synthesis defect type 3' SubClassOf 'has modifier' some 'congenital' 'Congenital bile acid synthesis defect type 3' SubClassOf 'Congenital bile acid synthesis defect' 'Congenital bile acid synthesis defect type 3' SubClassOf 'Congenital bile acid synthesis defect' http://www.orpha.net/ORDO/Orphanet_363649 Mandibular hypoplasia-deafness-progeroid syndrome 'Mandibular hypoplasia-deafness-progeroid syndrome' SubClassOf 'progeroid syndrome' 'Mandibular hypoplasia-deafness-progeroid syndrome' SubClassOf 'Genetic progeroid syndrome' 'Mandibular hypoplasia-deafness-progeroid syndrome' SubClassOf 'Syndromic genetic deafness' 'Mandibular hypoplasia-deafness-progeroid syndrome' SubClassOf 'progeroid syndrome' 'Mandibular hypoplasia-deafness-progeroid syndrome' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_363665 Acroosteolysis-keloid-like lesions-premature aging syndrome 'Acroosteolysis-keloid-like lesions-premature aging syndrome' SubClassOf 'Genetic progeroid syndrome' 'Acroosteolysis-keloid-like lesions-premature aging syndrome' SubClassOf 'progeroid syndrome' 'Acroosteolysis-keloid-like lesions-premature aging syndrome' SubClassOf 'progeroid syndrome' http://www.orpha.net/ORDO/Orphanet_363659 20q11.2 microduplication syndrome '20q11.2 microduplication syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '20q11.2 microduplication syndrome' SubClassOf 'Partial trisomy of the long arm of chromosome 20' '20q11.2 microduplication syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' '20q11.2 microduplication syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_363677 Childhood-onset autosomal recessive myopathy with external ophthalmoplegia 'Childhood-onset autosomal recessive myopathy with external ophthalmoplegia' SubClassOf 'Inclusion myopathy' 'Childhood-onset autosomal recessive myopathy with external ophthalmoplegia' SubClassOf 'myopathy, proximal, and ophthalmoplegia' 'Childhood-onset autosomal recessive myopathy with external ophthalmoplegia' SubClassOf 'Inclusion myopathy' http://www.orpha.net/ORDO/Orphanet_363686 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 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome' SubClassOf 'intellectual disability, autosomal dominant' 'Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome' SubClassOf 'congenital nervous system disorder' 'Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_363680 2p13.2 microdeletion syndrome '2p13.2 microdeletion syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' '2p13.2 microdeletion syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '2p13.2 microdeletion syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 2' '2p13.2 microdeletion syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_363694 Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome 'Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome' SubClassOf 'Genetic hypertension' 'Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome' SubClassOf 'Genetic renal tubular disease' 'Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome' SubClassOf 'pulmonary hypertension' 'Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome' SubClassOf 'Genetic renal tubular disease' http://www.orpha.net/ORDO/Orphanet_79345 Brachytelephalangic chondrodysplasia punctata 'Brachytelephalangic chondrodysplasia punctata' SubClassOf 'Other metabolic disease' 'Brachytelephalangic chondrodysplasia punctata' SubClassOf 'Non-rhizomelic chondrodysplasia punctata' 'Brachytelephalangic chondrodysplasia punctata' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79344 Autosomal dominant chondrodysplasia punctata 'Autosomal dominant chondrodysplasia punctata' SubClassOf 'syndromic disease' 'Autosomal dominant chondrodysplasia punctata' SubClassOf 'Non-rhizomelic chondrodysplasia punctata' 'Autosomal dominant chondrodysplasia punctata' SubClassOf 'autosomal dominant disease' 'Autosomal dominant chondrodysplasia punctata' SubClassOf 'Non-rhizomelic chondrodysplasia punctata' http://www.orpha.net/ORDO/Orphanet_79347 Chondrodysplasia punctata, Toriello type 'Chondrodysplasia punctata, Toriello type' SubClassOf 'Non-rhizomelic chondrodysplasia punctata' 'Chondrodysplasia punctata, Toriello type' SubClassOf 'Non-rhizomelic chondrodysplasia punctata' http://www.orpha.net/ORDO/Orphanet_79346 Chondrodysplasia punctata, tibial-metacarpal type 'Chondrodysplasia punctata, tibial-metacarpal type' SubClassOf 'Autosomal dominant chondrodysplasia punctata' 'Chondrodysplasia punctata, tibial-metacarpal type' SubClassOf 'Non-rhizomelic chondrodysplasia punctata' http://www.orpha.net/ORDO/Orphanet_79333 COG7-CDG 'COG7-CDG' SubClassOf 'Congenital disorder of glycosylation with cardiac malformation as a major feature' 'COG7-CDG' SubClassOf 'Defect in conserved oligomeric Golgi complex' 'COG7-CDG' SubClassOf 'congenital nervous system disorder' 'COG7-CDG' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'COG7-CDG' SubClassOf 'genetic skin disease' 'COG7-CDG' SubClassOf 'heart disease' 'COG7-CDG' SubClassOf 'congenital disorder of glycosylation type II' 'COG7-CDG' SubClassOf 'Congenital disorder of glycosylation with skin involvement' 'COG7-CDG' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79330 GCS1-CDG 'GCS1-CDG' SubClassOf 'Disorder of protein N-glycosylation' 'GCS1-CDG' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'GCS1-CDG' SubClassOf 'Congenital disorder of glycosylation with hepatic involvement' 'GCS1-CDG' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79332 B4GALT1-CDG 'B4GALT1-CDG' SubClassOf 'Genetic syndrome with a Dandy-Walker malformation as major feature' 'B4GALT1-CDG' SubClassOf 'central nervous system malformation' 'B4GALT1-CDG' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'B4GALT1-CDG' SubClassOf 'congenital nervous system disorder' 'B4GALT1-CDG' SubClassOf 'Congenital disorder of glycosylation with hepatic involvement' 'B4GALT1-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'B4GALT1-CDG' SubClassOf 'Congenital disorder of glycosylation with developmental anomaly' 'B4GALT1-CDG' SubClassOf 'Disorder of multiple glycosylation' 'B4GALT1-CDG' SubClassOf 'congenital disorder of glycosylation type II' 'B4GALT1-CDG' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79319 MPI-CDG 'MPI-CDG' SubClassOf 'Disorder of protein N-glycosylation' 'MPI-CDG' SubClassOf 'congenital disorder of glycosylation type I' 'MPI-CDG' SubClassOf 'Syndromic lymphedema' 'MPI-CDG' SubClassOf 'Congenital disorder of glycosylation with intestinal involvement' 'MPI-CDG' SubClassOf 'Milroy disease' 'MPI-CDG' SubClassOf 'Congenital disorder of glycosylation with hepatic involvement' 'MPI-CDG' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79327 ALG1-CDG 'ALG1-CDG' SubClassOf 'congenital disorder of glycosylation type I' 'ALG1-CDG' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'ALG1-CDG' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'ALG1-CDG' SubClassOf 'Disorder of protein N-glycosylation' 'ALG1-CDG' SubClassOf 'congenital nervous system disorder' 'ALG1-CDG' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79326 ALG2-CDG 'ALG2-CDG' SubClassOf 'congenital disorder of glycosylation type I' 'ALG2-CDG' SubClassOf 'Congenital disorder of glycosylation with hepatic involvement' 'ALG2-CDG' SubClassOf 'Disorder of protein N-glycosylation' 'ALG2-CDG' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'ALG2-CDG' SubClassOf 'congenital nervous system disorder' 'ALG2-CDG' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'ALG2-CDG' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79329 MGAT2-CDG 'MGAT2-CDG' SubClassOf 'congenital disorder of glycosylation type II' 'MGAT2-CDG' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'MGAT2-CDG' SubClassOf 'Disorder of protein N-glycosylation' 'MGAT2-CDG' SubClassOf 'Congenital disorder of glycosylation with cardiac malformation as a major feature' 'MGAT2-CDG' SubClassOf 'congenital nervous system disorder' 'MGAT2-CDG' SubClassOf 'heart disease' 'MGAT2-CDG' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79328 ALG9-CDG 'ALG9-CDG' SubClassOf 'Disorder of protein N-glycosylation' 'ALG9-CDG' SubClassOf 'Congenital disorder of glycosylation with hepatic involvement' 'ALG9-CDG' SubClassOf 'congenital nervous system disorder' 'ALG9-CDG' SubClassOf 'congenital disorder of glycosylation type I' 'ALG9-CDG' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'ALG9-CDG' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79323 MPDU1-CDG 'MPDU1-CDG' SubClassOf 'congenital nervous system disorder' 'MPDU1-CDG' SubClassOf 'Congenital disorder of glycosylation with skin involvement' 'MPDU1-CDG' SubClassOf 'Disorder of multiple glycosylation' 'MPDU1-CDG' SubClassOf 'congenital disorder of glycosylation type I' 'MPDU1-CDG' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'MPDU1-CDG' SubClassOf 'genetic skin disease' 'MPDU1-CDG' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'MPDU1-CDG' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79322 DPM1-CDG 'DPM1-CDG' SubClassOf 'congenital nervous system disorder' 'DPM1-CDG' SubClassOf 'Disorder of multiple glycosylation' 'DPM1-CDG' SubClassOf 'congenital disorder of glycosylation type I' 'DPM1-CDG' SubClassOf 'Disorder of multiple glycosylation' http://www.orpha.net/ORDO/Orphanet_79325 ALG8-CDG 'ALG8-CDG' SubClassOf 'congenital nervous system disorder' 'ALG8-CDG' SubClassOf 'congenital disorder of glycosylation type I' 'ALG8-CDG' SubClassOf 'Congenital disorder of glycosylation with intestinal involvement' 'ALG8-CDG' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'ALG8-CDG' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'ALG8-CDG' SubClassOf 'Disorder of protein N-glycosylation' 'ALG8-CDG' SubClassOf 'Congenital disorder of glycosylation with hepatic involvement' 'ALG8-CDG' SubClassOf 'Congenital disorder of glycosylation with nephropathy as a major feature' 'ALG8-CDG' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79324 ALG12-CDG 'ALG12-CDG' SubClassOf 'congenital nervous system disorder' 'ALG12-CDG' SubClassOf 'Disorder of protein N-glycosylation' 'ALG12-CDG' SubClassOf 'congenital disorder of glycosylation type I' 'ALG12-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'ALG12-CDG' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79321 ALG3-CDG 'ALG3-CDG' SubClassOf 'Disorder of protein N-glycosylation' 'ALG3-CDG' SubClassOf 'congenital disorder of glycosylation type I' 'ALG3-CDG' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'ALG3-CDG' SubClassOf 'congenital nervous system disorder' 'ALG3-CDG' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'ALG3-CDG' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79320 ALG6-CDG 'ALG6-CDG' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'ALG6-CDG' SubClassOf 'Congenital disorder of glycosylation with intestinal involvement' 'ALG6-CDG' SubClassOf 'Disorder of protein N-glycosylation' 'ALG6-CDG' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002087 fibrosarcoma 'fibrosarcoma' SubClassOf 'soft tissue sarcoma' 'fibrosarcoma' SubClassOf 'soft tissue sarcoma' http://www.orpha.net/ORDO/Orphanet_79316 Phosphoenolpyruvate carboxykinase 1 deficiency 'Phosphoenolpyruvate carboxykinase 1 deficiency' SubClassOf 'Phosphoenolpyruvate carboxykinase deficiency' 'Phosphoenolpyruvate carboxykinase 1 deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79315 D-2-hydroxyglutaric aciduria 'D-2-hydroxyglutaric aciduria' SubClassOf '2-hydroxyglutaric aciduria' 'D-2-hydroxyglutaric aciduria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79318 PMM2-CDG 'PMM2-CDG' SubClassOf 'congenital disorder of glycosylation type I' 'PMM2-CDG' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'PMM2-CDG' SubClassOf 'congenital nervous system disorder' 'PMM2-CDG' SubClassOf 'Disorder of protein N-glycosylation' 'PMM2-CDG' SubClassOf 'Congenital disorder of glycosylation with skin involvement' 'PMM2-CDG' SubClassOf 'Congenital disorder of glycosylation with hepatic involvement' 'PMM2-CDG' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'PMM2-CDG' SubClassOf 'genetic skin disease' 'PMM2-CDG' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79317 Phosphoenolpyruvate carboxykinase 2 deficiency 'Phosphoenolpyruvate carboxykinase 2 deficiency' SubClassOf 'Phosphoenolpyruvate carboxykinase deficiency' 'Phosphoenolpyruvate carboxykinase 2 deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- 'Vitamin B12-unresponsive methylmalonic acidemia type mut-' SubClassOf 'Vitamin B12-unresponsive methylmalonic acidemia' 'Vitamin B12-unresponsive methylmalonic acidemia type mut-' SubClassOf 'methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency' 'Vitamin B12-unresponsive methylmalonic acidemia type mut-' SubClassOf 'methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency' http://www.orpha.net/ORDO/Orphanet_79311 Vitamin B12-responsive methylmalonic acidemia type cblB 'Vitamin B12-responsive methylmalonic acidemia type cblB' SubClassOf 'Vitamin B12-responsive methylmalonic acidemia' 'Vitamin B12-responsive methylmalonic acidemia type cblB' SubClassOf 'Vitamin B12-responsive methylmalonic acidemia' http://www.orpha.net/ORDO/Orphanet_79314 L-2-hydroxyglutaric aciduria 'L-2-hydroxyglutaric aciduria' SubClassOf '2-hydroxyglutaric aciduria' 'L-2-hydroxyglutaric aciduria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79310 Vitamin B12-responsive methylmalonic acidemia type cblA 'Vitamin B12-responsive methylmalonic acidemia type cblA' SubClassOf 'Vitamin B12-responsive methylmalonic acidemia' 'Vitamin B12-responsive methylmalonic acidemia type cblA' SubClassOf 'Vitamin B12-responsive methylmalonic acidemia' http://www.orpha.net/ORDO/Orphanet_289266 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' 'Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation' SubClassOf 'Childhood-onset epilepsy syndrome' 'Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation' SubClassOf 'Childhood-onset epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0006507 hereditary hemochromatosis 'hereditary hemochromatosis' SubClassOf 'Disorder of iron metabolism and transport' 'hereditary hemochromatosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017763 http://purl.obolibrary.org/obo/MONDO_0018502 hereditary gastric cancer 'hereditary gastric cancer' SubClassOf 'Genetic digestive tract tumor' 'hereditary gastric cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017128 http://purl.obolibrary.org/obo/MONDO_0018513 squamous cell carcinoma of colon 'squamous cell carcinoma of colon' SubClassOf 'colon carcinoma' 'squamous cell carcinoma of colon' SubClassOf 'colon carcinoma' http://purl.obolibrary.org/obo/MONDO_0018529 qualitative or quantitative defects of Torsin-1A-interacting protein 1 'qualitative or quantitative defects of Torsin-1A-interacting protein 1' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'qualitative or quantitative defects of Torsin-1A-interacting protein 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016139 http://www.ebi.ac.uk/efo/EFO_1000867 chromophobe adenoma 'chromophobe adenoma' SubClassOf 'Pituitary Gland Adenoma' 'chromophobe adenoma' SubClassOf 'Pituitary Gland Adenoma' http://www.ebi.ac.uk/efo/EFO_1000865 choledocholithiasis 'choledocholithiasis' SubClassOf 'Genetic biliary tract disease' 'choledocholithiasis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015509 http://www.orpha.net/ORDO/Orphanet_314376 Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency 'Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency' SubClassOf 'ileus' 'Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency' SubClassOf 'intestinal motility disease' 'Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_314373 Chronic diarrhea due to guanylate cyclase 2C overactivity 'Chronic diarrhea due to guanylate cyclase 2C overactivity' SubClassOf 'congenital diarrhea' 'Chronic diarrhea due to guanylate cyclase 2C overactivity' SubClassOf 'has modifier' some 'rare' 'Chronic diarrhea due to guanylate cyclase 2C overactivity' SubClassOf 'intestinal motility disease' http://purl.obolibrary.org/obo/MONDO_0018538 inherited digestive cancer-predisposing syndrome 'inherited digestive cancer-predisposing syndrome' EquivalentTo 'Inherited cancer-predisposing syndrome' and ('disease has feature' some 'digestive system cancer') 'inherited digestive cancer-predisposing syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' 'inherited digestive cancer-predisposing syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015356 'inherited digestive cancer-predisposing syndrome' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0015356 and ('disease has feature' some 'digestive system cancer') http://www.ebi.ac.uk/efo/EFO_1000877 complex partial epilepsy 'complex partial epilepsy' SubClassOf 'partial epilepsy' 'complex partial epilepsy' SubClassOf 'partial epilepsy' http://purl.obolibrary.org/obo/MONDO_0018534 squamous cell carcinoma of liver and intrahepatic biliary tract 'squamous cell carcinoma of liver and intrahepatic biliary tract' SubClassOf 'carcinoma of liver and intrahepatic biliary tract' 'squamous cell carcinoma of liver and intrahepatic biliary tract' SubClassOf 'carcinoma of liver and intrahepatic biliary tract' http://purl.obolibrary.org/obo/MONDO_0018533 undifferentiated carcinoma of liver and intrahepatic biliary tract 'undifferentiated carcinoma of liver and intrahepatic biliary tract' SubClassOf 'carcinoma of liver and intrahepatic biliary tract' 'undifferentiated carcinoma of liver and intrahepatic biliary tract' SubClassOf 'carcinoma of liver and intrahepatic biliary tract' http://purl.obolibrary.org/obo/MONDO_0018532 adenocarcinoma of liver and intrahepatic biliary tract 'adenocarcinoma of liver and intrahepatic biliary tract' SubClassOf 'carcinoma of liver and intrahepatic biliary tract' 'adenocarcinoma of liver and intrahepatic biliary tract' SubClassOf 'carcinoma of liver and intrahepatic biliary tract' http://www.ebi.ac.uk/efo/EFO_1000885 cutaneous fibrous histiocytoma 'cutaneous fibrous histiocytoma' SubClassOf 'benign fibrous histiocytoma' 'cutaneous fibrous histiocytoma' SubClassOf 'benign fibrous histiocytoma' http://www.ebi.ac.uk/efo/EFO_1000886 cutaneous mastocytosis 'cutaneous mastocytosis' SubClassOf 'Mastocytosis' 'cutaneous mastocytosis' SubClassOf 'dermis tumor' 'cutaneous mastocytosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015950 'cutaneous mastocytosis' SubClassOf 'Mastocytosis' 'cutaneous mastocytosis' SubClassOf 'urticaria' http://www.ebi.ac.uk/efo/EFO_1000890 Dandy-Walker syndrome 'Dandy-Walker syndrome' SubClassOf 'Rare genetic neurological disorder' 'Dandy-Walker syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://purl.obolibrary.org/obo/MONDO_0018559 fetal lower urinary tract obstruction 'fetal lower urinary tract obstruction' SubClassOf 'Genetic urogenital tract malformation' 'fetal lower urinary tract obstruction' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019356 http://www.ebi.ac.uk/efo/EFO_1000897 diabetic ketoacidosis 'diabetic ketoacidosis' SubClassOf 'Inborn errors of metabolism' 'diabetic ketoacidosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019052 http://www.ebi.ac.uk/efo/EFO_1000898 diaphragmatic eventration 'diaphragmatic eventration' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0018550 spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder 'spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder' SubClassOf 'Hereditary motor and sensory neuropathy' 'spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015358 'spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015089 http://purl.obolibrary.org/obo/MONDO_0018563 adactyly of foot 'adactyly of foot' SubClassOf 'Terminal limb defects' 'adactyly of foot' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017421 http://purl.obolibrary.org/obo/MONDO_0018565 congenital urachal anomaly 'congenital urachal anomaly' SubClassOf 'Genetic non-syndromic renal or urinary tract malformation' 'congenital urachal anomaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019720 http://purl.obolibrary.org/obo/MONDO_0018562 genetic otorhinolaryngological malformation 'genetic otorhinolaryngological malformation' SubClassOf 'Genetic head and neck malformation' 'genetic otorhinolaryngological malformation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015961 http://purl.obolibrary.org/obo/MONDO_0018580 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 'PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome' SubClassOf 'Rare genetic neurological disorder' 'PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015159 http://www.orpha.net/ORDO/Orphanet_228277 Familial anetoderma 'Familial anetoderma' SubClassOf 'Genetic dermis elastic tissue disorder' 'Familial anetoderma' SubClassOf 'Genetic dermis elastic tissue disorder' http://purl.obolibrary.org/obo/MONDO_0006596 photoallergic dermatitis 'photoallergic dermatitis' SubClassOf 'allergic contact dermatitis' 'photoallergic dermatitis' SubClassOf 'allergic contact dermatitis' 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 'Non-acquired premature ovarian failure' 'microcephalic primordial dwarfism-insulin resistance syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019052 'microcephalic primordial dwarfism-insulin resistance syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019852 http://www.orpha.net/ORDO/Orphanet_169464 Primary CD59 deficiency 'Primary CD59 deficiency' SubClassOf 'familial hemolytic anemia' 'Primary CD59 deficiency' SubClassOf 'Genetic peripheral neuropathy' 'Primary CD59 deficiency' SubClassOf 'Genetic peripheral neuropathy' http://www.orpha.net/ORDO/Orphanet_169467 Recurrent Neisseria infections due to factor D deficiency 'Recurrent Neisseria infections due to factor D deficiency' SubClassOf 'complement deficiency' http://purl.obolibrary.org/obo/MONDO_0043579 enteritis 'enteritis' SubClassOf 'small intestine disorder' 'enteritis' SubClassOf 'small intestine disorder' http://www.ebi.ac.uk/efo/EFO_0004991 Myasthenia gravis 'Myasthenia gravis' SubClassOf 'Genetic peripheral neuropathy' http://www.ebi.ac.uk/efo/EFO_0004992 Otitis media 'Otitis media' SubClassOf 'head and neck disorder' http://www.orpha.net/ORDO/Orphanet_363396 High myopia-sensorineural deafness syndrome 'High myopia-sensorineural deafness syndrome' SubClassOf 'Syndromic genetic deafness' 'High myopia-sensorineural deafness syndrome' SubClassOf 'Syndromic myopia' 'High myopia-sensorineural deafness syndrome' SubClassOf 'Syndromic genetic deafness' 'High myopia-sensorineural deafness syndrome' SubClassOf 'Syndromic myopia' http://www.ebi.ac.uk/efo/EFO_1000805 angioid streaks 'angioid streaks' SubClassOf 'Rare genetic neurological disorder' 'angioid streaks' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.ebi.ac.uk/efo/EFO_1000800 alcohol withdrawal delirium 'alcohol withdrawal delirium' SubClassOf 'alcohol withdrawal' 'alcohol withdrawal delirium' SubClassOf 'alcohol withdrawal' http://www.ebi.ac.uk/efo/EFO_1000808 anterior compartment syndrome 'anterior compartment syndrome' SubClassOf 'compartment syndrome' 'anterior compartment syndrome' SubClassOf 'compartment syndrome' http://www.ebi.ac.uk/efo/EFO_1000809 anterior ischemic optic neuropathy 'anterior ischemic optic neuropathy' SubClassOf 'optic nerve disorder' 'anterior ischemic optic neuropathy' SubClassOf 'optic nerve disorder' http://www.ebi.ac.uk/efo/EFO_1000813 anthracosilicosis 'anthracosilicosis' SubClassOf 'pneumoconiosis' 'anthracosilicosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015926 http://www.ebi.ac.uk/efo/EFO_1000814 anthracosis 'anthracosis' SubClassOf 'pneumoconiosis' 'anthracosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015926 http://www.ebi.ac.uk/efo/EFO_1000817 apparent mineralocorticoid excess syndrome 'apparent mineralocorticoid excess syndrome' SubClassOf 'Rare syndromic dyslipidemia' 'apparent mineralocorticoid excess syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015905 http://www.ebi.ac.uk/efo/EFO_1000825 atrial heart septal defect 'atrial heart septal defect' SubClassOf 'Genetic cardiac anomaly' 'atrial heart septal defect' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017131 http://www.orpha.net/ORDO/Orphanet_55654 Hypotrichosis simplex 'Hypotrichosis simplex' SubClassOf 'genetic alopecia' 'Hypotrichosis simplex' SubClassOf 'Alopecia' 'Hypotrichosis simplex' SubClassOf 'Alopecia' http://www.orpha.net/ORDO/Orphanet_399380 Osteonecrosis of genetic origin 'Osteonecrosis of genetic origin' EquivalentTo 'osteonecrosis' and ('has modifier' some 'inherited') 'Osteonecrosis of genetic origin' SubClassOf 'osteonecrosis' http://www.ebi.ac.uk/efo/EFO_1000834 basophil adenoma 'basophil adenoma' SubClassOf 'Pituitary Gland Adenoma' 'basophil adenoma' SubClassOf 'Pituitary Gland Adenoma' http://www.orpha.net/ORDO/Orphanet_399388 Avascular necrosis of genetic origin 'Avascular necrosis of genetic origin' SubClassOf 'Osteonecrosis of genetic origin' 'Avascular necrosis of genetic origin' SubClassOf 'avascular necrosis' 'Avascular necrosis of genetic origin' EquivalentTo 'avascular necrosis' and ('has modifier' some 'inherited') 'Avascular necrosis of genetic origin' SubClassOf 'Osteonecrosis of genetic origin' http://www.orpha.net/ORDO/Orphanet_314389 Xq12-q13.3 duplication syndrome 'Xq12-q13.3 duplication syndrome' SubClassOf 'Partial duplication of the long arm of chromosome X' 'Xq12-q13.3 duplication syndrome' SubClassOf 'Rare disease with autism' 'Xq12-q13.3 duplication syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000849 bronchial neoplasm 'bronchial neoplasm' SubClassOf 'neoplasm of thorax' http://www.orpha.net/ORDO/Orphanet_314381 Hereditary sensory and autonomic neuropathy type 6 'Hereditary sensory and autonomic neuropathy type 6' SubClassOf 'Autosomal recessive hereditary sensory and autonomic neuropathy' 'Hereditary sensory and autonomic neuropathy type 6' SubClassOf 'Autosomal recessive hereditary sensory and autonomic neuropathy' http://www.orpha.net/ORDO/Orphanet_314399 Autosomal dominant aplasia and myelodysplasia 'Autosomal dominant aplasia and myelodysplasia' SubClassOf 'inherited aplastic anemia' 'Autosomal dominant aplasia and myelodysplasia' SubClassOf 'bone marrow failure syndrome' http://www.orpha.net/ORDO/Orphanet_228215 Genetic dermis elastic tissue disorder 'Genetic dermis elastic tissue disorder' SubClassOf 'dermis disorder' 'Genetic dermis elastic tissue disorder' SubClassOf 'genetic skin disease' 'Genetic dermis elastic tissue disorder' SubClassOf 'Genetic dermis disorder' 'Genetic dermis elastic tissue disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019276 http://www.ebi.ac.uk/efo/EFO_1000851 byssinosis 'byssinosis' SubClassOf 'pneumoconiosis' 'byssinosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015926 http://www.ebi.ac.uk/efo/EFO_1000852 carcinoid syndrome 'carcinoid syndrome' SubClassOf 'syndromic disease' 'carcinoid syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_1000850 burning mouth syndrome 'burning mouth syndrome' SubClassOf 'syndromic disease' 'burning mouth syndrome' SubClassOf 'syndromic disease' 'burning mouth syndrome' SubClassOf 'head and neck disorder' http://www.ebi.ac.uk/efo/EFO_1000857 central pontine myelinolysis 'central pontine myelinolysis' SubClassOf 'demyelinating disease' 'central pontine myelinolysis' SubClassOf 'demyelinating disease' http://www.ebi.ac.uk/efo/EFO_1000855 central core myopathy 'central core myopathy' SubClassOf 'RYR1-related myopathy' 'central core myopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015765 'central core myopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018943 'central core myopathy' SubClassOf 'TPM2-related myopathy' http://www.ebi.ac.uk/efo/EFO_1000854 causalgia 'causalgia' SubClassOf 'syndromic disease' 'causalgia' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_314394 Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome 'Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome' SubClassOf 'Slender bone dysplasia' 'Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome' SubClassOf 'Slender bone dysplasia' http://www.orpha.net/ORDO/Orphanet_79665 Gardner syndrome 'Gardner syndrome' SubClassOf 'eye neoplasm' 'Gardner syndrome' SubClassOf 'Familial adenomatous polyposis' 'Gardner syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_363300 Genetic intractable diarrhea of infancy 'Genetic intractable diarrhea of infancy' SubClassOf 'has modifier' some 'rare' 'Genetic intractable diarrhea of infancy' SubClassOf 'intestinal disease' http://www.orpha.net/ORDO/Orphanet_79651 Mild hyperphenylalaninemia 'Mild hyperphenylalaninemia' SubClassOf 'Phenylketonuria' 'Mild hyperphenylalaninemia' SubClassOf 'Phenylketonuria' http://www.orpha.net/ORDO/Orphanet_363314 Genetic intestinal polyposis 'Genetic intestinal polyposis' SubClassOf 'has modifier' some 'rare' 'Genetic intestinal polyposis' SubClassOf 'polyposis' 'Genetic intestinal polyposis' SubClassOf 'intestinal disease' http://www.orpha.net/ORDO/Orphanet_79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency 'Autosomal recessive hyperinsulinism due to Kir6.2 deficiency' SubClassOf 'Diazoxide-resistant diffuse hyperinsulinism' 'Autosomal recessive hyperinsulinism due to Kir6.2 deficiency' SubClassOf 'hyperinsulinemic hypoglycemia, familial, 2' 'Autosomal recessive hyperinsulinism due to Kir6.2 deficiency' SubClassOf 'Diazoxide-resistant diffuse hyperinsulinism' http://www.orpha.net/ORDO/Orphanet_79643 Autosomal recessive hyperinsulinism due to SUR1 deficiency 'Autosomal recessive hyperinsulinism due to SUR1 deficiency' SubClassOf 'hyperinsulinemic hypoglycemia, familial, 1' 'Autosomal recessive hyperinsulinism due to SUR1 deficiency' SubClassOf 'Diazoxide-resistant diffuse hyperinsulinism' 'Autosomal recessive hyperinsulinism due to SUR1 deficiency' SubClassOf 'Diazoxide-resistant diffuse hyperinsulinism' http://www.orpha.net/ORDO/Orphanet_363306 Genetic intestinal disease due to fat malabsorption 'Genetic intestinal disease due to fat malabsorption' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_90001 X-linked cone dysfunction syndrome with myopia 'X-linked cone dysfunction syndrome with myopia' SubClassOf 'Syndromic myopia' 'X-linked cone dysfunction syndrome with myopia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_289176 Autosomal recessive hypophosphatemic rickets 'Autosomal recessive hypophosphatemic rickets' SubClassOf 'autosomal recessive disease' 'Autosomal recessive hypophosphatemic rickets' SubClassOf 'hereditary hypophosphatemic rickets' http://www.orpha.net/ORDO/Orphanet_314404 Autosomal dominant cerebellar ataxia, deafness and narcolepsy 'Autosomal dominant cerebellar ataxia, deafness and narcolepsy' SubClassOf 'Syndromic genetic deafness' 'Autosomal dominant cerebellar ataxia, deafness and narcolepsy' SubClassOf 'sleep-wake disorder' 'Autosomal dominant cerebellar ataxia, deafness and narcolepsy' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Autosomal dominant cerebellar ataxia, deafness and narcolepsy' SubClassOf 'Syndromic genetic deafness' 'Autosomal dominant cerebellar ataxia, deafness and narcolepsy' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' http://www.orpha.net/ORDO/Orphanet_79499 Autosomal dominant deafness-onychodystrophy syndrome 'Autosomal dominant deafness-onychodystrophy syndrome' SubClassOf 'intellectual disability, autosomal dominant' 'Autosomal dominant deafness-onychodystrophy syndrome' SubClassOf 'Deafness-onychodystrophy syndrome' 'Autosomal dominant deafness-onychodystrophy syndrome' SubClassOf 'Deafness-onychodystrophy syndrome' http://www.orpha.net/ORDO/Orphanet_228190 Patent ductus arteriosus - bicuspid aortic valve - hand anomalies 'Patent ductus arteriosus - bicuspid aortic valve - hand anomalies' SubClassOf 'Heart-hand syndrome' 'Patent ductus arteriosus - bicuspid aortic valve - hand anomalies' SubClassOf 'heart disease' 'Patent ductus arteriosus - bicuspid aortic valve - hand anomalies' SubClassOf 'Heart-hand syndrome' http://www.orpha.net/ORDO/Orphanet_79495 X-linked congenital generalized hypertrichosis 'X-linked congenital generalized hypertrichosis' SubClassOf 'Hypertrichosis lanuginosa congenita' 'X-linked congenital generalized hypertrichosis' SubClassOf 'has modifier' some 'congenital' 'X-linked congenital generalized hypertrichosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79493 Brooke-Spiegler syndrome 'Brooke-Spiegler syndrome' SubClassOf 'autosomal dominant disease' 'Brooke-Spiegler syndrome' SubClassOf 'Palpebral piliary tumor' 'Brooke-Spiegler syndrome' SubClassOf 'Genetic skin tumor' 'Brooke-Spiegler syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79492 Pili gemini 'Pili gemini' SubClassOf 'Isolated hair shaft abnormality' 'Pili gemini' SubClassOf 'Isolated hair shaft abnormality' http://www.orpha.net/ORDO/Orphanet_79484 Phakomatosis cesiomarmorata 'Phakomatosis cesiomarmorata' SubClassOf 'Phakomatosis pigmentovascularis' 'Phakomatosis cesiomarmorata' SubClassOf 'Phakomatosis pigmentovascularis' http://www.orpha.net/ORDO/Orphanet_79483 Phakomatosis cesioflammea 'Phakomatosis cesioflammea' SubClassOf 'Phakomatosis pigmentovascularis' 'Phakomatosis cesioflammea' SubClassOf 'Phakomatosis pigmentovascularis' http://www.orpha.net/ORDO/Orphanet_79485 Phakomatosis spilorosea 'Phakomatosis spilorosea' SubClassOf 'Phakomatosis pigmentovascularis' 'Phakomatosis spilorosea' SubClassOf 'Phakomatosis pigmentovascularis' http://www.orpha.net/ORDO/Orphanet_289157 Hypocalcemic vitamin D-dependent rickets 'Hypocalcemic vitamin D-dependent rickets' SubClassOf 'vitamin D-dependent rickets' 'Hypocalcemic vitamin D-dependent rickets' SubClassOf 'Hypocalcemic rickets' 'Hypocalcemic vitamin D-dependent rickets' SubClassOf 'Hypocalcemic rickets' http://www.orpha.net/ORDO/Orphanet_79477 Griscelli disease type 2 'Griscelli disease type 2' SubClassOf 'Griscelli disease' 'Griscelli disease type 2' SubClassOf 'Constitutional neutropenia' 'Griscelli disease type 2' SubClassOf 'Griscelli disease' http://www.orpha.net/ORDO/Orphanet_79476 Griscelli disease type 1 'Griscelli disease type 1' SubClassOf 'brain inflammatory disease' 'Griscelli disease type 1' SubClassOf 'Griscelli disease' 'Griscelli disease type 1' SubClassOf 'Cerebral organic aciduria' 'Griscelli disease type 1' SubClassOf 'Griscelli disease' http://www.orpha.net/ORDO/Orphanet_79478 Griscelli disease type 3 'Griscelli disease type 3' SubClassOf 'Griscelli disease' 'Griscelli disease type 3' SubClassOf 'Griscelli disease' http://www.orpha.net/ORDO/Orphanet_79473 Porphyria variegata 'Porphyria variegata' SubClassOf 'Acute hepatic porphyria' 'Porphyria variegata' SubClassOf 'inherited porphyria' 'Porphyria variegata' SubClassOf 'Acute hepatic porphyria' http://www.orpha.net/ORDO/Orphanet_79474 Atypical Werner syndrome 'Atypical Werner syndrome' SubClassOf 'laminopathy' 'Atypical Werner syndrome' SubClassOf 'Genetic progeroid syndrome' 'Atypical Werner syndrome' SubClassOf 'progeroid syndrome' 'Atypical Werner syndrome' SubClassOf 'progeroid syndrome' http://www.orpha.net/ORDO/Orphanet_280763 Severe intellectual disability and progressive spastic paraplegia 'Severe intellectual disability and progressive spastic paraplegia' EquivalentTo 'hereditary spastic paraplegia 50' or 'hereditary spastic paraplegia 51' or 'hereditary spastic paraplegia 47' or 'hereditary spastic paraplegia 52' 'Severe intellectual disability and progressive spastic paraplegia' SubClassOf 'syndromic intellectual disability' 'Severe intellectual disability and progressive spastic paraplegia' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Severe intellectual disability and progressive spastic paraplegia' SubClassOf 'Autosomal recessive complex spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_289103 Hypocalcemic rickets 'Hypocalcemic rickets' SubClassOf 'rickets' 'Hypocalcemic rickets' SubClassOf 'Disorders of vitamin D metabolism' 'Hypocalcemic rickets' SubClassOf 'Disorders of vitamin D metabolism' http://www.orpha.net/ORDO/Orphanet_363400 Severe neurodegenerative syndrome with lipodystrophy 'Severe neurodegenerative syndrome with lipodystrophy' SubClassOf 'Genetic neurodegenerative disease' 'Severe neurodegenerative syndrome with lipodystrophy' SubClassOf 'Genetic lipodystrophy' 'Severe neurodegenerative syndrome with lipodystrophy' SubClassOf 'Genetic neurodegenerative disease' 'Severe neurodegenerative syndrome with lipodystrophy' SubClassOf 'Genetic lipodystrophy' http://www.orpha.net/ORDO/Orphanet_314485 Young adult-onset distal hereditary motor neuropathy 'Young adult-onset distal hereditary motor neuropathy' SubClassOf 'Autosomal recessive distal hereditary motor neuropathy' 'Young adult-onset distal hereditary motor neuropathy' SubClassOf 'spinal muscular atrophy' 'Young adult-onset distal hereditary motor neuropathy' SubClassOf 'Autosomal recessive distal hereditary motor neuropathy' http://www.orpha.net/ORDO/Orphanet_399391 Osteochondrosis of genetic origin 'Osteochondrosis of genetic origin' SubClassOf 'Osteonecrosis of genetic origin' 'Osteochondrosis of genetic origin' SubClassOf 'Osteonecrosis of genetic origin' http://www.orpha.net/ORDO/Orphanet_228140 Idiopathic ventricular fibrillation, not Brugada type 'Idiopathic ventricular fibrillation, not Brugada type' SubClassOf 'Genetic cardiac rhythm disease' 'Idiopathic ventricular fibrillation, not Brugada type' SubClassOf 'paroxysmal familial ventricular fibrillation' 'Idiopathic ventricular fibrillation, not Brugada type' SubClassOf 'Genetic cardiac rhythm disease' http://www.orpha.net/ORDO/Orphanet_228169 Autosomal dominant striatal neurodegeneration 'Autosomal dominant striatal neurodegeneration' SubClassOf 'striatal degeneration, autosomal dominant' 'Autosomal dominant striatal neurodegeneration' SubClassOf 'parkinsonian disorder' http://purl.obolibrary.org/obo/MONDO_0018470 renal agenesis 'renal agenesis' SubClassOf 'Genetic non-syndromic renal or urinary tract malformation' 'renal agenesis' SubClassOf 'disease causes feature' some 'Potter sequence' 'renal agenesis' SubClassOf 'genetic disorder' 'renal agenesis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019720 'renal agenesis' SubClassOf 'disease causes feature' some 'Potter sequence' http://purl.obolibrary.org/obo/MONDO_0018469 pulmonary non-tuberculous mycobacterial infection 'pulmonary non-tuberculous mycobacterial infection' DisjointWith 'Tuberculosis' http://purl.obolibrary.org/obo/MONDO_0018076 DisjointWith 'pulmonary non-tuberculous mycobacterial infection' http://www.orpha.net/ORDO/Orphanet_228184 Heart-hand syndrome 'Heart-hand syndrome' SubClassOf 'Dysostosis of genetic origin' 'Heart-hand syndrome' SubClassOf 'congenital limb malformation' http://www.orpha.net/ORDO/Orphanet_228179 Autosomal dominant Charcot-Marie-Tooth disease type 2M 'Autosomal dominant Charcot-Marie-Tooth disease type 2M' SubClassOf 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type B' 'Autosomal dominant Charcot-Marie-Tooth disease type 2M' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'Autosomal dominant Charcot-Marie-Tooth disease type 2M' SubClassOf 'Autosomal dominant Charcot-Marie-Tooth disease type 2' 'Autosomal dominant Charcot-Marie-Tooth disease type 2M' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://purl.obolibrary.org/obo/MONDO_0018477 bilirubin encephalopathy 'bilirubin encephalopathy' SubClassOf 'Neurometabolic disease' 'bilirubin encephalopathy' SubClassOf 'Disorder of bilirubin metabolism and excretion' 'bilirubin encephalopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019058 'bilirubin encephalopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017755 http://www.orpha.net/ORDO/Orphanet_228174 Autosomal dominant Charcot-Marie-Tooth disease type 2N 'Autosomal dominant Charcot-Marie-Tooth disease type 2N' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'Autosomal dominant Charcot-Marie-Tooth disease type 2N' SubClassOf 'Autosomal dominant Charcot-Marie-Tooth disease type 2' 'Autosomal dominant Charcot-Marie-Tooth disease type 2N' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://purl.obolibrary.org/obo/MONDO_0018492 hereditary clear cell renal cell carcinoma 'hereditary clear cell renal cell carcinoma' SubClassOf 'clear cell renal carcinoma' 'hereditary clear cell renal cell carcinoma' SubClassOf 'Inherited renal cancer-predisposing syndrome' 'hereditary clear cell renal cell carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017891 'hereditary clear cell renal cell carcinoma' SubClassOf 'clear cell renal carcinoma' http://purl.obolibrary.org/obo/MONDO_0018491 3-phosphoglycerate dehydrogenase deficiency '3-phosphoglycerate dehydrogenase deficiency' SubClassOf 'Neurometabolic disorder due to serine deficiency' '3-phosphoglycerate dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018162 http://www.orpha.net/ORDO/Orphanet_169349 Immuno-osseous dysplasia 'Immuno-osseous dysplasia' SubClassOf 'Primary immunodeficiency due to a defect in adaptive immunity' 'Immuno-osseous dysplasia' SubClassOf 'Other immunodeficiency syndrome due to defects in adaptive immunity' 'Immuno-osseous dysplasia' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0043452 chromosome 8, trisomy 'chromosome 8, trisomy' SubClassOf 'Autosomal trisomy' http://www.orpha.net/ORDO/Orphanet_169346 DNA repair defect other than combined T-cell and B-cell immunodeficiencies 'DNA repair defect other than combined T-cell and B-cell immunodeficiencies' SubClassOf 'Other immunodeficiency syndrome due to defects in adaptive immunity' 'DNA repair defect other than combined T-cell and B-cell immunodeficiencies' SubClassOf 'immunodeficiency disease' http://www.ebi.ac.uk/efo/EFO_1000903 drug-induced akathisia 'drug-induced akathisia' SubClassOf 'nervous system disease' 'drug-induced akathisia' SubClassOf 'nervous system disease' http://www.ebi.ac.uk/efo/EFO_1000906 dry eye syndrome 'dry eye syndrome' SubClassOf 'keratoconjunctivitis' 'dry eye syndrome' SubClassOf 'syndromic disease' 'dry eye syndrome' SubClassOf 'keratoconjunctivitis' 'dry eye syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_1000914 empty sella syndrome 'empty sella syndrome' SubClassOf 'syndromic disease' 'empty sella syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0018496 ARX-related encephalopathy-brain malformation spectrum 'ARX-related encephalopathy-brain malformation spectrum' SubClassOf 'Syndromic urogenital tract malformation' 'ARX-related encephalopathy-brain malformation spectrum' SubClassOf 'ARX-related epileptic encephalopathy' 'ARX-related encephalopathy-brain malformation spectrum' SubClassOf 'X-linked syndromic intellectual disability' 'ARX-related encephalopathy-brain malformation spectrum' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015620 'ARX-related encephalopathy-brain malformation spectrum' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 'ARX-related encephalopathy-brain malformation spectrum' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015921 http://www.ebi.ac.uk/efo/EFO_1000917 endocrine tuberculosis 'endocrine tuberculosis' SubClassOf 'Tuberculosis' 'endocrine tuberculosis' SubClassOf 'Tuberculosis' 'endocrine tuberculosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018076 http://www.orpha.net/ORDO/Orphanet_172976 Congenital myopathy with cores 'Congenital myopathy with cores' SubClassOf 'Congenital myopathy' 'Congenital myopathy with cores' SubClassOf 'Congenital myopathy' http://www.ebi.ac.uk/efo/EFO_1000936 femoral neuropathy 'femoral neuropathy' SubClassOf 'limb disorder' http://www.ebi.ac.uk/efo/EFO_1000931 euthyroid sick syndrome 'euthyroid sick syndrome' SubClassOf 'thyroid disease' 'euthyroid sick syndrome' SubClassOf 'syndromic disease' 'euthyroid sick syndrome' SubClassOf 'thyroid disease' 'euthyroid sick syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_1000939 freemartinism 'freemartinism' SubClassOf 'Sex chromosome disorder of sex development' 'freemartinism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017975 http://www.ebi.ac.uk/efo/EFO_1000940 Frey Syndrome 'Frey Syndrome' SubClassOf 'Rare genetic neurological disorder' 'Frey Syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.ebi.ac.uk/efo/EFO_0004895 Tourette syndrome 'Tourette syndrome' SubClassOf 'Rare genetic neurological disorder' 'Tourette syndrome' SubClassOf 'syndromic disease' 'Tourette syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 'Tourette syndrome' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_79503 Ichthyosis hystrix of Curth-Macklin 'Ichthyosis hystrix of Curth-Macklin' SubClassOf 'Keratinopathic ichthyosis' 'Ichthyosis hystrix of Curth-Macklin' SubClassOf 'Keratinopathic ichthyosis' http://www.orpha.net/ORDO/Orphanet_79502 Punctate palmoplantar keratoderma type 2 'Punctate palmoplantar keratoderma type 2' SubClassOf 'Isolated punctate palmoplantar keratoderma' 'Punctate palmoplantar keratoderma type 2' SubClassOf 'Isolated punctate palmoplantar keratoderma' http://www.ebi.ac.uk/efo/EFO_1000946 gastric mucosal hypertrophy 'gastric mucosal hypertrophy' SubClassOf 'gastritis' 'gastric mucosal hypertrophy' SubClassOf 'gastritis' http://www.orpha.net/ORDO/Orphanet_79504 Ichthyosis hystrix gravior 'Ichthyosis hystrix gravior' SubClassOf 'Keratinopathic ichthyosis' 'Ichthyosis hystrix gravior' SubClassOf 'Keratinopathic ichthyosis' http://www.orpha.net/ORDO/Orphanet_79501 Punctate palmoplantar keratoderma type 1 'Punctate palmoplantar keratoderma type 1' SubClassOf 'Isolated punctate palmoplantar keratoderma' 'Punctate palmoplantar keratoderma type 1' SubClassOf 'Isolated punctate palmoplantar keratoderma' http://www.orpha.net/ORDO/Orphanet_79500 DOORS syndrome 'DOORS syndrome' SubClassOf 'Deafness-onychodystrophy syndrome' 'DOORS syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000949 gastroschisis 'gastroschisis' SubClassOf 'Primary short bowel syndrome' 'gastroschisis' SubClassOf 'genetic disorder' 'gastroschisis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018241 http://www.orpha.net/ORDO/Orphanet_231720 Non-acquired combined pituitary hormone deficiency with spine abnormalities 'Non-acquired combined pituitary hormone deficiency with spine abnormalities' SubClassOf 'Combined pituitary hormone deficiencies, genetic forms' http://www.ebi.ac.uk/efo/EFO_1000951 glossitis 'glossitis' SubClassOf 'head and neck disorder' http://www.ebi.ac.uk/efo/EFO_1000968 hydrophthalmos 'hydrophthalmos' SubClassOf 'Congenital glaucoma' http://www.orpha.net/ORDO/Orphanet_231742 Epibulbar lipodermoid - preauricular appendage - polythelia 'Epibulbar lipodermoid - preauricular appendage - polythelia' SubClassOf 'has modifier' some 'rare' 'Epibulbar lipodermoid - preauricular appendage - polythelia' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Epibulbar lipodermoid - preauricular appendage - polythelia' SubClassOf 'Genetic branchial arch or oral-acral syndrome' http://www.ebi.ac.uk/efo/EFO_1000970 hypercementosis 'hypercementosis' SubClassOf 'tooth hard tissue disease' 'hypercementosis' SubClassOf 'tooth hard tissue disease' http://www.ebi.ac.uk/efo/EFO_1000977 hypertensive retinopathy 'hypertensive retinopathy' SubClassOf 'retinopathy' 'hypertensive retinopathy' SubClassOf 'retinopathy' http://www.ebi.ac.uk/efo/EFO_1000975 hypersplenism 'hypersplenism' SubClassOf 'splenic disease' 'hypersplenism' SubClassOf 'splenic disease' http://www.orpha.net/ORDO/Orphanet_363412 Hypomyelination with brain stem and spinal cord involvement and leg spasticity 'Hypomyelination with brain stem and spinal cord involvement and leg spasticity' SubClassOf 'Leukodystrophy' 'Hypomyelination with brain stem and spinal cord involvement and leg spasticity' SubClassOf 'Leukodystrophy' http://www.orpha.net/ORDO/Orphanet_363409 Fetal akinesia-cerebral and retinal hemorrhage syndrome 'Fetal akinesia-cerebral and retinal hemorrhage syndrome' SubClassOf 'Congenital myopathy' 'Fetal akinesia-cerebral and retinal hemorrhage syndrome' SubClassOf 'Lethal congenital contracture syndrome' 'Fetal akinesia-cerebral and retinal hemorrhage syndrome' SubClassOf 'Congenital myopathy' http://www.orpha.net/ORDO/Orphanet_363424 Hypotonia-cerebral atrophy-hyperglycinemia syndrome 'Hypotonia-cerebral atrophy-hyperglycinemia syndrome' SubClassOf 'Fatal multiple mitochondrial dysfunction syndrome' 'Hypotonia-cerebral atrophy-hyperglycinemia syndrome' SubClassOf 'Neurometabolic disease' 'Hypotonia-cerebral atrophy-hyperglycinemia syndrome' SubClassOf 'Fatal multiple mitochondrial dysfunction syndrome' http://www.orpha.net/ORDO/Orphanet_289098 Disorders of vitamin D metabolism 'Disorders of vitamin D metabolism' SubClassOf 'endocrine system disease' 'Disorders of vitamin D metabolism' SubClassOf 'vitamin metabolic disorder' 'Disorders of vitamin D metabolism' SubClassOf 'vitamin metabolic disorder' http://www.orpha.net/ORDO/Orphanet_363417 Temtamy preaxial brachydactyly syndrome 'Temtamy preaxial brachydactyly syndrome' SubClassOf 'Congenital disorder of glycosylation-related bone disorder' 'Temtamy preaxial brachydactyly syndrome' SubClassOf 'congenital nervous system disorder' 'Temtamy preaxial brachydactyly syndrome' SubClassOf 'autosomal recessive disease' 'Temtamy preaxial brachydactyly syndrome' SubClassOf 'Disorder of O-xylosylglycan synthesis' 'Temtamy preaxial brachydactyly syndrome' SubClassOf 'congenital limb malformation' 'Temtamy preaxial brachydactyly syndrome' SubClassOf 'Syndromic genetic deafness' 'Temtamy preaxial brachydactyly syndrome' SubClassOf 'Congenital disorder of glycosylation-related bone disorder' 'Temtamy preaxial brachydactyly syndrome' SubClassOf 'Disorder of O-xylosylglycan synthesis' http://www.orpha.net/ORDO/Orphanet_363432 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency 'Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency' SubClassOf 'Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome' 'Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency' SubClassOf 'Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome' http://www.orpha.net/ORDO/Orphanet_363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome 'Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome' SubClassOf 'Disorder of amino acid absorption and transport' 'Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome' SubClassOf 'Autosomal recessive metabolic cerebellar ataxia' 'Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome' SubClassOf 'Disorder of amino acid absorption and transport' 'Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome' SubClassOf 'Autosomal recessive metabolic cerebellar ataxia' http://www.orpha.net/ORDO/Orphanet_363447 Autosomal dominant childhood-onset proximal spinal muscular atrophy 'Autosomal dominant childhood-onset proximal spinal muscular atrophy' SubClassOf 'Autosomal dominant proximal spinal muscular atrophy' 'Autosomal dominant childhood-onset proximal spinal muscular atrophy' SubClassOf 'Autosomal dominant proximal spinal muscular atrophy' http://www.orpha.net/ORDO/Orphanet_363444 Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type 'Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79507 Hypotonia - failure to thrive - microcephaly 'Hypotonia - failure to thrive - microcephaly' SubClassOf 'Inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_79506 Cholesterol-ester transfer protein deficiency 'Cholesterol-ester transfer protein deficiency' SubClassOf 'Hyperalphalipoproteinemia' 'Cholesterol-ester transfer protein deficiency' SubClassOf 'Hyperalphalipoproteinemia' http://www.orpha.net/ORDO/Orphanet_363454 Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures 'Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures' SubClassOf 'Autosomal dominant childhood-onset proximal spinal muscular atrophy' 'Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures' SubClassOf 'Autosomal dominant childhood-onset proximal spinal muscular atrophy' http://www.orpha.net/ORDO/Orphanet_206701 Bulbospinal muscular atrophy 'Bulbospinal muscular atrophy' SubClassOf 'spinal muscular atrophy' http://www.orpha.net/ORDO/Orphanet_206707 Bulbospinal muscular atrophy of adult 'Bulbospinal muscular atrophy of adult' SubClassOf 'Bulbospinal muscular atrophy' 'Bulbospinal muscular atrophy of adult' SubClassOf 'Bulbospinal muscular atrophy' http://www.orpha.net/ORDO/Orphanet_206704 Bulbospinal muscular atrophy of children 'Bulbospinal muscular atrophy of children' SubClassOf 'Bulbospinal muscular atrophy' 'Bulbospinal muscular atrophy of children' SubClassOf 'Bulbospinal muscular atrophy' http://www.orpha.net/ORDO/Orphanet_206710 Generalized bulbospinal muscular atrophy 'Generalized bulbospinal muscular atrophy' SubClassOf 'Bulbospinal muscular atrophy' 'Generalized bulbospinal muscular atrophy' SubClassOf 'Bulbospinal muscular atrophy' http://www.orpha.net/ORDO/Orphanet_206713 Distal spinal muscular atrophy 'Distal spinal muscular atrophy' SubClassOf 'spinal muscular atrophy' 'Distal spinal muscular atrophy' SubClassOf 'Genetic motor neuron disease' 'Distal spinal muscular atrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_55596 Autosomal dominant limb-girdle muscular dystrophy type 1G 'Autosomal dominant limb-girdle muscular dystrophy type 1G' SubClassOf 'Autosomal dominant limb-girdle muscular dystrophy' 'Autosomal dominant limb-girdle muscular dystrophy type 1G' SubClassOf 'Autosomal dominant limb-girdle muscular dystrophy' http://www.orpha.net/ORDO/Orphanet_55595 Autosomal dominant limb-girdle muscular dystrophy type 1F 'Autosomal dominant limb-girdle muscular dystrophy type 1F' SubClassOf 'Autosomal dominant limb-girdle muscular dystrophy' 'Autosomal dominant limb-girdle muscular dystrophy type 1F' SubClassOf 'Autosomal dominant limb-girdle muscular dystrophy' http://www.orpha.net/ORDO/Orphanet_1702 Non-distal trisomy 13q 'Non-distal trisomy 13q' SubClassOf 'chromosome 13q trisomy' 'Non-distal trisomy 13q' SubClassOf 'Partial duplication of the long arm of chromosome 13' 'Non-distal trisomy 13q' SubClassOf 'Partial duplication of the long arm of chromosome 13' http://www.orpha.net/ORDO/Orphanet_289483 Intellectual disability - alacrima - achalasia 'Intellectual disability - alacrima - achalasia' SubClassOf 'congenital nervous system disorder' 'Intellectual disability - alacrima - achalasia' SubClassOf 'Congenital alacrima' 'Intellectual disability - alacrima - achalasia' SubClassOf 'X-linked syndromic intellectual disability' 'Intellectual disability - alacrima - achalasia' SubClassOf 'Congenital alacrima' 'Intellectual disability - alacrima - achalasia' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' http://www.orpha.net/ORDO/Orphanet_1713 17p11.2 microduplication syndrome '17p11.2 microduplication syndrome' SubClassOf 'Partial duplication of the short arm of chromosome 17' '17p11.2 microduplication syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1711 Mosaic trisomy 17 'Mosaic trisomy 17' SubClassOf 'chromosome 17 disorder' 'Mosaic trisomy 17' SubClassOf 'trisomy' 'Mosaic trisomy 17' SubClassOf 'Total autosomal trisomy' 'Mosaic trisomy 17' SubClassOf 'has modifier' some 'mosaic' 'Mosaic trisomy 17' SubClassOf 'Total autosomal trisomy' http://www.orpha.net/ORDO/Orphanet_324321 Sinoatrial node dysfunction and deafness 'Sinoatrial node dysfunction and deafness' SubClassOf 'Genetic cardiac rhythm disease' 'Sinoatrial node dysfunction and deafness' SubClassOf 'Syndromic genetic deafness' 'Sinoatrial node dysfunction and deafness' SubClassOf 'disease has feature' some 'sinoatrial node disorder' 'Sinoatrial node dysfunction and deafness' SubClassOf 'Genetic cardiac rhythm disease' 'Sinoatrial node dysfunction and deafness' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_1707 Distal trisomy 15q 'Distal trisomy 15q' SubClassOf '15q overgrowth syndrome' 'Distal trisomy 15q' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017806 http://www.orpha.net/ORDO/Orphanet_1708 Mosaic trisomy 16 'Mosaic trisomy 16' SubClassOf 'Total autosomal trisomy' 'Mosaic trisomy 16' SubClassOf 'chromosome 16 trisomy' 'Mosaic trisomy 16' SubClassOf 'has modifier' some 'mosaic' 'Mosaic trisomy 16' SubClassOf 'Total autosomal trisomy' http://www.orpha.net/ORDO/Orphanet_1705 Distal trisomy 14q 'Distal trisomy 14q' SubClassOf 'Partial duplication of the long arm of chromosome 14' 'Distal trisomy 14q' SubClassOf 'Syndromic epicanthus' 'Distal trisomy 14q' SubClassOf 'Partial duplication of the long arm of chromosome 14' 'Distal trisomy 14q' SubClassOf 'Syndromic epicanthus' http://www.orpha.net/ORDO/Orphanet_300373 Familial infantile gigantism 'Familial infantile gigantism' SubClassOf 'endocrine system disease' http://www.orpha.net/ORDO/Orphanet_1706 Mosaic trisomy 15 'Mosaic trisomy 15' SubClassOf 'chromosome 15 disorder' 'Mosaic trisomy 15' SubClassOf 'Total autosomal trisomy' 'Mosaic trisomy 15' SubClassOf 'has modifier' some 'mosaic' 'Mosaic trisomy 15' SubClassOf 'trisomy' 'Mosaic trisomy 15' SubClassOf 'Total autosomal trisomy' http://www.orpha.net/ORDO/Orphanet_1703 Mosaic trisomy 14 'Mosaic trisomy 14' SubClassOf 'Total autosomal trisomy' 'Mosaic trisomy 14' SubClassOf 'chromosome 14 disorder' 'Mosaic trisomy 14' SubClassOf 'has modifier' some 'mosaic' 'Mosaic trisomy 14' SubClassOf 'trisomy' 'Mosaic trisomy 14' SubClassOf 'Total autosomal trisomy' http://www.orpha.net/ORDO/Orphanet_289499 Congenital cataract microcornea with corneal opacity 'Congenital cataract microcornea with corneal opacity' SubClassOf 'Isolated congenital sclerocornea' 'Congenital cataract microcornea with corneal opacity' SubClassOf 'Syndromic cataract' 'Congenital cataract microcornea with corneal opacity' SubClassOf 'Familial ocular anterior segment mesenchymal dysgenesis' 'Congenital cataract microcornea with corneal opacity' SubClassOf 'Syndromic cataract' http://purl.obolibrary.org/obo/MONDO_0008905 predisposition to invasive fungal disease due to CARD9 deficiency 'predisposition to invasive fungal disease due to CARD9 deficiency' SubClassOf 'Chronic mucocutaneous candidosis' 'predisposition to invasive fungal disease due to CARD9 deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015279 http://www.orpha.net/ORDO/Orphanet_1723 Mosaic trisomy 2 'Mosaic trisomy 2' SubClassOf 'Total autosomal trisomy' 'Mosaic trisomy 2' SubClassOf 'trisomy' 'Mosaic trisomy 2' SubClassOf 'has modifier' some 'mosaic' 'Mosaic trisomy 2' SubClassOf 'chromosome 2 disorder' 'Mosaic trisomy 2' SubClassOf 'Total autosomal trisomy' http://www.orpha.net/ORDO/Orphanet_1724 Mosaic trisomy 20 'Mosaic trisomy 20' SubClassOf 'has modifier' some 'mosaic' 'Mosaic trisomy 20' SubClassOf 'Total autosomal trisomy' 'Mosaic trisomy 20' SubClassOf 'chromosome 20 trisomy' 'Mosaic trisomy 20' SubClassOf 'Total autosomal trisomy' http://www.orpha.net/ORDO/Orphanet_324313 9p13 microdeletion syndrome '9p13 microdeletion syndrome' SubClassOf 'Monosomy 9p' '9p13 microdeletion syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' '9p13 microdeletion syndrome' SubClassOf 'syndromic intellectual disability' '9p13 microdeletion syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1716 Distal trisomy 18q 'Distal trisomy 18q' SubClassOf 'Partial trisomy of the long arm of chromosome 18' 'Distal trisomy 18q' SubClassOf 'Partial trisomy of the long arm of chromosome 18' http://www.orpha.net/ORDO/Orphanet_1717 Distal trisomy 19q 'Distal trisomy 19q' SubClassOf 'Partial duplication of the long arm of chromosome 19' 'Distal trisomy 19q' SubClassOf 'Partial duplication of the long arm of chromosome 19' http://www.orpha.net/ORDO/Orphanet_1715 Trisomy 18p 'Trisomy 18p' SubClassOf 'Partial trisomy/tetrasomy of the short arm of chromosome 18' 'Trisomy 18p' SubClassOf 'Partial trisomy/tetrasomy of the short arm of chromosome 18' http://www.orpha.net/ORDO/Orphanet_300345 Autosomal recessive systemic lupus erythematosus 'Autosomal recessive systemic lupus erythematosus' SubClassOf 'type 1 interferonopathy' 'Autosomal recessive systemic lupus erythematosus' SubClassOf 'systemic lupus erythematosus' http://www.orpha.net/ORDO/Orphanet_363965 Koolen-De Vries syndrome due to a point mutation 'Koolen-De Vries syndrome due to a point mutation' SubClassOf 'Koolen-De Vries syndrome' 'Koolen-De Vries syndrome due to a point mutation' SubClassOf 'Koolen-De Vries syndrome' http://www.orpha.net/ORDO/Orphanet_314993 Cataract-congenital heart disease-neural tube defect syndrome 'Cataract-congenital heart disease-neural tube defect syndrome' SubClassOf 'disorder of development or morphogenesis' 'Cataract-congenital heart disease-neural tube defect syndrome' SubClassOf 'Syndromic cataract' 'Cataract-congenital heart disease-neural tube defect syndrome' SubClassOf 'has modifier' some 'congenital' 'Cataract-congenital heart disease-neural tube defect syndrome' SubClassOf 'Syndromic cataract' http://www.orpha.net/ORDO/Orphanet_1727 22q11.2 microduplication syndrome '22q11.2 microduplication syndrome' SubClassOf 'Partial duplication of the long arm of chromosome 22' '22q11.2 microduplication syndrome' SubClassOf 'Partial duplication of the long arm of chromosome 22' http://www.orpha.net/ORDO/Orphanet_324307 Severe lateral tibial bowing with short stature 'Severe lateral tibial bowing with short stature' SubClassOf 'Bent bone dysplasia' 'Severe lateral tibial bowing with short stature' SubClassOf 'Bent bone dysplasia' http://www.orpha.net/ORDO/Orphanet_300359 PLCG2-associated antibody deficiency and immune dysregulation 'PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf 'autoinflammatory syndrome' 'PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf 'hereditary disorder of connective tissue' http://www.orpha.net/ORDO/Orphanet_363958 17q21.31 microdeletion syndrome '17q21.31 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 17' '17q21.31 microdeletion syndrome' SubClassOf 'Koolen-De Vries syndrome' '17q21.31 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 17' '17q21.31 microdeletion syndrome' SubClassOf 'Koolen-De Vries syndrome' http://www.orpha.net/ORDO/Orphanet_363972 Noonan syndrome-like disorder with juvenile myelomonocytic leukemia 'Noonan syndrome-like disorder with juvenile myelomonocytic leukemia' SubClassOf 'rasopathy' 'Noonan syndrome-like disorder with juvenile myelomonocytic leukemia' SubClassOf 'Noonan syndrome and Noonan-related syndrome' 'Noonan syndrome-like disorder with juvenile myelomonocytic leukemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020297 http://www.orpha.net/ORDO/Orphanet_363969 Autosomal recessive cerebral atrophy 'Autosomal recessive cerebral atrophy' SubClassOf 'autosomal recessive disease' 'Autosomal recessive cerebral atrophy' SubClassOf 'Genetic neurodegenerative disease' 'Autosomal recessive cerebral atrophy' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_363981 Charcot-Marie-Tooth disease type 4B3 'Charcot-Marie-Tooth disease type 4B3' SubClassOf 'Charcot-Marie-Tooth disease type 4' 'Charcot-Marie-Tooth disease type 4B3' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_314978 X-linked non progressive cerebellar ataxia 'X-linked non progressive cerebellar ataxia' SubClassOf 'X-linked cerebellar ataxia' 'X-linked non progressive cerebellar ataxia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_300333 Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome 'Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome' SubClassOf 'Syndromic genetic deafness' 'Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome' SubClassOf 'Epidermolysis bullosa simplex' 'Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome' SubClassOf 'Basement membrane disease' 'Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome' SubClassOf 'Syndromic genetic deafness' 'Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome' SubClassOf 'Basement membrane disease' http://www.orpha.net/ORDO/Orphanet_300337 Congenital blindness due to retinal non-attachment 'Congenital blindness due to retinal non-attachment' SubClassOf 'Genetic vitreous-retinal disease' 'Congenital blindness due to retinal non-attachment' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_363992 Ichthyosis-short stature-brachydactyly-microspherophakia syndrome 'Ichthyosis-short stature-brachydactyly-microspherophakia syndrome' SubClassOf 'Weill-Marchesani syndrome' http://www.orpha.net/ORDO/Orphanet_70589 Bronchopulmonary dysplasia 'Bronchopulmonary dysplasia' SubClassOf 'Non-syndromic respiratory or mediastinal malformation' 'Bronchopulmonary dysplasia' SubClassOf 'Genetic respiratory malformation' http://www.orpha.net/ORDO/Orphanet_289465 Isolated adermatoglyphia 'Isolated adermatoglyphia' SubClassOf 'autosomal dominant disease' 'Isolated adermatoglyphia' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency 'Immunodeficiency due to selective anti-polysaccharide antibody deficiency' SubClassOf 'immunodeficiency disease' http://www.orpha.net/ORDO/Orphanet_70592 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency 'Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency' SubClassOf 'immunodeficiency disease' 'Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency' SubClassOf 'Genetic susceptibility to infections due to particular pathogens' 'Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency' SubClassOf 'Genetic susceptibility to infections due to particular pathogens' http://www.orpha.net/ORDO/Orphanet_70595 Sensory ataxic neuropathy - dysarthria - ophthalmoparesis 'Sensory ataxic neuropathy - dysarthria - ophthalmoparesis' SubClassOf 'metabolic epilepsy' 'Sensory ataxic neuropathy - dysarthria - ophthalmoparesis' SubClassOf 'Mitochondrial myopathy' 'Sensory ataxic neuropathy - dysarthria - ophthalmoparesis' SubClassOf 'Progressive myoclonic epilepsy' 'Sensory ataxic neuropathy - dysarthria - ophthalmoparesis' SubClassOf 'Ataxia neuropathy spectrum' 'Sensory ataxic neuropathy - dysarthria - ophthalmoparesis' SubClassOf 'Mitochondrial myopathy' 'Sensory ataxic neuropathy - dysarthria - ophthalmoparesis' SubClassOf 'Ataxia neuropathy spectrum' http://www.orpha.net/ORDO/Orphanet_70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency 'Dopa-responsive dystonia due to sepiapterin reductase deficiency' SubClassOf 'Dopa-responsive dystonia' 'Dopa-responsive dystonia due to sepiapterin reductase deficiency' SubClassOf 'Cerebral organic aciduria' 'Dopa-responsive dystonia due to sepiapterin reductase deficiency' SubClassOf 'tetrahydrobiopterin metabolic process disease' 'Dopa-responsive dystonia due to sepiapterin reductase deficiency' SubClassOf 'Disorder of pterin metabolism' 'Dopa-responsive dystonia due to sepiapterin reductase deficiency' SubClassOf 'Dopa-responsive dystonia' 'Dopa-responsive dystonia due to sepiapterin reductase deficiency' SubClassOf 'Disorder of pterin metabolism' http://www.orpha.net/ORDO/Orphanet_300305 11p15.4 microduplication syndrome '11p15.4 microduplication syndrome' SubClassOf 'Partial duplication of the short arm of chromosome 11' '11p15.4 microduplication syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '11p15.4 microduplication syndrome' SubClassOf 'Overgrowth syndrome' '11p15.4 microduplication syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_363989 Familial benign flecked retina 'Familial benign flecked retina' SubClassOf 'Retinal dystrophy' 'Familial benign flecked retina' SubClassOf 'Retinal dystrophy' http://www.orpha.net/ORDO/Orphanet_300319 Autosomal dominant Charcot-Marie-Tooth disease type 2P 'Autosomal dominant Charcot-Marie-Tooth disease type 2P' SubClassOf 'Autosomal dominant Charcot-Marie-Tooth disease type 2' 'Autosomal dominant Charcot-Marie-Tooth disease type 2P' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_300313 Congenital cataract-hearing loss-severe developmental delay syndrome 'Congenital cataract-hearing loss-severe developmental delay syndrome' SubClassOf 'Syndromic cataract' 'Congenital cataract-hearing loss-severe developmental delay syndrome' SubClassOf 'congenital nervous system disorder' 'Congenital cataract-hearing loss-severe developmental delay syndrome' SubClassOf 'Neurometabolic disease' 'Congenital cataract-hearing loss-severe developmental delay syndrome' SubClassOf 'Syndromic cataract' 'Congenital cataract-hearing loss-severe developmental delay syndrome' SubClassOf 'Neurometabolic disease' http://www.ebi.ac.uk/efo/EFO_1000620 Vaginal Squamous Cell Carcinoma 'Vaginal Squamous Cell Carcinoma' SubClassOf 'vaginal carcinoma' 'Vaginal Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' 'Vaginal Squamous Cell Carcinoma' SubClassOf 'vaginal carcinoma' 'Vaginal Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' http://www.ebi.ac.uk/efo/EFO_1000624 Vulvar Squamous Cell Carcinoma 'Vulvar Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' 'Vulvar Squamous Cell Carcinoma' SubClassOf 'vulvar carcinoma' 'Vulvar Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' 'Vulvar Squamous Cell Carcinoma' SubClassOf 'vulvar carcinoma' http://www.ebi.ac.uk/efo/EFO_1000637 acute respiratory distress syndrome 'acute respiratory distress syndrome' SubClassOf 'syndromic disease' 'acute respiratory distress syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0033947 hereditary angioedema with normal C1Inh 'hereditary angioedema with normal C1Inh' SubClassOf 'Hereditary angioedema' 'hereditary angioedema with normal C1Inh' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019623 http://purl.obolibrary.org/obo/MONDO_0033946 hereditary angioedema with C1Inh deficiency 'hereditary angioedema with C1Inh deficiency' SubClassOf 'Hereditary angioedema' 'hereditary angioedema with C1Inh deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019623 http://www.ebi.ac.uk/efo/EFO_1000649 estrogen-receptor positive breast cancer 'estrogen-receptor positive breast cancer' SubClassOf 'breast carcinoma' 'estrogen-receptor positive breast cancer' SubClassOf 'breast carcinoma' http://www.ebi.ac.uk/efo/EFO_1000646 papillary carcinoma 'papillary carcinoma' SubClassOf 'carcinoma' 'papillary carcinoma' SubClassOf 'carcinoma' http://www.ebi.ac.uk/efo/EFO_1000645 orthostatic intolerance 'orthostatic intolerance' SubClassOf 'Rare genetic neurological disorder' 'orthostatic intolerance' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.ebi.ac.uk/efo/EFO_1000654 childhood cancer 'childhood cancer' SubClassOf 'childhood neoplasm' 'childhood cancer' SubClassOf 'cancer' 'childhood cancer' SubClassOf 'childhood neoplasm' 'childhood cancer' SubClassOf 'cancer' http://www.ebi.ac.uk/efo/EFO_1000651 recalcitrant atopic dermatitis 'recalcitrant atopic dermatitis' SubClassOf 'atopic eczema' 'recalcitrant atopic dermatitis' SubClassOf 'atopic eczema' http://www.orpha.net/ORDO/Orphanet_324381 Hereditary inclusion body myopathy type 4 'Hereditary inclusion body myopathy type 4' SubClassOf 'Inclusion myopathy' 'Hereditary inclusion body myopathy type 4' SubClassOf 'Inclusion myopathy' http://www.ebi.ac.uk/efo/EFO_1000650 estrogen-receptor negative breast cancer 'estrogen-receptor negative breast cancer' SubClassOf 'breast carcinoma' 'estrogen-receptor negative breast cancer' SubClassOf 'breast carcinoma' http://www.ebi.ac.uk/efo/EFO_1000665 acrodermatitis chronica atrophicans 'acrodermatitis chronica atrophicans' SubClassOf 'acrodermatitis' 'acrodermatitis chronica atrophicans' SubClassOf 'acrodermatitis' http://www.ebi.ac.uk/efo/EFO_0002630 restrictive cardiomyopathy 'restrictive cardiomyopathy' SubClassOf 'intrinsic cardiomyopathy' 'restrictive cardiomyopathy' SubClassOf 'intrinsic cardiomyopathy' http://www.ebi.ac.uk/efo/EFO_1000661 Achenbach syndrome 'Achenbach syndrome' SubClassOf 'syndromic disease' 'Achenbach syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_1000668 allergic contact dermatitis 'allergic contact dermatitis' SubClassOf 'contact dermatitis' 'allergic contact dermatitis' SubClassOf 'contact dermatitis' http://www.ebi.ac.uk/efo/EFO_1000669 allergic urticaria 'allergic urticaria' SubClassOf 'urticaria' 'allergic urticaria' SubClassOf 'urticaria' http://www.ebi.ac.uk/efo/EFO_0002626 thymus neoplasm 'thymus neoplasm' SubClassOf 'neoplasm of thorax' http://www.ebi.ac.uk/efo/EFO_1000677 cholesteatoma of external ear 'cholesteatoma of external ear' SubClassOf 'external ear disease' 'cholesteatoma of external ear' SubClassOf 'external ear disease' http://www.orpha.net/ORDO/Orphanet_324364 Mixed sclerosing bone dystrophy with extra-skeletal manifestations 'Mixed sclerosing bone dystrophy with extra-skeletal manifestations' SubClassOf 'bone disease' http://purl.obolibrary.org/obo/MONDO_0018330 mucinous adenocarcinoma of the appendix 'mucinous adenocarcinoma of the appendix' SubClassOf 'Appendix Adenocarcinoma' 'mucinous adenocarcinoma of the appendix' SubClassOf 'Appendix Adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1000681 congenital generalized lipodystrophy 'congenital generalized lipodystrophy' SubClassOf 'Genetic lipodystrophy' 'congenital generalized lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020087 http://www.orpha.net/ORDO/Orphanet_300382 Progeroid and marfanoid aspect-lipodystrophy syndrome 'Progeroid and marfanoid aspect-lipodystrophy syndrome' SubClassOf 'hereditary disorder of connective tissue' http://www.orpha.net/ORDO/Orphanet_324353 Congenital achiasma 'Congenital achiasma' SubClassOf 'Cranial nerve and nuclear aplasia' 'Congenital achiasma' SubClassOf 'congenital nervous system disorder' 'Congenital achiasma' SubClassOf 'Cranial nerve and nuclear aplasia' http://www.ebi.ac.uk/efo/EFO_1000692 epidermolysis bullosa dystrophica 'epidermolysis bullosa dystrophica' SubClassOf 'Inherited epidermolysis bullosa' 'epidermolysis bullosa dystrophica' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019276 http://purl.obolibrary.org/obo/MONDO_0018352 squamous cell carcinoma of penis 'squamous cell carcinoma of penis' SubClassOf 'squamous cell carcinoma' 'squamous cell carcinoma of penis' SubClassOf 'Penile Carcinoma' 'squamous cell carcinoma of penis' SubClassOf 'squamous cell carcinoma' 'squamous cell carcinoma of penis' SubClassOf 'Penile Carcinoma' http://www.orpha.net/ORDO/Orphanet_228402 2q23.1 microdeletion syndrome '2q23.1 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 2' '2q23.1 microdeletion syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0018365 malignant non-epithelial tumor of ovary 'malignant non-epithelial tumor of ovary' SubClassOf 'ovarian cancer' 'malignant non-epithelial tumor of ovary' DisjointWith 'Malignant epithelial tumor of ovary' 'malignant non-epithelial tumor of ovary' SubClassOf 'ovarian cancer' http://purl.obolibrary.org/obo/MONDO_0018364 DisjointWith 'malignant non-epithelial tumor of ovary' http://purl.obolibrary.org/obo/MONDO_0018379 primary avascular necrosis 'primary avascular necrosis' SubClassOf 'avascular necrosis' 'primary avascular necrosis' SubClassOf 'avascular necrosis' http://purl.obolibrary.org/obo/MONDO_0018374 secondary avascular necrosis 'secondary avascular necrosis' SubClassOf 'avascular necrosis' 'secondary avascular necrosis' SubClassOf 'avascular necrosis' http://www.orpha.net/ORDO/Orphanet_228426 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 'Genetic intractable diarrhea of infancy' 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf 'respiratory system disease' 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf 'congenital nervous system disorder' 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf 'Genetic intractable diarrhea of infancy' 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_228423 Monocytopenia with susceptibility to infections 'Monocytopenia with susceptibility to infections' SubClassOf 'GATA2 deficiency with susceptibility to MDS/AML' 'Monocytopenia with susceptibility to infections' SubClassOf 'quantitative and/or qualitative congenital phagocyte defect' http://www.orpha.net/ORDO/Orphanet_228429 Generalized congenital lipodystrophy with myopathy 'Generalized congenital lipodystrophy with myopathy' SubClassOf 'diabetes mellitus' 'Generalized congenital lipodystrophy with myopathy' SubClassOf 'Genetic cardiac rhythm disease' 'Generalized congenital lipodystrophy with myopathy' SubClassOf 'congenital generalized lipodystrophy' 'Generalized congenital lipodystrophy with myopathy' SubClassOf 'Non-dystrophic myopathy' 'Generalized congenital lipodystrophy with myopathy' SubClassOf 'has modifier' some 'congenital' 'Generalized congenital lipodystrophy with myopathy' SubClassOf 'Genetic cardiac rhythm disease' 'Generalized congenital lipodystrophy with myopathy' SubClassOf 'Genetic lipodystrophy' 'Generalized congenital lipodystrophy with myopathy' SubClassOf 'Non-dystrophic myopathy' http://www.orpha.net/ORDO/Orphanet_216445 Prelingual non-syndromic genetic deafness 'Prelingual non-syndromic genetic deafness' SubClassOf 'Non-syndromic genetic deafness' 'Prelingual non-syndromic genetic deafness' SubClassOf 'Non-syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_228410 Polyvalvular heart disease syndrome 'Polyvalvular heart disease syndrome' SubClassOf 'heart disease' 'Polyvalvular heart disease syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://www.orpha.net/ORDO/Orphanet_228415 5q35 microduplication syndrome '5q35 microduplication syndrome' SubClassOf 'Partial trisomy of the long arm of chromosome 5' '5q35 microduplication syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_228418 Microcephaly - seizures - developmental delay 'Microcephaly - seizures - developmental delay' SubClassOf 'microcephaly' 'Microcephaly - seizures - developmental delay' SubClassOf 'developmental and epileptic encephalopathy' http://www.orpha.net/ORDO/Orphanet_216452 Postlingual non-syndromic genetic deafness 'Postlingual non-syndromic genetic deafness' SubClassOf 'Non-syndromic genetic deafness' 'Postlingual non-syndromic genetic deafness' SubClassOf 'Non-syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_179006 Primary immunodeficiency due to a defect in adaptive immunity 'Primary immunodeficiency due to a defect in adaptive immunity' SubClassOf 'has modifier' some 'rare' 'Primary immunodeficiency due to a defect in adaptive immunity' SubClassOf 'Primary immunodeficiency' 'Primary immunodeficiency due to a defect in adaptive immunity' SubClassOf 'primary immunodeficiency disease' 'Primary immunodeficiency due to a defect in adaptive immunity' SubClassOf 'primary immunodeficiency disease' http://www.ebi.ac.uk/efo/EFO_1000607 Undifferentiated Pancreatic Carcinoma with Osteoclast-Like Giant Cells 'Undifferentiated Pancreatic Carcinoma with Osteoclast-Like Giant Cells' SubClassOf 'Undifferentiated Pancreatic Carcinoma' 'Undifferentiated Pancreatic Carcinoma with Osteoclast-Like Giant Cells' SubClassOf 'Undifferentiated Pancreatic Carcinoma' http://www.ebi.ac.uk/efo/EFO_1000604 Undifferentiated Gallbladder Carcinoma 'Undifferentiated Gallbladder Carcinoma' SubClassOf 'gallbladder carcinoma' 'Undifferentiated Gallbladder Carcinoma' SubClassOf 'undifferentiated carcinoma' 'Undifferentiated Gallbladder Carcinoma' SubClassOf 'gallbladder carcinoma' 'Undifferentiated Gallbladder Carcinoma' SubClassOf 'undifferentiated carcinoma' http://www.ebi.ac.uk/efo/EFO_1000605 Undifferentiated Ovarian Carcinoma 'Undifferentiated Ovarian Carcinoma' SubClassOf 'ovarian carcinoma' 'Undifferentiated Ovarian Carcinoma' SubClassOf 'undifferentiated carcinoma' 'Undifferentiated Ovarian Carcinoma' SubClassOf 'ovarian carcinoma' 'Undifferentiated Ovarian Carcinoma' SubClassOf 'undifferentiated carcinoma' http://www.ebi.ac.uk/efo/EFO_1000600 Tracheal Squamous Cell Carcinoma 'Tracheal Squamous Cell Carcinoma' SubClassOf 'Tracheal Carcinoma' 'Tracheal Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' 'Tracheal Squamous Cell Carcinoma' SubClassOf 'Tracheal Carcinoma' 'Tracheal Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' http://www.ebi.ac.uk/efo/EFO_1000601 Transitional Cell Carcinoma 'Transitional Cell Carcinoma' SubClassOf 'carcinoma' 'Transitional Cell Carcinoma' SubClassOf 'carcinoma' http://www.ebi.ac.uk/efo/EFO_1000608 Undifferentiated Pleomorphic Sarcoma, Inflammatory Variant 'Undifferentiated Pleomorphic Sarcoma, Inflammatory Variant' SubClassOf 'undifferentiated pleomorphic sarcoma' 'Undifferentiated Pleomorphic Sarcoma, Inflammatory Variant' SubClassOf 'undifferentiated pleomorphic sarcoma' http://www.ebi.ac.uk/efo/EFO_1000609 Ureter Carcinoma 'Ureter Carcinoma' SubClassOf 'ureter cancer' 'Ureter Carcinoma' SubClassOf 'carcinoma' 'Ureter Carcinoma' SubClassOf 'ureter cancer' 'Ureter Carcinoma' SubClassOf 'carcinoma' http://www.ebi.ac.uk/efo/EFO_1000610 Ureter Small Cell Carcinoma 'Ureter Small Cell Carcinoma' SubClassOf 'Ureter Carcinoma' 'Ureter Small Cell Carcinoma' SubClassOf 'small cell carcinoma' 'Ureter Small Cell Carcinoma' SubClassOf 'Ureter Carcinoma' 'Ureter Small Cell Carcinoma' SubClassOf 'small cell carcinoma' http://www.ebi.ac.uk/efo/EFO_1000617 Vaginal Adenoid Cystic Carcinoma 'Vaginal Adenoid Cystic Carcinoma' SubClassOf 'adenoid cystic carcinoma' 'Vaginal Adenoid Cystic Carcinoma' SubClassOf 'adenoid cystic carcinoma' http://www.ebi.ac.uk/efo/EFO_1000613 Uterine Carcinosarcoma 'Uterine Carcinosarcoma' SubClassOf 'carcinosarcoma' 'Uterine Carcinosarcoma' SubClassOf 'carcinosarcoma' http://www.orpha.net/ORDO/Orphanet_1782 Dysosteosclerosis 'Dysosteosclerosis' SubClassOf 'Osteopetrosis' 'Dysosteosclerosis' SubClassOf 'Osteopetrosis' http://www.orpha.net/ORDO/Orphanet_1787 Acrofacial dysostosis, Palagonia type 'Acrofacial dysostosis, Palagonia type' SubClassOf 'Acrofacial dysostosis' 'Acrofacial dysostosis, Palagonia type' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Acrofacial dysostosis, Palagonia type' SubClassOf 'Acrofacial dysostosis' 'Acrofacial dysostosis, Palagonia type' SubClassOf 'Genetic branchial arch or oral-acral syndrome' http://www.orpha.net/ORDO/Orphanet_1788 Acrofacial dysostosis, Rodríguez type 'Acrofacial dysostosis, Rodríguez type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Acrofacial dysostosis, Rodríguez type' SubClassOf 'congenital nervous system disorder' 'Acrofacial dysostosis, Rodríguez type' SubClassOf 'Acrofacial dysostosis' 'Acrofacial dysostosis, Rodríguez type' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Acrofacial dysostosis, Rodríguez type' SubClassOf 'syndromic intellectual disability' 'Acrofacial dysostosis, Rodríguez type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Acrofacial dysostosis, Rodríguez type' SubClassOf 'Acrofacial dysostosis' 'Acrofacial dysostosis, Rodríguez type' SubClassOf 'Genetic branchial arch or oral-acral syndrome' http://www.orpha.net/ORDO/Orphanet_1786 Acrofacial dysostosis, Catania type 'Acrofacial dysostosis, Catania type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Acrofacial dysostosis, Catania type' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Acrofacial dysostosis, Catania type' SubClassOf 'Acrofacial dysostosis' 'Acrofacial dysostosis, Catania type' SubClassOf 'syndromic intellectual disability' 'Acrofacial dysostosis, Catania type' SubClassOf 'congenital nervous system disorder' 'Acrofacial dysostosis, Catania type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Acrofacial dysostosis, Catania type' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Acrofacial dysostosis, Catania type' SubClassOf 'Acrofacial dysostosis' http://www.orpha.net/ORDO/Orphanet_1784 Acro-fronto-facio-nasal dysostosis 'Acro-fronto-facio-nasal dysostosis' SubClassOf 'Acrofacial dysostosis' 'Acro-fronto-facio-nasal dysostosis' SubClassOf 'Acrofacial dysostosis' http://www.orpha.net/ORDO/Orphanet_1790 Hypomandibular faciocranial dysostosis 'Hypomandibular faciocranial dysostosis' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Hypomandibular faciocranial dysostosis' SubClassOf 'cranial malformation' http://www.orpha.net/ORDO/Orphanet_1791 Frontofacionasal dysplasia 'Frontofacionasal dysplasia' SubClassOf 'Syndromic palpebral coloboma' 'Frontofacionasal dysplasia' SubClassOf 'Frontonasal dysplasia' 'Frontofacionasal dysplasia' SubClassOf 'Syndromic ankyloblepharon' 'Frontofacionasal dysplasia' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Frontofacionasal dysplasia' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Frontofacionasal dysplasia' SubClassOf 'median facial cleft' 'Frontofacionasal dysplasia' SubClassOf 'Frontonasal dysplasia' 'Frontofacionasal dysplasia' SubClassOf 'Syndromic palpebral coloboma' 'Frontofacionasal dysplasia' SubClassOf 'Syndromic ankyloblepharon' 'Frontofacionasal dysplasia' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Frontofacionasal dysplasia' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_1798 Dysostosis, Stanescu type 'Dysostosis, Stanescu type' SubClassOf 'familial osteosclerosis' 'Dysostosis, Stanescu type' SubClassOf 'osteosclerosis' http://www.orpha.net/ORDO/Orphanet_1797 Autosomal dominant spondylocostal dysostosis 'Autosomal dominant spondylocostal dysostosis' SubClassOf 'autosomal dominant disease' 'Autosomal dominant spondylocostal dysostosis' SubClassOf 'spondylocostal dysostosis' http://www.orpha.net/ORDO/Orphanet_1794 Oculomaxillofacial dysostosis 'Oculomaxillofacial dysostosis' SubClassOf 'Dysostosis of genetic origin' 'Oculomaxillofacial dysostosis' SubClassOf 'Orofacial clefting syndrome' 'Oculomaxillofacial dysostosis' SubClassOf 'Orofacial clefting syndrome' http://www.orpha.net/ORDO/Orphanet_1795 Peripheral dysostosis 'Peripheral dysostosis' SubClassOf 'Acromelic dysplasia' 'Peripheral dysostosis' SubClassOf 'Acromelic dysplasia' http://www.orpha.net/ORDO/Orphanet_1745 Distal trisomy 6p 'Distal trisomy 6p' SubClassOf 'Partial duplication of the short arm of chromosome 6' 'Distal trisomy 6p' SubClassOf 'Partial duplication of the short arm of chromosome 6' http://www.orpha.net/ORDO/Orphanet_31043 Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement' SubClassOf 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis' 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1742 Trisomy 5p 'Trisomy 5p' SubClassOf 'Partial trisomy/tetrasomy of the short arm of chromosome 5' 'Trisomy 5p' SubClassOf 'Overgrowth syndrome' 'Trisomy 5p' SubClassOf 'Partial trisomy/tetrasomy of the short arm of chromosome 5' http://www.orpha.net/ORDO/Orphanet_1738 Trisomy 4p 'Trisomy 4p' SubClassOf 'Partial duplication of the short arm of chromosome 4' 'Trisomy 4p' SubClassOf 'Partial duplication of the short arm of chromosome 4' http://www.orpha.net/ORDO/Orphanet_1756 Caudal duplication 'Caudal duplication' SubClassOf 'Syndromic anorectal malformation' 'Caudal duplication' SubClassOf 'Syndromic anorectal malformation' http://www.orpha.net/ORDO/Orphanet_69663 Low phospholipid associated cholelithiasis 'Low phospholipid associated cholelithiasis' SubClassOf 'gallbladder disease' 'Low phospholipid associated cholelithiasis' SubClassOf 'cholangitis' http://www.orpha.net/ORDO/Orphanet_1757 Fibular dimelia - diplopodia 'Fibular dimelia - diplopodia' SubClassOf 'congenital limb malformation' http://www.orpha.net/ORDO/Orphanet_1752 Trisomy 8q 'Trisomy 8q' SubClassOf 'Partial duplication of the long arm of chromosome 8' 'Trisomy 8q' SubClassOf 'Partial duplication of the long arm of chromosome 8' http://www.orpha.net/ORDO/Orphanet_1747 Mosaic trisomy 7 'Mosaic trisomy 7' SubClassOf 'has modifier' some 'mosaic' 'Mosaic trisomy 7' SubClassOf 'trisomy' 'Mosaic trisomy 7' SubClassOf 'chromosome 7 disorder' 'Mosaic trisomy 7' SubClassOf 'Total autosomal trisomy' 'Mosaic trisomy 7' SubClassOf 'Total autosomal trisomy' http://www.orpha.net/ORDO/Orphanet_1768 Familial caudal dysgenesis 'Familial caudal dysgenesis' SubClassOf 'congenital nervous system disorder' 'Familial caudal dysgenesis' SubClassOf 'caudal regression-sirenomelia spectrum' 'Familial caudal dysgenesis' SubClassOf 'Rare genetic neurological disorder' 'Familial caudal dysgenesis' SubClassOf 'Syndromic anorectal malformation' http://www.orpha.net/ORDO/Orphanet_1765 Dyschondrosteosis - nephritis 'Dyschondrosteosis - nephritis' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' 'Dyschondrosteosis - nephritis' SubClassOf 'Syndromic urogenital tract malformation' 'Dyschondrosteosis - nephritis' SubClassOf 'Syndromic renal or urinary tract malformation' 'Dyschondrosteosis - nephritis' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' 'Dyschondrosteosis - nephritis' SubClassOf 'Syndromic renal or urinary tract malformation' http://www.orpha.net/ORDO/Orphanet_1766 Dysequilibrium syndrome 'Dysequilibrium syndrome' SubClassOf 'syndromic disease' 'Dysequilibrium syndrome' SubClassOf 'Autosomal recessive congenital cerebellar ataxia' 'Dysequilibrium syndrome' SubClassOf 'Autosomal recessive congenital cerebellar ataxia' http://www.orpha.net/ORDO/Orphanet_1764 Familial dysautonomia 'Familial dysautonomia' SubClassOf 'Autosomal recessive hereditary sensory and autonomic neuropathy' 'Familial dysautonomia' SubClassOf 'Genetic dermis disorder' 'Familial dysautonomia' SubClassOf 'primary orthostatic hypotension' 'Familial dysautonomia' SubClassOf 'Nervous system anomaly with eye involvement' 'Familial dysautonomia' SubClassOf 'neurocristopathy' 'Familial dysautonomia' SubClassOf 'Congenital alacrima' 'Familial dysautonomia' SubClassOf 'congenital nervous system disorder' 'Familial dysautonomia' SubClassOf 'Genetic neuro-ophthalmological disease' 'Familial dysautonomia' SubClassOf 'genetic skin disease' 'Familial dysautonomia' SubClassOf 'dermis disorder' 'Familial dysautonomia' SubClassOf 'Autosomal recessive hereditary sensory and autonomic neuropathy' 'Familial dysautonomia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019276 'Familial dysautonomia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015368 'Familial dysautonomia' SubClassOf 'Congenital alacrima' http://www.orpha.net/ORDO/Orphanet_1762 Trisomy Xq28 'Trisomy Xq28' SubClassOf 'X-linked syndromic intellectual disability' 'Trisomy Xq28' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Trisomy Xq28' SubClassOf 'Partial duplication of the long arm of chromosome X' 'Trisomy Xq28' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1759 Thoraco-abdominal enteric duplication 'Thoraco-abdominal enteric duplication' SubClassOf 'Syndromic intestinal malformation' 'Thoraco-abdominal enteric duplication' SubClassOf 'Syndromic intestinal malformation' http://www.orpha.net/ORDO/Orphanet_1770 Gonadal dysgenesis, XY type - associated anomalies 'Gonadal dysgenesis, XY type - associated anomalies' SubClassOf 'Genetic 46,XY disorder of sex development' http://www.orpha.net/ORDO/Orphanet_1778 Facial dysmorphism - shawl scrotum - joint laxity 'Facial dysmorphism - shawl scrotum - joint laxity' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Facial dysmorphism - shawl scrotum - joint laxity' SubClassOf 'syndromic intellectual disability' 'Facial dysmorphism - shawl scrotum - joint laxity' SubClassOf 'congenital nervous system disorder' 'Facial dysmorphism - shawl scrotum - joint laxity' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_1779 Dysmorphism - cleft palate - loose skin 'Dysmorphism - cleft palate - loose skin' SubClassOf 'Orofacial clefting syndrome' 'Dysmorphism - cleft palate - loose skin' SubClassOf 'Orofacial clefting syndrome' http://www.orpha.net/ORDO/Orphanet_1777 Temtamy syndrome 'Temtamy syndrome' SubClassOf 'Rare genetic neurological disorder' 'Temtamy syndrome' SubClassOf 'congenital nervous system disorder' 'Temtamy syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Temtamy syndrome' SubClassOf 'syndromic intellectual disability' 'Temtamy syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_1775 Dyskeratosis congenita 'Dyskeratosis congenita' SubClassOf 'Inherited cancer-predisposing syndrome' 'Dyskeratosis congenita' SubClassOf 'Other immunodeficiency syndrome due to defects in adaptive immunity' 'Dyskeratosis congenita' SubClassOf 'X-linked syndromic intellectual disability' 'Dyskeratosis congenita' SubClassOf 'Ectodermal dysplasia syndrome' 'Dyskeratosis congenita' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 'Dyskeratosis congenita' SubClassOf 'Inherited cancer-predisposing syndrome' 'Dyskeratosis congenita' SubClassOf 'immunodeficiency disease' 'Dyskeratosis congenita' SubClassOf 'inherited aplastic anemia' 'Dyskeratosis congenita' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_1772 45,X/46,XY mixed gonadal dysgenesis '45,X/46,XY mixed gonadal dysgenesis' SubClassOf 'Male infertility due to gonadal dysgenesis' '45,X/46,XY mixed gonadal dysgenesis' SubClassOf 'Y chromosome number anomaly' '45,X/46,XY mixed gonadal dysgenesis' SubClassOf 'Sex chromosome disorder of sex development' '45,X/46,XY mixed gonadal dysgenesis' SubClassOf 'Gonadal dysgenesis of gynecological interest' '45,X/46,XY mixed gonadal dysgenesis' SubClassOf 'chromosome Y disorder' '45,X/46,XY mixed gonadal dysgenesis' SubClassOf 'gonadal dysgenesis' '45,X/46,XY mixed gonadal dysgenesis' SubClassOf 'male infertility' '45,X/46,XY mixed gonadal dysgenesis' SubClassOf 'monosomy' '45,X/46,XY mixed gonadal dysgenesis' SubClassOf 'has modifier' some 'mosaic' '45,X/46,XY mixed gonadal dysgenesis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_289365 Familial vesicoureteral reflux 'Familial vesicoureteral reflux' SubClassOf 'non-syndromic urogenital tract malformation of male and female' 'Familial vesicoureteral reflux' SubClassOf 'vesicoureteral reflux' 'Familial vesicoureteral reflux' SubClassOf 'disease of genitourinary system' 'Familial vesicoureteral reflux' EquivalentTo 'vesicoureteral reflux' and ('has modifier' some 'inherited') 'Familial vesicoureteral reflux' SubClassOf 'Genetic urogenital tract malformation' http://www.orpha.net/ORDO/Orphanet_289377 Early-onset myopathy with fatal cardiomyopathy 'Early-onset myopathy with fatal cardiomyopathy' SubClassOf 'neuromuscular disease' 'Early-onset myopathy with fatal cardiomyopathy' SubClassOf 'TTN-related myopathy' 'Early-onset myopathy with fatal cardiomyopathy' SubClassOf 'Non-dystrophic myopathy' 'Early-onset myopathy with fatal cardiomyopathy' SubClassOf 'Qualitative or quantitative defects of titin' http://www.orpha.net/ORDO/Orphanet_324442 Autosomal recessive axonal neuropathy with neuromyotonia 'Autosomal recessive axonal neuropathy with neuromyotonia' SubClassOf 'Autosomal recessive axonal Charcot-Marie-Tooth disease type 2' 'Autosomal recessive axonal neuropathy with neuromyotonia' SubClassOf 'autosomal recessive axonal hereditary motor and sensory neuropathy' 'Autosomal recessive axonal neuropathy with neuromyotonia' SubClassOf 'syndromic disease' 'Autosomal recessive axonal neuropathy with neuromyotonia' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://www.orpha.net/ORDO/Orphanet_300496 Multiple congenital anomalies-hypotonia-seizures syndrome type 2 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf 'multiple congenital anomalies-hypotonia-seizures syndrome' 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf 'developmental and epileptic encephalopathy' 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf 'Rare syndromic dyslipidemia' 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_289380 Myosclerosis 'Myosclerosis' SubClassOf 'collagen 6-related myopathy' http://www.orpha.net/ORDO/Orphanet_1600 Monosomy 18q 'Monosomy 18q' SubClassOf 'Partial deletion of the long arm of chromosome 18' 'Monosomy 18q' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Monosomy 18q' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_324422 ALG13-CDG 'ALG13-CDG' SubClassOf 'congenital disorder of glycosylation type I' 'ALG13-CDG' SubClassOf 'Disorder of protein N-glycosylation' 'ALG13-CDG' SubClassOf 'developmental and epileptic encephalopathy' 'ALG13-CDG' SubClassOf 'Disorder of protein N-glycosylation' http://www.orpha.net/ORDO/Orphanet_1606 1p36 deletion syndrome '1p36 deletion syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 1' '1p36 deletion syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 1' http://www.orpha.net/ORDO/Orphanet_324410 X-linked intellectual disability - cardiomegaly - congestive heart failure 'X-linked intellectual disability - cardiomegaly - congestive heart failure' SubClassOf 'Genetic cardiac rhythm disease' 'X-linked intellectual disability - cardiomegaly - congestive heart failure' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability - cardiomegaly - congestive heart failure' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 'X-linked intellectual disability - cardiomegaly - congestive heart failure' SubClassOf 'Genetic cardiac rhythm disease' http://www.orpha.net/ORDO/Orphanet_324416 Muscular hypertrophy - hepatomegaly - polyhydramnios 'Muscular hypertrophy - hepatomegaly - polyhydramnios' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Muscular hypertrophy - hepatomegaly - polyhydramnios' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_70470 Hyperlipoproteinemia type 5 'Hyperlipoproteinemia type 5' SubClassOf 'Major hypertriglyceridemia' 'Hyperlipoproteinemia type 5' SubClassOf 'familial hyperlipidemia' 'Hyperlipoproteinemia type 5' SubClassOf 'Major hypertriglyceridemia' http://www.orpha.net/ORDO/Orphanet_70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 'Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type' SubClassOf 'congenital nervous system disorder' 'Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type' SubClassOf 'Leigh syndrome' 'Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type' SubClassOf 'Neurometabolic disease' 'Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0009723 http://www.orpha.net/ORDO/Orphanet_70474 Leigh syndrome with cardiomyopathy 'Leigh syndrome with cardiomyopathy' SubClassOf 'disease has feature' some 'cardiomyopathy' 'Leigh syndrome with cardiomyopathy' SubClassOf 'Leigh syndrome' 'Leigh syndrome with cardiomyopathy' EquivalentTo 'Leigh syndrome' and ('disease has feature' some 'cardiomyopathy') 'Leigh syndrome with cardiomyopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0021804 silicotuberculosis 'silicotuberculosis' EquivalentTo 'silicosis' and 'Tuberculosis' 'silicotuberculosis' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0018076 and 'silicosis' http://www.orpha.net/ORDO/Orphanet_228366 CLN7 disease 'CLN7 disease' SubClassOf 'Late infantile neuronal ceroid lipofuscinosis' 'CLN7 disease' SubClassOf 'Late infantile neuronal ceroid lipofuscinosis' http://www.ebi.ac.uk/efo/EFO_1000744 occupational dermatitis 'occupational dermatitis' SubClassOf 'contact dermatitis' 'occupational dermatitis' SubClassOf 'contact dermatitis' http://www.orpha.net/ORDO/Orphanet_228363 CLN6 disease 'CLN6 disease' SubClassOf 'CLN4A disease' 'CLN6 disease' SubClassOf 'Late infantile neuronal ceroid lipofuscinosis' 'CLN6 disease' SubClassOf 'Adult neuronal ceroid lipofuscinosis' 'CLN6 disease' SubClassOf 'Late infantile neuronal ceroid lipofuscinosis' http://www.orpha.net/ORDO/Orphanet_228360 CLN5 disease 'CLN5 disease' SubClassOf 'Late infantile neuronal ceroid lipofuscinosis' 'CLN5 disease' SubClassOf 'Late infantile neuronal ceroid lipofuscinosis' http://www.orpha.net/ORDO/Orphanet_279943 Hereditary neutrophilia 'Hereditary neutrophilia' SubClassOf 'leukocyte disorder' http://www.orpha.net/ORDO/Orphanet_228354 CLN8 disease 'CLN8 disease' SubClassOf 'Late infantile neuronal ceroid lipofuscinosis' 'CLN8 disease' SubClassOf 'Juvenile neuronal ceroid lipofuscinosis' 'CLN8 disease' SubClassOf 'Late infantile neuronal ceroid lipofuscinosis' 'CLN8 disease' SubClassOf 'Juvenile neuronal ceroid lipofuscinosis' http://purl.obolibrary.org/obo/MONDO_0008856 immunodeficiency 27A 'immunodeficiency 27A' SubClassOf 'Mendelian susceptibility to mycobacterial diseases' 'immunodeficiency 27A' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019146 http://www.orpha.net/ORDO/Orphanet_228357 CLN9 disease 'CLN9 disease' SubClassOf 'Juvenile neuronal ceroid lipofuscinosis' 'CLN9 disease' SubClassOf 'Juvenile neuronal ceroid lipofuscinosis' http://www.ebi.ac.uk/efo/EFO_1000753 phototoxic dermatitis 'phototoxic dermatitis' SubClassOf 'photosensitivity disease' 'phototoxic dermatitis' SubClassOf 'photosensitivity disease' http://www.ebi.ac.uk/efo/EFO_1000758 punctate palmoplantar keratoderma type III 'punctate palmoplantar keratoderma type III' SubClassOf 'Genetic dermis elastic tissue disorder' 'punctate palmoplantar keratoderma type III' SubClassOf 'Marginal papular palmoplantar keratoderma' 'punctate palmoplantar keratoderma type III' SubClassOf 'Punctate palmoplantar keratoderma' 'punctate palmoplantar keratoderma type III' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017676 'punctate palmoplantar keratoderma type III' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019292 http://purl.obolibrary.org/obo/MONDO_0008869 Seckel syndrome 1 'Seckel syndrome 1' SubClassOf 'Seckel syndrome' 'Seckel syndrome 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019342 http://www.orpha.net/ORDO/Orphanet_228387 Spondylo-megaepiphyseal-metaphyseal dysplasia 'Spondylo-megaepiphyseal-metaphyseal dysplasia' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondylo-megaepiphyseal-metaphyseal dysplasia' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_279934 Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency 'Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency' SubClassOf 'Mitochondrial DNA depletion syndrome, hepatocerebral form' 'Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency' SubClassOf 'Disorder of purine metabolism' 'Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency' SubClassOf 'Mitochondrial DNA depletion syndrome, hepatocerebral form' 'Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency' SubClassOf 'Disorder of purine metabolism' http://www.ebi.ac.uk/efo/EFO_1000767 skin sarcoidosis 'skin sarcoidosis' SubClassOf 'Sarcoidosis' 'skin sarcoidosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019338 http://www.ebi.ac.uk/efo/EFO_1000765 seborrheic infantile dermatitis 'seborrheic infantile dermatitis' SubClassOf 'seborrheic dermatitis' 'seborrheic infantile dermatitis' SubClassOf 'seborrheic dermatitis' http://www.orpha.net/ORDO/Orphanet_289307 Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency 'Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency' SubClassOf 'Disorder of branched-chain amino acid metabolism' 'Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency' SubClassOf 'Disorder of branched-chain amino acid metabolism' http://www.orpha.net/ORDO/Orphanet_228384 5q14.3 microdeletion syndrome '5q14.3 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 5' '5q14.3 microdeletion syndrome' SubClassOf 'epilepsy' '5q14.3 microdeletion syndrome' SubClassOf 'Rare genetic neurological disorder' '5q14.3 microdeletion syndrome' SubClassOf 'syndromic disease' '5q14.3 microdeletion syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '5q14.3 microdeletion syndrome' SubClassOf 'congenital nervous system disorder' '5q14.3 microdeletion syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000779 vulvar seborrheic keratosis 'vulvar seborrheic keratosis' SubClassOf 'Genetic skin tumor' 'vulvar seborrheic keratosis' SubClassOf 'seborrheic keratosis' 'vulvar seborrheic keratosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015950 'vulvar seborrheic keratosis' SubClassOf 'seborrheic keratosis' http://www.ebi.ac.uk/efo/EFO_1000777 vulva fibroepithelial polyp 'vulva fibroepithelial polyp' SubClassOf 'polyp of vulva' 'vulva fibroepithelial polyp' SubClassOf 'polyp of vulva' http://www.orpha.net/ORDO/Orphanet_228374 Severe early-onset axonal neuropathy due to NEFL deficiency 'Severe early-onset axonal neuropathy due to NEFL deficiency' SubClassOf 'autosomal recessive axonal hereditary motor and sensory neuropathy' 'Severe early-onset axonal neuropathy due to NEFL deficiency' SubClassOf 'Autosomal recessive axonal Charcot-Marie-Tooth disease type 2' 'Severe early-onset axonal neuropathy due to NEFL deficiency' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://purl.obolibrary.org/obo/MONDO_0008887 bronchiectasis with or without elevated sweat chloride 1 'bronchiectasis with or without elevated sweat chloride 1' SubClassOf 'idiopathic bronchiectasis' 'bronchiectasis with or without elevated sweat chloride 1' SubClassOf 'idiopathic bronchiectasis' http://www.ebi.ac.uk/efo/EFO_1000786 osteoarthritis, hip 'osteoarthritis, hip' SubClassOf 'osteoarthritis' 'osteoarthritis, hip' SubClassOf 'osteoarthritis' http://www.ebi.ac.uk/efo/EFO_1000783 diabetic neuropathy 'diabetic neuropathy' SubClassOf 'peripheral neuropathy' 'diabetic neuropathy' SubClassOf 'peripheral neuropathy' http://www.ebi.ac.uk/efo/EFO_0002511 simple cystadenoma 'simple cystadenoma' SubClassOf 'cystadenoma' 'simple cystadenoma' SubClassOf 'cystadenoma' http://www.ebi.ac.uk/efo/EFO_1000780 autoimmune pancreatitis type 1 'autoimmune pancreatitis type 1' SubClassOf 'autoimmune pancreatitis' 'autoimmune pancreatitis type 1' SubClassOf 'autoimmune pancreatitis' http://www.ebi.ac.uk/efo/EFO_0002517 pancreatic ductal adenocarcinoma 'pancreatic ductal adenocarcinoma' SubClassOf 'pancreatic adenocarcinoma' 'pancreatic ductal adenocarcinoma' SubClassOf 'pancreatic adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1000789 osteoarthritis, hand 'osteoarthritis, hand' SubClassOf 'osteoarthritis' 'osteoarthritis, hand' SubClassOf 'osteoarthritis' http://www.ebi.ac.uk/efo/EFO_1000787 osteoarthritis, spine 'osteoarthritis, spine' SubClassOf 'osteoarthritis' 'osteoarthritis, spine' SubClassOf 'osteoarthritis' http://www.ebi.ac.uk/efo/EFO_1000788 osteoarthritis, toe 'osteoarthritis, toe' SubClassOf 'osteoarthritis' 'osteoarthritis, toe' SubClassOf 'osteoarthritis' http://purl.obolibrary.org/obo/MONDO_0018201 extragonadal germ cell tumor 'extragonadal germ cell tumor' SubClassOf 'germ cell tumor' 'extragonadal germ cell tumor' SubClassOf 'germ cell tumor' http://purl.obolibrary.org/obo/MONDO_0018202 gonadal germ cell tumor 'gonadal germ cell tumor' SubClassOf 'germ cell tumor' 'gonadal germ cell tumor' SubClassOf 'germ cell tumor' http://www.orpha.net/ORDO/Orphanet_228399 8q12 microduplication syndrome '8q12 microduplication syndrome' SubClassOf 'Partial duplication of the long arm of chromosome 8' '8q12 microduplication syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000796 adrenal cortex carcinoma 'adrenal cortex carcinoma' SubClassOf 'malignant tumor of adrenal cortex' 'adrenal cortex carcinoma' SubClassOf 'malignant tumor of adrenal cortex' http://www.ebi.ac.uk/efo/EFO_1000794 acute kidney tubular necrosis 'acute kidney tubular necrosis' SubClassOf 'acute kidney failure' 'acute kidney tubular necrosis' SubClassOf 'acute kidney failure' http://www.ebi.ac.uk/efo/EFO_1000790 acalculous cholecystitis 'acalculous cholecystitis' SubClassOf 'Genetic biliary tract disease' 'acalculous cholecystitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015509 http://www.ebi.ac.uk/efo/EFO_0002504 serous cystadenoma 'serous cystadenoma' SubClassOf 'cystadenoma' 'serous cystadenoma' SubClassOf 'cystadenoma' http://www.ebi.ac.uk/efo/EFO_0002509 progressive external ophthalmoplegia 'progressive external ophthalmoplegia' SubClassOf 'Mitochondrial myopathy' 'progressive external ophthalmoplegia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0009637 http://purl.obolibrary.org/obo/MONDO_0018215 paraneoplastic neurologic syndrome 'paraneoplastic neurologic syndrome' SubClassOf 'paraneoplastic syndrome' 'paraneoplastic neurologic syndrome' SubClassOf 'paraneoplastic syndrome' http://www.orpha.net/ORDO/Orphanet_228390 Frontonasal dysplasia with alopecia and genital anomaly 'Frontonasal dysplasia with alopecia and genital anomaly' SubClassOf 'Frontonasal dysplasia' 'Frontonasal dysplasia with alopecia and genital anomaly' SubClassOf 'genetic alopecia' 'Frontonasal dysplasia with alopecia and genital anomaly' SubClassOf 'Frontonasal dysplasia' http://www.orpha.net/ORDO/Orphanet_228396 Ptosis - upper ocular movement limitation - absence of lacrimal punctum 'Ptosis - upper ocular movement limitation - absence of lacrimal punctum' SubClassOf 'Eyelids malposition disorder' 'Ptosis - upper ocular movement limitation - absence of lacrimal punctum' SubClassOf 'Excretory apparatus of the lacrimal system anomaly' 'Ptosis - upper ocular movement limitation - absence of lacrimal punctum' SubClassOf 'Excretory apparatus of the lacrimal system anomaly' http://purl.obolibrary.org/obo/MONDO_0018233 otopalatodigital syndrome spectrum disorder 'otopalatodigital syndrome spectrum disorder' SubClassOf 'Primary bone dysplasia' 'otopalatodigital syndrome spectrum disorder' SubClassOf 'Filamin-related bone disorder' 'otopalatodigital syndrome spectrum disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018230 'otopalatodigital syndrome spectrum disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019690 http://www.orpha.net/ORDO/Orphanet_206973 Congenital myotonia 'Congenital myotonia' SubClassOf 'has modifier' some 'congenital' 'Congenital myotonia' SubClassOf 'Myotonic syndrome' 'Congenital myotonia' SubClassOf 'Myotonic syndrome' http://www.orpha.net/ORDO/Orphanet_206970 Myotonic syndrome 'Myotonic syndrome' SubClassOf 'syndromic disease' 'Myotonic syndrome' SubClassOf 'Genetic skeletal muscle disease' 'Myotonic syndrome' SubClassOf 'Genetic skeletal muscle disease' http://www.ebi.ac.uk/efo/EFO_0002431 tumour of cranial and spinal nerves 'tumour of cranial and spinal nerves' SubClassOf 'nervous system neoplasm' 'tumour of cranial and spinal nerves' SubClassOf 'nervous system neoplasm' http://www.ebi.ac.uk/efo/EFO_0002430 primary myelofibrosis 'primary myelofibrosis' SubClassOf 'telomere syndrome' 'primary myelofibrosis' SubClassOf 'anemia' 'primary myelofibrosis' SubClassOf 'inherited aplastic anemia' 'primary myelofibrosis' SubClassOf 'hereditary disorder of connective tissue' http://www.ebi.ac.uk/efo/EFO_0002422 benign neoplasm 'benign neoplasm' SubClassOf 'neoplasm' 'benign neoplasm' SubClassOf 'neoplasm' http://purl.obolibrary.org/obo/MONDO_0043224 multi-infarct dementia 'multi-infarct dementia' SubClassOf 'vascular dementia' 'multi-infarct dementia' SubClassOf 'vascular dementia' http://www.ebi.ac.uk/efo/EFO_0002428 chronic myeloproliferative disorder 'chronic myeloproliferative disorder' SubClassOf 'hereditary disorder of connective tissue' http://www.ebi.ac.uk/efo/EFO_0002429 polycythemia vera 'polycythemia vera' SubClassOf 'Genetic polycythemia' 'polycythemia vera' SubClassOf 'hereditary disorder of connective tissue' 'polycythemia vera' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001115 http://www.orpha.net/ORDO/Orphanet_228305 Carnitine palmitoyl transferase II deficiency, severe infantile form 'Carnitine palmitoyl transferase II deficiency, severe infantile form' SubClassOf 'Carnitine palmitoyltransferase II deficiency' 'Carnitine palmitoyl transferase II deficiency, severe infantile form' SubClassOf 'Carnitine palmitoyltransferase II deficiency' http://www.orpha.net/ORDO/Orphanet_228302 Carnitine palmitoyl transferase II deficiency, myopathic form 'Carnitine palmitoyl transferase II deficiency, myopathic form' SubClassOf 'Carnitine palmitoyltransferase II deficiency' 'Carnitine palmitoyl transferase II deficiency, myopathic form' SubClassOf 'Carnitine palmitoyltransferase II deficiency' http://www.orpha.net/ORDO/Orphanet_228308 Carnitine palmitoyl transferase II deficiency, neonatal form 'Carnitine palmitoyl transferase II deficiency, neonatal form' SubClassOf 'Carnitine palmitoyltransferase II deficiency' 'Carnitine palmitoyl transferase II deficiency, neonatal form' SubClassOf 'Carnitine palmitoyltransferase II deficiency' http://purl.obolibrary.org/obo/MONDO_0031230 mitochondrial complex II deficiency, nuclear type 'mitochondrial complex II deficiency, nuclear type' SubClassOf 'Mitochondrial myopathy' 'mitochondrial complex II deficiency, nuclear type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0009637 http://www.orpha.net/ORDO/Orphanet_228329 CLN1 disease 'CLN1 disease' SubClassOf 'Neuronal ceroid lipofuscinosis' http://www.ebi.ac.uk/efo/EFO_1000701 follicular mucinosis 'follicular mucinosis' SubClassOf 'genetic alopecia' 'follicular mucinosis' SubClassOf 'Alopecia' 'follicular mucinosis' SubClassOf 'Genetic sebaceous gland anomaly' 'follicular mucinosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004907 'follicular mucinosis' SubClassOf 'sebaceous gland anomaly' http://www.ebi.ac.uk/efo/EFO_1000718 irritant dermatitis 'irritant dermatitis' SubClassOf 'contact dermatitis' 'irritant dermatitis' SubClassOf 'contact dermatitis' http://www.orpha.net/ORDO/Orphanet_228343 CLN4B disease 'CLN4B disease' SubClassOf 'Adult neuronal ceroid lipofuscinosis' 'CLN4B disease' SubClassOf 'Adult neuronal ceroid lipofuscinosis' http://www.orpha.net/ORDO/Orphanet_228349 CLN2 disease 'CLN2 disease' SubClassOf 'Juvenile neuronal ceroid lipofuscinosis' 'CLN2 disease' SubClassOf 'Late infantile neuronal ceroid lipofuscinosis' 'CLN2 disease' SubClassOf 'Juvenile neuronal ceroid lipofuscinosis' 'CLN2 disease' SubClassOf 'Late infantile neuronal ceroid lipofuscinosis' http://www.orpha.net/ORDO/Orphanet_228346 CLN3 disease 'CLN3 disease' SubClassOf 'Juvenile neuronal ceroid lipofuscinosis' 'CLN3 disease' SubClassOf 'Juvenile neuronal ceroid lipofuscinosis' http://www.ebi.ac.uk/efo/EFO_0002499 anaplastic astrocytoma 'anaplastic astrocytoma' SubClassOf 'astrocytoma (excluding glioblastoma)' 'anaplastic astrocytoma' SubClassOf 'high grade astrocytic tumor' 'anaplastic astrocytoma' SubClassOf 'astrocytoma (excluding glioblastoma)' 'anaplastic astrocytoma' SubClassOf 'high grade astrocytic tumor' http://www.ebi.ac.uk/efo/EFO_1000721 kernicterus due to isoimmunization 'kernicterus due to isoimmunization' SubClassOf 'bilirubin encephalopathy' 'kernicterus due to isoimmunization' SubClassOf 'bilirubin encephalopathy' http://www.orpha.net/ORDO/Orphanet_228340 CLN4A disease 'CLN4A disease' SubClassOf 'Adult neuronal ceroid lipofuscinosis' 'CLN4A disease' SubClassOf 'Adult neuronal ceroid lipofuscinosis' http://www.ebi.ac.uk/efo/EFO_1000729 loiasis 'loiasis' SubClassOf 'filariasis' 'loiasis' SubClassOf 'filariasis' http://www.orpha.net/ORDO/Orphanet_228337 CLN10 disease 'CLN10 disease' SubClassOf 'Adult neuronal ceroid lipofuscinosis' 'CLN10 disease' SubClassOf 'Late infantile neuronal ceroid lipofuscinosis' 'CLN10 disease' SubClassOf 'Juvenile neuronal ceroid lipofuscinosis' 'CLN10 disease' SubClassOf 'Adult neuronal ceroid lipofuscinosis' 'CLN10 disease' SubClassOf 'Late infantile neuronal ceroid lipofuscinosis' 'CLN10 disease' SubClassOf 'Juvenile neuronal ceroid lipofuscinosis' http://www.orpha.net/ORDO/Orphanet_1660 Dermo-odonto dysplasia 'Dermo-odonto dysplasia' SubClassOf 'Ectodermal dysplasia syndrome' 'Dermo-odonto dysplasia' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_1661 X-linked corneal dermoid 'X-linked corneal dermoid' SubClassOf 'Syndromic corneal dystrophy' 'X-linked corneal dermoid' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1667 Wolcott-Rallison syndrome 'Wolcott-Rallison syndrome' SubClassOf 'syndromic disease' 'Wolcott-Rallison syndrome' SubClassOf 'autosomal recessive disease' 'Wolcott-Rallison syndrome' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Wolcott-Rallison syndrome' SubClassOf 'diabetes mellitus' 'Wolcott-Rallison syndrome' SubClassOf 'Rare genetic diabetes mellitus' 'Wolcott-Rallison syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1662 Lethal restrictive dermopathy 'Lethal restrictive dermopathy' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Lethal restrictive dermopathy' SubClassOf 'laminopathy' http://www.orpha.net/ORDO/Orphanet_300525 Pseudohypoaldosteronism type 2D 'Pseudohypoaldosteronism type 2D' SubClassOf 'Pseudohypoaldosteronism type 2' 'Pseudohypoaldosteronism type 2D' SubClassOf 'Pseudohypoaldosteronism type 2' http://www.orpha.net/ORDO/Orphanet_1671 Diastematomyelia 'Diastematomyelia' SubClassOf 'congenital nervous system disorder' 'Diastematomyelia' SubClassOf 'Neural tube defect' http://www.orpha.net/ORDO/Orphanet_1670 Chronic diarrhea with villous atrophy 'Chronic diarrhea with villous atrophy' SubClassOf 'Genetic intractable diarrhea of infancy' 'Chronic diarrhea with villous atrophy' SubClassOf 'Genetic intractable diarrhea of infancy' http://www.orpha.net/ORDO/Orphanet_1677 Familial idiopathic dilatation of the right atrium 'Familial idiopathic dilatation of the right atrium' SubClassOf 'idiopathic disease' 'Familial idiopathic dilatation of the right atrium' SubClassOf 'atrial defect and interatrial communication' http://www.orpha.net/ORDO/Orphanet_1675 Dihydropyrimidine dehydrogenase deficiency 'Dihydropyrimidine dehydrogenase deficiency' SubClassOf 'Osteochondrosis of genetic origin' 'Dihydropyrimidine dehydrogenase deficiency' SubClassOf 'Disorder of pyrimidine metabolism' 'Dihydropyrimidine dehydrogenase deficiency' SubClassOf 'Disorder of pyrimidine metabolism' http://www.orpha.net/ORDO/Orphanet_300530 Pseudohypoaldosteronism type 2E 'Pseudohypoaldosteronism type 2E' SubClassOf 'Pseudohypoaldosteronism type 2' 'Pseudohypoaldosteronism type 2E' SubClassOf 'Pseudohypoaldosteronism type 2' http://www.orpha.net/ORDO/Orphanet_300536 DDOST-CDG 'DDOST-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'DDOST-CDG' SubClassOf 'Disorder of protein N-glycosylation' 'DDOST-CDG' SubClassOf 'Congenital disorder of glycosylation with hepatic involvement' 'DDOST-CDG' SubClassOf 'congenital nervous system disorder' 'DDOST-CDG' SubClassOf 'congenital disorder of glycosylation type I' 'DDOST-CDG' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1692 Mosaic trisomy 1 'Mosaic trisomy 1' SubClassOf 'Total autosomal trisomy' 'Mosaic trisomy 1' SubClassOf 'chromosome 1 disorder' 'Mosaic trisomy 1' SubClassOf 'trisomy' 'Mosaic trisomy 1' SubClassOf 'has modifier' some 'mosaic' 'Mosaic trisomy 1' SubClassOf 'Total autosomal trisomy' http://www.orpha.net/ORDO/Orphanet_1699 Trisomy 12p 'Trisomy 12p' SubClassOf 'Rare genetic neurological disorder' 'Trisomy 12p' SubClassOf 'Partial trisomy/tetrasomy of the short arm of chromosome 12' 'Trisomy 12p' SubClassOf 'epilepsy' 'Trisomy 12p' SubClassOf 'Partial trisomy/tetrasomy of the short arm of chromosome 12' http://www.orpha.net/ORDO/Orphanet_1698 Mosaic trisomy 12 'Mosaic trisomy 12' SubClassOf 'chromosome 12 disorder' 'Mosaic trisomy 12' SubClassOf 'trisomy' 'Mosaic trisomy 12' SubClassOf 'has modifier' some 'mosaic' 'Mosaic trisomy 12' SubClassOf 'Total autosomal trisomy' 'Mosaic trisomy 12' SubClassOf 'Total autosomal trisomy' http://www.orpha.net/ORDO/Orphanet_1695 Non-distal trisomy 10q 'Non-distal trisomy 10q' SubClassOf 'Partial duplication of the long arm of chromosome 10' 'Non-distal trisomy 10q' SubClassOf 'Partial duplication of the long arm of chromosome 10' http://www.orpha.net/ORDO/Orphanet_1620 Distal monosomy 3p 'Distal monosomy 3p' SubClassOf 'Blepharophimosis-intellectual disability syndrome' 'Distal monosomy 3p' SubClassOf 'Partial deletion of the short arm of chromosome 3' 'Distal monosomy 3p' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1621 3q13 microdeletion syndrome '3q13 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 3' '3q13 microdeletion syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1617 2q24 microdeletion syndrome '2q24 microdeletion syndrome' SubClassOf 'disease has major feature' some 'cataract' '2q24 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 2' '2q24 microdeletion syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_33572 5-oxoprolinase deficiency '5-oxoprolinase deficiency' SubClassOf 'Disorder of the gamma-glutamyl cycle' '5-oxoprolinase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1636 Distal monosomy 7q36 'Distal monosomy 7q36' SubClassOf 'Partial deletion of the long arm of chromosome 7' 'Distal monosomy 7q36' SubClassOf 'Partial deletion of the long arm of chromosome 7' http://www.orpha.net/ORDO/Orphanet_289290 Hypermethioninemia encephalopathy due to adenosine kinase deficiency 'Hypermethioninemia encephalopathy due to adenosine kinase deficiency' SubClassOf 'Disorder of methionine cycle and sulfur amino acid metabolism' 'Hypermethioninemia encephalopathy due to adenosine kinase deficiency' SubClassOf 'Neurometabolic disease' 'Hypermethioninemia encephalopathy due to adenosine kinase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_33573 Gamma-glutamyl transpeptidase deficiency 'Gamma-glutamyl transpeptidase deficiency' SubClassOf 'Disorder of the gamma-glutamyl cycle' 'Gamma-glutamyl transpeptidase deficiency' SubClassOf 'Disorder of the gamma-glutamyl cycle' http://www.orpha.net/ORDO/Orphanet_33574 Gamma-glutamylcysteine synthetase deficiency 'Gamma-glutamylcysteine synthetase deficiency' SubClassOf 'inherited glutathione metabolism disease' 'Gamma-glutamylcysteine synthetase deficiency' SubClassOf 'Disorder of the gamma-glutamyl cycle' http://www.orpha.net/ORDO/Orphanet_1627 Distal monosomy 5q 'Distal monosomy 5q' SubClassOf 'Partial deletion of the long arm of chromosome 5' 'Distal monosomy 5q' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_206953 Muscular lipidosis 'Muscular lipidosis' SubClassOf 'Metabolic myopathy' 'Muscular lipidosis' SubClassOf 'Metabolic myopathy' http://www.orpha.net/ORDO/Orphanet_1646 Partial chromosome Y deletion 'Partial chromosome Y deletion' SubClassOf 'syndrome caused by partial chromosomal deletion' 'Partial chromosome Y deletion' SubClassOf 'chromosome Y disorder' 'Partial chromosome Y deletion' SubClassOf 'male infertility' 'Partial chromosome Y deletion' SubClassOf 'Chromosome Y structural anomaly' 'Partial chromosome Y deletion' SubClassOf 'Chromosome Y structural anomaly' http://www.orpha.net/ORDO/Orphanet_206959 Muscular glycogenosis 'Muscular glycogenosis' SubClassOf 'Metabolic myopathy' 'Muscular glycogenosis' SubClassOf 'Metabolic myopathy' http://www.orpha.net/ORDO/Orphanet_1642 Distal monosomy 9p 'Distal monosomy 9p' SubClassOf 'Monosomy 9p' 'Distal monosomy 9p' SubClassOf 'Partial deletion of the short arm of chromosome 9' http://www.orpha.net/ORDO/Orphanet_1643 Xp22.3 microdeletion syndrome 'Xp22.3 microdeletion syndrome' SubClassOf 'Partial monosomy of the short arm of chromosome X' 'Xp22.3 microdeletion syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1657 Dermatoosteolysis, Kirghizian type 'Dermatoosteolysis, Kirghizian type' SubClassOf 'Ectodermal dysplasia syndrome' 'Dermatoosteolysis, Kirghizian type' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_1658 Absence of fingerprints - congenital milia 'Absence of fingerprints - congenital milia' SubClassOf 'genetic skin disease' 'Absence of fingerprints - congenital milia' SubClassOf 'epidermal disease' 'Absence of fingerprints - congenital milia' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_1655 Müllerian derivatives - lymphangiectasia - polydactyly 'Müllerian derivatives - lymphangiectasia - polydactyly' SubClassOf 'Syndromic lymphedema' 'Müllerian derivatives - lymphangiectasia - polydactyly' SubClassOf 'Primary lymphedema' 'Müllerian derivatives - lymphangiectasia - polydactyly' SubClassOf 'Syndromic lymphedema' http://www.orpha.net/ORDO/Orphanet_1653 Dentin dysplasia 'Dentin dysplasia' SubClassOf 'Hereditary dentin defect' 'Dentin dysplasia' SubClassOf 'tooth hard tissue disease' 'Dentin dysplasia' SubClassOf 'Hereditary dentin defect' http://www.orpha.net/ORDO/Orphanet_206966 Mitochondrial myopathy 'Mitochondrial myopathy' SubClassOf 'congenital structural myopathy' 'Mitochondrial myopathy' SubClassOf 'inborn mitochondrial metabolism disorder' 'Mitochondrial myopathy' EquivalentTo 'inborn mitochondrial metabolism disorder' and 'myopathy' http://www.orpha.net/ORDO/Orphanet_1654 Natal teeth - intestinal pseudoobstruction - patent ductus 'Natal teeth - intestinal pseudoobstruction - patent ductus' SubClassOf 'has modifier' some 'rare' 'Natal teeth - intestinal pseudoobstruction - patent ductus' SubClassOf 'disorder of development or morphogenesis' http://www.orpha.net/ORDO/Orphanet_1652 Dent disease 'Dent disease' SubClassOf 'Genetic renal tubular disease' 'Dent disease' SubClassOf 'renal tubular transport disease' 'Dent disease' SubClassOf 'has_disease_location' some ('kidney' or ('part_of' some 'kidney')) 'Dent disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1941 Juvenile absence epilepsy 'Juvenile absence epilepsy' SubClassOf 'predisposes towards' some 'Juvenile absence epilepsy' 'Juvenile absence epilepsy' SubClassOf 'inherited disease susceptibility' 'Juvenile absence epilepsy' SubClassOf 'adolescent/adult-onset epilepsy syndrome' http://www.ebi.ac.uk/efo/EFO_1000465 Penile Carcinoma 'Penile Carcinoma' SubClassOf 'penile cancer' 'Penile Carcinoma' SubClassOf 'carcinoma' 'Penile Carcinoma' SubClassOf 'penile cancer' 'Penile Carcinoma' SubClassOf 'carcinoma' http://www.orpha.net/ORDO/Orphanet_1942 Myoclonic-astastic epilepsy 'Myoclonic-astastic epilepsy' SubClassOf 'Childhood-onset epilepsy syndrome' 'Myoclonic-astastic epilepsy' SubClassOf 'syndromic disease' 'Myoclonic-astastic epilepsy' SubClassOf 'Childhood-onset epilepsy syndrome' http://www.orpha.net/ORDO/Orphanet_1940 Shoulder and thorax deformity - congenital heart disease 'Shoulder and thorax deformity - congenital heart disease' SubClassOf 'congenital limb malformation' 'Shoulder and thorax deformity - congenital heart disease' SubClassOf 'thoracic malformation' 'Shoulder and thorax deformity - congenital heart disease' SubClassOf 'Dysostosis of genetic origin' http://www.orpha.net/ORDO/Orphanet_79147 Familial reactive perforating collagenosis 'Familial reactive perforating collagenosis' SubClassOf 'Genetic dermis elastic tissue disorder' 'Familial reactive perforating collagenosis' SubClassOf 'Genetic dermis elastic tissue disorder' http://www.orpha.net/ORDO/Orphanet_79146 Familial progressive hyperpigmentation 'Familial progressive hyperpigmentation' SubClassOf 'Genetic hyperpigmentation of the skin' 'Familial progressive hyperpigmentation' SubClassOf 'Genetic hyperpigmentation of the skin' http://www.ebi.ac.uk/efo/EFO_1000468 Peritoneal Multicystic Mesothelioma 'Peritoneal Multicystic Mesothelioma' SubClassOf 'Peritoneal Mesothelioma' 'Peritoneal Multicystic Mesothelioma' SubClassOf 'Peritoneal Mesothelioma' http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy 'Early infantile epileptic encephalopathy' SubClassOf 'Channelopathy with epilepsy' 'Early infantile epileptic encephalopathy' SubClassOf 'ARX-related epileptic encephalopathy' 'Early infantile epileptic encephalopathy' SubClassOf 'Neonatal epilepsy syndrome' 'Early infantile epileptic encephalopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79149 Dermochondrocorneal dystrophy 'Dermochondrocorneal dystrophy' SubClassOf 'dermis disorder' 'Dermochondrocorneal dystrophy' SubClassOf 'Genetic dermis disorder' 'Dermochondrocorneal dystrophy' SubClassOf 'genetic skin disease' 'Dermochondrocorneal dystrophy' SubClassOf 'Syndromic corneal dystrophy' 'Dermochondrocorneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019276 'Dermochondrocorneal dystrophy' SubClassOf 'Syndromic corneal dystrophy' http://www.orpha.net/ORDO/Orphanet_1935 Early myoclonic encephalopathy 'Early myoclonic encephalopathy' SubClassOf 'neonatal period electroclinical syndrome' 'Early myoclonic encephalopathy' SubClassOf 'Mitochondrial substrate carrier disorder' 'Early myoclonic encephalopathy' SubClassOf 'neonatal/infantile epilepsy syndrome' 'Early myoclonic encephalopathy' SubClassOf 'Mitochondrial substrate carrier disorder' http://www.orpha.net/ORDO/Orphanet_79143 Congenital anonychia 'Congenital anonychia' SubClassOf 'Isolated nail anomaly' 'Congenital anonychia' SubClassOf 'Isolated nail anomaly' http://www.orpha.net/ORDO/Orphanet_79142 Familial Dupuytren contracture 'Familial Dupuytren contracture' SubClassOf 'hereditary disorder of connective tissue' 'Familial Dupuytren contracture' SubClassOf 'Genetic soft tissue tumor' 'Familial Dupuytren contracture' SubClassOf 'genetic skin disease' 'Familial Dupuytren contracture' SubClassOf 'skin neoplasm' 'Familial Dupuytren contracture' SubClassOf 'Superficial Fibromatosis' http://www.orpha.net/ORDO/Orphanet_157801 Mesoaxial synostotic syndactyly with phalangeal reduction 'Mesoaxial synostotic syndactyly with phalangeal reduction' SubClassOf 'Syndactyly' 'Mesoaxial synostotic syndactyly with phalangeal reduction' SubClassOf 'Syndactyly' http://www.orpha.net/ORDO/Orphanet_79145 Dowling-Degos disease 'Dowling-Degos disease' SubClassOf 'has modifier' some 'rare' 'Dowling-Degos disease' SubClassOf 'Genetic hyperpigmentation of the skin' 'Dowling-Degos disease' SubClassOf 'Congenital disorder of glycosylation with skin involvement' 'Dowling-Degos disease' SubClassOf 'reticulate pigment disorder' 'Dowling-Degos disease' SubClassOf 'Disorder of fucoglycosan synthesis' 'Dowling-Degos disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79144 Congenital onychodysplasia 'Congenital onychodysplasia' SubClassOf 'has modifier' some 'congenital' 'Congenital onychodysplasia' SubClassOf 'Isolated nail anomaly' 'Congenital onychodysplasia' SubClassOf 'Isolated nail anomaly' http://www.orpha.net/ORDO/Orphanet_79141 Hereditary painful callosities 'Hereditary painful callosities' SubClassOf 'Isolated focal palmoplantar keratoderma' 'Hereditary painful callosities' SubClassOf 'Isolated focal palmoplantar keratoderma' http://www.orpha.net/ORDO/Orphanet_363700 Neurofibromatosis type 1 due to NF1mutation or intragenic deletion 'Neurofibromatosis type 1 due to NF1mutation or intragenic deletion' SubClassOf 'Neurofibromatosis type 1' 'Neurofibromatosis type 1 due to NF1mutation or intragenic deletion' SubClassOf 'Neurofibromatosis type 1' http://www.orpha.net/ORDO/Orphanet_1954 Congenital lethal erythroderma 'Congenital lethal erythroderma' SubClassOf 'genetic skin disease' 'Congenital lethal erythroderma' SubClassOf 'skin disease' http://www.orpha.net/ORDO/Orphanet_1955 Spinocerebellar ataxia type 34 'Spinocerebellar ataxia type 34' SubClassOf 'genetic skin disease' 'Spinocerebellar ataxia type 34' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 34' SubClassOf 'erythrokeratoderma' 'Spinocerebellar ataxia type 34' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' http://www.orpha.net/ORDO/Orphanet_1952 Pacman dysplasia 'Pacman dysplasia' SubClassOf 'Primary osteolysis' 'Pacman dysplasia' SubClassOf 'Primary osteolysis' http://www.ebi.ac.uk/efo/EFO_1000473 Phosphaturic Mesenchymal Tumor 'Phosphaturic Mesenchymal Tumor' SubClassOf 'neoplasm' 'Phosphaturic Mesenchymal Tumor' SubClassOf 'neoplasm' http://www.orpha.net/ORDO/Orphanet_1951 Epilepsy telangiectasia 'Epilepsy telangiectasia' SubClassOf 'Epilepsy syndrome' 'Epilepsy telangiectasia' SubClassOf 'congenital nervous system disorder' 'Epilepsy telangiectasia' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Epilepsy telangiectasia' SubClassOf 'syndromic intellectual disability' 'Epilepsy telangiectasia' SubClassOf 'Epilepsy syndrome' 'Epilepsy telangiectasia' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.ebi.ac.uk/efo/EFO_1000472 Pharyngeal Adenoid Cystic Carcinoma 'Pharyngeal Adenoid Cystic Carcinoma' SubClassOf 'adenoid cystic carcinoma' 'Pharyngeal Adenoid Cystic Carcinoma' SubClassOf 'adenoid cystic carcinoma' http://www.orpha.net/ORDO/Orphanet_1949 Benign familial neonatal seizures 'Benign familial neonatal seizures' SubClassOf 'neonatal period electroclinical syndrome' 'Benign familial neonatal seizures' SubClassOf 'Neonatal epilepsy syndrome' 'Benign familial neonatal seizures' SubClassOf 'Neonatal epilepsy syndrome' http://www.orpha.net/ORDO/Orphanet_1947 Progressive epilepsy - intellectual disability, Finnish type 'Progressive epilepsy - intellectual disability, Finnish type' SubClassOf 'Rare syndromic dyslipidemia' 'Progressive epilepsy - intellectual disability, Finnish type' SubClassOf 'Monogenic disease with epilepsy' 'Progressive epilepsy - intellectual disability, Finnish type' SubClassOf 'CLN8 disease' 'Progressive epilepsy - intellectual disability, Finnish type' SubClassOf 'Progressive myoclonic epilepsy' 'Progressive epilepsy - intellectual disability, Finnish type' SubClassOf 'Monogenic disease with epilepsy' 'Progressive epilepsy - intellectual disability, Finnish type' SubClassOf 'Neuronal ceroid lipofuscinosis' http://www.orpha.net/ORDO/Orphanet_79136 Episodic ataxia type 4 'Episodic ataxia type 4' SubClassOf 'Hereditary episodic ataxia' 'Episodic ataxia type 4' SubClassOf 'Hereditary episodic ataxia' http://www.orpha.net/ORDO/Orphanet_1948 Epilepsy - microcephaly - skeletal dysplasia 'Epilepsy - microcephaly - skeletal dysplasia' SubClassOf 'syndromic intellectual disability' 'Epilepsy - microcephaly - skeletal dysplasia' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Epilepsy - microcephaly - skeletal dysplasia' SubClassOf 'congenital nervous system disorder' 'Epilepsy - microcephaly - skeletal dysplasia' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_79135 Episodic ataxia type 3 'Episodic ataxia type 3' SubClassOf 'Hereditary episodic ataxia' 'Episodic ataxia type 3' SubClassOf 'Hereditary episodic ataxia' http://www.ebi.ac.uk/efo/EFO_1000479 Placental Choriocarcinoma 'Placental Choriocarcinoma' SubClassOf 'Gestational trophoblastic neoplasm' http://www.orpha.net/ORDO/Orphanet_1945 Rolandic epilepsy 'Rolandic epilepsy' SubClassOf 'childhood electroclinical syndrome' 'Rolandic epilepsy' SubClassOf 'Familial partial epilepsy' 'Rolandic epilepsy' SubClassOf 'Familial partial epilepsy' http://www.orpha.net/ORDO/Orphanet_1946 Amelo-cerebro-hypohidrotic syndrome 'Amelo-cerebro-hypohidrotic syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Amelo-cerebro-hypohidrotic syndrome' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_79137 Generalized epilepsy - paroxysmal dyskinesia 'Generalized epilepsy - paroxysmal dyskinesia' SubClassOf 'Familial partial epilepsy' 'Generalized epilepsy - paroxysmal dyskinesia' SubClassOf 'Familial partial epilepsy' http://www.orpha.net/ORDO/Orphanet_79132 Sparse hair - short stature - skin anomalies 'Sparse hair - short stature - skin anomalies' SubClassOf 'Ectodermal dysplasia syndrome' 'Sparse hair - short stature - skin anomalies' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_79134 DEND syndrome 'DEND syndrome' SubClassOf 'permanent neonatal diabetes mellitus' 'DEND syndrome' SubClassOf 'Epilepsy syndrome' 'DEND syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79133 Focal facial dermal dysplasia type I 'Focal facial dermal dysplasia type I' SubClassOf 'Focal facial dermal dysplasia' 'Focal facial dermal dysplasia type I' SubClassOf 'Focal facial dermal dysplasia' http://www.orpha.net/ORDO/Orphanet_363710 Spinocerebellar ataxia type 37 'Spinocerebellar ataxia type 37' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 37' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' http://www.ebi.ac.uk/efo/EFO_1000481 Plantar Fibromatosis 'Plantar Fibromatosis' SubClassOf 'Superficial Fibromatosis' 'Plantar Fibromatosis' SubClassOf 'Superficial Fibromatosis' http://www.orpha.net/ORDO/Orphanet_169802 Severe hemophilia A 'Severe hemophilia A' SubClassOf 'Hemophilia A' 'Severe hemophilia A' SubClassOf 'Hemophilia A' http://www.ebi.ac.uk/efo/EFO_1000484 Pleural Epithelioid Mesothelioma 'Pleural Epithelioid Mesothelioma' SubClassOf 'malignant epithelioid mesothelioma' 'Pleural Epithelioid Mesothelioma' SubClassOf 'malignant epithelioid mesothelioma' http://www.orpha.net/ORDO/Orphanet_1962 Exostoses - anetodermia - brachydactyly type E 'Exostoses - anetodermia - brachydactyly type E' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_1000483 Pleural Biphasic Mesothelioma 'Pleural Biphasic Mesothelioma' SubClassOf 'Biphasic Mesothelioma' 'Pleural Biphasic Mesothelioma' SubClassOf 'Biphasic Mesothelioma' http://www.orpha.net/ORDO/Orphanet_79129 Trichodysplasia - amelogenesis imperfecta 'Trichodysplasia - amelogenesis imperfecta' SubClassOf 'Ectodermal dysplasia syndrome' 'Trichodysplasia - amelogenesis imperfecta' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_79124 Hepatic veno-occlusive disease - immunodeficiency 'Hepatic veno-occlusive disease - immunodeficiency' SubClassOf 'Other immunodeficiency syndrome due to defects in adaptive immunity' 'Hepatic veno-occlusive disease - immunodeficiency' SubClassOf 'hepatic veno-occlusive disease' 'Hepatic veno-occlusive disease - immunodeficiency' SubClassOf 'immunodeficiency disease' http://www.orpha.net/ORDO/Orphanet_1956 Erythromelalgia 'Erythromelalgia' SubClassOf 'neurovascular disorder' 'Erythromelalgia' SubClassOf 'peripheral vascular disease' 'Erythromelalgia' SubClassOf 'Autosomal dominant hereditary sensory and autonomic neuropathy' 'Erythromelalgia' SubClassOf 'Autosomal dominant hereditary sensory and autonomic neuropathy' http://www.orpha.net/ORDO/Orphanet_157820 Cold-induced sweating syndrome 'Cold-induced sweating syndrome' SubClassOf 'Cold-induced sweating syndrome-hyperthermia spectrum' 'Cold-induced sweating syndrome' SubClassOf 'Cold-induced sweating syndrome-hyperthermia spectrum' http://www.orpha.net/ORDO/Orphanet_363705 Craniofaciofrontodigital syndrome 'Craniofaciofrontodigital syndrome' SubClassOf 'inherited cutis laxa' 'Craniofaciofrontodigital syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Craniofaciofrontodigital syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_157808 Congenital pseudoarthrosis of the limbs 'Congenital pseudoarthrosis of the limbs' SubClassOf 'Non-syndromic limb malformation' 'Congenital pseudoarthrosis of the limbs' SubClassOf 'Dysostosis of genetic origin' 'Congenital pseudoarthrosis of the limbs' SubClassOf 'Non-syndromic limb malformation' http://www.orpha.net/ORDO/Orphanet_363722 Alexander disease type II 'Alexander disease type II' SubClassOf 'Alexander disease' 'Alexander disease type II' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/HP_0009049 Peroneal muscle atrophy 'Peroneal muscle atrophy' SubClassOf 'Abnormality of muscle size' 'Peroneal muscle atrophy' SubClassOf http://purl.obolibrary.org/obo/HP_0003202 http://www.ebi.ac.uk/efo/EFO_1000499 Prostate Small Cell Carcinoma 'Prostate Small Cell Carcinoma' SubClassOf 'prostate carcinoma' 'Prostate Small Cell Carcinoma' SubClassOf 'small cell carcinoma' 'Prostate Small Cell Carcinoma' SubClassOf 'prostate carcinoma' 'Prostate Small Cell Carcinoma' SubClassOf 'small cell carcinoma' http://www.ebi.ac.uk/efo/EFO_1000497 Prolactin-Producing Pituitary Gland Carcinoma 'Prolactin-Producing Pituitary Gland Carcinoma' SubClassOf 'pituitary adenocarcinoma' 'Prolactin-Producing Pituitary Gland Carcinoma' SubClassOf 'prolactin producing pituitary tumor' 'Prolactin-Producing Pituitary Gland Carcinoma' SubClassOf 'pituitary adenocarcinoma' 'Prolactin-Producing Pituitary Gland Carcinoma' SubClassOf 'prolactin producing pituitary tumor' http://www.orpha.net/ORDO/Orphanet_1974 Autosomal recessive facio-digito-genital syndrome 'Autosomal recessive facio-digito-genital syndrome' SubClassOf 'faciodigitogenital syndrome' 'Autosomal recessive facio-digito-genital syndrome' SubClassOf 'autosomal recessive disease' 'Autosomal recessive facio-digito-genital syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Autosomal recessive facio-digito-genital syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'Autosomal recessive facio-digito-genital syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_1972 Lethal faciocardiomelic dysplasia 'Lethal faciocardiomelic dysplasia' SubClassOf 'congenital limb malformation' 'Lethal faciocardiomelic dysplasia' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Lethal faciocardiomelic dysplasia' SubClassOf 'Dysostosis of genetic origin' http://www.ebi.ac.uk/efo/EFO_1000496 Prolactin-Producing Pituitary Gland Adenoma 'Prolactin-Producing Pituitary Gland Adenoma' SubClassOf 'Genetic infertility' 'Prolactin-Producing Pituitary Gland Adenoma' SubClassOf 'familial isolated pituitary adenoma' 'Prolactin-Producing Pituitary Gland Adenoma' SubClassOf 'familial isolated pituitary adenoma' 'Prolactin-Producing Pituitary Gland Adenoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017143 http://www.orpha.net/ORDO/Orphanet_1973 Faciocardiorenal syndrome 'Faciocardiorenal syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Faciocardiorenal syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Faciocardiorenal syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Faciocardiorenal syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_1970 Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation 'Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation' SubClassOf 'syndromic intellectual disability' 'Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation' SubClassOf 'central nervous system malformation' 'Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation' SubClassOf 'congenital nervous system disorder' 'Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.ebi.ac.uk/efo/EFO_1000494 Primary Peritoneal Serous Adenocarcinoma 'Primary Peritoneal Serous Adenocarcinoma' SubClassOf 'serous adenocarcinoma' 'Primary Peritoneal Serous Adenocarcinoma' SubClassOf 'serous adenocarcinoma' http://www.orpha.net/ORDO/Orphanet_79118 Neonatal diabetes - congenital hypothyroidism - congenital glaucoma - hepatic fibrosis - polycystic kidneys 'Neonatal diabetes - congenital hypothyroidism - congenital glaucoma - hepatic fibrosis - polycystic kidneys' SubClassOf 'perinatal disease' 'Neonatal diabetes - congenital hypothyroidism - congenital glaucoma - hepatic fibrosis - polycystic kidneys' SubClassOf 'Familial cystic renal disease' 'Neonatal diabetes - congenital hypothyroidism - congenital glaucoma - hepatic fibrosis - polycystic kidneys' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79113 Mandibulofacial dysostosis-microcephaly syndrome 'Mandibulofacial dysostosis-microcephaly syndrome' SubClassOf 'Acrofacial dysostosis' 'Mandibulofacial dysostosis-microcephaly syndrome' SubClassOf 'congenital nervous system disorder' 'Mandibulofacial dysostosis-microcephaly syndrome' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Mandibulofacial dysostosis-microcephaly syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Mandibulofacial dysostosis-microcephaly syndrome' SubClassOf 'Orofacial clefting syndrome' 'Mandibulofacial dysostosis-microcephaly syndrome' SubClassOf 'syndromic intellectual disability' 'Mandibulofacial dysostosis-microcephaly syndrome' SubClassOf 'intellectual disability, autosomal dominant' 'Mandibulofacial dysostosis-microcephaly syndrome' SubClassOf 'Acrofacial dysostosis' 'Mandibulofacial dysostosis-microcephaly syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Mandibulofacial dysostosis-microcephaly syndrome' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Mandibulofacial dysostosis-microcephaly syndrome' SubClassOf 'Orofacial clefting syndrome' http://www.orpha.net/ORDO/Orphanet_363717 Alexander disease type I 'Alexander disease type I' SubClassOf 'Alexander disease' 'Alexander disease type I' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_314721 Atypical dentin dysplasia due to SMOC2 deficiency 'Atypical dentin dysplasia due to SMOC2 deficiency' SubClassOf 'Dentin dysplasia type I' 'Atypical dentin dysplasia due to SMOC2 deficiency' SubClassOf 'Dentin dysplasia' http://www.orpha.net/ORDO/Orphanet_79181 Disorder of histidine metabolism 'Disorder of histidine metabolism' SubClassOf 'histidine metabolism disease' 'Disorder of histidine metabolism' SubClassOf 'inherited amino acid metabolic disorder' 'Disorder of histidine metabolism' SubClassOf 'Disorder of amino acid and other organic acid metabolism' http://www.orpha.net/ORDO/Orphanet_1900 Ehlers-Danlos syndrome, kyphoscoliotic type 'Ehlers-Danlos syndrome, kyphoscoliotic type' SubClassOf 'kyphoscoliotic Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, kyphoscoliotic type' SubClassOf 'autosomal recessive disease' 'Ehlers-Danlos syndrome, kyphoscoliotic type' SubClassOf 'has modifier' some 'rare' 'Ehlers-Danlos syndrome, kyphoscoliotic type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020066 http://www.orpha.net/ORDO/Orphanet_79187 Disorder of peptide metabolism 'Disorder of peptide metabolism' SubClassOf 'Disorder of amino acid and other organic acid metabolism' 'Disorder of peptide metabolism' SubClassOf 'Disorder of amino acid and other organic acid metabolism' http://www.orpha.net/ORDO/Orphanet_79186 Disorder of pentose phosphate metabolism 'Disorder of pentose phosphate metabolism' SubClassOf 'disorders of pentose/polyol metabolism' 'Disorder of pentose phosphate metabolism' SubClassOf 'Disorder of carbohydrate metabolism' http://www.orpha.net/ORDO/Orphanet_79189 Peroxisome biogenesis disorder-Zellweger syndrome spectrum 'Peroxisome biogenesis disorder-Zellweger syndrome spectrum' SubClassOf 'Genetic peripheral neuropathy' 'Peroxisome biogenesis disorder-Zellweger syndrome spectrum' SubClassOf 'Leukodystrophy' 'Peroxisome biogenesis disorder-Zellweger syndrome spectrum' SubClassOf 'autosomal recessive disease' 'Peroxisome biogenesis disorder-Zellweger syndrome spectrum' SubClassOf 'Peroxisomal disease' 'Peroxisome biogenesis disorder-Zellweger syndrome spectrum' SubClassOf 'Neurometabolic disease' 'Peroxisome biogenesis disorder-Zellweger syndrome spectrum' SubClassOf 'syndromic disease' 'Peroxisome biogenesis disorder-Zellweger syndrome spectrum' SubClassOf 'Leukodystrophy' 'Peroxisome biogenesis disorder-Zellweger syndrome spectrum' SubClassOf 'Peroxisomal disease' 'Peroxisome biogenesis disorder-Zellweger syndrome spectrum' SubClassOf 'Neurometabolic disease' http://www.orpha.net/ORDO/Orphanet_79188 Peroxisomal beta-oxidation disorder 'Peroxisomal beta-oxidation disorder' SubClassOf 'Disorder of peroxisomal alpha-, beta- and omega-oxidation' 'Peroxisomal beta-oxidation disorder' SubClassOf 'peroxisomal single enzyme/protein defect' 'Peroxisomal beta-oxidation disorder' SubClassOf 'Peroxisomal disease' http://www.orpha.net/ORDO/Orphanet_79183 Disorder of ketone body metabolism 'Disorder of ketone body metabolism' SubClassOf 'Disorder of fatty acid oxidation and ketone body metabolism' 'Disorder of ketone body metabolism' SubClassOf 'Disorder of fatty acid oxidation and ketone body metabolism' http://www.orpha.net/ORDO/Orphanet_79185 Disorder of ornithine or proline metabolism 'Disorder of ornithine or proline metabolism' SubClassOf 'Disorder of amino acid and other organic acid metabolism' 'Disorder of ornithine or proline metabolism' SubClassOf 'Disorder of amino acid and other organic acid metabolism' http://www.orpha.net/ORDO/Orphanet_363727 X-linked dyserythropoetic anemia with abnormal platelets and neutropenia 'X-linked dyserythropoetic anemia with abnormal platelets and neutropenia' SubClassOf 'Congenital dyserythropoietic anemia' 'X-linked dyserythropoetic anemia with abnormal platelets and neutropenia' SubClassOf 'GATA1-Related X-Linked Cytopenia' 'X-linked dyserythropoetic anemia with abnormal platelets and neutropenia' SubClassOf 'Inherited giant platelet disorder' 'X-linked dyserythropoetic anemia with abnormal platelets and neutropenia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome 'Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome' SubClassOf 'Syndromic obesity' 'Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome' SubClassOf 'Syndromic microphthalmia' 'Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome' SubClassOf 'Syndromic obesity' 'Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome' SubClassOf 'Syndromic microphthalmia' http://www.orpha.net/ORDO/Orphanet_79179 Disorder of glycerol metabolism 'Disorder of glycerol metabolism' SubClassOf 'Disorder of carbohydrate metabolism' 'Disorder of glycerol metabolism' SubClassOf 'glycerol metabolism disease' 'Disorder of glycerol metabolism' SubClassOf 'Disorder of carbohydrate metabolism' http://www.orpha.net/ORDO/Orphanet_1901 Ehlers-Danlos syndrome, dermatosparaxis type 'Ehlers-Danlos syndrome, dermatosparaxis type' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, dermatosparaxis type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79175 Disorder of gamma-aminobutyric acid metabolism 'Disorder of gamma-aminobutyric acid metabolism' SubClassOf 'Disorder of biogenic amine metabolism and transport' 'Disorder of gamma-aminobutyric acid metabolism' SubClassOf 'inherited amino acid metabolic disorder' 'Disorder of gamma-aminobutyric acid metabolism' SubClassOf 'Disorder of biogenic amine metabolism and transport' http://www.orpha.net/ORDO/Orphanet_79178 Glucose transport disorder 'Glucose transport disorder' SubClassOf 'Disorder of carbohydrate absorption and transport' 'Glucose transport disorder' SubClassOf 'carbohydrate transport disease' 'Glucose transport disorder' SubClassOf 'Disorder of carbohydrate absorption and transport' http://www.orpha.net/ORDO/Orphanet_79177 Gluconeogenesis disorder 'Gluconeogenesis disorder' SubClassOf 'glucose metabolism disease' 'Gluconeogenesis disorder' SubClassOf 'Disorder of carbohydrate metabolism' 'Gluconeogenesis disorder' SubClassOf 'Disorder of carbohydrate metabolism' http://www.orpha.net/ORDO/Orphanet_79172 Disorder of creatine biosynthesis 'Disorder of creatine biosynthesis' SubClassOf 'Disorder of energy metabolism' 'Disorder of creatine biosynthesis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79171 Disorder of cobalamin metabolism and transport 'Disorder of cobalamin metabolism and transport' SubClassOf 'Disorder of vitamin and non-protein cofactor absorption and transport ' 'Disorder of cobalamin metabolism and transport' SubClassOf 'Disorder of vitamin and non-protein cofactor absorption and transport ' http://www.orpha.net/ORDO/Orphanet_79174 Disorder of fatty acid oxidation and ketone body metabolism 'Disorder of fatty acid oxidation and ketone body metabolism' SubClassOf 'Disorder of energy metabolism' 'Disorder of fatty acid oxidation and ketone body metabolism' SubClassOf 'Disorder of energy metabolism' http://www.orpha.net/ORDO/Orphanet_79173 Disorder of methionine cycle and sulfur amino acid metabolism 'Disorder of methionine cycle and sulfur amino acid metabolism' SubClassOf 'Organic aciduria' 'Disorder of methionine cycle and sulfur amino acid metabolism' SubClassOf 'sulfur metabolism disease' 'Disorder of methionine cycle and sulfur amino acid metabolism' SubClassOf 'Disorder of amino acid and other organic acid metabolism' http://www.orpha.net/ORDO/Orphanet_314701 Primary systemic amyloidosis 'Primary systemic amyloidosis' SubClassOf 'AL amyloidosis' 'Primary systemic amyloidosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019438 http://www.orpha.net/ORDO/Orphanet_79169 Disorder of neurotransmitter metabolism and transport 'Disorder of neurotransmitter metabolism and transport' SubClassOf 'Disorder of biogenic amine metabolism and transport' 'Disorder of neurotransmitter metabolism and transport' SubClassOf 'Disorder of biogenic amine metabolism and transport' http://www.orpha.net/ORDO/Orphanet_79168 Disorder of bile acid synthesis 'Disorder of bile acid synthesis' SubClassOf 'Organic aciduria' 'Disorder of bile acid synthesis' SubClassOf 'Sterol metabolism disorder' 'Disorder of bile acid synthesis' SubClassOf 'Sterol metabolism disorder' http://www.orpha.net/ORDO/Orphanet_79166 Disorder of amino acid absorption and transport 'Disorder of amino acid absorption and transport' SubClassOf 'Disorder of amino acid and other organic acid metabolism' 'Disorder of amino acid absorption and transport' SubClassOf 'Disorder of amino acid and other organic acid metabolism' http://www.orpha.net/ORDO/Orphanet_79161 Disorder of carbohydrate metabolism 'Disorder of carbohydrate metabolism' SubClassOf 'Inborn errors of metabolism' 'Disorder of carbohydrate metabolism' SubClassOf 'carbohydrate metabolism disease' 'Disorder of carbohydrate metabolism' SubClassOf 'Inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_79163 Classic organic aciduria 'Classic organic aciduria' SubClassOf 'Organic aciduria' 'Classic organic aciduria' SubClassOf 'Organic aciduria' http://purl.obolibrary.org/obo/MONDO_0008710 RAB23-related Carpenter syndrome 'RAB23-related Carpenter syndrome' SubClassOf 'Carpenter syndrome' 'RAB23-related Carpenter syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019012 http://www.orpha.net/ORDO/Orphanet_314718 Lethal arteriopathy syndrome due to fibulin-4 deficiency 'Lethal arteriopathy syndrome due to fibulin-4 deficiency' SubClassOf 'has modifier' some 'rare' 'Lethal arteriopathy syndrome due to fibulin-4 deficiency' SubClassOf 'vascular disease' http://www.orpha.net/ORDO/Orphanet_1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria' SubClassOf 'Mitochondrial DNA depletion syndrome, encephalomyopathic form' 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria' SubClassOf 'syndromic disease' 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria' SubClassOf 'Mitochondrial DNA depletion syndrome, encephalomyopathic form' http://www.orpha.net/ORDO/Orphanet_1930 Herpetic encephalitis 'Herpetic encephalitis' SubClassOf 'Rare genetic neurological disorder' 'Herpetic encephalitis' SubClassOf 'viral encephalitis' 'Herpetic encephalitis' SubClassOf 'Herpes simplex infection' 'Herpetic encephalitis' SubClassOf 'Genetic susceptibility to infections due to particular pathogens' 'Herpetic encephalitis' SubClassOf 'Genetic susceptibility to infections due to particular pathogens' http://www.orpha.net/ORDO/Orphanet_1931 Frontal encephalocele 'Frontal encephalocele' SubClassOf 'Isolated encephalocele' 'Frontal encephalocele' SubClassOf 'Isolated encephalocele' http://www.orpha.net/ORDO/Orphanet_1927 Emery-Nelson syndrome 'Emery-Nelson syndrome' SubClassOf 'congenital limb malformation' 'Emery-Nelson syndrome' SubClassOf 'Genetic syndrome with limb malformations as a major feature' 'Emery-Nelson syndrome' SubClassOf 'has modifier' some 'rare' 'Emery-Nelson syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1928 Congenital lobar emphysema 'Congenital lobar emphysema' SubClassOf 'emphysema' 'Congenital lobar emphysema' SubClassOf 'Genetic respiratory malformation' 'Congenital lobar emphysema' SubClassOf 'Genetic respiratory or mediastinal malformation' 'Congenital lobar emphysema' SubClassOf 'Genetic respiratory malformation' http://www.orpha.net/ORDO/Orphanet_79158 Cerebral organic aciduria 'Cerebral organic aciduria' SubClassOf 'brain disease' 'Cerebral organic aciduria' SubClassOf 'Organic aciduria' 'Cerebral organic aciduria' SubClassOf 'Rare genetic neurological disorder' 'Cerebral organic aciduria' SubClassOf 'Organic aciduria' http://www.orpha.net/ORDO/Orphanet_79157 2-methylbutyryl-CoA dehydrogenase deficiency '2-methylbutyryl-CoA dehydrogenase deficiency' SubClassOf 'Cerebral organic aciduria' '2-methylbutyryl-CoA dehydrogenase deficiency' SubClassOf 'Neurometabolic disease' '2-methylbutyryl-CoA dehydrogenase deficiency' SubClassOf 'Classic organic aciduria' '2-methylbutyryl-CoA dehydrogenase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_314709 Primary localized amyloidosis 'Primary localized amyloidosis' SubClassOf 'AL amyloidosis' 'Primary localized amyloidosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019438 http://www.orpha.net/ORDO/Orphanet_79159 Isobutyryl-CoA dehydrogenase deficiency 'Isobutyryl-CoA dehydrogenase deficiency' SubClassOf 'Classic organic aciduria' 'Isobutyryl-CoA dehydrogenase deficiency' SubClassOf 'Classic organic aciduria' http://www.orpha.net/ORDO/Orphanet_79154 2-aminoadipic 2-oxoadipic aciduria '2-aminoadipic 2-oxoadipic aciduria' SubClassOf 'Disorder of lysine and hydroxylysine metabolism' '2-aminoadipic 2-oxoadipic aciduria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79153 Autosomal dominant nail dysplasia 'Autosomal dominant nail dysplasia' SubClassOf 'has modifier' some 'congenital' 'Autosomal dominant nail dysplasia' SubClassOf 'Isolated nail anomaly' 'Autosomal dominant nail dysplasia' SubClassOf 'Isolated nail anomaly' http://www.orpha.net/ORDO/Orphanet_79156 Seizures - intellectual disability due to hydroxylysinuria 'Seizures - intellectual disability due to hydroxylysinuria' SubClassOf 'Disorder of lysine and hydroxylysine metabolism' 'Seizures - intellectual disability due to hydroxylysinuria' SubClassOf 'Disorder of lysine and hydroxylysine metabolism' http://www.orpha.net/ORDO/Orphanet_79155 Encephalopathy due to hydroxykynureninuria 'Encephalopathy due to hydroxykynureninuria' SubClassOf 'Disorder of tryptophan metabolism' 'Encephalopathy due to hydroxykynureninuria' SubClassOf 'Cerebral organic aciduria' 'Encephalopathy due to hydroxykynureninuria' SubClassOf 'Neurometabolic disease' 'Encephalopathy due to hydroxykynureninuria' SubClassOf 'Disorder of tryptophan metabolism' 'Encephalopathy due to hydroxykynureninuria' SubClassOf 'Neurometabolic disease' http://www.orpha.net/ORDO/Orphanet_79150 Linear and whorled nevoid hypermelanosis 'Linear and whorled nevoid hypermelanosis' SubClassOf 'Becker nevus syndrome' 'Linear and whorled nevoid hypermelanosis' SubClassOf 'hamartoma' 'Linear and whorled nevoid hypermelanosis' SubClassOf 'Genetic hyperpigmentation of the skin' 'Linear and whorled nevoid hypermelanosis' SubClassOf 'Genetic hyperpigmentation of the skin' http://www.orpha.net/ORDO/Orphanet_79152 Disseminated superficial actinic porokeratosis 'Disseminated superficial actinic porokeratosis' SubClassOf 'has modifier' some 'disseminated' 'Disseminated superficial actinic porokeratosis' SubClassOf 'porokeratosis' http://www.orpha.net/ORDO/Orphanet_79151 Acrokeratosis verruciformis of Hopf 'Acrokeratosis verruciformis of Hopf' SubClassOf 'Genetic acrokeratoderma' 'Acrokeratosis verruciformis of Hopf' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_251028 2q33.1 microdeletion syndrome '2q33.1 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 2' '2q33.1 microdeletion syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_251019 2q32q33 microdeletion syndrome '2q32q33 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 2' '2q32q33 microdeletion syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0008734 adrenocortical carcinoma, hereditary 'adrenocortical carcinoma, hereditary' SubClassOf 'adrenal cortex carcinoma' 'adrenocortical carcinoma, hereditary' SubClassOf 'adrenal cortex carcinoma' http://www.orpha.net/ORDO/Orphanet_251038 3q29 microduplication '3q29 microduplication' SubClassOf 'Partial duplication of the long arm of chromosome 3' '3q29 microduplication' SubClassOf 'Partial duplication of the long arm of chromosome 3' http://www.orpha.net/ORDO/Orphanet_263004 Partial duplication of the long arm of chromosome 22 'Partial duplication of the long arm of chromosome 22' SubClassOf 'Partial autosomal trisomy/tetrasomy' 'Partial duplication of the long arm of chromosome 22' SubClassOf 'syndrome caused by partial chromosomal duplication' 'Partial duplication of the long arm of chromosome 22' SubClassOf 'Partial autosomal trisomy/tetrasomy' http://www.orpha.net/ORDO/Orphanet_251004 Paternal uniparental disomy of chromosome 1 'Paternal uniparental disomy of chromosome 1' SubClassOf 'Uniparental disomy of paternal origin' 'Paternal uniparental disomy of chromosome 1' SubClassOf 'uniparental disomy' 'Paternal uniparental disomy of chromosome 1' SubClassOf 'chromosome 1 disorder' 'Paternal uniparental disomy of chromosome 1' SubClassOf 'Uniparental disomy of paternal origin' http://www.ebi.ac.uk/efo/EFO_1000404 Ocular Melanoma with Extraocular Extension 'Ocular Melanoma with Extraocular Extension' SubClassOf 'Ocular Melanoma' 'Ocular Melanoma with Extraocular Extension' SubClassOf 'Ocular Melanoma' http://www.ebi.ac.uk/efo/EFO_1000405 Ocular Sebaceous Carcinoma 'Ocular Sebaceous Carcinoma' SubClassOf 'sebaceous adenocarcinoma' 'Ocular Sebaceous Carcinoma' SubClassOf 'sebaceous adenocarcinoma' http://www.orpha.net/ORDO/Orphanet_79190 Disorder of phenylalanin or tyrosine metabolism 'Disorder of phenylalanin or tyrosine metabolism' SubClassOf 'Disorder of amino acid and other organic acid metabolism' 'Disorder of phenylalanin or tyrosine metabolism' SubClassOf 'Disorder of amino acid and other organic acid metabolism' http://www.orpha.net/ORDO/Orphanet_79192 Disorder of pyridoxine metabolism 'Disorder of pyridoxine metabolism' SubClassOf 'Disorder of biogenic amine metabolism and transport' 'Disorder of pyridoxine metabolism' SubClassOf 'vitamin metabolic disorder' 'Disorder of pyridoxine metabolism' SubClassOf 'Disorder of biogenic amine metabolism and transport' http://www.orpha.net/ORDO/Orphanet_79191 Disorder of purine metabolism 'Disorder of purine metabolism' SubClassOf 'Disorder of purine or pyrimidine metabolism' 'Disorder of purine metabolism' SubClassOf 'purine metabolism disease' 'Disorder of purine metabolism' SubClassOf 'Disorder of purine or pyrimidine metabolism' http://www.orpha.net/ORDO/Orphanet_251014 2q31.1 microdeletion syndrome '2q31.1 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 2' '2q31.1 microdeletion syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000412 Ovarian Carcinosarcoma 'Ovarian Carcinosarcoma' SubClassOf 'carcinosarcoma' 'Ovarian Carcinosarcoma' SubClassOf 'carcinosarcoma' http://www.ebi.ac.uk/efo/EFO_1000419 Ovarian Germ Cell Tumor 'Ovarian Germ Cell Tumor' SubClassOf 'germ cell tumor' 'Ovarian Germ Cell Tumor' SubClassOf 'germ cell tumor' http://www.ebi.ac.uk/efo/EFO_1000417 Ovarian Endometrioid Adenocarcinoma with Squamous Differentiation 'Ovarian Endometrioid Adenocarcinoma with Squamous Differentiation' SubClassOf 'Ovarian Endometrioid Adenocarcinoma' 'Ovarian Endometrioid Adenocarcinoma with Squamous Differentiation' SubClassOf 'Ovarian Endometrioid Adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1000418 Ovarian Endometriosis 'Ovarian Endometriosis' SubClassOf 'endometriosis' 'Ovarian Endometriosis' SubClassOf 'endometriosis' http://www.ebi.ac.uk/efo/EFO_1000416 Ovarian Endometrioid Adenocarcinoma 'Ovarian Endometrioid Adenocarcinoma' SubClassOf 'ovarian adenocarcinoma' 'Ovarian Endometrioid Adenocarcinoma' SubClassOf 'endometrium adenocarcinoma' 'Ovarian Endometrioid Adenocarcinoma' SubClassOf 'endometrioid carcinoma' 'Ovarian Endometrioid Adenocarcinoma' SubClassOf 'ovarian adenocarcinoma' 'Ovarian Endometrioid Adenocarcinoma' SubClassOf 'endometrium adenocarcinoma' 'Ovarian Endometrioid Adenocarcinoma' SubClassOf 'endometrioid carcinoma' http://www.orpha.net/ORDO/Orphanet_79197 Disorder of branched-chain amino acid metabolism 'Disorder of branched-chain amino acid metabolism' SubClassOf 'inherited amino acid metabolic disorder' 'Disorder of branched-chain amino acid metabolism' SubClassOf 'Disorder of amino acid and other organic acid metabolism' http://www.orpha.net/ORDO/Orphanet_251009 Maternal uniparental disomy of chromosome 1 'Maternal uniparental disomy of chromosome 1' SubClassOf 'chromosome 1 disorder' 'Maternal uniparental disomy of chromosome 1' SubClassOf 'Uniparental disomy of maternal origin' 'Maternal uniparental disomy of chromosome 1' SubClassOf 'uniparental disomy' 'Maternal uniparental disomy of chromosome 1' SubClassOf 'Uniparental disomy of maternal origin' http://www.orpha.net/ORDO/Orphanet_79194 Disorder of serine or glycine metabolism 'Disorder of serine or glycine metabolism' SubClassOf 'inherited amino acid metabolic disorder' 'Disorder of serine or glycine metabolism' SubClassOf 'Disorder of amino acid and other organic acid metabolism' http://www.orpha.net/ORDO/Orphanet_79193 Disorder of pyrimidine metabolism 'Disorder of pyrimidine metabolism' SubClassOf 'pyrimidine metabolism disease' 'Disorder of pyrimidine metabolism' SubClassOf 'Disorder of purine or pyrimidine metabolism' 'Disorder of pyrimidine metabolism' SubClassOf 'Disorder of purine or pyrimidine metabolism' http://www.orpha.net/ORDO/Orphanet_79196 Disorder of the gamma-glutamyl cycle 'Disorder of the gamma-glutamyl cycle' SubClassOf 'Disorder of amino acid and other organic acid metabolism' 'Disorder of the gamma-glutamyl cycle' SubClassOf 'Disorder of amino acid and other organic acid metabolism' http://www.orpha.net/ORDO/Orphanet_79195 Sterol biosynthesis disorder 'Sterol biosynthesis disorder' SubClassOf 'Sterol metabolism disorder' 'Sterol biosynthesis disorder' SubClassOf 'Developmental anomaly of metabolic origin' 'Sterol biosynthesis disorder' SubClassOf 'Sterol metabolism disorder' 'Sterol biosynthesis disorder' SubClassOf 'Developmental anomaly of metabolic origin' http://www.orpha.net/ORDO/Orphanet_251066 8p11.2 deletion syndrome '8p11.2 deletion syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 8' '8p11.2 deletion syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0008760 beta-ketothiolase deficiency 'beta-ketothiolase deficiency' SubClassOf 'Disorder of ketone body metabolism' 'beta-ketothiolase deficiency' SubClassOf 'Classic organic aciduria' 'beta-ketothiolase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019215 'beta-ketothiolase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019229 http://www.orpha.net/ORDO/Orphanet_251061 7q31 microdeletion syndrome '7q31 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 7' '7q31 microdeletion syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000216 acinar cell carcinoma 'acinar cell carcinoma' SubClassOf 'adenocarcinoma' 'acinar cell carcinoma' SubClassOf 'adenocarcinoma' http://www.orpha.net/ORDO/Orphanet_289601 Hereditary arterial and articular multiple calcification syndrome 'Hereditary arterial and articular multiple calcification syndrome' SubClassOf 'vascular disease' 'Hereditary arterial and articular multiple calcification syndrome' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_251076 8p23.1 microduplication syndrome '8p23.1 microduplication syndrome' SubClassOf 'Partial duplication of the short arm of chromosome 8' '8p23.1 microduplication syndrome' SubClassOf 'Partial duplication of the short arm of chromosome 8' http://www.ebi.ac.uk/efo/EFO_1000431 Ovarian Small Cell Carcinoma 'Ovarian Small Cell Carcinoma' SubClassOf 'ovarian carcinoma' 'Ovarian Small Cell Carcinoma' SubClassOf 'ovarian carcinoma' http://www.orpha.net/ORDO/Orphanet_251071 8p23.1 microdeletion syndrome '8p23.1 microdeletion syndrome' SubClassOf 'Syndromic urogenital tract malformation' '8p23.1 microdeletion syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 8' '8p23.1 microdeletion syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000432 Ovarian Squamous Cell Carcinoma 'Ovarian Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' 'Ovarian Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0008771 amelogenesis imperfecta type 1G 'amelogenesis imperfecta type 1G' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'amelogenesis imperfecta type 1G' SubClassOf 'Amelogenesis imperfecta' 'amelogenesis imperfecta type 1G' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019507 'amelogenesis imperfecta type 1G' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019743 http://www.orpha.net/ORDO/Orphanet_300179 Ehlers-Danlos syndrome, kyphoscoliotic and deafness type 'Ehlers-Danlos syndrome, kyphoscoliotic and deafness type' SubClassOf 'kyphoscoliotic Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, kyphoscoliotic and deafness type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000439 Pancreatic Acinar Cell Carcinoma 'Pancreatic Acinar Cell Carcinoma' SubClassOf 'acinar cell carcinoma' 'Pancreatic Acinar Cell Carcinoma' SubClassOf 'pancreatic adenocarcinoma' 'Pancreatic Acinar Cell Carcinoma' SubClassOf 'acinar cell carcinoma' 'Pancreatic Acinar Cell Carcinoma' SubClassOf 'pancreatic adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0000209 T-cell acute lymphoblastic leukemia 'T-cell acute lymphoblastic leukemia' SubClassOf 'acute lymphoblastic leukemia' 'T-cell acute lymphoblastic leukemia' SubClassOf 'acute lymphoblastic leukemia' http://www.ebi.ac.uk/efo/EFO_1000435 Ovarian Transitional Cell Carcinoma 'Ovarian Transitional Cell Carcinoma' SubClassOf 'Transitional Cell Carcinoma' 'Ovarian Transitional Cell Carcinoma' SubClassOf 'ovarian carcinoma' 'Ovarian Transitional Cell Carcinoma' SubClassOf 'Transitional Cell Carcinoma' 'Ovarian Transitional Cell Carcinoma' SubClassOf 'ovarian carcinoma' http://www.orpha.net/ORDO/Orphanet_251043 Ring chromosome 5 'Ring chromosome 5' SubClassOf 'chromosome 5 disorder' 'Ring chromosome 5' SubClassOf 'ring chromosome disorder' 'Ring chromosome 5' SubClassOf 'Ring chromosome' 'Ring chromosome 5' SubClassOf 'Ring chromosome' http://www.orpha.net/ORDO/Orphanet_251046 6p22 microdeletion syndrome '6p22 microdeletion syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 6' '6p22 microdeletion syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002890 renal carcinoma 'renal carcinoma' SubClassOf 'kidney cancer' 'renal carcinoma' SubClassOf 'carcinoma' 'renal carcinoma' SubClassOf 'kidney cancer' 'renal carcinoma' SubClassOf 'carcinoma' http://www.ebi.ac.uk/efo/EFO_1000444 Pancreatic Small Cell Neuroendocrine Carcinoma 'Pancreatic Small Cell Neuroendocrine Carcinoma' SubClassOf 'small cell carcinoma' 'Pancreatic Small Cell Neuroendocrine Carcinoma' SubClassOf 'small cell carcinoma' http://www.ebi.ac.uk/efo/EFO_0000231 adenoid cystic carcinoma 'adenoid cystic carcinoma' SubClassOf 'adenocarcinoma' 'adenoid cystic carcinoma' SubClassOf 'adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0002892 thyroid carcinoma 'thyroid carcinoma' SubClassOf 'carcinoma' 'thyroid carcinoma' SubClassOf 'thyroid cancer' 'thyroid carcinoma' SubClassOf 'carcinoma' 'thyroid carcinoma' SubClassOf 'thyroid cancer' http://www.ebi.ac.uk/efo/EFO_1000442 Pancreatic Large Cell Neuroendocrine Carcinoma 'Pancreatic Large Cell Neuroendocrine Carcinoma' SubClassOf 'large cell neuroendocrine carcinoma' 'Pancreatic Large Cell Neuroendocrine Carcinoma' SubClassOf 'large cell neuroendocrine carcinoma' http://www.ebi.ac.uk/efo/EFO_0000233 adenosquamous lung carcinoma 'adenosquamous lung carcinoma' SubClassOf 'Adenosquamous Carcinoma' 'adenosquamous lung carcinoma' SubClassOf 'Adenosquamous Carcinoma' http://www.ebi.ac.uk/efo/EFO_0002894 amelanotic skin melanoma 'amelanotic skin melanoma' SubClassOf 'amelanotic melanoma' 'amelanotic skin melanoma' SubClassOf 'cutaneous melanoma' 'amelanotic skin melanoma' SubClassOf 'amelanotic melanoma' 'amelanotic skin melanoma' SubClassOf 'cutaneous melanoma' http://purl.obolibrary.org/obo/MONDO_0008780 amyotrophic lateral sclerosis type 2, juvenile 'amyotrophic lateral sclerosis type 2, juvenile' SubClassOf 'Juvenile amyotrophic lateral sclerosis' 'amyotrophic lateral sclerosis type 2, juvenile' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017593 http://www.ebi.ac.uk/efo/EFO_0000239 adrenal gland pheochromocytoma 'adrenal gland pheochromocytoma' SubClassOf 'sympathetic paraganglioma' 'adrenal gland pheochromocytoma' SubClassOf 'Genetic endocrine tumor' 'adrenal gland pheochromocytoma' SubClassOf 'sympathetic paraganglioma' http://www.ebi.ac.uk/efo/EFO_1000448 Papillary Cystic Neoplasm 'Papillary Cystic Neoplasm' SubClassOf 'cystic neoplasm' 'Papillary Cystic Neoplasm' SubClassOf 'cystic neoplasm' http://www.orpha.net/ORDO/Orphanet_251056 6q25 microdeletion syndrome '6q25 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 6' '6q25 microdeletion syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_314795 SHOX-related short stature 'SHOX-related short stature' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' 'SHOX-related short stature' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000456 Parathyroid Gland Carcinoma 'Parathyroid Gland Carcinoma' SubClassOf 'adenocarcinoma' 'Parathyroid Gland Carcinoma' SubClassOf 'malignant tumor of parathyroid gland' 'Parathyroid Gland Carcinoma' SubClassOf 'Inborn errors of metabolism' 'Parathyroid Gland Carcinoma' SubClassOf 'adenocarcinoma' 'Parathyroid Gland Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019052 'Parathyroid Gland Carcinoma' SubClassOf 'malignant tumor of parathyroid gland' http://www.ebi.ac.uk/efo/EFO_1000453 Paraganglioma 'Paraganglioma' SubClassOf 'neurocristopathy' 'Paraganglioma' SubClassOf 'Genetic endocrine tumor' 'Paraganglioma' SubClassOf 'Rare genetic neurological disorder' 'Paraganglioma' SubClassOf 'neurocristopathy' 'Paraganglioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 'Paraganglioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0025511 http://www.ebi.ac.uk/efo/EFO_0000221 acute monocytic leukemia 'acute monocytic leukemia' SubClassOf 'Inherited acute myeloid leukemia' 'acute monocytic leukemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017893 http://www.ebi.ac.uk/efo/EFO_0000222 acute myeloid leukemia 'acute myeloid leukemia' SubClassOf 'myeloid leukemia' 'acute myeloid leukemia' SubClassOf 'hereditary disorder of connective tissue' 'acute myeloid leukemia' SubClassOf 'myeloid leukemia' http://www.ebi.ac.uk/efo/EFO_1000454 Paranasal Sinus Adenoid Cystic Carcinoma 'Paranasal Sinus Adenoid Cystic Carcinoma' SubClassOf 'adenoid cystic carcinoma' 'Paranasal Sinus Adenoid Cystic Carcinoma' SubClassOf 'adenoid cystic carcinoma' http://www.ebi.ac.uk/efo/EFO_0000224 acute promyelocytic leukemia 'acute promyelocytic leukemia' SubClassOf 'Inherited acute myeloid leukemia' 'acute promyelocytic leukemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017893 http://www.ebi.ac.uk/efo/EFO_1000450 Papillary Transitional Cell Carcinoma 'Papillary Transitional Cell Carcinoma' SubClassOf 'Transitional Cell Carcinoma' 'Papillary Transitional Cell Carcinoma' SubClassOf 'Transitional Cell Carcinoma' http://www.ebi.ac.uk/efo/EFO_0000228 adenocarcinoma 'adenocarcinoma' SubClassOf 'carcinoma' 'adenocarcinoma' SubClassOf 'carcinoma' http://www.ebi.ac.uk/efo/EFO_1000458 Parotid Gland Acinic Cell Carcinoma 'Parotid Gland Acinic Cell Carcinoma' SubClassOf 'acinar cell carcinoma' 'Parotid Gland Acinic Cell Carcinoma' SubClassOf 'acinar cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0018171 malignant germ cell tumor of ovary 'malignant germ cell tumor of ovary' SubClassOf 'Malignant Germ Cell Tumor' 'malignant germ cell tumor of ovary' SubClassOf 'Ovarian Germ Cell Tumor' 'malignant germ cell tumor of ovary' SubClassOf 'Malignant Germ Cell Tumor' 'malignant germ cell tumor of ovary' SubClassOf 'Ovarian Germ Cell Tumor' http://purl.obolibrary.org/obo/MONDO_0018170 idiopathic nephrotic syndrome 'idiopathic nephrotic syndrome' SubClassOf 'nephrotic syndrome' 'idiopathic nephrotic syndrome' SubClassOf 'familial nephrotic syndrome' 'idiopathic nephrotic syndrome' SubClassOf 'Primary glomerular disease' 'idiopathic nephrotic syndrome' SubClassOf 'nephrotic syndrome' 'idiopathic nephrotic syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015163 http://www.ebi.ac.uk/efo/EFO_0000178 gastric carcinoma 'gastric carcinoma' SubClassOf 'gastric cancer' 'gastric carcinoma' SubClassOf 'gastric cancer' http://www.ebi.ac.uk/efo/EFO_0000195 metabolic syndrome 'metabolic syndrome' SubClassOf 'syndromic disease' 'metabolic syndrome' SubClassOf 'metabolic disease' 'metabolic syndrome' SubClassOf 'metabolic disease' 'metabolic syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0000196 metastatic prostate cancer 'metastatic prostate cancer' SubClassOf 'prostate carcinoma' 'metastatic prostate cancer' SubClassOf 'prostate carcinoma' http://www.ebi.ac.uk/efo/EFO_0000197 mucinous carcinoma 'mucinous carcinoma' SubClassOf 'adenocarcinoma' 'mucinous carcinoma' SubClassOf 'adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0000198 myelodysplastic syndrome 'myelodysplastic syndrome' SubClassOf 'Genetic tumor of hematopoietic and lymphoid tissues' http://www.ebi.ac.uk/efo/EFO_0000181 head and neck squamous cell carcinoma 'head and neck squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' 'head and neck squamous cell carcinoma' SubClassOf 'head and neck carcinoma' 'head and neck squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' 'head and neck squamous cell carcinoma' SubClassOf 'head and neck carcinoma' http://www.ebi.ac.uk/efo/EFO_0000186 invasive breast ductal carcinoma 'invasive breast ductal carcinoma' SubClassOf 'breast ductal adenocarcinoma' 'invasive breast ductal carcinoma' SubClassOf 'breast ductal adenocarcinoma' http://www.orpha.net/ORDO/Orphanet_314802 Short stature due to partial GHR deficiency 'Short stature due to partial GHR deficiency' SubClassOf 'Rare genetic neurological disorder' 'Short stature due to partial GHR deficiency' SubClassOf 'pituitary dwarfism' 'Short stature due to partial GHR deficiency' SubClassOf 'Growth hormone insensitivity syndrome' 'Short stature due to partial GHR deficiency' SubClassOf 'Growth hormone insensitivity syndrome' http://www.orpha.net/ORDO/Orphanet_314811 Short stature due to GHSR deficiency 'Short stature due to GHSR deficiency' SubClassOf 'Non-acquired pituitary hormone deficiency' 'Short stature due to GHSR deficiency' SubClassOf 'Non-acquired pituitary hormone deficiency' http://www.orpha.net/ORDO/Orphanet_1980 Bilateral striopallidodentate calcinosis 'Bilateral striopallidodentate calcinosis' SubClassOf 'Genetic dementia' 'Bilateral striopallidodentate calcinosis' SubClassOf 'basal ganglia disease' 'Bilateral striopallidodentate calcinosis' SubClassOf 'Inborn errors of metabolism' 'Bilateral striopallidodentate calcinosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019052 'Bilateral striopallidodentate calcinosis' SubClassOf 'Genetic dementia' 'Bilateral striopallidodentate calcinosis' SubClassOf 'basal ganglia disease' http://www.orpha.net/ORDO/Orphanet_1987 Femoral agenesis/hypoplasia 'Femoral agenesis/hypoplasia' SubClassOf 'Non-syndromic limb reduction defect' 'Femoral agenesis/hypoplasia' SubClassOf 'Non-syndromic limb reduction defect' http://www.orpha.net/ORDO/Orphanet_169826 Congenital vitamin K-dependent coagulation factors deficiency 'Congenital vitamin K-dependent coagulation factors deficiency' SubClassOf 'congenital hematological disorder' 'Congenital vitamin K-dependent coagulation factors deficiency' SubClassOf 'coagulation protein disease' 'Congenital vitamin K-dependent coagulation factors deficiency' SubClassOf 'hemorrhagic disease' http://www.orpha.net/ORDO/Orphanet_1988 Femoral-facial syndrome 'Femoral-facial syndrome' SubClassOf 'congenital limb malformation' 'Femoral-facial syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Femoral-facial syndrome' SubClassOf 'Dysostosis of genetic origin' 'Femoral-facial syndrome' SubClassOf 'Orofacial clefting syndrome' 'Femoral-facial syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Femoral-facial syndrome' SubClassOf 'Orofacial clefting syndrome' http://www.orpha.net/ORDO/Orphanet_1986 Gollop-Wolfgang complex 'Gollop-Wolfgang complex' SubClassOf 'Dysostosis with combined reduction defects of upper and lower limbs' 'Gollop-Wolfgang complex' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Gollop-Wolfgang complex' SubClassOf 'Genetic syndrome with limb reduction defects' 'Gollop-Wolfgang complex' SubClassOf 'Dysostosis of genetic origin' 'Gollop-Wolfgang complex' SubClassOf 'congenital limb malformation' 'Gollop-Wolfgang complex' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79224 Disorder of purine or pyrimidine metabolism 'Disorder of purine or pyrimidine metabolism' SubClassOf 'Inborn errors of metabolism' 'Disorder of purine or pyrimidine metabolism' SubClassOf 'Inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_79226 Sterol metabolism disorder 'Sterol metabolism disorder' SubClassOf 'steroid metabolism disease' 'Sterol metabolism disorder' SubClassOf 'Disorder of lipid metabolism' 'Sterol metabolism disorder' SubClassOf 'Disorder of lipid metabolism' http://www.orpha.net/ORDO/Orphanet_79225 Sphingolipidosis 'Sphingolipidosis' SubClassOf 'Lipid storage disease' 'Sphingolipidosis' SubClassOf 'Lipid storage disease' http://www.orpha.net/ORDO/Orphanet_1979 Lipodystrophy due to peptidic growth factors deficiency 'Lipodystrophy due to peptidic growth factors deficiency' SubClassOf 'Genetic lipodystrophy' 'Lipodystrophy due to peptidic growth factors deficiency' SubClassOf 'Genetic lipodystrophy' http://www.orpha.net/ORDO/Orphanet_157846 Neuroferritinopathy 'Neuroferritinopathy' SubClassOf 'Neurodegeneration with brain iron accumulation' 'Neuroferritinopathy' SubClassOf 'Disorder of iron metabolism and transport' 'Neuroferritinopathy' SubClassOf 'Huntington disease-like syndrome' 'Neuroferritinopathy' SubClassOf 'Neurodegeneration with brain iron accumulation' 'Neuroferritinopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015548 'Neuroferritinopathy' SubClassOf 'Disorder of iron metabolism and transport' http://www.orpha.net/ORDO/Orphanet_1997 Blepharo-cheilo-odontic syndrome 'Blepharo-cheilo-odontic syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Blepharo-cheilo-odontic syndrome' SubClassOf 'Congenital ectropion' 'Blepharo-cheilo-odontic syndrome' SubClassOf 'autosomal dominant disease' 'Blepharo-cheilo-odontic syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Blepharo-cheilo-odontic syndrome' SubClassOf 'Orofacial clefting syndrome' 'Blepharo-cheilo-odontic syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Blepharo-cheilo-odontic syndrome' SubClassOf 'Congenital ectropion' 'Blepharo-cheilo-odontic syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Blepharo-cheilo-odontic syndrome' SubClassOf 'Orofacial clefting syndrome' http://www.orpha.net/ORDO/Orphanet_1995 Cleft lip - retinopathy 'Cleft lip - retinopathy' SubClassOf 'Syndromic retinitis pigmentosa' 'Cleft lip - retinopathy' SubClassOf 'Orofacial clefting syndrome' 'Cleft lip - retinopathy' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Cleft lip - retinopathy' SubClassOf 'congenital nervous system disorder' 'Cleft lip - retinopathy' SubClassOf 'Syndromic retinitis pigmentosa' 'Cleft lip - retinopathy' SubClassOf 'Orofacial clefting syndrome' 'Cleft lip - retinopathy' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_1993 Pai syndrome 'Pai syndrome' SubClassOf 'Orofacial clefting syndrome' 'Pai syndrome' SubClassOf 'Frontonasal dysplasia' 'Pai syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79219 Metabolic disease involving other neurotransmitter deficiency 'Metabolic disease involving other neurotransmitter deficiency' SubClassOf 'Disorder of biogenic amine metabolism and transport' 'Metabolic disease involving other neurotransmitter deficiency' SubClassOf 'Disorder of biogenic amine metabolism and transport' http://www.orpha.net/ORDO/Orphanet_79213 Mucopolysaccharidosis 'Mucopolysaccharidosis' SubClassOf 'Developmental anomaly of metabolic origin' 'Mucopolysaccharidosis' SubClassOf 'Disorder of carbohydrate metabolism' 'Mucopolysaccharidosis' SubClassOf 'eye disease' 'Mucopolysaccharidosis' SubClassOf 'mucopolysaccharidosis or mucopolysaccharidosis-like disorder' 'Mucopolysaccharidosis' SubClassOf 'Lysosomal disease' 'Mucopolysaccharidosis' SubClassOf 'Developmental anomaly of metabolic origin' 'Mucopolysaccharidosis' SubClassOf 'Lysosomal disease' http://www.orpha.net/ORDO/Orphanet_79212 Mucolipidosis 'Mucolipidosis' SubClassOf 'Developmental anomaly of metabolic origin' 'Mucolipidosis' SubClassOf 'Glycoproteinosis' 'Mucolipidosis' SubClassOf 'Developmental anomaly of metabolic origin' 'Mucolipidosis' SubClassOf 'Glycoproteinosis' http://www.orpha.net/ORDO/Orphanet_169808 Mild hemophilia A 'Mild hemophilia A' SubClassOf 'Hemophilia A' 'Mild hemophilia A' SubClassOf 'Hemophilia A' http://www.orpha.net/ORDO/Orphanet_79215 Oligosaccharidosis 'Oligosaccharidosis' SubClassOf 'Disorder of carbohydrate metabolism' 'Oligosaccharidosis' SubClassOf 'Glycoproteinosis' 'Oligosaccharidosis' SubClassOf 'Developmental anomaly of metabolic origin' 'Oligosaccharidosis' SubClassOf 'Glycoproteinosis' 'Oligosaccharidosis' SubClassOf 'Developmental anomaly of metabolic origin' http://www.orpha.net/ORDO/Orphanet_169805 Moderately severe hemophilia A 'Moderately severe hemophilia A' SubClassOf 'Hemophilia A' 'Moderately severe hemophilia A' SubClassOf 'Hemophilia A' http://www.orpha.net/ORDO/Orphanet_79214 Disorder of biogenic amine metabolism and transport 'Disorder of biogenic amine metabolism and transport' SubClassOf 'Inborn errors of metabolism' 'Disorder of biogenic amine metabolism and transport' SubClassOf 'Inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_79207 Disorder of lysosomal amino acid transport 'Disorder of lysosomal amino acid transport' SubClassOf 'Lysosomal disease' 'Disorder of lysosomal amino acid transport' SubClassOf 'Lysosomal disease' http://www.orpha.net/ORDO/Orphanet_79201 Glycogen storage disease 'Glycogen storage disease' SubClassOf 'Disorder of energy metabolism' 'Glycogen storage disease' SubClassOf 'Disorder of carbohydrate metabolism' 'Glycogen storage disease' SubClassOf 'Disorder of carbohydrate metabolism' http://www.orpha.net/ORDO/Orphanet_79204 Lipid storage disease 'Lipid storage disease' SubClassOf 'Lysosomal disease' 'Lipid storage disease' SubClassOf 'Disorder of lipid metabolism' 'Lipid storage disease' SubClassOf 'Lysosomal disease' http://www.orpha.net/ORDO/Orphanet_79200 Disorder of energy metabolism 'Disorder of energy metabolism' SubClassOf 'Inborn errors of metabolism' 'Disorder of energy metabolism' SubClassOf 'Inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_157850 Pantothenate kinase-associated neurodegeneration 'Pantothenate kinase-associated neurodegeneration' SubClassOf 'Neurodegeneration with brain iron accumulation' 'Pantothenate kinase-associated neurodegeneration' SubClassOf 'Disorder of other vitamins and cofactors metabolism and transport' 'Pantothenate kinase-associated neurodegeneration' SubClassOf 'Neuroacanthocytosis' 'Pantothenate kinase-associated neurodegeneration' SubClassOf 'eye degenerative disorder' 'Pantothenate kinase-associated neurodegeneration' SubClassOf 'Syndromic retinitis pigmentosa' 'Pantothenate kinase-associated neurodegeneration' SubClassOf 'Rare syndromic dyslipidemia' 'Pantothenate kinase-associated neurodegeneration' SubClassOf 'Neurodegeneration with brain iron accumulation' 'Pantothenate kinase-associated neurodegeneration' SubClassOf 'Disorder of other vitamins and cofactors metabolism and transport' 'Pantothenate kinase-associated neurodegeneration' SubClassOf 'Neuroacanthocytosis' 'Pantothenate kinase-associated neurodegeneration' SubClassOf 'Syndromic retinitis pigmentosa' http://www.ebi.ac.uk/efo/EFO_1000580 Thymic Undifferentiated Carcinoma 'Thymic Undifferentiated Carcinoma' SubClassOf 'undifferentiated carcinoma' 'Thymic Undifferentiated Carcinoma' SubClassOf 'undifferentiated carcinoma' http://www.orpha.net/ORDO/Orphanet_67036 Autosomal dominant optic atrophy and cataract 'Autosomal dominant optic atrophy and cataract' SubClassOf 'Autosomal dominant optic atrophy' 'Autosomal dominant optic atrophy and cataract' SubClassOf 'Autosomal dominant optic atrophy' http://www.orpha.net/ORDO/Orphanet_1822 Dysplasia epiphysealis hemimelica 'Dysplasia epiphysealis hemimelica' SubClassOf 'Primary bone dysplasia' http://www.ebi.ac.uk/efo/EFO_1000583 Thymoma Type B3 'Thymoma Type B3' SubClassOf 'thymoma type B' 'Thymoma Type B3' SubClassOf 'thymoma type B' http://www.ebi.ac.uk/efo/EFO_1000584 Thymoma Type B1 'Thymoma Type B1' SubClassOf 'thymoma type B' 'Thymoma Type B1' SubClassOf 'thymoma type B' http://www.orpha.net/ORDO/Orphanet_314889 Autosomal dominant proximal renal tubular acidosis 'Autosomal dominant proximal renal tubular acidosis' SubClassOf 'Proximal renal tubular acidosis' 'Autosomal dominant proximal renal tubular acidosis' SubClassOf 'autosomal dominant disease' 'Autosomal dominant proximal renal tubular acidosis' SubClassOf 'Proximal renal tubular acidosis' http://www.ebi.ac.uk/efo/EFO_1000581 Thymoma 'Thymoma' SubClassOf 'thymic epithelial neoplasm' 'Thymoma' SubClassOf 'thymic epithelial neoplasm' http://www.ebi.ac.uk/efo/EFO_1000582 Thymoma Type AB 'Thymoma Type AB' SubClassOf 'Thymoma' 'Thymoma Type AB' SubClassOf 'Thymoma' http://www.orpha.net/ORDO/Orphanet_1818 Ectodermal dysplasia, trichoodontoonychial type 'Ectodermal dysplasia, trichoodontoonychial type' SubClassOf 'Ectodermal dysplasia syndrome' 'Ectodermal dysplasia, trichoodontoonychial type' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_1816 Ectodermal dysplasia, Berlin type 'Ectodermal dysplasia, Berlin type' SubClassOf 'Ectodermal dysplasia syndrome' 'Ectodermal dysplasia, Berlin type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79022 Simpson-Golabi-Behmel syndrome type 2 'Simpson-Golabi-Behmel syndrome type 2' SubClassOf 'Simpson-Golabi-Behmel syndrome' 'Simpson-Golabi-Behmel syndrome type 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000590 Thyroid Gland Mucoepidermoid Carcinoma 'Thyroid Gland Mucoepidermoid Carcinoma' SubClassOf 'mucoepidermoid carcinoma' 'Thyroid Gland Mucoepidermoid Carcinoma' SubClassOf 'mucoepidermoid carcinoma' http://www.ebi.ac.uk/efo/EFO_1000591 Thyroid Gland Mucosa-Associated Lymphoid Tissue Lymphoma 'Thyroid Gland Mucosa-Associated Lymphoid Tissue Lymphoma' SubClassOf 'MALT lymphoma' 'Thyroid Gland Mucosa-Associated Lymphoid Tissue Lymphoma' SubClassOf 'MALT lymphoma' http://www.orpha.net/ORDO/Orphanet_67048 3-methylglutaconic aciduria type 4 '3-methylglutaconic aciduria type 4' SubClassOf '3-methylglutaconic aciduria' '3-methylglutaconic aciduria type 4' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_67046 3-methylglutaconic aciduria type 1 '3-methylglutaconic aciduria type 1' SubClassOf '3-methylglutaconic aciduria' '3-methylglutaconic aciduria type 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_67047 3-methylglutaconic aciduria type 3 '3-methylglutaconic aciduria type 3' SubClassOf 'syndromic hereditary optic neuropathy' '3-methylglutaconic aciduria type 3' SubClassOf '3-methylglutaconic aciduria' '3-methylglutaconic aciduria type 3' SubClassOf 'Autosomal recessive syndromic optic atrophy' '3-methylglutaconic aciduria type 3' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000598 Tracheal Adenoid Cystic Carcinoma 'Tracheal Adenoid Cystic Carcinoma' SubClassOf 'Tracheal Carcinoma' 'Tracheal Adenoid Cystic Carcinoma' SubClassOf 'adenoid cystic carcinoma' 'Tracheal Adenoid Cystic Carcinoma' SubClassOf 'Tracheal Carcinoma' 'Tracheal Adenoid Cystic Carcinoma' SubClassOf 'adenoid cystic carcinoma' http://www.orpha.net/ORDO/Orphanet_67044 Thrombocytopenia with congenital dyserythropoietic anemia 'Thrombocytopenia with congenital dyserythropoietic anemia' SubClassOf 'Congenital dyserythropoietic anemia' 'Thrombocytopenia with congenital dyserythropoietic anemia' SubClassOf 'GATA1-Related X-Linked Cytopenia' 'Thrombocytopenia with congenital dyserythropoietic anemia' SubClassOf 'thrombocytopenia, X-linked, with or without dyserythropoietic anemia' 'Thrombocytopenia with congenital dyserythropoietic anemia' SubClassOf 'Inherited giant platelet disorder' 'Thrombocytopenia with congenital dyserythropoietic anemia' SubClassOf 'Congenital dyserythropoietic anemia' 'Thrombocytopenia with congenital dyserythropoietic anemia' SubClassOf 'Inherited giant platelet disorder' http://www.ebi.ac.uk/efo/EFO_1000599 Tracheal Carcinoma 'Tracheal Carcinoma' SubClassOf 'tracheal cancer' 'Tracheal Carcinoma' SubClassOf 'carcinoma' 'Tracheal Carcinoma' SubClassOf 'tracheal cancer' 'Tracheal Carcinoma' SubClassOf 'carcinoma' http://www.orpha.net/ORDO/Orphanet_1834 Axial mesodermal dysplasia spectrum 'Axial mesodermal dysplasia spectrum' SubClassOf 'Syndromic renal or urinary tract malformation' 'Axial mesodermal dysplasia spectrum' SubClassOf 'Syndromic urogenital tract malformation' 'Axial mesodermal dysplasia spectrum' SubClassOf 'Syndromic anorectal malformation' 'Axial mesodermal dysplasia spectrum' SubClassOf 'Syndromic renal or urinary tract malformation' 'Axial mesodermal dysplasia spectrum' SubClassOf 'Syndromic anorectal malformation' http://www.orpha.net/ORDO/Orphanet_67045 X-linked intellectual disability with isolated growth hormone deficiency 'X-linked intellectual disability with isolated growth hormone deficiency' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability with isolated growth hormone deficiency' SubClassOf 'Isolated growth hormone deficiency type III' 'X-linked intellectual disability with isolated growth hormone deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000596 Tibial Adamantinoma 'Tibial Adamantinoma' SubClassOf 'Adamantinoma' 'Tibial Adamantinoma' SubClassOf 'Adamantinoma' 'Tibial Adamantinoma' SubClassOf 'hereditary disorder of connective tissue' 'Tibial Adamantinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002422 http://www.orpha.net/ORDO/Orphanet_67042 Late-onset retinal degeneration 'Late-onset retinal degeneration' SubClassOf 'Retinal dystrophy' 'Late-onset retinal degeneration' SubClassOf 'Retinal dystrophy' http://www.orpha.net/ORDO/Orphanet_1832 Lethal osteosclerotic bone dysplasia 'Lethal osteosclerotic bone dysplasia' SubClassOf 'Neonatal osteosclerotic dysplasia' 'Lethal osteosclerotic bone dysplasia' SubClassOf 'Neonatal osteosclerotic dysplasia' http://www.ebi.ac.uk/efo/EFO_1000594 Thyroid Gland Squamous Cell Carcinoma 'Thyroid Gland Squamous Cell Carcinoma' SubClassOf 'thyroid carcinoma' 'Thyroid Gland Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' 'Thyroid Gland Squamous Cell Carcinoma' SubClassOf 'thyroid carcinoma' 'Thyroid Gland Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' http://www.ebi.ac.uk/efo/EFO_1000595 Thyroid Gland Undifferentiated (Anaplastic) Carcinoma 'Thyroid Gland Undifferentiated (Anaplastic) Carcinoma' SubClassOf 'undifferentiated carcinoma' 'Thyroid Gland Undifferentiated (Anaplastic) Carcinoma' SubClassOf 'thyroid carcinoma' 'Thyroid Gland Undifferentiated (Anaplastic) Carcinoma' SubClassOf 'undifferentiated carcinoma' 'Thyroid Gland Undifferentiated (Anaplastic) Carcinoma' SubClassOf 'thyroid carcinoma' http://www.orpha.net/ORDO/Orphanet_1830 Schimke immuno-osseous dysplasia 'Schimke immuno-osseous dysplasia' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Schimke immuno-osseous dysplasia' SubClassOf 'Primary glomerular disease' 'Schimke immuno-osseous dysplasia' SubClassOf 'Malformative syndrome with dentinogenesis imperfecta' 'Schimke immuno-osseous dysplasia' SubClassOf 'Immuno-osseous dysplasia' 'Schimke immuno-osseous dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_67041 Hyaluronidase deficiency 'Hyaluronidase deficiency' SubClassOf 'Mucopolysaccharidosis' 'Hyaluronidase deficiency' SubClassOf 'has modifier' some 'rare' 'Hyaluronidase deficiency' SubClassOf 'Mucopolysaccharidosis' http://www.orpha.net/ORDO/Orphanet_1826 Frontometaphyseal dysplasia 'Frontometaphyseal dysplasia' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Frontometaphyseal dysplasia' SubClassOf 'otopalatodigital syndrome spectrum disorder' 'Frontometaphyseal dysplasia' SubClassOf 'Frontootopalatodigital syndrome' 'Frontometaphyseal dysplasia' SubClassOf 'X-linked syndromic intellectual disability' 'Frontometaphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019027 http://www.orpha.net/ORDO/Orphanet_1827 Acromelic frontonasal dysplasia 'Acromelic frontonasal dysplasia' SubClassOf 'Acrofacial dysostosis' 'Acromelic frontonasal dysplasia' SubClassOf 'Frontonasal dysplasia' 'Acromelic frontonasal dysplasia' SubClassOf 'Acrofacial dysostosis' 'Acromelic frontonasal dysplasia' SubClassOf 'Frontonasal dysplasia' http://www.orpha.net/ORDO/Orphanet_1824 Lowry-Wood syndrome 'Lowry-Wood syndrome' SubClassOf 'Multiple epiphyseal dysplasia and pseudoachondroplasia' 'Lowry-Wood syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1825 Epiphyseal dysplasia - hearing loss - dysmorphism 'Epiphyseal dysplasia - hearing loss - dysmorphism' SubClassOf 'congenital nervous system disorder' 'Epiphyseal dysplasia - hearing loss - dysmorphism' SubClassOf 'syndromic intellectual disability' 'Epiphyseal dysplasia - hearing loss - dysmorphism' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Epiphyseal dysplasia - hearing loss - dysmorphism' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_1844 Bone dysplasia, Azouz type 'Bone dysplasia, Azouz type' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_1842 Bone dysplasia, lethal Holmgren type 'Bone dysplasia, lethal Holmgren type' SubClassOf 'Lethal chondrodysplasia' 'Bone dysplasia, lethal Holmgren type' SubClassOf 'Lethal chondrodysplasia' http://www.orpha.net/ORDO/Orphanet_1839 Hereditary mucoepithelial dysplasia 'Hereditary mucoepithelial dysplasia' SubClassOf 'skin disease' 'Hereditary mucoepithelial dysplasia' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_1837 Ulna metaphyseal dysplasia syndrome 'Ulna metaphyseal dysplasia syndrome' SubClassOf 'Multiple metaphyseal dysplasia' 'Ulna metaphyseal dysplasia syndrome' SubClassOf 'Multiple metaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_1836 Mesomelic dysplasia, Kantaputra type 'Mesomelic dysplasia, Kantaputra type' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' 'Mesomelic dysplasia, Kantaputra type' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' http://www.orpha.net/ORDO/Orphanet_1855 Spondyloenchondrodysplasia 'Spondyloenchondrodysplasia' SubClassOf 'Spondylometaphyseal dysplasia' 'Spondyloenchondrodysplasia' SubClassOf 'Immunodeficiency syndrome with autoimmunity' 'Spondyloenchondrodysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1856 Spondyloperipheral dysplasia - short ulna 'Spondyloperipheral dysplasia - short ulna' SubClassOf 'hereditary disorder of connective tissue' 'Spondyloperipheral dysplasia - short ulna' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloperipheral dysplasia - short ulna' SubClassOf 'type 2 collagenopathy' 'Spondyloperipheral dysplasia - short ulna' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_1851 Multicystic dysplastic kidney 'Multicystic dysplastic kidney' SubClassOf 'Cystic Kidney Disease' 'Multicystic dysplastic kidney' SubClassOf 'Genetic non-syndromic renal or urinary tract malformation' 'Multicystic dysplastic kidney' SubClassOf 'Familial cystic renal disease' 'Multicystic dysplastic kidney' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019741 'Multicystic dysplastic kidney' SubClassOf 'Genetic non-syndromic renal or urinary tract malformation' http://www.orpha.net/ORDO/Orphanet_1852 X-linked retinal dysplasia 'X-linked retinal dysplasia' SubClassOf 'Retinal dystrophy' 'X-linked retinal dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1848 Bilateral renal agenesis 'Bilateral renal agenesis' SubClassOf 'renal agenesis' 'Potter sequence' DisjointWith 'Bilateral renal agenesis' 'Bilateral renal agenesis' SubClassOf 'Genetic non-syndromic renal or urinary tract malformation' http://www.orpha.net/ORDO/Orphanet_1849 Infundibulopelvic stenosis - multicystic kidney 'Infundibulopelvic stenosis - multicystic kidney' SubClassOf 'Syndromic renal or urinary tract malformation' 'Infundibulopelvic stenosis - multicystic kidney' SubClassOf 'Syndromic renal or urinary tract malformation' http://www.orpha.net/ORDO/Orphanet_399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' SubClassOf 'male infertility' http://www.orpha.net/ORDO/Orphanet_399808 Male infertility with teratozoospermia due to single gene mutation 'Male infertility with teratozoospermia due to single gene mutation' SubClassOf 'male infertility' http://www.orpha.net/ORDO/Orphanet_289560 Neurodegeneration with brain iron accumulation due to C19orf12 mutation 'Neurodegeneration with brain iron accumulation due to C19orf12 mutation' SubClassOf 'Autosomal recessive syndromic optic atrophy' 'Neurodegeneration with brain iron accumulation due to C19orf12 mutation' SubClassOf 'Neurodegeneration with brain iron accumulation' 'Neurodegeneration with brain iron accumulation due to C19orf12 mutation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79062 Disorder of amino acid and other organic acid metabolism 'Disorder of amino acid and other organic acid metabolism' SubClassOf 'Inborn errors of metabolism' 'Disorder of amino acid and other organic acid metabolism' SubClassOf 'Inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_289573 Fatal multiple mitochondrial dysfunction syndrome 'Fatal multiple mitochondrial dysfunction syndrome' SubClassOf 'Neurometabolic disease' 'Fatal multiple mitochondrial dysfunction syndrome' SubClassOf 'Cerebral organic aciduria' 'Fatal multiple mitochondrial dysfunction syndrome' SubClassOf 'Lipoic acid biosynthesis defect' 'Fatal multiple mitochondrial dysfunction syndrome' SubClassOf 'Lipoic acid biosynthesis defect' 'Fatal multiple mitochondrial dysfunction syndrome' SubClassOf 'mineral metabolism disease' http://www.orpha.net/ORDO/Orphanet_1801 Kyphomelic dysplasia 'Kyphomelic dysplasia' SubClassOf 'Bent bone dysplasia' 'Kyphomelic dysplasia' SubClassOf 'Bent bone dysplasia' http://www.orpha.net/ORDO/Orphanet_314822 Primary renal tubular acidosis 'Primary renal tubular acidosis' SubClassOf 'Genetic renal tubular disease' 'Primary renal tubular acidosis' SubClassOf 'renal tubule disease' 'Primary renal tubular acidosis' SubClassOf 'Genetic renal tubular disease' http://www.orpha.net/ORDO/Orphanet_289586 Exfoliative ichthyosis 'Exfoliative ichthyosis' SubClassOf 'Autosomal recessive congenital ichthyosis' 'Exfoliative ichthyosis' SubClassOf 'Autosomal recessive congenital ichthyosis' http://www.orpha.net/ORDO/Orphanet_1811 Odontomicronychial dysplasia 'Odontomicronychial dysplasia' SubClassOf 'Syndromic nail anomaly' 'Odontomicronychial dysplasia' SubClassOf 'Syndromic nail anomaly' http://www.orpha.net/ORDO/Orphanet_1812 Ectodermal dysplasia - intellectual disability - central nervous system malformation 'Ectodermal dysplasia - intellectual disability - central nervous system malformation' SubClassOf 'Ectodermal dysplasia syndrome' 'Ectodermal dysplasia - intellectual disability - central nervous system malformation' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_1810 Autosomal dominant hypohidrotic ectodermal dysplasia 'Autosomal dominant hypohidrotic ectodermal dysplasia' SubClassOf 'autosomal dominant disease' 'Autosomal dominant hypohidrotic ectodermal dysplasia' SubClassOf 'Hypohidrotic ectodermal dysplasia' 'Autosomal dominant hypohidrotic ectodermal dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016535 http://www.orpha.net/ORDO/Orphanet_1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type 'Hidrotic ectodermal dysplasia, Christianson-Fourie type' SubClassOf 'Ectodermal dysplasia syndrome' 'Hidrotic ectodermal dysplasia, Christianson-Fourie type' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_1809 Hidrotic ectodermal dysplasia, Halal type 'Hidrotic ectodermal dysplasia, Halal type' SubClassOf 'Ectodermal dysplasia syndrome' 'Hidrotic ectodermal dysplasia, Halal type' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_1806 Ectodermal dysplasia - blindness 'Ectodermal dysplasia - blindness' SubClassOf 'Ectodermal dysplasia syndrome' 'Ectodermal dysplasia - blindness' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_1807 Focal facial dermal dysplasia type III 'Focal facial dermal dysplasia type III' SubClassOf 'Focal facial dermal dysplasia' 'Focal facial dermal dysplasia type III' SubClassOf 'Focal facial dermal dysplasia' http://www.orpha.net/ORDO/Orphanet_1804 Dyssegmental dysplasia - glaucoma 'Dyssegmental dysplasia - glaucoma' SubClassOf 'syndromic disease' 'Dyssegmental dysplasia - glaucoma' SubClassOf 'eye disease' http://www.orpha.net/ORDO/Orphanet_1802 Ghosal hematodiaphyseal dysplasia 'Ghosal hematodiaphyseal dysplasia' SubClassOf 'bone disease' http://www.orpha.net/ORDO/Orphanet_1803 Thoracomelic dysplasia 'Thoracomelic dysplasia' SubClassOf 'thoracic malformation' 'Thoracomelic dysplasia' SubClassOf 'Short rib dysplasia' 'Thoracomelic dysplasia' SubClassOf 'Short rib dysplasia' http://www.orpha.net/ORDO/Orphanet_324294 T-cell immunodeficiency with epidermodysplasia verruciformis 'T-cell immunodeficiency with epidermodysplasia verruciformis' SubClassOf 'Primary immunodeficiency due to a defect in innate immunity' 'T-cell immunodeficiency with epidermodysplasia verruciformis' SubClassOf 'Other immunodeficiency syndromes due to defects in innate immunity' 'T-cell immunodeficiency with epidermodysplasia verruciformis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_324290 Early-onset Lafora body disease 'Early-onset Lafora body disease' SubClassOf 'Progressive myoclonic epilepsy' 'Early-onset Lafora body disease' SubClassOf 'Progressive myoclonic epilepsy' http://www.ebi.ac.uk/efo/EFO_1000508 Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions 'Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions' SubClassOf 'renal cell adenocarcinoma' 'Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions' SubClassOf 'renal cell adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1000506 Rectal Villous Adenoma 'Rectal Villous Adenoma' SubClassOf 'villous adenoma' 'Rectal Villous Adenoma' SubClassOf 'villous adenoma' http://www.orpha.net/ORDO/Orphanet_289527 Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency 'Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency' SubClassOf 'familial hypertrophic cardiomyopathy' 'Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency' SubClassOf 'hypertrophic cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_289522 Microtriplication 11q24.1 'Microtriplication 11q24.1' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Microtriplication 11q24.1' SubClassOf 'Partial duplication of the long arm of chromosome 11' 'Microtriplication 11q24.1' SubClassOf 'Partial duplication of the long arm of chromosome 11' 'Microtriplication 11q24.1' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_79091 Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia 'Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia' SubClassOf 'Inclusion myopathy' 'Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia' SubClassOf 'myopathy, proximal, and ophthalmoplegia' 'Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia' SubClassOf 'Inclusion myopathy' http://www.ebi.ac.uk/efo/EFO_1000519 Salivary Gland Small Cell Carcinoma 'Salivary Gland Small Cell Carcinoma' SubClassOf 'small cell carcinoma' 'Salivary Gland Small Cell Carcinoma' SubClassOf 'salivary gland carcinoma' 'Salivary Gland Small Cell Carcinoma' SubClassOf 'small cell carcinoma' 'Salivary Gland Small Cell Carcinoma' SubClassOf 'salivary gland carcinoma' http://www.ebi.ac.uk/efo/EFO_1000516 Salivary Gland Carcinoma ex Pleomorphic Adenoma 'Salivary Gland Carcinoma ex Pleomorphic Adenoma' SubClassOf 'salivary gland carcinoma' 'Salivary Gland Carcinoma ex Pleomorphic Adenoma' SubClassOf 'carcinoma ex pleomorphic adenoma' 'Salivary Gland Carcinoma ex Pleomorphic Adenoma' SubClassOf 'carcinoma ex pleomorphic adenoma' 'Salivary Gland Carcinoma ex Pleomorphic Adenoma' SubClassOf 'salivary gland carcinoma' http://www.ebi.ac.uk/efo/EFO_1000517 Salivary Gland Large Cell Carcinoma 'Salivary Gland Large Cell Carcinoma' SubClassOf 'salivary gland carcinoma' 'Salivary Gland Large Cell Carcinoma' SubClassOf 'large cell carcinoma' 'Salivary Gland Large Cell Carcinoma' SubClassOf 'salivary gland carcinoma' 'Salivary Gland Large Cell Carcinoma' SubClassOf 'large cell carcinoma' http://www.ebi.ac.uk/efo/EFO_1000514 Salivary Gland Adenosquamous Carcinoma 'Salivary Gland Adenosquamous Carcinoma' SubClassOf 'Adenosquamous Carcinoma' 'Salivary Gland Adenosquamous Carcinoma' SubClassOf 'Adenosquamous Carcinoma' http://www.ebi.ac.uk/efo/EFO_1000515 Salivary Gland Basal Cell Adenocarcinoma 'Salivary Gland Basal Cell Adenocarcinoma' SubClassOf 'adenocarcinoma' 'Salivary Gland Basal Cell Adenocarcinoma' SubClassOf 'skin basal cell carcinoma' 'Salivary Gland Basal Cell Adenocarcinoma' SubClassOf 'adenocarcinoma' 'Salivary Gland Basal Cell Adenocarcinoma' SubClassOf 'skin basal cell carcinoma' http://www.ebi.ac.uk/efo/EFO_1000513 Salivary Gland Acinic Cell Carcinoma 'Salivary Gland Acinic Cell Carcinoma' SubClassOf 'acinar cell carcinoma' 'Salivary Gland Acinic Cell Carcinoma' SubClassOf 'acinar cell carcinoma' http://www.orpha.net/ORDO/Orphanet_289539 BAP1-related tumor predisposition syndrome 'BAP1-related tumor predisposition syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' 'BAP1-related tumor predisposition syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79095 Congenital bile acid synthesis defect type 4 'Congenital bile acid synthesis defect type 4' SubClassOf 'congenital nervous system disorder' 'Congenital bile acid synthesis defect type 4' SubClassOf 'Alpha-methylacyl-CoA racemase deficiency' 'Congenital bile acid synthesis defect type 4' SubClassOf 'Congenital bile acid synthesis defect' 'Congenital bile acid synthesis defect type 4' SubClassOf 'Peroxisomal disease' 'Congenital bile acid synthesis defect type 4' SubClassOf 'Congenital bile acid synthesis defect' http://www.orpha.net/ORDO/Orphanet_79094 Grange syndrome 'Grange syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Grange syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_79097 Folinic acid-responsive seizures 'Folinic acid-responsive seizures' SubClassOf 'Metabolic disease involving other neurotransmitter deficiency' 'Folinic acid-responsive seizures' SubClassOf 'Neurometabolic disease' 'Folinic acid-responsive seizures' SubClassOf 'metabolic epilepsy' 'Folinic acid-responsive seizures' SubClassOf 'Metabolic disease involving other neurotransmitter deficiency' 'Folinic acid-responsive seizures' SubClassOf 'Neurometabolic disease' http://www.orpha.net/ORDO/Orphanet_79096 Pyridoxal phosphate-responsive seizures 'Pyridoxal phosphate-responsive seizures' SubClassOf 'Neurometabolic disease' 'Pyridoxal phosphate-responsive seizures' SubClassOf 'Disorder of pyridoxine metabolism' 'Pyridoxal phosphate-responsive seizures' SubClassOf 'metabolic epilepsy' 'Pyridoxal phosphate-responsive seizures' SubClassOf 'Disorder of other vitamins and cofactors metabolism and transport' 'Pyridoxal phosphate-responsive seizures' SubClassOf 'Neurometabolic disease' 'Pyridoxal phosphate-responsive seizures' SubClassOf 'Disorder of pyridoxine metabolism' 'Pyridoxal phosphate-responsive seizures' SubClassOf 'Disorder of other vitamins and cofactors metabolism and transport' http://purl.obolibrary.org/obo/MONDO_0008627 ureter cancer 'ureter cancer' SubClassOf 'Malignant Urinary System Neoplasm' 'ureter cancer' SubClassOf 'Malignant Urinary System Neoplasm' http://www.ebi.ac.uk/efo/EFO_1000520 Sarcomatoid Carcinoma 'Sarcomatoid Carcinoma' SubClassOf 'carcinoma' 'Sarcomatoid Carcinoma' SubClassOf 'carcinoma' http://www.orpha.net/ORDO/Orphanet_180079 Pseudounicornuate uterus 'Pseudounicornuate uterus' SubClassOf 'Unilateral aplasia of the Müllerian ducts' 'Pseudounicornuate uterus' SubClassOf 'Unilateral aplasia of the Müllerian ducts' http://www.ebi.ac.uk/efo/EFO_1000527 Sinonasal Undifferentiated Carcinoma 'Sinonasal Undifferentiated Carcinoma' SubClassOf 'undifferentiated carcinoma' 'Sinonasal Undifferentiated Carcinoma' SubClassOf 'undifferentiated carcinoma' http://www.ebi.ac.uk/efo/EFO_1000523 Sex Hormone-Producing Adrenal Cortex Adenoma 'Sex Hormone-Producing Adrenal Cortex Adenoma' SubClassOf 'adrenocortical adenoma' 'Sex Hormone-Producing Adrenal Cortex Adenoma' SubClassOf 'adrenocortical adenoma' http://www.ebi.ac.uk/efo/EFO_1000524 Signet Ring Cell Gastric Adenocarcinoma 'Signet Ring Cell Gastric Adenocarcinoma' SubClassOf 'signet ring cell carcinoma' 'Signet Ring Cell Gastric Adenocarcinoma' SubClassOf 'signet ring cell carcinoma' http://www.orpha.net/ORDO/Orphanet_289548 Inherited isolated adrenal insufficiency due to CYP11A1 deficiency 'Inherited isolated adrenal insufficiency due to CYP11A1 deficiency' SubClassOf 'Genetic chronic primary adrenal insufficiency' 'Inherited isolated adrenal insufficiency due to CYP11A1 deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79084 Familial partial lipodystrophy, Köbberling type 'Familial partial lipodystrophy, Köbberling type' SubClassOf 'Familial partial lipodystrophy' 'Familial partial lipodystrophy, Köbberling type' SubClassOf 'Familial partial lipodystrophy' http://purl.obolibrary.org/obo/MONDO_0021605 benign eyelid neoplasm 'benign eyelid neoplasm' SubClassOf 'benign neoplasm of eye' 'benign eyelid neoplasm' SubClassOf 'benign neoplasm of eye' http://www.orpha.net/ORDO/Orphanet_79083 Familial partial lipodystrophy associated with PPARG mutations 'Familial partial lipodystrophy associated with PPARG mutations' SubClassOf 'Familial partial lipodystrophy' 'Familial partial lipodystrophy associated with PPARG mutations' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79085 Familial partial lipodystrophy due to AKT2 mutations 'Familial partial lipodystrophy due to AKT2 mutations' SubClassOf 'Familial partial lipodystrophy' 'Familial partial lipodystrophy due to AKT2 mutations' SubClassOf 'Familial partial lipodystrophy' http://www.ebi.ac.uk/efo/EFO_1000532 small intestinal adenocarcinoma 'small intestinal adenocarcinoma' SubClassOf 'adenocarcinoma' 'small intestinal adenocarcinoma' SubClassOf 'adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1000533 Small Intestinal Burkitt Lymphoma 'Small Intestinal Burkitt Lymphoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017128 http://www.orpha.net/ORDO/Orphanet_289553 Dysmorphism - conductive hearing loss - heart defect 'Dysmorphism - conductive hearing loss - heart defect' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Dysmorphism - conductive hearing loss - heart defect' SubClassOf 'Syndromic genetic deafness' 'Dysmorphism - conductive hearing loss - heart defect' SubClassOf 'Syndromic genetic deafness' http://www.ebi.ac.uk/efo/EFO_1000539 Small Intestinal Tubulovillous Adenoma 'Small Intestinal Tubulovillous Adenoma' SubClassOf 'tubulovillous adenoma' 'Small Intestinal Tubulovillous Adenoma' SubClassOf 'tubulovillous adenoma' http://www.ebi.ac.uk/efo/EFO_1000537 Small Intestinal Mucosa-Associated Lymphoid Tissue Lymphoma 'Small Intestinal Mucosa-Associated Lymphoid Tissue Lymphoma' SubClassOf 'MALT lymphoma' 'Small Intestinal Mucosa-Associated Lymphoid Tissue Lymphoma' SubClassOf 'MALT lymphoma' 'Small Intestinal Mucosa-Associated Lymphoid Tissue Lymphoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017128 http://www.orpha.net/ORDO/Orphanet_324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency 'Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency' SubClassOf 'Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome' 'Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency' SubClassOf 'Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome' http://www.ebi.ac.uk/efo/EFO_1000535 Small Intestinal Enteropathy-Associated T-Cell Lymphoma 'Small Intestinal Enteropathy-Associated T-Cell Lymphoma' SubClassOf 'enteropathy-associated T-cell lymphoma' 'Small Intestinal Enteropathy-Associated T-Cell Lymphoma' SubClassOf 'enteropathy-associated T-cell lymphoma' http://www.orpha.net/ORDO/Orphanet_79076 Juvenile polyposis of infancy 'Juvenile polyposis of infancy' SubClassOf 'Juvenile polyposis syndrome' 'Juvenile polyposis of infancy' SubClassOf 'Juvenile polyposis syndrome' http://purl.obolibrary.org/obo/MONDO_0008648 ventricular tachycardia, familial 'ventricular tachycardia, familial' SubClassOf 'Genetic cardiac rhythm disease' 'ventricular tachycardia, familial' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015110 http://www.ebi.ac.uk/efo/EFO_1000543 Spinal Chordoma 'Spinal Chordoma' SubClassOf 'Chordoma' 'Spinal Chordoma' SubClassOf 'Rare genetic neurological disorder' 'Spinal Chordoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0008978 'Spinal Chordoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 'Spinal Chordoma' SubClassOf 'Chordoma' 'Spinal Chordoma' SubClassOf 'hereditary disorder of connective tissue' http://www.ebi.ac.uk/efo/EFO_1000544 Spinal Cord Astrocytoma 'Spinal Cord Astrocytoma' SubClassOf 'astrocytoma (excluding glioblastoma)' 'Spinal Cord Astrocytoma' SubClassOf 'astrocytoma (excluding glioblastoma)' http://www.ebi.ac.uk/efo/EFO_1000548 Splenic Hodgkin Lymphoma 'Splenic Hodgkin Lymphoma' SubClassOf 'Hodgkins lymphoma' 'Splenic Hodgkin Lymphoma' SubClassOf 'Hodgkins lymphoma' http://www.orpha.net/ORDO/Orphanet_300284 Connective tissue disorder due to lysyl hydroxylase-3 deficiency 'Connective tissue disorder due to lysyl hydroxylase-3 deficiency' SubClassOf 'Syndromic genetic deafness' 'Connective tissue disorder due to lysyl hydroxylase-3 deficiency' SubClassOf 'hereditary disorder of connective tissue' 'Connective tissue disorder due to lysyl hydroxylase-3 deficiency' SubClassOf 'Syndromic genetic deafness' http://www.ebi.ac.uk/efo/EFO_1000545 Spinal Cord Primitive Neuroectodermal Tumor 'Spinal Cord Primitive Neuroectodermal Tumor' SubClassOf 'spinal cord cancer' 'Spinal Cord Primitive Neuroectodermal Tumor' SubClassOf 'spinal cord cancer' http://www.ebi.ac.uk/efo/EFO_1000554 Submandibular Gland Adenocarcinoma 'Submandibular Gland Adenocarcinoma' SubClassOf 'adenocarcinoma' 'Submandibular Gland Adenocarcinoma' SubClassOf 'submandibular gland cancer' 'Submandibular Gland Adenocarcinoma' SubClassOf 'adenocarcinoma' 'Submandibular Gland Adenocarcinoma' SubClassOf 'submandibular gland cancer' http://www.ebi.ac.uk/efo/EFO_1000555 Submandibular Gland Adenoid Cystic Carcinoma 'Submandibular Gland Adenoid Cystic Carcinoma' SubClassOf 'submandibular gland cancer' 'Submandibular Gland Adenoid Cystic Carcinoma' SubClassOf 'submandibular gland cancer' http://www.ebi.ac.uk/efo/EFO_1000552 Subcutaneous Panniculitis-Like T-Cell Lymphoma 'Subcutaneous Panniculitis-Like T-Cell Lymphoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015950 http://www.ebi.ac.uk/efo/EFO_1000551 Stromal Predominant Kidney Wilms Tumor 'Stromal Predominant Kidney Wilms Tumor' SubClassOf 'kidney Wilms tumor' 'Stromal Predominant Kidney Wilms Tumor' SubClassOf 'kidney Wilms tumor' http://www.orpha.net/ORDO/Orphanet_180068 Partial bilateral aplasia of the Müllerian ducts 'Partial bilateral aplasia of the Müllerian ducts' SubClassOf 'Müllerian aplasia' 'Partial bilateral aplasia of the Müllerian ducts' SubClassOf 'Müllerian aplasia' http://www.orpha.net/ORDO/Orphanet_300298 Severe congenital hypochromic anemia with ringed sideroblasts 'Severe congenital hypochromic anemia with ringed sideroblasts' SubClassOf 'congenital anemia' 'Severe congenital hypochromic anemia with ringed sideroblasts' SubClassOf 'Constitutional sideroblastic anemia' 'Severe congenital hypochromic anemia with ringed sideroblasts' SubClassOf 'anemia, hypochromic microcytic with iron overload' 'Severe congenital hypochromic anemia with ringed sideroblasts' SubClassOf 'Constitutional sideroblastic anemia' http://www.ebi.ac.uk/efo/EFO_1000559 Systemic Mastocytosis with Associated Clonal Hematological non-Mast-Cell Lineage Disease 'Systemic Mastocytosis with Associated Clonal Hematological non-Mast-Cell Lineage Disease' SubClassOf 'systemic mastocytosis' 'Systemic Mastocytosis with Associated Clonal Hematological non-Mast-Cell Lineage Disease' SubClassOf 'systemic mastocytosis' http://www.orpha.net/ORDO/Orphanet_180074 True unicornuate uterus 'True unicornuate uterus' SubClassOf 'Unilateral aplasia of the Müllerian ducts' 'True unicornuate uterus' SubClassOf 'Unilateral aplasia of the Müllerian ducts' http://www.orpha.net/ORDO/Orphanet_180071 Unilateral aplasia of the Müllerian ducts 'Unilateral aplasia of the Müllerian ducts' SubClassOf 'Müllerian aplasia' 'Unilateral aplasia of the Müllerian ducts' SubClassOf 'Müllerian aplasia' http://www.orpha.net/ORDO/Orphanet_300293 Transient infantile hypertriglyceridemia and hepatosteatosis 'Transient infantile hypertriglyceridemia and hepatosteatosis' SubClassOf 'Genetic parenchymatous liver disease' 'Transient infantile hypertriglyceridemia and hepatosteatosis' SubClassOf 'Genetic parenchymatous liver disease' http://www.orpha.net/ORDO/Orphanet_92050 Intestinal epithelial dysplasia 'Intestinal epithelial dysplasia' SubClassOf 'Genetic intractable diarrhea of infancy' 'Intestinal epithelial dysplasia' SubClassOf 'Congenital enteropathy involving intestinal mucosa development' 'Intestinal epithelial dysplasia' SubClassOf 'congenital secretory diarrhea' 'Intestinal epithelial dysplasia' SubClassOf 'Genetic intractable diarrhea of infancy' 'Intestinal epithelial dysplasia' SubClassOf 'Congenital enteropathy involving intestinal mucosa development' http://purl.obolibrary.org/obo/MONDO_0021640 grade III glioma 'grade III glioma' SubClassOf 'malignant glioma' 'grade III glioma' SubClassOf 'malignant glioma' http://www.ebi.ac.uk/efo/EFO_1000562 Tenosynovial Giant Cell Tumor 'Tenosynovial Giant Cell Tumor' SubClassOf 'giant cell tumor' 'Tenosynovial Giant Cell Tumor' SubClassOf 'giant cell tumor' http://www.ebi.ac.uk/efo/EFO_1000560 T-Cell Prolymphocytic Leukemia 'T-Cell Prolymphocytic Leukemia' SubClassOf 'prolymphocytic leukemia' 'T-Cell Prolymphocytic Leukemia' SubClassOf 'prolymphocytic leukemia' http://purl.obolibrary.org/obo/MONDO_0033620 myofibrillar myopathy 10 'myofibrillar myopathy 10' SubClassOf 'Myofibrillar myopathy' 'myofibrillar myopathy 10' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018943 http://www.orpha.net/ORDO/Orphanet_289504 Combined malonic and methylmalonic acidemia 'Combined malonic and methylmalonic acidemia' SubClassOf 'methylmalonic acidemia' 'Combined malonic and methylmalonic acidemia' SubClassOf 'Classic organic aciduria' 'Combined malonic and methylmalonic acidemia' SubClassOf 'Classic organic aciduria' http://purl.obolibrary.org/obo/MONDO_0033615 coenzyme q10 deficiency, primary, 9 'coenzyme q10 deficiency, primary, 9' SubClassOf 'Coenzyme Q10 deficiency' 'coenzyme q10 deficiency, primary, 9' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018151 http://purl.obolibrary.org/obo/MONDO_0033614 spastic paraplegia 83, autosomal recessive 'spastic paraplegia 83, autosomal recessive' SubClassOf 'Hereditary spastic paraplegia' 'spastic paraplegia 83, autosomal recessive' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019064 http://purl.obolibrary.org/obo/MONDO_0021631 brain astrocytoma 'brain astrocytoma' SubClassOf 'astrocytoma (excluding glioblastoma)' 'brain astrocytoma' SubClassOf 'astrocytoma (excluding glioblastoma)' http://purl.obolibrary.org/obo/MONDO_0008679 Wilms tumor 1 'Wilms tumor 1' SubClassOf 'kidney Wilms tumor' 'Wilms tumor 1' SubClassOf 'Nephroblastoma' http://purl.obolibrary.org/obo/MONDO_0033613 neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities 'neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities' SubClassOf 'Inherited congenital spastic tetraplegia' 'neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016215 http://www.ebi.ac.uk/efo/EFO_1000576 Thymic Carcinoma 'Thymic Carcinoma' SubClassOf 'carcinoma' 'Thymic Carcinoma' SubClassOf 'carcinoma' http://www.ebi.ac.uk/efo/EFO_1000577 Thymic Sarcomatoid Carcinoma 'Thymic Sarcomatoid Carcinoma' SubClassOf 'Sarcomatoid Carcinoma' 'Thymic Sarcomatoid Carcinoma' SubClassOf 'Thymic Carcinoma' 'Thymic Sarcomatoid Carcinoma' SubClassOf 'Sarcomatoid Carcinoma' 'Thymic Sarcomatoid Carcinoma' SubClassOf 'Thymic Carcinoma' http://www.ebi.ac.uk/efo/EFO_1000575 Therapy-Related Myeloid Neoplasm 'Therapy-Related Myeloid Neoplasm' SubClassOf 'hereditary disorder of connective tissue' http://purl.obolibrary.org/obo/MONDO_0008672 Watson syndrome 'Watson syndrome' SubClassOf 'Neurofibromatosis-Noonan syndrome' 'Watson syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0011035 http://www.ebi.ac.uk/efo/EFO_1000570 Testicular Non-Seminomatous Germ Cell Tumor 'Testicular Non-Seminomatous Germ Cell Tumor' SubClassOf 'Testicular Germ Cell Tumor' 'Testicular Non-Seminomatous Germ Cell Tumor' SubClassOf 'Testicular Germ Cell Tumor' http://www.ebi.ac.uk/efo/EFO_1000578 Thymic Small Cell Carcinoma 'Thymic Small Cell Carcinoma' SubClassOf 'small cell carcinoma' 'Thymic Small Cell Carcinoma' SubClassOf 'small cell carcinoma' http://www.ebi.ac.uk/efo/EFO_1000579 Thymic Squamous Cell Carcinoma 'Thymic Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' 'Thymic Squamous Cell Carcinoma' SubClassOf 'Thymic Carcinoma' 'Thymic Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' 'Thymic Squamous Cell Carcinoma' SubClassOf 'Thymic Carcinoma' http://purl.obolibrary.org/obo/MONDO_0021634 epithelial skin neoplasm 'epithelial skin neoplasm' SubClassOf 'epithelial neoplasm' 'epithelial skin neoplasm' SubClassOf 'skin neoplasm' 'epithelial skin neoplasm' SubClassOf 'epithelial neoplasm' 'epithelial skin neoplasm' SubClassOf 'skin neoplasm' http://www.orpha.net/ORDO/Orphanet_289513 12q15q21.1 microdeletion syndrome '12q15q21.1 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 12' '12q15q21.1 microdeletion syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0021638 low grade astrocytic tumor 'low grade astrocytic tumor' SubClassOf 'astrocytoma' 'low grade astrocytic tumor' SubClassOf 'astrocytoma' http://purl.obolibrary.org/obo/MONDO_0021663 sarcomatoid squamous cell carcinoma 'sarcomatoid squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' 'sarcomatoid squamous cell carcinoma' SubClassOf 'Sarcomatoid Carcinoma' 'sarcomatoid squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' 'sarcomatoid squamous cell carcinoma' SubClassOf 'Sarcomatoid Carcinoma' http://purl.obolibrary.org/obo/MONDO_0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 'dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema' SubClassOf 'Dehydrated hereditary stomatocytosis' 'dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017910 http://purl.obolibrary.org/obo/MONDO_0021652 diffuse type adenocarcinoma 'diffuse type adenocarcinoma' SubClassOf 'adenocarcinoma' 'diffuse type adenocarcinoma' SubClassOf 'adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0021656 nongerminomatous germ cell tumor 'nongerminomatous germ cell tumor' SubClassOf 'germ cell tumor' 'nongerminomatous germ cell tumor' SubClassOf 'germ cell tumor' http://purl.obolibrary.org/obo/MONDO_0021659 combined carcinoid and adenocarcinoma 'combined carcinoid and adenocarcinoma' SubClassOf 'carcinoma' 'combined carcinoid and adenocarcinoma' SubClassOf 'carcinoma' http://purl.obolibrary.org/obo/MONDO_0021681 sexually transmitted disease 'sexually transmitted disease' SubClassOf 'infectious disease' 'sexually transmitted disease' SubClassOf 'infectious disease' http://purl.obolibrary.org/obo/MONDO_0021682 viral sexually transmitted disease 'viral sexually transmitted disease' SubClassOf 'sexually transmitted disease' 'viral sexually transmitted disease' SubClassOf 'sexually transmitted disease' http://www.ebi.ac.uk/efo/EFO_0002690 systemic lupus erythematosus 'systemic lupus erythematosus' SubClassOf 'hereditary disorder of connective tissue' 'systemic lupus erythematosus' SubClassOf 'Genetic thrombotic microangiopathy' 'systemic lupus erythematosus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019737 http://purl.obolibrary.org/obo/MONDO_0021678 gram-negative bacterial infections 'gram-negative bacterial infections' SubClassOf 'bacterial disease' 'gram-negative bacterial infections' SubClassOf 'bacterial disease' http://purl.obolibrary.org/obo/MONDO_0021679 gram-positive bacterial infections 'gram-positive bacterial infections' SubClassOf 'bacterial disease' 'gram-positive bacterial infections' SubClassOf 'bacterial disease' http://purl.obolibrary.org/obo/MONDO_0033683 congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome 'congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome' SubClassOf 'Dysostosis of genetic origin' 'congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome' SubClassOf 'Immuno-osseous dysplasia' 'congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015708 'congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018454 'congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015159 'congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043005 http://www.orpha.net/ORDO/Orphanet_157794 Hereditary mixed polyposis syndrome 'Hereditary mixed polyposis syndrome' SubClassOf 'Genetic intestinal polyposis' 'Hereditary mixed polyposis syndrome' SubClassOf 'intestinal polyposis syndrome' 'Hereditary mixed polyposis syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' 'Hereditary mixed polyposis syndrome' SubClassOf 'Genetic intestinal polyposis' http://www.orpha.net/ORDO/Orphanet_157798 Hyperplastic polyposis syndrome 'Hyperplastic polyposis syndrome' SubClassOf 'Genetic intestinal polyposis' 'Hyperplastic polyposis syndrome' SubClassOf 'intestinal polyposis syndrome' 'Hyperplastic polyposis syndrome' SubClassOf 'Genetic intestinal polyposis' 'Hyperplastic polyposis syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' http://purl.obolibrary.org/obo/MONDO_0018072 persistent truncus arteriosus 'persistent truncus arteriosus' SubClassOf 'Conotruncal heart malformations' 'persistent truncus arteriosus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016581 http://www.orpha.net/ORDO/Orphanet_169796 Moderately severe hemophilia B 'Moderately severe hemophilia B' SubClassOf 'Hemophilia B' 'Moderately severe hemophilia B' SubClassOf 'Hemophilia B' http://www.orpha.net/ORDO/Orphanet_169793 Severe hemophilia B 'Severe hemophilia B' SubClassOf 'Hemophilia B' 'Severe hemophilia B' SubClassOf 'Hemophilia B' http://www.orpha.net/ORDO/Orphanet_169799 Mild hemophilia B 'Mild hemophilia B' SubClassOf 'Hemophilia B' 'Mild hemophilia B' SubClassOf 'Hemophilia B' http://purl.obolibrary.org/obo/MONDO_0043007 genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome' 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' SubClassOf 'Rare genetic neurological disorder' 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' EquivalentTo 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' and ('has modifier' some 'inherited') 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0015160 and ('has modifier' some 'inherited') 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015160 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043005 http://purl.obolibrary.org/obo/MONDO_0043009 genetic lethal multiple congenital anomalies/dysmorphic syndrome 'genetic lethal multiple congenital anomalies/dysmorphic syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome' 'genetic lethal multiple congenital anomalies/dysmorphic syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043005 http://purl.obolibrary.org/obo/MONDO_0018079 thymic epithelial neoplasm 'thymic epithelial neoplasm' SubClassOf 'epithelial neoplasm' 'thymic epithelial neoplasm' SubClassOf 'epithelial neoplasm' http://www.orpha.net/ORDO/Orphanet_69737 Bosley-Salih-Alorainy syndrome 'Bosley-Salih-Alorainy syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Bosley-Salih-Alorainy syndrome' SubClassOf 'Rare syndrome with cardiac malformations' 'Bosley-Salih-Alorainy syndrome' SubClassOf 'heart disease' 'Bosley-Salih-Alorainy syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' 'Bosley-Salih-Alorainy syndrome' SubClassOf 'Athabaskan brainstem dysgenesis syndrome' 'Bosley-Salih-Alorainy syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_69735 Hypotrichosis - lymphedema - telangiectasia 'Hypotrichosis - lymphedema - telangiectasia' SubClassOf 'Milroy disease' 'Hypotrichosis - lymphedema - telangiectasia' SubClassOf 'Syndromic lymphedema' 'Hypotrichosis - lymphedema - telangiectasia' SubClassOf 'Syndromic lymphedema' http://www.ebi.ac.uk/efo/EFO_0000094 B-cell acute lymphoblastic leukemia 'B-cell acute lymphoblastic leukemia' SubClassOf 'acute lymphoblastic leukemia' 'B-cell acute lymphoblastic leukemia' SubClassOf 'acute lymphoblastic leukemia' http://www.ebi.ac.uk/efo/EFO_0000095 chronic lymphocytic leukemia 'chronic lymphocytic leukemia' SubClassOf 'chronic leukemia' 'chronic lymphocytic leukemia' SubClassOf 'chronic leukemia' http://www.ebi.ac.uk/efo/EFO_0000096 neoplasm of mature B-cells 'neoplasm of mature B-cells' SubClassOf 'B-cell neoplasm' 'neoplasm of mature B-cells' SubClassOf 'B-cell neoplasm' http://www.orpha.net/ORDO/Orphanet_314918 Mild Canavan disease 'Mild Canavan disease' SubClassOf 'Canavan disease' 'Mild Canavan disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0010079 http://www.orpha.net/ORDO/Orphanet_157769 Situs ambiguus 'Situs ambiguus' SubClassOf 'visceral heterotaxy' 'Situs ambiguus' SubClassOf 'Genetic cardiac anomaly' 'Situs ambiguus' SubClassOf 'Genetic cardiac anomaly' http://www.orpha.net/ORDO/Orphanet_43115 Hereditary myopathy with lactic acidosis due to ISCU deficiency 'Hereditary myopathy with lactic acidosis due to ISCU deficiency' SubClassOf 'Metabolic myopathy' 'Hereditary myopathy with lactic acidosis due to ISCU deficiency' SubClassOf 'Mitochondrial myopathy' 'Hereditary myopathy with lactic acidosis due to ISCU deficiency' SubClassOf 'Metabolic myopathy' http://www.orpha.net/ORDO/Orphanet_31112 Dermatofibrosarcoma protuberans 'Dermatofibrosarcoma protuberans' SubClassOf 'Genetic soft tissue tumor' 'Dermatofibrosarcoma protuberans' SubClassOf 'Genetic skin tumor' 'Dermatofibrosarcoma protuberans' SubClassOf 'fibrosarcoma' 'Dermatofibrosarcoma protuberans' SubClassOf 'genetic skin disease' 'Dermatofibrosarcoma protuberans' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017127 'Dermatofibrosarcoma protuberans' SubClassOf 'Genetic soft tissue tumor' 'Dermatofibrosarcoma protuberans' SubClassOf 'Genetic skin tumor' 'Dermatofibrosarcoma protuberans' SubClassOf 'fibrosarcoma' http://www.orpha.net/ORDO/Orphanet_69739 Athabaskan brainstem dysgenesis syndrome 'Athabaskan brainstem dysgenesis syndrome' SubClassOf 'Syndromic genetic deafness' 'Athabaskan brainstem dysgenesis syndrome' SubClassOf 'autosomal recessive disease' 'Athabaskan brainstem dysgenesis syndrome' SubClassOf 'Rare genetic neurological disorder' 'Athabaskan brainstem dysgenesis syndrome' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_157788 Hypospadias - hypertelorism - coloboma and deafness 'Hypospadias - hypertelorism - coloboma and deafness' SubClassOf 'Syndromic genetic deafness' 'Hypospadias - hypertelorism - coloboma and deafness' SubClassOf 'Rare eye disease due to a differentiation anomaly' 'Hypospadias - hypertelorism - coloboma and deafness' SubClassOf 'Syndromic developmental defect of the eye' 'Hypospadias - hypertelorism - coloboma and deafness' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_69723 Tyrosinemia type 3 'Tyrosinemia type 3' SubClassOf 'tyrosinemia' 'Tyrosinemia type 3' SubClassOf 'Disorder of tyrosine metabolism' http://www.orpha.net/ORDO/Orphanet_314911 Severe Canavan disease 'Severe Canavan disease' SubClassOf 'Canavan disease' 'Severe Canavan disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0010079 http://www.orpha.net/ORDO/Orphanet_157719 Juvenile or adult CACH syndrome 'Juvenile or adult CACH syndrome' SubClassOf 'CACH syndrome' 'Juvenile or adult CACH syndrome' SubClassOf 'CACH syndrome' http://www.orpha.net/ORDO/Orphanet_157716 Late infantile CACH syndrome 'Late infantile CACH syndrome' SubClassOf 'CACH syndrome' 'Late infantile CACH syndrome' SubClassOf 'CACH syndrome' http://www.orpha.net/ORDO/Orphanet_1866 Focal, segmental or multifocal dystonia 'Focal, segmental or multifocal dystonia' SubClassOf 'Isolated dystonia' 'Focal, segmental or multifocal dystonia' SubClassOf 'Isolated dystonia' http://www.orpha.net/ORDO/Orphanet_1867 Bullous dystrophy, macular type 'Bullous dystrophy, macular type' SubClassOf 'X-linked syndromic intellectual disability' 'Bullous dystrophy, macular type' SubClassOf 'genetic skin disease' 'Bullous dystrophy, macular type' SubClassOf 'epidermal disease' 'Bullous dystrophy, macular type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 http://www.orpha.net/ORDO/Orphanet_1864 Congenital valvular dysplasia 'Congenital valvular dysplasia' SubClassOf 'Genetic cardiac anomaly' 'Congenital valvular dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1865 Dyssegmental dysplasia, Silverman-Handmaker type 'Dyssegmental dysplasia, Silverman-Handmaker type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Dyssegmental dysplasia, Silverman-Handmaker type' SubClassOf 'Qualitative or quantitative defects of perlecan' 'Dyssegmental dysplasia, Silverman-Handmaker type' SubClassOf 'Perlecan-related bone disorder' 'Dyssegmental dysplasia, Silverman-Handmaker type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Dyssegmental dysplasia, Silverman-Handmaker type' SubClassOf 'Perlecan-related bone disorder' http://www.orpha.net/ORDO/Orphanet_1860 Thanatophoric dysplasia type 1 'Thanatophoric dysplasia type 1' SubClassOf 'Thanatophoric dysplasia' 'Thanatophoric dysplasia type 1' SubClassOf 'autosomal dominant disease' 'Thanatophoric dysplasia type 1' SubClassOf 'Thanatophoric dysplasia' http://www.orpha.net/ORDO/Orphanet_79107 Developmental malformations - deafness - dystonia 'Developmental malformations - deafness - dystonia' SubClassOf 'Syndromic genetic deafness' 'Developmental malformations - deafness - dystonia' SubClassOf 'Rare genetic dystonia' 'Developmental malformations - deafness - dystonia' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Developmental malformations - deafness - dystonia' SubClassOf 'congenital nervous system disorder' 'Developmental malformations - deafness - dystonia' SubClassOf 'Syndromic genetic deafness' 'Developmental malformations - deafness - dystonia' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_79106 Eiken syndrome 'Eiken syndrome' SubClassOf 'Primary bone dysplasia with defective bone mineralization' 'Eiken syndrome' SubClassOf 'Multiple epiphyseal dysplasia and pseudoachondroplasia' 'Eiken syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79102 Thyrotoxic periodic paralysis 'Thyrotoxic periodic paralysis' SubClassOf 'familial periodic paralysis' 'Thyrotoxic periodic paralysis' SubClassOf 'Genetic peripheral neuropathy' 'Thyrotoxic periodic paralysis' SubClassOf 'periodic paralysis' 'Thyrotoxic periodic paralysis' SubClassOf 'peripheral neuropathy' 'Thyrotoxic periodic paralysis' SubClassOf 'myopathy' http://www.orpha.net/ORDO/Orphanet_1858 Skeletal dysplasia - epilepsy - short stature 'Skeletal dysplasia - epilepsy - short stature' SubClassOf 'syndromic intellectual disability' 'Skeletal dysplasia - epilepsy - short stature' SubClassOf 'congenital nervous system disorder' 'Skeletal dysplasia - epilepsy - short stature' SubClassOf 'congenital limb malformation' http://www.orpha.net/ORDO/Orphanet_79101 Hyperprolinemia type 2 'Hyperprolinemia type 2' SubClassOf 'Cerebral organic aciduria' 'Hyperprolinemia type 2' SubClassOf 'Neurometabolic disease' 'Hyperprolinemia type 2' SubClassOf 'hyperprolinemia' 'Hyperprolinemia type 2' SubClassOf 'Disorder of proline metabolism' 'Hyperprolinemia type 2' SubClassOf 'Neurometabolic disease' http://www.orpha.net/ORDO/Orphanet_79100 Atrophoderma vermiculata 'Atrophoderma vermiculata' SubClassOf 'Keratosis pilaris atrophicans' 'Atrophoderma vermiculata' SubClassOf 'Keratosis pilaris atrophicans' http://www.orpha.net/ORDO/Orphanet_31150 Tangier disease 'Tangier disease' SubClassOf 'Rare hereditary systemic disease with peripheral neuropathy' 'Tangier disease' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' 'Tangier disease' SubClassOf 'Neurometabolic disease' 'Tangier disease' SubClassOf 'Metabolic disease with corneal opacity' 'Tangier disease' SubClassOf 'Hypoalphalipoproteinemia' 'Tangier disease' SubClassOf 'hypolipoproteinemia' 'Tangier disease' SubClassOf 'Genetic peripheral neuropathy' 'Tangier disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_31154 Hypobetalipoproteinemia 'Hypobetalipoproteinemia' SubClassOf 'has modifier' some 'rare' 'Hypobetalipoproteinemia' SubClassOf 'hypolipoproteinemia' http://www.orpha.net/ORDO/Orphanet_1877 Muscular dystrophy - white matter spongiosis 'Muscular dystrophy - white matter spongiosis' SubClassOf 'Genetic skeletal muscle disease' 'Muscular dystrophy - white matter spongiosis' SubClassOf 'Genetic skeletal muscle disease' http://www.orpha.net/ORDO/Orphanet_31153 Hypoalphalipoproteinemia 'Hypoalphalipoproteinemia' SubClassOf 'metabolic disease' 'Hypoalphalipoproteinemia' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_1878 Autosomal recessive limb-girdle muscular dystrophy type 2H 'Autosomal recessive limb-girdle muscular dystrophy type 2H' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2H' SubClassOf 'Qualitative or quantitative defects of TRIM32' 'Autosomal recessive limb-girdle muscular dystrophy type 2H' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2H' SubClassOf 'Qualitative or quantitative defects of TRIM32' http://www.orpha.net/ORDO/Orphanet_1875 Congenital muscular dystrophy - infantile cataract - hypogonadism 'Congenital muscular dystrophy - infantile cataract - hypogonadism' SubClassOf 'Congenital muscular dystrophy' 'Congenital muscular dystrophy - infantile cataract - hypogonadism' SubClassOf 'Congenital muscular dystrophy' http://www.orpha.net/ORDO/Orphanet_1876 Oculogastrointestinal muscular dystrophy 'Oculogastrointestinal muscular dystrophy' SubClassOf 'Eyelids malposition disorder' 'Oculogastrointestinal muscular dystrophy' SubClassOf 'intestinal motility disease' http://www.orpha.net/ORDO/Orphanet_1873 Jalili syndrome 'Jalili syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Jalili syndrome' SubClassOf 'disorder of development or morphogenesis' 'Jalili syndrome' SubClassOf 'has modifier' some 'rare' 'Jalili syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1871 Progressive cone dystrophy 'Progressive cone dystrophy' SubClassOf 'Genetic macular dystrophy' 'Progressive cone dystrophy' SubClassOf 'Genetic macular dystrophy' http://www.orpha.net/ORDO/Orphanet_157713 Congenital or early infantile CACH syndrome 'Congenital or early infantile CACH syndrome' SubClassOf 'CACH syndrome' 'Congenital or early infantile CACH syndrome' SubClassOf 'congenital nervous system disorder' 'Congenital or early infantile CACH syndrome' SubClassOf 'CACH syndrome' http://www.orpha.net/ORDO/Orphanet_1884 Ectopia lentis - chorioretinal dystrophy - myopia 'Ectopia lentis - chorioretinal dystrophy - myopia' SubClassOf 'Lens position anomaly' 'Ectopia lentis - chorioretinal dystrophy - myopia' SubClassOf 'Retinal dystrophy' 'Ectopia lentis - chorioretinal dystrophy - myopia' SubClassOf 'Lens position anomaly' 'Ectopia lentis - chorioretinal dystrophy - myopia' SubClassOf 'Retinal dystrophy' http://www.orpha.net/ORDO/Orphanet_1885 Isolated ectopia lentis 'Isolated ectopia lentis' SubClassOf 'has modifier' some 'has an isolated presentation' 'Isolated ectopia lentis' SubClassOf 'Marfan and Marfan-related disorder' 'Isolated ectopia lentis' EquivalentTo 'Lens position anomaly' and ('has modifier' some 'has an isolated presentation') 'Isolated ectopia lentis' SubClassOf 'Lens position anomaly' 'Isolated ectopia lentis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017310 'Isolated ectopia lentis' SubClassOf 'Lens position anomaly' http://www.orpha.net/ORDO/Orphanet_1882 Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia 'Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia' SubClassOf 'Ectodermal dysplasia syndrome' 'Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia' SubClassOf 'Syndromic hypothyroidism' 'Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia' SubClassOf 'Ectodermal dysplasia syndrome' 'Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia' SubClassOf 'Syndromic hypothyroidism' http://www.orpha.net/ORDO/Orphanet_1883 Ectodermal dysplasia - sensorineural deafness 'Ectodermal dysplasia - sensorineural deafness' SubClassOf 'Ectodermal dysplasia syndrome' 'Ectodermal dysplasia - sensorineural deafness' SubClassOf 'Syndromic genetic deafness' 'Ectodermal dysplasia - sensorineural deafness' SubClassOf 'Ectodermal dysplasia syndrome' 'Ectodermal dysplasia - sensorineural deafness' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_1879 Melorheostosis with osteopoikilosis 'Melorheostosis with osteopoikilosis' SubClassOf 'Buschke-Ollendorff syndrome' 'Melorheostosis with osteopoikilosis' SubClassOf 'Osteopetrosis' http://www.orpha.net/ORDO/Orphanet_1891 Intellectual disability - spasticity - ectrodactyly 'Intellectual disability - spasticity - ectrodactyly' SubClassOf 'congenital nervous system disorder' 'Intellectual disability - spasticity - ectrodactyly' SubClassOf 'syndromic intellectual disability' 'Intellectual disability - spasticity - ectrodactyly' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Intellectual disability - spasticity - ectrodactyly' SubClassOf 'Dysostosis of genetic origin' 'Intellectual disability - spasticity - ectrodactyly' SubClassOf 'congenital limb malformation' http://www.orpha.net/ORDO/Orphanet_1892 Ectrodactyly - polydactyly 'Ectrodactyly - polydactyly' SubClassOf 'congenital limb malformation' 'Ectrodactyly - polydactyly' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_57782 Mazabraud syndrome 'Mazabraud syndrome' SubClassOf 'Soft Tissue Neoplasm' 'Mazabraud syndrome' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Mazabraud syndrome' SubClassOf 'Genetic soft tissue tumor' 'Mazabraud syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1899 Ehlers-Danlos syndrome, arthrochalasic type 'Ehlers-Danlos syndrome, arthrochalasic type' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, arthrochalasic type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020066 http://www.orpha.net/ORDO/Orphanet_1897 EEM syndrome 'EEM syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' 'EEM syndrome' SubClassOf 'congenital nervous system disorder' 'EEM syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'EEM syndrome' SubClassOf 'congenital limb malformation' 'EEM syndrome' SubClassOf 'Genetic macular dystrophy' 'EEM syndrome' SubClassOf 'Dysostosis of genetic origin' 'EEM syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1896 EEC syndrome 'EEC syndrome' SubClassOf 'EEC syndrome and related syndrome' 'EEC syndrome' SubClassOf 'Dysostosis of genetic origin' 'EEC syndrome' SubClassOf 'congenital limb malformation' 'EEC syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'EEC syndrome' SubClassOf 'autosomal dominant disease' 'EEC syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'EEC syndrome' SubClassOf 'Secondary entropion' 'EEC syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'EEC syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' 'EEC syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0005267 serum copper measurement 'serum copper measurement' SubClassOf ('is_about' some 'liver disease') or ('is_about' some 'Wilson disease') 'serum copper measurement' SubClassOf ('is_about' some http://purl.obolibrary.org/obo/MONDO_0010200) or ('is_about' some 'liver disease') http://purl.obolibrary.org/obo/MONDO_0014326 nemaline myopathy 9 'nemaline myopathy 9' SubClassOf 'Intermediate nemaline myopathy' 'nemaline myopathy 9' SubClassOf 'Childhood-onset nemaline myopathy' 'nemaline myopathy 9' SubClassOf 'Severe congenital nemaline myopathy' 'nemaline myopathy 9' SubClassOf 'Typical nemaline myopathy' 'nemaline myopathy 9' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015735 'nemaline myopathy 9' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015737 'nemaline myopathy 9' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015736 'nemaline myopathy 9' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015738 http://purl.obolibrary.org/obo/MONDO_0002358 laryngeal carcinoma 'laryngeal carcinoma' SubClassOf 'carcinoma' 'laryngeal carcinoma' SubClassOf 'Malignant Laryngeal Neoplasm' 'laryngeal carcinoma' SubClassOf 'carcinoma' 'laryngeal carcinoma' SubClassOf 'Malignant Laryngeal Neoplasm' http://purl.obolibrary.org/obo/MONDO_0002354 benign laryngeal neoplasm 'benign laryngeal neoplasm' SubClassOf 'laryngeal neoplasm' 'benign laryngeal neoplasm' SubClassOf 'laryngeal neoplasm' http://purl.obolibrary.org/obo/MONDO_0002355 glottis carcinoma 'glottis carcinoma' SubClassOf 'glottis cancer' 'glottis carcinoma' SubClassOf 'glottis cancer' http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome 'familial nephrotic syndrome' SubClassOf 'nephrotic syndrome' 'familial nephrotic syndrome' SubClassOf 'nephrotic syndrome' http://purl.obolibrary.org/obo/MONDO_0002368 papillary serous cystadenocarcinoma 'papillary serous cystadenocarcinoma' SubClassOf 'serous cystadenocarcinoma' 'papillary serous cystadenocarcinoma' SubClassOf 'serous cystadenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0014349 pontocerebellar hypoplasia type 10 'pontocerebellar hypoplasia type 10' SubClassOf 'Non-syndromic pontocerebellar hypoplasia' 'pontocerebellar hypoplasia type 10' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020135 http://www.ebi.ac.uk/efo/EFO_0005279 temporomandibular joint disorder 'temporomandibular joint disorder' SubClassOf 'head and neck disorder' http://purl.obolibrary.org/obo/MONDO_0014353 immunodeficiency 23 'immunodeficiency 23' SubClassOf 'Disorder of multiple glycosylation' 'immunodeficiency 23' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017749 http://purl.obolibrary.org/obo/MONDO_0014368 melanoma, cutaneous malignant, susceptibility to, 10 'melanoma, cutaneous malignant, susceptibility to, 10' SubClassOf 'Familial melanoma' 'melanoma, cutaneous malignant, susceptibility to, 10' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018961 http://purl.obolibrary.org/obo/MONDO_0014369 postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 'postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome' SubClassOf 'Non-acquired combined pituitary hormone deficiency' 'postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome' SubClassOf 'Dysostosis of genetic origin' 'postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018454 'postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018762 http://purl.obolibrary.org/obo/MONDO_0002398 mucinous adenofibroma 'mucinous adenofibroma' SubClassOf 'Adenofibroma' 'mucinous adenofibroma' SubClassOf 'Adenofibroma' http://www.ebi.ac.uk/efo/EFO_0005297 Granulomatosis with Polyangiitis 'Granulomatosis with Polyangiitis' SubClassOf 'glomerulonephritis' 'Granulomatosis with Polyangiitis' SubClassOf 'glomerulonephritis' http://purl.obolibrary.org/obo/MONDO_0014386 platelet-type bleeding disorder 18 'platelet-type bleeding disorder 18' SubClassOf 'Rare genetic coagulation disorder' 'platelet-type bleeding disorder 18' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021181 http://purl.obolibrary.org/obo/MONDO_0014391 severe combined immunodeficiency due to CTPS1 deficiency 'severe combined immunodeficiency due to CTPS1 deficiency' SubClassOf 'T+ B+ severe combined immunodeficiency' 'severe combined immunodeficiency due to CTPS1 deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044201 http://purl.obolibrary.org/obo/MONDO_0014397 combined oxidative phosphorylation defect type 20 'combined oxidative phosphorylation defect type 20' SubClassOf 'Neurometabolic disease' 'combined oxidative phosphorylation defect type 20' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019058 http://www.orpha.net/ORDO/Orphanet_207107 Qualitative or quantitative defects of TRIM32 'Qualitative or quantitative defects of TRIM32' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of TRIM32' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' http://www.orpha.net/ORDO/Orphanet_207101 Qualitative or quantitative defects of perlecan 'Qualitative or quantitative defects of perlecan' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of perlecan' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' http://www.orpha.net/ORDO/Orphanet_207104 Qualitative or quantitative defects of calpain 'Qualitative or quantitative defects of calpain' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of calpain' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' http://www.orpha.net/ORDO/Orphanet_207119 Qualitative or quantitative defects of FKRP 'Qualitative or quantitative defects of FKRP' SubClassOf 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' 'Qualitative or quantitative defects of FKRP' SubClassOf 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' http://www.orpha.net/ORDO/Orphanet_207113 Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' SubClassOf 'Disorder of protein O-glycosylation' 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' SubClassOf 'congenital nervous system disorder' 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' SubClassOf 'Qualitative or quantitative defects of alpha-dystroglycan' 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' SubClassOf 'Qualitative or quantitative defects of alpha-dystroglycan' http://www.orpha.net/ORDO/Orphanet_207110 Qualitative or quantitative defects of myotubularin 'Qualitative or quantitative defects of myotubularin' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of myotubularin' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' http://www.orpha.net/ORDO/Orphanet_207122 Qualitative or quantitative defects of fukutin 'Qualitative or quantitative defects of fukutin' SubClassOf 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' 'Qualitative or quantitative defects of fukutin' SubClassOf 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' http://www.orpha.net/ORDO/Orphanet_281082 Inherited non-syndromic ichthyosis 'Inherited non-syndromic ichthyosis' SubClassOf 'has modifier' some 'has an isolated presentation' 'Inherited non-syndromic ichthyosis' EquivalentTo 'Inherited ichthyosis' and ('has modifier' some 'has an isolated presentation') 'Inherited non-syndromic ichthyosis' SubClassOf 'Inherited ichthyosis' 'Inherited non-syndromic ichthyosis' SubClassOf 'Inherited ichthyosis' http://www.orpha.net/ORDO/Orphanet_281085 Inherited ichthyosis syndromic form 'Inherited ichthyosis syndromic form' SubClassOf 'Inherited ichthyosis' 'Inherited ichthyosis syndromic form' EquivalentTo 'Inherited ichthyosis' and ('has modifier' some 'has a syndromic presentation') 'Inherited ichthyosis syndromic form' SubClassOf 'syndromic disease' 'Inherited ichthyosis syndromic form' SubClassOf 'Inherited ichthyosis' http://www.orpha.net/ORDO/Orphanet_90625 X-linked non-syndromic sensorineural deafness type DFN 'X-linked non-syndromic sensorineural deafness type DFN' SubClassOf 'Postlingual non-syndromic genetic deafness' 'X-linked non-syndromic sensorineural deafness type DFN' SubClassOf 'Prelingual non-syndromic genetic deafness' 'X-linked non-syndromic sensorineural deafness type DFN' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_281090 Syndromic X-linked ichthyosis 'Syndromic X-linked ichthyosis' SubClassOf 'X-linked ichthyosis syndrome' 'Syndromic X-linked ichthyosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_281097 Autosomal recessive congenital ichthyosis 'Autosomal recessive congenital ichthyosis' SubClassOf 'has modifier' some 'congenital' 'Autosomal recessive congenital ichthyosis' SubClassOf 'autosomal recessive disease' http://www.orpha.net/ORDO/Orphanet_90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' SubClassOf 'Postlingual non-syndromic genetic deafness' 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' SubClassOf 'Prelingual non-syndromic genetic deafness' 'Autosomal recessive non-syndromic sensorineural deafness type DFNB' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' SubClassOf 'Postlingual non-syndromic genetic deafness' 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' SubClassOf 'Prelingual non-syndromic genetic deafness' 'Autosomal dominant non-syndromic sensorineural deafness type DFNA' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_163931 Acrodermatitis continua suppurativa of Hallopeau 'Acrodermatitis continua suppurativa of Hallopeau' SubClassOf 'Unclassified genetic skin disorder' 'Acrodermatitis continua suppurativa of Hallopeau' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_163937 X-linked intellectual disability, Najm type 'X-linked intellectual disability, Najm type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Najm type' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'X-linked intellectual disability, Najm type' SubClassOf 'central nervous system malformation' 'X-linked intellectual disability, Najm type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 http://www.orpha.net/ORDO/Orphanet_90642 Syndromic genetic deafness 'Syndromic genetic deafness' SubClassOf 'hearing loss' 'Syndromic genetic deafness' SubClassOf 'syndromic disease' 'Syndromic genetic deafness' SubClassOf 'developmental defect during embryogenesis' 'Syndromic genetic deafness' EquivalentTo 'hearing loss' and ('has modifier' some 'has a syndromic presentation') and ('has modifier' some 'inherited') http://www.orpha.net/ORDO/Orphanet_90641 Mitochondrial non-syndromic sensorineural deafness 'Mitochondrial non-syndromic sensorineural deafness' SubClassOf 'Mitochondrial oxidative phosphorylation disorder' 'Mitochondrial non-syndromic sensorineural deafness' SubClassOf 'Postlingual non-syndromic genetic deafness' 'Mitochondrial non-syndromic sensorineural deafness' SubClassOf 'Prelingual non-syndromic genetic deafness' 'Mitochondrial non-syndromic sensorineural deafness' SubClassOf 'Postlingual non-syndromic genetic deafness' 'Mitochondrial non-syndromic sensorineural deafness' SubClassOf 'Prelingual non-syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_90647 Jervell and Lange-Nielsen syndrome 'Jervell and Lange-Nielsen syndrome' SubClassOf 'Familial long QT syndrome' 'Jervell and Lange-Nielsen syndrome' SubClassOf 'Syndromic genetic deafness' 'Jervell and Lange-Nielsen syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_90646 Deafness - hypogonadism 'Deafness - hypogonadism' SubClassOf 'Syndromic genetic deafness' 'Deafness - hypogonadism' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_163927 Pustulosis palmaris et plantaris 'Pustulosis palmaris et plantaris' SubClassOf 'epidermal disease' 'Pustulosis palmaris et plantaris' SubClassOf 'dermatitis' 'Pustulosis palmaris et plantaris' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_364028 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 'congenital nervous system disorder' 'X-linked intellectual disability due to GRIA3 anomalies' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability due to GRIA3 anomalies' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_391646 Feingold syndrome type 2 'Feingold syndrome type 2' SubClassOf 'Feingold syndrome' 'Feingold syndrome type 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_53689 Congenital chloride diarrhea 'Congenital chloride diarrhea' SubClassOf 'congenital secretory diarrhea' 'Congenital chloride diarrhea' SubClassOf 'Congenital intestinal transport defect' 'Congenital chloride diarrhea' SubClassOf 'Congenital intestinal transport defect' http://www.orpha.net/ORDO/Orphanet_53698 Hyaline body myopathy 'Hyaline body myopathy' SubClassOf 'congenital nervous system disorder' 'Hyaline body myopathy' SubClassOf 'Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)' 'Hyaline body myopathy' SubClassOf 'Congenital myopathy' 'Hyaline body myopathy' SubClassOf 'Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)' 'Hyaline body myopathy' SubClassOf 'Congenital myopathy' http://www.orpha.net/ORDO/Orphanet_53696 Lethal arthrogryposis - anterior horn cell disease 'Lethal arthrogryposis - anterior horn cell disease' SubClassOf 'Arthrogryposis multiplex congenita' 'Lethal arthrogryposis - anterior horn cell disease' SubClassOf 'Arthrogryposis multiplex congenita' http://www.orpha.net/ORDO/Orphanet_53697 Gnathodiaphyseal dysplasia 'Gnathodiaphyseal dysplasia' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_53693 GRACILE syndrome 'GRACILE syndrome' SubClassOf 'Mitochondrial disease' 'GRACILE syndrome' SubClassOf 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' 'GRACILE syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_53690 Congenital lactase deficiency 'Congenital lactase deficiency' SubClassOf 'has modifier' some 'congenital' 'Congenital lactase deficiency' SubClassOf 'Disorder of carbohydrate absorption and transport' 'Congenital lactase deficiency' SubClassOf 'Disorder of carbohydrate absorption and transport' http://www.orpha.net/ORDO/Orphanet_53691 Congenital cornea plana 'Congenital cornea plana' SubClassOf 'cornea plana' 'Congenital cornea plana' SubClassOf 'has modifier' some 'congenital' 'Congenital cornea plana' SubClassOf 'corneal disease' http://www.orpha.net/ORDO/Orphanet_65683 Isolated focal cortical dysplasia 'Isolated focal cortical dysplasia' SubClassOf 'overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes' 'Isolated focal cortical dysplasia' SubClassOf 'Cerebral cortical dysplasia' 'Isolated focal cortical dysplasia' SubClassOf 'Cerebral cortical dysplasia' http://www.orpha.net/ORDO/Orphanet_65682 Benign recurrent intrahepatic cholestasis 'Benign recurrent intrahepatic cholestasis' SubClassOf 'Familial intrahepatic cholestasis' 'Benign recurrent intrahepatic cholestasis' SubClassOf 'Disorder of bilirubin metabolism and excretion' 'Benign recurrent intrahepatic cholestasis' SubClassOf 'Familial intrahepatic cholestasis' 'Benign recurrent intrahepatic cholestasis' SubClassOf 'Disorder of bilirubin metabolism and excretion' http://www.orpha.net/ORDO/Orphanet_364055 Severe early-childhood-onset retinal dystrophy 'Severe early-childhood-onset retinal dystrophy' SubClassOf 'Stargardt disease' 'Severe early-childhood-onset retinal dystrophy' SubClassOf 'Retinal dystrophy' http://www.orpha.net/ORDO/Orphanet_391641 Feingold syndrome type 1 'Feingold syndrome type 1' SubClassOf 'Feingold syndrome' 'Feingold syndrome type 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_90695 Panhypopituitarism 'Panhypopituitarism' SubClassOf 'Combined pituitary hormone deficiencies, genetic forms' 'Panhypopituitarism' SubClassOf 'Hypogonadotropic hypogonadism associated with other endocrinopathies' 'Panhypopituitarism' SubClassOf 'Non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations' http://www.orpha.net/ORDO/Orphanet_99046 Double outlet right ventricle with non-committed subpulmonary ventricular septal defect 'Double outlet right ventricle with non-committed subpulmonary ventricular septal defect' SubClassOf 'Double outlet right ventricle' 'Double outlet right ventricle with non-committed subpulmonary ventricular septal defect' SubClassOf 'Double outlet right ventricle' http://www.orpha.net/ORDO/Orphanet_99045 Double outlet right ventricle with subpulmonary ventricular septal defect 'Double outlet right ventricle with subpulmonary ventricular septal defect' SubClassOf 'Double outlet right ventricle' 'Double outlet right ventricle with subpulmonary ventricular septal defect' SubClassOf 'Double outlet right ventricle' http://www.orpha.net/ORDO/Orphanet_99042 Congenitally uncorrected transposition of the great arteries with coarctation 'Congenitally uncorrected transposition of the great arteries with coarctation' SubClassOf 'Congenitally uncorrected transposition of the great arteries' 'Congenitally uncorrected transposition of the great arteries with coarctation' SubClassOf 'has modifier' some 'congenital' 'Congenitally uncorrected transposition of the great arteries with coarctation' SubClassOf 'Congenitally uncorrected transposition of the great arteries' http://www.orpha.net/ORDO/Orphanet_99043 Double outlet right ventricle, Fallot type 'Double outlet right ventricle, Fallot type' SubClassOf 'Double outlet right ventricle' 'Double outlet right ventricle, Fallot type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0002402 malignant giant cell tumor 'malignant giant cell tumor' SubClassOf 'giant cell tumor' 'malignant giant cell tumor' SubClassOf 'giant cell tumor' http://purl.obolibrary.org/obo/MONDO_0002408 hereditary hyperbilirubinemia 'hereditary hyperbilirubinemia' SubClassOf 'Disorder of bilirubin metabolism and excretion' 'hereditary hyperbilirubinemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017755 http://www.orpha.net/ORDO/Orphanet_51084 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 'Genetic cardiac rhythm disease' http://www.orpha.net/ORDO/Orphanet_51083 Familial short QT syndrome 'Familial short QT syndrome' SubClassOf 'heart conduction disease' http://purl.obolibrary.org/obo/MONDO_0002423 rectosigmoid junction neoplasm 'rectosigmoid junction neoplasm' SubClassOf 'sigmoid neoplasm' 'rectosigmoid junction neoplasm' SubClassOf 'sigmoid neoplasm' http://www.orpha.net/ORDO/Orphanet_90654 Stickler syndrome type 2 'Stickler syndrome type 2' SubClassOf 'Stickler syndrome' 'Stickler syndrome type 2' SubClassOf 'Type 11 collagen-related bone disorder' 'Stickler syndrome type 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_90653 Stickler syndrome type 1 'Stickler syndrome type 1' SubClassOf 'Type 2 collagen-related bone disorder' 'Stickler syndrome type 1' SubClassOf 'hereditary disorder of connective tissue' 'Stickler syndrome type 1' SubClassOf 'Stickler syndrome' 'Stickler syndrome type 1' SubClassOf 'type 2 collagenopathy' 'Stickler syndrome type 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_90650 Otopalatodigital syndrome type 1 'Otopalatodigital syndrome type 1' SubClassOf 'Otopalatodigital syndrome' 'Otopalatodigital syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019027 http://www.orpha.net/ORDO/Orphanet_90652 Otopalatodigital syndrome type 2 'Otopalatodigital syndrome type 2' SubClassOf 'Otopalatodigital syndrome' 'Otopalatodigital syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019027 http://www.orpha.net/ORDO/Orphanet_90658 Charcot-Marie-Tooth disease type 1E 'Charcot-Marie-Tooth disease type 1E' SubClassOf 'Syndromic genetic deafness' 'Charcot-Marie-Tooth disease type 1E' SubClassOf 'Charcot-Marie-Tooth disease type 1' 'Charcot-Marie-Tooth disease type 1E' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0014418 myopathy, centronuclear, 5 'myopathy, centronuclear, 5' SubClassOf 'Autosomal recessive centronuclear myopathy' 'myopathy, centronuclear, 5' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015705 http://www.orpha.net/ORDO/Orphanet_99002 Reticular dystrophy of the retinal pigment epithelium 'Reticular dystrophy of the retinal pigment epithelium' SubClassOf 'Patterned dystrophy of the retinal pigment epithelium' 'Reticular dystrophy of the retinal pigment epithelium' SubClassOf 'Patterned dystrophy of the retinal pigment epithelium' http://www.orpha.net/ORDO/Orphanet_99001 Butterfly-shaped pigment dystrophy 'Butterfly-shaped pigment dystrophy' SubClassOf 'macular degeneration' 'Butterfly-shaped pigment dystrophy' SubClassOf 'Patterned dystrophy of the retinal pigment epithelium' 'Butterfly-shaped pigment dystrophy' SubClassOf 'Patterned dystrophy of the retinal pigment epithelium' http://www.orpha.net/ORDO/Orphanet_99004 Fundus pulverulentus 'Fundus pulverulentus' SubClassOf 'Patterned dystrophy of the retinal pigment epithelium' 'Fundus pulverulentus' SubClassOf 'Patterned dystrophy of the retinal pigment epithelium' http://www.orpha.net/ORDO/Orphanet_99003 Multifocal pattern dystrophy simulating fundus flavimaculatus 'Multifocal pattern dystrophy simulating fundus flavimaculatus' SubClassOf 'Patterned dystrophy of the retinal pigment epithelium' 'Multifocal pattern dystrophy simulating fundus flavimaculatus' SubClassOf 'Patterned dystrophy of the retinal pigment epithelium' http://www.orpha.net/ORDO/Orphanet_99000 Adult-onset foveomacular vitelliform dystrophy 'Adult-onset foveomacular vitelliform dystrophy' SubClassOf 'vitelliform macular dystrophy' 'Adult-onset foveomacular vitelliform dystrophy' SubClassOf 'Genetic macular dystrophy' http://www.ebi.ac.uk/efo/EFO_0005242 methamphetamine-induced psychosis 'methamphetamine-induced psychosis' SubClassOf 'psychosis' 'methamphetamine-induced psychosis' SubClassOf 'psychosis' http://www.orpha.net/ORDO/Orphanet_90674 Isolated thyroid-stimulating hormone deficiency 'Isolated thyroid-stimulating hormone deficiency' SubClassOf 'hypothyroidism, congenital, nongoitrous' 'Isolated thyroid-stimulating hormone deficiency' SubClassOf 'Central congenital hypothyroidism' 'Isolated thyroid-stimulating hormone deficiency' SubClassOf 'Non-acquired pituitary hormone deficiency' 'Isolated thyroid-stimulating hormone deficiency' SubClassOf 'Central congenital hypothyroidism' 'Isolated thyroid-stimulating hormone deficiency' SubClassOf 'Non-acquired pituitary hormone deficiency' http://www.orpha.net/ORDO/Orphanet_90673 Hypothyroidism due to TSH receptor mutations 'Hypothyroidism due to TSH receptor mutations' SubClassOf 'hypothyroidism, congenital, nongoitrous' http://www.orpha.net/ORDO/Orphanet_99013 Autosomal recessive spastic paraplegia type 7 'Autosomal recessive spastic paraplegia type 7' SubClassOf 'eye degenerative disorder' 'Autosomal recessive spastic paraplegia type 7' SubClassOf 'hereditary ataxia' 'Autosomal recessive spastic paraplegia type 7' SubClassOf 'facial paralysis' 'Autosomal recessive spastic paraplegia type 7' SubClassOf 'syndromic hereditary optic neuropathy' 'Autosomal recessive spastic paraplegia type 7' SubClassOf 'Complex hereditary spastic paraplegia' 'Autosomal recessive spastic paraplegia type 7' SubClassOf 'Autosomal recessive syndromic optic atrophy' 'Autosomal recessive spastic paraplegia type 7' SubClassOf 'Pure or complex autosomal recessive spastic paraplegia' 'Autosomal recessive spastic paraplegia type 7' SubClassOf 'syndromic hereditary optic neuropathy' 'Autosomal recessive spastic paraplegia type 7' SubClassOf 'Pure or complex autosomal recessive spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_99012 Autosomal recessive optic atrophy, OPA6 type 'Autosomal recessive optic atrophy, OPA6 type' SubClassOf 'Autosomal recessive isolated optic atrophy' 'Autosomal recessive optic atrophy, OPA6 type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99015 Spastic paraplegia type 2 'Spastic paraplegia type 2' SubClassOf 'Complex hereditary spastic paraplegia' 'Spastic paraplegia type 2' SubClassOf 'eye degenerative disorder' 'Spastic paraplegia type 2' SubClassOf 'facial paralysis' 'Spastic paraplegia type 2' SubClassOf 'syndromic hereditary optic neuropathy' 'Spastic paraplegia type 2' SubClassOf 'Leukodystrophy' 'Spastic paraplegia type 2' SubClassOf 'Pure or complex X-linked spastic paraplegia' 'Spastic paraplegia type 2' SubClassOf 'X-linked recessive optic atrophy' 'Spastic paraplegia type 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020249 'Spastic paraplegia type 2' SubClassOf 'Pure or complex X-linked spastic paraplegia' 'Spastic paraplegia type 2' SubClassOf 'Leukodystrophy' http://www.orpha.net/ORDO/Orphanet_99014 X-linked Charcot-Marie-Tooth disease type 5 'X-linked Charcot-Marie-Tooth disease type 5' SubClassOf 'Developmental anomaly of metabolic origin' 'X-linked Charcot-Marie-Tooth disease type 5' SubClassOf 'X-linked Charcot-Marie-Tooth disease' 'X-linked Charcot-Marie-Tooth disease type 5' SubClassOf 'X-linked recessive optic atrophy' 'X-linked Charcot-Marie-Tooth disease type 5' SubClassOf 'syndromic hereditary optic neuropathy' 'X-linked Charcot-Marie-Tooth disease type 5' SubClassOf 'Disorder of purine metabolism' 'X-linked Charcot-Marie-Tooth disease type 5' SubClassOf 'X-linked Charcot-Marie-Tooth disease' 'X-linked Charcot-Marie-Tooth disease type 5' SubClassOf 'syndromic hereditary optic neuropathy' 'X-linked Charcot-Marie-Tooth disease type 5' SubClassOf 'Disorder of purine metabolism' http://www.ebi.ac.uk/efo/EFO_0005232 endometrium adenocarcinoma 'endometrium adenocarcinoma' SubClassOf 'adenocarcinoma' 'endometrium adenocarcinoma' SubClassOf 'endometrial carcinoma' 'endometrium adenocarcinoma' SubClassOf 'adenocarcinoma' 'endometrium adenocarcinoma' SubClassOf 'endometrial carcinoma' http://www.orpha.net/ORDO/Orphanet_99027 Adult-onset autosomal dominant leukodystrophy 'Adult-onset autosomal dominant leukodystrophy' SubClassOf 'Leukodystrophy' 'Adult-onset autosomal dominant leukodystrophy' SubClassOf 'Partial trisomy of the long arm of chromosome 5' 'Adult-onset autosomal dominant leukodystrophy' SubClassOf 'Abnormal eye movements' 'Adult-onset autosomal dominant leukodystrophy' SubClassOf 'laminopathy' 'Adult-onset autosomal dominant leukodystrophy' SubClassOf 'Leukodystrophy' 'Adult-onset autosomal dominant leukodystrophy' SubClassOf 'Partial trisomy of the long arm of chromosome 5' 'Adult-onset autosomal dominant leukodystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015368 http://www.orpha.net/ORDO/Orphanet_99022 Niemann-Pick disease type E 'Niemann-Pick disease type E' SubClassOf 'Niemann-Pick disease' 'Niemann-Pick disease type E' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0004884 eye degenerative disorder 'eye degenerative disorder' SubClassOf 'neurodegenerative disease' 'eye degenerative disorder' SubClassOf 'neurodegenerative disease' http://purl.obolibrary.org/obo/MONDO_0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency 'severe early-onset pulmonary alveolar proteinosis due to MARS deficiency' SubClassOf 'Congenital pulmonary alveolar proteinosis' 'severe early-onset pulmonary alveolar proteinosis due to MARS deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0012580 http://purl.obolibrary.org/obo/MONDO_0002229 ovarian epithelial tumor 'ovarian epithelial tumor' SubClassOf 'epithelial neoplasm' 'ovarian epithelial tumor' SubClassOf 'epithelial neoplasm' http://purl.obolibrary.org/obo/HP_0009130 Hand muscle atrophy 'Hand muscle atrophy' SubClassOf 'Abnormality of muscle size' 'Hand muscle atrophy' SubClassOf http://purl.obolibrary.org/obo/HP_0003202 http://www.ebi.ac.uk/efo/EFO_0005139 serum ceruloplasmin measurement 'serum ceruloplasmin measurement' SubClassOf 'is_about' some 'Wilson disease' 'serum ceruloplasmin measurement' SubClassOf 'is_about' some http://purl.obolibrary.org/obo/MONDO_0010200 http://www.orpha.net/ORDO/Orphanet_207049 Qualitative or quantitative protein defects in neuromuscular diseases 'Qualitative or quantitative protein defects in neuromuscular diseases' SubClassOf 'Rare genetic neurological disorder' http://purl.obolibrary.org/obo/MONDO_0002258 pharyngitis 'pharyngitis' SubClassOf 'head and neck disorder' http://purl.obolibrary.org/obo/MONDO_0002254 syndromic disease 'syndromic disease' DisjointWith 'Polydactyly' 'syndromic disease' DisjointWith 'Syndactyly' 'syndromic disease' DisjointWith http://purl.obolibrary.org/obo/MONDO_0011348 'syndromic disease' DisjointWith http://purl.obolibrary.org/obo/MONDO_0019530 http://www.orpha.net/ORDO/Orphanet_207052 Qualitative or quantitative defects of sarcoglycan 'Qualitative or quantitative defects of sarcoglycan' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of sarcoglycan' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' http://www.orpha.net/ORDO/Orphanet_207067 Qualitative or quantitative defects of gamma-sarcoglycan 'Qualitative or quantitative defects of gamma-sarcoglycan' SubClassOf 'Qualitative or quantitative defects of sarcoglycan' 'Qualitative or quantitative defects of gamma-sarcoglycan' SubClassOf 'Qualitative or quantitative defects of sarcoglycan' http://www.orpha.net/ORDO/Orphanet_207060 Qualitative or quantitative defects of alpha-sarcoglycan 'Qualitative or quantitative defects of alpha-sarcoglycan' SubClassOf 'Qualitative or quantitative defects of sarcoglycan' 'Qualitative or quantitative defects of alpha-sarcoglycan' SubClassOf 'Qualitative or quantitative defects of sarcoglycan' http://www.orpha.net/ORDO/Orphanet_207063 Qualitative or quantitative defects of beta-sarcoglycan 'Qualitative or quantitative defects of beta-sarcoglycan' SubClassOf 'Qualitative or quantitative defects of sarcoglycan' 'Qualitative or quantitative defects of beta-sarcoglycan' SubClassOf 'Qualitative or quantitative defects of sarcoglycan' http://purl.obolibrary.org/obo/MONDO_0002279 iron metabolism disease 'iron metabolism disease' SubClassOf 'mineral metabolism disease' 'iron metabolism disease' SubClassOf 'mineral metabolism disease' http://purl.obolibrary.org/obo/MONDO_0002273 plasma protein metabolism disease 'plasma protein metabolism disease' SubClassOf 'Inborn errors of metabolism' 'plasma protein metabolism disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019052 http://www.orpha.net/ORDO/Orphanet_207070 Qualitative or quantitative defects of delta-sarcoglycan 'Qualitative or quantitative defects of delta-sarcoglycan' SubClassOf 'Qualitative or quantitative defects of sarcoglycan' 'Qualitative or quantitative defects of delta-sarcoglycan' SubClassOf 'Qualitative or quantitative defects of sarcoglycan' http://www.orpha.net/ORDO/Orphanet_207078 Qualitative or quantitative defects of caveolin-3 'Qualitative or quantitative defects of caveolin-3' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of caveolin-3' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' http://purl.obolibrary.org/obo/MONDO_0014252 familial hypobetalipoproteinemia 1 'familial hypobetalipoproteinemia 1' SubClassOf 'Hypobetalipoproteinemia' 'familial hypobetalipoproteinemia 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017774 http://www.orpha.net/ORDO/Orphanet_207073 Qualitative or quantitative defects of dysferlin 'Qualitative or quantitative defects of dysferlin' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of dysferlin' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' http://purl.obolibrary.org/obo/MONDO_0014260 immunodeficiency, common variable, 10 'immunodeficiency, common variable, 10' SubClassOf 'Common variable immunodeficiency' 'immunodeficiency, common variable, 10' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015517 http://purl.obolibrary.org/obo/MONDO_0014263 8q24.3 microdeletion syndrome '8q24.3 microdeletion syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' '8q24.3 microdeletion syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '8q24.3 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 8' '8q24.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015159 '8q24.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043005 '8q24.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019721 '8q24.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016907 http://www.orpha.net/ORDO/Orphanet_207085 Qualitative or quantitative defects of dystrophin 'Qualitative or quantitative defects of dystrophin' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of dystrophin' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' http://purl.obolibrary.org/obo/MONDO_0002297 epidermal appendage tumor 'epidermal appendage tumor' SubClassOf 'skin neoplasm' 'epidermal appendage tumor' SubClassOf 'skin neoplasm' http://purl.obolibrary.org/obo/MONDO_0014278 immunodeficiency 18 'immunodeficiency 18' SubClassOf 'T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta' 'immunodeficiency 18' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015703 http://www.orpha.net/ORDO/Orphanet_207098 Qualitative or quantitative defects of integrin alpha-7 'Qualitative or quantitative defects of integrin alpha-7' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of integrin alpha-7' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' http://www.orpha.net/ORDO/Orphanet_207094 Qualitative or quantitative defects of merosin 'Qualitative or quantitative defects of merosin' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of merosin' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' http://www.orpha.net/ORDO/Orphanet_364063 Infantile epileptic-dyskinetic encephalopathy 'Infantile epileptic-dyskinetic encephalopathy' SubClassOf 'ARX-related epileptic encephalopathy' 'Infantile epileptic-dyskinetic encephalopathy' SubClassOf 'Persistent combined dystonia' 'Infantile epileptic-dyskinetic encephalopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015921 'Infantile epileptic-dyskinetic encephalopathy' SubClassOf 'Persistent combined dystonia' http://purl.obolibrary.org/obo/MONDO_0014284 short-rib thoracic dysplasia 10 with or without polydactyly 'short-rib thoracic dysplasia 10 with or without polydactyly' SubClassOf 'Jeune syndrome' 'short-rib thoracic dysplasia 10 with or without polydactyly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018770 http://www.orpha.net/ORDO/Orphanet_163746 Neurologic Waardenburg-Shah syndrome 'Neurologic Waardenburg-Shah syndrome' SubClassOf 'Leukodystrophy' 'Neurologic Waardenburg-Shah syndrome' SubClassOf 'intestinal motility disease' 'Neurologic Waardenburg-Shah syndrome' SubClassOf 'autosomal dominant disease' 'Neurologic Waardenburg-Shah syndrome' SubClassOf 'eye degenerative disorder' 'Neurologic Waardenburg-Shah syndrome' SubClassOf 'Genetic peripheral neuropathy' 'Neurologic Waardenburg-Shah syndrome' SubClassOf 'Genetic hypopigmentation of the skin' 'Neurologic Waardenburg-Shah syndrome' SubClassOf 'Syndromic genetic deafness' 'Neurologic Waardenburg-Shah syndrome' SubClassOf 'Leukodystrophy' 'Neurologic Waardenburg-Shah syndrome' SubClassOf 'Genetic peripheral neuropathy' 'Neurologic Waardenburg-Shah syndrome' SubClassOf 'Genetic hypopigmentation of the skin' 'Neurologic Waardenburg-Shah syndrome' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_391665 Homozygous familial hypercholesterolemia 'Homozygous familial hypercholesterolemia' SubClassOf 'familial hypercholesterolemia' 'Homozygous familial hypercholesterolemia' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_391677 Short stature-optic atrophy-Pelger-Huët anomaly syndrome 'Short stature-optic atrophy-Pelger-Huët anomaly syndrome' SubClassOf 'disorder of development or morphogenesis' 'Short stature-optic atrophy-Pelger-Huët anomaly syndrome' SubClassOf 'syndromic hereditary optic neuropathy' 'Short stature-optic atrophy-Pelger-Huët anomaly syndrome' SubClassOf 'Autosomal recessive syndromic optic atrophy' 'Short stature-optic atrophy-Pelger-Huët anomaly syndrome' SubClassOf 'syndromic hereditary optic neuropathy' http://www.orpha.net/ORDO/Orphanet_163721 Rolandic epilepsy - speech dyspraxia 'Rolandic epilepsy - speech dyspraxia' SubClassOf 'X-linked syndromic intellectual disability' 'Rolandic epilepsy - speech dyspraxia' SubClassOf 'Childhood-onset epilepsy syndrome' 'Rolandic epilepsy - speech dyspraxia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 'Rolandic epilepsy - speech dyspraxia' SubClassOf 'Childhood-onset epilepsy syndrome' http://www.orpha.net/ORDO/Orphanet_163717 Benign familial mesial temporal lobe epilepsy 'Benign familial mesial temporal lobe epilepsy' SubClassOf 'Familial partial epilepsy' 'Benign familial mesial temporal lobe epilepsy' SubClassOf 'Familial partial epilepsy' http://www.orpha.net/ORDO/Orphanet_163708 Cryptogenic late-onset epileptic spasms 'Cryptogenic late-onset epileptic spasms' SubClassOf 'Childhood-onset epilepsy syndrome' 'Cryptogenic late-onset epileptic spasms' SubClassOf 'Childhood-onset epilepsy syndrome' http://www.orpha.net/ORDO/Orphanet_222628 Hereditary poikiloderma 'Hereditary poikiloderma' SubClassOf 'epidermal disease' 'Hereditary poikiloderma' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_163727 Rolandic epilepsy - paroxysmal exercise-induced dystonia - writer's cramp 'Rolandic epilepsy - paroxysmal exercise-induced dystonia - writer's cramp' SubClassOf 'Childhood-onset epilepsy syndrome' 'Rolandic epilepsy - paroxysmal exercise-induced dystonia - writer's cramp' SubClassOf 'Childhood-onset epilepsy syndrome' http://www.orpha.net/ORDO/Orphanet_391711 Persistent combined dystonia 'Persistent combined dystonia' SubClassOf 'Combined dystonia' 'Persistent combined dystonia' SubClassOf 'Combined dystonia' http://www.orpha.net/ORDO/Orphanet_53540 Goldmann-Favre syndrome 'Goldmann-Favre syndrome' SubClassOf 'Vitreoretinal degeneration' 'Goldmann-Favre syndrome' SubClassOf 'Unclassified primitive or secondary maculopathy' 'Goldmann-Favre syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity 'Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity' SubClassOf 'Paroxysmal dystonia' 'Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity' SubClassOf 'Paroxysmal dystonia' http://purl.obolibrary.org/obo/MONDO_0004917 internal hordeolum 'internal hordeolum' SubClassOf 'hordeolum' 'internal hordeolum' SubClassOf 'hordeolum' http://purl.obolibrary.org/obo/MONDO_0004933 hypoplastic left heart syndrome 'hypoplastic left heart syndrome' SubClassOf 'syndromic disease' 'hypoplastic left heart syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0004951 susceptibility to HIV infection 'susceptibility to HIV infection' EquivalentTo 'Genetic susceptibility to infections due to particular pathogens' and ('predisposes towards' some 'HIV infection') 'susceptibility to HIV infection' SubClassOf 'Genetic susceptibility to infections due to particular pathogens' 'susceptibility to HIV infection' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0015979 and ('predisposes towards' some 'HIV infection') 'susceptibility to HIV infection' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015979 http://purl.obolibrary.org/obo/MONDO_0004976 amyotrophic lateral sclerosis 'amyotrophic lateral sclerosis' SubClassOf 'anterior horn disorder' 'amyotrophic lateral sclerosis' SubClassOf 'motor neuron disease' 'amyotrophic lateral sclerosis' SubClassOf 'anterior horn disorder' 'amyotrophic lateral sclerosis' SubClassOf 'motor neuron disease' http://purl.obolibrary.org/obo/MONDO_0002316 motor peripheral neuropathy 'motor peripheral neuropathy' SubClassOf 'peripheral neuropathy' 'motor peripheral neuropathy' SubClassOf 'peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0002319 phosphorus metabolism disease 'phosphorus metabolism disease' SubClassOf 'mineral metabolism disease' 'phosphorus metabolism disease' SubClassOf 'mineral metabolism disease' http://purl.obolibrary.org/obo/MONDO_0004986 urinary bladder carcinoma 'urinary bladder carcinoma' SubClassOf 'urinary bladder cancer' 'urinary bladder carcinoma' SubClassOf 'carcinoma' 'urinary bladder carcinoma' SubClassOf 'urinary bladder cancer' 'urinary bladder carcinoma' SubClassOf 'carcinoma' http://purl.obolibrary.org/obo/MONDO_0002321 sensory peripheral neuropathy 'sensory peripheral neuropathy' SubClassOf 'peripheral neuropathy' 'sensory peripheral neuropathy' SubClassOf 'peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0002336 inflammatory and toxic neuropathy 'inflammatory and toxic neuropathy' SubClassOf 'peripheral neuropathy' 'inflammatory and toxic neuropathy' SubClassOf 'peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0002337 intra-abdominal hemangioma 'intra-abdominal hemangioma' SubClassOf 'abdominal and pelvic region disorder' http://purl.obolibrary.org/obo/MONDO_0002334 hematopoietic and lymphoid system neoplasm 'hematopoietic and lymphoid system neoplasm' SubClassOf 'neoplasm' 'hematopoietic and lymphoid system neoplasm' SubClassOf 'neoplasm' http://purl.obolibrary.org/obo/MONDO_0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity 'autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity' SubClassOf 'Primary immunodeficiency due to a defect in innate immunity' 'autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015135 http://purl.obolibrary.org/obo/MONDO_0016974 thymoma type B 'thymoma type B' SubClassOf 'Thymoma' 'thymoma type B' SubClassOf 'Thymoma' http://purl.obolibrary.org/obo/MONDO_0004768 keratoconjunctivitis 'keratoconjunctivitis' SubClassOf 'keratitis' 'keratoconjunctivitis' SubClassOf 'keratitis' http://purl.obolibrary.org/obo/MONDO_0002100 cardiovascular cancer 'cardiovascular cancer' SubClassOf 'cardiovascular neoplasm' 'cardiovascular cancer' SubClassOf 'cancer' 'cardiovascular cancer' SubClassOf 'cardiovascular neoplasm' 'cardiovascular cancer' SubClassOf 'cancer' http://purl.obolibrary.org/obo/MONDO_0002116 malignant exocrine pancreas neoplasm 'malignant exocrine pancreas neoplasm' SubClassOf 'pancreatic exocrine neoplasm' 'malignant exocrine pancreas neoplasm' SubClassOf 'Malignant Pancreatic Neoplasm' 'malignant exocrine pancreas neoplasm' SubClassOf 'pancreatic exocrine neoplasm' 'malignant exocrine pancreas neoplasm' SubClassOf 'Malignant Pancreatic Neoplasm' http://purl.obolibrary.org/obo/MONDO_0016757 malignant triton tumor 'malignant triton tumor' SubClassOf 'malignant peripheral nerve sheath tumor' 'malignant triton tumor' SubClassOf 'malignant peripheral nerve sheath tumor' http://www.orpha.net/ORDO/Orphanet_391389 Familial episodic pain syndrome with predominantly upper body involvement 'Familial episodic pain syndrome with predominantly upper body involvement' SubClassOf 'Familial episodic pain syndrome' 'Familial episodic pain syndrome with predominantly upper body involvement' SubClassOf 'Familial episodic pain syndrome' http://purl.obolibrary.org/obo/MONDO_0002120 neuroendocrine carcinoma 'neuroendocrine carcinoma' SubClassOf 'carcinoma' 'neuroendocrine carcinoma' SubClassOf 'malignant endocrine neoplasm' 'neuroendocrine carcinoma' SubClassOf 'carcinoma' 'neuroendocrine carcinoma' SubClassOf 'malignant endocrine neoplasm' http://www.orpha.net/ORDO/Orphanet_220386 Semilobar holoprosencephaly 'Semilobar holoprosencephaly' SubClassOf 'Holoprosencephaly' 'Semilobar holoprosencephaly' SubClassOf 'Holoprosencephaly' http://www.orpha.net/ORDO/Orphanet_244310 RFT1-CDG 'RFT1-CDG' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'RFT1-CDG' SubClassOf 'Disorder of protein N-glycosylation' 'RFT1-CDG' SubClassOf 'Congenital disorder of glycosylation with deafness as a major feature' 'RFT1-CDG' SubClassOf 'Congenital disorder of glycosylation with hepatic involvement' 'RFT1-CDG' SubClassOf 'congenital disorder of glycosylation type I' 'RFT1-CDG' SubClassOf 'Syndromic genetic deafness' 'RFT1-CDG' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'RFT1-CDG' SubClassOf 'congenital nervous system disorder' 'RFT1-CDG' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_391397 Hereditary sensory and autonomic neuropathy type 7 'Hereditary sensory and autonomic neuropathy type 7' SubClassOf 'Autosomal dominant hereditary sensory and autonomic neuropathy' 'Hereditary sensory and autonomic neuropathy type 7' SubClassOf 'Autosomal dominant hereditary sensory and autonomic neuropathy' http://www.orpha.net/ORDO/Orphanet_391392 Familial episodic pain syndrome with predominantly lower limb involvement 'Familial episodic pain syndrome with predominantly lower limb involvement' SubClassOf 'syndromic disease' 'Familial episodic pain syndrome with predominantly lower limb involvement' SubClassOf 'Familial episodic pain syndrome' 'Familial episodic pain syndrome with predominantly lower limb involvement' SubClassOf 'Familial episodic pain syndrome' http://purl.obolibrary.org/obo/MONDO_0002149 reproductive system cancer 'reproductive system cancer' SubClassOf 'cancer' 'reproductive system cancer' SubClassOf 'cancer' http://purl.obolibrary.org/obo/MONDO_0014128 TCF12-related craniosynostosis 'TCF12-related craniosynostosis' SubClassOf 'Isolated brachycephaly' 'TCF12-related craniosynostosis' SubClassOf 'Isolated plagiocephaly' 'TCF12-related craniosynostosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018113 'TCF12-related craniosynostosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018114 http://purl.obolibrary.org/obo/MONDO_0016784 gestational trophoblastic disease 'gestational trophoblastic disease' EquivalentTo 'Hydatidiform Mole' or 'Gestational trophoblastic neoplasm' 'gestational trophoblastic disease' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0018944 or 'Hydatidiform Mole' http://purl.obolibrary.org/obo/MONDO_0014137 precocious puberty, central, 2 'precocious puberty, central, 2' SubClassOf 'central precocious puberty' 'precocious puberty, central, 2' SubClassOf 'central precocious puberty' http://www.orpha.net/ORDO/Orphanet_268337 Autosomal recessive intermediate Charcot-Marie-Tooth disease 'Autosomal recessive intermediate Charcot-Marie-Tooth disease' SubClassOf 'intermediate Charcot-Marie-Tooth disease' 'Autosomal recessive intermediate Charcot-Marie-Tooth disease' SubClassOf 'autosomal recessive disease' 'Autosomal recessive intermediate Charcot-Marie-Tooth disease' SubClassOf 'Hereditary motor and sensory neuropathy' 'Autosomal recessive intermediate Charcot-Marie-Tooth disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015626 http://purl.obolibrary.org/obo/MONDO_0014138 nemaline myopathy 8 'nemaline myopathy 8' SubClassOf 'Severe congenital nemaline myopathy' 'nemaline myopathy 8' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015735 http://www.orpha.net/ORDO/Orphanet_268322 Hereditary thrombocytopenia with normal platelets 'Hereditary thrombocytopenia with normal platelets' SubClassOf 'isolated constitutional thrombocytopenia' http://purl.obolibrary.org/obo/MONDO_0002171 giant cell tumor 'giant cell tumor' SubClassOf 'neoplasm' 'giant cell tumor' SubClassOf 'neoplasm' http://www.orpha.net/ORDO/Orphanet_209967 Episodic ataxia type 6 'Episodic ataxia type 6' SubClassOf 'Hereditary episodic ataxia' 'Episodic ataxia type 6' SubClassOf 'Hereditary episodic ataxia' http://www.orpha.net/ORDO/Orphanet_391327 X-linked calvarial hyperostosis 'X-linked calvarial hyperostosis' SubClassOf 'Primary bone dysplasia with increased bone density' 'X-linked calvarial hyperostosis' SubClassOf 'hyperostosis' 'X-linked calvarial hyperostosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_391330 X-linked osteoporosis with fractures 'X-linked osteoporosis with fractures' SubClassOf 'Primary bone dysplasia with decreased bone density' 'X-linked osteoporosis with fractures' SubClassOf 'osteoporosis' 'X-linked osteoporosis with fractures' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_209978 Alternating hemiplegia 'Alternating hemiplegia' SubClassOf 'Rare genetic neurological disorder' 'Alternating hemiplegia' SubClassOf 'Rare genetic neurological disorder' 'Alternating hemiplegia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.orpha.net/ORDO/Orphanet_209973 Benign familial nocturnal alternating hemiplegia of childhood 'Benign familial nocturnal alternating hemiplegia of childhood' SubClassOf 'Alternating hemiplegia' 'Benign familial nocturnal alternating hemiplegia of childhood' SubClassOf 'Alternating hemiplegia' http://www.orpha.net/ORDO/Orphanet_209970 Episodic ataxia type 7 'Episodic ataxia type 7' SubClassOf 'Hereditary episodic ataxia' 'Episodic ataxia type 7' SubClassOf 'Hereditary episodic ataxia' http://www.orpha.net/ORDO/Orphanet_391343 Fatal post-viral neurodegenerative disorder 'Fatal post-viral neurodegenerative disorder' SubClassOf 'brain inflammatory disease' 'Fatal post-viral neurodegenerative disorder' SubClassOf 'Genetic neurodegenerative disease' 'Fatal post-viral neurodegenerative disorder' SubClassOf 'Genetic neurodegenerative disease' http://purl.obolibrary.org/obo/MONDO_0014175 mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive 'mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive' SubClassOf 'Mitochondrial DNA depletion syndrome' 'mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018158 http://www.orpha.net/ORDO/Orphanet_391307 Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome 'Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome' SubClassOf 'congenital nervous system disorder' 'Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome' SubClassOf 'syndromic intellectual disability' 'Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_209981 IRIDA syndrome 'IRIDA syndrome' SubClassOf 'Constitutional anemia due to iron metabolism disorder' 'IRIDA syndrome' SubClassOf 'microcytic anemia' 'IRIDA syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_391311 Susceptibility to viral and mycobacterial infections 'Susceptibility to viral and mycobacterial infections' SubClassOf 'Genetic susceptibility to infections due to particular pathogens' 'Susceptibility to viral and mycobacterial infections' SubClassOf 'Genetic susceptibility to infections due to particular pathogens' http://www.orpha.net/ORDO/Orphanet_391316 Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression 'Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression' SubClassOf 'Monogenic disease with epilepsy' 'Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression' SubClassOf 'Infantile epilepsy syndrome' 'Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression' SubClassOf 'Monogenic disease with epilepsy' 'Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression' SubClassOf 'Infantile epilepsy syndrome' http://www.orpha.net/ORDO/Orphanet_391320 East Texas bleeding disorder 'East Texas bleeding disorder' SubClassOf 'coagulation protein disease' 'East Texas bleeding disorder' SubClassOf 'hemorrhagic disease' 'East Texas bleeding disorder' SubClassOf 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' 'East Texas bleeding disorder' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_51208 Formiminoglutamic aciduria 'Formiminoglutamic aciduria' SubClassOf 'Disorder of folate metabolism and transport' 'Formiminoglutamic aciduria' SubClassOf 'megaloblastic anemia' 'Formiminoglutamic aciduria' SubClassOf 'Disorder of folate metabolism and transport' http://www.orpha.net/ORDO/Orphanet_391376 Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome 'Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome' SubClassOf 'congenital nervous system disorder' 'Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome' SubClassOf 'Neurometabolic disease' 'Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome' SubClassOf 'Disorder of asparagine metabolism' 'Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome' SubClassOf 'Neurometabolic disease' 'Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome' SubClassOf 'Disorder of asparagine metabolism' http://www.orpha.net/ORDO/Orphanet_391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome 'Intellectual disability-severe speech delay-mild dysmorphism syndrome' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_77828 Genetic obesity 'Genetic obesity' SubClassOf 'Inborn errors of metabolism' 'Genetic obesity' SubClassOf 'endocrine system disease' 'Genetic obesity' SubClassOf 'obesity' 'Genetic obesity' SubClassOf 'has modifier' some 'rare' 'Genetic obesity' EquivalentTo 'obesity' and ('has modifier' some 'inherited') http://www.orpha.net/ORDO/Orphanet_244305 Dominant hypophosphatemia with nephrolithiasis or osteoporosis 'Dominant hypophosphatemia with nephrolithiasis or osteoporosis' SubClassOf 'Genetic renal tubular disease' 'Dominant hypophosphatemia with nephrolithiasis or osteoporosis' SubClassOf 'Genetic renal tubular disease' http://www.orpha.net/ORDO/Orphanet_391384 Familial episodic pain syndrome 'Familial episodic pain syndrome' SubClassOf 'Genetic peripheral neuropathy' 'Familial episodic pain syndrome' SubClassOf 'Genetic peripheral neuropathy' http://www.orpha.net/ORDO/Orphanet_391381 Disorder of asparagine metabolism 'Disorder of asparagine metabolism' SubClassOf 'Disorder of amino acid and other organic acid metabolism' 'Disorder of asparagine metabolism' SubClassOf 'Disorder of amino acid and other organic acid metabolism' http://www.orpha.net/ORDO/Orphanet_391348 Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome 'Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome' SubClassOf 'combined oxidative phosphorylation deficiency' 'Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome' SubClassOf 'Neurometabolic disease' 'Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome' SubClassOf 'Neurometabolic disease' http://www.orpha.net/ORDO/Orphanet_391351 SURF1-related Charcot-Marie-Tooth disease type 4 'SURF1-related Charcot-Marie-Tooth disease type 4' SubClassOf 'Charcot-Marie-Tooth disease type 4' 'SURF1-related Charcot-Marie-Tooth disease type 4' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018995 http://www.orpha.net/ORDO/Orphanet_391366 Growth retardation-mild developmental delay-chronic hepatitis syndrome 'Growth retardation-mild developmental delay-chronic hepatitis syndrome' SubClassOf 'Genetic parenchymatous liver disease' 'Growth retardation-mild developmental delay-chronic hepatitis syndrome' SubClassOf 'Genetic parenchymatous liver disease' http://www.orpha.net/ORDO/Orphanet_317476 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia 'X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia' SubClassOf 'non-SCID combined immunodeficiency' 'X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_317473 Pancytopenia due to IKZF1 mutations 'Pancytopenia due to IKZF1 mutations' SubClassOf 'Common variable immunodeficiency' http://www.orpha.net/ORDO/Orphanet_329466 Autosomal dominant focal dystonia, DYT25 'Autosomal dominant focal dystonia, DYT25' SubClassOf 'Focal, segmental or multifocal dystonia' 'Autosomal dominant focal dystonia, DYT25' SubClassOf 'multifocal dystonia' 'Autosomal dominant focal dystonia, DYT25' SubClassOf 'Focal, segmental or multifocal dystonia' http://www.orpha.net/ORDO/Orphanet_329457 Distal arthrogryposis type 5D 'Distal arthrogryposis type 5D' SubClassOf 'Distal arthrogryposis' 'Distal arthrogryposis type 5D' SubClassOf 'Distal arthrogryposis' http://www.orpha.net/ORDO/Orphanet_89841 Centripetalis recessive dystrophic epidermolysis bullosa 'Centripetalis recessive dystrophic epidermolysis bullosa' SubClassOf 'epidermolysis bullosa dystrophica' http://www.orpha.net/ORDO/Orphanet_209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency 'Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency' SubClassOf 'has modifier' some 'rare' 'Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency' SubClassOf 'familial hypercholesterolemia' 'Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency' SubClassOf 'Disorder of bile acid synthesis' 'Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency' SubClassOf 'Disorder of bile acid synthesis' http://www.orpha.net/ORDO/Orphanet_89840 Junctional epidermolysis bullosa, non-Herlitz type 'Junctional epidermolysis bullosa, Herlitz type' DisjointWith 'Junctional epidermolysis bullosa, non-Herlitz type' 'Junctional epidermolysis bullosa, non-Herlitz type' SubClassOf 'Junctional epidermolysis bullosa' 'Junctional epidermolysis bullosa, non-Herlitz type' SubClassOf 'Junctional epidermolysis bullosa' http://www.orpha.net/ORDO/Orphanet_89844 Lissencephaly syndrome, Norman-Roberts type 'Lissencephaly syndrome, Norman-Roberts type' SubClassOf 'Milroy disease' 'Lissencephaly syndrome, Norman-Roberts type' SubClassOf 'Syndromic lymphedema' 'Lissencephaly syndrome, Norman-Roberts type' SubClassOf 'neurovascular disorder' 'Lissencephaly syndrome, Norman-Roberts type' SubClassOf 'Microlissencephaly' 'Lissencephaly syndrome, Norman-Roberts type' SubClassOf 'Syndromic lymphedema' 'Lissencephaly syndrome, Norman-Roberts type' SubClassOf 'Microlissencephaly' 'Lissencephaly syndrome, Norman-Roberts type' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_89843 Dystrophic epidermolysis bullosa pruriginosa 'Dystrophic epidermolysis bullosa pruriginosa' SubClassOf 'epidermolysis bullosa dystrophica' http://www.orpha.net/ORDO/Orphanet_89842 Recessive dystrophic epidermolysis bullosa-generalized other 'Recessive dystrophic epidermolysis bullosa-generalized other' SubClassOf 'epidermolysis bullosa dystrophica' http://www.orpha.net/ORDO/Orphanet_209908 Childhood apraxia of speech 'Childhood apraxia of speech' SubClassOf 'specific language disorder' 'Childhood apraxia of speech' SubClassOf 'Rare genetic neurological disorder' 'Childhood apraxia of speech' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_209905 Brain-lung-thyroid syndrome 'Brain-lung-thyroid syndrome' SubClassOf 'Genetic dermis disorder' 'Brain-lung-thyroid syndrome' SubClassOf 'congenital nervous system disorder' 'Brain-lung-thyroid syndrome' SubClassOf 'syndromic intellectual disability' 'Brain-lung-thyroid syndrome' SubClassOf 'Syndromic hypothyroidism' 'Brain-lung-thyroid syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019276 'Brain-lung-thyroid syndrome' SubClassOf 'Syndromic hypothyroidism' http://www.orpha.net/ORDO/Orphanet_89838 KRT14-related epidermolysis bullosa simplex 'KRT14-related epidermolysis bullosa simplex' SubClassOf 'Basal epidermolysis bullosa simplex' 'KRT14-related epidermolysis bullosa simplex' SubClassOf 'Basal epidermolysis bullosa simplex' http://www.orpha.net/ORDO/Orphanet_89839 Epidermolysis bullosa simplex superficialis 'Epidermolysis bullosa simplex superficialis' SubClassOf 'Suprabasal epidermolysis bullosa simplex' 'Epidermolysis bullosa simplex superficialis' SubClassOf 'Suprabasal epidermolysis bullosa simplex' http://www.orpha.net/ORDO/Orphanet_89832 Syndromic lymphedema 'Syndromic lymphedema' SubClassOf 'Lymphedema' 'Syndromic lymphedema' SubClassOf 'syndromic disease' 'Syndromic lymphedema' EquivalentTo 'Lymphedema' and ('has modifier' some 'has a syndromic presentation') 'Syndromic lymphedema' SubClassOf 'Lymphedema' http://www.orpha.net/ORDO/Orphanet_99226 Monosomy X 'Monosomy X' SubClassOf 'Turner syndrome' 'Monosomy X' SubClassOf 'monosomy' 'Monosomy X' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019499 http://www.orpha.net/ORDO/Orphanet_99228 Mosaic monosomy X 'Mosaic monosomy X' SubClassOf 'has modifier' some 'mosaic' 'Mosaic monosomy X' SubClassOf 'Monosomy X' 'Mosaic monosomy X' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019499 http://www.orpha.net/ORDO/Orphanet_63273 Distal myopathy with posterior leg and anterior hand involvement 'Distal myopathy with posterior leg and anterior hand involvement' SubClassOf 'Autosomal dominant distal myopathy' 'Distal myopathy with posterior leg and anterior hand involvement' SubClassOf 'Autosomal dominant distal myopathy' http://www.orpha.net/ORDO/Orphanet_391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome 'Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome' SubClassOf 'has modifier' some 'rare' 'Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome' SubClassOf 'syndromic intellectual disability' 'Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome' SubClassOf 'diabetes mellitus' http://www.orpha.net/ORDO/Orphanet_317430 Combined immunodeficiency due to STIM1 deficiency 'Combined immunodeficiency due to STIM1 deficiency' SubClassOf 'Combined immunodeficiency due to CRAC channel dysfunction' 'Combined immunodeficiency due to STIM1 deficiency' SubClassOf 'Combined immunodeficiency due to CRAC channel dysfunction' http://www.orpha.net/ORDO/Orphanet_391417 HSD10 disease 'HSD10 disease' SubClassOf 'X-linked syndromic intellectual disability' 'HSD10 disease' SubClassOf 'Cerebral organic aciduria' 'HSD10 disease' SubClassOf 'Neurometabolic disease' 'HSD10 disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 'HSD10 disease' SubClassOf 'Cerebral organic aciduria' 'HSD10 disease' SubClassOf 'Neurometabolic disease' http://www.orpha.net/ORDO/Orphanet_209932 Cone dystrophy with supernormal rod response 'Cone dystrophy with supernormal rod response' SubClassOf 'Progressive cone dystrophy' 'Cone dystrophy with supernormal rod response' SubClassOf 'Retinal dystrophy' http://www.orpha.net/ORDO/Orphanet_391411 Atypical juvenile parkinsonism 'Atypical juvenile parkinsonism' SubClassOf 'parkinsonian disorder' http://www.orpha.net/ORDO/Orphanet_75249 Familial isolated restrictive cardiomyopathy 'Familial isolated restrictive cardiomyopathy' SubClassOf 'Familial restrictive cardiomyopathy' 'Familial isolated restrictive cardiomyopathy' SubClassOf 'Familial restrictive cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_317419 T-B- severe combined immunodeficiency 'T-B- severe combined immunodeficiency' SubClassOf 'Severe combined immunodeficiency' 'T-B- severe combined immunodeficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_209943 IRVAN syndrome 'IRVAN syndrome' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'IRVAN syndrome' SubClassOf 'has modifier' some 'rare' 'IRVAN syndrome' SubClassOf 'disorder of central nervous system or retinal vasculature' 'IRVAN syndrome' SubClassOf 'eye disease' 'IRVAN syndrome' SubClassOf 'Genetic vitreous-retinal disease' 'IRVAN syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0005400 chemotherapy-induced alopecia 'chemotherapy-induced alopecia' SubClassOf 'Alopecia' 'chemotherapy-induced alopecia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004907 'chemotherapy-induced alopecia' SubClassOf 'head and neck disorder' 'chemotherapy-induced alopecia' SubClassOf 'Alopecia' http://www.orpha.net/ORDO/Orphanet_293284 Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria 'Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria' SubClassOf 'Phenylketonuria' 'Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria' SubClassOf 'Phenylketonuria' http://www.ebi.ac.uk/efo/EFO_0005407 psychosis 'psychosis' SubClassOf 'mental or behavioural disorder' 'psychosis' SubClassOf 'mental or behavioural disorder' http://www.orpha.net/ORDO/Orphanet_317416 T-B+ severe combined immunodeficiency 'T-B+ severe combined immunodeficiency' SubClassOf 'Severe combined immunodeficiency' 'T-B+ severe combined immunodeficiency' DisjointWith 'T+ B+ severe combined immunodeficiency' 'T-B+ severe combined immunodeficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_317428 Combined immunodeficiency due to ORAI1 deficiency 'Combined immunodeficiency due to ORAI1 deficiency' SubClassOf 'Combined immunodeficiency due to CRAC channel dysfunction' 'Combined immunodeficiency due to ORAI1 deficiency' SubClassOf 'Combined immunodeficiency due to CRAC channel dysfunction' http://www.orpha.net/ORDO/Orphanet_209951 Autosomal recessive spastic paraplegia type 18 'Autosomal recessive spastic paraplegia type 18' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 18' SubClassOf 'Autosomal recessive complex spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_63260 Craniorachischisis 'Craniorachischisis' SubClassOf 'Neural tube closure defect' 'Craniorachischisis' SubClassOf 'congenital nervous system disorder' 'Craniorachischisis' SubClassOf 'Neural tube closure defect' http://www.orpha.net/ORDO/Orphanet_63261 HERNS syndrome 'HERNS syndrome' SubClassOf 'Syndromic urogenital tract malformation' http://www.orpha.net/ORDO/Orphanet_317425 Severe combined immunodeficiency due to DNA-PKcs deficiency 'Severe combined immunodeficiency due to DNA-PKcs deficiency' SubClassOf 'T-B- severe combined immunodeficiency' 'Severe combined immunodeficiency due to DNA-PKcs deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017855 http://www.orpha.net/ORDO/Orphanet_75233 Wolman disease 'Wolman disease' SubClassOf 'Lysosomal acid lipase deficiency' 'Wolman disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_75234 Cholesteryl ester storage disease 'Cholesteryl ester storage disease' SubClassOf 'Lysosomal acid lipase deficiency' 'Cholesteryl ester storage disease' SubClassOf 'Lysosomal acid lipase deficiency' http://www.orpha.net/ORDO/Orphanet_63259 Iniencephaly 'Iniencephaly' SubClassOf 'Neural tube closure defect' 'Iniencephaly' SubClassOf 'Neural tube closure defect' http://www.ebi.ac.uk/efo/EFO_0005425 language impairment 'language impairment' SubClassOf 'Rare genetic neurological disorder' 'language impairment' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.orpha.net/ORDO/Orphanet_268261 21q22.13q22.2 microdeletion syndrome '21q22.13q22.2 microdeletion syndrome' SubClassOf 'DYRK1A-related intellectual disability syndrome' '21q22.13q22.2 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 21' '21q22.13q22.2 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 21' http://www.ebi.ac.uk/efo/EFO_0005410 tooth agenesis 'tooth agenesis' SubClassOf 'head and neck disorder' http://www.orpha.net/ORDO/Orphanet_281201 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome 'Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome' SubClassOf 'Autosomal dominant diffuse mutilating palmoplantar keratoderma' 'Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome' SubClassOf 'Inherited non-syndromic ichthyosis' 'Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome' SubClassOf 'Isolated diffuse palmoplantar keratoderma' 'Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome' SubClassOf 'Autosomal dominant diffuse mutilating palmoplantar keratoderma' 'Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome' SubClassOf 'Inherited non-syndromic ichthyosis' http://purl.obolibrary.org/obo/MONDO_0041806 drug-resistant tuberculosis 'drug-resistant tuberculosis' SubClassOf 'Tuberculosis' 'drug-resistant tuberculosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018076 http://www.orpha.net/ORDO/Orphanet_281210 X-linked ichthyosis syndrome 'X-linked ichthyosis syndrome' SubClassOf 'X-linked disease' 'X-linked ichthyosis syndrome' SubClassOf 'Inherited ichthyosis syndromic form' 'X-linked ichthyosis syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_281217 Autosomal ichthyosis syndrome 'Autosomal ichthyosis syndrome' SubClassOf 'Inherited ichthyosis syndromic form' 'Autosomal ichthyosis syndrome' SubClassOf 'Inherited ichthyosis syndromic form' http://www.orpha.net/ORDO/Orphanet_329481 Lipoprotein glomerulopathy 'Lipoprotein glomerulopathy' SubClassOf 'Primary glomerular disease' 'Lipoprotein glomerulopathy' SubClassOf 'Rare syndromic dyslipidemia' 'Lipoprotein glomerulopathy' SubClassOf 'Primary glomerular disease' 'Lipoprotein glomerulopathy' SubClassOf 'Rare syndromic dyslipidemia' http://purl.obolibrary.org/obo/MONDO_0004869 pelvic varices 'pelvic varices' SubClassOf 'abdominal and pelvic region disorder' http://www.orpha.net/ORDO/Orphanet_329475 Spastic paraplegia - Paget disease of bone 'Spastic paraplegia - Paget disease of bone' SubClassOf 'Autosomal dominant complex spastic paraplegia' 'Spastic paraplegia - Paget disease of bone' SubClassOf 'Autosomal dominant complex spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_329478 Adult-onset distal myopathy due to VCP mutation 'Adult-onset distal myopathy due to VCP mutation' SubClassOf 'Autosomal dominant distal myopathy' 'Adult-onset distal myopathy due to VCP mutation' SubClassOf 'Autosomal dominant distal myopathy' http://purl.obolibrary.org/obo/MONDO_0004647 in situ carcinoma 'in situ carcinoma' SubClassOf 'carcinoma' 'in situ carcinoma' SubClassOf 'carcinoma' http://purl.obolibrary.org/obo/MONDO_0004641 skin carcinoma in situ 'skin carcinoma in situ' SubClassOf 'in situ carcinoma' 'skin carcinoma in situ' SubClassOf 'skin carcinoma' 'skin carcinoma in situ' SubClassOf 'in situ carcinoma' 'skin carcinoma in situ' SubClassOf 'skin carcinoma' http://purl.obolibrary.org/obo/MONDO_0004640 alcoholic gastritis 'alcoholic gastritis' SubClassOf 'gastritis' 'alcoholic gastritis' SubClassOf 'gastritis' http://purl.obolibrary.org/obo/MONDO_0004649 anaerobic pneumonia 'anaerobic pneumonia' SubClassOf 'aspiration pneumonia' http://purl.obolibrary.org/obo/MONDO_0004658 breast carcinoma in situ 'breast carcinoma in situ' SubClassOf 'in situ carcinoma' 'breast carcinoma in situ' SubClassOf 'in situ carcinoma' http://purl.obolibrary.org/obo/MONDO_0016641 limb transversal defect-cardiac anomaly syndrome 'limb transversal defect-cardiac anomaly syndrome' SubClassOf 'Dysostosis of genetic origin' 'limb transversal defect-cardiac anomaly syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018454 http://purl.obolibrary.org/obo/MONDO_0002012 methylmalonic acidemia 'methylmalonic acidemia' SubClassOf 'Organic aciduria' 'methylmalonic acidemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000688 http://purl.obolibrary.org/obo/MONDO_0004675 mitochondrial encephalomyopathy 'mitochondrial encephalomyopathy' SubClassOf 'Mitochondrial myopathy' 'mitochondrial encephalomyopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0009637 http://purl.obolibrary.org/obo/MONDO_0004689 inborn metal metabolism disorder 'inborn metal metabolism disorder' SubClassOf 'Inborn errors of metabolism' 'inborn metal metabolism disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019052 http://purl.obolibrary.org/obo/MONDO_0004686 lattice corneal dystrophy 'lattice corneal dystrophy' SubClassOf 'Stromal corneal dystrophy' 'lattice corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020213 http://purl.obolibrary.org/obo/MONDO_0002038 head and neck carcinoma 'head and neck carcinoma' SubClassOf 'head and neck malignant neoplasia' 'head and neck carcinoma' SubClassOf 'carcinoma' 'head and neck carcinoma' SubClassOf 'head and neck malignant neoplasia' 'head and neck carcinoma' SubClassOf 'carcinoma' http://purl.obolibrary.org/obo/MONDO_0004698 intestine carcinoma in situ 'intestine carcinoma in situ' SubClassOf 'in situ carcinoma' 'intestine carcinoma in situ' SubClassOf 'in situ carcinoma' http://purl.obolibrary.org/obo/MONDO_0004693 squamous carcinoma in situ 'squamous carcinoma in situ' SubClassOf 'squamous cell carcinoma' 'squamous carcinoma in situ' SubClassOf 'in situ carcinoma' 'squamous carcinoma in situ' SubClassOf 'squamous cell carcinoma' 'squamous carcinoma in situ' SubClassOf 'in situ carcinoma' http://www.orpha.net/ORDO/Orphanet_271861 Familial transthyretin-related amyloidosis 'Familial transthyretin-related amyloidosis' SubClassOf 'hereditary amyloidosis' 'Familial transthyretin-related amyloidosis' SubClassOf 'hereditary amyloidosis' http://purl.obolibrary.org/obo/MONDO_0014013 maternal riboflavin deficiency 'maternal riboflavin deficiency' SubClassOf 'Disorder of other vitamins and cofactors metabolism and transport' 'maternal riboflavin deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017760 http://www.orpha.net/ORDO/Orphanet_271853 Genetic cardiac anomaly 'Genetic cardiac anomaly' SubClassOf 'has modifier' some 'rare' 'Genetic cardiac anomaly' SubClassOf 'disorder of development or morphogenesis' http://www.orpha.net/ORDO/Orphanet_232288 Alpha-thalassemia-related diseases 'Alpha-thalassemia-related diseases' SubClassOf 'disease shares features of' some 'Alpha-thalassemia' 'Alpha-thalassemia-related diseases' SubClassOf 'Alpha-thalassemia and related diseases' 'Alpha-thalassemia-related diseases' SubClassOf 'Alpha-thalassemia and related diseases' http://purl.obolibrary.org/obo/MONDO_0002041 fungal infectious disease 'fungal infectious disease' SubClassOf 'infectious disease' 'fungal infectious disease' SubClassOf 'infectious disease' http://www.orpha.net/ORDO/Orphanet_271847 Genetic endocrine tumor 'Genetic endocrine tumor' EquivalentTo 'neuroendocrine neoplasm' and ('has modifier' some 'inherited') 'Genetic endocrine tumor' SubClassOf 'has modifier' some 'rare' 'Genetic endocrine tumor' SubClassOf 'neuroendocrine neoplasm' 'Genetic endocrine tumor' SubClassOf 'endocrine system disease' http://www.orpha.net/ORDO/Orphanet_271841 Genetic cardiac tumor 'Genetic cardiac tumor' SubClassOf 'has modifier' some 'rare' 'Genetic cardiac tumor' SubClassOf 'Heart neoplasm' 'Genetic cardiac tumor' EquivalentTo 'Heart neoplasm' and ('has modifier' some 'inherited') 'Genetic cardiac tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017129 http://www.orpha.net/ORDO/Orphanet_99092 Interventricular septum aneurysm 'Interventricular septum aneurysm' SubClassOf 'congenital anomaly of ventricular septum' http://www.orpha.net/ORDO/Orphanet_99095 Gerbode defect 'Gerbode defect' SubClassOf 'has modifier' some 'congenital' 'Gerbode defect' SubClassOf 'congenital heart malformation' http://purl.obolibrary.org/obo/MONDO_0016685 low-grade astrocytoma 'low-grade astrocytoma' SubClassOf 'astrocytoma (excluding glioblastoma)' 'low-grade astrocytoma' SubClassOf 'astrocytoma (excluding glioblastoma)' http://www.orpha.net/ORDO/Orphanet_99094 Laubry-Pezzi syndrome 'Laubry-Pezzi syndrome' SubClassOf 'congenital anomaly of ventricular septum' 'Laubry-Pezzi syndrome' SubClassOf 'has modifier' some 'has an isolated presentation' 'Laubry-Pezzi syndrome' SubClassOf 'Ventricular septal defect' 'Laubry-Pezzi syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99097 Single ventricular septal defect 'Single ventricular septal defect' SubClassOf 'Ventricular septal defect' 'Single ventricular septal defect' SubClassOf 'Ventricular septal defect' http://purl.obolibrary.org/obo/MONDO_0016680 high grade astrocytic tumor 'high grade astrocytic tumor' SubClassOf 'astrocytoma' 'high grade astrocytic tumor' SubClassOf 'astrocytoma' http://purl.obolibrary.org/obo/MONDO_0002050 depressive disorder 'depressive disorder' SubClassOf 'mood disorder' 'depressive disorder' SubClassOf 'mood disorder' http://www.orpha.net/ORDO/Orphanet_271835 Genetic digestive tract tumor 'Genetic digestive tract tumor' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016697 low grade ependymoma 'low grade ependymoma' SubClassOf 'ependymoma' 'low grade ependymoma' SubClassOf 'ependymoma' http://www.orpha.net/ORDO/Orphanet_271832 Genetic soft tissue tumor 'Genetic soft tissue tumor' SubClassOf 'mesenchymal cell neoplasm' 'Genetic soft tissue tumor' SubClassOf 'has modifier' some 'rare' 'Genetic soft tissue tumor' EquivalentTo 'mesenchymal cell neoplasm' and ('has modifier' some 'inherited') http://www.orpha.net/ORDO/Orphanet_220295 Xeroderma pigmentosum-Cockayne syndrome complex 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'progeroid syndrome' 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'Genetic photodermatosis' 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'Syndromic retinitis pigmentosa' 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'disease shares features of' some 'Cockayne syndrome' 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'Genetic progeroid syndrome' 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'syndromic intellectual disability' 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'Syndromic genetic deafness' 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'disease shares features of' some 'Xeroderma pigmentosum' 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'Syndromic retinitis pigmentosa' 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'Genetic photodermatosis' 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'progeroid syndrome' 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_391457 HSD10 disease, neonatal type 'HSD10 disease, neonatal type' SubClassOf 'HSD10 disease' 'HSD10 disease, neonatal type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_53719 Wyburn-Mason syndrome 'Wyburn-Mason syndrome' SubClassOf 'genetic skin disease' 'Wyburn-Mason syndrome' SubClassOf 'cerebrofacial arteriovenous metameric syndrome' 'Wyburn-Mason syndrome' SubClassOf 'skin vascular disease' 'Wyburn-Mason syndrome' SubClassOf 'neurocutaneous syndrome' 'Wyburn-Mason syndrome' SubClassOf 'skin hemangioma' 'Wyburn-Mason syndrome' SubClassOf 'Palpebral tumor with a vascular malformation' 'Wyburn-Mason syndrome' SubClassOf 'benign eyelid neoplasm' 'Wyburn-Mason syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_53715 Tumoral calcinosis 'Tumoral calcinosis' SubClassOf 'calcium metabolic disease' 'Tumoral calcinosis' SubClassOf 'Genetic skin tumor' 'Tumoral calcinosis' SubClassOf 'Inborn errors of metabolism' 'Tumoral calcinosis' SubClassOf 'participates_in' some 'calcium ion homeostasis' 'Tumoral calcinosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0002071 supratentorial cancer 'supratentorial cancer' SubClassOf 'brain cancer' 'supratentorial cancer' SubClassOf 'brain cancer' http://www.orpha.net/ORDO/Orphanet_163988 Developmental delay - deafness, Hildebrand type 'Developmental delay - deafness, Hildebrand type' SubClassOf 'X-linked syndromic intellectual disability' 'Developmental delay - deafness, Hildebrand type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 http://www.orpha.net/ORDO/Orphanet_391428 HSD10 disease, infantile type 'HSD10 disease, infantile type' SubClassOf 'HSD10 disease' 'HSD10 disease, infantile type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_209867 Autosomal dominant rhegmatogenous retinal detachment 'Autosomal dominant rhegmatogenous retinal detachment' SubClassOf 'autosomal dominant disease' 'Autosomal dominant rhegmatogenous retinal detachment' SubClassOf 'rhegmatogenous retinal detachment' 'Autosomal dominant rhegmatogenous retinal detachment' SubClassOf 'retinopathy' 'Autosomal dominant rhegmatogenous retinal detachment' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://purl.obolibrary.org/obo/MONDO_0002087 peritoneum cancer 'peritoneum cancer' SubClassOf 'cancer' 'peritoneum cancer' SubClassOf 'peritoneal neoplasm' 'peritoneum cancer' SubClassOf 'cancer' 'peritoneum cancer' SubClassOf 'peritoneal neoplasm' http://purl.obolibrary.org/obo/MONDO_0014080 osteosclerotic metaphyseal dysplasia 'osteosclerotic metaphyseal dysplasia' SubClassOf 'Osteopetrosis' 'osteosclerotic metaphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017198 http://purl.obolibrary.org/obo/MONDO_0014078 platelet-type bleeding disorder 15 'platelet-type bleeding disorder 15' SubClassOf 'Autosomal dominant macrothrombocytopenia' 'platelet-type bleeding disorder 15' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015372 http://www.orpha.net/ORDO/Orphanet_26106 Familial gastric cancer 'Familial gastric cancer' EquivalentTo 'diffuse gastric adenocarcinoma' and ('has modifier' some 'inherited') 'Familial gastric cancer' SubClassOf 'Genetic gastro-esophageal disease' 'Familial gastric cancer' SubClassOf 'hereditary gastric cancer' 'Familial gastric cancer' SubClassOf 'diffuse gastric adenocarcinoma' 'Familial gastric cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0007648 'Familial gastric cancer' SubClassOf 'Genetic digestive tract tumor' http://www.orpha.net/ORDO/Orphanet_209886 Familial juvenile hyperuricemic nephropathy type 1 'Familial juvenile hyperuricemic nephropathy type 1' SubClassOf 'Disorder of purine metabolism' 'Familial juvenile hyperuricemic nephropathy type 1' SubClassOf 'Familial cystic renal disease' 'Familial juvenile hyperuricemic nephropathy type 1' SubClassOf 'familial juvenile hyperuricemic nephropathy' 'Familial juvenile hyperuricemic nephropathy type 1' SubClassOf 'Disorder of purine metabolism' 'Familial juvenile hyperuricemic nephropathy type 1' SubClassOf 'Familial cystic renal disease' http://www.orpha.net/ORDO/Orphanet_163961 X-linked intellectual disability, Kroes type 'X-linked intellectual disability, Kroes type' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' 'X-linked intellectual disability, Kroes type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Kroes type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_163956 X-linked intellectual disability, Nascimento type 'X-linked intellectual disability, Nascimento type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Nascimento type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 http://www.orpha.net/ORDO/Orphanet_41751 Bietti crystalline dystrophy 'Bietti crystalline dystrophy' SubClassOf 'Familial flecked retinopathy' 'Bietti crystalline dystrophy' SubClassOf 'Familial flecked retinopathy' http://www.orpha.net/ORDO/Orphanet_65743 Autosomal dominant multiple pterygium syndrome 'Autosomal dominant multiple pterygium syndrome' SubClassOf 'Distal arthrogryposis' 'Autosomal dominant multiple pterygium syndrome' SubClassOf 'contractures, pterygia, and variable skeletal fusions syndrome' 'Autosomal dominant multiple pterygium syndrome' SubClassOf 'Genetic dermis disorder' 'Autosomal dominant multiple pterygium syndrome' SubClassOf 'autosomal dominant disease' 'Autosomal dominant multiple pterygium syndrome' SubClassOf 'Multiple pterygium syndrome' 'Autosomal dominant multiple pterygium syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019276 http://www.orpha.net/ORDO/Orphanet_163985 Hyperekplexia - epilepsy 'Hyperekplexia - epilepsy' SubClassOf 'developmental and epileptic encephalopathy' 'Hyperekplexia - epilepsy' SubClassOf 'Hereditary hyperekplexia' 'Hyperekplexia - epilepsy' SubClassOf 'Rare syndromic dyslipidemia' 'Hyperekplexia - epilepsy' SubClassOf 'X-linked intellectual disability - epilepsy' 'Hyperekplexia - epilepsy' SubClassOf 'X-linked complex neurodevelopmental disorder' 'Hyperekplexia - epilepsy' SubClassOf 'Rare genetic movement disorder' 'Hyperekplexia - epilepsy' SubClassOf 'X-linked intellectual disability - epilepsy' http://www.orpha.net/ORDO/Orphanet_163982 X-linked intellectual disability - spastic quadriparesis 'X-linked intellectual disability - spastic quadriparesis' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability - spastic quadriparesis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 http://www.orpha.net/ORDO/Orphanet_163976 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 http://purl.obolibrary.org/obo/MONDO_0020119 http://www.orpha.net/ORDO/Orphanet_163979 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 http://purl.obolibrary.org/obo/MONDO_0020119 http://www.orpha.net/ORDO/Orphanet_391474 Frontorhiny 'Frontorhiny' SubClassOf 'Frontonasal dysplasia' 'Frontorhiny' SubClassOf 'median facial cleft' 'Frontorhiny' SubClassOf 'Genetic head and neck malformation' 'Frontorhiny' SubClassOf 'Frontonasal dysplasia' http://www.orpha.net/ORDO/Orphanet_65720 Arthrogryposis - severe scoliosis 'Arthrogryposis - severe scoliosis' SubClassOf 'Distal arthrogryposis' 'Arthrogryposis - severe scoliosis' SubClassOf 'Distal arthrogryposis' http://www.orpha.net/ORDO/Orphanet_53739 Distal hereditary motor neuropathy 'Distal hereditary motor neuropathy' SubClassOf 'Genetic motor neuron disease' 'Distal hereditary motor neuropathy' SubClassOf 'Genetic peripheral neuropathy' 'Distal hereditary motor neuropathy' SubClassOf 'Genetic peripheral neuropathy' http://www.orpha.net/ORDO/Orphanet_163971 X-linked intellectual disability, Cilliers type 'X-linked intellectual disability, Cilliers type' SubClassOf 'Rare disorder with hypergonadotropic hypogonadism' 'X-linked intellectual disability, Cilliers type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Cilliers type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type 'X-linked dominant chondrodysplasia, Chassaing-Lacombe type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked dominant chondrodysplasia, Chassaing-Lacombe type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome 'Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome' SubClassOf 'autoimmune enteropathy' 'Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome' SubClassOf 'autoimmune polyendocrinopathy' 'Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome' SubClassOf 'Chronic mucocutaneous candidosis' 'Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome' SubClassOf 'Susceptibility to viral and mycobacterial infections' 'Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome' SubClassOf 'malabsorption syndrome' http://www.orpha.net/ORDO/Orphanet_293181 Malignant migrating partial seizures of infancy 'Malignant migrating partial seizures of infancy' SubClassOf 'Neonatal epilepsy syndrome' 'Malignant migrating partial seizures of infancy' SubClassOf 'Neonatal epilepsy syndrome' http://www.orpha.net/ORDO/Orphanet_65753 Charcot-Marie-Tooth disease type 1 'Charcot-Marie-Tooth disease type 1' SubClassOf 'Autosomal dominant hereditary demyelinating motor and sensory neuropathy' 'Charcot-Marie-Tooth disease type 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_65748 Multiple keratoacanthoma, Ferguson-Smith type 'Multiple keratoacanthoma, Ferguson-Smith type' SubClassOf 'Inherited cancer-predisposing syndrome' 'Multiple keratoacanthoma, Ferguson-Smith type' SubClassOf 'disease has feature' some 'keratoacanthoma' 'Multiple keratoacanthoma, Ferguson-Smith type' SubClassOf 'disease has feature' some 'benign tumor of palpebral epidermis' 'Multiple keratoacanthoma, Ferguson-Smith type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99103 Atrial septal defect, ostium secundum type 'Atrial septal defect, ostium secundum type' SubClassOf 'Interauricular communication' 'Atrial septal defect, ostium secundum type' SubClassOf 'atrial heart septal defect' 'Atrial septal defect, ostium secundum type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0007172 http://www.orpha.net/ORDO/Orphanet_99105 Atrial septal defect, sinus venosus type 'Atrial septal defect, sinus venosus type' SubClassOf 'Interauricular communication' 'Atrial septal defect, sinus venosus type' SubClassOf 'atrial heart septal defect' 'Atrial septal defect, sinus venosus type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0007172 http://www.orpha.net/ORDO/Orphanet_99104 Atrial septal defect, coronary sinus type 'Atrial septal defect, coronary sinus type' SubClassOf 'syndromic disease' 'Atrial septal defect, coronary sinus type' SubClassOf 'Interauricular communication' 'Atrial septal defect, coronary sinus type' SubClassOf 'atrial heart septal defect' 'Atrial septal defect, coronary sinus type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0007172 http://www.orpha.net/ORDO/Orphanet_99106 Atrial septal defect, ostium primum type 'Atrial septal defect, ostium primum type' SubClassOf 'Interauricular communication' 'Atrial septal defect, ostium primum type' SubClassOf 'atrial heart septal defect' 'Atrial septal defect, ostium primum type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0007172 http://www.orpha.net/ORDO/Orphanet_65759 Carpenter syndrome 'Carpenter syndrome' SubClassOf 'acrocephalopolysyndactyly' 'Carpenter syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Carpenter syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' 'Carpenter syndrome' SubClassOf 'Syndromic obesity' 'Carpenter syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_293144 Familial clubfoot due to 5q31 microdeletion 'Familial clubfoot due to 5q31 microdeletion' SubClassOf 'clubfoot' 'Familial clubfoot due to 5q31 microdeletion' SubClassOf 'Familial clubfoot with or without associated lower limb anomalies' http://www.orpha.net/ORDO/Orphanet_293150 Familial clubfoot due to PITX1 point mutation 'Familial clubfoot due to PITX1 point mutation' SubClassOf 'Patellar dysostosis' 'Familial clubfoot due to PITX1 point mutation' SubClassOf 'clubfoot' 'Familial clubfoot due to PITX1 point mutation' SubClassOf 'Patellar dysostosis' 'Familial clubfoot due to PITX1 point mutation' SubClassOf 'Familial clubfoot with or without associated lower limb anomalies' http://www.orpha.net/ORDO/Orphanet_51188 Ethylmalonic encephalopathy 'Ethylmalonic encephalopathy' SubClassOf 'Unspecified mitochondrial disorder' 'Ethylmalonic encephalopathy' SubClassOf 'Unspecified mitochondrial disorder' http://www.orpha.net/ORDO/Orphanet_65798 Goodman syndrome 'Goodman syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Goodman syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' 'Goodman syndrome' SubClassOf 'acrocephalopolysyndactyly' 'Goodman syndrome' SubClassOf 'disease shares features of' some 'Carpenter syndrome' 'Goodman syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_293165 Skin fragility-woolly hair-palmoplantar keratoderma syndrome 'Skin fragility-woolly hair-palmoplantar keratoderma syndrome' SubClassOf 'Diffuse palmoplantar keratoderma' 'Skin fragility-woolly hair-palmoplantar keratoderma syndrome' SubClassOf 'Syndromic hair shaft abnormality' 'Skin fragility-woolly hair-palmoplantar keratoderma syndrome' SubClassOf 'autosomal recessive disease' http://www.orpha.net/ORDO/Orphanet_281190 Congenital reticular ichthyosiform erythroderma 'Congenital reticular ichthyosiform erythroderma' SubClassOf 'Inherited non-syndromic ichthyosis' 'Congenital reticular ichthyosiform erythroderma' SubClassOf 'has modifier' some 'congenital' 'Congenital reticular ichthyosiform erythroderma' SubClassOf 'Inherited non-syndromic ichthyosis' http://www.ebi.ac.uk/efo/EFO_0005304 atrial conduction disease 'atrial conduction disease' SubClassOf 'Genetic cardiac rhythm disease' 'atrial conduction disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015110 http://www.orpha.net/ORDO/Orphanet_281122 Self-healing collodion baby 'Self-healing collodion baby' SubClassOf 'Autosomal recessive congenital ichthyosis' 'Self-healing collodion baby' SubClassOf 'Autosomal recessive congenital ichthyosis' http://www.orpha.net/ORDO/Orphanet_268145 Classic maple syrup urine disease 'Classic maple syrup urine disease' SubClassOf 'Maple syrup urine disease' 'Classic maple syrup urine disease' SubClassOf 'Maple syrup urine disease' http://www.orpha.net/ORDO/Orphanet_281127 Acral self-healing collodion baby 'Acral self-healing collodion baby' SubClassOf 'Autosomal recessive congenital ichthyosis' 'Acral self-healing collodion baby' SubClassOf 'Autosomal recessive congenital ichthyosis' http://www.orpha.net/ORDO/Orphanet_99169 Epiblepharon 'Epiblepharon' SubClassOf 'Eyelids malposition disorder' 'Epiblepharon' SubClassOf 'Eyelids malposition disorder' http://www.orpha.net/ORDO/Orphanet_281139 Annular epidermolytic ichthyosis 'Annular epidermolytic ichthyosis' SubClassOf 'autosomal dominant epidermolytic ichthyosis' 'Annular epidermolytic ichthyosis' SubClassOf 'Keratinopathic ichthyosis' http://www.ebi.ac.uk/efo/EFO_0005321 molar-incisor hypomineralization 'molar-incisor hypomineralization' SubClassOf 'head and neck disorder' http://www.ebi.ac.uk/efo/EFO_0005320 contact dermatitis due to nickel 'contact dermatitis due to nickel' SubClassOf 'contact dermatitis' 'contact dermatitis due to nickel' SubClassOf 'contact dermatitis' http://www.orpha.net/ORDO/Orphanet_268129 Spheroid body myopathy 'Spheroid body myopathy' SubClassOf 'Distal myotilinopathy' 'Spheroid body myopathy' SubClassOf 'Myofibrillar myopathy' 'Spheroid body myopathy' SubClassOf 'Qualitative or quantitative defects of myotilin' http://www.orpha.net/ORDO/Orphanet_99179 Kandori fleck retina 'Kandori fleck retina' SubClassOf 'Familial flecked retinopathy' 'Kandori fleck retina' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99170 Tarsal kink syndrome 'Tarsal kink syndrome' SubClassOf 'Congenital entropion' 'Tarsal kink syndrome' SubClassOf 'Congenital entropion' http://www.orpha.net/ORDO/Orphanet_99172 Euryblepharon 'Euryblepharon' SubClassOf 'Congenital ectropion' 'Euryblepharon' SubClassOf 'Congenital ectropion' http://www.orpha.net/ORDO/Orphanet_99171 Isolated congenital ectropion 'Isolated congenital ectropion' SubClassOf 'Congenital ectropion' 'Isolated congenital ectropion' EquivalentTo 'Congenital ectropion' and ('has modifier' some 'has an isolated presentation') 'Isolated congenital ectropion' SubClassOf 'has modifier' some 'has an isolated presentation' 'Isolated congenital ectropion' SubClassOf 'Congenital ectropion' http://purl.obolibrary.org/obo/MONDO_0004705 liver solitary fibrous tumor 'liver solitary fibrous tumor' SubClassOf 'solitary fibrous tumor' 'liver solitary fibrous tumor' SubClassOf 'solitary fibrous tumor' http://www.orpha.net/ORDO/Orphanet_99176 Congenital eyelid retraction 'Congenital eyelid retraction' SubClassOf 'eyelid disease' http://purl.obolibrary.org/obo/MONDO_0004710 uterus carcinoma in situ 'uterus carcinoma in situ' SubClassOf 'in situ carcinoma' 'uterus carcinoma in situ' SubClassOf 'in situ carcinoma' http://www.orpha.net/ORDO/Orphanet_268114 RAS-associated autoimmune leukoproliferative disease 'RAS-associated autoimmune leukoproliferative disease' SubClassOf 'Autoimmune lymphoproliferative syndrome' 'RAS-associated autoimmune leukoproliferative disease' SubClassOf 'Immunodeficiency syndrome with autoimmunity' 'RAS-associated autoimmune leukoproliferative disease' SubClassOf 'Lymphoproliferative syndrome' http://www.orpha.net/ORDO/Orphanet_90776 46,XX disorder of sex development induced by fetal androgens excess '46,XX disorder of sex development induced by fetal androgens excess' SubClassOf 'Genetic disorder of sex development of gynecological interest' '46,XX disorder of sex development induced by fetal androgens excess' SubClassOf '46,XX disorder of sex development induced by androgens excess' '46,XX disorder of sex development induced by fetal androgens excess' SubClassOf 'has modifier' some 'rare' '46,XX disorder of sex development induced by fetal androgens excess' SubClassOf 'female reproductive system disease' '46,XX disorder of sex development induced by fetal androgens excess' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_268184 Thiamine-responsive maple syrup urine disease 'Thiamine-responsive maple syrup urine disease' SubClassOf 'Maple syrup urine disease' 'Thiamine-responsive maple syrup urine disease' SubClassOf 'Maple syrup urine disease' http://purl.obolibrary.org/obo/MONDO_0004727 vestibule of mouth cancer 'vestibule of mouth cancer' SubClassOf 'oral cavity cancer' 'vestibule of mouth cancer' SubClassOf 'oral cavity cancer' http://purl.obolibrary.org/obo/MONDO_0004736 inherited amino acid metabolic disorder 'inherited amino acid metabolic disorder' SubClassOf 'Organic aciduria' 'inherited amino acid metabolic disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000688 http://purl.obolibrary.org/obo/MONDO_0004731 central sleep apnea syndrome 'central sleep apnea syndrome' SubClassOf 'sleep apnea' 'central sleep apnea syndrome' SubClassOf 'syndromic disease' 'central sleep apnea syndrome' SubClassOf 'sleep apnea' 'central sleep apnea syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0016718 choroid plexus carcinoma 'choroid plexus carcinoma' SubClassOf 'choroid plexus cancer' 'choroid plexus carcinoma' SubClassOf 'carcinoma' 'choroid plexus carcinoma' SubClassOf 'choroid plexus cancer' 'choroid plexus carcinoma' SubClassOf 'carcinoma' http://www.orpha.net/ORDO/Orphanet_268173 Intermittent maple syrup urine disease 'Intermittent maple syrup urine disease' SubClassOf 'Maple syrup urine disease' 'Intermittent maple syrup urine disease' SubClassOf 'Maple syrup urine disease' http://www.orpha.net/ORDO/Orphanet_90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency 'Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf 'Congenital adrenal hyperplasia' 'Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf '46,XX disorder of sex development induced by fetal androgens excess' 'Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf 'has modifier' some 'congenital' 'Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf 'Developmental anomaly of metabolic origin' 'Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf 'Congenital adrenal hyperplasia' 'Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019593 http://www.orpha.net/ORDO/Orphanet_90790 Congenital lipoid adrenal hyperplasia due to STAR deficency 'Congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'female infertility' 'Congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'Developmental anomaly of metabolic origin' 'Congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'Congenital adrenal hyperplasia' 'Congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'Non-acquired premature ovarian failure' 'Congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'Congenital adrenal hyperplasia' 'Congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'Non-acquired premature ovarian failure' http://purl.obolibrary.org/obo/MONDO_0004737 homocystinuria 'homocystinuria' SubClassOf 'Disorder of methionine cycle and sulfur amino acid metabolism' 'homocystinuria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019222 http://www.orpha.net/ORDO/Orphanet_90797 Partial androgen insensitivity syndrome 'Partial androgen insensitivity syndrome' SubClassOf 'Androgen insensitivity syndrome' 'Partial androgen insensitivity syndrome' SubClassOf 'Androgen insensitivity syndrome' http://www.orpha.net/ORDO/Orphanet_90796 46,XY disorder of sex development due to isolated 17,20 lyase deficiency '46,XY disorder of sex development due to isolated 17,20 lyase deficiency' SubClassOf 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' http://purl.obolibrary.org/obo/MONDO_0004746 myopathy of extraocular muscle 'myopathy of extraocular muscle' SubClassOf 'Genetic skeletal muscle disease' 'myopathy of extraocular muscle' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020120 http://purl.obolibrary.org/obo/MONDO_0004741 tyrosinemia 'tyrosinemia' SubClassOf 'Disorder of tyrosine metabolism' 'tyrosinemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017307 http://www.orpha.net/ORDO/Orphanet_90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'Developmental anomaly of metabolic origin' 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'has modifier' some 'congenital' 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'Congenital adrenal hyperplasia' 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'Congenital adrenal hyperplasia' http://www.orpha.net/ORDO/Orphanet_90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency 'Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency' SubClassOf '46,XX disorder of sex development induced by fetal androgens excess' 'Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency' SubClassOf 'Developmental anomaly of metabolic origin' 'Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency' SubClassOf 'has modifier' some 'congenital' 'Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency' SubClassOf 'Congenital adrenal hyperplasia' 'Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019593 'Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency' SubClassOf 'Congenital adrenal hyperplasia' http://www.orpha.net/ORDO/Orphanet_90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'has modifier' some 'congenital' 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf '46,XX disorder of sex development induced by fetal androgens excess' 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'Congenital adrenal hyperplasia' 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'female infertility' 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'male infertility' 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'Developmental anomaly of metabolic origin' 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019593 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'Congenital adrenal hyperplasia' http://www.orpha.net/ORDO/Orphanet_99135 6-phosphogluconate dehydrogenase deficiency '6-phosphogluconate dehydrogenase deficiency' SubClassOf 'Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies' '6-phosphogluconate dehydrogenase deficiency' SubClassOf 'normocytic anemia' '6-phosphogluconate dehydrogenase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99138 Hemolytic anemia due to erythrocyte adenosine deaminase overproduction 'Hemolytic anemia due to erythrocyte adenosine deaminase overproduction' SubClassOf 'Disorder of purine metabolism' 'Hemolytic anemia due to erythrocyte adenosine deaminase overproduction' SubClassOf 'familial hemolytic anemia' 'Hemolytic anemia due to erythrocyte adenosine deaminase overproduction' SubClassOf 'Disorder of purine metabolism' http://www.orpha.net/ORDO/Orphanet_268162 Intermediate maple syrup urine disease 'Intermediate maple syrup urine disease' SubClassOf 'Maple syrup urine disease' 'Intermediate maple syrup urine disease' SubClassOf 'Maple syrup urine disease' http://www.orpha.net/ORDO/Orphanet_281103 Keratinopathic ichthyosis 'Keratinopathic ichthyosis' SubClassOf 'Inherited non-syndromic ichthyosis' 'Keratinopathic ichthyosis' SubClassOf 'Inherited non-syndromic ichthyosis' http://www.ebi.ac.uk/efo/EFO_0003086 kidney disease 'kidney disease' SubClassOf 'abdominal and pelvic region disorder' http://www.orpha.net/ORDO/Orphanet_90186 Meige disease 'Meige disease' SubClassOf 'Milroy disease' 'Meige disease' SubClassOf 'craniofacial dystonia' 'Meige disease' SubClassOf 'neurovascular disorder' 'Meige disease' SubClassOf 'Rare genetic dystonia' http://purl.obolibrary.org/obo/MONDO_0004528 lymph node palisaded myofibroblastoma 'lymph node palisaded myofibroblastoma' SubClassOf 'abdominal and pelvic region disorder' http://www.ebi.ac.uk/efo/EFO_0003073 asymptomatic myeloma 'asymptomatic myeloma' SubClassOf 'multiple myeloma' 'asymptomatic myeloma' SubClassOf 'multiple myeloma' http://www.ebi.ac.uk/efo/EFO_0003096 Pick disease 'Pick disease' SubClassOf 'Frontotemporal dementia' 'Pick disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017276 http://www.ebi.ac.uk/efo/EFO_0003095 non-alcoholic fatty liver disease 'non-alcoholic fatty liver disease' SubClassOf 'fatty liver disease' 'non-alcoholic fatty liver disease' SubClassOf 'fatty liver disease' http://www.ebi.ac.uk/efo/EFO_0003099 Cushing syndrome 'Cushing syndrome' SubClassOf 'syndromic disease' 'Cushing syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0016541 acquired secondary polycythemia 'acquired secondary polycythemia' SubClassOf 'Secondary polycythemia' 'acquired secondary polycythemia' EquivalentTo 'Secondary polycythemia' and ('has modifier' some 'acquired') 'acquired secondary polycythemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020115 'acquired secondary polycythemia' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0020115 and ('has modifier' some 'acquired') http://purl.obolibrary.org/obo/MONDO_0004573 ariboflavinosis 'ariboflavinosis' SubClassOf 'Inborn errors of metabolism' 'ariboflavinosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019052 http://purl.obolibrary.org/obo/MONDO_0016556 transient congenital hypothyroidism due to neonatal factor 'transient congenital hypothyroidism due to neonatal factor' SubClassOf 'Congenital hypothyroidism' 'transient congenital hypothyroidism due to neonatal factor' SubClassOf 'transient congenital hypothyroidism' 'transient congenital hypothyroidism due to neonatal factor' SubClassOf 'transient congenital hypothyroidism' http://www.orpha.net/ORDO/Orphanet_90153 Mandibuloacral dysplasia with type A lipodystrophy 'Mandibuloacral dysplasia with type A lipodystrophy' SubClassOf 'Mandibuloacral dysplasia' 'Mandibuloacral dysplasia with type A lipodystrophy' SubClassOf 'laminopathy' 'Mandibuloacral dysplasia with type A lipodystrophy' SubClassOf 'Mandibuloacral dysplasia' http://purl.obolibrary.org/obo/MONDO_0004587 hereditary night blindness 'hereditary night blindness' SubClassOf 'night blindness' 'hereditary night blindness' SubClassOf 'Rare genetic neurological disorder' 'hereditary night blindness' SubClassOf 'night blindness' 'hereditary night blindness' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.orpha.net/ORDO/Orphanet_90154 Mandibuloacral dysplasia with type B lipodystrophy 'Mandibuloacral dysplasia with type B lipodystrophy' SubClassOf 'Mandibuloacral dysplasia' 'Mandibuloacral dysplasia with type B lipodystrophy' SubClassOf 'laminopathy' 'Mandibuloacral dysplasia with type B lipodystrophy' SubClassOf 'Mandibuloacral dysplasia' http://purl.obolibrary.org/obo/MONDO_0100390 acute myeloid leukemia, der12p 'acute myeloid leukemia, der12p' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, der12p' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017893 http://purl.obolibrary.org/obo/MONDO_0100391 acute myeloid leukemia, t(2;12) 'acute myeloid leukemia, t(2;12)' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, t(2;12)' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017893 http://purl.obolibrary.org/obo/MONDO_0100392 acute myeloid leukemia, t(11;17) 'acute myeloid leukemia, t(11;17)' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, t(11;17)' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017893 http://purl.obolibrary.org/obo/MONDO_0100393 acute myeloid leukemia, t(8;16) 'acute myeloid leukemia, t(8;16)' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, t(8;16)' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017893 http://purl.obolibrary.org/obo/MONDO_0100394 acute myeloid leukemia, t(1;22) 'acute myeloid leukemia, t(1;22)' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, t(1;22)' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017893 http://purl.obolibrary.org/obo/MONDO_0100395 acute myeloid leukemia, t(5;11)(q35;p15) 'acute myeloid leukemia, t(5;11)(q35;p15)' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, t(5;11)(q35;p15)' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017893 http://purl.obolibrary.org/obo/MONDO_0100396 acute myeloid leukemia, t(7;12)(q36;p13) 'acute myeloid leukemia, t(7;12)(q36;p13)' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, t(7;12)(q36;p13)' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017893 http://purl.obolibrary.org/obo/MONDO_0100397 acute myeloid leukemia, t(9;22)(q34.1;q11.2) 'acute myeloid leukemia, t(9;22)(q34.1;q11.2)' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, t(9;22)(q34.1;q11.2)' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017893 http://purl.obolibrary.org/obo/MONDO_0100398 acute myeloid leukemia, inv(3)(q21.3;q26.2) 'acute myeloid leukemia, inv(3)(q21.3;q26.2)' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, inv(3)(q21.3;q26.2)' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017893 http://purl.obolibrary.org/obo/MONDO_0100399 acute myeloid leukemia, t(3;3)(q21.3;q26.2) 'acute myeloid leukemia, t(3;3)(q21.3;q26.2)' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, t(3;3)(q21.3;q26.2)' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017893 http://www.orpha.net/ORDO/Orphanet_401935 14q24.1q24.3 microdeletion syndrome '14q24.1q24.3 microdeletion syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' '14q24.1q24.3 microdeletion syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '14q24.1q24.3 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 14' '14q24.1q24.3 microdeletion syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0100373 acute myeloid leukemia, inv(16)(p13.1;q22) 'acute myeloid leukemia, inv(16)(p13.1;q22)' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, inv(16)(p13.1;q22)' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017893 http://purl.obolibrary.org/obo/MONDO_0100374 acute myeloid leukemia, t(16;16)(p13.1;q22) 'acute myeloid leukemia, t(16;16)(p13.1;q22)' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, t(16;16)(p13.1;q22)' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017893 http://purl.obolibrary.org/obo/MONDO_0100375 acute myeloid leukemia, t(15;17)(q24;q21) 'acute myeloid leukemia, t(15;17)(q24;q21)' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, t(15;17)(q24;q21)' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017893 http://purl.obolibrary.org/obo/MONDO_0100376 acute myeloid leukemia, t(9;11)(p21.3;q23.3) 'acute myeloid leukemia, t(9;11)(p21.3;q23.3)' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, t(9;11)(p21.3;q23.3)' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017893 http://purl.obolibrary.org/obo/MONDO_0100377 acute myeloid leukemia, t(10;11)(p12;q23) 'acute myeloid leukemia, t(10;11)(p12;q23)' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, t(10;11)(p12;q23)' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017893 http://purl.obolibrary.org/obo/MONDO_0100378 acute myeloid leukemia, t(10;11)(p11.2;q23) 'acute myeloid leukemia, t(10;11)(p11.2;q23)' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, t(10;11)(p11.2;q23)' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017893 http://purl.obolibrary.org/obo/MONDO_0100379 acute myeloid leukemia, t(1;11)(q21;q23) 'acute myeloid leukemia, t(1;11)(q21;q23)' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, t(1;11)(q21;q23)' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017893 http://www.orpha.net/ORDO/Orphanet_31837 Pulmonary venoocclusive disease 'Pulmonary venoocclusive disease' SubClassOf 'Heritable pulmonary arterial hypertension' 'Pulmonary venoocclusive disease' SubClassOf 'Idiopathic and/or familial pulmonary arterial hypertension' 'Pulmonary venoocclusive disease' SubClassOf 'Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis' 'Pulmonary venoocclusive disease' SubClassOf 'Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis' http://www.orpha.net/ORDO/Orphanet_401923 9q31.1q31.3 microdeletion syndrome '9q31.1q31.3 microdeletion syndrome' SubClassOf 'Partial monosomy of the long arm of chromosome 9' '9q31.1q31.3 microdeletion syndrome' SubClassOf 'congenital nervous system disorder' '9q31.1q31.3 microdeletion syndrome' SubClassOf 'syndromic intellectual disability' '9q31.1q31.3 microdeletion syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' '9q31.1q31.3 microdeletion syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '9q31.1q31.3 microdeletion syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0100380 acute myeloid leukemia, t(4;11)(q21;q23) 'acute myeloid leukemia, t(4;11)(q21;q23)' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, t(4;11)(q21;q23)' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017893 http://purl.obolibrary.org/obo/MONDO_0100381 acute myeloid leukemia, t(6;11)(q27;q23) 'acute myeloid leukemia, t(6;11)(q27;q23)' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, t(6;11)(q27;q23)' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017893 http://purl.obolibrary.org/obo/MONDO_0100382 acute myeloid leukemia, t(6;9)(p23;q34.1) 'acute myeloid leukemia, t(6;9)(p23;q34.1)' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, t(6;9)(p23;q34.1)' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017893 http://purl.obolibrary.org/obo/MONDO_0100383 acute myeloid leukemia, t(11;19)(q23;p13) 'acute myeloid leukemia, t(11;19)(q23;p13)' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, t(11;19)(q23;p13)' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017893 http://purl.obolibrary.org/obo/MONDO_0100384 acute myeloid leukemia, t(11;19)(q23;p13.1) 'acute myeloid leukemia, t(11;19)(q23;p13.1)' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, t(11;19)(q23;p13.1)' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017893 http://purl.obolibrary.org/obo/MONDO_0100385 acute myeloid leukemia, t(11;19)(q23.3;p13.3) 'acute myeloid leukemia, t(11;19)(q23.3;p13.3)' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, t(11;19)(q23.3;p13.3)' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017893 http://purl.obolibrary.org/obo/MONDO_0100386 acute myeloid leukemia, t(v;11q23.3) 'acute myeloid leukemia, t(v;11q23.3)' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, t(v;11q23.3)' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017893 http://purl.obolibrary.org/obo/MONDO_0100387 acute myeloid leukemia, Monosomy 7 'acute myeloid leukemia, Monosomy 7' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, Monosomy 7' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017893 http://purl.obolibrary.org/obo/MONDO_0100388 acute myeloid leukemia, Monosomy 5 'acute myeloid leukemia, Monosomy 5' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, Monosomy 5' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017893 http://purl.obolibrary.org/obo/MONDO_0100389 acute myeloid leukemia, Trisomy 8 'acute myeloid leukemia, Trisomy 8' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, Trisomy 8' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017893 http://www.orpha.net/ORDO/Orphanet_401911 AXIN2-related attenuated familial adenomatous polyposis 'AXIN2-related attenuated familial adenomatous polyposis' SubClassOf 'Attenuated familial adenomatous polyposis' 'AXIN2-related attenuated familial adenomatous polyposis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0100358 ectodermal dysplasia WNT10A related 'ectodermal dysplasia WNT10A related' SubClassOf 'Ectodermal dysplasia syndrome' 'ectodermal dysplasia WNT10A related' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019287 http://www.orpha.net/ORDO/Orphanet_158038 Primary hemophagocytic lymphohistiocytosis 'Primary hemophagocytic lymphohistiocytosis' EquivalentTo 'hemophagocytic syndrome' and ('has modifier' some 'inherited') 'Primary hemophagocytic lymphohistiocytosis' SubClassOf 'hemophagocytic syndrome' 'Primary hemophagocytic lymphohistiocytosis' SubClassOf 'primary immunodeficiency disease' http://www.orpha.net/ORDO/Orphanet_401901 Huntington disease-like syndrome due to C9ORF72 expansions 'Huntington disease-like syndrome due to C9ORF72 expansions' SubClassOf 'Huntington disease-like syndrome' 'Huntington disease-like syndrome due to C9ORF72 expansions' SubClassOf 'Neurodegenerative disease with chorea' 'Huntington disease-like syndrome due to C9ORF72 expansions' SubClassOf 'disease has major feature' some 'dementia' 'Huntington disease-like syndrome due to C9ORF72 expansions' SubClassOf 'Genetic neurodegenerative disease with dementia' 'Huntington disease-like syndrome due to C9ORF72 expansions' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0100365 mucopolysaccharidosis or mucopolysaccharidosis-like disorder 'mucopolysaccharidosis or mucopolysaccharidosis-like disorder' SubClassOf 'Inborn errors of metabolism' 'mucopolysaccharidosis or mucopolysaccharidosis-like disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019052 http://www.orpha.net/ORDO/Orphanet_158029 Sea-blue histiocytosis 'Sea-blue histiocytosis' SubClassOf 'Rare syndromic dyslipidemia' 'Sea-blue histiocytosis' SubClassOf 'non-Langerhans cell histiocytosis' 'Sea-blue histiocytosis' SubClassOf 'Sphingolipidosis' 'Sea-blue histiocytosis' SubClassOf 'disease has feature' some 'histiocytoma' 'Sea-blue histiocytosis' SubClassOf 'Sphingolipidosis' http://www.orpha.net/ORDO/Orphanet_401859 Lipoic acid synthetase deficiency 'Lipoic acid synthetase deficiency' SubClassOf 'Rare syndromic dyslipidemia' 'Lipoic acid synthetase deficiency' SubClassOf 'Pyruvate dehydrogenase deficiency' 'Lipoic acid synthetase deficiency' SubClassOf 'Lipoic acid biosynthesis defect' 'Lipoic acid synthetase deficiency' SubClassOf 'Lipoic acid biosynthesis defect' http://www.orpha.net/ORDO/Orphanet_401854 Lipoic acid biosynthesis defect 'Lipoic acid biosynthesis defect' SubClassOf 'inherited fatty acid metabolism disorder' 'Lipoic acid biosynthesis defect' SubClassOf 'sulfur metabolism disease' 'Lipoic acid biosynthesis defect' SubClassOf 'inborn mitochondrial metabolism disorder' 'Lipoic acid biosynthesis defect' SubClassOf 'Mitochondrial disease' http://purl.obolibrary.org/obo/MONDO_0100450 CAPN5-related vitreoretinopathy 'CAPN5-related vitreoretinopathy' SubClassOf 'Vitreoretinopathy' 'CAPN5-related vitreoretinopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020246 http://purl.obolibrary.org/obo/MONDO_0100455 neonatal-onset developmental and epileptic encephalopathy 'neonatal-onset developmental and epileptic encephalopathy' SubClassOf 'Neonatal epilepsy syndrome' 'neonatal-onset developmental and epileptic encephalopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020070 http://www.orpha.net/ORDO/Orphanet_352487 Digital anomalies - intellectual disability - short stature 'Digital anomalies - intellectual disability - short stature' SubClassOf 'X-linked syndromic intellectual disability' 'Digital anomalies - intellectual disability - short stature' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 http://www.orpha.net/ORDO/Orphanet_401849 Autosomal recessive spastic paraplegia type 72 'Autosomal recessive spastic paraplegia type 72' SubClassOf 'Pure hereditary spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_401840 Autosomal recessive spastic paraplegia type 71 'Autosomal recessive spastic paraplegia type 71' SubClassOf 'Autosomal recessive pure spastic paraplegia' 'Autosomal recessive spastic paraplegia type 71' SubClassOf 'Autosomal recessive pure spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_352490 Autism spectrum disorder due to AUTS2 deficiency 'Autism spectrum disorder due to AUTS2 deficiency' SubClassOf 'intellectual disability, autosomal dominant' 'Autism spectrum disorder due to AUTS2 deficiency' SubClassOf 'congenital nervous system disorder' 'Autism spectrum disorder due to AUTS2 deficiency' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Autism spectrum disorder due to AUTS2 deficiency' SubClassOf 'syndromic intellectual disability' 'Autism spectrum disorder due to AUTS2 deficiency' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_401835 Autosomal recessive spastic paraplegia type 70 'Autosomal recessive spastic paraplegia type 70' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 70' SubClassOf 'Autosomal recessive complex spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_401830 Autosomal recessive spastic paraplegia type 69 'Autosomal recessive spastic paraplegia type 69' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 69' SubClassOf 'Autosomal recessive complex spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_401825 Autosomal recessive spastic paraplegia type 68 'Autosomal recessive spastic paraplegia type 68' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 68' SubClassOf 'Autosomal recessive complex spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_401820 Autosomal recessive spastic paraplegia type 67 'Autosomal recessive spastic paraplegia type 67' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 67' SubClassOf 'Autosomal recessive complex spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0100443 RDH5-related retinopathy 'RDH5-related retinopathy' SubClassOf 'Retinal dystrophy' 'RDH5-related retinopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019118 http://purl.obolibrary.org/obo/MONDO_0100444 RLBP1-related retinopathy 'RLBP1-related retinopathy' SubClassOf 'Retinal dystrophy' 'RLBP1-related retinopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019118 http://purl.obolibrary.org/obo/MONDO_0100449 FLVCR1-related retinopathy with or without ataxia 'FLVCR1-related retinopathy with or without ataxia' SubClassOf 'Autosomal recessive degenerative and progressive cerebellar ataxia' 'FLVCR1-related retinopathy with or without ataxia' SubClassOf 'Retinal dystrophy' 'FLVCR1-related retinopathy with or without ataxia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020046 'FLVCR1-related retinopathy with or without ataxia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019118 http://purl.obolibrary.org/obo/MONDO_0100410 acute myeloid leukemia, t(16;21)(p11;q22) 'acute myeloid leukemia, t(16;21)(p11;q22)' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, t(16;21)(p11;q22)' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017893 http://www.ebi.ac.uk/efo/EFO_0005626 pancolitis 'pancolitis' SubClassOf 'ulcerative colitis' 'pancolitis' SubClassOf 'ulcerative colitis' http://purl.obolibrary.org/obo/MONDO_0100412 acute myeloid leukemia, monoallelic CEBPA gene mutation 'acute myeloid leukemia, monoallelic CEBPA gene mutation' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, monoallelic CEBPA gene mutation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017893 http://purl.obolibrary.org/obo/MONDO_0100413 acute myeloid leukemia, biallelic CEBPA gene mutation 'acute myeloid leukemia, biallelic CEBPA gene mutation' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, biallelic CEBPA gene mutation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017893 http://purl.obolibrary.org/obo/MONDO_0100414 acute myeloid leukemia, CEBPA gene mutation 'acute myeloid leukemia, CEBPA gene mutation' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, CEBPA gene mutation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017893 http://purl.obolibrary.org/obo/MONDO_0100415 acute myeloid leukemia, FLT3 internal tandem duplication 'acute myeloid leukemia, FLT3 internal tandem duplication' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, FLT3 internal tandem duplication' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017893 http://purl.obolibrary.org/obo/MONDO_0100416 acute myeloid leukemia, FLT3 tyrosine kinase domain point mutation 'acute myeloid leukemia, FLT3 tyrosine kinase domain point mutation' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, FLT3 tyrosine kinase domain point mutation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017893 http://purl.obolibrary.org/obo/MONDO_0100417 acute myeloid leukemia, WT1 gene mutation 'acute myeloid leukemia, WT1 gene mutation' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, WT1 gene mutation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017893 http://purl.obolibrary.org/obo/MONDO_0100418 acute myeloid leukemia, KIT exon 17 mutation 'acute myeloid leukemia, KIT exon 17 mutation' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, KIT exon 17 mutation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017893 http://purl.obolibrary.org/obo/MONDO_0100419 acute myeloid leukemia, KIT exon 8 mutation 'acute myeloid leukemia, KIT exon 8 mutation' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, KIT exon 8 mutation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017893 http://purl.obolibrary.org/obo/MONDO_0100420 acute myeloid leukemia, KIT gene mutation 'acute myeloid leukemia, KIT gene mutation' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, KIT gene mutation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017893 http://purl.obolibrary.org/obo/MONDO_0100421 acute myeloid leukemia, GATA1 gene mutation 'acute myeloid leukemia, GATA1 gene mutation' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, GATA1 gene mutation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017893 http://purl.obolibrary.org/obo/MONDO_0100422 acute myeloid leukemia, RUNX1 gene mutation 'acute myeloid leukemia, RUNX1 gene mutation' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, RUNX1 gene mutation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017893 http://purl.obolibrary.org/obo/MONDO_0100423 acute myeloid leukemia, PTPN11 gene mutation 'acute myeloid leukemia, PTPN11 gene mutation' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, PTPN11 gene mutation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017893 http://purl.obolibrary.org/obo/MONDO_0100424 acute myeloid leukemia, NRAS gene mutation 'acute myeloid leukemia, NRAS gene mutation' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, NRAS gene mutation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017893 http://purl.obolibrary.org/obo/MONDO_0100425 acute myeloid leukemia, KRAS gene mutation 'acute myeloid leukemia, KRAS gene mutation' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, KRAS gene mutation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017893 http://www.orpha.net/ORDO/Orphanet_401874 Fatal multiple mitochondrial dysfunction syndrome type 2 'Fatal multiple mitochondrial dysfunction syndrome type 2' SubClassOf 'Fatal multiple mitochondrial dysfunction syndrome' 'Fatal multiple mitochondrial dysfunction syndrome type 2' SubClassOf 'Fatal multiple mitochondrial dysfunction syndrome' http://www.orpha.net/ORDO/Orphanet_401869 Fatal multiple mitochondrial dysfunction syndrome type 1 'Fatal multiple mitochondrial dysfunction syndrome type 1' SubClassOf 'Fatal multiple mitochondrial dysfunction syndrome' 'Fatal multiple mitochondrial dysfunction syndrome type 1' SubClassOf 'Fatal multiple mitochondrial dysfunction syndrome' http://www.orpha.net/ORDO/Orphanet_401866 Spasticity-ataxia-gait anomalies syndrome 'Spasticity-ataxia-gait anomalies syndrome' SubClassOf 'Spastic ataxia' 'Spasticity-ataxia-gait anomalies syndrome' SubClassOf 'Lipoic acid biosynthesis defect' 'Spasticity-ataxia-gait anomalies syndrome' SubClassOf 'Spastic ataxia' 'Spasticity-ataxia-gait anomalies syndrome' SubClassOf 'Lipoic acid biosynthesis defect' http://www.orpha.net/ORDO/Orphanet_401862 Lipoyl transferase 1 deficiency 'Lipoyl transferase 1 deficiency' SubClassOf 'Lipoic acid biosynthesis defect' 'Lipoyl transferase 1 deficiency' SubClassOf 'Lipoic acid biosynthesis defect' http://purl.obolibrary.org/obo/MONDO_0100400 acute myeloid leukemia, t(3;12)(q23;p12.3) 'acute myeloid leukemia, t(3;12)(q23;p12.3)' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, t(3;12)(q23;p12.3)' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017893 http://purl.obolibrary.org/obo/MONDO_0100401 acute myeloid leukemia, del(5q31-q32) 'acute myeloid leukemia, del(5q31-q32)' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, del(5q31-q32)' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017893 http://purl.obolibrary.org/obo/MONDO_0100402 acute myeloid leukemia, del(13q14-q21) 'acute myeloid leukemia, del(13q14-q21)' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, del(13q14-q21)' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017893 http://purl.obolibrary.org/obo/MONDO_0100403 acute myeloid leukemia, loss of chromosome 17p 'acute myeloid leukemia, loss of chromosome 17p' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, loss of chromosome 17p' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017893 http://purl.obolibrary.org/obo/MONDO_0100404 acute myeloid leukemia, MLL gene rearrangement 'acute myeloid leukemia, MLL gene rearrangement' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, MLL gene rearrangement' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017893 http://purl.obolibrary.org/obo/MONDO_0100405 acute myeloid leukemia, Non-KMT2A MLLT10 rearrangement positive 'acute myeloid leukemia, Non-KMT2A MLLT10 rearrangement positive' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, Non-KMT2A MLLT10 rearrangement positive' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017893 http://purl.obolibrary.org/obo/MONDO_0100406 acute myeloid leukemia, inv(16)(p13.3;q24.3) 'acute myeloid leukemia, inv(16)(p13.3;q24.3)' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, inv(16)(p13.3;q24.3)' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017893 http://purl.obolibrary.org/obo/MONDO_0100407 acute myeloid leukemia, t(11;15)(p15;q35) 'acute myeloid leukemia, t(11;15)(p15;q35)' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, t(11;15)(p15;q35)' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017893 http://purl.obolibrary.org/obo/MONDO_0100408 acute myeloid leukemia, t(16;21)(q24;q22) 'acute myeloid leukemia, t(16;21)(q24;q22)' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, t(16;21)(q24;q22)' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017893 http://purl.obolibrary.org/obo/MONDO_0100409 acute myeloid leukemia, t(3;5)(q25;q34) 'acute myeloid leukemia, t(3;5)(q25;q34)' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, t(3;5)(q25;q34)' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017893 http://www.orpha.net/ORDO/Orphanet_55881 Adamantinoma 'Adamantinoma' SubClassOf 'bone carcinoma' 'Adamantinoma' SubClassOf 'hereditary disorder of connective tissue' 'Adamantinoma' SubClassOf 'carcinoma' http://www.orpha.net/ORDO/Orphanet_293462 Pre-Descemet corneal dystrophy 'Pre-Descemet corneal dystrophy' SubClassOf 'Stromal corneal dystrophy' 'Pre-Descemet corneal dystrophy' SubClassOf 'Stromal corneal dystrophy' http://www.orpha.net/ORDO/Orphanet_352403 Spectrin-associated autosomal recessive cerebellar ataxia 'Spectrin-associated autosomal recessive cerebellar ataxia' SubClassOf 'Autosomal recessive cerebellar ataxia' 'Spectrin-associated autosomal recessive cerebellar ataxia' SubClassOf 'Autosomal recessive cerebellar ataxia' http://www.orpha.net/ORDO/Orphanet_77243 Lipedema 'Lipedema' SubClassOf 'Genetic subcutaneous tissue disorder' 'Lipedema' SubClassOf 'subcutaneous tissue disorder' 'Lipedema' SubClassOf 'Milroy disease' 'Lipedema' SubClassOf 'has modifier' some 'rare' 'Lipedema' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_77240 Primary lymphedema 'Primary lymphedema' SubClassOf 'Lymphedema' 'Primary lymphedema' SubClassOf 'simple vascular malformation' 'Primary lymphedema' SubClassOf 'Lymphedema' http://www.orpha.net/ORDO/Orphanet_53271 Muenke syndrome 'Muenke syndrome' SubClassOf 'Syndromic craniosynostosis' 'Muenke syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0005684 RNA-seq of coding RNA from single cells 'RNA-seq of coding RNA from single cells' SubClassOf 'single cell sequencing' 'RNA-seq of coding RNA from single cells' SubClassOf 'single-cell RNA sequencing' http://www.ebi.ac.uk/efo/EFO_0005685 RNA-seq of non coding RNA from single cells 'RNA-seq of non coding RNA from single cells' SubClassOf 'single cell sequencing' 'RNA-seq of non coding RNA from single cells' SubClassOf 'single-cell RNA sequencing' http://www.ebi.ac.uk/efo/EFO_0005687 fibromyalgia 'fibromyalgia' SubClassOf 'syndromic disease' 'fibromyalgia' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0005672 acute coronary syndrome 'acute coronary syndrome' SubClassOf 'syndromic disease' 'acute coronary syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0003016 collecting duct carcinoma 'collecting duct carcinoma' SubClassOf 'renal cell carcinoma' 'collecting duct carcinoma' SubClassOf 'renal cell carcinoma' http://www.ebi.ac.uk/efo/EFO_0003017 transitional cell carcinoma of kidney 'transitional cell carcinoma of kidney' SubClassOf 'renal pelvis carcinoma' 'transitional cell carcinoma of kidney' SubClassOf 'renal pelvis carcinoma' http://www.ebi.ac.uk/efo/EFO_0003047 hepatitis C virus infection 'hepatitis C virus infection' SubClassOf 'viral human hepatitis infection' 'hepatitis C virus infection' SubClassOf 'viral human hepatitis infection' http://www.orpha.net/ORDO/Orphanet_352447 Progressive external ophthalmoplegia - myopathy - emaciation 'Progressive external ophthalmoplegia - myopathy - emaciation' SubClassOf 'Mitochondrial DNA depletion syndrome' 'Progressive external ophthalmoplegia - myopathy - emaciation' SubClassOf 'Mitochondrial DNA maintenance syndrome' http://www.ebi.ac.uk/efo/EFO_0003033 bacteriemia 'bacteriemia' SubClassOf 'bacterial disease' 'bacteriemia' SubClassOf 'bacterial disease' http://www.orpha.net/ORDO/Orphanet_352456 Mitochondrial DNA maintenance syndrome 'Mitochondrial DNA maintenance syndrome' SubClassOf 'Mitochondrial oxidative phosphorylation disorder' http://purl.obolibrary.org/obo/MONDO_0004617 recurrent hypersomnia 'recurrent hypersomnia' SubClassOf 'sleep-wake disorder' 'recurrent hypersomnia' SubClassOf 'sleep-wake disorder' http://www.ebi.ac.uk/efo/EFO_0003060 non-small cell lung carcinoma 'non-small cell lung carcinoma' SubClassOf 'lung carcinoma' 'non-small cell lung carcinoma' SubClassOf 'lung carcinoma' http://www.ebi.ac.uk/efo/EFO_0003063 polymyositis 'polymyositis' SubClassOf 'Genetic peripheral neuropathy' http://www.orpha.net/ORDO/Orphanet_53296 Familial cutaneous collagenoma 'Familial cutaneous collagenoma' SubClassOf 'Genetic dermis elastic tissue disorder' 'Familial cutaneous collagenoma' SubClassOf 'Genetic dermis elastic tissue disorder' http://www.orpha.net/ORDO/Orphanet_77261 Gaucher disease type 3 'Gaucher disease type 3' SubClassOf 'secondary avascular necrosis' 'Gaucher disease type 3' SubClassOf 'Gaucher disease' 'Gaucher disease type 3' SubClassOf 'interstitial lung disease specific to childhood' 'Gaucher disease type 3' SubClassOf 'Avascular necrosis of genetic origin' 'Gaucher disease type 3' SubClassOf 'Neurometabolic disease' 'Gaucher disease type 3' SubClassOf 'cerebral lipidosis with dementia' 'Gaucher disease type 3' SubClassOf 'Neurometabolic disease' 'Gaucher disease type 3' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018150 http://www.orpha.net/ORDO/Orphanet_77260 Gaucher disease type 2 'Gaucher disease type 2' SubClassOf 'Gaucher disease' 'Gaucher disease type 2' SubClassOf 'cerebral lipidosis with dementia' 'Gaucher disease type 2' SubClassOf 'interstitial lung disease specific to childhood' 'Gaucher disease type 2' SubClassOf 'Neurometabolic disease' 'Gaucher disease type 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018150 'Gaucher disease type 2' SubClassOf 'Neurometabolic disease' http://www.ebi.ac.uk/efo/EFO_0003050 large cell lung carcinoma 'large cell lung carcinoma' SubClassOf 'large cell carcinoma' 'large cell lung carcinoma' SubClassOf 'large cell carcinoma' http://www.orpha.net/ORDO/Orphanet_65287 Beta-ureidopropionase deficiency 'Beta-ureidopropionase deficiency' SubClassOf 'Neurometabolic disease' 'Beta-ureidopropionase deficiency' SubClassOf 'Disorder of pyrimidine metabolism' 'Beta-ureidopropionase deficiency' SubClassOf 'Neurometabolic disease' 'Beta-ureidopropionase deficiency' SubClassOf 'Disorder of pyrimidine metabolism' http://purl.obolibrary.org/obo/MONDO_0004630 substance-induced psychosis 'substance-induced psychosis' SubClassOf 'psychosis' 'substance-induced psychosis' SubClassOf 'psychosis' http://www.orpha.net/ORDO/Orphanet_65286 3q29 microdeletion syndrome '3q29 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 3' '3q29 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 3' http://www.orpha.net/ORDO/Orphanet_65288 Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis 'Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis' SubClassOf 'Rare genetic neurological disorder' 'Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis' SubClassOf 'Developmental anomaly of metabolic origin' 'Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis' SubClassOf 'Neonatal diabetes mellitus' 'Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis' SubClassOf 'central nervous system malformation' 'Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis' SubClassOf 'Neonatal diabetes mellitus' http://www.orpha.net/ORDO/Orphanet_65283 Timothy syndrome 'Timothy syndrome' SubClassOf 'Familial long QT syndrome' 'Timothy syndrome' SubClassOf 'disease has feature' some 'ventricular fibrillation' 'Timothy syndrome' SubClassOf 'autosomal dominant disease' 'Timothy syndrome' SubClassOf 'disease has feature' some 'heart conduction disease' 'Timothy syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_65282 Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome 'Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome' SubClassOf 'Syndrome associated with dilated cardiomyopathy' 'Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome' SubClassOf 'Autosomal recessive disease with focal palmoplantar keratoderma as a major feature' 'Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_65285 Lhermitte-Duclos disease 'Lhermitte-Duclos disease' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Lhermitte-Duclos disease' SubClassOf 'Rare genetic neurological disorder' 'Lhermitte-Duclos disease' SubClassOf 'mixed neuronal-glial tumor' 'Lhermitte-Duclos disease' SubClassOf 'central nervous system malformation' 'Lhermitte-Duclos disease' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' 'Lhermitte-Duclos disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_65284 Biotin-responsive basal ganglia disease 'Biotin-responsive basal ganglia disease' SubClassOf 'Neurometabolic disease' 'Biotin-responsive basal ganglia disease' SubClassOf 'basal ganglia disease' 'Biotin-responsive basal ganglia disease' SubClassOf 'toxic encephalopathy' 'Biotin-responsive basal ganglia disease' SubClassOf 'thiamine-responsive dysfunction syndrome' 'Biotin-responsive basal ganglia disease' SubClassOf 'Neurometabolic disease' 'Biotin-responsive basal ganglia disease' SubClassOf 'Disorder of thiamine metabolism and transport' 'Biotin-responsive basal ganglia disease' SubClassOf 'basal ganglia disease' 'Biotin-responsive basal ganglia disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.orpha.net/ORDO/Orphanet_77258 Trichorhinophalangeal syndrome type 1 and 3 'Langer-Giedion syndrome' DisjointWith 'Trichorhinophalangeal syndrome type 1 and 3' 'Trichorhinophalangeal syndrome type 1 and 3' SubClassOf 'Trichorhinophalangeal syndrome' 'Trichorhinophalangeal syndrome type 1 and 3' EquivalentTo 'trichorhinophalangeal syndrome type I' or 'trichorhinophalangeal syndrome, type III' 'Trichorhinophalangeal syndrome type 1 and 3' SubClassOf 'autosomal dominant disease' 'Trichorhinophalangeal syndrome type 1 and 3' SubClassOf 'Trichorhinophalangeal syndrome' http://www.orpha.net/ORDO/Orphanet_77259 Gaucher disease type 1 'Gaucher disease type 1' SubClassOf 'Avascular necrosis of genetic origin' 'Gaucher disease type 1' SubClassOf 'secondary avascular necrosis' 'Gaucher disease type 1' SubClassOf 'cerebral lipidosis with dementia' 'Gaucher disease type 1' SubClassOf 'Gaucher disease' 'Gaucher disease type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018150 http://www.orpha.net/ORDO/Orphanet_352479 Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency 'Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency' SubClassOf 'muscular dystrophy-dystroglycanopathy, type C' 'Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency' SubClassOf 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' 'Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency' SubClassOf 'Disorder of O-mannosylglycan synthesis' 'Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency' SubClassOf 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' 'Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency' SubClassOf 'Disorder of O-mannosylglycan synthesis' http://www.orpha.net/ORDO/Orphanet_352470 Mitochondrial DNA deletion syndrome with progressive myopathy 'Mitochondrial DNA deletion syndrome with progressive myopathy' SubClassOf 'Multiple mitochondrial DNA deletion syndrome' 'Mitochondrial DNA deletion syndrome with progressive myopathy' SubClassOf 'progressive external ophthalmoplegia with mitochondrial DNA deletions' 'Mitochondrial DNA deletion syndrome with progressive myopathy' SubClassOf 'Multiple mitochondrial DNA deletion syndrome' 'Mitochondrial DNA deletion syndrome with progressive myopathy' SubClassOf 'Mitochondrial myopathy' http://purl.obolibrary.org/obo/MONDO_0004427 supraglottis neoplasm 'supraglottis neoplasm' SubClassOf 'laryngeal neoplasm' 'supraglottis neoplasm' SubClassOf 'laryngeal neoplasm' http://purl.obolibrary.org/obo/MONDO_0004435 liver fibrosarcoma 'liver fibrosarcoma' SubClassOf 'fibrosarcoma' 'liver fibrosarcoma' SubClassOf 'fibrosarcoma' http://www.orpha.net/ORDO/Orphanet_220497 Joubert syndrome with renal defect 'Joubert syndrome with renal defect' SubClassOf 'Familial cystic renal disease' 'Joubert syndrome with renal defect' SubClassOf 'Joubert syndrome' 'Joubert syndrome with renal defect' SubClassOf 'nephropathy-associated ciliopathy' 'Joubert syndrome with renal defect' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Joubert syndrome with renal defect' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' 'Joubert syndrome with renal defect' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_220493 Joubert syndrome with ocular defect 'Joubert syndrome with ocular defect' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Joubert syndrome with ocular defect' SubClassOf 'Oculomotor apraxia or related oculomotor disease' 'Joubert syndrome with ocular defect' SubClassOf 'Joubert syndrome and related disorders' 'Joubert syndrome with ocular defect' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' 'Joubert syndrome with ocular defect' SubClassOf 'Syndromic retinitis pigmentosa' 'Joubert syndrome with ocular defect' SubClassOf 'central nervous system malformation' 'Joubert syndrome with ocular defect' SubClassOf 'Syndrome with a symptomatic strabismus' 'Joubert syndrome with ocular defect' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_90026 Primary erythermalgia 'Primary erythermalgia' SubClassOf 'Erythromelalgia' 'Primary erythermalgia' SubClassOf 'Autosomal dominant hereditary sensory and autonomic neuropathy' http://www.orpha.net/ORDO/Orphanet_90023 Primary immunodeficiency syndrome due to p14 deficiency 'Primary immunodeficiency syndrome due to p14 deficiency' SubClassOf 'Constitutional neutropenia' http://www.orpha.net/ORDO/Orphanet_90025 Syndactyly 'Syndactyly' SubClassOf 'Non-syndromic polydactyly, syndactyly and/or hyperphalangy' 'Syndactyly' SubClassOf 'syndactyly' 'syndromic disease' DisjointWith 'Syndactyly' 'Syndactyly' SubClassOf 'Non-syndromic polydactyly, syndactyly and/or hyperphalangy' http://www.orpha.net/ORDO/Orphanet_90024 Deafness with labyrinthine aplasia, microtia, and microdontia 'Deafness with labyrinthine aplasia, microtia, and microdontia' SubClassOf 'Syndromic genetic deafness' 'Deafness with labyrinthine aplasia, microtia, and microdontia' SubClassOf 'Syndromic genetic deafness' http://purl.obolibrary.org/obo/MONDO_0016434 acquired dermis elastic tissue disorder 'acquired dermis elastic tissue disorder' SubClassOf 'Genetic dermis elastic tissue disorder' 'acquired dermis elastic tissue disorder' EquivalentTo 'Genetic dermis elastic tissue disorder' and ('has modifier' some 'acquired') 'acquired dermis elastic tissue disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019292 'acquired dermis elastic tissue disorder' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0019292 and ('has modifier' some 'acquired') http://www.orpha.net/ORDO/Orphanet_90030 Hemolytic anemia due to glutathione reductase deficiency 'Hemolytic anemia due to glutathione reductase deficiency' SubClassOf 'normocytic anemia' http://www.orpha.net/ORDO/Orphanet_90031 Non-spherocytic hemolytic anemia due to hexokinase deficiency 'Non-spherocytic hemolytic anemia due to hexokinase deficiency' SubClassOf 'familial hemolytic anemia' 'Non-spherocytic hemolytic anemia due to hexokinase deficiency' SubClassOf 'anemia due to erythrocyte enzyme disorder' http://www.orpha.net/ORDO/Orphanet_90039 Hemoglobin D disease 'Hemoglobin D disease' SubClassOf 'anemia' 'Hemoglobin D disease' SubClassOf 'inherited hemoglobinopathy' http://purl.obolibrary.org/obo/MONDO_0016446 acquired cutis laxa 'acquired cutis laxa' SubClassOf 'Cutis laxa' 'acquired cutis laxa' SubClassOf 'inherited cutis laxa' 'acquired cutis laxa' EquivalentTo 'Cutis laxa' and ('has modifier' some 'acquired') 'acquired cutis laxa' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016175 'acquired cutis laxa' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0016175 and ('has modifier' some 'acquired') http://www.orpha.net/ORDO/Orphanet_90042 Primary familial polycythemia 'Primary familial polycythemia' SubClassOf 'Genetic polycythemia' 'Primary familial polycythemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_90045 Hereditary folate malabsorption 'Hereditary folate malabsorption' SubClassOf 'Intestinal disease due to vitamin absorption anomaly' 'Hereditary folate malabsorption' SubClassOf 'Disorder of folate metabolism and transport' 'Hereditary folate malabsorption' SubClassOf 'megaloblastic anemia' 'Hereditary folate malabsorption' SubClassOf 'Primary immunodeficiency due to a defect in adaptive immunity' 'Hereditary folate malabsorption' SubClassOf 'Intestinal disease due to vitamin absorption anomaly' 'Hereditary folate malabsorption' SubClassOf 'Disorder of folate metabolism and transport' http://www.orpha.net/ORDO/Orphanet_90044 Familial pseudohyperkalemia 'Familial pseudohyperkalemia' SubClassOf 'Hereditary stomatocytosis' 'Familial pseudohyperkalemia' SubClassOf 'familial hemolytic anemia' 'Familial pseudohyperkalemia' SubClassOf 'Hereditary stomatocytosis' http://purl.obolibrary.org/obo/MONDO_0004479 malignant childhood germ cell neoplasm 'malignant childhood germ cell neoplasm' SubClassOf 'childhood germ cell tumor' 'malignant childhood germ cell neoplasm' SubClassOf 'childhood germ cell tumor' http://purl.obolibrary.org/obo/MONDO_0100294 mitochondrial complex II deficiency, nuclear type 1 'mitochondrial complex II deficiency, nuclear type 1' SubClassOf 'Isolated oxidative phosphorylation complex disorder' 'mitochondrial complex II deficiency, nuclear type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016805 http://purl.obolibrary.org/obo/MONDO_0004483 thyroid gland oncocytic adenoma 'thyroid gland oncocytic adenoma' SubClassOf 'oxyphilic adenoma' 'thyroid gland oncocytic adenoma' SubClassOf 'follicular thyroid adenoma' 'thyroid gland oncocytic adenoma' SubClassOf 'oxyphilic adenoma' 'thyroid gland oncocytic adenoma' SubClassOf 'follicular thyroid adenoma' http://purl.obolibrary.org/obo/MONDO_0100276 disorder of defective peroxisomal and mitochondrial fission 'disorder of defective peroxisomal and mitochondrial fission' SubClassOf 'Peroxisomal disease' 'disorder of defective peroxisomal and mitochondrial fission' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019053 http://purl.obolibrary.org/obo/MONDO_0100278 alanine glyoxylate aminotransferase deficiency 'alanine glyoxylate aminotransferase deficiency' SubClassOf 'Disorder of glyoxylate metabolism' 'alanine glyoxylate aminotransferase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017703 http://purl.obolibrary.org/obo/MONDO_0100283 overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes 'overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes' SubClassOf 'Rare genetic neurological disorder' 'overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes' SubClassOf 'Genetic overgrowth/obesity syndrome' 'overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015330 http://purl.obolibrary.org/obo/MONDO_0100284 X-linked intellectual disability 'X-linked intellectual disability' SubClassOf 'Rare genetic neurological disorder' 'X-linked intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://purl.obolibrary.org/obo/MONDO_0016493 variant of Guillain-Barre syndrome 'variant of Guillain-Barre syndrome' SubClassOf 'Guillain-Barre syndrome' 'variant of Guillain-Barre syndrome' SubClassOf 'Guillain-Barre syndrome' http://purl.obolibrary.org/obo/MONDO_0016494 regional variant of Guillain-Barre syndrome 'regional variant of Guillain-Barre syndrome' SubClassOf 'variant of Guillain-Barre syndrome' 'regional variant of Guillain-Barre syndrome' SubClassOf 'variant of Guillain-Barre syndrome' http://purl.obolibrary.org/obo/MONDO_0100255 adenosine kinase deficiency 'adenosine kinase deficiency' SubClassOf 'Cerebral organic aciduria' 'adenosine kinase deficiency' SubClassOf 'Neurometabolic disease' 'adenosine kinase deficiency' SubClassOf 'Autosomal recessive non-syndromic intellectual disability' 'adenosine kinase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019058 'adenosine kinase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019213 'adenosine kinase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019502 http://purl.obolibrary.org/obo/MONDO_0100257 peroxisomal single enzyme/protein defect 'peroxisomal single enzyme/protein defect' SubClassOf 'Peroxisomal disease' 'peroxisomal single enzyme/protein defect' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019053 http://www.orpha.net/ORDO/Orphanet_220448 Macrothrombocytopenia with mitral valve insufficiency 'Macrothrombocytopenia with mitral valve insufficiency' SubClassOf 'syndromic constitutional thrombocytopenia' http://www.orpha.net/ORDO/Orphanet_220443 Bleeding diathesis due to thromboxane synthesis deficiency 'Bleeding diathesis due to thromboxane synthesis deficiency' SubClassOf 'inherited disease susceptibility' 'Bleeding diathesis due to thromboxane synthesis deficiency' SubClassOf 'inherited bleeding disorder, platelet-type' 'Bleeding diathesis due to thromboxane synthesis deficiency' SubClassOf 'isolated constitutional thrombocytopenia' http://purl.obolibrary.org/obo/MONDO_0100265 peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain 'peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain' SubClassOf 'Rhizomelic chondrodysplasia punctata' 'peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015905 'peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015776 http://purl.obolibrary.org/obo/MONDO_0100266 peroxisome biogenesis disorder due to PEX12 defect 'peroxisome biogenesis disorder due to PEX12 defect' SubClassOf 'Zellweger syndrome' 'peroxisome biogenesis disorder due to PEX12 defect' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019609 http://www.orpha.net/ORDO/Orphanet_220436 Quebec platelet disorder 'Quebec platelet disorder' SubClassOf 'Alpha granule disease' 'Quebec platelet disorder' SubClassOf 'inherited bleeding disorder, platelet-type' 'Quebec platelet disorder' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_31709 Infantile convulsions and choreoathetosis 'Infantile convulsions and choreoathetosis' SubClassOf 'Benign partial infantile seizures' 'Infantile convulsions and choreoathetosis' SubClassOf 'Paroxysmal dyskinesia' 'Infantile convulsions and choreoathetosis' SubClassOf 'syndromic disease' 'Infantile convulsions and choreoathetosis' SubClassOf 'Benign partial infantile seizures' 'Infantile convulsions and choreoathetosis' SubClassOf 'Paroxysmal dyskinesia' http://purl.obolibrary.org/obo/MONDO_0100237 inherited cutis laxa 'inherited cutis laxa' SubClassOf 'Congenital entropion' 'inherited cutis laxa' SubClassOf 'syndromic diaphragmatic or thoracic malformation' 'inherited cutis laxa' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'inherited cutis laxa' SubClassOf 'syndromic diaphragmatic or abdominal wall malformation' 'inherited cutis laxa' EquivalentTo 'Cutis laxa' and ('has modifier' some 'inherited') 'inherited cutis laxa' SubClassOf 'Cutis laxa' 'inherited cutis laxa' SubClassOf 'Genetic dermis elastic tissue disorder' 'inherited cutis laxa' SubClassOf 'Malformation syndrome with connective tissue involvement' 'inherited cutis laxa' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0016175 and ('has modifier' some 'inherited') 'inherited cutis laxa' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016175 'inherited cutis laxa' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0100238 inherited Fanconi renotubular syndrome 'inherited Fanconi renotubular syndrome' SubClassOf 'Genetic renal tubular disease' 'inherited Fanconi renotubular syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015962 http://www.orpha.net/ORDO/Orphanet_220465 Laron syndrome with immunodeficiency 'Laron syndrome with immunodeficiency' SubClassOf 'Growth hormone insensitivity syndrome' 'Laron syndrome with immunodeficiency' SubClassOf 'Combined T and B cell immunodeficiency' 'Laron syndrome with immunodeficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_220460 Attenuated familial adenomatous polyposis 'Attenuated familial adenomatous polyposis' SubClassOf 'classic or attenuated familial adenomatous polyposis' 'Attenuated familial adenomatous polyposis' SubClassOf 'Genetic digestive tract tumor' http://purl.obolibrary.org/obo/MONDO_0100240 inherited thrombophilia 'inherited thrombophilia' SubClassOf 'Rare genetic coagulation disorder' 'inherited thrombophilia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021181 http://purl.obolibrary.org/obo/MONDO_0100247 multiple congenital anomalies-hypotonia-seizures syndrome 'multiple congenital anomalies-hypotonia-seizures syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'multiple congenital anomalies-hypotonia-seizures syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015159 'multiple congenital anomalies-hypotonia-seizures syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043005 http://www.orpha.net/ORDO/Orphanet_220452 Inherited giant platelet disorder 'Inherited giant platelet disorder' SubClassOf 'isolated constitutional thrombocytopenia' http://www.orpha.net/ORDO/Orphanet_401979 Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type 'Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type' SubClassOf 'Spondylometaphyseal dysplasia' 'Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type' SubClassOf 'Spondylodysplastic dysplasia' 'Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type' SubClassOf 'Spondylodysplastic dysplasia' http://www.orpha.net/ORDO/Orphanet_401973 MEND syndrome 'MEND syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'MEND syndrome' SubClassOf 'Rare syndromic dyslipidemia' 'MEND syndrome' SubClassOf 'Sterol biosynthesis disorder' 'MEND syndrome' SubClassOf 'syndromic intellectual disability' 'MEND syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_401964 Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons 'Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons' SubClassOf 'Autosomal dominant Charcot-Marie-Tooth disease type 2' 'Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0100348 neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities 'neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities' SubClassOf 'Rare genetic neurological disorder' 'neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.orpha.net/ORDO/Orphanet_401959 Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome 'Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome' SubClassOf 'cerebral malformation' 'Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' http://www.orpha.net/ORDO/Orphanet_401953 Episodic ataxia with slurred speech 'Episodic ataxia with slurred speech' SubClassOf 'Hereditary episodic ataxia' 'Episodic ataxia with slurred speech' SubClassOf 'Hereditary episodic ataxia' http://www.orpha.net/ORDO/Orphanet_401945 Moyamoya disease with early-onset achalasia 'Moyamoya disease with early-onset achalasia' SubClassOf 'Moyamoya disease' 'Moyamoya disease with early-onset achalasia' SubClassOf 'Genetic gastro-esophageal disease' 'Moyamoya disease with early-onset achalasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_401948 Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency 'Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency' SubClassOf 'urea cycle disorder' 'Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency' SubClassOf 'Gluconeogenesis disorder' 'Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency' SubClassOf 'Gluconeogenesis disorder' http://www.orpha.net/ORDO/Orphanet_401942 Familial median cleft of the upper and lower lips 'Familial median cleft of the upper and lower lips' SubClassOf 'orofacial cleft' 'Familial median cleft of the upper and lower lips' SubClassOf 'median facial cleft' 'Familial median cleft of the upper and lower lips' SubClassOf 'Genetic head and neck malformation' 'Familial median cleft of the upper and lower lips' SubClassOf 'Genetic head and neck malformation' http://purl.obolibrary.org/obo/MONDO_0100322 non-Zellweger spectrum disorder 'non-Zellweger spectrum disorder' SubClassOf 'Peroxisome biogenesis disorder-Zellweger syndrome spectrum' 'non-Zellweger spectrum disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019234 http://www.orpha.net/ORDO/Orphanet_109011 Non-syndromic limb malformation 'Non-syndromic limb malformation' SubClassOf 'congenital limb malformation' 'Non-syndromic limb malformation' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_293381 Epithelial recurrent erosion dystrophy 'Epithelial recurrent erosion dystrophy' SubClassOf 'Superficial corneal dystrophy' 'Epithelial recurrent erosion dystrophy' SubClassOf 'Superficial corneal dystrophy' http://www.orpha.net/ORDO/Orphanet_401996 Karyomegalic interstitial nephritis 'Karyomegalic interstitial nephritis' SubClassOf 'interstitial nephritis' 'Karyomegalic interstitial nephritis' SubClassOf 'Familial cystic renal disease' 'Karyomegalic interstitial nephritis' SubClassOf 'Familial cystic renal disease' http://www.ebi.ac.uk/efo/EFO_0005524 large artery stroke 'large artery stroke' SubClassOf 'stroke' 'large artery stroke' SubClassOf 'stroke' http://www.orpha.net/ORDO/Orphanet_401993 Cold-induced sweating syndrome-hyperthermia spectrum 'Cold-induced sweating syndrome-hyperthermia spectrum' SubClassOf 'Hereditary sensory and autonomic neuropathy' 'Cold-induced sweating syndrome-hyperthermia spectrum' SubClassOf 'Hereditary sensory and autonomic neuropathy' http://www.orpha.net/ORDO/Orphanet_401986 1p31p32 microdeletion syndrome '1p31p32 microdeletion syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' '1p31p32 microdeletion syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 1' '1p31p32 microdeletion syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' '1p31p32 microdeletion syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0005540 bile duct carcinoma 'bile duct carcinoma' SubClassOf 'bile duct cancer' 'bile duct carcinoma' SubClassOf 'bile duct cancer' http://www.ebi.ac.uk/efo/EFO_0005545 congenital disorder of glycosylation type I 'congenital disorder of glycosylation type I' SubClassOf 'Congenital disorder of glycosylation' 'congenital disorder of glycosylation type I' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015286 'congenital disorder of glycosylation type I' SubClassOf 'Congenital disorder of glycosylation' http://www.ebi.ac.uk/efo/EFO_0005546 congenital disorder of glycosylation type II 'congenital disorder of glycosylation type II' SubClassOf 'Congenital disorder of glycosylation' 'congenital disorder of glycosylation type II' SubClassOf 'Congenital disorder of glycosylation' 'congenital disorder of glycosylation type II' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015286 http://www.ebi.ac.uk/efo/EFO_0005548 developmental disorder of mental health 'developmental disorder of mental health' SubClassOf 'mental or behavioural disorder' 'developmental disorder of mental health' SubClassOf 'mental or behavioural disorder' http://www.orpha.net/ORDO/Orphanet_268384 Thoracolumbosacral spina bifida aperta 'Thoracolumbosacral spina bifida aperta' SubClassOf 'Spina bifida aperta' 'Thoracolumbosacral spina bifida aperta' SubClassOf 'Spina bifida aperta' http://www.orpha.net/ORDO/Orphanet_268388 Lumbosacral spina bifida aperta 'Lumbosacral spina bifida aperta' SubClassOf 'Spina bifida aperta' 'Lumbosacral spina bifida aperta' SubClassOf 'Spina bifida aperta' http://www.orpha.net/ORDO/Orphanet_90103 Charcot-Marie-Tooth disease - deafness - intellectual disability 'Charcot-Marie-Tooth disease - deafness - intellectual disability' SubClassOf 'syndromic intellectual disability' 'Charcot-Marie-Tooth disease - deafness - intellectual disability' SubClassOf 'Syndromic genetic deafness' 'Charcot-Marie-Tooth disease - deafness - intellectual disability' SubClassOf 'Autosomal recessive hereditary demyelinating motor and sensory neuropathy' 'Charcot-Marie-Tooth disease - deafness - intellectual disability' SubClassOf 'Syndromic genetic deafness' 'Charcot-Marie-Tooth disease - deafness - intellectual disability' SubClassOf 'Autosomal recessive hereditary demyelinating motor and sensory neuropathy' 'Charcot-Marie-Tooth disease - deafness - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015626 http://www.ebi.ac.uk/efo/EFO_0005539 adrenal gland disease 'adrenal gland disease' SubClassOf 'abdominal and pelvic region disorder' http://www.orpha.net/ORDO/Orphanet_352530 Intellectual disability - obesity - brain malformations - facial dysmorphism 'Intellectual disability - obesity - brain malformations - facial dysmorphism' SubClassOf 'syndromic intellectual disability' 'Intellectual disability - obesity - brain malformations - facial dysmorphism' SubClassOf 'Syndromic obesity' 'Intellectual disability - obesity - brain malformations - facial dysmorphism' SubClassOf 'Syndromic obesity' http://www.orpha.net/ORDO/Orphanet_268377 Total spina bifida aperta 'Total spina bifida aperta' SubClassOf 'Spina bifida aperta' 'Total spina bifida aperta' SubClassOf 'Spina bifida aperta' http://www.orpha.net/ORDO/Orphanet_90114 Autosomal dominant intermediate Charcot-Marie-Tooth disease 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' SubClassOf 'intermediate Charcot-Marie-Tooth disease' 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' SubClassOf 'autosomal dominant disease' 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015626 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' SubClassOf 'Hereditary motor and sensory neuropathy' http://www.orpha.net/ORDO/Orphanet_364526 Primary bone dysplasia 'Primary bone dysplasia' SubClassOf 'has modifier' some 'rare' 'Primary bone dysplasia' SubClassOf 'bone development disease' http://www.orpha.net/ORDO/Orphanet_90117 Hereditary motor and sensory neuropathy, Okinawa type 'Hereditary motor and sensory neuropathy, Okinawa type' SubClassOf 'Autosomal dominant hereditary axonal motor and sensory neuropathy' 'Hereditary motor and sensory neuropathy, Okinawa type' SubClassOf 'motor peripheral neuropathy' 'Hereditary motor and sensory neuropathy, Okinawa type' SubClassOf 'Autosomal dominant hereditary axonal motor and sensory neuropathy' 'Hereditary motor and sensory neuropathy, Okinawa type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015626 http://www.ebi.ac.uk/efo/EFO_0005567 malignant peritoneal mesothelioma 'malignant peritoneal mesothelioma' SubClassOf 'Malignant Mesothelioma' 'malignant peritoneal mesothelioma' SubClassOf 'Peritoneal Mesothelioma' 'malignant peritoneal mesothelioma' SubClassOf 'Malignant Mesothelioma' 'malignant peritoneal mesothelioma' SubClassOf 'Peritoneal Mesothelioma' http://www.ebi.ac.uk/efo/EFO_0005565 janus kinase-3 deficiency 'janus kinase-3 deficiency' SubClassOf 'Severe combined immunodeficiency' 'janus kinase-3 deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015974 http://www.orpha.net/ORDO/Orphanet_90119 Axonal Charcot-Marie-Tooth disease with acrodystrophy 'Axonal Charcot-Marie-Tooth disease with acrodystrophy' SubClassOf 'autosomal recessive axonal hereditary motor and sensory neuropathy' 'Axonal Charcot-Marie-Tooth disease with acrodystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015626 'Axonal Charcot-Marie-Tooth disease with acrodystrophy' SubClassOf 'Hereditary motor and sensory neuropathy' http://www.orpha.net/ORDO/Orphanet_90118 Severe early-onset axonal neuropathy due to MFN2 deficiency 'Severe early-onset axonal neuropathy due to MFN2 deficiency' SubClassOf 'autosomal recessive axonal hereditary motor and sensory neuropathy' 'Severe early-onset axonal neuropathy due to MFN2 deficiency' SubClassOf 'Hereditary motor and sensory neuropathy' 'Severe early-onset axonal neuropathy due to MFN2 deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015626 http://www.orpha.net/ORDO/Orphanet_268369 Spina bifida aperta 'Spina bifida aperta' SubClassOf 'Isolated spina bifida' 'Spina bifida aperta' SubClassOf 'spina bifida' 'Spina bifida aperta' SubClassOf 'Isolated spina bifida' http://www.orpha.net/ORDO/Orphanet_268363 Open iniencephaly 'Open iniencephaly' SubClassOf 'Iniencephaly' 'Open iniencephaly' SubClassOf 'Iniencephaly' http://www.orpha.net/ORDO/Orphanet_90120 Hereditary motor and sensory neuropathy type 6 'Hereditary motor and sensory neuropathy type 6' SubClassOf 'axonal hereditary motor and sensory neuropathy' 'Hereditary motor and sensory neuropathy type 6' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015626 http://www.orpha.net/ORDO/Orphanet_268366 Closed iniencephaly 'Closed iniencephaly' SubClassOf 'Iniencephaly' 'Closed iniencephaly' SubClassOf 'Iniencephaly' http://www.ebi.ac.uk/efo/EFO_0005553 eccrine sweat gland cancer 'eccrine sweat gland cancer' SubClassOf 'sweat gland cancer' 'eccrine sweat gland cancer' SubClassOf 'eccrine sweat gland neoplasm' 'eccrine sweat gland cancer' SubClassOf 'sweat gland cancer' 'eccrine sweat gland cancer' SubClassOf 'eccrine sweat gland neoplasm' http://www.ebi.ac.uk/efo/EFO_0005556 Gilbert syndrome 'Gilbert syndrome' SubClassOf 'syndromic disease' 'Gilbert syndrome' SubClassOf 'hereditary hyperbilirubinemia' 'Gilbert syndrome' SubClassOf 'syndromic disease' 'Gilbert syndrome' SubClassOf 'hereditary hyperbilirubinemia' http://www.ebi.ac.uk/efo/EFO_0005555 gamma chain deficiency 'gamma chain deficiency' SubClassOf 'T-B+ severe combined immunodeficiency' 'gamma chain deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044200 http://www.orpha.net/ORDO/Orphanet_293375 Grayson-Wilbrandt corneal dystrophy 'Grayson-Wilbrandt corneal dystrophy' SubClassOf 'Superficial corneal dystrophy' 'Grayson-Wilbrandt corneal dystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_268357 Neural tube closure defect 'Neural tube closure defect' SubClassOf 'Neural tube defect' 'Neural tube closure defect' SubClassOf 'Neural tube defect' http://www.ebi.ac.uk/efo/EFO_0005581 red-green color blindness 'red-green color blindness' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 'red-green color blindness' SubClassOf 'Color-vision disease' http://www.ebi.ac.uk/efo/EFO_0005582 renal pelvis carcinoma 'renal pelvis carcinoma' SubClassOf 'renal carcinoma' 'renal pelvis carcinoma' SubClassOf 'renal carcinoma' http://www.ebi.ac.uk/efo/EFO_0005580 red color blindness 'red color blindness' SubClassOf 'Color-vision disease' 'red color blindness' SubClassOf 'Color-vision disease' 'red color blindness' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 'red color blindness' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001703 http://www.orpha.net/ORDO/Orphanet_364541 Frontootopalatodigital syndrome 'Frontootopalatodigital syndrome' SubClassOf 'Filamin-related bone disorder' 'Frontootopalatodigital syndrome' SubClassOf 'Primary bone dysplasia' 'Frontootopalatodigital syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0005588 small intestine carcinoma 'small intestine carcinoma' SubClassOf 'small intestine cancer' 'small intestine carcinoma' SubClassOf 'small intestine cancer' http://www.orpha.net/ORDO/Orphanet_109007 Arthrogryposis syndrome 'Arthrogryposis syndrome' SubClassOf 'has modifier' some 'rare' 'Arthrogryposis syndrome' SubClassOf 'congenital limb malformation' http://www.orpha.net/ORDO/Orphanet_352563 Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency 'Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency' SubClassOf 'combined oxidative phosphorylation deficiency' http://www.ebi.ac.uk/efo/EFO_0005579 pseudohermaphroditism 'pseudohermaphroditism' SubClassOf 'indeterminate sex and/or pseudohermaphroditism' 'pseudohermaphroditism' SubClassOf 'indeterminate sex and/or pseudohermaphroditism' http://www.ebi.ac.uk/efo/EFO_0005576 pernicious anemia 'pernicious anemia' SubClassOf 'Inborn errors of metabolism' 'pernicious anemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019052 http://www.orpha.net/ORDO/Orphanet_352577 Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency 'Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency' SubClassOf 'congenital nervous system disorder' 'Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency' SubClassOf 'syndromic intellectual disability' 'Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_352587 Focal epilepsy - intellectual disability - cerebro-cerebellar malformation 'Focal epilepsy - intellectual disability - cerebro-cerebellar malformation' SubClassOf 'Monogenic disease with epilepsy' 'Focal epilepsy - intellectual disability - cerebro-cerebellar malformation' SubClassOf 'Monogenic disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_352582 Familial infantile myoclonic epilepsy 'Familial infantile myoclonic epilepsy' SubClassOf 'Monogenic disease with epilepsy' 'Familial infantile myoclonic epilepsy' SubClassOf 'Myoclonic epilepsy of infancy' 'Familial infantile myoclonic epilepsy' SubClassOf 'Early myoclonic encephalopathy' 'Familial infantile myoclonic epilepsy' SubClassOf 'Monogenic disease with epilepsy' 'Familial infantile myoclonic epilepsy' SubClassOf 'Infantile epilepsy syndrome' http://www.ebi.ac.uk/efo/EFO_0005590 steroid inherited metabolic disorder 'steroid inherited metabolic disorder' SubClassOf 'Disorder of lipid metabolism' 'steroid inherited metabolic disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002525 http://www.ebi.ac.uk/efo/EFO_0005596 vitamin metabolic disorder 'vitamin metabolic disorder' SubClassOf 'Inborn errors of metabolism' 'vitamin metabolic disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019052 http://www.orpha.net/ORDO/Orphanet_364574 Acrofacial dysostosis 'Acrofacial dysostosis' SubClassOf 'congenital limb malformation' 'Acrofacial dysostosis' SubClassOf 'Dysostosis of genetic origin' http://www.orpha.net/ORDO/Orphanet_268392 Cervical spina bifida aperta 'Cervical spina bifida aperta' SubClassOf 'Spina bifida aperta' 'Cervical spina bifida aperta' SubClassOf 'Spina bifida aperta' http://www.orpha.net/ORDO/Orphanet_364577 Intellectual disability-brachydactyly-Pierre Robin syndrome 'Intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf 'Genetic syndromic Pierre Robin syndrome' 'Intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf 'congenital nervous system disorder' 'Intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf 'syndromic intellectual disability' 'Intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf 'congenital limb malformation' 'Intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.ebi.ac.uk/efo/EFO_0005595 toxic encephalopathy 'toxic encephalopathy' SubClassOf 'nervous system disease' 'toxic encephalopathy' SubClassOf 'nervous system disease' http://www.orpha.net/ORDO/Orphanet_352596 Progressive myoclonic epilepsy with dystonia 'Progressive myoclonic epilepsy with dystonia' SubClassOf 'Infantile epilepsy syndrome' 'Progressive myoclonic epilepsy with dystonia' SubClassOf 'Infantile epilepsy syndrome' http://www.orpha.net/ORDO/Orphanet_268397 Cervicothoracic spina bifida aperta 'Cervicothoracic spina bifida aperta' SubClassOf 'Spina bifida aperta' 'Cervicothoracic spina bifida aperta' SubClassOf 'Spina bifida aperta' http://www.orpha.net/ORDO/Orphanet_268770 Upper thoracic spina bifida cystica 'Upper thoracic spina bifida cystica' SubClassOf 'Myelomeningocele' 'Upper thoracic spina bifida cystica' SubClassOf 'Myelomeningocele' http://www.orpha.net/ORDO/Orphanet_268766 Cervicothoracic spina bifida cystica 'Cervicothoracic spina bifida cystica' SubClassOf 'Myelomeningocele' 'Cervicothoracic spina bifida cystica' SubClassOf 'Myelomeningocele' http://www.orpha.net/ORDO/Orphanet_268762 Cervical spina bifida cystica 'Cervical spina bifida cystica' SubClassOf 'Myelomeningocele' 'Cervical spina bifida cystica' SubClassOf 'Myelomeningocele' http://www.orpha.net/ORDO/Orphanet_268758 Lumbosacral spina bifida cystica 'Lumbosacral spina bifida cystica' SubClassOf 'Myelomeningocele' 'Lumbosacral spina bifida cystica' SubClassOf 'Myelomeningocele' http://www.orpha.net/ORDO/Orphanet_268752 Thoracolumbosacral spina bifida cystica 'Thoracolumbosacral spina bifida cystica' SubClassOf 'Myelomeningocele' 'Thoracolumbosacral spina bifida cystica' SubClassOf 'Myelomeningocele' http://purl.obolibrary.org/obo/MONDO_0004338 retinal cell cancer 'retinal cell cancer' SubClassOf 'retinal cancer' 'retinal cell cancer' SubClassOf 'retinal cancer' http://www.orpha.net/ORDO/Orphanet_293707 Blepharophimosis-intellectual disability syndrome, MKB type 'Blepharophimosis-intellectual disability syndrome, MKB type' SubClassOf 'MED12-related intellectual disability syndrome' 'Blepharophimosis-intellectual disability syndrome, MKB type' SubClassOf 'Ohdo syndrome and variants' 'Blepharophimosis-intellectual disability syndrome, MKB type' SubClassOf 'Blepharophimosis-intellectual disability syndrome' http://www.orpha.net/ORDO/Orphanet_90390 Anonychia - onychodystrophy 'Anonychia - onychodystrophy' SubClassOf 'Congenital anonychia' 'Anonychia - onychodystrophy' SubClassOf 'Congenital anonychia' http://purl.obolibrary.org/obo/MONDO_0100195 X-linked intellectual disability with hypopituitarism 'X-linked intellectual disability with hypopituitarism' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability with hypopituitarism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 http://purl.obolibrary.org/obo/MONDO_0100196 TPM2-related myopathy 'TPM2-related myopathy' SubClassOf 'Qualitative or quantitative defects of tropomyosin' 'TPM2-related myopathy' SubClassOf 'Congenital myopathy' 'TPM2-related myopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017303 'TPM2-related myopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019952 http://purl.obolibrary.org/obo/MONDO_0004346 signet ring cell intrahepatic cholangiocarcinoma 'signet ring cell intrahepatic cholangiocarcinoma' SubClassOf 'intrahepatic cholangiocarcinoma' 'signet ring cell intrahepatic cholangiocarcinoma' SubClassOf 'intrahepatic cholangiocarcinoma' http://www.orpha.net/ORDO/Orphanet_100932 Nuclear oculomotor paralysis 'Nuclear oculomotor paralysis' SubClassOf 'Oculomotor palsy' 'Nuclear oculomotor paralysis' SubClassOf 'Oculomotor palsy' http://purl.obolibrary.org/obo/MONDO_0004357 carcinoma of supraglottis 'carcinoma of supraglottis' SubClassOf 'laryngeal carcinoma' 'carcinoma of supraglottis' SubClassOf 'laryngeal carcinoma' http://www.orpha.net/ORDO/Orphanet_293725 Blepharophimosis-intellectual disability syndrome, Verloes type 'Blepharophimosis-intellectual disability syndrome, Verloes type' SubClassOf 'Blepharophimosis-intellectual disability syndrome' 'Blepharophimosis-intellectual disability syndrome, Verloes type' SubClassOf 'Blepharophimosis-intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0018993 Charcot-Marie-Tooth disease type 2 'Charcot-Marie-Tooth disease type 2' SubClassOf 'Charcot-Marie-Tooth disease' 'Charcot-Marie-Tooth disease type 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015626 http://www.orpha.net/ORDO/Orphanet_100924 Porphyria due to ALA dehydratase deficiency 'Porphyria due to ALA dehydratase deficiency' SubClassOf 'Acute hepatic porphyria' 'Porphyria due to ALA dehydratase deficiency' SubClassOf 'Acute hepatic porphyria' http://purl.obolibrary.org/obo/MONDO_0100172 intellectual disability, autosomal dominant 'intellectual disability, autosomal dominant' SubClassOf 'Rare genetic neurological disorder' 'intellectual disability, autosomal dominant' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://purl.obolibrary.org/obo/MONDO_0100175 TTN-related myopathy 'TTN-related myopathy' SubClassOf 'Qualitative or quantitative defects of titin' 'TTN-related myopathy' SubClassOf 'Congenital myopathy' 'TTN-related myopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019952 'TTN-related myopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016191 http://purl.obolibrary.org/obo/MONDO_0004379 female breast carcinoma 'female breast carcinoma' SubClassOf 'breast carcinoma' 'female breast carcinoma' SubClassOf 'breast carcinoma' http://purl.obolibrary.org/obo/MONDO_0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia 'GTP cyclohydrolase I deficiency with hyperphenylalaninemia' SubClassOf 'Hyperphenylalaninemia' 'GTP cyclohydrolase I deficiency with hyperphenylalaninemia' SubClassOf 'GTP cyclohydrolase I deficiency' 'GTP cyclohydrolase I deficiency with hyperphenylalaninemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100184 'GTP cyclohydrolase I deficiency with hyperphenylalaninemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016543 http://purl.obolibrary.org/obo/MONDO_0100189 apolipoprotein A-I deficiency 'apolipoprotein A-I deficiency' SubClassOf 'Hypoalphalipoproteinemia' 'apolipoprotein A-I deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017773 'apolipoprotein A-I deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019052 http://www.orpha.net/ORDO/Orphanet_364198 Bipartite talus 'Bipartite talus' SubClassOf 'Dysostosis of genetic origin' 'Bipartite talus' SubClassOf 'Non-syndromic limb malformation' 'Bipartite talus' SubClassOf 'Non-syndromic limb malformation' http://purl.obolibrary.org/obo/MONDO_0100150 RYR1-related myopathy 'RYR1-related myopathy' SubClassOf 'Congenital myopathy' 'RYR1-related myopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019952 'RYR1-related myopathy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0100152 DKC1-related disorder 'DKC1-related disorder' SubClassOf 'Dyskeratosis congenita' 'DKC1-related disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015780 http://purl.obolibrary.org/obo/MONDO_0004386 uterine corpus atypical polypoid adenomyoma 'uterine corpus atypical polypoid adenomyoma' SubClassOf 'atypical polypoid adenomyoma' 'uterine corpus atypical polypoid adenomyoma' SubClassOf 'atypical polypoid adenomyoma' http://purl.obolibrary.org/obo/MONDO_0100157 Imerslund-Grasbeck syndrome type 2 'Imerslund-Grasbeck syndrome type 2' SubClassOf 'Gräsbeck-Imerslund disease' 'Imerslund-Grasbeck syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0009853 http://www.orpha.net/ORDO/Orphanet_391799 Rare genetic dystonia 'Rare genetic dystonia' SubClassOf 'dystonic disorder' 'Rare genetic dystonia' EquivalentTo 'dystonic disorder' and ('has modifier' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0100164 permanent neonatal diabetes mellitus 'permanent neonatal diabetes mellitus' SubClassOf 'Neonatal diabetes mellitus' 'permanent neonatal diabetes mellitus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019052 'permanent neonatal diabetes mellitus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016391 http://purl.obolibrary.org/obo/MONDO_0004392 intracranial extraskeletal myxoid chondrosarcoma 'intracranial extraskeletal myxoid chondrosarcoma' SubClassOf 'extraskeletal myxoid chondrosarcoma' 'intracranial extraskeletal myxoid chondrosarcoma' SubClassOf 'extraskeletal myxoid chondrosarcoma' http://purl.obolibrary.org/obo/MONDO_0100137 telomere syndrome 'telomere syndrome' SubClassOf 'Premature aging' 'telomere syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019303 http://www.orpha.net/ORDO/Orphanet_268744 Spina bifida cystica 'Spina bifida cystica' SubClassOf 'Isolated spina bifida' 'Spina bifida cystica' SubClassOf 'spina bifida' 'Spina bifida cystica' SubClassOf 'Isolated spina bifida' http://www.ebi.ac.uk/efo/EFO_0005909 HGADFN167 'HGADFN167' SubClassOf 'bearer_of' some 'Hutchinson-Gilford progeria syndrome' 'HGADFN167' SubClassOf 'bearer_of' some http://purl.obolibrary.org/obo/MONDO_0008310 http://www.orpha.net/ORDO/Orphanet_268748 Total spina bifida cystica 'Total spina bifida cystica' SubClassOf 'Myelomeningocele' 'Total spina bifida cystica' SubClassOf 'Myelomeningocele' http://www.orpha.net/ORDO/Orphanet_268740 Upper thoracic spina bifida aperta 'Upper thoracic spina bifida aperta' SubClassOf 'Spina bifida aperta' 'Upper thoracic spina bifida aperta' SubClassOf 'Spina bifida aperta' http://purl.obolibrary.org/obo/MONDO_0100146 ATP6AP2-related disorder 'ATP6AP2-related disorder' SubClassOf 'X-linked syndromic intellectual disability' 'ATP6AP2-related disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 http://purl.obolibrary.org/obo/MONDO_0100147 SATB2 associated disorder 'SATB2 associated disorder' SubClassOf 'Rare genetic neurological disorder' 'SATB2 associated disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://purl.obolibrary.org/obo/MONDO_0100148 X-linked complex neurodevelopmental disorder 'X-linked complex neurodevelopmental disorder' SubClassOf 'Rare genetic neurological disorder' 'X-linked complex neurodevelopmental disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.orpha.net/ORDO/Orphanet_329813 Mosaic genome-wide paternal uniparental disomy 'Mosaic genome-wide paternal uniparental disomy' SubClassOf 'Autosomal uniparental disomy' 'Mosaic genome-wide paternal uniparental disomy' SubClassOf 'uniparental disomy' 'Mosaic genome-wide paternal uniparental disomy' SubClassOf 'has modifier' some 'mosaic' 'Mosaic genome-wide paternal uniparental disomy' SubClassOf 'Autosomal uniparental disomy' http://www.orpha.net/ORDO/Orphanet_171208 Intermediate anorectal malformation 'Intermediate anorectal malformation' SubClassOf 'Isolated anorectal malformation' 'Intermediate anorectal malformation' SubClassOf 'Isolated anorectal malformation' http://purl.obolibrary.org/obo/MONDO_0100112 acyl-CoA binding domain containing protein 5 deficiency 'acyl-CoA binding domain containing protein 5 deficiency' SubClassOf 'Peroxisomal beta-oxidation disorder' 'acyl-CoA binding domain containing protein 5 deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019233 http://www.ebi.ac.uk/efo/EFO_0005922 esophageal squamous cell carcinoma 'esophageal squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' 'esophageal squamous cell carcinoma' SubClassOf 'esophageal carcinoma' 'esophageal squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' 'esophageal squamous cell carcinoma' SubClassOf 'esophageal carcinoma' http://www.orpha.net/ORDO/Orphanet_329802 5p13 microduplication syndrome '5p13 microduplication syndrome' SubClassOf 'congenital nervous system disorder' '5p13 microduplication syndrome' SubClassOf 'syndromic intellectual disability' '5p13 microduplication syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '5p13 microduplication syndrome' SubClassOf 'Partial trisomy/tetrasomy of the short arm of chromosome 5' '5p13 microduplication syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '5p13 microduplication syndrome' SubClassOf 'Partial trisomy/tetrasomy of the short arm of chromosome 5' http://www.orpha.net/ORDO/Orphanet_28455 Pancreatic beta cell agenesis with neonatal diabetes mellitus 'Pancreatic beta cell agenesis with neonatal diabetes mellitus' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_171215 Low anorectal malformation 'Low anorectal malformation' SubClassOf 'Isolated anorectal malformation' 'Low anorectal malformation' SubClassOf 'Isolated anorectal malformation' http://purl.obolibrary.org/obo/MONDO_0100121 SCN4A-related myopathy, autosomal recessive 'SCN4A-related myopathy, autosomal recessive' SubClassOf 'disease has major feature' some 'Craniosynostosis' 'SCN4A-related myopathy, autosomal recessive' SubClassOf 'Congenital myopathy' 'SCN4A-related myopathy, autosomal recessive' SubClassOf 'disease has major feature' some http://purl.obolibrary.org/obo/MONDO_0015469 'SCN4A-related myopathy, autosomal recessive' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019952 http://purl.obolibrary.org/obo/MONDO_0100124 NAA10-related syndrome 'NAA10-related syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'NAA10-related syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 http://purl.obolibrary.org/obo/MONDO_0100126 P5CS deficiency 'P5CS deficiency' SubClassOf 'Disorder of ornithine metabolism' 'P5CS deficiency' SubClassOf 'Disorder of proline metabolism' 'P5CS deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017356 'P5CS deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017355 http://www.ebi.ac.uk/efo/EFO_0005917 generalised epilepsy 'generalised epilepsy' SubClassOf 'Rare genetic neurological disorder' 'generalised epilepsy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.orpha.net/ORDO/Orphanet_158266 Huntington disease-like syndrome 'Huntington disease-like syndrome' SubClassOf 'Huntington disease and related disorders' 'Huntington disease-like syndrome' SubClassOf 'Genetic dementia' 'Huntington disease-like syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_171220 Rectal duplication 'Rectal duplication' SubClassOf 'Anorectal malformation' 'Rectal duplication' SubClassOf 'Anorectal malformation' http://purl.obolibrary.org/obo/MONDO_0100210 growth hormone insensitivity syndrome with immune dysregulation 'growth hormone insensitivity syndrome with immune dysregulation' SubClassOf 'Growth hormone insensitivity syndrome' 'growth hormone insensitivity syndrome with immune dysregulation' SubClassOf 'genetic disorder' 'growth hormone insensitivity syndrome with immune dysregulation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015892 http://purl.obolibrary.org/obo/MONDO_0100212 IFAP syndrome 'IFAP syndrome' SubClassOf 'Inherited ichthyosis syndromic form' 'IFAP syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017263 http://purl.obolibrary.org/obo/MONDO_0100214 Rajab interstitial lung disease with brain calcifications 'Rajab interstitial lung disease with brain calcifications' SubClassOf 'Rare genetic neurological disorder' 'Rajab interstitial lung disease with brain calcifications' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://purl.obolibrary.org/obo/MONDO_0100218 arthrogryposis multiplex congenita 5 'arthrogryposis multiplex congenita 5' SubClassOf 'Arthrogryposis multiplex congenita' 'arthrogryposis multiplex congenita 5' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015168 http://purl.obolibrary.org/obo/MONDO_0100225 collagen 6-related myopathy 'collagen 6-related myopathy' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'collagen 6-related myopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016139 http://purl.obolibrary.org/obo/MONDO_0100228 LAMA2-related muscular dystrophy 'LAMA2-related muscular dystrophy' SubClassOf 'Qualitative or quantitative defects of merosin' 'LAMA2-related muscular dystrophy' SubClassOf 'Muscular dystrophy' 'LAMA2-related muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020121 'LAMA2-related muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016149 http://www.ebi.ac.uk/efo/EFO_0005842 colorectal cancer 'colorectal cancer' SubClassOf 'intestinal cancer' 'colorectal cancer' SubClassOf 'colorectal neoplasm' 'colorectal cancer' SubClassOf 'intestinal cancer' 'colorectal cancer' SubClassOf 'colorectal neoplasm' http://www.ebi.ac.uk/efo/EFO_0005840 Pyruvate kinase hyperactivity 'Pyruvate kinase hyperactivity' SubClassOf 'Pyruvate metabolism disorder' 'Pyruvate kinase hyperactivity' SubClassOf 'Pyruvate metabolism disorder' 'Pyruvate kinase hyperactivity' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016789 http://www.orpha.net/ORDO/Orphanet_100986 Autosomal recessive spastic paraplegia type 5A 'Autosomal recessive spastic paraplegia type 5A' SubClassOf 'Pure or complex autosomal recessive spastic paraplegia' 'Autosomal recessive spastic paraplegia type 5A' SubClassOf 'Pure or complex autosomal recessive spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_100985 Autosomal dominant spastic paraplegia type 4 'Autosomal dominant spastic paraplegia type 4' SubClassOf 'Pure or complex autosomal dominant spastic paraplegia' 'Autosomal dominant spastic paraplegia type 4' SubClassOf 'Pure or complex autosomal dominant spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_100988 Autosomal dominant spastic paraplegia type 6 'Autosomal dominant spastic paraplegia type 6' SubClassOf 'Pure or complex autosomal dominant spastic paraplegia' 'Autosomal dominant spastic paraplegia type 6' SubClassOf 'Pure or complex autosomal dominant spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_100982 Autosomal recessive pure spastic paraplegia 'Autosomal recessive pure spastic paraplegia' SubClassOf 'Pure hereditary spastic paraplegia' 'Autosomal recessive pure spastic paraplegia' SubClassOf 'autosomal recessive disease' 'Autosomal recessive pure spastic paraplegia' SubClassOf 'Pure hereditary spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_100981 Autosomal recessive complex spastic paraplegia 'Autosomal recessive complex spastic paraplegia' SubClassOf 'autosomal recessive disease' 'Autosomal recessive complex spastic paraplegia' SubClassOf 'Complex hereditary spastic paraplegia' 'Autosomal recessive complex spastic paraplegia' SubClassOf 'Complex hereditary spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_100984 Autosomal dominant spastic paraplegia type 3 'Autosomal dominant spastic paraplegia type 3' SubClassOf 'Pure or complex autosomal dominant spastic paraplegia' 'Autosomal dominant spastic paraplegia type 3' SubClassOf 'Pure or complex autosomal dominant spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_100980 Autosomal dominant pure spastic paraplegia 'Autosomal dominant pure spastic paraplegia' SubClassOf 'autosomal dominant disease' 'Autosomal dominant pure spastic paraplegia' SubClassOf 'Pure hereditary spastic paraplegia' 'Autosomal dominant pure spastic paraplegia' SubClassOf 'Pure hereditary spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_100979 Autosomal dominant complex spastic paraplegia 'Autosomal dominant complex spastic paraplegia' SubClassOf 'autosomal dominant disease' 'Autosomal dominant complex spastic paraplegia' SubClassOf 'Complex hereditary spastic paraplegia' 'Autosomal dominant complex spastic paraplegia' SubClassOf 'Complex hereditary spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_100978 Cloverleaf skull - asphyxiating thoracic dysplasia 'Cloverleaf skull - asphyxiating thoracic dysplasia' SubClassOf 'Syndromic craniosynostosis' 'Cloverleaf skull - asphyxiating thoracic dysplasia' SubClassOf 'Syndromic craniosynostosis' http://www.orpha.net/ORDO/Orphanet_100997 X-linked spastic paraplegia type 16 'X-linked spastic paraplegia type 16' SubClassOf 'Pure or complex X-linked spastic paraplegia' 'X-linked spastic paraplegia type 16' SubClassOf 'Pure or complex X-linked spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_100996 Autosomal recessive spastic paraplegia type 15 'Autosomal recessive spastic paraplegia type 15' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 15' SubClassOf 'Autosomal recessive complex spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_100999 Autosomal dominant spastic paraplegia type 19 'Autosomal dominant spastic paraplegia type 19' SubClassOf 'Autosomal dominant pure spastic paraplegia' 'Autosomal dominant spastic paraplegia type 19' SubClassOf 'Autosomal dominant pure spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_100998 Autosomal dominant spastic paraplegia type 17 'Autosomal dominant spastic paraplegia type 17' SubClassOf 'Autosomal dominant distal hereditary motor neuropathy' 'Autosomal dominant spastic paraplegia type 17' SubClassOf 'Autosomal dominant complex spastic paraplegia' 'Autosomal dominant spastic paraplegia type 17' SubClassOf 'Autosomal dominant distal hereditary motor neuropathy' 'Autosomal dominant spastic paraplegia type 17' SubClassOf 'Autosomal dominant complex spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_100993 Autosomal dominant spastic paraplegia type 12 'Autosomal dominant spastic paraplegia type 12' SubClassOf 'Autosomal dominant pure spastic paraplegia' 'Autosomal dominant spastic paraplegia type 12' SubClassOf 'Autosomal dominant pure spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_100995 Autosomal recessive spastic paraplegia type 14 'Autosomal recessive spastic paraplegia type 14' SubClassOf 'Pure or complex autosomal recessive spastic paraplegia' 'Autosomal recessive spastic paraplegia type 14' SubClassOf 'Pure or complex autosomal recessive spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_100994 Autosomal dominant spastic paraplegia type 13 'Autosomal dominant spastic paraplegia type 13' SubClassOf 'Pure or complex autosomal dominant spastic paraplegia' 'Autosomal dominant spastic paraplegia type 13' SubClassOf 'Pure or complex autosomal dominant spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_100991 Autosomal dominant spastic paraplegia type 10 'Autosomal dominant spastic paraplegia type 10' SubClassOf 'Pure or complex autosomal dominant spastic paraplegia' 'Autosomal dominant spastic paraplegia type 10' SubClassOf 'Pure or complex autosomal dominant spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_100990 Autosomal dominant spastic paraplegia type 9 'Autosomal dominant spastic paraplegia type 9' SubClassOf 'P5CS deficiency' 'Autosomal dominant spastic paraplegia type 9' SubClassOf 'Autosomal dominant complex spastic paraplegia' 'Autosomal dominant spastic paraplegia type 9' SubClassOf 'Autosomal dominant complex spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_100989 Autosomal dominant spastic paraplegia type 8 'Autosomal dominant spastic paraplegia type 8' SubClassOf 'Autosomal dominant pure spastic paraplegia' 'Autosomal dominant spastic paraplegia type 8' SubClassOf 'Autosomal dominant pure spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_100974 FRAXF syndrome 'FRAXF syndrome' SubClassOf 'syndromic disease' 'FRAXF syndrome' SubClassOf 'genetic disorder' 'FRAXF syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_100976 Bathing suit ichthyosis 'Bathing suit ichthyosis' SubClassOf 'Autosomal recessive congenital ichthyosis' 'Bathing suit ichthyosis' SubClassOf 'Autosomal recessive congenital ichthyosis' http://www.orpha.net/ORDO/Orphanet_100973 FRAXE intellectual disability 'FRAXE intellectual disability' SubClassOf 'X-linked syndromic intellectual disability' 'FRAXE intellectual disability' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/HP_0007210 Lower limb amyotrophy 'Lower limb amyotrophy' SubClassOf 'Abnormality of muscle size' 'Lower limb amyotrophy' SubClassOf http://purl.obolibrary.org/obo/HP_0003202 http://www.orpha.net/ORDO/Orphanet_329903 Immunoglobulin-mediated membranoproliferative glomerulonephritis 'Immunoglobulin-mediated membranoproliferative glomerulonephritis' SubClassOf 'Primary membranoproliferative glomerulonephritis' 'Immunoglobulin-mediated membranoproliferative glomerulonephritis' SubClassOf 'Atypical hemolytic-uremic syndrome' 'Immunoglobulin-mediated membranoproliferative glomerulonephritis' SubClassOf 'familial nephrotic syndrome' 'Immunoglobulin-mediated membranoproliferative glomerulonephritis' SubClassOf 'Primary membranoproliferative glomerulonephritis' http://purl.obolibrary.org/obo/MONDO_0018814 non-SCID combined immunodeficiency 'non-SCID combined immunodeficiency' DisjointWith 'Severe combined immunodeficiency' 'non-SCID combined immunodeficiency' SubClassOf 'Combined T and B cell immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0015974 DisjointWith 'non-SCID combined immunodeficiency' 'non-SCID combined immunodeficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015131 http://www.orpha.net/ORDO/Orphanet_293621 X-linked endothelial corneal dystrophy 'X-linked endothelial corneal dystrophy' SubClassOf 'Posterior corneal dystrophy' 'X-linked endothelial corneal dystrophy' SubClassOf 'corneal endothelial dystrophy' 'X-linked endothelial corneal dystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0018812 MSH3-related attenuated familial adenomatous polyposis 'MSH3-related attenuated familial adenomatous polyposis' SubClassOf 'Attenuated familial adenomatous polyposis' 'MSH3-related attenuated familial adenomatous polyposis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016362 http://www.orpha.net/ORDO/Orphanet_217093 Mucopolysaccharidosis type 2, attenuated form 'Mucopolysaccharidosis type 2, attenuated form' SubClassOf 'Mucopolysaccharidosis type 2' 'Mucopolysaccharidosis type 2, attenuated form' SubClassOf 'Mucopolysaccharidosis type 2' http://purl.obolibrary.org/obo/MONDO_0018829 familial schizencephaly 'familial schizencephaly' SubClassOf 'Encephaloclastic disorder' 'familial schizencephaly' EquivalentTo 'Schizencephaly' and ('has modifier' some 'inherited') 'familial schizencephaly' SubClassOf 'Cerebral malformation with epilepsy' 'familial schizencephaly' SubClassOf 'Schizencephaly' 'familial schizencephaly' SubClassOf 'congenital nervous system disorder' 'familial schizencephaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0010011 'familial schizencephaly' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0010011 and ('has modifier' some 'inherited') http://www.orpha.net/ORDO/Orphanet_293642 Blepharophimosis-intellectual disability syndrome 'Blepharophimosis-intellectual disability syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Blepharophimosis-intellectual disability syndrome' SubClassOf 'congenital nervous system disorder' 'Blepharophimosis-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'Blepharophimosis-intellectual disability syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0018827 familial chilblain lupus 'familial chilblain lupus' EquivalentTo 'Chilblain lupus' and ('has modifier' some 'inherited') 'familial chilblain lupus' SubClassOf 'autoimmune disorder of cardiovascular system' 'familial chilblain lupus' SubClassOf 'skin vascular disease' 'familial chilblain lupus' SubClassOf 'Genetic skin vascular disorder' 'familial chilblain lupus' SubClassOf 'chronic cutaneous lupus erythematosus' 'familial chilblain lupus' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0019557 and ('has modifier' some 'inherited') 'familial chilblain lupus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019557 http://www.orpha.net/ORDO/Orphanet_293633 PYCR1-related De Barsy syndrome 'PYCR1-related De Barsy syndrome' SubClassOf 'Cutis laxa' 'PYCR1-related De Barsy syndrome' SubClassOf 'inherited cutis laxa' 'PYCR1-related De Barsy syndrome' SubClassOf 'De Barsy syndrome' 'PYCR1-related De Barsy syndrome' SubClassOf 'De Barsy syndrome' 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 'Genetic neurodegenerative disease' '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 http://purl.obolibrary.org/obo/MONDO_0024237 'recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015110 http://purl.obolibrary.org/obo/MONDO_0018839 acquired schizencephaly 'acquired schizencephaly' SubClassOf 'Schizencephaly' 'acquired schizencephaly' SubClassOf 'familial schizencephaly' 'acquired schizencephaly' EquivalentTo 'Schizencephaly' and ('has modifier' some 'acquired') 'acquired schizencephaly' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0010011 and ('has modifier' some 'acquired') 'acquired schizencephaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0010011 http://www.orpha.net/ORDO/Orphanet_217085 Mucopolysaccharidosis type 2, severe form 'Mucopolysaccharidosis type 2, severe form' SubClassOf 'Mucopolysaccharidosis type 2' 'Mucopolysaccharidosis type 2, severe form' SubClassOf 'Mucopolysaccharidosis type 2' http://www.orpha.net/ORDO/Orphanet_77298 Anophthalmia/microphthalmia - esophageal atresia 'Anophthalmia/microphthalmia - esophageal atresia' SubClassOf 'Genetic syndromic esophageal malformation' 'Anophthalmia/microphthalmia - esophageal atresia' SubClassOf 'Syndromic microphthalmia' 'Anophthalmia/microphthalmia - esophageal atresia' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Anophthalmia/microphthalmia - esophageal atresia' SubClassOf 'Genetic syndromic esophageal malformation' 'Anophthalmia/microphthalmia - esophageal atresia' SubClassOf 'Syndromic microphthalmia' http://www.orpha.net/ORDO/Orphanet_77299 Microphthalmia - brain atrophy 'Microphthalmia - brain atrophy' SubClassOf 'eye degenerative disorder' 'Microphthalmia - brain atrophy' SubClassOf 'Syndromic microphthalmia' 'Microphthalmia - brain atrophy' SubClassOf 'syndromic intellectual disability' 'Microphthalmia - brain atrophy' SubClassOf 'Genetic neurodegenerative disease' 'Microphthalmia - brain atrophy' SubClassOf 'Syndromic microphthalmia' 'Microphthalmia - brain atrophy' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_77295 Odontoleukodystrophy 'Odontoleukodystrophy' SubClassOf 'Leukodystrophy' http://www.orpha.net/ORDO/Orphanet_77296 Morgagni-Stewart-Morel syndrome 'Morgagni-Stewart-Morel syndrome' SubClassOf 'Genetic cranial malformation' 'Morgagni-Stewart-Morel syndrome' SubClassOf 'cranial malformation' 'Morgagni-Stewart-Morel syndrome' SubClassOf 'has modifier' some 'rare' 'Morgagni-Stewart-Morel syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_77297 Majeed syndrome 'Majeed syndrome' SubClassOf 'Autoinflammatory syndrome with immune deficiency' 'Majeed syndrome' SubClassOf 'Constitutional dyserythropoietic anemia' 'Majeed syndrome' SubClassOf 'hereditary disorder of connective tissue' 'Majeed syndrome' SubClassOf 'pyogenic autoinflammatory syndrome' 'Majeed syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_77292 Niemann-Pick disease type A 'Niemann-Pick disease type A' SubClassOf 'Niemann-Pick disease' 'Niemann-Pick disease type A' SubClassOf 'Metabolic disease with macular cherry-red spot' 'Niemann-Pick disease type A' SubClassOf 'Neurometabolic disease' 'Niemann-Pick disease type A' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_77293 Niemann-Pick disease type B 'Niemann-Pick disease type B' SubClassOf 'Genetic peripheral neuropathy' 'Niemann-Pick disease type B' SubClassOf 'Niemann-Pick disease' 'Niemann-Pick disease type B' SubClassOf 'interstitial lung disease specific to childhood' 'Niemann-Pick disease type B' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' 'Niemann-Pick disease type B' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0100095 neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures 'neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures' SubClassOf 'Genetic neurodegenerative disease' 'neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024237 http://www.orpha.net/ORDO/Orphanet_521438 Congenital vertebral-cardiac-renal anomalies syndrome 'Congenital vertebral-cardiac-renal anomalies syndrome' SubClassOf 'Rare syndrome with cardiac malformations' 'Congenital vertebral-cardiac-renal anomalies syndrome' SubClassOf 'Syndromic genetic deafness' 'Congenital vertebral-cardiac-renal anomalies syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Congenital vertebral-cardiac-renal anomalies syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'Congenital vertebral-cardiac-renal anomalies syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Congenital vertebral-cardiac-renal anomalies syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_90280 Chilblain lupus 'Chilblain lupus' SubClassOf 'skin vascular disease' 'Chilblain lupus' SubClassOf 'chronic cutaneous lupus erythematosus' 'Chilblain lupus' SubClassOf 'hereditary disorder of connective tissue' 'Chilblain lupus' SubClassOf 'type 1 interferonopathy' 'Chilblain lupus' SubClassOf 'autoimmune disorder of cardiovascular system' 'Chilblain lupus' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0100084 alpha-actinopathy 'alpha-actinopathy' SubClassOf 'Congenital myopathy' 'alpha-actinopathy' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'alpha-actinopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019952 'alpha-actinopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016139 http://www.orpha.net/ORDO/Orphanet_293603 Congenital hereditary endothelial dystrophy type II 'Congenital hereditary endothelial dystrophy type II' SubClassOf 'Posterior corneal dystrophy' 'Congenital hereditary endothelial dystrophy type II' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0100058 hypervalinemia and hyperleucine-isoleucinemia 'hypervalinemia and hyperleucine-isoleucinemia' SubClassOf 'Disorder of branched-chain amino acid metabolism' 'hypervalinemia and hyperleucine-isoleucinemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019242 http://purl.obolibrary.org/obo/MONDO_0600001 glutaminase deficiency 'glutaminase deficiency' SubClassOf 'Neurometabolic disease' 'glutaminase deficiency' SubClassOf 'Disorder of glutamine metabolism' 'glutaminase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017352 'glutaminase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019058 http://purl.obolibrary.org/obo/MONDO_0100061 PRPS1 deficiency disorder 'PRPS1 deficiency disorder' SubClassOf 'disease has feature' some 'Non-syndromic genetic deafness' 'PRPS1 deficiency disorder' SubClassOf 'Genetic peripheral neuropathy' 'PRPS1 deficiency disorder' SubClassOf 'disease has feature' some 'Lethal ataxia with deafness and optic atrophy' 'PRPS1 deficiency disorder' SubClassOf 'disease has feature' some 'Charcot-Marie-Tooth disease' 'PRPS1 deficiency disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020127 'PRPS1 deficiency disorder' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/MONDO_0010533 'PRPS1 deficiency disorder' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/MONDO_0015626 'PRPS1 deficiency disorder' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/MONDO_0019497 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy 'developmental and epileptic encephalopathy' SubClassOf 'Disorder of lipid metabolism' 'developmental and epileptic encephalopathy' SubClassOf 'disorder of GPI anchor biosynthesis' 'developmental and epileptic encephalopathy' SubClassOf 'Congenital disorder of glycosylation' 'developmental and epileptic encephalopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002525 'developmental and epileptic encephalopathy' SubClassOf 'disorder of GPI anchor biosynthesis' 'developmental and epileptic encephalopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015286 http://purl.obolibrary.org/obo/MONDO_0004259 endocervical carcinoma 'endocervical carcinoma' SubClassOf 'cervical carcinoma' 'endocervical carcinoma' SubClassOf 'cervical carcinoma' http://purl.obolibrary.org/obo/MONDO_0100064 tyrosine hydroxylase deficiency 'tyrosine hydroxylase deficiency' SubClassOf 'Disorder of neurotransmitter metabolism and transport' 'tyrosine hydroxylase deficiency' SubClassOf 'Neurometabolic disease' 'tyrosine hydroxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019219 'tyrosine hydroxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019058 http://purl.obolibrary.org/obo/MONDO_0100069 hearing impairment and infertile male syndrome 'hearing impairment and infertile male syndrome' SubClassOf 'Syndromic genetic deafness' 'hearing impairment and infertile male syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019589 http://www.orpha.net/ORDO/Orphanet_329971 Generalized juvenile polyposis/juvenile polyposis coli 'Generalized juvenile polyposis/juvenile polyposis coli' SubClassOf 'autosomal dominant disease' 'Generalized juvenile polyposis/juvenile polyposis coli' SubClassOf 'Juvenile polyposis syndrome' 'Generalized juvenile polyposis/juvenile polyposis coli' SubClassOf 'Juvenile polyposis syndrome' http://purl.obolibrary.org/obo/MONDO_0018896 thrombotic thrombocytopenic purpura 'thrombotic thrombocytopenic purpura' SubClassOf 'inherited thrombocytopenia' 'thrombotic thrombocytopenic purpura' SubClassOf 'inherited bleeding disorder, platelet-type' 'thrombotic thrombocytopenic purpura' SubClassOf 'thrombocytopenic purpura' 'thrombotic thrombocytopenic purpura' SubClassOf 'congenital hematological disorder' 'thrombotic thrombocytopenic purpura' SubClassOf 'thrombocytopenic purpura' http://www.orpha.net/ORDO/Orphanet_315311 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form' SubClassOf 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form' SubClassOf 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' http://purl.obolibrary.org/obo/MONDO_0100030 adolescent/adult-onset epilepsy syndrome 'adolescent/adult-onset epilepsy syndrome' SubClassOf 'Epilepsy syndrome' 'adolescent/adult-onset epilepsy syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015650 http://purl.obolibrary.org/obo/MONDO_0100039 CDKL5 disorder 'CDKL5 disorder' SubClassOf 'Motor stereotypies' 'CDKL5 disorder' SubClassOf 'X-linked syndromic intellectual disability' 'CDKL5 disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 'CDKL5 disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017656 http://www.orpha.net/ORDO/Orphanet_329967 Intermittent hydrarthrosis 'Intermittent hydrarthrosis' SubClassOf 'has modifier' some 'rare' 'Intermittent hydrarthrosis' SubClassOf 'hereditary disorder of connective tissue' 'Intermittent hydrarthrosis' SubClassOf 'rheumatic disease' http://www.orpha.net/ORDO/Orphanet_217012 Spinocerebellar ataxia type 31 'Spinocerebellar ataxia type 31' SubClassOf 'Autosomal dominant cerebellar ataxia type 3' 'Spinocerebellar ataxia type 31' SubClassOf 'Autosomal dominant cerebellar ataxia type 3' http://www.orpha.net/ORDO/Orphanet_217017 Zechi-Ceide syndrome 'Zechi-Ceide syndrome' SubClassOf 'syndromic intellectual disability' 'Zechi-Ceide syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Zechi-Ceide syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Zechi-Ceide syndrome' SubClassOf 'congenital nervous system disorder' 'Zechi-Ceide syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0028226 autosomal recessive severe congenital neutropenia 'autosomal recessive severe congenital neutropenia' SubClassOf 'Severe congenital neutropenia' 'autosomal recessive severe congenital neutropenia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018542 http://purl.obolibrary.org/obo/MONDO_0100040 FOXG1 disorder 'FOXG1 disorder' SubClassOf 'Monogenic disease with epilepsy' 'FOXG1 disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 'FOXG1 disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015653 http://purl.obolibrary.org/obo/MONDO_0016255 uterine corpus mixed epithelial and mesenchymal neoplasm 'uterine corpus mixed epithelial and mesenchymal neoplasm' SubClassOf 'corpus uteri neoplasm' 'uterine corpus mixed epithelial and mesenchymal neoplasm' SubClassOf 'mixed neoplasm' 'uterine corpus mixed epithelial and mesenchymal neoplasm' SubClassOf 'corpus uteri neoplasm' 'uterine corpus mixed epithelial and mesenchymal neoplasm' SubClassOf 'mixed neoplasm' http://www.orpha.net/ORDO/Orphanet_401815 Autosomal recessive spastic paraplegia type 66 'Autosomal recessive spastic paraplegia type 66' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 66' SubClassOf 'Autosomal recessive complex spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_401810 Autosomal recessive spastic paraplegia type 64 'Autosomal recessive spastic paraplegia type 64' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 64' SubClassOf 'Autosomal recessive complex spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0100016 early-onset generalized dystonia 'early-onset generalized dystonia' SubClassOf 'Generalized isolated dystonia' 'early-onset generalized dystonia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018303 http://www.orpha.net/ORDO/Orphanet_329942 Transient neonatal multiple acyl-CoA dehydrogenase deficiency 'Transient neonatal multiple acyl-CoA dehydrogenase deficiency' SubClassOf 'Acyl-CoA dehydrogenase deficiency' 'Transient neonatal multiple acyl-CoA dehydrogenase deficiency' SubClassOf 'Acyl-CoA dehydrogenase deficiency' http://purl.obolibrary.org/obo/MONDO_0016260 uterine corpus rhabdomyosarcoma 'uterine corpus rhabdomyosarcoma' SubClassOf 'uterine sarcoma' 'uterine corpus rhabdomyosarcoma' SubClassOf 'uterine sarcoma' http://www.orpha.net/ORDO/Orphanet_401805 Autosomal recessive spastic paraplegia type 63 'Autosomal recessive spastic paraplegia type 63' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 63' SubClassOf 'Autosomal recessive complex spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_401800 Autosomal recessive spastic paraplegia type 60 'Autosomal recessive spastic paraplegia type 60' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 60' SubClassOf 'Autosomal recessive complex spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0100022 neonatal/infantile epilepsy syndrome 'neonatal/infantile epilepsy syndrome' SubClassOf 'Epilepsy syndrome' 'neonatal/infantile epilepsy syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015650 http://www.orpha.net/ORDO/Orphanet_315306 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form' SubClassOf 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form' SubClassOf 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' http://www.orpha.net/ORDO/Orphanet_217026 Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type 'Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type' SubClassOf 'heart disease' 'Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_158124 Genetic dementia 'Genetic dementia' SubClassOf 'dementia' 'Genetic dementia' SubClassOf 'Rare genetic neurological disorder' 'Genetic dementia' EquivalentTo 'dementia' and ('has modifier' some 'inherited') 'Genetic dementia' SubClassOf 'central nervous system disease' 'Genetic dementia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 'Genetic dementia' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_217023 Atypical hemolytic-uremic syndrome with thrombomodulin anomaly 'Atypical hemolytic-uremic syndrome with thrombomodulin anomaly' SubClassOf 'hemolytic-uremic syndrome' http://www.orpha.net/ORDO/Orphanet_329931 C3 glomerulonephritis 'C3 glomerulonephritis' SubClassOf 'Non-immunoglobulin-mediated membranoproliferative glomerulonephritis' 'C3 glomerulonephritis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_217055 Autosomal recessive intermediate Charcot-Marie-Tooth disease type A 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type A' SubClassOf 'Autosomal recessive intermediate Charcot-Marie-Tooth disease' 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type A' SubClassOf 'Autosomal recessive intermediate Charcot-Marie-Tooth disease' http://www.ebi.ac.uk/efo/EFO_0005800 substance withdrawal syndrome 'substance withdrawal syndrome' SubClassOf 'syndromic disease' 'substance withdrawal syndrome' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_217052 Early-onset non-syndromic cataract 'Early-onset non-syndromic cataract' SubClassOf 'cataract' 'Early-onset non-syndromic cataract' SubClassOf 'Non-syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_217059 Isolated congenital digital clubbing 'Isolated congenital digital clubbing' SubClassOf 'Isolated nail anomaly' 'Isolated congenital digital clubbing' SubClassOf 'Joint formation defects' 'Isolated congenital digital clubbing' SubClassOf 'Isolated nail anomaly' 'Isolated congenital digital clubbing' SubClassOf 'Joint formation defects' http://purl.obolibrary.org/obo/MONDO_0043878 hereditary optic atrophy 'hereditary optic atrophy' SubClassOf 'Genetic neurodegenerative disease' 'hereditary optic atrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024237 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 http://purl.obolibrary.org/obo/MONDO_0020119 http://www.orpha.net/ORDO/Orphanet_217046 Autosomal recessive childhood-onset cortical cataract 'Autosomal recessive childhood-onset cortical cataract' SubClassOf 'Early-onset non-syndromic cataract' 'Autosomal recessive childhood-onset cortical cataract' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_329918 Non-immunoglobulin-mediated membranoproliferative glomerulonephritis 'Non-immunoglobulin-mediated membranoproliferative glomerulonephritis' SubClassOf 'Primary membranoproliferative glomerulonephritis' 'Non-immunoglobulin-mediated membranoproliferative glomerulonephritis' SubClassOf 'Primary membranoproliferative glomerulonephritis' http://purl.obolibrary.org/obo/MONDO_0100100 SELENON-related myopathy 'SELENON-related myopathy' SubClassOf 'Congenital myopathy' 'SELENON-related myopathy' SubClassOf 'genetic disorder' 'SELENON-related myopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019952 http://purl.obolibrary.org/obo/MONDO_0100108 TPM3-related myopathy 'TPM3-related myopathy' SubClassOf 'Congenital myopathy' 'TPM3-related myopathy' SubClassOf 'Qualitative or quantitative defects of tropomyosin' 'TPM3-related myopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019952 'TPM3-related myopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017303 http://www.orpha.net/ORDO/Orphanet_171201 High anorectal malformation 'High anorectal malformation' SubClassOf 'Isolated anorectal malformation' 'High anorectal malformation' SubClassOf 'Isolated anorectal malformation' http://www.orpha.net/ORDO/Orphanet_28378 Tyrosinemia type 2 'Tyrosinemia type 2' SubClassOf 'tyrosinemia' 'Tyrosinemia type 2' SubClassOf 'Focal palmoplantar keratoderma' 'Tyrosinemia type 2' SubClassOf 'Syndromic ichthyosis associated with ocular features' 'Tyrosinemia type 2' SubClassOf 'Disorder of tyrosine metabolism' 'Tyrosinemia type 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017263 http://www.ebi.ac.uk/efo/EFO_0005717 retinoblastoma (nonhereditary) 'retinoblastoma (nonhereditary)' SubClassOf 'Retinoblastoma' 'retinoblastoma (nonhereditary)' SubClassOf http://purl.obolibrary.org/obo/MONDO_0008380 http://www.orpha.net/ORDO/Orphanet_401777 Optic atrophy-intellectual disability syndrome 'Optic atrophy-intellectual disability syndrome' SubClassOf 'syndromic hereditary optic neuropathy' 'Optic atrophy-intellectual disability syndrome' SubClassOf 'Genetic optic atrophy' 'Optic atrophy-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'Optic atrophy-intellectual disability syndrome' SubClassOf 'hereditary optic atrophy' http://www.orpha.net/ORDO/Orphanet_53351 X-linked dystonia-parkinsonism 'X-linked dystonia-parkinsonism' SubClassOf 'focal dystonia' 'X-linked dystonia-parkinsonism' SubClassOf 'parkinsonian disorder' 'X-linked dystonia-parkinsonism' SubClassOf 'Persistent combined dystonia' 'X-linked dystonia-parkinsonism' SubClassOf 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' 'X-linked dystonia-parkinsonism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_401768 Proximal myopathy with extrapyramidal signs 'Proximal myopathy with extrapyramidal signs' SubClassOf 'disease arises from feature' some 'neurodegenerative disease' 'Proximal myopathy with extrapyramidal signs' SubClassOf 'Non-dystrophic myopathy' 'Proximal myopathy with extrapyramidal signs' SubClassOf 'Non-dystrophic myopathy' http://www.orpha.net/ORDO/Orphanet_401764 Pancytopenia-developmental delay syndrome 'Pancytopenia-developmental delay syndrome' SubClassOf 'inherited aplastic anemia' 'Pancytopenia-developmental delay syndrome' SubClassOf 'bone marrow failure syndrome' http://www.ebi.ac.uk/efo/EFO_0003100 peripheral neuropathy 'peripheral neuropathy' SubClassOf 'peripheral nervous system disease' 'peripheral neuropathy' SubClassOf 'peripheral nervous system disease' http://www.ebi.ac.uk/efo/EFO_0003105 spina bifida 'spina bifida' SubClassOf 'Neural tube closure defect' 'spina bifida' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017059 'spina bifida' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.ebi.ac.uk/efo/EFO_0003108 essential tremor 'essential tremor' SubClassOf 'Rare genetic neurological disorder' 'essential tremor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.orpha.net/ORDO/Orphanet_77300 Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities 'Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities' SubClassOf 'Orofacial clefting syndrome' 'Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities' SubClassOf 'Orofacial clefting syndrome' 'Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_77301 Monosomy 9q22.3 'Monosomy 9q22.3' SubClassOf 'Partial monosomy of the long arm of chromosome 9' 'Monosomy 9q22.3' SubClassOf 'Partial monosomy of the long arm of chromosome 9' http://www.orpha.net/ORDO/Orphanet_53347 Brody myopathy 'Brody myopathy' SubClassOf 'Non-dystrophic myopathy' 'Brody myopathy' SubClassOf 'Qualitative or quantitative defects of protein SERCA1' 'Brody myopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0005784 embryonal neoplasm 'embryonal neoplasm' SubClassOf 'neoplasm' 'embryonal neoplasm' SubClassOf 'neoplasm' http://www.orpha.net/ORDO/Orphanet_90339 Rosselli-Gulienetti syndrome 'Rosselli-Gulienetti syndrome' SubClassOf 'Cleft lip/palate - ectodermal dysplasia' 'Rosselli-Gulienetti syndrome' SubClassOf 'Ankyloblepharon - ectodermal defects - cleft lip/palate' 'Rosselli-Gulienetti syndrome' SubClassOf 'Orofacial clefting syndrome' 'Rosselli-Gulienetti syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_90340 Blau syndrome 'Blau syndrome' SubClassOf 'type II hypersensitivity reaction disease' 'Blau syndrome' SubClassOf 'Autoinflammatory syndrome with immune deficiency' 'Blau syndrome' SubClassOf 'hereditary disorder of connective tissue' 'Blau syndrome' SubClassOf 'Sarcoidosis' 'Blau syndrome' SubClassOf 'Genetic dermis disorder' 'Blau syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_90348 Autosomal dominant cutis laxa 'Autosomal dominant cutis laxa' SubClassOf 'inherited cutis laxa' 'Autosomal dominant cutis laxa' SubClassOf 'autosomal dominant disease' http://www.orpha.net/ORDO/Orphanet_90342 Xeroderma pigmentosum variant 'Xeroderma pigmentosum variant' SubClassOf 'Xeroderma pigmentosum' 'Xeroderma pigmentosum variant' SubClassOf 'Xeroderma pigmentosum' http://www.ebi.ac.uk/efo/EFO_0005773 retinal detachment 'retinal detachment' SubClassOf 'Rare genetic neurological disorder' 'retinal detachment' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.orpha.net/ORDO/Orphanet_90349 Autosomal recessive cutis laxa type 1 'Autosomal recessive cutis laxa type 1' SubClassOf 'autosomal recessive disease' 'Autosomal recessive cutis laxa type 1' SubClassOf 'inherited cutis laxa' 'Autosomal recessive cutis laxa type 1' SubClassOf 'vascular disease' http://purl.obolibrary.org/obo/HP_0007126 Proximal amyotrophy 'Proximal amyotrophy' SubClassOf 'Abnormality of muscle size' 'Proximal amyotrophy' SubClassOf http://purl.obolibrary.org/obo/HP_0003202 http://www.orpha.net/ORDO/Orphanet_90350 Autosomal recessive cutis laxa type 2 'Autosomal recessive cutis laxa type 2' SubClassOf 'Developmental anomaly of metabolic origin' 'Autosomal recessive cutis laxa type 2' SubClassOf 'Disorder of proline metabolism' 'Autosomal recessive cutis laxa type 2' SubClassOf 'Primary bone dysplasia' 'Autosomal recessive cutis laxa type 2' SubClassOf 'autosomal recessive disease' 'Autosomal recessive cutis laxa type 2' SubClassOf 'inherited cutis laxa' 'Autosomal recessive cutis laxa type 2' SubClassOf 'Disorder of proline metabolism' http://www.orpha.net/ORDO/Orphanet_90354 Brittle cornea syndrome 'Brittle cornea syndrome' SubClassOf 'autosomal recessive disease' 'Brittle cornea syndrome' SubClassOf 'corneal disease' 'Brittle cornea syndrome' SubClassOf 'has modifier' some 'rare' 'Brittle cornea syndrome' SubClassOf 'Ehlers-Danlos syndrome' 'Brittle cornea syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020066 'Brittle cornea syndrome' SubClassOf 'corneal disease' http://www.orpha.net/ORDO/Orphanet_401795 Autosomal recessive spastic paraplegia type 59 'Autosomal recessive spastic paraplegia type 59' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 59' SubClassOf 'Autosomal recessive complex spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_352301 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis' SubClassOf 'Disorder of lipid metabolism' 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis' SubClassOf 'Disorder of lipid metabolism' http://www.orpha.net/ORDO/Orphanet_53372 Hereditary geniospasm 'Hereditary geniospasm' SubClassOf 'movement disorder' 'Hereditary geniospasm' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_90362 Primary intestinal lymphangiectasia 'Primary intestinal lymphangiectasia' SubClassOf 'intestinal lymphangiectasia' http://www.orpha.net/ORDO/Orphanet_90368 Hypotrichosis simplex of the scalp 'Hypotrichosis simplex of the scalp' SubClassOf 'Alopecia' 'Hypotrichosis simplex of the scalp' SubClassOf 'genetic alopecia' 'Hypotrichosis simplex of the scalp' SubClassOf 'Alopecia' http://www.ebi.ac.uk/efo/EFO_0005799 neonatal abstinence syndrome 'neonatal abstinence syndrome' SubClassOf 'substance withdrawal syndrome' 'neonatal abstinence syndrome' SubClassOf 'substance withdrawal syndrome' http://www.orpha.net/ORDO/Orphanet_401785 Autosomal recessive spastic paraplegia type 62 'Autosomal recessive spastic paraplegia type 62' SubClassOf 'Autosomal recessive pure spastic paraplegia' 'Autosomal recessive spastic paraplegia type 62' SubClassOf 'Autosomal recessive pure spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_401780 Autosomal recessive spastic paraplegia type 61 'Autosomal recessive spastic paraplegia type 61' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 61' SubClassOf 'Autosomal recessive complex spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_90301 Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement 'Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement' SubClassOf 'epidermal disease' 'Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement' SubClassOf 'familial acanthosis nigricans' 'Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement' SubClassOf 'diabetes mellitus' 'Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement' SubClassOf 'acanthosis nigricans' http://www.orpha.net/ORDO/Orphanet_90309 Ehlers-Danlos syndrome type 1 'Ehlers-Danlos syndrome type 1' SubClassOf 'Ehlers-Danlos syndrome, classic type' 'Ehlers-Danlos syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0007522 http://www.orpha.net/ORDO/Orphanet_352328 MEGDEL syndrome 'MEGDEL syndrome' SubClassOf 'Neurometabolic disease' 'MEGDEL syndrome' SubClassOf '3-methylglutaconic aciduria' 'MEGDEL syndrome' SubClassOf 'Syndromic genetic deafness' 'MEGDEL syndrome' SubClassOf 'Rare syndromic dyslipidemia' 'MEGDEL syndrome' SubClassOf 'Cerebral organic aciduria' 'MEGDEL syndrome' SubClassOf 'Neurometabolic disease' 'MEGDEL syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017359 'MEGDEL syndrome' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_90307 Parkes Weber syndrome 'Parkes Weber syndrome' SubClassOf 'Angioosteohypertrophic syndrome' 'Parkes Weber syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_352333 Congenital ichthyosis - intellectual disability - spastic quadriplegia 'Congenital ichthyosis - intellectual disability - spastic quadriplegia' SubClassOf 'congenital nervous system disorder' 'Congenital ichthyosis - intellectual disability - spastic quadriplegia' SubClassOf 'Rare syndromic dyslipidemia' 'Congenital ichthyosis - intellectual disability - spastic quadriplegia' SubClassOf 'Neurometabolic disease' 'Congenital ichthyosis - intellectual disability - spastic quadriplegia' SubClassOf 'Neurometabolic disease' http://www.orpha.net/ORDO/Orphanet_90318 Ehlers-Danlos syndrome type 2 'Ehlers-Danlos syndrome type 2' SubClassOf 'Ehlers-Danlos syndrome, classic type' 'Ehlers-Danlos syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0007522 http://www.orpha.net/ORDO/Orphanet_90324 Cockayne syndrome type 3 'Cockayne syndrome type 3' SubClassOf 'Cockayne syndrome' 'Cockayne syndrome type 3' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_90322 Cockayne syndrome type 2 'Cockayne syndrome type 2' SubClassOf 'Cockayne syndrome' 'Cockayne syndrome type 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_90321 Cockayne syndrome type 1 'Cockayne syndrome type 1' SubClassOf 'Cockayne syndrome' 'Cockayne syndrome type 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_165658 Genetic gastro-esophageal disease 'Genetic gastro-esophageal disease' SubClassOf 'gastroesophageal disease' 'Genetic gastro-esophageal disease' EquivalentTo 'gastroesophageal disease' and ('disease has feature' some 'inherited') 'Genetic gastro-esophageal disease' SubClassOf 'disease has feature' some 'inherited' http://www.ebi.ac.uk/efo/EFO_0009644 neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 'neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy' SubClassOf 'Rare genetic neurological disorder' 'neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.ebi.ac.uk/efo/EFO_0009645 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 'neurodevelopmental disorder with or without anomalies of the brain, eye, or heart' SubClassOf 'Rare genetic neurological disorder' 'neurodevelopmental disorder with or without anomalies of the brain, eye, or heart' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.ebi.ac.uk/efo/EFO_0009646 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 'macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015163 'macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss' SubClassOf 'syndromic disease' 'macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss' SubClassOf 'syndromic constitutional thrombocytopenia' 'macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss' SubClassOf 'inherited bleeding disorder, platelet-type' http://www.ebi.ac.uk/efo/EFO_0009664 disease of orbital region 'disease of orbital region' SubClassOf 'head and neck disorder' http://www.orpha.net/ORDO/Orphanet_3088 Revesz syndrome 'Revesz syndrome' SubClassOf 'Retinal dystrophy' 'Revesz syndrome' SubClassOf 'Dyskeratosis congenita' 'Revesz syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_38874 Dihydropyrimidinuria 'Dihydropyrimidinuria' SubClassOf 'Disorder of pyrimidine metabolism' 'Dihydropyrimidinuria' SubClassOf 'Disorder of pyrimidine metabolism' http://www.orpha.net/ORDO/Orphanet_3087 Retinohepatoendocrinologic syndrome 'Retinohepatoendocrinologic syndrome' SubClassOf 'polyendocrinopathy' http://www.orpha.net/ORDO/Orphanet_3086 Autosomal dominant vitreoretinochoroidopathy 'Autosomal dominant vitreoretinochoroidopathy' SubClassOf 'Vitreoretinal degeneration' 'Autosomal dominant vitreoretinochoroidopathy' SubClassOf 'Vitreoretinal degeneration' http://www.orpha.net/ORDO/Orphanet_3085 Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism 'Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism' SubClassOf 'Syndromic retinitis pigmentosa' 'Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism' SubClassOf 'Syndromic genetic deafness' 'Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism' SubClassOf 'Syndromic retinitis pigmentosa' 'Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_3082 Intellectual disability - polydactyly - uncombable hair 'Intellectual disability - polydactyly - uncombable hair' SubClassOf 'syndromic intellectual disability' 'Intellectual disability - polydactyly - uncombable hair' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Intellectual disability - polydactyly - uncombable hair' SubClassOf 'congenital nervous system disorder' 'Intellectual disability - polydactyly - uncombable hair' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_3080 Intellectual disability, Wolff type 'Intellectual disability, Wolff type' SubClassOf 'syndromic intellectual disability' 'Intellectual disability, Wolff type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Intellectual disability, Wolff type' SubClassOf 'congenital nervous system disorder' 'Intellectual disability, Wolff type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_3098 Rhizomelic syndrome, Urbach type 'Rhizomelic syndrome, Urbach type' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' 'Rhizomelic syndrome, Urbach type' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' http://www.orpha.net/ORDO/Orphanet_3097 Meacham syndrome 'Meacham syndrome' SubClassOf 'has modifier' some 'rare' 'Meacham syndrome' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' 'Meacham syndrome' SubClassOf 'syndromic uterovaginal malformation' 'Meacham syndrome' SubClassOf 'Syndrome with 46,XY disorder of sex development' 'Meacham syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3095 Atypical Rett syndrome 'Atypical Rett syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Atypical Rett syndrome' SubClassOf 'disease shares features of' some 'Rett syndrome' 'Atypical Rett syndrome' SubClassOf 'X-linked complex neurodevelopmental disorder' 'Atypical Rett syndrome' SubClassOf 'Motor stereotypies' 'Atypical Rett syndrome' SubClassOf 'pervasive developmental disorder' 'Atypical Rett syndrome' SubClassOf 'Motor stereotypies' 'Atypical Rett syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 http://www.orpha.net/ORDO/Orphanet_320391 Autosomal recessive spastic paraplegia type 46 'Autosomal recessive spastic paraplegia type 46' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 46' SubClassOf 'Autosomal recessive complex spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_320396 Autosomal recessive spastic paraplegia type 45 'Autosomal recessive spastic paraplegia type 45' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 45' SubClassOf 'Autosomal recessive complex spastic paraplegia' http://www.ebi.ac.uk/efo/EFO_0009691 vestibular disease 'vestibular disease' SubClassOf 'inner ear disease' 'vestibular disease' SubClassOf 'inner ear disease' http://www.ebi.ac.uk/efo/EFO_0009671 hereditary ataxia 'hereditary ataxia' SubClassOf 'Genetic neurodegenerative disease' 'hereditary ataxia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024237 http://www.orpha.net/ORDO/Orphanet_320380 Autosomal recessive spastic paraplegia type 54 'Autosomal recessive spastic paraplegia type 54' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 54' SubClassOf 'Autosomal recessive complex spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_320385 Autosomal recessive spastic paraplegia type 49 'Autosomal recessive spastic paraplegia type 49' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 49' SubClassOf 'Autosomal recessive complex spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_3047 Blepharophimosis-intellectual disability syndrome, SBBYS type 'Blepharophimosis-intellectual disability syndrome, SBBYS type' SubClassOf 'Syndromic hypothyroidism' 'Blepharophimosis-intellectual disability syndrome, SBBYS type' SubClassOf 'Ohdo syndrome and variants' 'Blepharophimosis-intellectual disability syndrome, SBBYS type' SubClassOf 'Syndromic hypothyroidism' 'Blepharophimosis-intellectual disability syndrome, SBBYS type' SubClassOf 'Blepharophimosis-intellectual disability syndrome' http://www.orpha.net/ORDO/Orphanet_102009 Classic lissencephaly 'Classic lissencephaly' SubClassOf 'Lissencephaly' 'Classic lissencephaly' SubClassOf 'Lissencephaly' http://www.orpha.net/ORDO/Orphanet_3044 Intellectual disability - dysmorphism - hypogonadism - diabetes mellitus 'Intellectual disability - dysmorphism - hypogonadism - diabetes mellitus' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Intellectual disability - dysmorphism - hypogonadism - diabetes mellitus' SubClassOf 'syndromic intellectual disability' 'Intellectual disability - dysmorphism - hypogonadism - diabetes mellitus' SubClassOf 'congenital nervous system disorder' 'Intellectual disability - dysmorphism - hypogonadism - diabetes mellitus' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_3042 Intellectual disability - cataracts - calcified pinnae - myopathy 'Intellectual disability - cataracts - calcified pinnae - myopathy' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_3041 Intellectual disability - balding - patella luxation - acromicria 'Intellectual disability - balding - patella luxation - acromicria' SubClassOf 'Acromelic dysplasia' 'Intellectual disability - balding - patella luxation - acromicria' SubClassOf 'syndromic intellectual disability' 'Intellectual disability - balding - patella luxation - acromicria' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Intellectual disability - balding - patella luxation - acromicria' SubClassOf 'congenital nervous system disorder' 'Intellectual disability - balding - patella luxation - acromicria' SubClassOf 'Acromelic dysplasia' 'Intellectual disability - balding - patella luxation - acromicria' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_75857 6q terminal deletion syndrome '6q terminal deletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 6' '6q terminal deletion syndrome' SubClassOf 'Syndromic anorectal malformation' '6q terminal deletion syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_75858 MORM syndrome 'MORM syndrome' SubClassOf 'Retinal dystrophy' 'MORM syndrome' SubClassOf 'Syndromic obesity' 'MORM syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99832 Resistance to thyrotropin-releasing hormone syndrome 'Resistance to thyrotropin-releasing hormone syndrome' SubClassOf 'Central congenital hypothyroidism' 'Resistance to thyrotropin-releasing hormone syndrome' SubClassOf 'Central congenital hypothyroidism' http://www.orpha.net/ORDO/Orphanet_3057 Monoamine oxidase A deficiency 'Monoamine oxidase A deficiency' SubClassOf 'Disorder of neurotransmitter metabolism and transport' 'Monoamine oxidase A deficiency' SubClassOf 'Cerebral organic aciduria' 'Monoamine oxidase A deficiency' SubClassOf 'Neurometabolic disease' 'Monoamine oxidase A deficiency' SubClassOf 'inherited amino acid metabolic disorder' 'Monoamine oxidase A deficiency' SubClassOf 'X-linked recessive disease' 'Monoamine oxidase A deficiency' SubClassOf 'Disorder of neurotransmitter metabolism and transport' 'Monoamine oxidase A deficiency' SubClassOf 'Neurometabolic disease' http://www.orpha.net/ORDO/Orphanet_3056 X-linked intellectual disability, Brooks type 'X-linked intellectual disability, Brooks type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Brooks type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3055 X-linked intellectual disability - short stature - obesity 'X-linked intellectual disability - short stature - obesity' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability - short stature - obesity' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_102015 Autosomal recessive limb-girdle muscular dystrophy 'Autosomal recessive limb-girdle muscular dystrophy' SubClassOf 'autosomal recessive disease' 'Autosomal recessive limb-girdle muscular dystrophy' SubClassOf 'Limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy' SubClassOf 'Limb-girdle muscular dystrophy' http://www.orpha.net/ORDO/Orphanet_3052 X-linked intellectual disability - seizures - psoriasis 'X-linked intellectual disability - seizures - psoriasis' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability - seizures - psoriasis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 http://www.orpha.net/ORDO/Orphanet_3051 intellectual disability - sparse hair - brachydactyly 'intellectual disability - sparse hair - brachydactyly' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'intellectual disability - sparse hair - brachydactyly' SubClassOf 'congenital nervous system disorder' 'intellectual disability - sparse hair - brachydactyly' SubClassOf 'BAFopathy' 'intellectual disability - sparse hair - brachydactyly' SubClassOf 'syndromic intellectual disability' 'intellectual disability - sparse hair - brachydactyly' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_102013 Complex hereditary spastic paraplegia 'Complex hereditary spastic paraplegia' SubClassOf 'Hereditary spastic paraplegia' 'Complex hereditary spastic paraplegia' EquivalentTo 'Hereditary spastic paraplegia' and ('has modifier' some 'has a syndromic presentation') 'Complex hereditary spastic paraplegia' SubClassOf 'syndromic disease' 'Complex hereditary spastic paraplegia' SubClassOf 'Hereditary spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_102014 Autosomal dominant limb-girdle muscular dystrophy 'Autosomal dominant limb-girdle muscular dystrophy' SubClassOf 'autosomal dominant disease' 'Autosomal dominant limb-girdle muscular dystrophy' SubClassOf 'Limb-girdle muscular dystrophy' 'Autosomal dominant limb-girdle muscular dystrophy' SubClassOf 'Limb-girdle muscular dystrophy' http://www.orpha.net/ORDO/Orphanet_102011 Lissencephaly type 3 'Lissencephaly type 3' SubClassOf 'Lissencephaly' 'Lissencephaly type 3' SubClassOf 'Lissencephaly' http://www.orpha.net/ORDO/Orphanet_102012 Pure hereditary spastic paraplegia 'Pure hereditary spastic paraplegia' SubClassOf 'Hereditary spastic paraplegia' 'Pure hereditary spastic paraplegia' SubClassOf 'Hereditary spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_3059 X-linked intellectual disability, Gu type 'X-linked intellectual disability, Gu type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Gu type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 http://www.orpha.net/ORDO/Orphanet_99842 Leukocyte adhesion deficiency type I 'Leukocyte adhesion deficiency type I' SubClassOf 'Leukocyte adhesion deficiency' 'Leukocyte adhesion deficiency type I' SubClassOf 'Leukocyte adhesion deficiency' http://www.orpha.net/ORDO/Orphanet_99844 Leukocyte adhesion deficiency type III 'Leukocyte adhesion deficiency type III' SubClassOf 'Leukocyte adhesion deficiency' 'Leukocyte adhesion deficiency type III' SubClassOf 'Autosomal recessive malignant osteopetrosis' 'Leukocyte adhesion deficiency type III' SubClassOf 'Leukocyte adhesion deficiency' 'Leukocyte adhesion deficiency type III' SubClassOf 'Osteopetrosis' http://www.orpha.net/ORDO/Orphanet_99843 Leukocyte adhesion deficiency type II 'Leukocyte adhesion deficiency type II' SubClassOf 'Leukocyte adhesion deficiency' 'Leukocyte adhesion deficiency type II' SubClassOf 'Disorder of multiple glycosylation' 'Leukocyte adhesion deficiency type II' SubClassOf 'congenital nervous system disorder' 'Leukocyte adhesion deficiency type II' SubClassOf 'congenital disorder of glycosylation type II' 'Leukocyte adhesion deficiency type II' SubClassOf 'Leukocyte adhesion deficiency' 'Leukocyte adhesion deficiency type II' SubClassOf 'Disorder of multiple glycosylation' http://www.orpha.net/ORDO/Orphanet_3050 Intellectual disability - hypotonia - skin hyperpigmentation 'Intellectual disability - hypotonia - skin hyperpigmentation' SubClassOf 'syndromic intellectual disability' 'Intellectual disability - hypotonia - skin hyperpigmentation' SubClassOf 'has modifier' some 'rare' http://www.ebi.ac.uk/efo/EFO_0010689 perineum disease 'perineum disease' SubClassOf 'abdominal and pelvic region disorder' 'perineum disease' EquivalentTo 'has_disease_location' some ('perineum' or ('part_of' some 'perineum')) 'perineum disease' SubClassOf 'disease' http://www.orpha.net/ORDO/Orphanet_3068 Intellectual disability - myopathy - short stature - endocrine defect 'Intellectual disability - myopathy - short stature - endocrine defect' SubClassOf 'has modifier' some 'rare' 'Intellectual disability - myopathy - short stature - endocrine defect' SubClassOf 'Congenital myopathy' 'Intellectual disability - myopathy - short stature - endocrine defect' SubClassOf 'congenital nervous system disorder' 'Intellectual disability - myopathy - short stature - endocrine defect' SubClassOf 'syndromic intellectual disability' 'Intellectual disability - myopathy - short stature - endocrine defect' SubClassOf 'Congenital myopathy' http://www.orpha.net/ORDO/Orphanet_3067 Intellectual disability - microcephaly - phalangeal - facial abnormalities 'Intellectual disability - microcephaly - phalangeal - facial abnormalities' SubClassOf 'has modifier' some 'rare' 'Intellectual disability - microcephaly - phalangeal - facial abnormalities' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_3064 X-linked intellectual disability, Wittner type 'X-linked intellectual disability, Wittner type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Wittner type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 http://www.orpha.net/ORDO/Orphanet_3063 X-linked intellectual disability, Snyder type 'X-linked intellectual disability, Snyder type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Snyder type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 http://www.orpha.net/ORDO/Orphanet_3062 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 http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99846 Autosomal dominant myoglobinuria 'Autosomal dominant myoglobinuria' SubClassOf 'autosomal dominant disease' 'Autosomal dominant myoglobinuria' SubClassOf 'Muscular lipidosis' 'Autosomal dominant myoglobinuria' SubClassOf 'myoglobinuria' 'Autosomal dominant myoglobinuria' SubClassOf 'Inborn errors of metabolism' 'Autosomal dominant myoglobinuria' SubClassOf 'Muscular lipidosis' http://www.orpha.net/ORDO/Orphanet_99845 Genetic recurrent myoglobinuria 'Genetic recurrent myoglobinuria' SubClassOf 'Inborn errors of metabolism' http://www.ebi.ac.uk/efo/EFO_0020038 megacystis-microcolon-intestinal hypoperistalsis syndrome 5 'megacystis-microcolon-intestinal hypoperistalsis syndrome 5' SubClassOf 'Megacystis-microcolon-intestinal hypoperistalsis syndrome' 'megacystis-microcolon-intestinal hypoperistalsis syndrome 5' SubClassOf http://purl.obolibrary.org/obo/MONDO_0025986 http://www.orpha.net/ORDO/Orphanet_99849 Glycogen storage disease due to muscle beta-enolase deficiency 'Glycogen storage disease due to muscle beta-enolase deficiency' SubClassOf 'Glycogen storage disease' 'Glycogen storage disease due to muscle beta-enolase deficiency' SubClassOf 'Muscular glycogenosis' 'Glycogen storage disease due to muscle beta-enolase deficiency' SubClassOf 'Glycogen storage disease' 'Glycogen storage disease due to muscle beta-enolase deficiency' SubClassOf 'Muscular glycogenosis' http://www.orpha.net/ORDO/Orphanet_99853 Ovarioleukodystrophy 'Ovarioleukodystrophy' SubClassOf 'CACH syndrome' 'Ovarioleukodystrophy' SubClassOf 'CACH syndrome' http://www.orpha.net/ORDO/Orphanet_99852 RAVINE syndrome 'RAVINE syndrome' SubClassOf 'Leukodystrophy' 'RAVINE syndrome' SubClassOf 'Leukodystrophy' http://www.orpha.net/ORDO/Orphanet_75840 Congenital muscular dystrophy, Ullrich type 'Congenital muscular dystrophy, Ullrich type' SubClassOf 'Congenital muscular dystrophy' 'Congenital muscular dystrophy, Ullrich type' SubClassOf 'Congenital muscular dystrophy' http://www.orpha.net/ORDO/Orphanet_99854 Cree leukoencephalopathy 'Cree leukoencephalopathy' SubClassOf 'CACH syndrome' 'Cree leukoencephalopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3061 X-linked intellectual disability, Raynaud type 'X-linked intellectual disability, Raynaud type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Raynaud type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 http://www.orpha.net/ORDO/Orphanet_3079 Intellectual disability, Buenos-Aires type 'Intellectual disability, Buenos-Aires type' SubClassOf 'syndromic intellectual disability' 'Intellectual disability, Buenos-Aires type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Intellectual disability, Buenos-Aires type' SubClassOf 'congenital nervous system disorder' 'Intellectual disability, Buenos-Aires type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_3078 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 'syndromic hereditary optic neuropathy' 'Severe X-linked intellectual disability, Gustavson type' SubClassOf 'X-linked recessive optic atrophy' 'Severe X-linked intellectual disability, Gustavson type' SubClassOf 'syndromic hereditary optic neuropathy' 'Severe X-linked intellectual disability, Gustavson type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 http://www.orpha.net/ORDO/Orphanet_3077 X-linked intellectual disability - psychosis - macroorchidism 'X-linked intellectual disability - psychosis - macroorchidism' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability - psychosis - macroorchidism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 http://www.orpha.net/ORDO/Orphanet_3074 Intellectual disability - short stature - hypertelorism 'Intellectual disability - short stature - hypertelorism' SubClassOf 'syndromic intellectual disability' 'Intellectual disability - short stature - hypertelorism' SubClassOf 'congenital nervous system disorder' 'Intellectual disability - short stature - hypertelorism' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Intellectual disability - short stature - hypertelorism' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_99856 Primary syringomyelia 'Primary syringomyelia' SubClassOf 'syringomyelia' 'Primary syringomyelia' SubClassOf 'Rare genetic medullar disease' http://www.orpha.net/ORDO/Orphanet_99858 Idiopathic syringomyelia 'Idiopathic syringomyelia' SubClassOf 'Primary syringomyelia' 'Idiopathic syringomyelia' SubClassOf 'idiopathic disease' 'Idiopathic syringomyelia' SubClassOf 'Familial syringomyelia' 'Idiopathic syringomyelia' SubClassOf 'has modifier' some 'rare' 'Idiopathic syringomyelia' EquivalentTo 'Primary syringomyelia' and ('has modifier' some 'idiopathic') 'Idiopathic syringomyelia' SubClassOf 'Primary syringomyelia' http://www.orpha.net/ORDO/Orphanet_3071 Costello syndrome 'Costello syndrome' SubClassOf 'intellectual disability, autosomal dominant' 'Costello syndrome' SubClassOf 'Noonan syndrome and Noonan-related syndrome' 'Costello syndrome' SubClassOf 'syndromic intellectual disability' 'Costello syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Costello syndrome' SubClassOf 'Genetic dermis elastic tissue disorder' 'Costello syndrome' SubClassOf 'congenital nervous system disorder' 'Costello syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Costello syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Costello syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Costello syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3003 Pyknoachondrogenesis 'Pyknoachondrogenesis' SubClassOf 'Lethal chondrodysplasia' 'Pyknoachondrogenesis' SubClassOf 'Lethal chondrodysplasia' http://www.orpha.net/ORDO/Orphanet_87884 Non-syndromic genetic deafness 'Non-syndromic genetic deafness' EquivalentTo 'hearing loss' and ('has modifier' some 'has an isolated presentation') and ('has modifier' some 'inherited') 'Non-syndromic genetic deafness' SubClassOf 'hearing loss' 'Non-syndromic genetic deafness' SubClassOf 'has modifier' some 'has an isolated presentation' http://www.orpha.net/ORDO/Orphanet_3008 Pyruvate carboxylase deficiency 'Pyruvate carboxylase deficiency' SubClassOf 'Gluconeogenesis disorder' 'Pyruvate carboxylase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3006 Pyridoxine-dependent epilepsy 'Pyridoxine-dependent epilepsy' SubClassOf 'metabolic epilepsy' 'Pyridoxine-dependent epilepsy' SubClassOf 'Neurometabolic disease' 'Pyridoxine-dependent epilepsy' SubClassOf 'Disorder of pyridoxine metabolism' 'Pyridoxine-dependent epilepsy' SubClassOf 'Neurometabolic disease' 'Pyridoxine-dependent epilepsy' SubClassOf 'Disorder of pyridoxine metabolism' http://www.orpha.net/ORDO/Orphanet_3005 Pyle disease 'Pyle disease' SubClassOf 'Primary bone dysplasia' 'Pyle disease' SubClassOf 'Primary bone dysplasia with increased bone density' 'Pyle disease' SubClassOf 'osteochondrodysplasia' 'Pyle disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3004 Mirror polydactyly - vertebral segmentation - limbs defects 'Mirror polydactyly - vertebral segmentation - limbs defects' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_73245 Spinal muscular atrophy - Dandy-Walker malformation - cataracts 'Spinal muscular atrophy - Dandy-Walker malformation - cataracts' SubClassOf 'Bulbospinal muscular atrophy' 'Spinal muscular atrophy - Dandy-Walker malformation - cataracts' SubClassOf 'central nervous system malformation' 'Spinal muscular atrophy - Dandy-Walker malformation - cataracts' SubClassOf 'disease has major feature' some 'central nervous system malformation' http://www.orpha.net/ORDO/Orphanet_73246 Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay 'Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay' SubClassOf 'syndromic intellectual disability' 'Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay' SubClassOf 'congenital nervous system disorder' 'Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_3011 Spastic tetraplegia - retinitis pigmentosa - intellectual disability 'Spastic tetraplegia - retinitis pigmentosa - intellectual disability' SubClassOf 'syndromic intellectual disability' 'Spastic tetraplegia - retinitis pigmentosa - intellectual disability' SubClassOf 'Syndromic retinitis pigmentosa' 'Spastic tetraplegia - retinitis pigmentosa - intellectual disability' SubClassOf 'Syndromic retinitis pigmentosa' http://www.orpha.net/ORDO/Orphanet_3010 Qazi-Markouizos syndrome 'Qazi-Markouizos syndrome' SubClassOf 'syndromic intellectual disability' 'Qazi-Markouizos syndrome' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_85212 Fetal Gaucher disease 'Fetal Gaucher disease' SubClassOf 'perinatal disease' 'Fetal Gaucher disease' SubClassOf 'Rare syndromic dyslipidemia' 'Fetal Gaucher disease' SubClassOf 'Autosomal ichthyosis syndrome with fatal disease course' 'Fetal Gaucher disease' SubClassOf 'Gaucher disease' 'Fetal Gaucher disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_87876 sialidosis type II 'sialidosis type II' SubClassOf 'disease has feature' some 'nephrosis' 'sialidosis type II' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'sialidosis type II' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'sialidosis type II' SubClassOf 'sialidosis' 'sialidosis type II' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'sialidosis type II' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'sialidosis type II' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017734 'sialidosis type II' SubClassOf 'Developmental anomaly of metabolic origin' http://www.orpha.net/ORDO/Orphanet_3019 Ramon syndrome 'Ramon syndrome' SubClassOf 'genetic disorder' 'Ramon syndrome' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Ramon syndrome' SubClassOf 'musculoskeletal system disease' 'Ramon syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Ramon syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3016 Radius absent - anogenital anomalies 'Radius absent - anogenital anomalies' SubClassOf 'Dysostosis of genetic origin' 'Radius absent - anogenital anomalies' SubClassOf 'congenital limb malformation' http://www.orpha.net/ORDO/Orphanet_73229 Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures 'Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures' SubClassOf 'COL4A1 or COL4A2-related cerebral small vessel disease' 'Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures' SubClassOf 'Basement membrane disease' 'Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures' SubClassOf 'Basement membrane disease' 'Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures' SubClassOf 'Genetic central nervous system and retinal vascular disease' http://www.orpha.net/ORDO/Orphanet_3015 Radio-renal syndrome 'Radio-renal syndrome' SubClassOf 'Dysostosis of genetic origin' 'Radio-renal syndrome' SubClassOf 'congenital limb malformation' http://www.orpha.net/ORDO/Orphanet_73230 Ossification anomalies - psychomotor development delay 'Ossification anomalies - psychomotor development delay' SubClassOf 'thoracic malformation' 'Ossification anomalies - psychomotor development delay' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_3021 RAPADILINO syndrome 'RAPADILINO syndrome' SubClassOf 'autosomal recessive disease' 'RAPADILINO syndrome' SubClassOf 'congenital limb malformation' 'RAPADILINO syndrome' SubClassOf 'Dysostosis of genetic origin' 'RAPADILINO syndrome' SubClassOf 'Orofacial clefting syndrome' 'RAPADILINO syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'RAPADILINO syndrome' SubClassOf 'Orofacial clefting syndrome' 'RAPADILINO syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_85201 Genitopatellar syndrome 'Genitopatellar syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Genitopatellar syndrome' SubClassOf 'Patellar dysostosis' 'Genitopatellar syndrome' SubClassOf 'syndromic intellectual disability' 'Genitopatellar syndrome' SubClassOf 'congenital nervous system disorder' 'Genitopatellar syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Genitopatellar syndrome' SubClassOf 'Patellar dysostosis' http://www.orpha.net/ORDO/Orphanet_3020 Ramsay-Hunt syndrome 'Ramsay-Hunt syndrome' SubClassOf 'Varicella Zoster infection' 'Ramsay-Hunt syndrome' SubClassOf 'Bell's palsy' 'Ramsay-Hunt syndrome' SubClassOf 'viral infection of central nervous system' http://www.orpha.net/ORDO/Orphanet_85200 Ischio-vertebral syndrome 'Ischio-vertebral syndrome' SubClassOf 'Dysostosis of genetic origin' http://www.orpha.net/ORDO/Orphanet_85203 Acro-pectoral syndrome 'Acro-pectoral syndrome' SubClassOf 'congenital limb malformation' http://www.orpha.net/ORDO/Orphanet_85202 Keutel syndrome 'Keutel syndrome' SubClassOf 'congenital nervous system disorder' 'Keutel syndrome' SubClassOf 'syndromic intellectual disability' 'Keutel syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Keutel syndrome' SubClassOf 'congenital limb malformation' 'Keutel syndrome' SubClassOf 'Syndrome with brachydactyly' 'Keutel syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Keutel syndrome' SubClassOf 'Chondrodysplasia punctata' 'Keutel syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99802 Hemimegalencephaly 'Hemimegalencephaly' SubClassOf 'overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes' 'Hemimegalencephaly' SubClassOf 'cerebral malformation' http://www.orpha.net/ORDO/Orphanet_73217 Müllerian aplasia 'Müllerian aplasia' SubClassOf 'uterovaginal malformation' 'Müllerian aplasia' SubClassOf 'has modifier' some 'rare' 'Müllerian aplasia' SubClassOf 'Rare genetic gynecological and obstetrical diseases' 'Müllerian aplasia' SubClassOf 'female reproductive system disease' http://www.orpha.net/ORDO/Orphanet_99803 Haddad syndrome 'Haddad syndrome' SubClassOf 'intestinal motility disease' 'Haddad syndrome' SubClassOf 'Syndromic intestinal malformation' 'Haddad syndrome' SubClassOf 'Ondine syndrome' 'Haddad syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_102020 Autosomal monosomy 'Autosomal monosomy' SubClassOf 'Autosomal anomaly' 'Autosomal monosomy' SubClassOf 'Autosomal anomaly' http://www.orpha.net/ORDO/Orphanet_99806 Oculootodental syndrome 'Oculootodental syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 11' 'Oculootodental syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 11' http://www.orpha.net/ORDO/Orphanet_3027 Caudal regression sequence 'Caudal regression sequence' SubClassOf 'Neural tube defect' 'Caudal regression sequence' SubClassOf 'non-syndromic urogenital tract malformation' 'Caudal regression sequence' SubClassOf 'Isolated anorectal malformation' 'Caudal regression sequence' SubClassOf 'Syndromic renal or urinary tract malformation' 'Caudal regression sequence' SubClassOf 'Syndromic renal or urinary tract malformation' http://www.orpha.net/ORDO/Orphanet_99807 PEHO-like syndrome 'PEHO-like syndrome' SubClassOf 'Milroy disease' 'PEHO-like syndrome' SubClassOf 'Rare genetic neurological disorder' 'PEHO-like syndrome' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_73220 X-linked intellectual disability - hypotonic face 'X-linked intellectual disability - hypotonic face' SubClassOf 'ATR-X-related syndrome' 'X-linked intellectual disability - hypotonic face' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016980 http://www.orpha.net/ORDO/Orphanet_73223 Global developmental delay - osteopenia - ectodermal defect 'Global developmental delay - osteopenia - ectodermal defect' SubClassOf 'has modifier' some 'rare' 'Global developmental delay - osteopenia - ectodermal defect' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_73224 Tubular renal disease - cardiomyopathy 'Tubular renal disease - cardiomyopathy' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_99810 Familial porencephaly 'Familial porencephaly' SubClassOf 'Porencephaly' 'Familial porencephaly' SubClassOf 'Cerebral malformation with epilepsy' 'Familial porencephaly' EquivalentTo 'Porencephaly' and ('has modifier' some 'inherited') 'Familial porencephaly' SubClassOf 'COL4A1 or COL4A2-related cerebral small vessel disease' 'Familial porencephaly' SubClassOf 'Encephaloclastic disorder' 'Familial porencephaly' SubClassOf 'Porencephaly' http://www.orpha.net/ORDO/Orphanet_3035 Growth delay - hydrocephaly - lung hypoplasia 'Growth delay - hydrocephaly - lung hypoplasia' SubClassOf 'Genetic respiratory malformation' 'Growth delay - hydrocephaly - lung hypoplasia' SubClassOf 'syndromic respiratory or mediastinal malformation' 'Growth delay - hydrocephaly - lung hypoplasia' SubClassOf 'Genetic respiratory malformation' http://www.orpha.net/ORDO/Orphanet_3034 Delayed membranous cranial ossification 'Delayed membranous cranial ossification' SubClassOf 'cranial malformation' 'Delayed membranous cranial ossification' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_3032 NPHP3-related Meckel-like syndrome 'NPHP3-related Meckel-like syndrome' SubClassOf 'Meckel syndrome' 'NPHP3-related Meckel-like syndrome' SubClassOf 'central nervous system malformation' 'NPHP3-related Meckel-like syndrome' SubClassOf 'Genetic syndrome with a Dandy-Walker malformation as major feature' 'NPHP3-related Meckel-like syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'NPHP3-related Meckel-like syndrome' SubClassOf 'congenital nervous system disorder' 'NPHP3-related Meckel-like syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99812 LIG4 syndrome 'LIG4 syndrome' SubClassOf 'T-B- severe combined immunodeficiency' 'LIG4 syndrome' SubClassOf 'syndromic disease' 'LIG4 syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'LIG4 syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'LIG4 syndrome' SubClassOf 'Combined T and B cell immunodeficiency' http://www.orpha.net/ORDO/Orphanet_99817 Non-polyposis Turcot syndrome 'Non-polyposis Turcot syndrome' SubClassOf 'Lynch syndrome' 'Non-polyposis Turcot syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0005835 'Non-polyposis Turcot syndrome' SubClassOf 'Rare genetic tumor' http://www.orpha.net/ORDO/Orphanet_3038 Delayed speech - facial asymmetry - strabismus - ear lobe creases 'Delayed speech - facial asymmetry - strabismus - ear lobe creases' SubClassOf 'syndromic intellectual disability' 'Delayed speech - facial asymmetry - strabismus - ear lobe creases' SubClassOf 'congenital nervous system disorder' 'Delayed speech - facial asymmetry - strabismus - ear lobe creases' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Delayed speech - facial asymmetry - strabismus - ear lobe creases' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_99819 Familial gestational hyperthyroidism 'Familial gestational hyperthyroidism' SubClassOf 'Genetic hypertension' 'Familial gestational hyperthyroidism' SubClassOf 'Hyperthyroidism' 'Familial gestational hyperthyroidism' SubClassOf 'hypertension, pregnancy-induced' 'Familial gestational hyperthyroidism' SubClassOf 'Genetic hypertension' http://www.orpha.net/ORDO/Orphanet_99818 Turcot syndrome with polyposis 'Turcot syndrome with polyposis' SubClassOf 'inherited nervous system cancer-predisposing syndrome' 'Turcot syndrome with polyposis' SubClassOf 'Familial adenomatous polyposis' 'Turcot syndrome with polyposis' SubClassOf 'Rare genetic neurological disorder' 'Turcot syndrome with polyposis' SubClassOf 'nervous system neoplasm' 'Turcot syndrome with polyposis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_320406 Spastic paraplegia-optic atrophy-neuropathy syndrome 'Spastic paraplegia-optic atrophy-neuropathy syndrome' SubClassOf 'spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder' 'Spastic paraplegia-optic atrophy-neuropathy syndrome' SubClassOf 'Autosomal recessive syndromic optic atrophy' 'Spastic paraplegia-optic atrophy-neuropathy syndrome' SubClassOf 'Hereditary motor and sensory neuropathy' 'Spastic paraplegia-optic atrophy-neuropathy syndrome' SubClassOf 'syndromic hereditary optic neuropathy' http://www.orpha.net/ORDO/Orphanet_97249 Pontocerebellar hypoplasia type 3 'Pontocerebellar hypoplasia type 3' SubClassOf 'Non-syndromic pontocerebellar hypoplasia' 'Pontocerebellar hypoplasia type 3' SubClassOf 'Non-syndromic pontocerebellar hypoplasia' http://www.orpha.net/ORDO/Orphanet_320411 Autosomal recessive spastic paraplegia type 56 'Autosomal recessive spastic paraplegia type 56' SubClassOf 'Pure or complex autosomal recessive spastic paraplegia' 'Autosomal recessive spastic paraplegia type 56' SubClassOf 'Pure or complex autosomal recessive spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_261476 Monosomy Xp21 'Monosomy Xp21' SubClassOf 'Partial monosomy of the short arm of chromosome X' 'Monosomy Xp21' SubClassOf 'Glycerol kinase deficiency' 'Monosomy Xp21' SubClassOf 'Developmental anomaly of metabolic origin' 'Monosomy Xp21' SubClassOf 'Partial monosomy of the short arm of chromosome X' 'Monosomy Xp21' SubClassOf 'Glycerol kinase deficiency' http://purl.obolibrary.org/obo/MONDO_0000611 pre-malignant neoplasm 'pre-malignant neoplasm' SubClassOf 'neoplasm' 'pre-malignant neoplasm' SubClassOf 'neoplasm' http://www.orpha.net/ORDO/Orphanet_73272 Growth delay due to insulin-like growth factor type 1 deficiency 'Growth delay due to insulin-like growth factor type 1 deficiency' SubClassOf 'Growth hormone insensitivity syndrome' 'Growth delay due to insulin-like growth factor type 1 deficiency' SubClassOf 'Growth hormone insensitivity syndrome' http://www.orpha.net/ORDO/Orphanet_73273 Growth delay due to insulin-like growth factor I resistance 'Growth delay due to insulin-like growth factor I resistance' SubClassOf 'Growth hormone insensitivity syndrome' 'Growth delay due to insulin-like growth factor I resistance' SubClassOf 'Growth hormone insensitivity syndrome' http://www.orpha.net/ORDO/Orphanet_320401 Autosomal recessive spastic paraplegia type 44 'Autosomal recessive spastic paraplegia type 44' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 44' SubClassOf 'Autosomal recessive complex spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_73271 Bleeding diathesis due to a collagen receptor defect 'Bleeding diathesis due to a collagen receptor defect' SubClassOf 'inherited bleeding disorder, platelet-type' 'Bleeding diathesis due to a collagen receptor defect' SubClassOf 'Rare genetic coagulation disorder' http://www.orpha.net/ORDO/Orphanet_3102 Richieri Costa-Pereira syndrome 'Richieri Costa-Pereira syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Richieri Costa-Pereira syndrome' SubClassOf 'Orofacial clefting syndrome' 'Richieri Costa-Pereira syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3101 Richieri Costa-da Silva syndrome 'Richieri Costa-da Silva syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Richieri Costa-da Silva syndrome' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Richieri Costa-da Silva syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0000621 immune system cancer 'immune system cancer' SubClassOf 'cancer' 'immune system cancer' SubClassOf 'cancer' http://www.orpha.net/ORDO/Orphanet_3109 Mayer-Rokitansky-Küster-Hauser syndrome 'Mayer-Rokitansky-Küster-Hauser syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Mayer-Rokitansky-Küster-Hauser syndrome' SubClassOf 'Partial bilateral aplasia of the Müllerian ducts' 'Mayer-Rokitansky-Küster-Hauser syndrome' SubClassOf 'syndromic uterovaginal malformation' 'Mayer-Rokitansky-Küster-Hauser syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'Mayer-Rokitansky-Küster-Hauser syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Mayer-Rokitansky-Küster-Hauser syndrome' SubClassOf 'Partial bilateral aplasia of the Müllerian ducts' http://www.orpha.net/ORDO/Orphanet_3107 Autosomal dominant Robinow syndrome 'Autosomal dominant Robinow syndrome' SubClassOf 'Robinow syndrome' 'Autosomal dominant Robinow syndrome' SubClassOf 'intellectual disability, autosomal dominant' 'Autosomal dominant Robinow syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019978 http://www.orpha.net/ORDO/Orphanet_3105 Robinow-like syndrome 'Robinow-like syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Robinow-like syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' 'Robinow-like syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3104 Robin sequence - oligodactyly 'Robin sequence - oligodactyly' SubClassOf 'Orofacial clefting syndrome' 'Robin sequence - oligodactyly' SubClassOf 'Orofacial clefting syndrome' http://www.orpha.net/ORDO/Orphanet_3103 Roberts syndrome 'Roberts syndrome' SubClassOf 'Musculoskeletal disease with cataract' 'Roberts syndrome' SubClassOf 'Roberts-SC phocomelia syndrome' 'Roberts syndrome' SubClassOf 'Orofacial clefting syndrome' 'Roberts syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' 'Roberts syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0000625 benign male reproductive system neoplasm 'benign male reproductive system neoplasm' SubClassOf 'benign reproductive system neoplasm' 'benign male reproductive system neoplasm' SubClassOf 'benign reproductive system neoplasm' http://purl.obolibrary.org/obo/MONDO_0000624 benign female reproductive system neoplasm 'benign female reproductive system neoplasm' SubClassOf 'female reproductive system neoplasm' 'benign female reproductive system neoplasm' SubClassOf 'benign reproductive system neoplasm' 'benign female reproductive system neoplasm' SubClassOf 'female reproductive system neoplasm' 'benign female reproductive system neoplasm' SubClassOf 'benign reproductive system neoplasm' http://purl.obolibrary.org/obo/MONDO_0000629 cardiovascular organ benign neoplasm 'cardiovascular organ benign neoplasm' SubClassOf 'benign neoplasm' 'cardiovascular organ benign neoplasm' SubClassOf 'benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0000628 central nervous system organ benign neoplasm 'central nervous system organ benign neoplasm' SubClassOf 'nervous system benign neoplasm' 'central nervous system organ benign neoplasm' SubClassOf 'nervous system benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0000627 benign endocrine neoplasm 'benign endocrine neoplasm' SubClassOf 'endocrine neoplasm' 'benign endocrine neoplasm' SubClassOf 'benign neoplasm' 'benign endocrine neoplasm' SubClassOf 'benign neoplasm' 'benign endocrine neoplasm' SubClassOf 'endocrine neoplasm' http://www.orpha.net/ORDO/Orphanet_3111 Rotor syndrome 'Rotor syndrome' SubClassOf 'hereditary hyperbilirubinemia' 'Rotor syndrome' SubClassOf 'has modifier' some 'rare' 'Rotor syndrome' SubClassOf 'Rare metabolic liver disease' 'Rotor syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3110 Rombo syndrome 'Rombo syndrome' SubClassOf 'Genetic skin tumor' 'Rombo syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3115 Roussy-Lévy syndrome 'Roussy-Lévy syndrome' SubClassOf 'Autosomal dominant hereditary demyelinating motor and sensory neuropathy' 'Roussy-Lévy syndrome' SubClassOf 'Autosomal dominant hereditary demyelinating motor and sensory neuropathy' http://www.orpha.net/ORDO/Orphanet_97286 Carney-Stratakis syndrome 'Carney-Stratakis syndrome' SubClassOf 'Multiple polyglandular tumor' 'Carney-Stratakis syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' 'Carney-Stratakis syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy 'polyhydramnios, megalencephaly, and symptomatic epilepsy' SubClassOf 'Monogenic disease with epilepsy' 'polyhydramnios, megalencephaly, and symptomatic epilepsy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015653 'polyhydramnios, megalencephaly, and symptomatic epilepsy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://purl.obolibrary.org/obo/MONDO_0000637 musculoskeletal system cancer 'musculoskeletal system cancer' SubClassOf 'cancer' 'musculoskeletal system cancer' SubClassOf 'cancer' http://purl.obolibrary.org/obo/MONDO_0000636 musculoskeletal system benign neoplasm 'musculoskeletal system benign neoplasm' SubClassOf 'benign neoplasm' 'musculoskeletal system benign neoplasm' SubClassOf 'benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0000634 thoracic benign neoplasm 'thoracic benign neoplasm' SubClassOf 'neoplasm of thorax' 'thoracic benign neoplasm' SubClassOf 'benign neoplasm' 'thoracic benign neoplasm' SubClassOf 'neoplasm of thorax' 'thoracic benign neoplasm' SubClassOf 'benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0024610 parasitic skin disorder 'parasitic skin disorder' SubClassOf 'parasitic infection' 'parasitic skin disorder' SubClassOf 'parasitic infection' http://www.orpha.net/ORDO/Orphanet_99875 Ehlers-Danlos syndrome type 7A 'Ehlers-Danlos syndrome type 7A' SubClassOf 'Ehlers-Danlos syndrome, arthrochalasic type' 'Ehlers-Danlos syndrome type 7A' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99877 Familial parathyroid adenoma 'Familial parathyroid adenoma' SubClassOf 'Inborn errors of metabolism' 'Familial parathyroid adenoma' EquivalentTo 'parathyroid adenoma' and ('has modifier' some 'inherited') http://www.orpha.net/ORDO/Orphanet_99876 Ehlers-Danlos syndrome type 7B 'Ehlers-Danlos syndrome type 7B' SubClassOf 'Ehlers-Danlos syndrome, arthrochalasic type' 'Ehlers-Danlos syndrome type 7B' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0000648 nervous system benign neoplasm 'nervous system benign neoplasm' SubClassOf 'nervous system neoplasm' 'nervous system benign neoplasm' SubClassOf 'benign neoplasm' 'nervous system benign neoplasm' SubClassOf 'nervous system neoplasm' 'nervous system benign neoplasm' SubClassOf 'benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0000647 benign vaginal neoplasm 'benign vaginal neoplasm' SubClassOf 'benign female reproductive system neoplasm' 'benign vaginal neoplasm' SubClassOf 'benign female reproductive system neoplasm' http://purl.obolibrary.org/obo/MONDO_0000651 thoracic disorder 'thoracic disorder' SubClassOf 'disease' http://purl.obolibrary.org/obo/MONDO_0000650 peritoneal benign neoplasm 'peritoneal benign neoplasm' SubClassOf 'benign neoplasm' 'peritoneal benign neoplasm' SubClassOf 'peritoneal neoplasm' 'peritoneal benign neoplasm' SubClassOf 'benign neoplasm' 'peritoneal benign neoplasm' SubClassOf 'peritoneal neoplasm' http://www.orpha.net/ORDO/Orphanet_85297 X-linked spinocerebellar ataxia type 3 'X-linked spinocerebellar ataxia type 3' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked spinocerebellar ataxia type 3' SubClassOf 'X-linked cerebellar ataxia' 'X-linked spinocerebellar ataxia type 3' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0000654 benign connective and soft tissue neoplasm 'benign connective and soft tissue neoplasm' SubClassOf 'connective and soft tissue neoplasm' 'benign connective and soft tissue neoplasm' SubClassOf 'connective and soft tissue neoplasm' http://purl.obolibrary.org/obo/MONDO_0000653 integumentary system cancer 'integumentary system cancer' SubClassOf 'cancer' 'integumentary system cancer' SubClassOf 'cancer' http://purl.obolibrary.org/obo/MONDO_0000652 integumentary system benign neoplasm 'integumentary system benign neoplasm' SubClassOf 'benign neoplasm' 'integumentary system benign neoplasm' SubClassOf 'benign neoplasm' http://www.orpha.net/ORDO/Orphanet_99879 Familial isolated hyperparathyroidism 'Familial isolated hyperparathyroidism' SubClassOf 'Inherited cancer-predisposing syndrome' 'Familial isolated hyperparathyroidism' SubClassOf 'Familial primary hyperparathyroidism' 'Familial isolated hyperparathyroidism' SubClassOf 'Familial primary hyperparathyroidism' http://www.orpha.net/ORDO/Orphanet_99878 Primary parathyroids hyperplasia 'Primary parathyroids hyperplasia' SubClassOf 'Familial primary hyperparathyroidism' 'Primary parathyroids hyperplasia' SubClassOf 'Familial primary hyperparathyroidism' http://www.orpha.net/ORDO/Orphanet_85290 X-linked intellectual disability, Wilson type 'X-linked intellectual disability, Wilson type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Wilson type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 http://www.orpha.net/ORDO/Orphanet_85292 X-linked spinocerebellar ataxia type 4 'X-linked spinocerebellar ataxia type 4' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked spinocerebellar ataxia type 4' SubClassOf 'X-linked cerebellar ataxia' 'X-linked spinocerebellar ataxia type 4' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_85291 X-linked intellectual disability, Wittwer type 'X-linked intellectual disability, Wittwer type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Wittwer type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 http://www.orpha.net/ORDO/Orphanet_85294 X-linked epilepsy - learning disabilities - behavior disorders 'X-linked epilepsy - learning disabilities - behavior disorders' SubClassOf 'Monogenic disease with epilepsy' 'X-linked epilepsy - learning disabilities - behavior disorders' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked epilepsy - learning disabilities - behavior disorders' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 'X-linked epilepsy - learning disabilities - behavior disorders' SubClassOf 'Monogenic disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_85293 X-linked intellectual disability, Cabezas type 'X-linked intellectual disability, Cabezas type' SubClassOf 'congenital nervous system disorder' 'X-linked intellectual disability, Cabezas type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Cabezas type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability, Cabezas type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99886 Transient neonatal diabetes mellitus 'Transient neonatal diabetes mellitus' SubClassOf 'Neonatal diabetes mellitus' 'Transient neonatal diabetes mellitus' SubClassOf 'Neonatal diabetes mellitus' http://www.orpha.net/ORDO/Orphanet_99885 Permanent neonatal diabetes mellitus 'Permanent neonatal diabetes mellitus' SubClassOf 'Neonatal diabetes mellitus' 'Permanent neonatal diabetes mellitus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99880 Hyperparathyroidism-jaw tumor syndrome 'Hyperparathyroidism-jaw tumor syndrome' SubClassOf 'Familial primary hyperparathyroidism' 'Hyperparathyroidism-jaw tumor syndrome' SubClassOf 'Inherited renal cancer-predisposing syndrome' 'Hyperparathyroidism-jaw tumor syndrome' SubClassOf 'kidney neoplasm' 'Hyperparathyroidism-jaw tumor syndrome' SubClassOf 'Familial primary hyperparathyroidism' 'Hyperparathyroidism-jaw tumor syndrome' SubClassOf 'Inherited renal cancer-predisposing syndrome' http://www.orpha.net/ORDO/Orphanet_85285 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 http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_85284 BRESEK syndrome 'BRESEK syndrome' SubClassOf 'congenital nervous system disorder' 'BRESEK syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'BRESEK syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'BRESEK syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_85287 X-linked intellectual disability, Siderius type 'X-linked intellectual disability, Siderius type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability, Siderius type' SubClassOf 'congenital nervous system disorder' 'X-linked intellectual disability, Siderius type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Siderius type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability, Siderius type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 http://www.orpha.net/ORDO/Orphanet_85286 X-linked intellectual disability, Shashi type 'X-linked intellectual disability, Shashi type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability, Shashi type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Shashi type' SubClassOf 'congenital nervous system disorder' 'X-linked intellectual disability, Shashi type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability, Shashi type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 http://www.orpha.net/ORDO/Orphanet_85289 X-linked intellectual disability, Vitale type 'X-linked intellectual disability, Vitale type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Vitale type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 http://www.orpha.net/ORDO/Orphanet_85288 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 http://purl.obolibrary.org/obo/MONDO_0020119 http://www.orpha.net/ORDO/Orphanet_97229 Riboflavin transporter deficiency 'Riboflavin transporter deficiency' SubClassOf 'disease has major feature' some 'Bulbospinal muscular atrophy' http://www.orpha.net/ORDO/Orphanet_85280 X-linked intellectual disability - cubitus valgus - dysmorphism 'X-linked intellectual disability - cubitus valgus - dysmorphism' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability - cubitus valgus - dysmorphism' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability - cubitus valgus - dysmorphism' SubClassOf 'congenital nervous system disorder' 'X-linked intellectual disability - cubitus valgus - dysmorphism' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability - cubitus valgus - dysmorphism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 http://www.orpha.net/ORDO/Orphanet_85283 X-linked intellectual disability, Miles-Carpenter type 'X-linked intellectual disability, Miles-Carpenter type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Miles-Carpenter type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability, Miles-Carpenter type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_85282 MEHMO syndrome 'MEHMO syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'MEHMO syndrome' SubClassOf 'Syndromic obesity' 'MEHMO syndrome' SubClassOf 'Mitochondrial disease with peripheral neuropathy' 'MEHMO syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_97231 Ligneous conjunctivitis 'Ligneous conjunctivitis' SubClassOf 'has modifier' some 'rare' 'Ligneous conjunctivitis' SubClassOf 'chronic conjunctivitis' 'Ligneous conjunctivitis' SubClassOf 'conjunctivitis' http://www.orpha.net/ORDO/Orphanet_97232 Fingerprint body myopathy 'Fingerprint body myopathy' SubClassOf 'Congenital myopathy' 'Fingerprint body myopathy' SubClassOf 'Congenital myopathy' http://www.orpha.net/ORDO/Orphanet_97234 Glycogen storage disease due to phosphoglycerate mutase deficiency 'Glycogen storage disease due to phosphoglycerate mutase deficiency' SubClassOf 'Muscular glycogenosis' 'Glycogen storage disease due to phosphoglycerate mutase deficiency' SubClassOf 'Glycogen storage disease' 'Glycogen storage disease due to phosphoglycerate mutase deficiency' SubClassOf 'Muscular glycogenosis' 'Glycogen storage disease due to phosphoglycerate mutase deficiency' SubClassOf 'Glycogen storage disease' http://purl.obolibrary.org/obo/MONDO_0024637 malignant soft tissue neoplasm 'malignant soft tissue neoplasm' SubClassOf 'cancer' 'malignant soft tissue neoplasm' SubClassOf 'cancer' http://www.orpha.net/ORDO/Orphanet_261494 Kleefstra syndrome 'Kleefstra syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Kleefstra syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Kleefstra syndrome' SubClassOf 'syndromic intellectual disability' 'Kleefstra syndrome' SubClassOf 'congenital nervous system disorder' 'Kleefstra syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_85274 Syndromic X-linked intellectual disability 7 'Syndromic X-linked intellectual disability 7' SubClassOf 'congenital nervous system disorder' 'Syndromic X-linked intellectual disability 7' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Syndromic X-linked intellectual disability 7' SubClassOf 'X-linked syndromic intellectual disability' 'Syndromic X-linked intellectual disability 7' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Syndromic X-linked intellectual disability 7' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 http://www.orpha.net/ORDO/Orphanet_85273 X-linked intellectual disability, Abidi type 'X-linked intellectual disability, Abidi type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Abidi type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability, Abidi type' SubClassOf 'congenital nervous system disorder' 'X-linked intellectual disability, Abidi type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 'X-linked intellectual disability, Abidi type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_85276 X-linked intellectual disability, Armfield type 'X-linked intellectual disability, Armfield type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability, Armfield type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Armfield type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_85275 Microphthalmia - ankyloblepharon - intellectual disability 'Microphthalmia - ankyloblepharon - intellectual disability' SubClassOf 'X-linked syndromic intellectual disability' 'Microphthalmia - ankyloblepharon - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 http://purl.obolibrary.org/obo/MONDO_0024622 thyroid gland adenocarcinoma 'thyroid gland adenocarcinoma' SubClassOf 'adenocarcinoma' 'thyroid gland adenocarcinoma' SubClassOf 'adenocarcinoma' http://www.orpha.net/ORDO/Orphanet_85278 Christianson syndrome 'Christianson syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Christianson syndrome' SubClassOf 'X-linked cerebellar ataxia' 'Christianson syndrome' SubClassOf 'congenital nervous system disorder' 'Christianson syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Christianson syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0024621 serous cystadenocarcinoma 'serous cystadenocarcinoma' SubClassOf 'cystadenocarcinoma' 'serous cystadenocarcinoma' SubClassOf 'serous adenocarcinoma' 'serous cystadenocarcinoma' SubClassOf 'cystadenocarcinoma' 'serous cystadenocarcinoma' SubClassOf 'serous adenocarcinoma' http://www.orpha.net/ORDO/Orphanet_85277 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 http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0024623 otorhinolaryngologic disease 'otorhinolaryngologic disease' SubClassOf 'head and neck disorder' 'otorhinolaryngologic disease' SubClassOf 'disease' http://www.orpha.net/ORDO/Orphanet_85279 Syndromic X-linked intellectual disability due to JARID1C mutation 'Syndromic X-linked intellectual disability due to JARID1C mutation' SubClassOf 'congenital nervous system disorder' 'Syndromic X-linked intellectual disability due to JARID1C mutation' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Syndromic X-linked intellectual disability due to JARID1C mutation' SubClassOf 'X-linked syndromic intellectual disability' 'Syndromic X-linked intellectual disability due to JARID1C mutation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 'Syndromic X-linked intellectual disability due to JARID1C mutation' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_97239 Reducing body myopathy 'Reducing body myopathy' SubClassOf 'Congenital myopathy' 'Reducing body myopathy' SubClassOf 'Congenital myopathy' http://www.orpha.net/ORDO/Orphanet_97242 Congenital muscular dystrophy 'Congenital muscular dystrophy' SubClassOf 'Muscular dystrophy' 'Congenital muscular dystrophy' SubClassOf 'congenital nervous system disorder' 'Congenital muscular dystrophy' SubClassOf 'Muscular dystrophy' http://www.orpha.net/ORDO/Orphanet_97244 Rigid spine syndrome 'Rigid spine syndrome' SubClassOf 'Congenital muscular dystrophy' 'Rigid spine syndrome' SubClassOf 'Qualitative or quantitative defects of selenoprotein N1' 'Rigid spine syndrome' SubClassOf 'Qualitative or quantitative defects of desmin' 'Rigid spine syndrome' SubClassOf 'Congenital muscular dystrophy' 'Rigid spine syndrome' SubClassOf 'Qualitative or quantitative defects of selenoprotein N1' 'Rigid spine syndrome' SubClassOf 'Qualitative or quantitative defects of desmin' http://www.orpha.net/ORDO/Orphanet_97245 Congenital myopathy 'Congenital myopathy' SubClassOf 'has modifier' some 'congenital' 'Congenital myopathy' SubClassOf 'Non-dystrophic myopathy' 'Congenital myopathy' SubClassOf 'Non-dystrophic myopathy' http://www.orpha.net/ORDO/Orphanet_261483 Xq27.3q28 duplication syndrome 'Xq27.3q28 duplication syndrome' SubClassOf 'Partial duplication of the long arm of chromosome X' 'Xq27.3q28 duplication syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_97240 Zebra body myopathy 'Zebra body myopathy' SubClassOf 'alpha-actinopathy' 'Zebra body myopathy' SubClassOf 'Congenital myopathy' http://purl.obolibrary.org/obo/MONDO_0012662 Usher syndrome type 2D 'Usher syndrome type 2D' SubClassOf 'Usher syndrome type 2' 'Usher syndrome type 2D' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016484 http://www.orpha.net/ORDO/Orphanet_319494 Familial nonmedullary thyroid carcinoma 'Familial nonmedullary thyroid carcinoma' SubClassOf 'thyroid carcinoma' 'Familial nonmedullary thyroid carcinoma' SubClassOf 'has modifier' some 'rare' 'Familial nonmedullary thyroid carcinoma' SubClassOf 'genetic disorder' 'Familial nonmedullary thyroid carcinoma' SubClassOf 'thyroid carcinoma' http://purl.obolibrary.org/obo/MONDO_0000698 gamma-amino butyric acid metabolism disorder 'gamma-amino butyric acid metabolism disorder' SubClassOf 'Disorder of gamma-aminobutyric acid metabolism' 'gamma-amino butyric acid metabolism disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019224 http://purl.obolibrary.org/obo/MONDO_0012676 autosomal recessive osteopetrosis 4 'autosomal recessive osteopetrosis 4' SubClassOf 'Autosomal recessive malignant osteopetrosis' 'autosomal recessive osteopetrosis 4' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019026 http://purl.obolibrary.org/obo/MONDO_0024677 pancreatic insulinoma 'pancreatic insulinoma' SubClassOf 'insulinoma' 'pancreatic insulinoma' SubClassOf 'insulinoma' http://purl.obolibrary.org/obo/MONDO_0024662 colorectal tubulovillous adenoma 'colorectal tubulovillous adenoma' SubClassOf 'tubulovillous adenoma' 'colorectal tubulovillous adenoma' SubClassOf 'tubulovillous adenoma' http://purl.obolibrary.org/obo/MONDO_0024666 benign epithelial skin neoplasm 'benign epithelial skin neoplasm' SubClassOf 'epithelial skin neoplasm' 'benign epithelial skin neoplasm' SubClassOf 'epithelial skin neoplasm' http://purl.obolibrary.org/obo/MONDO_0024665 indeterminate sex and/or pseudohermaphroditism 'indeterminate sex and/or pseudohermaphroditism' SubClassOf 'Genetic disorder of sex development' 'indeterminate sex and/or pseudohermaphroditism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002145 http://www.orpha.net/ORDO/Orphanet_319480 Acute myeloid leukemia with CEBPA somatic mutations 'Acute myeloid leukemia with CEBPA somatic mutations' SubClassOf 'Inherited acute myeloid leukemia' 'Acute myeloid leukemia with CEBPA somatic mutations' SubClassOf 'acute myeloid leukemia' 'Acute myeloid leukemia with CEBPA somatic mutations' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017893 'Acute myeloid leukemia with CEBPA somatic mutations' SubClassOf 'acute myeloid leukemia' http://www.orpha.net/ORDO/Orphanet_248408 Familial hypodysfibrinogenemia 'Familial hypodysfibrinogenemia' SubClassOf 'Familial afibrinogenemia' 'Familial hypodysfibrinogenemia' SubClassOf 'Congenital fibrinogen deficiency' http://www.orpha.net/ORDO/Orphanet_319487 Familial papillary or follicular thyroid carcinoma 'Familial papillary or follicular thyroid carcinoma' SubClassOf 'Familial nonmedullary thyroid carcinoma' 'Familial papillary or follicular thyroid carcinoma' SubClassOf 'differentiated thyroid carcinoma' 'Familial papillary or follicular thyroid carcinoma' SubClassOf 'Familial nonmedullary thyroid carcinoma' 'Familial papillary or follicular thyroid carcinoma' SubClassOf 'differentiated thyroid carcinoma' http://purl.obolibrary.org/obo/MONDO_0009064 ocular cystinosis 'ocular cystinosis' SubClassOf 'Cystinosis' 'ocular cystinosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016239 'ocular cystinosis' SubClassOf 'eye disease' http://www.orpha.net/ORDO/Orphanet_97297 Bohring-Opitz syndrome 'Bohring-Opitz syndrome' SubClassOf 'syndromic intellectual disability' 'Bohring-Opitz syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Bohring-Opitz syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Bohring-Opitz syndrome' SubClassOf 'congenital nervous system disorder' 'Bohring-Opitz syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0009063 ventriculomegaly-cystic kidney disease 'ventriculomegaly-cystic kidney disease' SubClassOf 'Familial cystic renal disease' 'ventriculomegaly-cystic kidney disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019741 http://www.orpha.net/ORDO/Orphanet_97290 Familial papillary thyroid carcinoma with renal papillary neoplasia 'Familial papillary thyroid carcinoma with renal papillary neoplasia' SubClassOf 'Familial nonmedullary thyroid carcinoma' 'Familial papillary thyroid carcinoma with renal papillary neoplasia' SubClassOf 'Inherited renal cancer-predisposing syndrome' 'Familial papillary thyroid carcinoma with renal papillary neoplasia' SubClassOf 'Familial nonmedullary thyroid carcinoma' http://www.orpha.net/ORDO/Orphanet_319462 Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations 'Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations' SubClassOf 'Inherited renal cancer-predisposing syndrome' 'Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_319465 Inherited acute myeloid leukemia 'Inherited acute myeloid leukemia' SubClassOf 'myeloproliferative disorder' 'Inherited acute myeloid leukemia' SubClassOf 'Acute Leukemia' 'Inherited acute myeloid leukemia' SubClassOf 'myeloid leukemia' 'Inherited acute myeloid leukemia' EquivalentTo 'acute myeloid leukemia' and ('has modifier' some 'inherited') 'Inherited acute myeloid leukemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017893 'Inherited acute myeloid leukemia' SubClassOf 'acute myeloid leukemia' http://www.orpha.net/ORDO/Orphanet_488191 female infertility due to oocyte meiotic arrest 'female infertility due to oocyte meiotic arrest' SubClassOf 'Rare genetic female infertility' 'female infertility due to oocyte meiotic arrest' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0009609 myocarditis 'myocarditis' SubClassOf 'intrinsic cardiomyopathy' 'myocarditis' SubClassOf 'intrinsic cardiomyopathy' http://www.ebi.ac.uk/efo/EFO_0009604 labyrinthitis 'labyrinthitis' SubClassOf 'inner ear disease' 'labyrinthitis' SubClassOf 'inner ear disease' http://purl.obolibrary.org/obo/MONDO_0010075 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 'spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures' SubClassOf 'Spondyloepimetaphyseal dysplasia with joint laxity' 'spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019675 http://purl.obolibrary.org/obo/MONDO_0036688 rhabdomyoma 'rhabdomyoma' SubClassOf 'benign muscle neoplasm' 'rhabdomyoma' SubClassOf 'benign muscle neoplasm' http://purl.obolibrary.org/obo/MONDO_0034024 kyphoscoliotic Ehlers-Danlos syndrome 'kyphoscoliotic Ehlers-Danlos syndrome' SubClassOf 'Ehlers-Danlos syndrome' 'kyphoscoliotic Ehlers-Danlos syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020066 http://purl.obolibrary.org/obo/MONDO_0034022 Bethlem myopathy 2 'Bethlem myopathy 2' SubClassOf 'Ehlers-Danlos syndrome' 'Bethlem myopathy 2' SubClassOf 'Bethlem myopathy' 'Bethlem myopathy 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020066 'Bethlem myopathy 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0008029 http://www.orpha.net/ORDO/Orphanet_200421 Immunodeficiency with factor H anomaly 'Immunodeficiency with factor H anomaly' SubClassOf 'complement factor H deficiency' http://www.orpha.net/ORDO/Orphanet_200418 Immunodeficiency with factor I anomaly 'Immunodeficiency with factor I anomaly' SubClassOf 'Immunodeficiency due to a complement cascade protein anomaly' 'Immunodeficiency with factor I anomaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0036484 Charcot-Marie-Tooth disease, dominant intermediate G 'Charcot-Marie-Tooth disease, dominant intermediate G' SubClassOf 'intermediate Charcot-Marie-Tooth disease' 'Charcot-Marie-Tooth disease, dominant intermediate G' SubClassOf 'intermediate Charcot-Marie-Tooth disease' http://www.ebi.ac.uk/efo/EFO_0009544 esophageal disease 'esophageal disease' SubClassOf 'thoracic disorder' http://www.ebi.ac.uk/efo/EFO_0009546 eye adnexa disease 'eye adnexa disease' SubClassOf 'disease of orbital region' 'eye adnexa disease' SubClassOf 'disease of orbital region' http://www.ebi.ac.uk/efo/EFO_0009541 disease of peritoneum 'disease of peritoneum' SubClassOf 'abdominal and pelvic region disorder' http://www.ebi.ac.uk/efo/EFO_0009547 eyelid disease 'eyelid disease' SubClassOf 'eye adnexa disease' 'eyelid disease' SubClassOf 'eye adnexa disease' http://www.ebi.ac.uk/efo/EFO_0009548 fallopian tube disease 'fallopian tube disease' SubClassOf 'abdominal and pelvic region disorder' http://www.ebi.ac.uk/efo/EFO_0009532 autonomic nervous system disease 'autonomic nervous system disease' SubClassOf 'peripheral nervous system disease' 'autonomic nervous system disease' SubClassOf 'peripheral nervous system disease' http://www.ebi.ac.uk/efo/EFO_0009537 cervical disc degenerative disorder 'cervical disc degenerative disorder' SubClassOf 'lumbar disc degeneration' 'cervical disc degenerative disorder' SubClassOf 'lumbar disc degeneration' http://www.ebi.ac.uk/efo/EFO_0009538 chronic inflammatory demyelinating polyneuropathy 'chronic inflammatory demyelinating polyneuropathy' SubClassOf 'Genetic peripheral neuropathy' 'chronic inflammatory demyelinating polyneuropathy' SubClassOf 'Genetic neurodegenerative disease' 'chronic inflammatory demyelinating polyneuropathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020127 'chronic inflammatory demyelinating polyneuropathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024237 http://www.ebi.ac.uk/efo/EFO_0009561 parasitic intestinal disease 'parasitic intestinal disease' SubClassOf 'parasitic infection' 'parasitic intestinal disease' SubClassOf 'parasitic infection' http://www.ebi.ac.uk/efo/EFO_0009562 polyneuropathy 'polyneuropathy' SubClassOf 'peripheral neuropathy' 'polyneuropathy' SubClassOf 'peripheral neuropathy' http://www.orpha.net/ORDO/Orphanet_26793 Very long chain acyl-CoA dehydrogenase deficiency 'Very long chain acyl-CoA dehydrogenase deficiency' SubClassOf 'Long chain acyl-CoA dehydrogenase deficiency' 'Very long chain acyl-CoA dehydrogenase deficiency' SubClassOf 'Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_26792 Short chain acyl-CoA dehydrogenase deficiency 'Short chain acyl-CoA dehydrogenase deficiency' SubClassOf 'Muscular lipidosis' 'Short chain acyl-CoA dehydrogenase deficiency' SubClassOf 'Acyl-CoA dehydrogenase deficiency' 'Short chain acyl-CoA dehydrogenase deficiency' SubClassOf 'Muscular lipidosis' 'Short chain acyl-CoA dehydrogenase deficiency' SubClassOf 'Acyl-CoA dehydrogenase deficiency' http://www.orpha.net/ORDO/Orphanet_26791 Multiple acyl-CoA dehydrogenase deficiency 'Multiple acyl-CoA dehydrogenase deficiency' SubClassOf 'familial hypertrophic cardiomyopathy' 'Multiple acyl-CoA dehydrogenase deficiency' SubClassOf 'Muscular lipidosis' 'Multiple acyl-CoA dehydrogenase deficiency' SubClassOf 'glutaric aciduria' 'Multiple acyl-CoA dehydrogenase deficiency' SubClassOf 'Mitochondrial myopathy' 'Multiple acyl-CoA dehydrogenase deficiency' SubClassOf 'Acyl-CoA dehydrogenase deficiency' 'Multiple acyl-CoA dehydrogenase deficiency' SubClassOf 'Muscular lipidosis' 'Multiple acyl-CoA dehydrogenase deficiency' SubClassOf 'Acyl-CoA dehydrogenase deficiency' http://www.ebi.ac.uk/efo/EFO_0009556 mineral metabolism disease 'mineral metabolism disease' SubClassOf 'metabolic disease' 'mineral metabolism disease' SubClassOf 'metabolic disease' http://www.ebi.ac.uk/efo/EFO_0009558 mononeuropathy 'mononeuropathy' SubClassOf 'peripheral neuropathy' 'mononeuropathy' SubClassOf 'peripheral neuropathy' http://www.ebi.ac.uk/efo/EFO_0009560 otitis externa 'otitis externa' SubClassOf 'external ear disease' 'otitis externa' SubClassOf 'external ear disease' http://www.orpha.net/ORDO/Orphanet_99706 Progeria-associated arthropathy 'Progeria-associated arthropathy' SubClassOf 'has modifier' some 'rare' 'Progeria-associated arthropathy' SubClassOf 'rheumatic disease' 'Progeria-associated arthropathy' SubClassOf 'hereditary disorder of connective tissue' http://www.orpha.net/ORDO/Orphanet_99718 Leber plus disease 'Leber plus disease' SubClassOf 'Optic neuropathy' 'Leber plus disease' SubClassOf 'Mitochondrial disease with dilated cardiomyopathy' 'Leber plus disease' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' 'Leber plus disease' SubClassOf 'Mitochondrial disease with eye involvement' 'Leber plus disease' SubClassOf 'Mitochondrial disease with hypertrophic cardiomyopathy' 'Leber plus disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99732 Sulfite oxidase deficiency due to molybdenum cofactor deficiency 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency' SubClassOf 'inborn metal metabolism disorder' 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency' SubClassOf 'Disorder of other vitamins and cofactors metabolism and transport' 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency' SubClassOf 'Encephalopathy due to sulfite oxidase deficiency' 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency' SubClassOf 'Disorder of other vitamins and cofactors metabolism and transport' 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency' SubClassOf 'Encephalopathy due to sulfite oxidase deficiency' http://www.orpha.net/ORDO/Orphanet_99731 Isolated sulfite oxidase deficiency 'Isolated sulfite oxidase deficiency' SubClassOf 'Encephalopathy due to sulfite oxidase deficiency' 'Isolated sulfite oxidase deficiency' SubClassOf 'Encephalopathy due to sulfite oxidase deficiency' http://www.orpha.net/ORDO/Orphanet_99734 Myotonia fluctuans 'Myotonia fluctuans' SubClassOf 'Potassium-aggravated myotonia' 'Myotonia fluctuans' SubClassOf 'Potassium-aggravated myotonia' http://www.orpha.net/ORDO/Orphanet_99736 Acetazolamide-responsive myotonia 'Acetazolamide-responsive myotonia' SubClassOf 'Potassium-aggravated myotonia' 'Acetazolamide-responsive myotonia' SubClassOf 'Potassium-aggravated myotonia' http://www.orpha.net/ORDO/Orphanet_99741 King-Denborough syndrome 'King-Denborough syndrome' SubClassOf 'disease shares features of' some 'Noonan syndrome' 'King-Denborough syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'King-Denborough syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'King-Denborough syndrome' SubClassOf 'RYR1-related myopathy' 'King-Denborough syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'King-Denborough syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' 'King-Denborough syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99742 Amish lethal microcephaly 'Amish lethal microcephaly' SubClassOf 'Syndrome with microcephaly as major feature' 'Amish lethal microcephaly' SubClassOf 'thiamine-responsive dysfunction syndrome' 'Amish lethal microcephaly' SubClassOf 'disorder of development or morphogenesis' 'Amish lethal microcephaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99701 Mesial temporal lobe epilepsy with hippocampal sclerosis 'Mesial temporal lobe epilepsy with hippocampal sclerosis' SubClassOf 'Familial partial epilepsy' 'Mesial temporal lobe epilepsy with hippocampal sclerosis' SubClassOf 'movement disorder' 'Mesial temporal lobe epilepsy with hippocampal sclerosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017704 'Mesial temporal lobe epilepsy with hippocampal sclerosis' SubClassOf 'Familial partial epilepsy' http://www.orpha.net/ORDO/Orphanet_85146 Scapuloperoneal amyotrophy 'Scapuloperoneal amyotrophy' SubClassOf 'Qualitative or quantitative defects of desmin' http://www.orpha.net/ORDO/Orphanet_261349 2p15p16.1 microdeletion syndrome '2p15p16.1 microdeletion syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 2' '2p15p16.1 microdeletion syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99796 Subcortical band heterotopia 'Subcortical band heterotopia' SubClassOf 'syndromic disease' 'Subcortical band heterotopia' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_99798 Oligodontia 'Oligodontia' SubClassOf 'Rare odontal or periodontal disorder' 'Oligodontia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99797 Anodontia 'Anodontia' SubClassOf 'tooth disease' 'Anodontia' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_99792 Dentin dysplasia - sclerotic bones 'Dentin dysplasia - sclerotic bones' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_99791 Dentin dysplasia type II 'Dentin dysplasia type II' SubClassOf 'genetic disorder' 'Dentin dysplasia type II' SubClassOf 'Dentin dysplasia' 'Dentin dysplasia type II' SubClassOf 'Dentin dysplasia' http://www.orpha.net/ORDO/Orphanet_261337 Distal 22q11.2 microduplication syndrome 'Distal 22q11.2 microduplication syndrome' SubClassOf '22q11.2 microduplication syndrome' 'Distal 22q11.2 microduplication syndrome' SubClassOf 'Partial duplication of the long arm of chromosome 22' http://www.orpha.net/ORDO/Orphanet_85136 Cystic leukoencephalopathy without megalencephaly 'Cystic leukoencephalopathy without megalencephaly' SubClassOf 'Leukodystrophy' 'Cystic leukoencephalopathy without megalencephaly' SubClassOf 'Leukodystrophy' http://www.orpha.net/ORDO/Orphanet_319547 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency 'Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency' SubClassOf 'mycobacterial infectious disease' 'Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency' SubClassOf 'immunodeficiency 28' http://www.orpha.net/ORDO/Orphanet_85128 Bothnia retinal dystrophy 'Bothnia retinal dystrophy' SubClassOf 'RLBP1-related retinopathy' 'Bothnia retinal dystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_261344 Trisomy 1q 'Trisomy 1q' SubClassOf 'Partial duplication of the long arm of chromosome 1' 'Trisomy 1q' SubClassOf 'Partial duplication of the long arm of chromosome 1' http://www.orpha.net/ORDO/Orphanet_319519 Combined oxidative phosphorylation defect type 14 'Combined oxidative phosphorylation defect type 14' SubClassOf 'combined oxidative phosphorylation deficiency' http://www.orpha.net/ORDO/Orphanet_319514 Combined oxidative phosphorylation defect type 13 'Combined oxidative phosphorylation defect type 13' SubClassOf 'combined oxidative phosphorylation deficiency' http://www.orpha.net/ORDO/Orphanet_261330 Distal 22q11.2 microdeletion syndrome 'Distal 22q11.2 microdeletion syndrome' SubClassOf '22q11.2 deletion syndrome' 'Distal 22q11.2 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 22' http://www.orpha.net/ORDO/Orphanet_261318 Trisomy 20p 'Trisomy 20p' SubClassOf 'Partial trisomy of chromosome 20' 'Trisomy 20p' SubClassOf 'Partial trisomy of chromosome 20' http://www.orpha.net/ORDO/Orphanet_85110 Familial encephalopathy with neuroserpin inclusion bodies 'Familial encephalopathy with neuroserpin inclusion bodies' SubClassOf 'Progressive myoclonic epilepsy' 'Familial encephalopathy with neuroserpin inclusion bodies' SubClassOf 'Progressive myoclonic epilepsy' http://www.orpha.net/ORDO/Orphanet_85112 Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma 'Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma' SubClassOf 'Diffuse palmoplantar keratoderma' 'Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma' SubClassOf 'autosomal recessive disease' 'Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma' SubClassOf 'Genetic 46,XX disorder of sex development' http://www.orpha.net/ORDO/Orphanet_319524 Combined oxidative phosphorylation defect type 15 'Combined oxidative phosphorylation defect type 15' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0000515 bone chondrosarcoma 'bone chondrosarcoma' SubClassOf 'chondrosarcoma' 'bone chondrosarcoma' SubClassOf 'chondrosarcoma' http://www.orpha.net/ORDO/Orphanet_261323 21q22.11q22.12 microdeletion syndrome '21q22.11q22.12 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 21' '21q22.11q22.12 microdeletion syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_85186 Endosteal sclerosis - cerebellar hypoplasia 'Endosteal sclerosis - cerebellar hypoplasia' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Endosteal sclerosis - cerebellar hypoplasia' SubClassOf 'central nervous system malformation' 'Endosteal sclerosis - cerebellar hypoplasia' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_85188 Metaphyseal dysplasia, Braun-Tinschert type 'Metaphyseal dysplasia, Braun-Tinschert type' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0000521 salivary gland carcinoma 'salivary gland carcinoma' SubClassOf 'salivary gland cancer' 'salivary gland carcinoma' SubClassOf 'salivary gland cancer' http://www.orpha.net/ORDO/Orphanet_99749 Kostmann syndrome 'Kostmann syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' 'Kostmann syndrome' SubClassOf 'autosomal recessive severe congenital neutropenia' 'Kostmann syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_85182 Diaphyseal medullary stenosis - bone malignancy 'Diaphyseal medullary stenosis - bone malignancy' SubClassOf 'bone neoplasm' 'Diaphyseal medullary stenosis - bone malignancy' SubClassOf 'Primary bone dysplasia' 'Diaphyseal medullary stenosis - bone malignancy' SubClassOf 'hereditary disorder of connective tissue' http://www.orpha.net/ORDO/Orphanet_85184 Craniometadiaphyseal dysplasia, wormian bone type 'Craniometadiaphyseal dysplasia, wormian bone type' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_99750 Atypical progressive supranuclear palsy 'Atypical progressive supranuclear palsy' SubClassOf 'Progressive supranuclear palsy' 'Atypical progressive supranuclear palsy' SubClassOf 'Progressive supranuclear palsy' http://www.orpha.net/ORDO/Orphanet_85175 Astley-Kendall dysplasia 'Astley-Kendall dysplasia' SubClassOf 'Chondrodysplasia punctata' 'Astley-Kendall dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_85174 Pseudodiastrophic dysplasia 'Pseudodiastrophic dysplasia' SubClassOf 'developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_319509 Combined oxidative phosphorylation defect type 9 'Combined oxidative phosphorylation defect type 9' SubClassOf 'combined oxidative phosphorylation deficiency' http://www.orpha.net/ORDO/Orphanet_85179 Infantile osteopetrosis with neuroaxonal dysplasia 'Infantile osteopetrosis with neuroaxonal dysplasia' SubClassOf 'Osteopetrosis' 'Infantile osteopetrosis with neuroaxonal dysplasia' SubClassOf 'Osteopetrosis' http://www.orpha.net/ORDO/Orphanet_319504 Combined oxidative phosphorylation defect type 8 'Combined oxidative phosphorylation defect type 8' SubClassOf 'combined oxidative phosphorylation deficiency' http://www.orpha.net/ORDO/Orphanet_85170 Mesomelic dysplasia, Savarirayan type 'Mesomelic dysplasia, Savarirayan type' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' 'Mesomelic dysplasia, Savarirayan type' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' http://www.orpha.net/ORDO/Orphanet_85173 IMAGe syndrome 'IMAGe syndrome' SubClassOf 'Genetic chronic primary adrenal insufficiency' 'IMAGe syndrome' SubClassOf 'syndromic disease' 'IMAGe syndrome' SubClassOf 'has modifier' some 'rare' 'IMAGe syndrome' SubClassOf 'Slender bone dysplasia' 'IMAGe syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'IMAGe syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type 'Microcephalic osteodysplastic dysplasia, Saul-Wilson type' SubClassOf 'intellectual disability, autosomal dominant' 'Microcephalic osteodysplastic dysplasia, Saul-Wilson type' SubClassOf 'Microcephalic primordial dwarfism' 'Microcephalic osteodysplastic dysplasia, Saul-Wilson type' SubClassOf 'Microcephalic primordial dwarfism' http://www.orpha.net/ORDO/Orphanet_99763 Familial hyperreninemic hypoaldosteronism type 1 'Familial hyperreninemic hypoaldosteronism type 1' SubClassOf 'Familial hypoaldosteronism' 'Familial hyperreninemic hypoaldosteronism type 1' SubClassOf 'Familial hypoaldosteronism' http://www.orpha.net/ORDO/Orphanet_99764 Familial hyperreninemic hypoaldosteronism type 2 'Familial hyperreninemic hypoaldosteronism type 2' SubClassOf 'Familial hypoaldosteronism' 'Familial hyperreninemic hypoaldosteronism type 2' SubClassOf 'Familial hypoaldosteronism' http://www.orpha.net/ORDO/Orphanet_85164 Camptodactyly - tall stature - scoliosis - hearing loss 'Camptodactyly - tall stature - scoliosis - hearing loss' SubClassOf 'FGFR3-related chondrodysplasia' 'Camptodactyly - tall stature - scoliosis - hearing loss' SubClassOf 'autosomal genetic disease' 'Camptodactyly - tall stature - scoliosis - hearing loss' SubClassOf 'Dysostosis of genetic origin' 'Camptodactyly - tall stature - scoliosis - hearing loss' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019685 http://purl.obolibrary.org/obo/MONDO_0000540 small intestinal neuroendocrine tumor G1 'small intestinal neuroendocrine tumor G1' SubClassOf 'intestinal neuroendocrine tumor G1' 'small intestinal neuroendocrine tumor G1' SubClassOf 'intestinal neuroendocrine tumor G1' http://www.orpha.net/ORDO/Orphanet_85163 Hypomyelination - congenital cataract 'Hypomyelination - congenital cataract' SubClassOf 'Syndromic cataract' 'Hypomyelination - congenital cataract' SubClassOf 'Leukodystrophy' 'Hypomyelination - congenital cataract' SubClassOf 'syndromic intellectual disability' 'Hypomyelination - congenital cataract' SubClassOf 'eye degenerative disorder' 'Hypomyelination - congenital cataract' SubClassOf 'Syndromic cataract' 'Hypomyelination - congenital cataract' SubClassOf 'Leukodystrophy' http://www.orpha.net/ORDO/Orphanet_85166 Platyspondylic dysplasia, Torrance type 'Platyspondylic dysplasia, Torrance type' SubClassOf 'type 2 collagenopathy' 'Platyspondylic dysplasia, Torrance type' SubClassOf 'hereditary disorder of connective tissue' 'Platyspondylic dysplasia, Torrance type' SubClassOf 'Spondylodysplastic dysplasia' 'Platyspondylic dysplasia, Torrance type' SubClassOf 'Spondylodysplastic dysplasia' http://www.orpha.net/ORDO/Orphanet_85165 Severe achondroplasia - developmental delay - acanthosis nigricans 'Severe achondroplasia - developmental delay - acanthosis nigricans' SubClassOf 'epidermal disease' 'Severe achondroplasia - developmental delay - acanthosis nigricans' SubClassOf 'autosomal dominant disease' 'Severe achondroplasia - developmental delay - acanthosis nigricans' SubClassOf 'FGFR3-related chondrodysplasia' 'Severe achondroplasia - developmental delay - acanthosis nigricans' SubClassOf 'genetic skin disease' 'Severe achondroplasia - developmental delay - acanthosis nigricans' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019685 http://www.orpha.net/ORDO/Orphanet_85168 Craniofacial conodysplasia 'Craniofacial conodysplasia' SubClassOf 'Acromelic dysplasia' 'Craniofacial conodysplasia' SubClassOf 'Acromelic dysplasia' http://www.orpha.net/ORDO/Orphanet_85167 Spondylometaphyseal dysplasia - cone-rod dystrophy 'Spondylometaphyseal dysplasia - cone-rod dystrophy' SubClassOf 'Spondylometaphyseal dysplasia' 'Spondylometaphyseal dysplasia - cone-rod dystrophy' SubClassOf 'Spondylometaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_85169 Familial digital arthropathy-brachydactyly 'Familial digital arthropathy-brachydactyly' SubClassOf 'congenital limb malformation' 'Familial digital arthropathy-brachydactyly' SubClassOf 'TRPV4-related bone disorder' 'Familial digital arthropathy-brachydactyly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018240 http://www.orpha.net/ORDO/Orphanet_85162 Facial onset sensory and motor neuronopathy 'Facial onset sensory and motor neuronopathy' SubClassOf 'Genetic neurodegenerative disease' 'Facial onset sensory and motor neuronopathy' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_99776 Mosaic trisomy 9 'Mosaic trisomy 9' SubClassOf 'chromosome 9 disorder' 'Mosaic trisomy 9' SubClassOf 'Total autosomal trisomy' 'Mosaic trisomy 9' SubClassOf 'has modifier' some 'mosaic' 'Mosaic trisomy 9' SubClassOf 'trisomy' 'Mosaic trisomy 9' SubClassOf 'Total autosomal trisomy' http://purl.obolibrary.org/obo/MONDO_0012524 corticosterone methyloxidase type 2 deficiency 'corticosterone methyloxidase type 2 deficiency' SubClassOf 'Familial hyperreninemic hypoaldosteronism type 1' 'corticosterone methyloxidase type 2 deficiency' SubClassOf 'genetic disorder' 'corticosterone methyloxidase type 2 deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020489 http://purl.obolibrary.org/obo/MONDO_0024516 familial acne inversa 'familial acne inversa' SubClassOf 'hidradenitis suppurativa' 'familial acne inversa' SubClassOf 'hidradenitis suppurativa' http://purl.obolibrary.org/obo/MONDO_0000548 ovarian clear cell cancer 'ovarian clear cell cancer' SubClassOf 'Malignant epithelial tumor of ovary' 'ovarian clear cell cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018364 http://purl.obolibrary.org/obo/MONDO_0024502 gallbladder neuroendocrine neoplasm 'gallbladder neuroendocrine neoplasm' SubClassOf 'Genetic endocrine tumor' 'gallbladder neuroendocrine neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0025511 http://purl.obolibrary.org/obo/MONDO_0012538 nemaline myopathy 7 'nemaline myopathy 7' SubClassOf 'Typical nemaline myopathy' 'nemaline myopathy 7' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015737 http://www.orpha.net/ORDO/Orphanet_97120 Distal arthrogryposis 'Distal arthrogryposis' SubClassOf 'Arthrogryposis syndrome' 'Distal arthrogryposis' SubClassOf 'muscle tissue disorder' 'Distal arthrogryposis' SubClassOf 'Arthrogryposis syndrome' http://www.orpha.net/ORDO/Orphanet_99789 Dentin dysplasia type I 'Dentin dysplasia type I' SubClassOf 'Dentin dysplasia' 'Dentin dysplasia type I' SubClassOf 'genetic disorder' 'Dentin dysplasia type I' SubClassOf 'Dentin dysplasia' http://purl.obolibrary.org/obo/MONDO_0000565 infective endocarditis 'infective endocarditis' SubClassOf 'endocarditis' 'infective endocarditis' SubClassOf 'endocarditis' http://www.ebi.ac.uk/efo/EFO_1002001 core binding factor acute myeloid leukemia 'core binding factor acute myeloid leukemia' SubClassOf 'Inherited acute myeloid leukemia' 'core binding factor acute myeloid leukemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017893 http://purl.obolibrary.org/obo/MONDO_0036511 childhood malignant kidney neoplasm 'childhood malignant kidney neoplasm' SubClassOf 'kidney cancer' 'childhood malignant kidney neoplasm' SubClassOf 'childhood kidney neoplasm' 'childhood malignant kidney neoplasm' SubClassOf 'kidney cancer' 'childhood malignant kidney neoplasm' SubClassOf 'childhood kidney neoplasm' http://purl.obolibrary.org/obo/MONDO_0000568 autoimmune disorder of central nervous system 'autoimmune disorder of central nervous system' SubClassOf 'central nervous system disease' 'autoimmune disorder of central nervous system' SubClassOf 'autoimmune disorder of the nervous system' 'autoimmune disorder of central nervous system' SubClassOf 'central nervous system disease' 'autoimmune disorder of central nervous system' SubClassOf 'autoimmune disorder of the nervous system' http://purl.obolibrary.org/obo/MONDO_0000573 recombinase activating gene 2 deficiency 'recombinase activating gene 2 deficiency' SubClassOf 'Severe combined immunodeficiency' 'recombinase activating gene 2 deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015974 http://purl.obolibrary.org/obo/MONDO_0000572 recombinase activating gene 1 deficiency 'recombinase activating gene 1 deficiency' SubClassOf 'Severe combined immunodeficiency' 'recombinase activating gene 1 deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015974 http://purl.obolibrary.org/obo/MONDO_0024525 Fanconi renotubular syndrome 1 'Fanconi renotubular syndrome 1' SubClassOf 'Primary Fanconi syndrome' 'Fanconi renotubular syndrome 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0007600 http://www.ebi.ac.uk/efo/EFO_1002018 bronchial disease 'bronchial disease' SubClassOf 'thoracic disorder' http://www.ebi.ac.uk/efo/EFO_1002017 differentiated thyroid carcinoma 'differentiated thyroid carcinoma' SubClassOf 'thyroid carcinoma' 'differentiated thyroid carcinoma' SubClassOf 'thyroid carcinoma' http://www.orpha.net/ORDO/Orphanet_248305 Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency 'Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency' SubClassOf 'normocytic anemia' http://www.ebi.ac.uk/efo/EFO_1002028 cicatricial alopecia 'cicatricial alopecia' SubClassOf 'genetic alopecia' http://purl.obolibrary.org/obo/MONDO_0012561 congenital anomalies of kidney and urinary tract 1 'congenital anomalies of kidney and urinary tract 1' SubClassOf 'Genetic renal or urinary tract malformation' 'congenital anomalies of kidney and urinary tract 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019719 http://www.orpha.net/ORDO/Orphanet_319595 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency 'Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency' SubClassOf 'Susceptibility to viral and mycobacterial infections' 'Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency' SubClassOf 'Mendelian susceptibility to mycobacterial diseases' http://purl.obolibrary.org/obo/MONDO_0012565 Fanconi anemia complementation group N 'Fanconi anemia complementation group N' SubClassOf 'Fanconi anemia' 'Fanconi anemia complementation group N' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019391 http://www.orpha.net/ORDO/Orphanet_85197 Genochondromatosis type 1 'Genochondromatosis type 1' SubClassOf 'genochondromatosis' http://www.ebi.ac.uk/efo/EFO_1002031 Hodgkins lymphoma, mixed cellularity 'Hodgkins lymphoma, mixed cellularity' SubClassOf 'classic Hodgkin lymphoma' 'Hodgkins lymphoma, mixed cellularity' SubClassOf 'classic Hodgkin lymphoma' http://purl.obolibrary.org/obo/MONDO_0000594 pervasive developmental disorder 'specific developmental disorder' DisjointWith 'pervasive developmental disorder' 'specific developmental disorder' DisjointWith 'pervasive developmental disorder' http://www.orpha.net/ORDO/Orphanet_85199 Craniosynostosis - anal anomalies - porokeratosis 'Craniosynostosis - anal anomalies - porokeratosis' SubClassOf 'Syndromic craniosynostosis' 'Craniosynostosis - anal anomalies - porokeratosis' SubClassOf 'Primary bone dysplasia' 'Craniosynostosis - anal anomalies - porokeratosis' SubClassOf 'Syndromic craniosynostosis' http://www.orpha.net/ORDO/Orphanet_85198 Dysspondyloenchondromatosis 'Dysspondyloenchondromatosis' SubClassOf 'Primary bone dysplasia' http://purl.obolibrary.org/obo/MONDO_0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 'hypertrophic osteoarthropathy, primary, autosomal recessive, 1' SubClassOf 'Primary hypertrophic osteoarthropathy' 'hypertrophic osteoarthropathy, primary, autosomal recessive, 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016620 http://www.ebi.ac.uk/efo/EFO_1002039 renal hypertension 'renal hypertension' SubClassOf 'secondary hypertension' 'renal hypertension' SubClassOf 'secondary hypertension' http://www.orpha.net/ORDO/Orphanet_85191 Singleton-Merten dysplasia 'Singleton-Merten dysplasia' SubClassOf 'type 1 interferonopathy' 'Singleton-Merten dysplasia' SubClassOf 'Primary bone dysplasia with decreased bone density' 'Singleton-Merten dysplasia' SubClassOf 'hereditary disorder of connective tissue' 'Singleton-Merten dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0000592 specific developmental disorder 'specific developmental disorder' DisjointWith 'pervasive developmental disorder' 'specific developmental disorder' DisjointWith 'pervasive developmental disorder' http://www.orpha.net/ORDO/Orphanet_85193 Idiopathic juvenile osteoporosis 'Idiopathic juvenile osteoporosis' SubClassOf 'idiopathic disease' 'Idiopathic juvenile osteoporosis' SubClassOf 'rheumatic disease' 'Idiopathic juvenile osteoporosis' SubClassOf 'has modifier' some 'rare' 'Idiopathic juvenile osteoporosis' SubClassOf 'hereditary disorder of connective tissue' 'Idiopathic juvenile osteoporosis' SubClassOf 'osteoporosis' http://www.orpha.net/ORDO/Orphanet_85192 Calvarial doughnut lesions - bone fragility 'Calvarial doughnut lesions - bone fragility' SubClassOf 'Primary bone dysplasia' http://purl.obolibrary.org/obo/MONDO_0000590 autoimmune disorder of peripheral nervous system 'autoimmune disorder of peripheral nervous system' SubClassOf 'autoimmune disorder of the nervous system' 'autoimmune disorder of peripheral nervous system' SubClassOf 'peripheral nervous system disease' 'autoimmune disorder of peripheral nervous system' SubClassOf 'autoimmune disorder of the nervous system' 'autoimmune disorder of peripheral nervous system' SubClassOf 'peripheral nervous system disease' http://www.orpha.net/ORDO/Orphanet_85195 Familial expansile osteolysis 'Familial expansile osteolysis' SubClassOf 'Primary osteolysis' 'Familial expansile osteolysis' SubClassOf 'Primary osteolysis' http://www.orpha.net/ORDO/Orphanet_85194 Spondylo-ocular syndrome 'Spondylo-ocular syndrome' SubClassOf 'Syndromic cataract' 'Spondylo-ocular syndrome' SubClassOf 'Congenital vitreoretinal dysplasia' http://www.orpha.net/ORDO/Orphanet_261304 Paternal 20q13.2q13.3 microdeletion syndrome 'Paternal 20q13.2q13.3 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 20' 'Paternal 20q13.2q13.3 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 20' http://purl.obolibrary.org/obo/MONDO_0012586 coronary artery disease, autosomal dominant 2 'coronary artery disease, autosomal dominant 2' SubClassOf 'coronary artery disease' 'coronary artery disease, autosomal dominant 2' SubClassOf 'coronary artery disease' http://www.orpha.net/ORDO/Orphanet_319574 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency' SubClassOf 'immunodeficiency 28' http://www.orpha.net/ORDO/Orphanet_261311 20q13.33 microdeletion syndrome '20q13.33 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 20' '20q13.33 microdeletion syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_319589 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency' SubClassOf 'Mendelian susceptibility to mycobacterial diseases' http://www.orpha.net/ORDO/Orphanet_319581 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency' SubClassOf 'Mendelian susceptibility to mycobacterial diseases' http://purl.obolibrary.org/obo/MONDO_0012590 XFE progeroid syndrome 'XFE progeroid syndrome' SubClassOf 'syndromic disease' 'XFE progeroid syndrome' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_248340 Isolated delta-storage pool disease 'Isolated delta-storage pool disease' SubClassOf 'isolated constitutional thrombocytopenia' http://www.orpha.net/ORDO/Orphanet_319569 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency' SubClassOf 'immunodeficiency 27A' http://www.ebi.ac.uk/efo/EFO_0007203 cervicofacial actinomycosis 'cervicofacial actinomycosis' SubClassOf 'actinomycosis' 'cervicofacial actinomycosis' SubClassOf 'actinomycosis' 'cervicofacial actinomycosis' SubClassOf 'head and neck disorder' http://www.ebi.ac.uk/efo/EFO_0007208 Churg-Strauss syndrome 'Churg-Strauss syndrome' SubClassOf 'syndromic disease' 'Churg-Strauss syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0024361 circadian rhythm sleep disorder 'circadian rhythm sleep disorder' SubClassOf 'sleep-wake disorder' 'circadian rhythm sleep disorder' SubClassOf 'sleep-wake disorder' http://www.ebi.ac.uk/efo/EFO_0009855 frontal fibrosing alopecia 'frontal fibrosing alopecia' SubClassOf 'genetic alopecia' http://www.orpha.net/ORDO/Orphanet_319195 Chondroectodermal dysplasia with night blindness 'Chondroectodermal dysplasia with night blindness' SubClassOf 'Primary bone dysplasia' 'Chondroectodermal dysplasia with night blindness' SubClassOf 'Ectodermal dysplasia syndrome' 'Chondroectodermal dysplasia with night blindness' SubClassOf 'eye disease' 'Chondroectodermal dysplasia with night blindness' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_319199 Autosomal recessive spastic paraplegia type 53 'Autosomal recessive spastic paraplegia type 53' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 53' SubClassOf 'Autosomal recessive complex spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_319192 Diencephalic-mesencephalic junction dysplasia 'Diencephalic-mesencephalic junction dysplasia' SubClassOf 'cerebral malformation' 'Diencephalic-mesencephalic junction dysplasia' SubClassOf 'Rare genetic neurological disorder' http://purl.obolibrary.org/obo/MONDO_0024387 benign ovarian sex cord-stromal tumor 'benign ovarian sex cord-stromal tumor' SubClassOf 'ovarian sex cord-stromal tumor' 'benign ovarian sex cord-stromal tumor' SubClassOf 'ovarian sex cord-stromal tumor' http://www.ebi.ac.uk/efo/EFO_0007210 clonorchiasis 'clonorchiasis' SubClassOf 'Helminthiasis' 'clonorchiasis' SubClassOf 'Helminthiasis' http://purl.obolibrary.org/obo/MONDO_0024389 anaerobic bacteria infectious disease 'anaerobic bacteria infectious disease' SubClassOf 'bacterial disease' 'anaerobic bacteria infectious disease' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_0007217 congenital nystagmus 'congenital nystagmus' SubClassOf 'Rare genetic neurological disorder' 'congenital nystagmus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.ebi.ac.uk/efo/EFO_0007249 emphysematous cholecystitis 'emphysematous cholecystitis' SubClassOf 'Genetic biliary tract disease' 'emphysematous cholecystitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015509 http://www.orpha.net/ORDO/Orphanet_210122 Congenital alveolar capillary dysplasia 'Congenital alveolar capillary dysplasia' SubClassOf 'primary interstitial lung disease specific to childhood' 'Congenital alveolar capillary dysplasia' SubClassOf 'congenital pulmonary veins anomaly' http://www.orpha.net/ORDO/Orphanet_210128 Urocanic aciduria 'Urocanic aciduria' SubClassOf 'Disorder of histidine metabolism' 'Urocanic aciduria' SubClassOf 'Cerebral organic aciduria' 'Urocanic aciduria' SubClassOf 'Neurometabolic disease' 'Urocanic aciduria' SubClassOf 'Disorder of histidine metabolism' 'Urocanic aciduria' SubClassOf 'Neurometabolic disease' http://www.orpha.net/ORDO/Orphanet_319171 Distal 17p13.1 microdeletion syndrome 'Distal 17p13.1 microdeletion syndrome' SubClassOf 'congenital nervous system disorder' 'Distal 17p13.1 microdeletion syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Distal 17p13.1 microdeletion syndrome' SubClassOf 'chromosome 17p13.1 deletion syndrome' 'Distal 17p13.1 microdeletion syndrome' SubClassOf 'syndromic intellectual disability' 'Distal 17p13.1 microdeletion syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.ebi.ac.uk/efo/EFO_0007236 diffuse idiopathic skeletal hyperostosis 'diffuse idiopathic skeletal hyperostosis' SubClassOf 'Dysostosis of genetic origin' 'diffuse idiopathic skeletal hyperostosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018454 http://www.ebi.ac.uk/efo/EFO_0007233 diaphragm disease 'diaphragm disease' SubClassOf 'Genetic skeletal muscle disease' 'diaphragm disease' SubClassOf 'thoracic disorder' 'diaphragm disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020120 http://www.orpha.net/ORDO/Orphanet_210110 Intermediate osteopetrosis 'Intermediate osteopetrosis' SubClassOf 'Autosomal recessive malignant osteopetrosis' 'Intermediate osteopetrosis' SubClassOf 'Osteopetrosis' http://www.orpha.net/ORDO/Orphanet_319189 Familial cortical myoclonus 'Familial cortical myoclonus' SubClassOf 'Primary myoclonus' 'Familial cortical myoclonus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017651 http://www.orpha.net/ORDO/Orphanet_210115 Sterile multifocal osteomyelitis with periostitis and pustulosis 'Sterile multifocal osteomyelitis with periostitis and pustulosis' SubClassOf 'pyogenic autoinflammatory syndrome' 'Sterile multifocal osteomyelitis with periostitis and pustulosis' SubClassOf 'hereditary disorder of connective tissue' http://www.orpha.net/ORDO/Orphanet_319182 Wiedemann-Steiner syndrome 'Wiedemann-Steiner syndrome' SubClassOf 'syndromic intellectual disability' 'Wiedemann-Steiner syndrome' SubClassOf 'congenital nervous system disorder' 'Wiedemann-Steiner syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Wiedemann-Steiner syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Wiedemann-Steiner syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0007263 equine infectious anemia 'equine infectious anemia' SubClassOf 'animal disease' http://www.ebi.ac.uk/efo/EFO_0007269 Felty's syndrome 'Felty's syndrome' SubClassOf 'syndromic disease' 'Felty's syndrome' SubClassOf 'rheumatoid arthritis' 'Felty's syndrome' SubClassOf 'rheumatoid arthritis' 'Felty's syndrome' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_210141 Inherited congenital spastic tetraplegia 'Inherited congenital spastic tetraplegia' SubClassOf 'Rare genetic neurological disorder' 'Inherited congenital spastic tetraplegia' SubClassOf 'spastic cerebral palsy' 'Inherited congenital spastic tetraplegia' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_210144 Lethal polymalformative syndrome, Boissel type 'Lethal polymalformative syndrome, Boissel type' SubClassOf 'genetic lethal multiple congenital anomalies/dysmorphic syndrome' 'Lethal polymalformative syndrome, Boissel type' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome' http://www.ebi.ac.uk/efo/EFO_0007272 filarial elephantiasis 'filarial elephantiasis' SubClassOf 'skin disease' http://www.orpha.net/ORDO/Orphanet_210133 Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair 'Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair' SubClassOf 'Syndromic nail anomaly' 'Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair' SubClassOf 'Genetic hyperpigmentation of the skin' 'Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair' SubClassOf 'Syndromic nail anomaly' http://www.orpha.net/ORDO/Orphanet_48431 Congenital cataracts - facial dysmorphism - neuropathy 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf 'Autosomal recessive hereditary demyelinating motor and sensory neuropathy' 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf 'syndromic intellectual disability' 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf 'Partial duplication of the short arm of chromosome 16' 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf 'congenital nervous system disorder' 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf 'Syndromic epicanthus' 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf 'Autosomal recessive degenerative and progressive cerebellar ataxia' 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf 'Autosomal recessive hereditary demyelinating motor and sensory neuropathy' 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf 'Syndromic epicanthus' 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf 'Autosomal recessive degenerative and progressive cerebellar ataxia' http://www.orpha.net/ORDO/Orphanet_319160 Congenital myopathy with internal nuclei and atypical cores 'Congenital myopathy with internal nuclei and atypical cores' SubClassOf 'Congenital myopathy with cores' 'Congenital myopathy with internal nuclei and atypical cores' SubClassOf 'Centronuclear myopathy' 'Congenital myopathy with internal nuclei and atypical cores' SubClassOf 'Congenital myopathy with cores' http://www.ebi.ac.uk/efo/EFO_0007287 glucosephosphate dehydrogenase deficiency 'glucosephosphate dehydrogenase deficiency' SubClassOf 'Disorder of carbohydrate metabolism' 'glucosephosphate dehydrogenase deficiency' SubClassOf 'Disorder of carbohydrate metabolism' 'glucosephosphate dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019214 http://www.orpha.net/ORDO/Orphanet_3289 Taurodontism 'Taurodontism' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_295081 Fibular hemimelia, unilateral 'Fibular hemimelia, unilateral' SubClassOf 'Fibular hemimelia' 'Fibular hemimelia, unilateral' SubClassOf 'Fibular hemimelia' http://www.orpha.net/ORDO/Orphanet_3286 Catecholaminergic polymorphic ventricular tachycardia 'Catecholaminergic polymorphic ventricular tachycardia' SubClassOf 'ventricular tachycardia, familial' 'Catecholaminergic polymorphic ventricular tachycardia' SubClassOf 'heart conduction disease' 'Catecholaminergic polymorphic ventricular tachycardia' SubClassOf 'polymorphic ventricular tachycardia' 'Catecholaminergic polymorphic ventricular tachycardia' SubClassOf 'Genetic cardiac rhythm disease' http://www.ebi.ac.uk/efo/EFO_0007289 gnathomiasis 'gnathomiasis' SubClassOf 'Helminthiasis' 'gnathomiasis' SubClassOf 'Helminthiasis' http://www.orpha.net/ORDO/Orphanet_3283 His bundle tachycardia 'His bundle tachycardia' SubClassOf 'Genetic cardiac rhythm disease' 'His bundle tachycardia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295083 Fibular hemimelia, bilateral 'Fibular hemimelia, bilateral' SubClassOf 'Fibular hemimelia' 'Fibular hemimelia, bilateral' SubClassOf 'Fibular hemimelia' http://www.orpha.net/ORDO/Orphanet_295089 Congenital absence of thigh and lower leg with foot present, unilateral 'Congenital absence of thigh and lower leg with foot present, unilateral' SubClassOf 'Congenital absence of thigh and lower leg with foot present' 'Congenital absence of thigh and lower leg with foot present, unilateral' SubClassOf 'Congenital absence of thigh and lower leg with foot present' http://www.ebi.ac.uk/efo/EFO_0007292 Guillain-Barre syndrome 'Guillain-Barre syndrome' SubClassOf 'syndromic disease' 'Guillain-Barre syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0007276 follicular dendritic cell sarcoma 'follicular dendritic cell sarcoma' SubClassOf 'dendritic cell sarcoma' 'follicular dendritic cell sarcoma' SubClassOf 'dendritic cell sarcoma' http://www.orpha.net/ORDO/Orphanet_295093 Congenital absence of both forearm and hand, unilateral 'Congenital absence of both forearm and hand, unilateral' SubClassOf 'Congenital absence of both forearm and hand' 'Congenital absence of both forearm and hand, unilateral' SubClassOf 'Congenital absence of both forearm and hand' http://www.orpha.net/ORDO/Orphanet_295091 Congenital absence of thigh and lower leg with foot present, bilateral 'Congenital absence of thigh and lower leg with foot present, bilateral' SubClassOf 'Congenital absence of thigh and lower leg with foot present' 'Congenital absence of thigh and lower leg with foot present, bilateral' SubClassOf 'Congenital absence of thigh and lower leg with foot present' http://www.orpha.net/ORDO/Orphanet_295097 Congenital absence of both lower leg and foot, unilateral 'Congenital absence of both lower leg and foot, unilateral' SubClassOf 'Congenital absence of both lower leg and foot' 'Congenital absence of both lower leg and foot, unilateral' SubClassOf 'Congenital absence of both lower leg and foot' http://www.ebi.ac.uk/efo/EFO_0007278 fungal lung infectious disease 'fungal lung infectious disease' SubClassOf 'fungal infectious disease' 'fungal lung infectious disease' SubClassOf 'fungal infectious disease' http://www.orpha.net/ORDO/Orphanet_295095 Congenital absence of both forearm and hand, bilateral 'Congenital absence of both forearm and hand, bilateral' SubClassOf 'Congenital absence of both forearm and hand' 'Congenital absence of both forearm and hand, bilateral' SubClassOf 'Congenital absence of both forearm and hand' http://www.orpha.net/ORDO/Orphanet_3294 Extensor tendons of finger anomalies 'Extensor tendons of finger anomalies' SubClassOf 'has modifier' some 'rare' 'Extensor tendons of finger anomalies' SubClassOf 'congenital limb malformation' http://www.orpha.net/ORDO/Orphanet_3293 Telecanthus - hypertelorism - strabismus - pes cavus 'Telecanthus - hypertelorism - strabismus - pes cavus' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Telecanthus - hypertelorism - strabismus - pes cavus' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_295099 Congenital absence of both lower leg and foot, bilateral 'Congenital absence of both lower leg and foot, bilateral' SubClassOf 'Congenital absence of both lower leg and foot' 'Congenital absence of both lower leg and foot, bilateral' SubClassOf 'Congenital absence of both lower leg and foot' http://www.orpha.net/ORDO/Orphanet_165805 Familial mesial temporal lobe epilepsy with febrile seizures 'Familial mesial temporal lobe epilepsy with febrile seizures' SubClassOf 'febrile seizures, familial' 'Familial mesial temporal lobe epilepsy with febrile seizures' SubClassOf 'Familial partial epilepsy' 'Familial mesial temporal lobe epilepsy with febrile seizures' SubClassOf 'Familial partial epilepsy' http://www.orpha.net/ORDO/Orphanet_3292 Tel Hashomer camptodactyly syndrome 'Tel Hashomer camptodactyly syndrome' SubClassOf 'Genetic skeletal muscle disease' 'Tel Hashomer camptodactyly syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3291 Teebi-Shaltout syndrome 'Teebi-Shaltout syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Teebi-Shaltout syndrome' SubClassOf 'Dysostosis of genetic origin' 'Teebi-Shaltout syndrome' SubClassOf 'Dysostosis with predominant craniofacial involvement' 'Teebi-Shaltout syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0007280 gastrointestinal tuberculosis 'gastrointestinal tuberculosis' SubClassOf 'Tuberculosis' http://www.ebi.ac.uk/efo/EFO_0007297 HELLP syndrome 'HELLP syndrome' SubClassOf 'syndromic disease' 'HELLP syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0007296 hantavirus pulmonary syndrome 'hantavirus pulmonary syndrome' SubClassOf 'syndromic disease' 'hantavirus pulmonary syndrome' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_48471 Lissencephaly 'Lissencephaly' SubClassOf 'disorder of development or morphogenesis' 'Lissencephaly' SubClassOf 'congenital nervous system disorder' 'Lissencephaly' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_3242 Renpenning syndrome 'Renpenning syndrome' SubClassOf 'Syndromic anorectal malformation' 'Renpenning syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Renpenning syndrome' SubClassOf 'congenital nervous system disorder' 'Renpenning syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Renpenning syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3241 Deafness-craniofacial syndrome 'Deafness-craniofacial syndrome' SubClassOf 'congenital nervous system disorder' 'Deafness-craniofacial syndrome' SubClassOf 'Syndromic genetic deafness' 'Deafness-craniofacial syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Deafness-craniofacial syndrome' SubClassOf 'Syndromic genetic deafness' 'Deafness-craniofacial syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_295041 Patella aplasia/hypoplasia, bilateral 'Patella aplasia/hypoplasia, bilateral' SubClassOf 'Patella aplasia/hypoplasia' 'Patella aplasia/hypoplasia, bilateral' SubClassOf 'Patella aplasia/hypoplasia' http://www.orpha.net/ORDO/Orphanet_3240 Central nervous system calcification - deafness - tubular acidosis - anemia 'Central nervous system calcification - deafness - tubular acidosis - anemia' SubClassOf 'syndromic intellectual disability' 'Central nervous system calcification - deafness - tubular acidosis - anemia' SubClassOf 'Syndromic genetic deafness' 'Central nervous system calcification - deafness - tubular acidosis - anemia' SubClassOf 'Primary renal tubular acidosis' 'Central nervous system calcification - deafness - tubular acidosis - anemia' SubClassOf 'Syndromic genetic deafness' 'Central nervous system calcification - deafness - tubular acidosis - anemia' SubClassOf 'Primary renal tubular acidosis' http://www.orpha.net/ORDO/Orphanet_295044 Macrodactyly of fingers 'Macrodactyly of fingers' SubClassOf 'Limb overgrowth' 'Macrodactyly of fingers' SubClassOf 'Limb overgrowth' http://www.orpha.net/ORDO/Orphanet_295049 Upper limb hypertrophy 'Upper limb hypertrophy' SubClassOf 'Limb overgrowth' 'Upper limb hypertrophy' SubClassOf 'Limb overgrowth' http://www.orpha.net/ORDO/Orphanet_3248 Distal symphalangism 'Distal symphalangism' SubClassOf 'symphalangism' 'Distal symphalangism' SubClassOf 'Joint formation defects' 'Distal symphalangism' SubClassOf 'Joint formation defects' http://www.orpha.net/ORDO/Orphanet_102283 Multiple congenital anomalies/dysmorphic syndrome-intellectual disability 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome' 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_295047 Macrodactyly of toes 'Macrodactyly of toes' SubClassOf 'Limb overgrowth' 'Macrodactyly of toes' SubClassOf 'Limb overgrowth' http://www.orpha.net/ORDO/Orphanet_3246 Symphalangism with multiple anomalies of hands and feet 'Symphalangism with multiple anomalies of hands and feet' SubClassOf 'congenital limb malformation' 'Symphalangism with multiple anomalies of hands and feet' SubClassOf 'symphalangism' http://www.orpha.net/ORDO/Orphanet_85458 Hereditary cerebral hemorrhage with amyloidosis 'Hereditary cerebral hemorrhage with amyloidosis' SubClassOf 'Genetic central nervous system and retinal vascular disease' http://www.orpha.net/ORDO/Orphanet_85450 Familial renal amyloidosis 'Familial renal amyloidosis' SubClassOf 'secondary glomerular disease' 'Familial renal amyloidosis' SubClassOf 'hereditary amyloidosis' http://www.orpha.net/ORDO/Orphanet_3255 Filippi syndrome 'Filippi syndrome' SubClassOf 'syndromic intellectual disability' 'Filippi syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Filippi syndrome' SubClassOf 'congenital nervous system disorder' 'Filippi syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Filippi syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Filippi syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3253 Zlotogora-Ogur syndrome 'Zlotogora-Ogur syndrome' SubClassOf 'autosomal recessive disease' 'Zlotogora-Ogur syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Zlotogora-Ogur syndrome' SubClassOf 'orofacial cleft' 'Zlotogora-Ogur syndrome' SubClassOf 'Cleft lip/palate - ectodermal dysplasia' 'Zlotogora-Ogur syndrome' SubClassOf 'Orofacial clefting syndrome' 'Zlotogora-Ogur syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0009151 'Zlotogora-Ogur syndrome' SubClassOf 'Orofacial clefting syndrome' http://www.orpha.net/ORDO/Orphanet_85451 ATTRV122I amyloidosis 'ATTRV122I amyloidosis' SubClassOf 'familial amyloid neuropathy' 'ATTRV122I amyloidosis' SubClassOf 'cardiac amyloidosis' 'ATTRV122I amyloidosis' SubClassOf 'Familial restrictive cardiomyopathy' 'ATTRV122I amyloidosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295053 Amelia of upper limb, unilateral 'Amelia of upper limb, unilateral' SubClassOf 'Amelia of upper limb' 'Amelia of upper limb, unilateral' SubClassOf 'Amelia of upper limb' http://www.orpha.net/ORDO/Orphanet_85453 X-linked reticulate pigmentary disorder with systemic manifestations 'X-linked reticulate pigmentary disorder with systemic manifestations' SubClassOf 'Syndromic corneal dystrophy' 'X-linked reticulate pigmentary disorder with systemic manifestations' SubClassOf 'hereditary disorder of connective tissue' 'X-linked reticulate pigmentary disorder with systemic manifestations' SubClassOf 'type 1 interferonopathy' 'X-linked reticulate pigmentary disorder with systemic manifestations' SubClassOf 'Syndromic corneal dystrophy' http://www.orpha.net/ORDO/Orphanet_295051 Lower limb hypertrophy 'Lower limb hypertrophy' SubClassOf 'Limb overgrowth' 'Lower limb hypertrophy' SubClassOf 'Limb overgrowth' http://www.orpha.net/ORDO/Orphanet_3250 Proximal symphalangism 'Proximal symphalangism' SubClassOf 'autosomal dominant disease' 'Proximal symphalangism' SubClassOf 'symphalangism' 'Proximal symphalangism' SubClassOf 'congenital limb malformation' http://www.orpha.net/ORDO/Orphanet_295057 Amelia of lower limb, unilateral 'Amelia of lower limb, unilateral' SubClassOf 'Amelia of lower limb' 'Amelia of lower limb, unilateral' SubClassOf 'Amelia of lower limb' http://www.orpha.net/ORDO/Orphanet_295055 Amelia of upper limb, bilateral 'Amelia of upper limb, bilateral' SubClassOf 'Amelia of upper limb' 'Amelia of upper limb, bilateral' SubClassOf 'Amelia of upper limb' http://www.orpha.net/ORDO/Orphanet_3259 Syndactyly-polydactyly-ear lobe syndrome 'Syndactyly-polydactyly-ear lobe syndrome' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_295059 Amelia of lower limb, bilateral 'Amelia of lower limb, bilateral' SubClassOf 'Amelia of lower limb' 'Amelia of lower limb, bilateral' SubClassOf 'Amelia of lower limb' http://www.orpha.net/ORDO/Orphanet_3258 Cenani-Lenz syndrome 'Cenani-Lenz syndrome' SubClassOf 'congenital limb malformation' http://www.orpha.net/ORDO/Orphanet_85447 Familial amyloid polyneuropathy 'Familial amyloid polyneuropathy' SubClassOf 'Familial transthyretin-related amyloidosis' 'Familial amyloid polyneuropathy' SubClassOf 'Rare hereditary systemic disease with peripheral neuropathy' 'Familial amyloid polyneuropathy' SubClassOf 'acquired peripheral neuropathy' 'Familial amyloid polyneuropathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_85448 Familial amyloidosis, Finnish type 'Familial amyloidosis, Finnish type' SubClassOf 'Genetic peripheral neuropathy' 'Familial amyloidosis, Finnish type' SubClassOf 'Syndromic corneal dystrophy' 'Familial amyloidosis, Finnish type' SubClassOf 'hereditary amyloidosis' 'Familial amyloidosis, Finnish type' SubClassOf 'acquired peripheral neuropathy' 'Familial amyloidosis, Finnish type' SubClassOf 'Syndromic corneal dystrophy' 'Familial amyloidosis, Finnish type' SubClassOf 'hereditary amyloidosis' http://www.orpha.net/ORDO/Orphanet_3267 Familial lambdoid synostosis 'Familial lambdoid synostosis' SubClassOf 'Isolated craniosynostosis' 'Familial lambdoid synostosis' SubClassOf 'Isolated craniosynostosis' http://www.orpha.net/ORDO/Orphanet_3266 Humero-radio-ulnar synostosis 'Humero-radio-ulnar synostosis' SubClassOf 'Joint formation defects' 'Humero-radio-ulnar synostosis' SubClassOf 'Joint formation defects' http://www.orpha.net/ORDO/Orphanet_3265 Humero-radial synostosis 'Humero-radial synostosis' SubClassOf 'Joint formation defects' 'Humero-radial synostosis' SubClassOf 'Joint formation defects' http://www.orpha.net/ORDO/Orphanet_85443 AL amyloidosis 'AL amyloidosis' SubClassOf 'amyloidosis' 'AL amyloidosis' SubClassOf 'Non-familial restrictive cardiomyopathy' 'AL amyloidosis' SubClassOf 'familial hypertrophic cardiomyopathy' 'AL amyloidosis' SubClassOf 'Familial restrictive cardiomyopathy' 'AL amyloidosis' SubClassOf 'secondary glomerular disease' 'AL amyloidosis' SubClassOf 'acquired amyloid peripheral neuropathy' 'AL amyloidosis' SubClassOf 'Rare familial disorder with hypertrophic cardiomyopathy' 'AL amyloidosis' SubClassOf 'Genetic peripheral neuropathy' 'AL amyloidosis' SubClassOf 'hereditary amyloidosis' 'AL amyloidosis' SubClassOf 'non-familial hypertrophic cardiomyopathy' 'AL amyloidosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3263 Syngnathia - cleft palate 'Syngnathia - cleft palate' SubClassOf 'Orofacial clefting syndrome' 'Syngnathia - cleft palate' SubClassOf 'Orofacial clefting syndrome' http://www.orpha.net/ORDO/Orphanet_295063 Humeral agenesis/hypoplasia, bilateral 'Humeral agenesis/hypoplasia, bilateral' SubClassOf 'Humeral agenesis/hypoplasia' 'Humeral agenesis/hypoplasia, bilateral' SubClassOf 'Humeral agenesis/hypoplasia' http://www.orpha.net/ORDO/Orphanet_3262 Syngnathia multiple anomalies 'Syngnathia multiple anomalies' SubClassOf 'Dysostosis of genetic origin' http://www.orpha.net/ORDO/Orphanet_85442 Short stature - pituitary and cerebellar defects - small sella turcica 'Short stature - pituitary and cerebellar defects - small sella turcica' SubClassOf 'Combined pituitary hormone deficiencies, genetic forms' http://www.orpha.net/ORDO/Orphanet_3261 Autoimmune lymphoproliferative syndrome 'Autoimmune lymphoproliferative syndrome' SubClassOf 'Lymphoproliferative syndrome' 'Autoimmune lymphoproliferative syndrome' SubClassOf 'neoplastic syndrome' 'Autoimmune lymphoproliferative syndrome' SubClassOf 'type IV hypersensitivity disease' 'Autoimmune lymphoproliferative syndrome' SubClassOf 'Lymphoproliferative syndrome' http://www.orpha.net/ORDO/Orphanet_295061 Humeral agenesis/hypoplasia, unilateral 'Humeral agenesis/hypoplasia, unilateral' SubClassOf 'Humeral agenesis/hypoplasia' 'Humeral agenesis/hypoplasia, unilateral' SubClassOf 'Humeral agenesis/hypoplasia' http://www.orpha.net/ORDO/Orphanet_295067 Femoral agenesis/hypoplasia, bilateral 'Femoral agenesis/hypoplasia, bilateral' SubClassOf 'Femoral agenesis/hypoplasia' 'Femoral agenesis/hypoplasia, bilateral' SubClassOf 'Femoral agenesis/hypoplasia' http://www.orpha.net/ORDO/Orphanet_295065 Femoral agenesis/hypoplasia, unilateral 'Femoral agenesis/hypoplasia, unilateral' SubClassOf 'Femoral agenesis/hypoplasia' 'Femoral agenesis/hypoplasia, unilateral' SubClassOf 'Femoral agenesis/hypoplasia' http://www.orpha.net/ORDO/Orphanet_3269 Radio-ulnar synostosis 'Radio-ulnar synostosis' SubClassOf 'Joint formation defects' 'Radio-ulnar synostosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295069 Radial hemimelia, unilateral 'Radial hemimelia, unilateral' SubClassOf 'Radial hemimelia' 'Radial hemimelia, unilateral' SubClassOf 'Radial hemimelia' http://www.orpha.net/ORDO/Orphanet_3268 Synostosis - microcephaly - scoliosis 'Synostosis - microcephaly - scoliosis' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_295071 Radial hemimelia, bilateral 'Radial hemimelia, bilateral' SubClassOf 'Radial hemimelia' 'Radial hemimelia, bilateral' SubClassOf 'Radial hemimelia' http://www.orpha.net/ORDO/Orphanet_3275 Spondylocarpotarsal synostosis 'Spondylocarpotarsal synostosis' SubClassOf 'Filamin-related bone disorder' 'Spondylocarpotarsal synostosis' SubClassOf 'Spondylodysplastic dysplasia' 'Spondylocarpotarsal synostosis' SubClassOf 'Filamin-related bone disorder' 'Spondylocarpotarsal synostosis' SubClassOf 'Spondylodysplastic dysplasia' http://www.orpha.net/ORDO/Orphanet_295075 Ulnar hemimelia, unilateral 'Ulnar hemimelia, unilateral' SubClassOf 'Ulnar hemimelia' 'Ulnar hemimelia, unilateral' SubClassOf 'Ulnar hemimelia' http://www.orpha.net/ORDO/Orphanet_295073 Ulnar hemimelia, bilateral 'Ulnar hemimelia, bilateral' SubClassOf 'Ulnar hemimelia' 'Ulnar hemimelia, bilateral' SubClassOf 'Ulnar hemimelia' http://www.orpha.net/ORDO/Orphanet_295079 Tibial hemimelia, bilateral 'Tibial hemimelia, bilateral' SubClassOf 'Tibial hemimelia' 'Tibial hemimelia, bilateral' SubClassOf 'Tibial hemimelia' http://www.orpha.net/ORDO/Orphanet_295077 Tibial hemimelia, unilateral 'Tibial hemimelia, unilateral' SubClassOf 'Tibial hemimelia' 'Tibial hemimelia, unilateral' SubClassOf 'Tibial hemimelia' http://www.orpha.net/ORDO/Orphanet_3270 Radio-ulnar synostosis - intellectual disability - hypotonia 'Radio-ulnar synostosis - intellectual disability - hypotonia' SubClassOf 'congenital limb malformation' 'Radio-ulnar synostosis - intellectual disability - hypotonia' SubClassOf 'syndromic intellectual disability' 'Radio-ulnar synostosis - intellectual disability - hypotonia' SubClassOf 'developmental disability' 'Radio-ulnar synostosis - intellectual disability - hypotonia' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Radio-ulnar synostosis - intellectual disability - hypotonia' SubClassOf 'congenital radioulnar synostosis' 'Radio-ulnar synostosis - intellectual disability - hypotonia' SubClassOf 'congenital nervous system disorder' 'Radio-ulnar synostosis - intellectual disability - hypotonia' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_3322 Hoyeraal-Hreidarsson syndrome 'Hoyeraal-Hreidarsson syndrome' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' 'Hoyeraal-Hreidarsson syndrome' SubClassOf 'dyskeratosis congenita, X-linked' 'Hoyeraal-Hreidarsson syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Hoyeraal-Hreidarsson syndrome' SubClassOf 'central nervous system malformation' 'Hoyeraal-Hreidarsson syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3320 Thrombocytopenia - absent radius 'Thrombocytopenia - absent radius' SubClassOf 'Dysostosis of genetic origin' 'Thrombocytopenia - absent radius' SubClassOf 'congenital limb malformation' 'Thrombocytopenia - absent radius' SubClassOf 'syndromic constitutional thrombocytopenia' 'Thrombocytopenia - absent radius' SubClassOf 'congenital hematological disorder' 'Thrombocytopenia - absent radius' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_309851 Disorder of manganese transport 'Disorder of manganese transport' SubClassOf 'Disorder of mineral absorption and transport' 'Disorder of manganese transport' SubClassOf 'Disorder of mineral absorption and transport' http://www.orpha.net/ORDO/Orphanet_295002 Hyperphalangy 'Hyperphalangy' SubClassOf 'Non-syndromic polydactyly, syndactyly and/or hyperphalangy' 'Hyperphalangy' SubClassOf 'Non-syndromic polydactyly, syndactyly and/or hyperphalangy' http://www.orpha.net/ORDO/Orphanet_3329 Tibial aplasia - ectrodactyly 'Tibial aplasia - ectrodactyly' SubClassOf 'Orofacial clefting syndrome' 'Tibial aplasia - ectrodactyly' SubClassOf 'Dysostosis of genetic origin' 'Tibial aplasia - ectrodactyly' SubClassOf 'congenital limb malformation' 'Tibial aplasia - ectrodactyly' SubClassOf 'Orofacial clefting syndrome' http://www.orpha.net/ORDO/Orphanet_295000 Constriction rings syndrome 'Constriction rings syndrome' SubClassOf 'Amniotic bands' 'Constriction rings syndrome' SubClassOf 'Amniotic bands' http://www.orpha.net/ORDO/Orphanet_3328 Absent tibia - polydactyly - arachnoid cyst 'Absent tibia - polydactyly - arachnoid cyst' SubClassOf 'congenital limb malformation' 'Absent tibia - polydactyly - arachnoid cyst' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Absent tibia - polydactyly - arachnoid cyst' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_3327 Thyrocerebrorenal syndrome 'Thyrocerebrorenal syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Thyrocerebrorenal syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' http://www.orpha.net/ORDO/Orphanet_295006 Preaxial polydactyly of toes 'Preaxial polydactyly of toes' SubClassOf 'Polydactyly' 'Preaxial polydactyly of toes' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3326 Thymic-renal-anal-lung dysplasia 'Thymic-renal-anal-lung dysplasia' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Thymic-renal-anal-lung dysplasia' SubClassOf 'Syndromic renal or urinary tract malformation' 'Thymic-renal-anal-lung dysplasia' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Thymic-renal-anal-lung dysplasia' SubClassOf 'Syndromic renal or urinary tract malformation' http://www.orpha.net/ORDO/Orphanet_295004 Central polydactyly of fingers 'Central polydactyly of fingers' SubClassOf 'Polydactyly' 'Central polydactyly of fingers' SubClassOf 'Polydactyly' http://www.orpha.net/ORDO/Orphanet_3324 Familial thrombomodulin anomalies 'Familial thrombomodulin anomalies' SubClassOf 'Rare genetic coagulation disorder' http://www.orpha.net/ORDO/Orphanet_3323 Thrombocytopenia - Robin sequence 'Thrombocytopenia - Robin sequence' SubClassOf 'Orofacial clefting syndrome' 'Thrombocytopenia - Robin sequence' SubClassOf 'Orofacial clefting syndrome' http://www.orpha.net/ORDO/Orphanet_309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome 'Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome' SubClassOf 'hypermanganesemia with dystonia' 'Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome' SubClassOf 'Disorder of manganese transport' 'Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome' SubClassOf 'parkinsonian disorder' 'Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome' SubClassOf 'Disorder of manganese transport' http://www.orpha.net/ORDO/Orphanet_3332 Hypoplastic tibiae - postaxial polydactyly 'Hypoplastic tibiae - postaxial polydactyly' SubClassOf 'tibia, hypoplasia or aplasia of, with polydactyly' 'Hypoplastic tibiae - postaxial polydactyly' SubClassOf 'congenital limb malformation' 'Hypoplastic tibiae - postaxial polydactyly' SubClassOf 'Dysostosis of genetic origin' http://www.orpha.net/ORDO/Orphanet_295012 Syndactyly type 6 'Syndactyly type 6' SubClassOf 'Syndactyly' 'Syndactyly type 6' SubClassOf 'Syndactyly' http://www.orpha.net/ORDO/Orphanet_3339 Toriello-Lacassie-Droste syndrome 'Toriello-Lacassie-Droste syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Toriello-Lacassie-Droste syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3338 Toriello-Carey syndrome 'Toriello-Carey syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Toriello-Carey syndrome' SubClassOf 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' 'Toriello-Carey syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' 'Toriello-Carey syndrome' SubClassOf 'Orofacial clefting syndrome' 'Toriello-Carey syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3337 Primary Fanconi syndrome 'Primary Fanconi syndrome' SubClassOf 'inherited Fanconi renotubular syndrome' 'Primary Fanconi syndrome' SubClassOf 'renal tubule disease' 'Primary Fanconi syndrome' SubClassOf 'Genetic renal tubular disease' http://www.orpha.net/ORDO/Orphanet_295016 Camptodactyly of fingers 'Camptodactyly of fingers' SubClassOf 'Congenital deformities of fingers' 'Camptodactyly of fingers' SubClassOf 'Congenital deformities of fingers' http://www.orpha.net/ORDO/Orphanet_295014 Familial isolated clinodactyly of fingers 'Familial isolated clinodactyly of fingers' SubClassOf 'Congenital deformities of fingers' 'Familial isolated clinodactyly of fingers' SubClassOf 'Congenital deformities of fingers' http://www.orpha.net/ORDO/Orphanet_3344 Weismann-Netter syndrome 'Weismann-Netter syndrome' SubClassOf 'Bent bone dysplasia' 'Weismann-Netter syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3342 Arterial tortuosity syndrome 'Arterial tortuosity syndrome' SubClassOf 'hereditary disorder of connective tissue' 'Arterial tortuosity syndrome' SubClassOf 'inherited cutis laxa' 'Arterial tortuosity syndrome' SubClassOf 'vascular disease' http://www.orpha.net/ORDO/Orphanet_3341 Torticollis - keloids - cryptorchidism - renal dysplasia 'Torticollis - keloids - cryptorchidism - renal dysplasia' SubClassOf 'Syndromic urogenital tract malformation' 'Torticollis - keloids - cryptorchidism - renal dysplasia' SubClassOf 'Syndromic urogenital tract malformation' http://www.orpha.net/ORDO/Orphanet_295020 Congenital pseudoarthrosis of the femur 'Congenital pseudoarthrosis of the femur' SubClassOf 'Congenital pseudoarthrosis of the limbs' 'Congenital pseudoarthrosis of the femur' SubClassOf 'Congenital pseudoarthrosis of the limbs' http://www.orpha.net/ORDO/Orphanet_295024 Congenital pseudoarthrosis of the radius 'Congenital pseudoarthrosis of the radius' SubClassOf 'Congenital pseudoarthrosis of the limbs' 'Congenital pseudoarthrosis of the radius' SubClassOf 'Congenital pseudoarthrosis of the limbs' http://www.orpha.net/ORDO/Orphanet_295022 Congenital pseudoarthrosis of the fibula 'Congenital pseudoarthrosis of the fibula' SubClassOf 'Congenital pseudoarthrosis of the limbs' 'Congenital pseudoarthrosis of the fibula' SubClassOf 'Congenital pseudoarthrosis of the limbs' http://www.orpha.net/ORDO/Orphanet_295028 Tibio-fibular synostosis 'Tibio-fibular synostosis' SubClassOf 'Joint formation defects' 'Tibio-fibular synostosis' SubClassOf 'Joint formation defects' http://www.orpha.net/ORDO/Orphanet_295026 Congenital pseudoarthrosis of the ulna 'Congenital pseudoarthrosis of the ulna' SubClassOf 'Congenital pseudoarthrosis of the limbs' 'Congenital pseudoarthrosis of the ulna' SubClassOf 'Congenital pseudoarthrosis of the limbs' http://www.orpha.net/ORDO/Orphanet_309839 Disorder of copper metabolism 'Disorder of copper metabolism' SubClassOf 'Disorder of mineral absorption and transport' 'Disorder of copper metabolism' SubClassOf 'Disorder of mineral absorption and transport' http://www.orpha.net/ORDO/Orphanet_295018 Congenital pseudoarthrosis of the tibia 'Congenital pseudoarthrosis of the tibia' SubClassOf 'Congenital pseudoarthrosis of the limbs' 'Congenital pseudoarthrosis of the tibia' SubClassOf 'Congenital pseudoarthrosis of the limbs' http://www.orpha.net/ORDO/Orphanet_309833 Disorder of other vitamins and cofactors metabolism and transport 'Disorder of other vitamins and cofactors metabolism and transport' SubClassOf 'Disorder of vitamin and non-protein cofactor absorption and transport ' 'Disorder of other vitamins and cofactors metabolism and transport' SubClassOf 'Disorder of vitamin and non-protein cofactor absorption and transport ' http://www.orpha.net/ORDO/Orphanet_309830 Disorder of catecholamine synthesis 'Disorder of catecholamine synthesis' SubClassOf 'Disorder of neurotransmitter metabolism and transport' 'Disorder of catecholamine synthesis' SubClassOf 'Disorder of neurotransmitter metabolism and transport' http://www.orpha.net/ORDO/Orphanet_309836 Disorder of mineral absorption and transport 'Disorder of mineral absorption and transport' SubClassOf 'Disorder of metabolite absorption and transport' 'Disorder of mineral absorption and transport' SubClassOf 'Disorder of metabolite absorption and transport' http://www.orpha.net/ORDO/Orphanet_3355 Trichoodontoonychial dysplasia 'Trichoodontoonychial dysplasia' SubClassOf 'Ectodermal dysplasia syndrome' 'Trichoodontoonychial dysplasia' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_3354 Tricho-oculo-dermo-vertebral syndrome 'Tricho-oculo-dermo-vertebral syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Tricho-oculo-dermo-vertebral syndrome' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_3353 Trichodermodysplasia - dental alterations 'Trichodermodysplasia - dental alterations' SubClassOf 'Ectodermal dysplasia syndrome' 'Trichodermodysplasia - dental alterations' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_3352 Tricho-dento-osseous syndrome 'Tricho-dento-osseous syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Tricho-dento-osseous syndrome' SubClassOf 'Syndromic hair shaft abnormality' 'Tricho-dento-osseous syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Tricho-dento-osseous syndrome' SubClassOf 'Syndromic hair shaft abnormality' http://www.orpha.net/ORDO/Orphanet_3351 Trichodental syndrome 'Trichodental syndrome' SubClassOf 'Syndromic hair shaft abnormality' 'Trichodental syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Trichodental syndrome' SubClassOf 'Syndromic hair shaft abnormality' 'Trichodental syndrome' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_295030 Congenital shoulder dislocation 'Congenital shoulder dislocation' SubClassOf 'Congenital joint dislocations' 'Congenital shoulder dislocation' SubClassOf 'Congenital joint dislocations' http://www.orpha.net/ORDO/Orphanet_295034 Congenital knee dislocation 'Congenital knee dislocation' SubClassOf 'Congenital joint dislocations' 'Congenital knee dislocation' SubClassOf 'Congenital joint dislocations' http://www.orpha.net/ORDO/Orphanet_295032 Congenital elbow dislocation 'Congenital elbow dislocation' SubClassOf 'Congenital joint dislocations' 'Congenital elbow dislocation' SubClassOf 'Congenital joint dislocations' http://www.orpha.net/ORDO/Orphanet_295038 Patella aplasia/hypoplasia, unilateral 'Patella aplasia/hypoplasia, unilateral' SubClassOf 'Patella aplasia/hypoplasia' 'Patella aplasia/hypoplasia, unilateral' SubClassOf 'Patella aplasia/hypoplasia' http://www.orpha.net/ORDO/Orphanet_3357 Autosomal dominant trichoodontoonychodysplasia-syndactyly 'Autosomal dominant trichoodontoonychodysplasia-syndactyly' SubClassOf 'Ectodermal dysplasia syndrome' 'Autosomal dominant trichoodontoonychodysplasia-syndactyly' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_295036 Congenital patella dislocation 'Congenital patella dislocation' SubClassOf 'Congenital joint dislocations' 'Congenital patella dislocation' SubClassOf 'Congenital joint dislocations' http://www.orpha.net/ORDO/Orphanet_309842 Disorder of iron metabolism and transport 'Disorder of iron metabolism and transport' SubClassOf 'Disorder of mineral absorption and transport' 'Disorder of iron metabolism and transport' SubClassOf 'Disorder of mineral absorption and transport' http://www.orpha.net/ORDO/Orphanet_309848 Disorder of magnesium transport 'Disorder of magnesium transport' SubClassOf 'Disorder of mineral absorption and transport' 'Disorder of magnesium transport' SubClassOf 'Disorder of mineral absorption and transport' http://www.orpha.net/ORDO/Orphanet_309845 Disorder of zinc metabolism 'Disorder of zinc metabolism' SubClassOf 'Disorder of mineral absorption and transport' 'Disorder of zinc metabolism' SubClassOf 'Disorder of mineral absorption and transport' http://www.orpha.net/ORDO/Orphanet_309819 Disorder of pterin metabolism 'Disorder of pterin metabolism' SubClassOf 'Disorder of neurotransmitter metabolism and transport' 'Disorder of pterin metabolism' SubClassOf 'Disorder of neurotransmitter metabolism and transport' http://www.orpha.net/ORDO/Orphanet_309816 Disorder of bilirubin metabolism and excretion 'Disorder of bilirubin metabolism and excretion' EquivalentTo 'bilirubin metabolism disease' and ('has modifier' some 'inherited') 'Disorder of bilirubin metabolism and excretion' SubClassOf 'bilirubin metabolism disease' 'Disorder of bilirubin metabolism and excretion' SubClassOf 'Disorder of porphyrin and haem metabolism' 'Disorder of bilirubin metabolism and excretion' SubClassOf 'Disorder of porphyrin and haem metabolism' http://www.orpha.net/ORDO/Orphanet_309810 Disorder of peroxisomal alpha-, beta- and omega-oxidation 'Disorder of peroxisomal alpha-, beta- and omega-oxidation' SubClassOf 'Peroxisomal disease' 'Disorder of peroxisomal alpha-, beta- and omega-oxidation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_309813 Disorder of porphyrin and haem metabolism 'Disorder of porphyrin and haem metabolism' SubClassOf 'porphyrin metabolism disease' 'Disorder of porphyrin and haem metabolism' SubClassOf 'Inborn errors of metabolism' 'Disorder of porphyrin and haem metabolism' SubClassOf 'Inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_309827 Disorder of vitamin and non-protein cofactor absorption and transport  'Disorder of vitamin and non-protein cofactor absorption and transport ' SubClassOf 'Disorder of metabolite absorption and transport' 'Disorder of vitamin and non-protein cofactor absorption and transport ' SubClassOf 'Disorder of metabolite absorption and transport' http://www.orpha.net/ORDO/Orphanet_309824 Disorder of metabolite absorption and transport 'Disorder of metabolite absorption and transport' SubClassOf 'Inborn errors of metabolism' 'Disorder of metabolite absorption and transport' SubClassOf 'Inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_285657 Disorder of folate metabolism and transport 'Disorder of folate metabolism and transport' SubClassOf 'Disorder of vitamin and non-protein cofactor absorption and transport ' 'Disorder of folate metabolism and transport' SubClassOf 'Disorder of vitamin and non-protein cofactor absorption and transport ' http://purl.obolibrary.org/obo/MONDO_0000421 inborn serine deficiency 'inborn serine deficiency' SubClassOf 'Disorder of serine or glycine metabolism' 'inborn serine deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019239 http://www.orpha.net/ORDO/Orphanet_3307 Tetrasomy 18p 'Tetrasomy 18p' SubClassOf 'Partial trisomy/tetrasomy of the short arm of chromosome 18' 'Tetrasomy 18p' SubClassOf 'Partial trisomy/tetrasomy of the short arm of chromosome 18' http://www.orpha.net/ORDO/Orphanet_3306 Duplication/inversion 15q11 'Duplication/inversion 15q11' SubClassOf 'Complex chromosomal rearrangement' 'Duplication/inversion 15q11' SubClassOf 'epilepsy' 'Duplication/inversion 15q11' SubClassOf 'Complex chromosomal rearrangement' http://www.orpha.net/ORDO/Orphanet_3305 Tetraploidy 'Tetraploidy' SubClassOf 'Polyploidy' 'Tetraploidy' SubClassOf 'Polyploidy' http://www.orpha.net/ORDO/Orphanet_3304 Fallot complex - intellectual disability - growth delay 'Fallot complex - intellectual disability - growth delay' SubClassOf 'congenital nervous system disorder' 'Fallot complex - intellectual disability - growth delay' SubClassOf 'syndromic intellectual disability' 'Fallot complex - intellectual disability - growth delay' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Fallot complex - intellectual disability - growth delay' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_3301 Tetraamelia - multiple malformations 'Tetraamelia - multiple malformations' SubClassOf 'congenital limb malformation' 'Tetraamelia - multiple malformations' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Tetraamelia - multiple malformations' SubClassOf 'Dysostosis of genetic origin' 'Tetraamelia - multiple malformations' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0000430 mature T-cell and NK-cell non-Hodgkin lymphoma 'mature T-cell and NK-cell non-Hodgkin lymphoma' SubClassOf 'T-cell non-Hodgkin lymphoma' 'mature T-cell and NK-cell non-Hodgkin lymphoma' SubClassOf 'T-cell non-Hodgkin lymphoma' http://www.orpha.net/ORDO/Orphanet_3310 Tetrasomy 9p 'Tetrasomy 9p' SubClassOf 'Partial trisomy of the short arm of chromosome 9' 'Tetrasomy 9p' SubClassOf 'Partial trisomy of the short arm of chromosome 9' http://www.orpha.net/ORDO/Orphanet_3319 Congenital amegakaryocytic thrombocytopenia 'Congenital amegakaryocytic thrombocytopenia' SubClassOf 'isolated constitutional thrombocytopenia' 'Congenital amegakaryocytic thrombocytopenia' SubClassOf 'inherited aplastic anemia' 'Congenital amegakaryocytic thrombocytopenia' SubClassOf 'congenital anemia' 'Congenital amegakaryocytic thrombocytopenia' SubClassOf 'inherited aplastic anemia' http://www.orpha.net/ORDO/Orphanet_3317 Thoracolaryngopelvic dysplasia 'Thoracolaryngopelvic dysplasia' SubClassOf 'Genetic respiratory malformation' 'Thoracolaryngopelvic dysplasia' SubClassOf 'thoracic malformation' 'Thoracolaryngopelvic dysplasia' SubClassOf 'Short rib dysplasia' 'Thoracolaryngopelvic dysplasia' SubClassOf 'Genetic respiratory malformation' 'Thoracolaryngopelvic dysplasia' SubClassOf 'Short rib dysplasia' http://www.orpha.net/ORDO/Orphanet_3316 Thomas syndrome 'Thomas syndrome' SubClassOf 'Rare syndrome with cardiac malformations' 'Thomas syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Thomas syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Thomas syndrome' SubClassOf 'Orofacial clefting syndrome' 'Thomas syndrome' SubClassOf 'heart disease' 'Thomas syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3315 Thiopurine S-methyltransferase deficiency 'Thiopurine S-methyltransferase deficiency' SubClassOf 'thiopurine metabolic disease' http://www.orpha.net/ORDO/Orphanet_3314 Thiemann disease, familial form 'Thiemann disease, familial form' SubClassOf 'Osteochondrosis of genetic origin' 'Thiemann disease, familial form' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_199296 Congenital isolated ACTH deficiency 'Congenital isolated ACTH deficiency' SubClassOf 'Non-acquired pituitary hormone deficiency' 'Congenital isolated ACTH deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3309 Tetrasomy 5p 'Tetrasomy 5p' SubClassOf 'Partial trisomy/tetrasomy of the short arm of chromosome 5' http://www.orpha.net/ORDO/Orphanet_309803 Rhizomelic chondrodysplasia punctata type 3 'Rhizomelic chondrodysplasia punctata type 3' SubClassOf 'Rhizomelic chondrodysplasia punctata' 'Rhizomelic chondrodysplasia punctata type 3' SubClassOf 'alkylglycerone-phosphate synthase deficiency' 'Rhizomelic chondrodysplasia punctata type 3' SubClassOf 'Rhizomelic chondrodysplasia punctata' http://www.orpha.net/ORDO/Orphanet_261629 Alagille syndrome due to a NOTCH2 point mutation 'Alagille syndrome due to a NOTCH2 point mutation' SubClassOf 'Alagille syndrome' 'Alagille syndrome due to a NOTCH2 point mutation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_199282 Harlequin syndrome 'Harlequin syndrome' SubClassOf 'autonomic nervous system disease' 'Harlequin syndrome' SubClassOf 'has modifier' some 'rare' 'Harlequin syndrome' SubClassOf 'autonomic nervous system disease' 'Harlequin syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.orpha.net/ORDO/Orphanet_199285 Hereditary hypercarotenemia and vitamin A deficiency 'Hereditary hypercarotenemia and vitamin A deficiency' SubClassOf 'Disorder of other vitamins and cofactors metabolism and transport' 'Hereditary hypercarotenemia and vitamin A deficiency' SubClassOf 'Disorder of other vitamins and cofactors metabolism and transport' http://www.orpha.net/ORDO/Orphanet_209047 Qualitative or quantitative defects of filamin C 'Qualitative or quantitative defects of filamin C' SubClassOf 'Qualitative or quantitative defects of myofibrillar proteins' 'Qualitative or quantitative defects of filamin C' SubClassOf 'Qualitative or quantitative defects of myofibrillar proteins' http://www.orpha.net/ORDO/Orphanet_209044 Qualitative or quantitative defects of alphaB-cristallin 'Qualitative or quantitative defects of alphaB-cristallin' SubClassOf 'Qualitative or quantitative defects of myofibrillar proteins' 'Qualitative or quantitative defects of alphaB-cristallin' SubClassOf 'Qualitative or quantitative defects of myofibrillar proteins' http://www.orpha.net/ORDO/Orphanet_209041 Qualitative or quantitative defects of desmin 'Qualitative or quantitative defects of desmin' SubClassOf 'Qualitative or quantitative defects of myofibrillar proteins' 'Qualitative or quantitative defects of desmin' SubClassOf 'Qualitative or quantitative defects of myofibrillar proteins' http://purl.obolibrary.org/obo/MONDO_0000456 cerebral creatine deficiency syndrome 'cerebral creatine deficiency syndrome' SubClassOf 'Disorder of energy metabolism' 'cerebral creatine deficiency syndrome' SubClassOf 'Cerebral organic aciduria' 'cerebral creatine deficiency syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019243 'cerebral creatine deficiency syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019213 http://www.orpha.net/ORDO/Orphanet_209059 Qualitative or quantitative defects of alpha-actin 'Qualitative or quantitative defects of alpha-actin' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of alpha-actin' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' http://www.orpha.net/ORDO/Orphanet_261619 Alagille syndrome due to a JAG1 point mutation 'Alagille syndrome due to a JAG1 point mutation' SubClassOf 'Alagille syndrome' 'Alagille syndrome due to a JAG1 point mutation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0012431 diaphragmatic hernia 3 'diaphragmatic hernia 3' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_209050 Qualitative or quantitative defects of protein ZASP 'Qualitative or quantitative defects of protein ZASP' SubClassOf 'Qualitative or quantitative defects of myofibrillar proteins' 'Qualitative or quantitative defects of protein ZASP' SubClassOf 'Qualitative or quantitative defects of myofibrillar proteins' http://www.orpha.net/ORDO/Orphanet_199276 Familial multiple lipomatosis 'Familial multiple lipomatosis' SubClassOf 'has modifier' some 'rare' 'Familial multiple lipomatosis' SubClassOf 'hereditary disorder of connective tissue' 'Familial multiple lipomatosis' SubClassOf 'subcutaneous tissue disorder' 'Familial multiple lipomatosis' SubClassOf 'integumentary system benign neoplasm' 'Familial multiple lipomatosis' SubClassOf 'Genetic soft tissue tumor' 'Familial multiple lipomatosis' SubClassOf 'lipoma' http://www.orpha.net/ORDO/Orphanet_199279 Familial angiolipomatosis 'Familial angiolipomatosis' SubClassOf 'has modifier' some 'rare' 'Familial angiolipomatosis' SubClassOf 'subcutaneous tissue disorder' http://www.orpha.net/ORDO/Orphanet_209056 Qualitative or quantitative defects of telethonin 'Qualitative or quantitative defects of telethonin' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of telethonin' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' http://www.orpha.net/ORDO/Orphanet_209053 Qualitative or quantitative defects of titin 'Qualitative or quantitative defects of titin' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of titin' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 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 http://purl.obolibrary.org/obo/MONDO_0015110 http://www.orpha.net/ORDO/Orphanet_261600 Alagille syndrome due to 20p12 microdeletion 'Alagille syndrome due to 20p12 microdeletion' SubClassOf 'Partial monosomy of the short arm of chromosome 20' 'Alagille syndrome due to 20p12 microdeletion' SubClassOf 'Alagille syndrome' 'Alagille syndrome due to 20p12 microdeletion' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_199241 Pulmonary capillary hemangiomatosis 'Pulmonary capillary hemangiomatosis' SubClassOf 'Pulmonary venoocclusive disease' 'Pulmonary capillary hemangiomatosis' SubClassOf 'Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis' http://www.orpha.net/ORDO/Orphanet_199247 Corticosteroid-binding globulin deficiency 'Corticosteroid-binding globulin deficiency' SubClassOf 'adrenal gland disease' 'Corticosteroid-binding globulin deficiency' SubClassOf 'has modifier' some 'rare' http://www.ebi.ac.uk/efo/EFO_0009812 secondary malignant neoplasm 'secondary malignant neoplasm' SubClassOf 'cancer' 'secondary malignant neoplasm' SubClassOf 'cancer' http://purl.obolibrary.org/obo/MONDO_0024475 squamous cell intraepithelial neoplasia 'squamous cell intraepithelial neoplasia' SubClassOf 'intraepithelial neoplasia' 'squamous cell intraepithelial neoplasia' SubClassOf 'intraepithelial neoplasia' http://purl.obolibrary.org/obo/MONDO_0024474 intraepithelial neoplasia 'intraepithelial neoplasia' SubClassOf 'epithelial neoplasm' 'intraepithelial neoplasia' SubClassOf 'epithelial neoplasm' http://www.orpha.net/ORDO/Orphanet_261647 Okihiro syndrome due to a point mutation 'Okihiro syndrome due to a point mutation' SubClassOf 'Okihiro syndrome' 'Okihiro syndrome due to a point mutation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_261652 Kleefstra syndrome due to a point mutation 'Kleefstra syndrome due to a point mutation' SubClassOf 'Kleefstra syndrome' 'Kleefstra syndrome due to a point mutation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0024464 pituitary hormone deficiency, combined, 1 'pituitary hormone deficiency, combined, 1' SubClassOf 'Combined pituitary hormone deficiencies, genetic forms' 'pituitary hormone deficiency, combined, 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0013099 http://www.orpha.net/ORDO/Orphanet_261638 Okihiro syndrome due to 20q13 microdeletion 'Okihiro syndrome due to 20q13 microdeletion' SubClassOf 'Partial deletion of the long arm of chromosome 20' 'Okihiro syndrome due to 20q13 microdeletion' SubClassOf 'Okihiro syndrome' 'Okihiro syndrome due to 20q13 microdeletion' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0009731 polyarticular juvenile idiopathic arthritis, rheumatoid factor positive 'polyarticular juvenile idiopathic arthritis, rheumatoid factor positive' SubClassOf 'polyarticular juvenile idiopathic arthritis' 'polyarticular juvenile idiopathic arthritis, rheumatoid factor positive' SubClassOf 'polyarticular juvenile idiopathic arthritis' http://purl.obolibrary.org/obo/MONDO_0024247 benign eccrine neoplasm 'benign eccrine neoplasm' SubClassOf 'benign neoplasm of sweat gland' 'benign eccrine neoplasm' SubClassOf 'eccrine sweat gland neoplasm' 'benign eccrine neoplasm' SubClassOf 'benign neoplasm of sweat gland' 'benign eccrine neoplasm' SubClassOf 'eccrine sweat gland neoplasm' http://purl.obolibrary.org/obo/MONDO_0012274 acromesomelic dysplasia 3 'acromesomelic dysplasia 3' SubClassOf 'Acromesomelic dysplasia' 'acromesomelic dysplasia 3' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019696 http://purl.obolibrary.org/obo/MONDO_0024276 glandular cell neoplasm 'glandular cell neoplasm' SubClassOf 'epithelial neoplasm' 'glandular cell neoplasm' SubClassOf 'epithelial neoplasm' http://purl.obolibrary.org/obo/MONDO_0012282 Al-Gazali syndrome 'Al-Gazali syndrome' SubClassOf 'Syndromic cataract' 'Al-Gazali syndrome' SubClassOf 'Dysostosis of genetic origin' 'Al-Gazali syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018454 'Al-Gazali syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020225 http://purl.obolibrary.org/obo/MONDO_0024263 neonatal aspiration syndrome 'neonatal aspiration syndrome' SubClassOf 'syndromic disease' 'neonatal aspiration syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0007129 acute chest syndrome 'acute chest syndrome' SubClassOf 'disease arises from feature' some 'Sickle cell anemia' 'acute chest syndrome' SubClassOf 'syndromic disease' 'acute chest syndrome' SubClassOf 'disease arises from feature' some http://purl.obolibrary.org/obo/MONDO_0011382 'acute chest syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0024295 skin disease caused by bacterial infection 'skin disease caused by bacterial infection' SubClassOf 'bacterial disease' 'skin disease caused by bacterial infection' SubClassOf 'bacterial disease' http://purl.obolibrary.org/obo/MONDO_0024280 polyarticular arthritis 'polyarticular arthritis' SubClassOf 'arthritis' 'polyarticular arthritis' SubClassOf 'arthritis' http://purl.obolibrary.org/obo/MONDO_0024282 mucinous ovarian cancer 'mucinous ovarian cancer' SubClassOf 'Malignant epithelial tumor of ovary' 'mucinous ovarian cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018364 http://www.ebi.ac.uk/efo/EFO_0007143 alveolar soft part sarcoma 'alveolar soft part sarcoma' SubClassOf 'soft tissue sarcoma' 'alveolar soft part sarcoma' SubClassOf 'soft tissue sarcoma' http://www.orpha.net/ORDO/Orphanet_36355 P2Y12 defect 'P2Y12 defect' SubClassOf 'inherited bleeding disorder, platelet-type' 'P2Y12 defect' SubClassOf 'Rare genetic coagulation disorder' http://www.ebi.ac.uk/efo/EFO_0007147 anogenital venereal wart 'anogenital venereal wart' SubClassOf 'human papilloma virus infection' 'anogenital venereal wart' SubClassOf 'human papilloma virus infection' http://www.orpha.net/ORDO/Orphanet_209027 Qualitative or quantitative defects of protein glycosyltransferase-like 'Qualitative or quantitative defects of protein glycosyltransferase-like' SubClassOf 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' 'Qualitative or quantitative defects of protein glycosyltransferase-like' SubClassOf 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' http://www.orpha.net/ORDO/Orphanet_209024 Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase 'Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase' SubClassOf 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' 'Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase' SubClassOf 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' http://www.orpha.net/ORDO/Orphanet_209038 Qualitative or quantitative defects of myofibrillar proteins 'Qualitative or quantitative defects of myofibrillar proteins' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of myofibrillar proteins' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' http://www.orpha.net/ORDO/Orphanet_209033 Qualitative or quantitative defects of protein O-mannosyltransferase 2 'Qualitative or quantitative defects of protein O-mannosyltransferase 2' SubClassOf 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' 'Qualitative or quantitative defects of protein O-mannosyltransferase 2' SubClassOf 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' http://www.ebi.ac.uk/efo/EFO_0007140 allergic bronchopulmonary aspergillosis 'allergic bronchopulmonary aspergillosis' SubClassOf 'aspergillosis' 'allergic bronchopulmonary aspergillosis' SubClassOf 'aspergillosis' http://www.orpha.net/ORDO/Orphanet_209030 Qualitative or quantitative defects of protein O-mannosyltransferase 1 'Qualitative or quantitative defects of protein O-mannosyltransferase 1' SubClassOf 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' 'Qualitative or quantitative defects of protein O-mannosyltransferase 1' SubClassOf 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' http://www.orpha.net/ORDO/Orphanet_3168 Sillence syndrome 'Sillence syndrome' SubClassOf 'syndromic disease' 'Sillence syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Sillence syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0007165 Barre-Lieou syndrome 'Barre-Lieou syndrome' SubClassOf 'syndromic disease' 'Barre-Lieou syndrome' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_3167 Siegler-Brewer-Carey syndrome 'Siegler-Brewer-Carey syndrome' SubClassOf 'has modifier' some 'rare' 'Siegler-Brewer-Carey syndrome' SubClassOf 'Rare genetic respiratory disease' 'Siegler-Brewer-Carey syndrome' SubClassOf 'respiratory system disease' 'Siegler-Brewer-Carey syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3166 Sialuria 'Sialuria' SubClassOf 'Free sialic acid storage disease' 'Sialuria' SubClassOf 'Disorder of sialic acid metabolism' 'Sialuria' SubClassOf 'Disorder of sialic acid metabolism' http://www.orpha.net/ORDO/Orphanet_3164 Omphalocele syndrome, Shprintzen-Goldberg type 'Omphalocele syndrome, Shprintzen-Goldberg type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Omphalocele syndrome, Shprintzen-Goldberg type' SubClassOf 'congenital nervous system disorder' 'Omphalocele syndrome, Shprintzen-Goldberg type' SubClassOf 'syndromic intellectual disability' 'Omphalocele syndrome, Shprintzen-Goldberg type' SubClassOf 'syndromic diaphragmatic or abdominal wall malformation' 'Omphalocele syndrome, Shprintzen-Goldberg type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.ebi.ac.uk/efo/EFO_0007169 biliary dyskinesia 'biliary dyskinesia' SubClassOf 'Genetic biliary tract disease' 'biliary dyskinesia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015509 http://www.orpha.net/ORDO/Orphanet_3163 SHORT syndrome 'SHORT syndrome' SubClassOf 'Genetic progeroid syndrome' 'SHORT syndrome' SubClassOf 'Rare insulin-resistance syndrome' 'SHORT syndrome' SubClassOf 'Syndromic hyperopia' 'SHORT syndrome' SubClassOf 'Developmental anomaly of metabolic origin' 'SHORT syndrome' SubClassOf 'Rare disease with glaucoma as a major feature' 'SHORT syndrome' SubClassOf 'diabetes mellitus' 'SHORT syndrome' SubClassOf 'progeroid syndrome' 'SHORT syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'SHORT syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' 'SHORT syndrome' SubClassOf 'Genetic lipodystrophy' 'SHORT syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'SHORT syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'SHORT syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'SHORT syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0007168 berylliosis 'berylliosis' SubClassOf 'pneumoconiosis' 'berylliosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015926 http://www.ebi.ac.uk/efo/EFO_0007167 Bell's palsy 'Bell's palsy' SubClassOf 'facial nerve disease' 'Bell's palsy' SubClassOf 'facial nerve disease' http://www.orpha.net/ORDO/Orphanet_99945 Autosomal dominant Charcot-Marie-Tooth disease type 2L 'Autosomal dominant Charcot-Marie-Tooth disease type 2L' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'Autosomal dominant Charcot-Marie-Tooth disease type 2L' SubClassOf 'Autosomal dominant Charcot-Marie-Tooth disease type 2' 'Autosomal dominant Charcot-Marie-Tooth disease type 2L' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://www.orpha.net/ORDO/Orphanet_99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K 'Autosomal dominant Charcot-Marie-Tooth disease type 2K' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'Autosomal dominant Charcot-Marie-Tooth disease type 2K' SubClassOf 'Autosomal dominant Charcot-Marie-Tooth disease type 2' 'Autosomal dominant Charcot-Marie-Tooth disease type 2K' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://www.orpha.net/ORDO/Orphanet_99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 'Autosomal dominant Charcot-Marie-Tooth disease type 2A2' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'Autosomal dominant Charcot-Marie-Tooth disease type 2A2' SubClassOf 'Autosomal dominant Charcot-Marie-Tooth disease type 2' 'Autosomal dominant Charcot-Marie-Tooth disease type 2A2' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://www.orpha.net/ORDO/Orphanet_99946 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 'Autosomal dominant Charcot-Marie-Tooth disease type 2A1' SubClassOf 'Autosomal dominant Charcot-Marie-Tooth disease type 2' 'Autosomal dominant Charcot-Marie-Tooth disease type 2A1' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'Autosomal dominant Charcot-Marie-Tooth disease type 2A1' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://www.orpha.net/ORDO/Orphanet_99949 Charcot-Marie-Tooth disease type 4C 'Charcot-Marie-Tooth disease type 4C' SubClassOf 'Charcot-Marie-Tooth disease type 4' 'Charcot-Marie-Tooth disease type 4C' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99948 Charcot-Marie-Tooth disease type 4A 'Charcot-Marie-Tooth disease type 4A' SubClassOf 'Charcot-Marie-Tooth disease type 4' 'Charcot-Marie-Tooth disease type 4A' SubClassOf 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type A' 'Charcot-Marie-Tooth disease type 4A' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3169 Sirenomelia 'Sirenomelia' SubClassOf 'Familial caudal dysgenesis' 'Sirenomelia' SubClassOf 'Syndromic anorectal malformation' http://www.orpha.net/ORDO/Orphanet_99950 Charcot-Marie-Tooth disease type 4D 'Charcot-Marie-Tooth disease type 4D' SubClassOf 'Charcot-Marie-Tooth disease type 4' 'Charcot-Marie-Tooth disease type 4D' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99952 Charcot-Marie-Tooth disease type 4F 'Charcot-Marie-Tooth disease type 4F' SubClassOf 'Charcot-Marie-Tooth disease type 4' 'Charcot-Marie-Tooth disease type 4F' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99951 Charcot-Marie-Tooth disease type 4E 'Charcot-Marie-Tooth disease type 4E' SubClassOf 'neuropathy, congenital hypomelinating' 'Charcot-Marie-Tooth disease type 4E' SubClassOf 'Charcot-Marie-Tooth disease type 4' 'Charcot-Marie-Tooth disease type 4E' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99954 Charcot-Marie-Tooth disease type 4H 'Charcot-Marie-Tooth disease type 4H' SubClassOf 'Charcot-Marie-Tooth disease type 4' 'Charcot-Marie-Tooth disease type 4H' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99953 Charcot-Marie-Tooth disease type 4G 'Charcot-Marie-Tooth disease type 4G' SubClassOf 'motor peripheral neuropathy' 'Charcot-Marie-Tooth disease type 4G' SubClassOf 'Charcot-Marie-Tooth disease type 4' 'Charcot-Marie-Tooth disease type 4G' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0007171 black piedra 'black piedra' SubClassOf 'piedra' 'black piedra' SubClassOf 'piedra' http://www.ebi.ac.uk/efo/EFO_0007170 bird fancier's lung 'bird fancier's lung' SubClassOf 'extrinsic allergic alveolitis' 'bird fancier's lung' SubClassOf 'extrinsic allergic alveolitis' http://www.ebi.ac.uk/efo/EFO_0007153 asbestosis 'asbestosis' SubClassOf 'pneumoconiosis' 'asbestosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015926 http://www.orpha.net/ORDO/Orphanet_3177 Corneal-cerebellar syndrome 'Corneal-cerebellar syndrome' SubClassOf 'Syndromic corneal dystrophy' 'Corneal-cerebellar syndrome' SubClassOf 'Genetic neurodegenerative disease' 'Corneal-cerebellar syndrome' SubClassOf 'eye degenerative disorder' 'Corneal-cerebellar syndrome' SubClassOf 'Syndromic corneal dystrophy' http://www.orpha.net/ORDO/Orphanet_3176 Spina bifida - hypospadias 'Spina bifida - hypospadias' SubClassOf 'Syndromic urogenital tract malformation' 'Spina bifida - hypospadias' SubClassOf 'Syndromic urogenital tract malformation' http://www.orpha.net/ORDO/Orphanet_3175 Spasticity - intellectual disability - X-linked epilepsy 'Spasticity - intellectual disability - X-linked epilepsy' SubClassOf 'X-linked syndromic intellectual disability' 'Spasticity - intellectual disability - X-linked epilepsy' SubClassOf 'ARX-related epileptic encephalopathy' 'Spasticity - intellectual disability - X-linked epilepsy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 'Spasticity - intellectual disability - X-linked epilepsy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015921 http://www.orpha.net/ORDO/Orphanet_3173 Infantile spasms - broad thumbs 'Infantile spasms - broad thumbs' SubClassOf 'Infantile epilepsy syndrome' 'Infantile spasms - broad thumbs' SubClassOf 'Epilepsy syndrome' http://www.orpha.net/ORDO/Orphanet_3172 Eyebrow duplication - syndactyly 'Eyebrow duplication - syndactyly' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_99956 Charcot-Marie-Tooth disease type 4B2 'Charcot-Marie-Tooth disease type 4B2' SubClassOf 'Charcot-Marie-Tooth disease type 4' 'Charcot-Marie-Tooth disease type 4B2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99955 Charcot-Marie-Tooth disease type 4B1 'Charcot-Marie-Tooth disease type 4B1' SubClassOf 'Charcot-Marie-Tooth disease type 4' 'Charcot-Marie-Tooth disease type 4B1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_36367 Distal monosomy 1q 'Distal monosomy 1q' SubClassOf 'Rare genetic neurological disorder' 'Distal monosomy 1q' SubClassOf 'Partial deletion of the long arm of chromosome 1' 'Distal monosomy 1q' SubClassOf 'syndromic intellectual disability' 'Distal monosomy 1q' SubClassOf 'Partial deletion of the long arm of chromosome 1' http://www.orpha.net/ORDO/Orphanet_99961 Benign recurrent intrahepatic cholestasis type 2 'Benign recurrent intrahepatic cholestasis type 2' SubClassOf 'Benign recurrent intrahepatic cholestasis' 'Benign recurrent intrahepatic cholestasis type 2' SubClassOf 'Benign recurrent intrahepatic cholestasis' http://www.orpha.net/ORDO/Orphanet_99960 Benign recurrent intrahepatic cholestasis type 1 'Benign recurrent intrahepatic cholestasis type 1' SubClassOf 'Progressive familial intrahepatic cholestasis' 'Benign recurrent intrahepatic cholestasis type 1' SubClassOf 'Benign recurrent intrahepatic cholestasis' 'Benign recurrent intrahepatic cholestasis type 1' SubClassOf 'Benign recurrent intrahepatic cholestasis' http://www.ebi.ac.uk/efo/EFO_0007160 autoimmune thrombocytopenic purpura 'autoimmune thrombocytopenic purpura' SubClassOf 'thrombocytopenic purpura' 'autoimmune thrombocytopenic purpura' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021181 'autoimmune thrombocytopenic purpura' SubClassOf 'thrombocytopenic purpura' http://www.orpha.net/ORDO/Orphanet_3186 Holoprosencephaly - radial heart renal anomalies 'Holoprosencephaly - radial heart renal anomalies' SubClassOf 'Syndromic urogenital tract malformation' 'Holoprosencephaly - radial heart renal anomalies' SubClassOf 'Syndromic renal or urinary tract malformation' 'Holoprosencephaly - radial heart renal anomalies' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Holoprosencephaly - radial heart renal anomalies' SubClassOf 'congenital nervous system disorder' 'Holoprosencephaly - radial heart renal anomalies' SubClassOf 'syndromic intellectual disability' 'Holoprosencephaly - radial heart renal anomalies' SubClassOf 'Syndromic renal or urinary tract malformation' 'Holoprosencephaly - radial heart renal anomalies' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_3184 Steatocystoma multiplex - natal teeth 'Steatocystoma multiplex - natal teeth' SubClassOf 'disorder of development or morphogenesis' 'Steatocystoma multiplex - natal teeth' SubClassOf 'Genetic sebaceous gland anomaly' 'Steatocystoma multiplex - natal teeth' SubClassOf 'Genetic sebaceous gland anomaly' http://www.orpha.net/ORDO/Orphanet_371861 Genetic hyperaldosteronism 'Genetic hyperaldosteronism' SubClassOf 'Rare genetic adrenal disease' 'Genetic hyperaldosteronism' SubClassOf 'primary aldosteronism' 'Genetic hyperaldosteronism' SubClassOf 'hyperaldosteronism' 'Genetic hyperaldosteronism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3180 Spondylocamptodactyly syndrome 'Spondylocamptodactyly syndrome' SubClassOf 'Spondylodysplastic dysplasia' 'Spondylocamptodactyly syndrome' SubClassOf 'Spondylodysplastic dysplasia' http://www.ebi.ac.uk/efo/EFO_0007192 Caplan's syndrome 'Caplan's syndrome' SubClassOf 'pneumoconiosis' 'Caplan's syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015926 http://www.orpha.net/ORDO/Orphanet_36383 Familial vascular leukoencephalopathy 'Familial vascular leukoencephalopathy' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'Familial vascular leukoencephalopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3199 Stimmler syndrome 'Stimmler syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Stimmler syndrome' SubClassOf 'congenital nervous system disorder' 'Stimmler syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Stimmler syndrome' SubClassOf 'syndromic intellectual disability' 'Stimmler syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_36382 Familial cervical artery dissections 'Familial cervical artery dissections' SubClassOf 'cervical artery dissection' 'Familial cervical artery dissections' EquivalentTo 'cervical artery dissection' and ('has modifier' some 'inherited') 'Familial cervical artery dissections' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'Familial cervical artery dissections' SubClassOf 'Genetic central nervous system and retinal vascular disease' http://www.orpha.net/ORDO/Orphanet_3197 Hereditary hyperekplexia 'Hereditary hyperekplexia' SubClassOf 'Neurometabolic disease' 'Hereditary hyperekplexia' SubClassOf 'Metabolic disease involving other neurotransmitter deficiency' 'Hereditary hyperekplexia' EquivalentTo 'hyperekplexia' and ('has modifier' some 'inherited') 'Hereditary hyperekplexia' SubClassOf 'hyperekplexia' 'Hereditary hyperekplexia' SubClassOf 'Neurometabolic disease' 'Hereditary hyperekplexia' SubClassOf 'Metabolic disease involving other neurotransmitter deficiency' http://www.orpha.net/ORDO/Orphanet_3196 Steroid dehydrogenase deficiency - dental anomalies 'Steroid dehydrogenase deficiency - dental anomalies' SubClassOf 'disorder of development or morphogenesis' 'Steroid dehydrogenase deficiency - dental anomalies' SubClassOf 'metabolic disease' 'Steroid dehydrogenase deficiency - dental anomalies' SubClassOf 'has modifier' some 'rare' 'Steroid dehydrogenase deficiency - dental anomalies' SubClassOf 'Inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_36387 Generalized epilepsy with febrile seizures-plus 'Generalized epilepsy with febrile seizures-plus' SubClassOf 'epilepsy' http://www.orpha.net/ORDO/Orphanet_36386 Hereditary sensory and autonomic neuropathy type 1 'Hereditary sensory and autonomic neuropathy type 1' SubClassOf 'Autosomal dominant hereditary sensory and autonomic neuropathy' 'Hereditary sensory and autonomic neuropathy type 1' SubClassOf 'Autosomal dominant hereditary sensory and autonomic neuropathy' http://www.orpha.net/ORDO/Orphanet_3194 Stern-Lubinsky-Durrie syndrome 'Stern-Lubinsky-Durrie syndrome' SubClassOf 'Syndromic corneal dystrophy' 'Stern-Lubinsky-Durrie syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Stern-Lubinsky-Durrie syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_165707 Syndromic urogenital tract malformation 'Syndromic urogenital tract malformation' SubClassOf 'Genetic urogenital tract malformation' 'Syndromic urogenital tract malformation' EquivalentTo 'Genetic urogenital tract malformation' and ('has modifier' some 'has a syndromic presentation') 'Syndromic urogenital tract malformation' SubClassOf 'syndromic disease' 'Syndromic urogenital tract malformation' SubClassOf 'disease of genitourinary system' 'Syndromic urogenital tract malformation' SubClassOf 'Genetic urogenital tract malformation' http://www.orpha.net/ORDO/Orphanet_3193 Supravalvular aortic stenosis 'Supravalvular aortic stenosis' SubClassOf 'aortic stenosis' 'Supravalvular aortic stenosis' SubClassOf 'Genetic cardiac anomaly' 'Supravalvular aortic stenosis' SubClassOf 'aortic malformation' 'Supravalvular aortic stenosis' SubClassOf 'Genetic cardiac anomaly' http://www.orpha.net/ORDO/Orphanet_3191 Subaortic stenosis - short stature 'Subaortic stenosis - short stature' SubClassOf 'Syndromic corneal dystrophy' 'Subaortic stenosis - short stature' SubClassOf 'Syndromic corneal dystrophy' http://www.ebi.ac.uk/efo/EFO_0007182 Brill-Zinsser disease 'Brill-Zinsser disease' SubClassOf 'epidemic louse-borne typhus' 'Brill-Zinsser disease' SubClassOf 'epidemic louse-borne typhus' http://www.orpha.net/ORDO/Orphanet_3124 Saccharopinuria 'Saccharopinuria' SubClassOf 'Disorder of lysine and hydroxylysine metabolism' 'Saccharopinuria' SubClassOf 'Disorder of lysine and hydroxylysine metabolism' http://www.orpha.net/ORDO/Orphanet_3121 Ruvalcaba syndrome 'Ruvalcaba syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Ruvalcaba syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Ruvalcaba syndrome' SubClassOf 'congenital nervous system disorder' 'Ruvalcaba syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99901 Acyl-CoA dehydrogenase 9 deficiency 'Acyl-CoA dehydrogenase 9 deficiency' SubClassOf 'disorder of fatty acid oxidation and ketogenesis' http://www.orpha.net/ORDO/Orphanet_99900 Long chain acyl-CoA dehydrogenase deficiency 'Long chain acyl-CoA dehydrogenase deficiency' SubClassOf 'familial hypertrophic cardiomyopathy' 'Long chain acyl-CoA dehydrogenase deficiency' SubClassOf 'disorder of fatty acid oxidation and ketogenesis' http://www.orpha.net/ORDO/Orphanet_3129 Sarcosinemia 'Sarcosinemia' SubClassOf 'Disorder of serine or glycine metabolism' 'Sarcosinemia' SubClassOf 'glycine metabolism disease' 'Sarcosinemia' SubClassOf 'Disorder of serine or glycine metabolism' http://www.orpha.net/ORDO/Orphanet_3128 Sakati-Nyhan syndrome 'Sakati-Nyhan syndrome' SubClassOf 'acrocephalopolysyndactyly' 'Sakati-Nyhan syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Sakati-Nyhan syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' 'Sakati-Nyhan syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_85337 X-linked intellectual disability, Zorick type 'X-linked intellectual disability, Zorick type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Zorick type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 http://www.orpha.net/ORDO/Orphanet_85336 X-linked neurodegenerative syndrome, Hamel type 'X-linked neurodegenerative syndrome, Hamel type' SubClassOf 'Genetic neurodegenerative disease' 'X-linked neurodegenerative syndrome, Hamel type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked neurodegenerative syndrome, Hamel type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_85338 X-linked intellectual disability - ataxia - apraxia 'X-linked intellectual disability - ataxia - apraxia' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability - ataxia - apraxia' SubClassOf 'X-linked cerebellar ataxia' 'X-linked intellectual disability - ataxia - apraxia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 'X-linked intellectual disability - ataxia - apraxia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016612 http://www.ebi.ac.uk/efo/EFO_0007199 central nervous system tuberculosis 'central nervous system tuberculosis' SubClassOf 'Tuberculosis' http://www.orpha.net/ORDO/Orphanet_3135 Familial Scheuermann disease 'Familial Scheuermann disease' SubClassOf 'Osteochondrosis of genetic origin' 'Familial Scheuermann disease' SubClassOf 'Osteochondrosis of genetic origin' http://www.orpha.net/ORDO/Orphanet_3134 SCARF syndrome 'SCARF syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'SCARF syndrome' SubClassOf 'congenital nervous system disorder' 'SCARF syndrome' SubClassOf 'inherited cutis laxa' 'SCARF syndrome' SubClassOf 'Syndromic craniosynostosis' 'SCARF syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'SCARF syndrome' SubClassOf 'Cutis laxa' 'SCARF syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3133 Say-Field-Coldwell syndrome 'Say-Field-Coldwell syndrome' SubClassOf 'congenital limb malformation' http://www.orpha.net/ORDO/Orphanet_85331 X-linked intellectual disability - hypogonadism - ichthyosis - obesity - short stature 'X-linked intellectual disability - hypogonadism - ichthyosis - obesity - short stature' SubClassOf 'congenital nervous system disorder' 'X-linked intellectual disability - hypogonadism - ichthyosis - obesity - short stature' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability - hypogonadism - ichthyosis - obesity - short stature' SubClassOf 'X-linked ichthyosis syndrome' 'X-linked intellectual disability - hypogonadism - ichthyosis - obesity - short stature' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability - hypogonadism - ichthyosis - obesity - short stature' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 http://www.ebi.ac.uk/efo/EFO_0007196 Cauda equina syndrome 'Cauda equina syndrome' SubClassOf 'syndromic disease' 'Cauda equina syndrome' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_3132 Say-Barber-Miller syndrome 'Say-Barber-Miller syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Say-Barber-Miller syndrome' SubClassOf 'Other immunodeficiency syndrome with predominantly antibody defects' 'Say-Barber-Miller syndrome' SubClassOf 'syndromic intellectual disability' 'Say-Barber-Miller syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Say-Barber-Miller syndrome' SubClassOf 'congenital nervous system disorder' 'Say-Barber-Miller syndrome' SubClassOf 'Immunodeficiency predominantly affecting antibody production' 'Say-Barber-Miller syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_85330 X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis 'X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis' SubClassOf 'disorder of development or morphogenesis' 'X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 http://www.orpha.net/ORDO/Orphanet_85332 X-linked intellectual disability-retinitis pigmentosa syndrome 'X-linked intellectual disability-retinitis pigmentosa syndrome' SubClassOf 'Partial monosomy of the short arm of chromosome X' 'X-linked intellectual disability-retinitis pigmentosa syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability-retinitis pigmentosa syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_85335 Fried syndrome 'Fried syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Fried syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Fried syndrome' SubClassOf 'congenital nervous system disorder' 'Fried syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 'Fried syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_85334 X-linked neurodegenerative syndrome, Bertini type 'X-linked neurodegenerative syndrome, Bertini type' SubClassOf 'Genetic neurodegenerative disease' 'X-linked neurodegenerative syndrome, Bertini type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked neurodegenerative syndrome, Bertini type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3138 Ulnar-mammary syndrome 'Ulnar-mammary syndrome' SubClassOf 'deficient breast volume or number' 'Ulnar-mammary syndrome' SubClassOf 'Dysostosis of genetic origin' 'Ulnar-mammary syndrome' SubClassOf 'Syndromic anorectal malformation' 'Ulnar-mammary syndrome' SubClassOf 'congenital limb malformation' 'Ulnar-mammary syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Ulnar-mammary syndrome' SubClassOf 'Syndromic anorectal malformation' http://www.orpha.net/ORDO/Orphanet_3137 Alpha-N-acetylgalactosaminidase deficiency 'Alpha-N-acetylgalactosaminidase deficiency' SubClassOf 'Neurometabolic disease' 'Alpha-N-acetylgalactosaminidase deficiency' SubClassOf 'Oligosaccharidosis' 'Alpha-N-acetylgalactosaminidase deficiency' SubClassOf 'Neurometabolic disease' 'Alpha-N-acetylgalactosaminidase deficiency' SubClassOf 'Oligosaccharidosis' http://www.orpha.net/ORDO/Orphanet_85326 X-linked intellectual disability, Stoll type 'X-linked intellectual disability, Stoll type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability, Stoll type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Stoll type' SubClassOf 'congenital nervous system disorder' 'X-linked intellectual disability, Stoll type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_85325 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 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability, Stevenson type' SubClassOf 'congenital nervous system disorder' 'X-linked intellectual disability, Stevenson type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_85328 X-linked intellectual disability, Turner type 'X-linked intellectual disability, Turner type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Turner type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 http://www.orpha.net/ORDO/Orphanet_85327 X-linked intellectual disability - acromegaly - hyperactivity 'X-linked intellectual disability - acromegaly - hyperactivity' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability - acromegaly - hyperactivity' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 http://www.orpha.net/ORDO/Orphanet_85329 X-linked intellectual disability - hypotonia - facial dysmorphism - aggressive behavior 'X-linked intellectual disability - hypotonia - facial dysmorphism - aggressive behavior' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability - hypotonia - facial dysmorphism - aggressive behavior' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability - hypotonia - facial dysmorphism - aggressive behavior' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3145 Nephrogenic diabetes insipidus - intracranial calcification 'Nephrogenic diabetes insipidus - intracranial calcification' SubClassOf 'Genetic renal tubular disease' 'Nephrogenic diabetes insipidus - intracranial calcification' SubClassOf 'syndromic disease' 'Nephrogenic diabetes insipidus - intracranial calcification' SubClassOf 'Genetic renal tubular disease' http://www.orpha.net/ORDO/Orphanet_3144 Schneckenbecken dysplasia 'Schneckenbecken dysplasia' SubClassOf 'Congenital disorder of glycosylation-related bone disorder' 'Schneckenbecken dysplasia' SubClassOf 'Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis' 'Schneckenbecken dysplasia' SubClassOf 'osteochondrodysplasia' 'Schneckenbecken dysplasia' SubClassOf 'Spondylodysplastic dysplasia' 'Schneckenbecken dysplasia' SubClassOf 'Congenital disorder of glycosylation-related bone disorder' 'Schneckenbecken dysplasia' SubClassOf 'Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis' 'Schneckenbecken dysplasia' SubClassOf 'Spondylodysplastic dysplasia' http://www.orpha.net/ORDO/Orphanet_85320 X-linked intellectual disability - macrocephaly - macroorchidism 'X-linked intellectual disability - macrocephaly - macroorchidism' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability - macrocephaly - macroorchidism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 http://www.orpha.net/ORDO/Orphanet_85322 X-linked intellectual disability, Pai type 'X-linked intellectual disability, Pai type' SubClassOf 'congenital nervous system disorder' 'X-linked intellectual disability, Pai type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Pai type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability, Pai type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_85321 Deafness - intellectual disability, Martin-Probst type 'Deafness - intellectual disability, Martin-Probst type' SubClassOf 'X-linked deafness' 'Deafness - intellectual disability, Martin-Probst type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Deafness - intellectual disability, Martin-Probst type' SubClassOf 'Syndromic genetic deafness' 'Deafness - intellectual disability, Martin-Probst type' SubClassOf 'congenital nervous system disorder' 'Deafness - intellectual disability, Martin-Probst type' SubClassOf 'X-linked syndromic intellectual disability' 'Deafness - intellectual disability, Martin-Probst type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Deafness - intellectual disability, Martin-Probst type' SubClassOf 'Syndromic genetic deafness' 'Deafness - intellectual disability, Martin-Probst type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 http://www.orpha.net/ORDO/Orphanet_85324 X-linked intellectual disability, Shrimpton type 'X-linked intellectual disability, Shrimpton type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Shrimpton type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 http://www.orpha.net/ORDO/Orphanet_85323 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 http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_85317 X-linked intellectual disability - hypogammaglobulinemia - progressive neurological deterioration 'X-linked intellectual disability - hypogammaglobulinemia - progressive neurological deterioration' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability - hypogammaglobulinemia - progressive neurological deterioration' SubClassOf 'congenital nervous system disorder' 'X-linked intellectual disability - hypogammaglobulinemia - progressive neurological deterioration' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability - hypogammaglobulinemia - progressive neurological deterioration' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability - hypogammaglobulinemia - progressive neurological deterioration' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 http://www.orpha.net/ORDO/Orphanet_85319 X-linked intellectual disability - epilepsy - progressive joint contractures - dysmorphism 'X-linked intellectual disability - epilepsy - progressive joint contractures - dysmorphism' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability - epilepsy - progressive joint contractures - dysmorphism' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability - epilepsy - progressive joint contractures - dysmorphism' SubClassOf 'congenital nervous system disorder' 'X-linked intellectual disability - epilepsy - progressive joint contractures - dysmorphism' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability - epilepsy - progressive joint contractures - dysmorphism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 http://www.orpha.net/ORDO/Orphanet_85318 X-linked intellectual disability - precocious puberty - obesity 'X-linked intellectual disability - precocious puberty - obesity' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability - precocious puberty - obesity' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 http://www.orpha.net/ORDO/Orphanet_3157 Septo-optic dysplasia 'Septo-optic dysplasia' SubClassOf 'syndromic disease' 'Septo-optic dysplasia' SubClassOf 'Combined pituitary hormone deficiencies, genetic forms' 'Septo-optic dysplasia' SubClassOf 'Rare eye disease due to a differentiation anomaly' 'Septo-optic dysplasia' SubClassOf 'autosomal genetic disease' 'Septo-optic dysplasia' SubClassOf 'Nervous system anomaly with eye involvement' 'Septo-optic dysplasia' SubClassOf 'Genetic neuro-ophthalmological disease' 'Septo-optic dysplasia' SubClassOf 'syndromic hereditary optic neuropathy' 'Septo-optic dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020145 'Septo-optic dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015368 http://www.orpha.net/ORDO/Orphanet_3156 Senior-Loken syndrome 'Senior-Loken syndrome' SubClassOf 'retinal ciliopathy' 'Senior-Loken syndrome' SubClassOf 'nephropathy-associated ciliopathy' 'Senior-Loken syndrome' SubClassOf 'autosomal recessive disease' 'Senior-Loken syndrome' SubClassOf 'Genetic renal tubular disease' 'Senior-Loken syndrome' SubClassOf 'Genetic vitreous-retinal disease' 'Senior-Loken syndrome' SubClassOf 'has_disease_location' some 'cilium' 'Senior-Loken syndrome' SubClassOf 'Familial cystic renal disease' 'Senior-Loken syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3152 Sclerosteosis 'Sclerosteosis' SubClassOf 'hyperostosis' http://www.orpha.net/ORDO/Orphanet_3151 Multiple sclerosis - ichthyosis - factor VIII deficiency 'Multiple sclerosis - ichthyosis - factor VIII deficiency' SubClassOf 'hemorrhagic disease' 'Multiple sclerosis - ichthyosis - factor VIII deficiency' SubClassOf 'coagulation protein disease' http://www.orpha.net/ORDO/Orphanet_99936 Autosomal dominant Charcot-Marie-Tooth disease type 2B 'Autosomal dominant Charcot-Marie-Tooth disease type 2B' SubClassOf 'Autosomal dominant Charcot-Marie-Tooth disease type 2' 'Autosomal dominant Charcot-Marie-Tooth disease type 2B' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'Autosomal dominant Charcot-Marie-Tooth disease type 2B' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://www.orpha.net/ORDO/Orphanet_99938 Autosomal dominant Charcot-Marie-Tooth disease type 2D 'Autosomal dominant Charcot-Marie-Tooth disease type 2D' SubClassOf 'Autosomal dominant Charcot-Marie-Tooth disease type 2' 'Autosomal dominant Charcot-Marie-Tooth disease type 2D' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'Autosomal dominant Charcot-Marie-Tooth disease type 2D' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://www.orpha.net/ORDO/Orphanet_99937 Autosomal dominant Charcot-Marie-Tooth disease type 2C 'Autosomal dominant Charcot-Marie-Tooth disease type 2C' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'Autosomal dominant Charcot-Marie-Tooth disease type 2C' SubClassOf 'motor peripheral neuropathy' 'Autosomal dominant Charcot-Marie-Tooth disease type 2C' SubClassOf 'Autosomal dominant Charcot-Marie-Tooth disease type 2' 'Autosomal dominant Charcot-Marie-Tooth disease type 2C' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://www.orpha.net/ORDO/Orphanet_99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E 'Autosomal dominant Charcot-Marie-Tooth disease type 2E' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'Autosomal dominant Charcot-Marie-Tooth disease type 2E' SubClassOf 'Autosomal dominant Charcot-Marie-Tooth disease type 2' 'Autosomal dominant Charcot-Marie-Tooth disease type 2E' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://www.orpha.net/ORDO/Orphanet_99941 Autosomal dominant Charcot-Marie-Tooth disease type 2G 'Autosomal dominant Charcot-Marie-Tooth disease type 2G' SubClassOf 'Autosomal dominant Charcot-Marie-Tooth disease type 2' 'Autosomal dominant Charcot-Marie-Tooth disease type 2G' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F 'Autosomal dominant Charcot-Marie-Tooth disease type 2F' SubClassOf 'Autosomal dominant Charcot-Marie-Tooth disease type 2' 'Autosomal dominant Charcot-Marie-Tooth disease type 2F' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'Autosomal dominant Charcot-Marie-Tooth disease type 2F' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://www.orpha.net/ORDO/Orphanet_99943 Autosomal dominant Charcot-Marie-Tooth disease type 2J 'Autosomal dominant Charcot-Marie-Tooth disease type 2J' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'Autosomal dominant Charcot-Marie-Tooth disease type 2J' SubClassOf 'Autosomal dominant Charcot-Marie-Tooth disease type 2' 'Autosomal dominant Charcot-Marie-Tooth disease type 2J' SubClassOf 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type D' 'Autosomal dominant Charcot-Marie-Tooth disease type 2J' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://www.orpha.net/ORDO/Orphanet_99942 Autosomal dominant Charcot-Marie-Tooth disease type 2I 'Autosomal dominant Charcot-Marie-Tooth disease type 2I' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'Autosomal dominant Charcot-Marie-Tooth disease type 2I' SubClassOf 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type D' 'Autosomal dominant Charcot-Marie-Tooth disease type 2I' SubClassOf 'Autosomal dominant Charcot-Marie-Tooth disease type 2' 'Autosomal dominant Charcot-Marie-Tooth disease type 2I' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://www.orpha.net/ORDO/Orphanet_3201 Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence 'Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence' SubClassOf 'Orofacial clefting syndrome' 'Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence' SubClassOf 'Orofacial clefting syndrome' http://www.orpha.net/ORDO/Orphanet_3208 Isolated succinate-CoQ reductase deficiency 'Isolated succinate-CoQ reductase deficiency' SubClassOf 'Isolated oxidative phosphorylation complex disorder' 'Isolated succinate-CoQ reductase deficiency' SubClassOf 'Mitochondrial myopathy' 'Isolated succinate-CoQ reductase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3207 White matter hypoplasia - corpus callosum agenesis - intellectual disability 'White matter hypoplasia - corpus callosum agenesis - intellectual disability' SubClassOf 'has modifier' some 'rare' 'White matter hypoplasia - corpus callosum agenesis - intellectual disability' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_3206 Stüve-Wiedemann syndrome 'Stüve-Wiedemann syndrome' SubClassOf 'Bent bone dysplasia' 'Stüve-Wiedemann syndrome' SubClassOf 'Schwartz-Jampel syndrome' 'Stüve-Wiedemann syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3205 Sturge-Weber syndrome 'Sturge-Weber syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Sturge-Weber syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Sturge-Weber syndrome' SubClassOf 'Cerebral diseases of vascular origin with epilepsy' 'Sturge-Weber syndrome' SubClassOf 'disease has feature' some 'Genetic neurovascular malformation' 'Sturge-Weber syndrome' SubClassOf 'Malformation syndrome with hamartosis' 'Sturge-Weber syndrome' SubClassOf 'Genetic vascular anomaly' 'Sturge-Weber syndrome' SubClassOf 'eye disease' 'Sturge-Weber syndrome' SubClassOf 'Palpebral tumor with a vascular malformation' 'Sturge-Weber syndrome' SubClassOf 'Rare disease with glaucoma as a major feature' 'Sturge-Weber syndrome' SubClassOf 'Overgrowth syndrome' 'Sturge-Weber syndrome' SubClassOf 'Neurocutaneous syndrome with epilepsy' 'Sturge-Weber syndrome' SubClassOf 'neurocutaneous syndrome' 'Sturge-Weber syndrome' SubClassOf 'Conjunctival hemangioma or hemolymphangioma' 'Sturge-Weber syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3204 Stormorken-Sjaastad-Langslet syndrome 'Stormorken-Sjaastad-Langslet syndrome' SubClassOf 'syndromic constitutional thrombocytopenia' http://www.orpha.net/ORDO/Orphanet_3203 Overhydrated hereditary stomatocytosis 'Overhydrated hereditary stomatocytosis' SubClassOf 'Hereditary stomatocytosis' 'Overhydrated hereditary stomatocytosis' SubClassOf 'Hereditary stomatocytosis' http://www.orpha.net/ORDO/Orphanet_3202 Dehydrated hereditary stomatocytosis 'Dehydrated hereditary stomatocytosis' SubClassOf 'Hereditary stomatocytosis' 'Dehydrated hereditary stomatocytosis' SubClassOf 'Hereditary stomatocytosis' http://www.orpha.net/ORDO/Orphanet_3210 Summitt syndrome 'Summitt syndrome' SubClassOf 'Syndromic craniosynostosis' 'Summitt syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_261579 Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion 'Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion' SubClassOf 'Blepharophimosis - epicanthus inversus - ptosis' 'Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3219 Fountain syndrome 'Fountain syndrome' SubClassOf 'syndromic intellectual disability' 'Fountain syndrome' SubClassOf 'congenital nervous system disorder' 'Fountain syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Fountain syndrome' SubClassOf 'Syndromic genetic deafness' 'Fountain syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Fountain syndrome' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_3218 Deafness - epiphyseal dysplasia - short stature 'Deafness - epiphyseal dysplasia - short stature' SubClassOf 'Syndromic genetic deafness' 'Deafness - epiphyseal dysplasia - short stature' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_3217 Deafness - small bowel diverticulosis - neuropathy 'Deafness - small bowel diverticulosis - neuropathy' SubClassOf 'Syndromic genetic deafness' 'Deafness - small bowel diverticulosis - neuropathy' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_3214 Deaf blind hypopigmentation syndrome, Yemenite type 'Deaf blind hypopigmentation syndrome, Yemenite type' SubClassOf 'Genetic hypopigmentation of the skin' 'Deaf blind hypopigmentation syndrome, Yemenite type' SubClassOf 'Syndromic genetic deafness' 'Deaf blind hypopigmentation syndrome, Yemenite type' SubClassOf 'Genetic hypopigmentation of the skin' 'Deaf blind hypopigmentation syndrome, Yemenite type' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_261584 Familial adenomatous polyposis due to 5q22.2 microdeletion 'Familial adenomatous polyposis due to 5q22.2 microdeletion' SubClassOf 'Familial adenomatous polyposis' 'Familial adenomatous polyposis due to 5q22.2 microdeletion' SubClassOf 'Partial deletion of the long arm of chromosome 5' 'Familial adenomatous polyposis due to 5q22.2 microdeletion' SubClassOf 'Familial adenomatous polyposis' http://purl.obolibrary.org/obo/MONDO_0002912 brainstem cancer 'brainstem cancer' SubClassOf 'brain stem neoplasm' 'brainstem cancer' SubClassOf 'brain stem neoplasm' http://purl.obolibrary.org/obo/MONDO_0002914 childhood brain stem neoplasm 'childhood brain stem neoplasm' SubClassOf 'brainstem cancer' 'childhood brain stem neoplasm' SubClassOf 'brainstem cancer' http://www.orpha.net/ORDO/Orphanet_3222 Phosphoribosylpyrophosphate synthetase superactivity 'Phosphoribosylpyrophosphate synthetase superactivity' SubClassOf 'Disorder of purine metabolism' 'Phosphoribosylpyrophosphate synthetase superactivity' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Phosphoribosylpyrophosphate synthetase superactivity' SubClassOf 'Disorder of purine metabolism' 'Phosphoribosylpyrophosphate synthetase superactivity' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' http://www.orpha.net/ORDO/Orphanet_3221 Generalized resistance to thyroid hormone 'Generalized resistance to thyroid hormone' SubClassOf 'Hyperthyroidism' 'Generalized resistance to thyroid hormone' SubClassOf 'thyroid hormone resistance syndrome' 'Generalized resistance to thyroid hormone' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_3220 Deafness - enamel hypoplasia - nail defects 'Deafness - enamel hypoplasia - nail defects' SubClassOf 'Ectodermal dysplasia syndrome' 'Deafness - enamel hypoplasia - nail defects' SubClassOf 'Syndromic genetic deafness' 'Deafness - enamel hypoplasia - nail defects' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Deafness - enamel hypoplasia - nail defects' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3226 Deafness - lymphedema - leukemia 'Deafness - lymphedema - leukemia' SubClassOf 'vascular neoplasm' 'Deafness - lymphedema - leukemia' SubClassOf 'GATA2 deficiency with susceptibility to MDS/AML' 'Deafness - lymphedema - leukemia' SubClassOf 'Syndromic lymphedema' 'Deafness - lymphedema - leukemia' SubClassOf 'neurovascular disorder' 'Deafness - lymphedema - leukemia' SubClassOf 'nervous system neoplasm' 'Deafness - lymphedema - leukemia' SubClassOf 'Syndromic genetic deafness' 'Deafness - lymphedema - leukemia' SubClassOf 'Genetic tumor of hematopoietic and lymphoid tissues' 'Deafness - lymphedema - leukemia' SubClassOf 'Milroy disease' 'Deafness - lymphedema - leukemia' SubClassOf 'Syndromic lymphedema' 'Deafness - lymphedema - leukemia' SubClassOf 'genetic skin disease' 'Deafness - lymphedema - leukemia' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_3225 Hearing loss - familial salivary gland insensitivity to aldosterone 'Hearing loss - familial salivary gland insensitivity to aldosterone' SubClassOf 'Syndromic genetic deafness' 'Hearing loss - familial salivary gland insensitivity to aldosterone' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_3224 Deafness - genital anomalies - metacarpal and metatarsal synostosis 'Deafness - genital anomalies - metacarpal and metatarsal synostosis' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Deafness - genital anomalies - metacarpal and metatarsal synostosis' SubClassOf 'congenital nervous system disorder' 'Deafness - genital anomalies - metacarpal and metatarsal synostosis' SubClassOf 'syndromic intellectual disability' 'Deafness - genital anomalies - metacarpal and metatarsal synostosis' SubClassOf 'Syndromic genetic deafness' 'Deafness - genital anomalies - metacarpal and metatarsal synostosis' SubClassOf 'Syndromic urogenital tract malformation' 'Deafness - genital anomalies - metacarpal and metatarsal synostosis' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Deafness - genital anomalies - metacarpal and metatarsal synostosis' SubClassOf 'Syndromic genetic deafness' 'Deafness - genital anomalies - metacarpal and metatarsal synostosis' SubClassOf 'Syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0014900 autosomal recessive limb-girdle muscular dystrophy type 2Y 'autosomal recessive limb-girdle muscular dystrophy type 2Y' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'autosomal recessive limb-girdle muscular dystrophy type 2Y' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015152 http://purl.obolibrary.org/obo/MONDO_0002928 carcinosarcoma 'carcinosarcoma' SubClassOf 'Malignant Mixed Neoplasm' 'carcinosarcoma' SubClassOf 'Malignant Mixed Neoplasm' http://www.orpha.net/ORDO/Orphanet_261572 Blepharophimosis - epicanthus inversus - ptosis due to a point mutation 'Blepharophimosis - epicanthus inversus - ptosis due to a point mutation' SubClassOf 'Blepharophimosis - epicanthus inversus - ptosis' 'Blepharophimosis - epicanthus inversus - ptosis due to a point mutation' SubClassOf 'Blepharophimosis - epicanthus inversus - ptosis' http://purl.obolibrary.org/obo/MONDO_0002924 smooth muscle cancer 'smooth muscle cancer' SubClassOf 'smooth muscle tumor' 'smooth muscle cancer' SubClassOf 'smooth muscle tumor' http://www.orpha.net/ORDO/Orphanet_3233 Cochleosaccular degeneration - cataract 'Cochleosaccular degeneration - cataract' SubClassOf 'autosomal dominant cataract' 'Cochleosaccular degeneration - cataract' SubClassOf 'Syndromic genetic deafness' 'Cochleosaccular degeneration - cataract' SubClassOf 'Syndromic cataract' 'Cochleosaccular degeneration - cataract' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_3232 Deafness - ear malformation - facial palsy 'Deafness - ear malformation - facial palsy' SubClassOf 'Syndromic genetic deafness' 'Deafness - ear malformation - facial palsy' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_3231 Deafness-onychodystrophy syndrome 'Deafness-onychodystrophy syndrome' SubClassOf 'syndromic intellectual disability' 'Deafness-onychodystrophy syndrome' SubClassOf 'Syndromic genetic deafness' 'Deafness-onychodystrophy syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Deafness-onychodystrophy syndrome' SubClassOf 'Syndromic nail anomaly' 'Deafness-onychodystrophy syndrome' SubClassOf 'Syndromic genetic deafness' 'Deafness-onychodystrophy syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Deafness-onychodystrophy syndrome' SubClassOf 'Syndromic nail anomaly' http://www.orpha.net/ORDO/Orphanet_261559 Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion 'Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion' SubClassOf 'Blepharophimosis - epicanthus inversus - ptosis' 'Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion' SubClassOf 'Partial deletion of the long arm of chromosome 3' 'Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_3230 Deafness - oligodontia 'Deafness - oligodontia' SubClassOf 'Syndromic genetic deafness' 'Deafness - oligodontia' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_3239 Deafness - vitiligo - achalasia 'Deafness - vitiligo - achalasia' SubClassOf 'Syndromic genetic deafness' 'Deafness - vitiligo - achalasia' SubClassOf 'Syndromic genetic deafness' http://purl.obolibrary.org/obo/MONDO_0014919 sessile serrated polyposis cancer syndrome 'sessile serrated polyposis cancer syndrome' SubClassOf 'Hyperplastic polyposis syndrome' 'sessile serrated polyposis cancer syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015524 http://www.orpha.net/ORDO/Orphanet_3238 Cardiospondylocarpofacial syndrome 'Cardiospondylocarpofacial syndrome' SubClassOf 'Syndromic genetic deafness' 'Cardiospondylocarpofacial syndrome' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_3237 Multiple synostoses syndrome 'Multiple synostoses syndrome' SubClassOf 'congenital nervous system disorder' 'Multiple synostoses syndrome' SubClassOf 'Syndromic genetic deafness' 'Multiple synostoses syndrome' SubClassOf 'congenital limb malformation' 'Multiple synostoses syndrome' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_3236 Conductive deafness - ptosis - skeletal anomalies 'Conductive deafness - ptosis - skeletal anomalies' SubClassOf 'Ectodermal dysplasia syndrome' 'Conductive deafness - ptosis - skeletal anomalies' SubClassOf 'Ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0014916 developmental and epileptic encephalopathy, 41 'developmental and epileptic encephalopathy, 41' SubClassOf 'undetermined early-onset epileptic encephalopathy' 'developmental and epileptic encephalopathy, 41' SubClassOf 'Early myoclonic encephalopathy' 'developmental and epileptic encephalopathy, 41' SubClassOf 'undetermined early-onset epileptic encephalopathy' 'developmental and epileptic encephalopathy, 41' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016022 http://www.orpha.net/ORDO/Orphanet_3235 Progressive deafness with stapes fixation 'Progressive deafness with stapes fixation' SubClassOf 'Syndromic genetic deafness' 'Progressive deafness with stapes fixation' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_99989 Intermediate DEND syndrome 'Intermediate DEND syndrome' SubClassOf 'DEND syndrome' 'Intermediate DEND syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019207 http://www.orpha.net/ORDO/Orphanet_97340 Hunter-McAlpine craniosynostosis 'Hunter-McAlpine craniosynostosis' SubClassOf 'Syndromic craniosynostosis' 'Hunter-McAlpine craniosynostosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_97345 Familial dementia, British type 'Familial dementia, British type' SubClassOf 'Genetic neurodegenerative disease with dementia' 'Familial dementia, British type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_97346 Familial dementia, Danish type 'Familial dementia, Danish type' SubClassOf 'Genetic neurodegenerative disease with dementia' 'Familial dementia, Danish type' SubClassOf http://www.w3.org/2002/07/owl#Thing 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 obesity' 'short stature-brachydactyly-obesity-global developmental delay syndrome' SubClassOf 'Rare genetic neurological disorder' 'short stature-brachydactyly-obesity-global developmental delay syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'short stature-brachydactyly-obesity-global developmental delay syndrome' SubClassOf 'Acromelic dysplasia' 'short stature-brachydactyly-obesity-global developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019695 'short stature-brachydactyly-obesity-global developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015159 'short stature-brachydactyly-obesity-global developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016565 'short stature-brachydactyly-obesity-global developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 'short stature-brachydactyly-obesity-global developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043005 http://purl.obolibrary.org/obo/MONDO_0000308 primary systemic mycosis 'primary systemic mycosis' SubClassOf 'systemic mycosis' 'primary systemic mycosis' SubClassOf 'systemic mycosis' http://purl.obolibrary.org/obo/MONDO_0000314 primary bacterial infectious disease 'primary bacterial infectious disease' SubClassOf 'bacterial disease' 'primary bacterial infectious disease' SubClassOf 'bacterial disease' http://www.orpha.net/ORDO/Orphanet_97362 Bilateral renal hypoplasia 'Bilateral renal hypoplasia' SubClassOf 'Renal hypoplasia' 'Bilateral renal hypoplasia' SubClassOf 'Renal hypoplasia' http://www.orpha.net/ORDO/Orphanet_97363 Unilateral multicystic dysplastic kidney 'Unilateral multicystic dysplastic kidney' SubClassOf 'Multicystic dysplastic kidney' 'Unilateral multicystic dysplastic kidney' SubClassOf 'Multicystic dysplastic kidney' http://www.orpha.net/ORDO/Orphanet_97364 Bilateral multicystic dysplastic kidney 'Bilateral multicystic dysplastic kidney' SubClassOf 'Multicystic dysplastic kidney' 'Bilateral multicystic dysplastic kidney' SubClassOf 'Multicystic dysplastic kidney' 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' 'gnb5-related intellectual disability-cardiac arrhythmia syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015110 http://www.orpha.net/ORDO/Orphanet_97369 Renal tubular dysgenesis of genetic origin 'Renal tubular dysgenesis of genetic origin' SubClassOf 'renal tubular dysgenesis' 'Renal tubular dysgenesis of genetic origin' EquivalentTo 'renal tubular dysgenesis' and ('has modifier' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0000316 opportunistic bacterial infectious disease 'opportunistic bacterial infectious disease' SubClassOf 'bacterial disease' 'opportunistic bacterial infectious disease' SubClassOf 'bacterial disease' http://purl.obolibrary.org/obo/MONDO_0000315 commensal bacterial infectious disease 'commensal bacterial infectious disease' SubClassOf 'bacterial disease' 'commensal bacterial infectious disease' SubClassOf 'bacterial disease' http://purl.obolibrary.org/obo/MONDO_0002979 papillary squamous carcinoma 'papillary squamous carcinoma' SubClassOf 'squamous cell carcinoma' 'papillary squamous carcinoma' SubClassOf 'squamous cell carcinoma' http://www.orpha.net/ORDO/Orphanet_97360 Robinow syndrome 'Robinow syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Robinow syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' 'Robinow syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'Robinow syndrome' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' 'Robinow syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_97361 Unilateral renal hypoplasia 'Unilateral renal hypoplasia' SubClassOf 'Renal hypoplasia' 'Unilateral renal hypoplasia' SubClassOf 'Renal hypoplasia' http://www.orpha.net/ORDO/Orphanet_261501 Atypical Norrie disease due to monosomy Xp11.3 'Atypical Norrie disease due to monosomy Xp11.3' SubClassOf 'Partial monosomy of the short arm of chromosome X' 'Atypical Norrie disease due to monosomy Xp11.3' SubClassOf 'Partial monosomy of the short arm of chromosome X' http://www.orpha.net/ORDO/Orphanet_320370 Autosomal recessive spastic paraplegia type 43 'Autosomal recessive spastic paraplegia type 43' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 43' SubClassOf 'Autosomal recessive complex spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_320375 Autosomal recessive spastic paraplegia type 55 'Autosomal recessive spastic paraplegia type 55' SubClassOf 'c12orf65-related combined oxidative phosphorylation defect' 'Autosomal recessive spastic paraplegia type 55' SubClassOf 'facial paralysis' 'Autosomal recessive spastic paraplegia type 55' SubClassOf 'eye degenerative disorder' 'Autosomal recessive spastic paraplegia type 55' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 55' SubClassOf 'Autosomal recessive complex spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0002998 skull base meningioma 'skull base meningioma' SubClassOf 'Meningioma' 'skull base meningioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016642 http://purl.obolibrary.org/obo/MONDO_0000334 multinodular goiter 'multinodular goiter' SubClassOf 'nodular goiter' 'multinodular goiter' SubClassOf 'nodular goiter' http://www.orpha.net/ORDO/Orphanet_320360 Maternally-inherited spastic paraplegia 'Maternally-inherited spastic paraplegia' SubClassOf 'Complex hereditary spastic paraplegia' 'Maternally-inherited spastic paraplegia' SubClassOf 'Complex hereditary spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_320365 Autosomal dominant spastic paraplegia type 36 'Autosomal dominant spastic paraplegia type 36' SubClassOf 'Autosomal dominant complex spastic paraplegia' 'Autosomal dominant spastic paraplegia type 36' SubClassOf 'Autosomal dominant complex spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0000341 paralytic poliomyelitis 'paralytic poliomyelitis' SubClassOf 'poliomyelitis' 'paralytic poliomyelitis' SubClassOf 'poliomyelitis' http://purl.obolibrary.org/obo/MONDO_0024311 cancer affecting bone of limb skeleton 'cancer affecting bone of limb skeleton' SubClassOf 'Malignant Bone Neoplasm' 'cancer affecting bone of limb skeleton' SubClassOf 'limb disorder' 'cancer affecting bone of limb skeleton' SubClassOf 'Malignant Bone Neoplasm' http://purl.obolibrary.org/obo/MONDO_0012322 holoprosencephaly 5 'holoprosencephaly 5' SubClassOf 'Alobar holoprosencephaly' 'holoprosencephaly 5' SubClassOf 'Septopreoptic holoprosencephaly' 'holoprosencephaly 5' SubClassOf 'Midline interhemispheric variant of holoprosencephaly' 'holoprosencephaly 5' SubClassOf 'Semilobar holoprosencephaly' 'holoprosencephaly 5' SubClassOf 'Microform holoprosencephaly' 'holoprosencephaly 5' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017219 'holoprosencephaly 5' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017218 'holoprosencephaly 5' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019756 'holoprosencephaly 5' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019757 'holoprosencephaly 5' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019758 'holoprosencephaly 5' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016355 http://purl.obolibrary.org/obo/MONDO_0012320 migraine, familial hemiplegic, 3 'migraine, familial hemiplegic, 3' SubClassOf 'familial hemiplegic migraine' 'migraine, familial hemiplegic, 3' SubClassOf 'Familial or sporadic hemiplegic migraine' 'migraine, familial hemiplegic, 3' SubClassOf 'familial hemiplegic migraine' http://www.orpha.net/ORDO/Orphanet_320350 Pure or complex X-linked spastic paraplegia 'Pure or complex X-linked spastic paraplegia' SubClassOf 'Pure or complex hereditary spastic paraplegia' 'Pure or complex X-linked spastic paraplegia' SubClassOf 'Pure or complex hereditary spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_320355 Autosomal dominant spastic paraplegia type 41 'Autosomal dominant spastic paraplegia type 41' SubClassOf 'Autosomal dominant pure spastic paraplegia' 'Autosomal dominant spastic paraplegia type 41' SubClassOf 'Autosomal dominant pure spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0000351 disorder of methionine catabolism 'disorder of methionine catabolism' SubClassOf 'Disorder of methionine cycle and sulfur amino acid metabolism' 'disorder of methionine catabolism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019222 http://purl.obolibrary.org/obo/MONDO_0014995 neurodevelopmental disorder with hypotonia, seizures, and absent language 'neurodevelopmental disorder with hypotonia, seizures, and absent language' SubClassOf 'Rare genetic neurological disorder' 'neurodevelopmental disorder with hypotonia, seizures, and absent language' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://purl.obolibrary.org/obo/MONDO_0014993 myofibrillar myopathy 8 'myofibrillar myopathy 8' SubClassOf 'Myofibrillar myopathy' 'myofibrillar myopathy 8' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018943 http://www.orpha.net/ORDO/Orphanet_320342 Pure or complex autosomal dominant spastic paraplegia 'Pure or complex autosomal dominant spastic paraplegia' SubClassOf 'Pure or complex hereditary spastic paraplegia' 'Pure or complex autosomal dominant spastic paraplegia' SubClassOf 'Pure or complex hereditary spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_320346 Pure or complex autosomal recessive spastic paraplegia 'Pure or complex autosomal recessive spastic paraplegia' SubClassOf 'Pure or complex hereditary spastic paraplegia' 'Pure or complex autosomal recessive spastic paraplegia' SubClassOf 'Pure or complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0000359 spondylocostal dysostosis 'spondylocostal dysostosis' SubClassOf 'Dysostosis of genetic origin' 'spondylocostal dysostosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018454 http://purl.obolibrary.org/obo/MONDO_0000365 primary congenital glaucoma 'primary congenital glaucoma' SubClassOf 'Congenital glaucoma' 'primary congenital glaucoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020366 http://purl.obolibrary.org/obo/MONDO_0000369 abdominal tuberculosis 'abdominal tuberculosis' SubClassOf 'abdominal and pelvic region disorder' http://purl.obolibrary.org/obo/MONDO_0000368 extrapulmonary tuberculosis 'extrapulmonary tuberculosis' SubClassOf 'Tuberculosis' 'extrapulmonary tuberculosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018076 http://purl.obolibrary.org/obo/MONDO_0024337 urothelial neoplasm 'urothelial neoplasm' SubClassOf 'urinary system neoplasm' 'urothelial neoplasm' SubClassOf 'urinary system neoplasm' http://www.orpha.net/ORDO/Orphanet_319332 Autosomal recessive myogenic arthrogryposis multiplex congenita 'Autosomal recessive myogenic arthrogryposis multiplex congenita' SubClassOf 'Congenital muscular dystrophy' 'Autosomal recessive myogenic arthrogryposis multiplex congenita' SubClassOf 'Arthrogryposis multiplex congenita' 'Autosomal recessive myogenic arthrogryposis multiplex congenita' SubClassOf 'Congenital muscular dystrophy' 'Autosomal recessive myogenic arthrogryposis multiplex congenita' SubClassOf 'Arthrogryposis multiplex congenita' http://www.orpha.net/ORDO/Orphanet_320335 Pure or complex hereditary spastic paraplegia 'Pure or complex hereditary spastic paraplegia' SubClassOf 'Hereditary spastic paraplegia' 'Pure or complex hereditary spastic paraplegia' SubClassOf 'Hereditary spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_320332 X-linked pure spastic paraplegia 'X-linked pure spastic paraplegia' SubClassOf 'Pure hereditary spastic paraplegia' 'X-linked pure spastic paraplegia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_261552 Mowat-Wilson syndrome due to a ZEB2 point mutation 'Mowat-Wilson syndrome due to a ZEB2 point mutation' SubClassOf 'Mowat-Wilson syndrome' 'Mowat-Wilson syndrome due to a ZEB2 point mutation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0000376 respiratory system cancer 'respiratory system cancer' SubClassOf 'cancer' 'respiratory system cancer' SubClassOf 'cancer' http://www.orpha.net/ORDO/Orphanet_261537 Mowat-Wilson syndrome due to monosomy 2q22 'Mowat-Wilson syndrome due to monosomy 2q22' SubClassOf 'Mowat-Wilson syndrome' 'Mowat-Wilson syndrome due to monosomy 2q22' SubClassOf 'Partial deletion of the long arm of chromosome 2' 'Mowat-Wilson syndrome due to monosomy 2q22' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_261534 49,XXXYY syndrome '49,XXXYY syndrome' SubClassOf 'X and Y chromosomal anomaly' '49,XXXYY syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_319340 Carney complex-trismus-pseudocamptodactyly syndrome 'Carney complex-trismus-pseudocamptodactyly syndrome' SubClassOf 'Heart-hand syndrome' 'Carney complex-trismus-pseudocamptodactyly syndrome' SubClassOf 'Carney complex' 'Carney complex-trismus-pseudocamptodactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015285 http://purl.obolibrary.org/obo/MONDO_0012350 complement factor H deficiency 'complement factor H deficiency' SubClassOf 'Atypical hemolytic-uremic syndrome' 'complement factor H deficiency' SubClassOf 'Non-immunoglobulin-mediated membranoproliferative glomerulonephritis' 'complement factor H deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018013 'complement factor H deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016244 'complement factor H deficiency' SubClassOf 'hereditary nephritis' http://purl.obolibrary.org/obo/MONDO_0000387 hypochromic microcytic anemia 'hypochromic microcytic anemia' SubClassOf 'microcytic anemia' 'hypochromic microcytic anemia' SubClassOf 'microcytic anemia' http://www.orpha.net/ORDO/Orphanet_261529 Ring chromosome Y 'Ring chromosome Y' SubClassOf 'chromosome Y disorder' 'Ring chromosome Y' SubClassOf 'Chromosome Y structural anomaly' 'Ring chromosome Y' SubClassOf 'ring chromosome disorder' 'Ring chromosome Y' SubClassOf 'Chromosome Y structural anomaly' http://purl.obolibrary.org/obo/MONDO_0000385 benign digestive system neoplasm 'benign digestive system neoplasm' SubClassOf 'digestive system neoplasm' 'benign digestive system neoplasm' SubClassOf 'benign neoplasm' 'benign digestive system neoplasm' SubClassOf 'digestive system neoplasm' 'benign digestive system neoplasm' SubClassOf 'benign neoplasm' http://www.orpha.net/ORDO/Orphanet_261524 Paternal uniparental disomy of chromosome X 'Paternal uniparental disomy of chromosome X' SubClassOf 'Uniparental disomy of chromosome X' 'Paternal uniparental disomy of chromosome X' SubClassOf 'chromosome X disorder' 'Paternal uniparental disomy of chromosome X' SubClassOf 'uniparental disomy' 'Paternal uniparental disomy of chromosome X' SubClassOf 'Uniparental disomy of chromosome X' http://purl.obolibrary.org/obo/MONDO_0000383 benign reproductive system neoplasm 'benign reproductive system neoplasm' SubClassOf 'benign neoplasm' 'benign reproductive system neoplasm' SubClassOf 'benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0000382 respiratory system benign neoplasm 'respiratory system benign neoplasm' SubClassOf 'benign neoplasm' 'respiratory system benign neoplasm' SubClassOf 'benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0012363 retinitis pigmentosa 32 'retinitis pigmentosa 32' SubClassOf 'Retinitis pigmentosa' 'retinitis pigmentosa 32' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019200 http://www.orpha.net/ORDO/Orphanet_320317 Cleft lip/palate - ectodermal dysplasia 'Cleft lip/palate - ectodermal dysplasia' SubClassOf 'Ectodermal dysplasia syndrome' 'Cleft lip/palate - ectodermal dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_261519 Maternal uniparental disomy of chromosome X 'Maternal uniparental disomy of chromosome X' SubClassOf 'chromosome X disorder' 'Maternal uniparental disomy of chromosome X' SubClassOf 'Uniparental disomy of chromosome X' 'Maternal uniparental disomy of chromosome X' SubClassOf 'uniparental disomy' 'Maternal uniparental disomy of chromosome X' SubClassOf 'Uniparental disomy of chromosome X' http://purl.obolibrary.org/obo/MONDO_0000396 spastic cerebral palsy 'spastic cerebral palsy' SubClassOf 'cerebral palsy' 'spastic cerebral palsy' SubClassOf 'cerebral palsy' http://purl.obolibrary.org/obo/MONDO_0000390 vitelliform macular dystrophy 'vitelliform macular dystrophy' SubClassOf 'Genetic macular dystrophy' 'vitelliform macular dystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020242 http://www.orpha.net/ORDO/Orphanet_319328 Inherited renal cancer-predisposing syndrome 'Inherited renal cancer-predisposing syndrome' SubClassOf 'kidney disease' 'Inherited renal cancer-predisposing syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' 'Inherited renal cancer-predisposing syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' http://purl.obolibrary.org/obo/MONDO_0000167 Huntington disease and related disorders 'Huntington disease and related disorders' SubClassOf 'Genetic neurodegenerative disease' 'Huntington disease and related disorders' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024237 http://purl.obolibrary.org/obo/MONDO_0000166 encephalopathy, acute, infection-induced 'encephalopathy, acute, infection-induced' SubClassOf 'Rare genetic neurological disorder' 'encephalopathy, acute, infection-induced' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.orpha.net/ORDO/Orphanet_261902 Partial deletion of the short arm of chromosome 6 'Partial deletion of the short arm of chromosome 6' SubClassOf 'Partial deletion of chromosome 6' 'Partial deletion of the short arm of chromosome 6' SubClassOf 'Partial deletion of chromosome 6' http://purl.obolibrary.org/obo/MONDO_0000169 microphthalmia, isolated, with cataract 'microphthalmia, isolated, with cataract' SubClassOf 'isolated microphthalmia' 'microphthalmia, isolated, with cataract' SubClassOf 'isolated microphthalmia' http://www.ebi.ac.uk/efo/EFO_0007446 pleural tuberculosis 'pleural tuberculosis' SubClassOf 'Tuberculosis' http://purl.obolibrary.org/obo/MONDO_0000160 epilepsy, familial adult myoclonic 'epilepsy, familial adult myoclonic' SubClassOf 'Early myoclonic encephalopathy' 'epilepsy, familial adult myoclonic' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016022 http://purl.obolibrary.org/obo/MONDO_0700124 chromosome 21 disorder 'chromosome 21 disorder' SubClassOf 'Autosomal anomaly' 'chromosome 21 disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020049 http://purl.obolibrary.org/obo/MONDO_0700125 chromosome 18 disorder 'chromosome 18 disorder' SubClassOf 'Autosomal anomaly' 'chromosome 18 disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020049 http://www.ebi.ac.uk/efo/EFO_0007430 persian gulf syndrome 'persian gulf syndrome' SubClassOf 'syndromic disease' 'persian gulf syndrome' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_209335 Adult-onset proximal spinal muscular atrophy, autosomal dominant 'Adult-onset proximal spinal muscular atrophy, autosomal dominant' SubClassOf 'Autosomal dominant proximal spinal muscular atrophy' 'Adult-onset proximal spinal muscular atrophy, autosomal dominant' SubClassOf 'Autosomal dominant proximal spinal muscular atrophy' http://purl.obolibrary.org/obo/MONDO_0000170 microphthalmia, isolated, with coloboma 'microphthalmia, isolated, with coloboma' SubClassOf 'Isolated anophthalmia - microphthalmia' 'microphthalmia, isolated, with coloboma' SubClassOf 'isolated microphthalmia' 'microphthalmia, isolated, with coloboma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016764 'microphthalmia, isolated, with coloboma' SubClassOf 'isolated microphthalmia' http://purl.obolibrary.org/obo/MONDO_0000173 muscular dystrophy-dystroglycanopathy, type C 'muscular dystrophy-dystroglycanopathy, type C' SubClassOf 'Congenital muscular dystrophy due to dystroglycanopathy' 'muscular dystrophy-dystroglycanopathy, type C' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018276 'muscular dystrophy-dystroglycanopathy, type C' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://purl.obolibrary.org/obo/MONDO_0000172 muscular dystrophy-dystroglycanopathy, type B 'muscular dystrophy-dystroglycanopathy, type B' SubClassOf 'Congenital muscular dystrophy due to dystroglycanopathy' 'muscular dystrophy-dystroglycanopathy, type B' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 'muscular dystrophy-dystroglycanopathy, type B' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018276 http://purl.obolibrary.org/obo/MONDO_0000171 muscular dystrophy-dystroglycanopathy, type A 'muscular dystrophy-dystroglycanopathy, type A' SubClassOf 'Qualitative or quantitative defects of protein O-mannosyltransferase 1' 'muscular dystrophy-dystroglycanopathy, type A' SubClassOf 'Congenital muscular dystrophy due to dystroglycanopathy' 'muscular dystrophy-dystroglycanopathy, type A' SubClassOf 'Qualitative or quantitative defects of protein O-mannosyltransferase 2' 'muscular dystrophy-dystroglycanopathy, type A' SubClassOf 'Cobblestone lissencephaly' 'muscular dystrophy-dystroglycanopathy, type A' SubClassOf 'Neurometabolic disease' 'muscular dystrophy-dystroglycanopathy, type A' SubClassOf 'Developmental anomaly of metabolic origin' 'muscular dystrophy-dystroglycanopathy, type A' SubClassOf 'Qualitative or quantitative defects of FKRP' 'muscular dystrophy-dystroglycanopathy, type A' SubClassOf 'Disorder of O-mannosylglycan synthesis' 'muscular dystrophy-dystroglycanopathy, type A' SubClassOf 'Congenital vitreoretinal dysplasia' 'muscular dystrophy-dystroglycanopathy, type A' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016156 'muscular dystrophy-dystroglycanopathy, type A' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020247 'muscular dystrophy-dystroglycanopathy, type A' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017745 'muscular dystrophy-dystroglycanopathy, type A' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019058 'muscular dystrophy-dystroglycanopathy, type A' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015327 'muscular dystrophy-dystroglycanopathy, type A' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018276 'muscular dystrophy-dystroglycanopathy, type A' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016185 'muscular dystrophy-dystroglycanopathy, type A' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018869 'muscular dystrophy-dystroglycanopathy, type A' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016184 http://purl.obolibrary.org/obo/MONDO_0000188 GLUT1 deficiency syndrome 'GLUT1 deficiency syndrome' SubClassOf 'Glucose transport disorder' 'GLUT1 deficiency syndrome' SubClassOf 'Neurometabolic disease' 'GLUT1 deficiency syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019226 'GLUT1 deficiency syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019058 http://www.ebi.ac.uk/efo/EFO_0007462 REM sleep behavior disorder 'REM sleep behavior disorder' SubClassOf 'sleep-wake disorder' 'REM sleep behavior disorder' SubClassOf 'sleep-wake disorder' http://www.ebi.ac.uk/efo/EFO_0007460 reactive arthritis 'reactive arthritis' SubClassOf 'arthritis' 'reactive arthritis' SubClassOf 'arthritis' http://www.ebi.ac.uk/efo/EFO_0007467 Reye syndrome 'Reye syndrome' SubClassOf 'syndromic disease' 'Reye syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0007466 retroperitoneal cancer 'retroperitoneal cancer' SubClassOf 'cancer' 'retroperitoneal cancer' SubClassOf 'cancer' http://www.orpha.net/ORDO/Orphanet_209341 Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures 'Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures' SubClassOf 'Autosomal dominant childhood-onset proximal spinal muscular atrophy' 'Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures' SubClassOf 'Autosomal dominant childhood-onset proximal spinal muscular atrophy' http://www.ebi.ac.uk/efo/EFO_0007450 poliomyelitis 'poliomyelitis' SubClassOf 'anterior horn disorder' 'poliomyelitis' SubClassOf 'anterior horn disorder' http://www.ebi.ac.uk/efo/EFO_0007454 postpoliomyelitis syndrome 'postpoliomyelitis syndrome' SubClassOf 'poliomyelitis' 'postpoliomyelitis syndrome' SubClassOf 'poliomyelitis' http://www.ebi.ac.uk/efo/EFO_0007485 silicosis 'silicosis' SubClassOf 'pneumoconiosis' 'silicosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015926 http://www.orpha.net/ORDO/Orphanet_261947 Partial deletion of the short arm of chromosome 11 'Partial deletion of the short arm of chromosome 11' SubClassOf 'Partial deletion of chromosome 11' 'Partial deletion of the short arm of chromosome 11' SubClassOf 'Partial deletion of chromosome 11' http://www.ebi.ac.uk/efo/EFO_0007487 skeletal tuberculosis 'skeletal tuberculosis' SubClassOf 'Tuberculosis' http://purl.obolibrary.org/obo/MONDO_0012187 Fanconi anemia complementation group J 'Fanconi anemia complementation group J' SubClassOf 'Fanconi anemia' 'Fanconi anemia complementation group J' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019391 http://www.ebi.ac.uk/efo/EFO_0007492 splenic tuberculosis 'splenic tuberculosis' SubClassOf 'Tuberculosis' http://www.ebi.ac.uk/efo/EFO_0007491 spleen cancer 'spleen cancer' SubClassOf 'digestive system cancer' 'spleen cancer' SubClassOf 'digestive system cancer' http://purl.obolibrary.org/obo/MONDO_0012186 Fanconi anemia complementation group I 'Fanconi anemia complementation group I' SubClassOf 'Fanconi anemia' 'Fanconi anemia complementation group I' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019391 http://purl.obolibrary.org/obo/MONDO_0012183 melanoma, cutaneous malignant, susceptibility to, 3 'melanoma, cutaneous malignant, susceptibility to, 3' SubClassOf 'Familial melanoma' 'melanoma, cutaneous malignant, susceptibility to, 3' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018961 http://www.ebi.ac.uk/efo/EFO_0007478 scirrhous adenocarcinoma 'scirrhous adenocarcinoma' SubClassOf 'adenocarcinoma' 'scirrhous adenocarcinoma' SubClassOf 'adenocarcinoma' http://www.orpha.net/ORDO/Orphanet_261938 Partial deletion of the short arm of chromosome 10 'Partial deletion of the short arm of chromosome 10' SubClassOf 'Partial deletion of chromosome 10' 'Partial deletion of the short arm of chromosome 10' SubClassOf 'Partial deletion of chromosome 10' http://www.ebi.ac.uk/efo/EFO_0007481 septicemic plague 'septicemic plague' SubClassOf 'Yersinia pestis infectious disease' 'septicemic plague' SubClassOf 'Yersinia pestis infectious disease' http://purl.obolibrary.org/obo/MONDO_0012197 idiopathic aplastic anemia 'idiopathic aplastic anemia' SubClassOf 'telomere syndrome' 'idiopathic aplastic anemia' SubClassOf 'anemia' 'idiopathic aplastic anemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015909 http://www.ebi.ac.uk/efo/EFO_0007480 scrub typhus 'scrub typhus' SubClassOf 'typhus' 'scrub typhus' SubClassOf 'typhus' http://www.orpha.net/ORDO/Orphanet_209370 Severe neonatal-onset encephalopathy with microcephaly 'Severe neonatal-onset encephalopathy with microcephaly' SubClassOf 'Monogenic disease with epilepsy' 'Severe neonatal-onset encephalopathy with microcephaly' SubClassOf 'Neonatal epilepsy syndrome' 'Severe neonatal-onset encephalopathy with microcephaly' SubClassOf 'Monogenic disease with epilepsy' 'Severe neonatal-onset encephalopathy with microcephaly' SubClassOf 'Neonatal epilepsy syndrome' http://www.orpha.net/ORDO/Orphanet_261920 Partial deletion of the short arm of chromosome 8 'Partial deletion of the short arm of chromosome 8' SubClassOf 'Partial deletion of chromosome 8' 'Partial deletion of the short arm of chromosome 8' SubClassOf 'Partial deletion of chromosome 8' http://www.orpha.net/ORDO/Orphanet_330197 Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' SubClassOf 'syndromic intellectual disability' 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' SubClassOf 'Rare genetic neurological disorder' 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' SubClassOf 'congenital nervous system disorder' 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome' http://www.orpha.net/ORDO/Orphanet_329191 Tall stature - scoliosis - macrodactyly of the great toes 'Tall stature - scoliosis - macrodactyly of the great toes' SubClassOf 'Dysostosis of genetic origin' http://www.ebi.ac.uk/efo/EFO_0007494 sporotrichosis 'sporotrichosis' SubClassOf 'fungal infectious disease' 'sporotrichosis' SubClassOf 'fungal infectious disease' http://www.orpha.net/ORDO/Orphanet_261911 Partial deletion of the short arm of chromosome 7 'Partial deletion of the short arm of chromosome 7' SubClassOf 'Partial deletion of chromosome 7' 'Partial deletion of the short arm of chromosome 7' SubClassOf 'Partial deletion of chromosome 7' http://www.ebi.ac.uk/efo/EFO_0007498 Stiff-Person syndrome 'Stiff-Person syndrome' SubClassOf 'syndromic disease' 'Stiff-Person syndrome' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_329195 Developmental delay with autism spectrum disorder and gait instability 'Developmental delay with autism spectrum disorder and gait instability' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_307837 Focal palmoplantar keratoderma 'Focal palmoplantar keratoderma' SubClassOf 'Hereditary palmoplantar keratoderma' 'Focal palmoplantar keratoderma' SubClassOf 'Hereditary palmoplantar keratoderma' http://www.orpha.net/ORDO/Orphanet_307846 Isolated focal palmoplantar keratoderma 'Isolated focal palmoplantar keratoderma' SubClassOf 'Focal palmoplantar keratoderma' 'Isolated focal palmoplantar keratoderma' EquivalentTo 'Focal palmoplantar keratoderma' and ('has modifier' some 'has an isolated presentation') 'Isolated focal palmoplantar keratoderma' SubClassOf 'has modifier' some 'has an isolated presentation' 'Isolated focal palmoplantar keratoderma' SubClassOf 'Focal palmoplantar keratoderma' http://www.orpha.net/ORDO/Orphanet_63442 Angel-shaped phalango-epiphyseal dysplasia 'Angel-shaped phalango-epiphyseal dysplasia' SubClassOf 'Acromelic dysplasia' 'Angel-shaped phalango-epiphyseal dysplasia' SubClassOf 'Acromelic dysplasia' http://www.orpha.net/ORDO/Orphanet_63440 Isolated oxycephaly 'Isolated oxycephaly' SubClassOf 'Isolated craniosynostosis' 'Isolated oxycephaly' SubClassOf 'Isolated craniosynostosis' http://www.orpha.net/ORDO/Orphanet_488613 global developmental delay - neuro-ophthalmological abnormalities - seizures - intellectual disability syndrome 'global developmental delay - neuro-ophthalmological abnormalities - seizures - intellectual disability syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'global developmental delay - neuro-ophthalmological abnormalities - seizures - intellectual disability syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295243 Macrodactyly of toes, unilateral 'Macrodactyly of toes, unilateral' SubClassOf 'Macrodactyly of toes' 'Macrodactyly of toes, unilateral' SubClassOf 'Macrodactyly of toes' http://www.orpha.net/ORDO/Orphanet_295241 Macrodactyly of fingers, bilateral 'Macrodactyly of fingers, bilateral' SubClassOf 'Macrodactyly of fingers' 'Macrodactyly of fingers, bilateral' SubClassOf 'Macrodactyly of fingers' http://www.orpha.net/ORDO/Orphanet_99429 Complete androgen insensitivity syndrome 'Complete androgen insensitivity syndrome' SubClassOf 'Androgen insensitivity syndrome' 'Complete androgen insensitivity syndrome' SubClassOf 'Androgen insensitivity syndrome' http://www.orpha.net/ORDO/Orphanet_295245 Macrodactyly of toes, bilateral 'Macrodactyly of toes, bilateral' SubClassOf 'Macrodactyly of toes' 'Macrodactyly of toes, bilateral' SubClassOf 'Macrodactyly of toes' http://www.orpha.net/ORDO/Orphanet_295239 Macrodactyly of fingers, unilateral 'Macrodactyly of fingers, unilateral' SubClassOf 'Macrodactyly of fingers' 'Macrodactyly of fingers, unilateral' SubClassOf 'Macrodactyly of fingers' http://www.orpha.net/ORDO/Orphanet_329228 Microcephalic primordial dwarfism due to ZNF335 deficiency 'Microcephalic primordial dwarfism due to ZNF335 deficiency' SubClassOf 'Autosomal recessive primary microcephaly' 'Microcephalic primordial dwarfism due to ZNF335 deficiency' SubClassOf 'Microcephalic primordial dwarfism' 'Microcephalic primordial dwarfism due to ZNF335 deficiency' SubClassOf 'Microcephalic primordial dwarfism' http://www.orpha.net/ORDO/Orphanet_329224 Intellectual disability - craniofacial dysmorphism - cryptorchidism 'Intellectual disability - craniofacial dysmorphism - cryptorchidism' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Intellectual disability - craniofacial dysmorphism - cryptorchidism' SubClassOf 'congenital nervous system disorder' 'Intellectual disability - craniofacial dysmorphism - cryptorchidism' SubClassOf 'syndromic intellectual disability' 'Intellectual disability - craniofacial dysmorphism - cryptorchidism' SubClassOf 'intellectual disability, autosomal dominant' 'Intellectual disability - craniofacial dysmorphism - cryptorchidism' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_329211 Autosomal dominant neovascular inflammatory vitreoretinopathy 'Autosomal dominant neovascular inflammatory vitreoretinopathy' SubClassOf 'Vitreoretinal degeneration' 'Autosomal dominant neovascular inflammatory vitreoretinopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_330206 Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome' 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' EquivalentTo 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' and ('has modifier' some 'inherited') 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome' http://www.orpha.net/ORDO/Orphanet_63454 Patterned dystrophy of the retinal pigment epithelium 'Patterned dystrophy of the retinal pigment epithelium' SubClassOf 'Genetic macular dystrophy' 'Patterned dystrophy of the retinal pigment epithelium' SubClassOf 'Genetic macular dystrophy' http://purl.obolibrary.org/obo/MONDO_0002805 hidradenoma 'hidradenoma' SubClassOf 'sweat gland adenoma' 'hidradenoma' SubClassOf 'sweat gland adenoma' http://www.orpha.net/ORDO/Orphanet_63446 Acrocapitofemoral dysplasia 'Acrocapitofemoral dysplasia' SubClassOf 'Acromelic dysplasia' 'Acrocapitofemoral dysplasia' SubClassOf 'osteochondrodysplasia' 'Acrocapitofemoral dysplasia' SubClassOf 'Acromelic dysplasia' http://purl.obolibrary.org/obo/MONDO_0014805 Hao-Fountain syndrome 'Hao-Fountain syndrome' SubClassOf 'Rare genetic neurological disorder' 'Hao-Fountain syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 16' 'Hao-Fountain syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 'Hao-Fountain syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016894 http://purl.obolibrary.org/obo/MONDO_0014809 DDX41-related hematologic malignancy predisposition syndrome 'DDX41-related hematologic malignancy predisposition syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' 'DDX41-related hematologic malignancy predisposition syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015356 http://www.orpha.net/ORDO/Orphanet_295203 Congenital vertical talus, bilateral 'Congenital vertical talus, bilateral' SubClassOf 'Congenital vertical talus' 'Congenital vertical talus, bilateral' SubClassOf 'Congenital vertical talus' http://www.orpha.net/ORDO/Orphanet_295201 Congenital vertical talus, unilateral 'Congenital vertical talus, unilateral' SubClassOf 'Congenital vertical talus' 'Congenital vertical talus, unilateral' SubClassOf 'Congenital vertical talus' http://purl.obolibrary.org/obo/MONDO_0014801 even-plus syndrome 'even-plus syndrome' SubClassOf 'Syndromic anorectal malformation' 'even-plus syndrome' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'even-plus syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'even-plus syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015246 'even-plus syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008 'even-plus syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016761 http://www.orpha.net/ORDO/Orphanet_295211 Humero-radial synostosis, bilateral 'Humero-radial synostosis, bilateral' SubClassOf 'Humero-radial synostosis' 'Humero-radial synostosis, bilateral' SubClassOf 'Humero-radial synostosis' http://purl.obolibrary.org/obo/MONDO_0014813 hypomyelinating leukodystrophy 13 'hypomyelinating leukodystrophy 13' SubClassOf 'Leukodystrophy' 'hypomyelinating leukodystrophy 13' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019046 http://www.orpha.net/ORDO/Orphanet_295215 Humero-ulnar synostosis, bilateral 'Humero-ulnar synostosis, bilateral' SubClassOf 'Humero-ulnar synostosis' 'Humero-ulnar synostosis, bilateral' SubClassOf 'Humero-ulnar synostosis' http://www.orpha.net/ORDO/Orphanet_295213 Humero-ulnar synostosis, unilateral 'Humero-ulnar synostosis, unilateral' SubClassOf 'Humero-ulnar synostosis' 'Humero-ulnar synostosis, unilateral' SubClassOf 'Humero-ulnar synostosis' http://www.orpha.net/ORDO/Orphanet_75497 X-linked Ehlers-Danlos syndrome 'X-linked Ehlers-Danlos syndrome' SubClassOf 'X-linked disease' 'X-linked Ehlers-Danlos syndrome' SubClassOf 'Ehlers-Danlos syndrome' 'X-linked Ehlers-Danlos syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_75496 Ehlers-Danlos syndrome, progeroid type 'Ehlers-Danlos syndrome, progeroid type' SubClassOf 'has modifier' some 'rare' 'Ehlers-Danlos syndrome, progeroid type' SubClassOf 'Disorder of O-xylosylglycan synthesis' 'Ehlers-Danlos syndrome, progeroid type' SubClassOf 'Congenital disorder of glycosylation-related bone disorder' 'Ehlers-Danlos syndrome, progeroid type' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, progeroid type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020066 'Ehlers-Danlos syndrome, progeroid type' SubClassOf 'Disorder of O-xylosylglycan synthesis' 'Ehlers-Danlos syndrome, progeroid type' SubClassOf 'Congenital disorder of glycosylation-related bone disorder' http://www.orpha.net/ORDO/Orphanet_295207 Humero-radio-ulnar synostosis, bilateral 'Humero-radio-ulnar synostosis, bilateral' SubClassOf 'Humero-radio-ulnar synostosis' 'Humero-radio-ulnar synostosis, bilateral' SubClassOf 'Humero-radio-ulnar synostosis' http://www.orpha.net/ORDO/Orphanet_295205 Humero-radio-ulnar synostosis, unilateral 'Humero-radio-ulnar synostosis, unilateral' SubClassOf 'Humero-radio-ulnar synostosis' 'Humero-radio-ulnar synostosis, unilateral' SubClassOf 'Humero-radio-ulnar synostosis' http://www.orpha.net/ORDO/Orphanet_295209 Humero-radial synostosis, unilateral 'Humero-radial synostosis, unilateral' SubClassOf 'Humero-radial synostosis' 'Humero-radial synostosis, unilateral' SubClassOf 'Humero-radial synostosis' http://purl.obolibrary.org/obo/MONDO_0002836 urethra transitional cell carcinoma 'urethra transitional cell carcinoma' SubClassOf 'carcinoma of urethra' 'urethra transitional cell carcinoma' SubClassOf 'carcinoma of urethra' http://purl.obolibrary.org/obo/MONDO_0002837 sarcomatoid transitional cell carcinoma 'sarcomatoid transitional cell carcinoma' SubClassOf 'Sarcomatoid Carcinoma' 'sarcomatoid transitional cell carcinoma' SubClassOf 'Transitional Cell Carcinoma' 'sarcomatoid transitional cell carcinoma' SubClassOf 'Sarcomatoid Carcinoma' 'sarcomatoid transitional cell carcinoma' SubClassOf 'Transitional Cell Carcinoma' http://www.orpha.net/ORDO/Orphanet_295221 Madelung deformity, unilateral 'Madelung deformity, unilateral' SubClassOf 'Madelung deformity' 'Madelung deformity, unilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295225 Congenital elbow dislocation, unilateral 'Congenital elbow dislocation, unilateral' SubClassOf 'Congenital elbow dislocation' 'Congenital elbow dislocation, unilateral' SubClassOf 'Congenital elbow dislocation' http://www.orpha.net/ORDO/Orphanet_295223 Madelung deformity, bilateral 'Madelung deformity, bilateral' SubClassOf 'Madelung deformity' 'Madelung deformity, bilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295219 Radio-ulnar synostosis, bilateral 'Radio-ulnar synostosis, bilateral' SubClassOf 'congenital radioulnar synostosis' 'Radio-ulnar synostosis, bilateral' SubClassOf 'Radio-ulnar synostosis' 'Radio-ulnar synostosis, bilateral' SubClassOf 'congenital radioulnar synostosis' http://www.orpha.net/ORDO/Orphanet_295217 Radio-ulnar synostosis, unilateral 'Radio-ulnar synostosis, unilateral' SubClassOf 'congenital radioulnar synostosis' 'Radio-ulnar synostosis, unilateral' SubClassOf 'Radio-ulnar synostosis' 'Radio-ulnar synostosis, unilateral' SubClassOf 'congenital radioulnar synostosis' http://www.orpha.net/ORDO/Orphanet_99413 Turner syndrome due to structural X chromosome anomalies 'Turner syndrome due to structural X chromosome anomalies' SubClassOf 'Turner syndrome' 'Turner syndrome due to structural X chromosome anomalies' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0014821 complex lethal osteochondrodysplasia 'complex lethal osteochondrodysplasia' SubClassOf 'Primary bone dysplasia' 'complex lethal osteochondrodysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018230 http://purl.obolibrary.org/obo/MONDO_0014820 mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) 'mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)' SubClassOf 'Mitochondrial DNA depletion syndrome' 'mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018158 http://purl.obolibrary.org/obo/MONDO_0002848 skeletal muscle neoplasm 'skeletal muscle neoplasm' SubClassOf 'Genetic skeletal muscle disease' 'skeletal muscle neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020120 http://www.orpha.net/ORDO/Orphanet_295232 Congenital genu flexum 'Congenital genu flexum' SubClassOf 'Congenital knee dislocation' 'Congenital genu flexum' SubClassOf 'Congenital knee dislocation' http://www.orpha.net/ORDO/Orphanet_295237 Congenital patella dislocation, bilateral 'Congenital patella dislocation, bilateral' SubClassOf 'Congenital patella dislocation' 'Congenital patella dislocation, bilateral' SubClassOf 'Congenital patella dislocation' http://www.orpha.net/ORDO/Orphanet_295234 Congenital patella dislocation, unilateral 'Congenital patella dislocation, unilateral' SubClassOf 'Congenital patella dislocation' 'Congenital patella dislocation, unilateral' SubClassOf 'Congenital patella dislocation' http://www.orpha.net/ORDO/Orphanet_295229 Congenital genu recurvatum 'Congenital genu recurvatum' SubClassOf 'Congenital knee dislocation' 'Congenital genu recurvatum' SubClassOf 'Congenital knee dislocation' http://www.orpha.net/ORDO/Orphanet_295227 Congenital elbow dislocation, bilateral 'Congenital elbow dislocation, bilateral' SubClassOf 'Congenital elbow dislocation' 'Congenital elbow dislocation, bilateral' SubClassOf 'Congenital elbow dislocation' http://www.orpha.net/ORDO/Orphanet_261866 Partial deletion of the short arm of chromosome 2 'Partial deletion of the short arm of chromosome 2' SubClassOf 'Partial deletion of chromosome 2' 'Partial deletion of the short arm of chromosome 2' SubClassOf 'Partial deletion of chromosome 2' http://purl.obolibrary.org/obo/MONDO_0700091 ring chromosome disorder 'ring chromosome disorder' SubClassOf 'Chromosomal anomaly' 'ring chromosome disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019040 http://purl.obolibrary.org/obo/MONDO_0014842 intellectual disability, autosomal dominant 41 'intellectual disability, autosomal dominant 41' SubClassOf 'Autosomal dominant non-syndromic intellectual disability' 'intellectual disability, autosomal dominant 41' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015802 http://purl.obolibrary.org/obo/MONDO_0700087 Usher syndrome type 1B 'Usher syndrome type 1B' SubClassOf 'Usher syndrome type 1' 'Usher syndrome type 1B' SubClassOf http://purl.obolibrary.org/obo/MONDO_0010168 http://purl.obolibrary.org/obo/MONDO_0700086 uniparental disomy 'uniparental disomy' SubClassOf 'Chromosomal anomaly' 'uniparental disomy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019040 http://purl.obolibrary.org/obo/MONDO_0000209 prenatal-onset spinal muscular atrophy with congenital bone fractures 'prenatal-onset spinal muscular atrophy with congenital bone fractures' SubClassOf 'Arthrogryposis multiplex congenita' 'prenatal-onset spinal muscular atrophy with congenital bone fractures' SubClassOf 'Genetic motor neuron disease' 'prenatal-onset spinal muscular atrophy with congenital bone fractures' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024257 'prenatal-onset spinal muscular atrophy with congenital bone fractures' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015168 http://purl.obolibrary.org/obo/MONDO_0000210 thiopurine metabolic disease 'thiopurine metabolic disease' SubClassOf 'Inborn errors of metabolism' 'thiopurine metabolic disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019052 http://purl.obolibrary.org/obo/MONDO_0700084 myopathy caused by variation in GMPPB 'myopathy caused by variation in GMPPB' SubClassOf 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' 'myopathy caused by variation in GMPPB' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016155 http://www.orpha.net/ORDO/Orphanet_261857 Partial deletion of the short arm of chromosome 1 'Partial deletion of the short arm of chromosome 1' SubClassOf 'Partial deletion of chromosome 1' 'Partial deletion of the short arm of chromosome 1' SubClassOf 'Partial deletion of chromosome 1' http://purl.obolibrary.org/obo/MONDO_0000214 hypermanganesemia with dystonia 'hypermanganesemia with dystonia' SubClassOf 'Inborn errors of metabolism' 'hypermanganesemia with dystonia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019052 http://purl.obolibrary.org/obo/MONDO_0002879 uterine body mixed cancer 'uterine body mixed cancer' SubClassOf 'Malignant Mixed Neoplasm' 'uterine body mixed cancer' SubClassOf 'uterine corpus mixed epithelial and mesenchymal neoplasm' 'uterine body mixed cancer' SubClassOf 'Malignant Mixed Neoplasm' 'uterine body mixed cancer' SubClassOf 'uterine corpus mixed epithelial and mesenchymal neoplasm' http://purl.obolibrary.org/obo/MONDO_0700075 congenital muscular dystrophy caused by variation in POMGNT2 'congenital muscular dystrophy caused by variation in POMGNT2' SubClassOf 'Congenital muscular dystrophy' 'congenital muscular dystrophy caused by variation in POMGNT2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019950 http://purl.obolibrary.org/obo/MONDO_0700071 myopathy caused by variation in POMT2 'myopathy caused by variation in POMT2' SubClassOf 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' 'myopathy caused by variation in POMT2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016155 http://www.orpha.net/ORDO/Orphanet_261846 Partial deletion of chromosome 20 'Partial deletion of chromosome 20' SubClassOf 'syndrome caused by partial chromosomal deletion' 'Partial deletion of chromosome 20' SubClassOf 'Partial autosomal monosomy' 'Partial deletion of chromosome 20' SubClassOf 'chromosome 20 disorder' 'Partial deletion of chromosome 20' SubClassOf 'Partial autosomal monosomy' http://purl.obolibrary.org/obo/MONDO_0700070 myopathy caused by variation in POMT1 'myopathy caused by variation in POMT1' SubClassOf 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' 'myopathy caused by variation in POMT1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016155 http://purl.obolibrary.org/obo/MONDO_0002884 nail disorder 'nail disorder' SubClassOf 'limb disorder' http://www.orpha.net/ORDO/Orphanet_329284 Beta-propeller protein-associated neurodegeneration 'Beta-propeller protein-associated neurodegeneration' SubClassOf 'Neurodegeneration with brain iron accumulation' 'Beta-propeller protein-associated neurodegeneration' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0700069 myopathy caused by variation in POMGNT2 'myopathy caused by variation in POMGNT2' SubClassOf 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' 'myopathy caused by variation in POMGNT2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016155 http://purl.obolibrary.org/obo/MONDO_0700068 myopathy caused by variation in POMGNT1 'myopathy caused by variation in POMGNT1' SubClassOf 'Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase' 'myopathy caused by variation in POMGNT1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016182 http://purl.obolibrary.org/obo/MONDO_0700064 aneuploidy 'aneuploidy' SubClassOf 'Chromosomal anomaly' 'aneuploidy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019040 http://purl.obolibrary.org/obo/MONDO_0700067 myopathy caused by variation in FKTN 'myopathy caused by variation in FKTN' SubClassOf 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' 'myopathy caused by variation in FKTN' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016155 http://purl.obolibrary.org/obo/MONDO_0700066 myopathy caused by variation in FKRP 'myopathy caused by variation in FKRP' SubClassOf 'Qualitative or quantitative defects of fukutin' 'myopathy caused by variation in FKRP' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016157 http://purl.obolibrary.org/obo/MONDO_0002898 skin cancer 'skin cancer' SubClassOf 'skin neoplasm' 'skin cancer' SubClassOf 'skin neoplasm' http://www.orpha.net/ORDO/Orphanet_261836 Partial deletion of chromosome 18 'Partial deletion of chromosome 18' SubClassOf 'Partial autosomal monosomy' 'Partial deletion of chromosome 18' SubClassOf 'chromosome 18 disorder' 'Partial deletion of chromosome 18' SubClassOf 'syndrome caused by partial chromosomal deletion' 'Partial deletion of chromosome 18' SubClassOf 'Partial autosomal monosomy' http://www.orpha.net/ORDO/Orphanet_261831 Partial deletion of chromosome 17 'Partial deletion of chromosome 17' SubClassOf 'Partial autosomal monosomy' 'Partial deletion of chromosome 17' SubClassOf 'chromosome 17 disorder' 'Partial deletion of chromosome 17' SubClassOf 'syndrome caused by partial chromosomal deletion' 'Partial deletion of chromosome 17' SubClassOf 'Partial autosomal monosomy' http://www.orpha.net/ORDO/Orphanet_261841 Partial deletion of chromosome 19 'Partial deletion of chromosome 19' SubClassOf 'chromosome 19 disorder' 'Partial deletion of chromosome 19' SubClassOf 'Partial autosomal monosomy' 'Partial deletion of chromosome 19' SubClassOf 'syndrome caused by partial chromosomal deletion' 'Partial deletion of chromosome 19' SubClassOf 'Partial autosomal monosomy' http://www.ebi.ac.uk/efo/EFO_0007404 opisthorchiasis 'opisthorchiasis' SubClassOf 'Helminthiasis' 'opisthorchiasis' SubClassOf 'Helminthiasis' http://purl.obolibrary.org/obo/MONDO_0014885 Hermansky-Pudlak syndrome 10 'Hermansky-Pudlak syndrome 10' SubClassOf 'Hermansky-Pudlak syndrome' 'Hermansky-Pudlak syndrome 10' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019312 http://purl.obolibrary.org/obo/MONDO_0014889 striatonigral degeneration, childhood-onset 'striatonigral degeneration, childhood-onset' SubClassOf 'Rare genetic dystonia' 'striatonigral degeneration, childhood-onset' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044807 http://purl.obolibrary.org/obo/MONDO_0000254 cutaneous mycosis 'cutaneous mycosis' SubClassOf 'fungal infectious disease' 'cutaneous mycosis' SubClassOf 'fungal infectious disease' http://purl.obolibrary.org/obo/MONDO_0000256 systemic mycosis 'systemic mycosis' SubClassOf 'fungal infectious disease' 'systemic mycosis' SubClassOf 'fungal infectious disease' http://www.orpha.net/ORDO/Orphanet_329252 Spondylocostal dysostosis - hypospadias - intellectual disability 'Spondylocostal dysostosis - hypospadias - intellectual disability' SubClassOf 'Dysostosis of genetic origin' 'Spondylocostal dysostosis - hypospadias - intellectual disability' SubClassOf 'syndromic intellectual disability' 'Spondylocostal dysostosis - hypospadias - intellectual disability' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Spondylocostal dysostosis - hypospadias - intellectual disability' SubClassOf 'congenital nervous system disorder' 'Spondylocostal dysostosis - hypospadias - intellectual disability' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014893 Okur-Chung neurodevelopmental syndrome 'Okur-Chung neurodevelopmental syndrome' SubClassOf 'Rare genetic neurological disorder' 'Okur-Chung neurodevelopmental syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://purl.obolibrary.org/obo/MONDO_0012237 nemaline myopathy 6 'nemaline myopathy 6' SubClassOf 'Childhood-onset nemaline myopathy' 'nemaline myopathy 6' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015738 http://www.orpha.net/ORDO/Orphanet_329258 Autosomal dominant Charcot-Marie-Tooth disease type 2Q 'Autosomal dominant Charcot-Marie-Tooth disease type 2Q' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'Autosomal dominant Charcot-Marie-Tooth disease type 2Q' SubClassOf 'Autosomal dominant Charcot-Marie-Tooth disease type 2' 'Autosomal dominant Charcot-Marie-Tooth disease type 2Q' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://purl.obolibrary.org/obo/HP_0005268 Spontaneous abortion 'Spontaneous abortion' SubClassOf 'Abnormal delivery' 'Spontaneous abortion' SubClassOf http://purl.obolibrary.org/obo/HP_0034241 http://purl.obolibrary.org/obo/MONDO_0700031 mosaic trisomy 18 'mosaic trisomy 18' EquivalentTo 'Trisomy 18' and ('has modifier' some 'mosaic') 'mosaic trisomy 18' SubClassOf 'Trisomy 18' 'mosaic trisomy 18' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018071 'mosaic trisomy 18' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0018071 and ('has modifier' some 'mosaic') http://purl.obolibrary.org/obo/MONDO_0700034 mosaic trisomy 13 'mosaic trisomy 13' EquivalentTo 'Trisomy 13' and ('has modifier' some 'mosaic') 'mosaic trisomy 13' SubClassOf 'Trisomy 13' 'mosaic trisomy 13' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018068 'mosaic trisomy 13' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0018068 and ('has modifier' some 'mosaic') http://purl.obolibrary.org/obo/MONDO_0000265 aspiration pneumonia 'aspiration pneumonia' SubClassOf 'pneumonia' http://www.ebi.ac.uk/efo/EFO_0007426 pericardial tuberculosis 'pericardial tuberculosis' SubClassOf 'Tuberculosis' http://www.orpha.net/ORDO/Orphanet_329242 Congenital chronic diarrhea with protein-losing enteropathy 'Congenital chronic diarrhea with protein-losing enteropathy' SubClassOf 'Genetic intractable diarrhea of infancy' 'Congenital chronic diarrhea with protein-losing enteropathy' SubClassOf 'congenital diarrhea' 'Congenital chronic diarrhea with protein-losing enteropathy' SubClassOf 'Genetic intractable diarrhea of infancy' http://www.ebi.ac.uk/efo/EFO_0007428 periodic limb movement disorder 'periodic limb movement disorder' SubClassOf 'sleep-wake disorder' 'periodic limb movement disorder' SubClassOf 'sleep-wake disorder' http://www.orpha.net/ORDO/Orphanet_329249 Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency 'Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency' SubClassOf 'Genetic non-syndromic obesity' 'Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency' SubClassOf 'Genetic non-syndromic obesity' http://purl.obolibrary.org/obo/MONDO_0700028 chromosome Y disorder 'chromosome Y disorder' SubClassOf 'Gonosome anomaly' 'chromosome Y disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020058 http://purl.obolibrary.org/obo/MONDO_0700025 chromosome 20 disorder 'chromosome 20 disorder' SubClassOf 'Autosomal anomaly' 'chromosome 20 disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020049 http://purl.obolibrary.org/obo/MONDO_0700024 chromosome 19 disorder 'chromosome 19 disorder' SubClassOf 'Autosomal anomaly' 'chromosome 19 disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020049 http://purl.obolibrary.org/obo/MONDO_0700027 chromosome X disorder 'chromosome X disorder' SubClassOf 'Gonosome anomaly' 'chromosome X disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020058 http://purl.obolibrary.org/obo/MONDO_0700026 chromosome 22 disorder 'chromosome 22 disorder' SubClassOf 'Autosomal anomaly' 'chromosome 22 disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020049 http://www.orpha.net/ORDO/Orphanet_261893 Partial deletion of the short arm of chromosome 5 'Partial deletion of the short arm of chromosome 5' SubClassOf 'Partial deletion of chromosome 5' 'Partial deletion of the short arm of chromosome 5' SubClassOf 'Partial deletion of chromosome 5' http://purl.obolibrary.org/obo/MONDO_0700021 chromosome 14 disorder 'chromosome 14 disorder' SubClassOf 'Autosomal anomaly' 'chromosome 14 disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020049 http://purl.obolibrary.org/obo/MONDO_0700020 chromosome 13 disorder 'chromosome 13 disorder' SubClassOf 'Autosomal anomaly' 'chromosome 13 disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020049 http://purl.obolibrary.org/obo/MONDO_0700023 chromosome 16 disorder 'chromosome 16 disorder' SubClassOf 'Autosomal anomaly' 'chromosome 16 disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020049 http://purl.obolibrary.org/obo/MONDO_0700022 chromosome 15 disorder 'chromosome 15 disorder' SubClassOf 'Autosomal anomaly' 'chromosome 15 disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020049 http://www.orpha.net/ORDO/Orphanet_261875 Partial deletion of the short arm of chromosome 3 'Partial deletion of the short arm of chromosome 3' SubClassOf 'Partial deletion of chromosome 3' 'Partial deletion of the short arm of chromosome 3' SubClassOf 'Partial deletion of chromosome 3' http://www.ebi.ac.uk/efo/EFO_0007418 paragonimiasis 'paragonimiasis' SubClassOf 'Helminthiasis' 'paragonimiasis' SubClassOf 'Helminthiasis' http://purl.obolibrary.org/obo/MONDO_0700018 chromosome 11 disorder 'chromosome 11 disorder' SubClassOf 'Autosomal anomaly' 'chromosome 11 disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020049 http://purl.obolibrary.org/obo/MONDO_0700017 chromosome 10 disorder 'chromosome 10 disorder' SubClassOf 'Autosomal anomaly' 'chromosome 10 disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020049 http://www.orpha.net/ORDO/Orphanet_329235 X-linked central congenital hypothyroidism with late-onset testicular enlargement 'X-linked central congenital hypothyroidism with late-onset testicular enlargement' SubClassOf 'Central congenital hypothyroidism' 'X-linked central congenital hypothyroidism with late-onset testicular enlargement' SubClassOf 'X-linked disease' 'X-linked central congenital hypothyroidism with late-onset testicular enlargement' SubClassOf 'Syndromic hypothyroidism' 'X-linked central congenital hypothyroidism with late-onset testicular enlargement' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0700019 chromosome 12 disorder 'chromosome 12 disorder' SubClassOf 'Autosomal anomaly' 'chromosome 12 disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020049 http://purl.obolibrary.org/obo/MONDO_0700014 chromosome 7 disorder 'chromosome 7 disorder' SubClassOf 'Autosomal anomaly' 'chromosome 7 disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020049 http://purl.obolibrary.org/obo/MONDO_0700013 chromosome 6 disorder 'chromosome 6 disorder' SubClassOf 'Autosomal anomaly' 'chromosome 6 disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020049 http://purl.obolibrary.org/obo/MONDO_0700016 chromosome 9 disorder 'chromosome 9 disorder' SubClassOf 'Autosomal anomaly' 'chromosome 9 disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020049 http://purl.obolibrary.org/obo/MONDO_0700015 chromosome 8 disorder 'chromosome 8 disorder' SubClassOf 'Autosomal anomaly' 'chromosome 8 disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020049 http://purl.obolibrary.org/obo/MONDO_0700010 chromosome 3 disorder 'chromosome 3 disorder' SubClassOf 'Autosomal anomaly' 'chromosome 3 disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020049 http://purl.obolibrary.org/obo/MONDO_0700012 chromosome 5 disorder 'chromosome 5 disorder' SubClassOf 'Autosomal anomaly' 'chromosome 5 disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020049 http://purl.obolibrary.org/obo/MONDO_0700011 chromosome 4 disorder 'chromosome 4 disorder' SubClassOf 'Autosomal anomaly' 'chromosome 4 disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020049 http://www.orpha.net/ORDO/Orphanet_199318 15q13.3 microdeletion syndrome '15q13.3 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 15' '15q13.3 microdeletion syndrome' SubClassOf 'epilepsy' '15q13.3 microdeletion syndrome' SubClassOf 'syndromic intellectual disability' '15q13.3 microdeletion syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '15q13.3 microdeletion syndrome' SubClassOf 'Rare genetic neurological disorder' '15q13.3 microdeletion syndrome' SubClassOf 'congenital nervous system disorder' '15q13.3 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 15' '15q13.3 microdeletion syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0000045 hypothyroidism, congenital, nongoitrous 'hypothyroidism, congenital, nongoitrous' SubClassOf 'Congenital hypothyroidism' 'hypothyroidism, congenital, nongoitrous' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018612 'hypothyroidism, congenital, nongoitrous' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0000044 hereditary hypophosphatemic rickets 'hereditary hypophosphatemic rickets' SubClassOf 'Genetic renal tubular disease' 'hereditary hypophosphatemic rickets' SubClassOf 'rickets' 'hereditary hypophosphatemic rickets' EquivalentTo 'Hypophosphatemic rickets' and ('has modifier' some 'inherited') 'hereditary hypophosphatemic rickets' SubClassOf 'Disorders of vitamin D metabolism' 'hereditary hypophosphatemic rickets' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0024300 and ('has modifier' some 'inherited') 'hereditary hypophosphatemic rickets' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024300 'hereditary hypophosphatemic rickets' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0007323 inclusion body myositis 'inclusion body myositis' SubClassOf 'myositis' 'inclusion body myositis' SubClassOf 'myositis' http://www.ebi.ac.uk/efo/EFO_0007321 hypopharynx cancer 'hypopharynx cancer' SubClassOf 'pharynx cancer' 'hypopharynx cancer' SubClassOf 'pharynx cancer' http://www.orpha.net/ORDO/Orphanet_209203 Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase - 'Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' http://www.ebi.ac.uk/efo/EFO_0007329 interdigitating dendritic cell sarcoma 'interdigitating dendritic cell sarcoma' SubClassOf 'dendritic cell sarcoma' 'interdigitating dendritic cell sarcoma' SubClassOf 'dendritic cell sarcoma' http://purl.obolibrary.org/obo/MONDO_0014689 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome 'Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome' SubClassOf 'Congenital myopathy' 'Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome' SubClassOf 'Dysostosis of genetic origin' 'Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018454 'Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019952 http://purl.obolibrary.org/obo/MONDO_0700009 chromosome 2 disorder 'chromosome 2 disorder' SubClassOf 'Autosomal anomaly' 'chromosome 2 disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020049 http://purl.obolibrary.org/obo/MONDO_0700008 chromosome 1 disorder 'chromosome 1 disorder' SubClassOf 'Autosomal anomaly' 'chromosome 1 disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020049 http://purl.obolibrary.org/obo/MONDO_0700002 ATP1A3-associated neurological disorder 'ATP1A3-associated neurological disorder' SubClassOf 'Rare genetic neurological disorder' 'ATP1A3-associated neurological disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.orpha.net/ORDO/Orphanet_199326 Isolated autosomal dominant hypomagnesemia, Glaudemans type 'Isolated autosomal dominant hypomagnesemia, Glaudemans type' SubClassOf 'Familial primary hypomagnesemia with normocalcuria' 'Isolated autosomal dominant hypomagnesemia, Glaudemans type' SubClassOf 'Familial primary hypomagnesemia with normocalcuria' http://www.ebi.ac.uk/efo/EFO_0007317 hymenolepiasis 'hymenolepiasis' SubClassOf 'Helminthiasis' 'hymenolepiasis' SubClassOf 'Helminthiasis' http://purl.obolibrary.org/obo/MONDO_0000050 isolated congenital growth hormone deficiency 'isolated congenital growth hormone deficiency' SubClassOf 'Combined pituitary hormone deficiencies, genetic forms' 'isolated congenital growth hormone deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0013099 http://www.ebi.ac.uk/efo/EFO_0007318 hyperinsulinemic hypoglycemia 'hyperinsulinemic hypoglycemia' SubClassOf 'Disorder of carbohydrate metabolism' 'hyperinsulinemic hypoglycemia' SubClassOf 'Disorder of carbohydrate metabolism' 'hyperinsulinemic hypoglycemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019214 http://www.orpha.net/ORDO/Orphanet_199310 Tetragametic chimerism 'Tetragametic chimerism' SubClassOf 'X and Y chromosomal anomaly' 'Tetragametic chimerism' SubClassOf 'Sex chromosome disorder of sex development' 'Tetragametic chimerism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019040 'Tetragametic chimerism' SubClassOf 'Sex chromosome disorder of sex development' http://www.orpha.net/ORDO/Orphanet_199315 Familial clubfoot with or without associated lower limb anomalies 'Familial clubfoot with or without associated lower limb anomalies' SubClassOf 'Dysostosis of genetic origin' 'Familial clubfoot with or without associated lower limb anomalies' SubClassOf 'congenital limb malformation' http://www.orpha.net/ORDO/Orphanet_209224 Qualitative or quantitative defects of myotilin 'Qualitative or quantitative defects of myotilin' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of myotilin' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' http://purl.obolibrary.org/obo/MONDO_0000078 acrocephalopolysyndactyly 'acrocephalopolysyndactyly' SubClassOf 'Acrocephalosyndactyly' 'acrocephalopolysyndactyly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019796 http://www.ebi.ac.uk/efo/EFO_0007335 Kluver-Bucy syndrome 'Kluver-Bucy syndrome' SubClassOf 'syndromic disease' 'Kluver-Bucy syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0007339 late congenital syphilis 'late congenital syphilis' SubClassOf 'congenital syphilis' 'late congenital syphilis' SubClassOf 'congenital syphilis' http://purl.obolibrary.org/obo/MONDO_0000070 mycobacterium tuberculosis, susceptibility 'mycobacterium tuberculosis, susceptibility' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'Tuberculosis') 'mycobacterium tuberculosis, susceptibility' SubClassOf 'Genetic susceptibility to infections due to particular pathogens' 'mycobacterium tuberculosis, susceptibility' SubClassOf 'predisposes towards' some 'Tuberculosis' 'mycobacterium tuberculosis, susceptibility' SubClassOf 'predisposes towards' some http://purl.obolibrary.org/obo/MONDO_0018076 'mycobacterium tuberculosis, susceptibility' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some http://purl.obolibrary.org/obo/MONDO_0018076) 'mycobacterium tuberculosis, susceptibility' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015979 http://www.ebi.ac.uk/efo/EFO_0007337 laryngeal tuberculosis 'laryngeal tuberculosis' SubClassOf 'Tuberculosis' http://purl.obolibrary.org/obo/MONDO_0012057 legionnaire disease, susceptibility to 'legionnaire disease, susceptibility to' SubClassOf 'Genetic susceptibility to infections due to particular pathogens' 'legionnaire disease, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015979 http://www.orpha.net/ORDO/Orphanet_261826 Partial deletion of chromosome 16 'Partial deletion of chromosome 16' SubClassOf 'chromosome 16 disorder' 'Partial deletion of chromosome 16' SubClassOf 'Partial autosomal monosomy' 'Partial deletion of chromosome 16' SubClassOf 'syndrome caused by partial chromosomal deletion' 'Partial deletion of chromosome 16' SubClassOf 'Partial autosomal monosomy' http://www.ebi.ac.uk/efo/EFO_0007368 miliary tuberculosis 'miliary tuberculosis' SubClassOf 'Tuberculosis' http://www.orpha.net/ORDO/Orphanet_261821 Partial deletion of the long arm of chromosome 12 'Partial deletion of the long arm of chromosome 12' SubClassOf 'Partial deletion of chromosome 12' 'Partial deletion of the long arm of chromosome 12' SubClassOf 'Partial deletion of chromosome 12' http://www.orpha.net/ORDO/Orphanet_165985 Diazoxide-sensitive diffuse hyperinsulinism 'Diazoxide-sensitive diffuse hyperinsulinism' SubClassOf 'Congenital isolated hyperinsulinism' 'Diazoxide-sensitive diffuse hyperinsulinism' SubClassOf 'Congenital isolated hyperinsulinism' http://www.orpha.net/ORDO/Orphanet_261816 Partial deletion of chromosome 11 'Partial deletion of chromosome 11' SubClassOf 'chromosome 11 disorder' 'Partial deletion of chromosome 11' SubClassOf 'syndrome caused by partial chromosomal deletion' 'Partial deletion of chromosome 11' SubClassOf 'Partial autosomal monosomy' 'Partial deletion of chromosome 11' SubClassOf 'Partial autosomal monosomy' http://www.ebi.ac.uk/efo/EFO_0007350 lymph node tuberculosis 'lymph node tuberculosis' SubClassOf 'Tuberculosis' http://www.ebi.ac.uk/efo/EFO_0007357 mansonelliasis 'mansonelliasis' SubClassOf 'filariasis' 'mansonelliasis' SubClassOf 'filariasis' http://www.orpha.net/ORDO/Orphanet_261811 Partial deletion of chromosome 10 'Partial deletion of chromosome 10' SubClassOf 'chromosome 10 disorder' 'Partial deletion of chromosome 10' SubClassOf 'Partial autosomal monosomy' 'Partial deletion of chromosome 10' SubClassOf 'syndrome caused by partial chromosomal deletion' 'Partial deletion of chromosome 10' SubClassOf 'Partial autosomal monosomy' http://www.ebi.ac.uk/efo/EFO_0007355 male reproductive organ cancer 'male reproductive organ cancer' SubClassOf 'male reproductive system neoplasm' 'male reproductive organ cancer' SubClassOf 'reproductive system cancer' 'male reproductive organ cancer' SubClassOf 'male reproductive system neoplasm' 'male reproductive organ cancer' SubClassOf 'reproductive system cancer' http://purl.obolibrary.org/obo/MONDO_0012073 ribose-5-P isomerase deficiency 'ribose-5-P isomerase deficiency' SubClassOf 'Leukodystrophy' 'ribose-5-P isomerase deficiency' SubClassOf 'Disorder of pentose phosphate metabolism' 'ribose-5-P isomerase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019231 'ribose-5-P isomerase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019046 http://www.orpha.net/ORDO/Orphanet_261801 Partial deletion of chromosome 8 'Partial deletion of chromosome 8' SubClassOf 'syndrome caused by partial chromosomal deletion' 'Partial deletion of chromosome 8' SubClassOf 'Partial autosomal monosomy' 'Partial deletion of chromosome 8' SubClassOf 'chromosome 8 disorder' 'Partial deletion of chromosome 8' SubClassOf 'Partial autosomal monosomy' http://www.orpha.net/ORDO/Orphanet_261806 Partial deletion of chromosome 9 'Partial deletion of chromosome 9' SubClassOf 'Partial autosomal monosomy' 'Partial deletion of chromosome 9' SubClassOf 'syndrome caused by partial chromosomal deletion' 'Partial deletion of chromosome 9' SubClassOf 'chromosome 9 disorder' 'Partial deletion of chromosome 9' SubClassOf 'Partial autosomal monosomy' http://purl.obolibrary.org/obo/MONDO_0012088 primary ciliary dyskinesia 5 'primary ciliary dyskinesia 5' SubClassOf 'Primary ciliary dyskinesia' 'primary ciliary dyskinesia 5' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016575 http://www.ebi.ac.uk/efo/EFO_0007392 nervous system cancer 'nervous system cancer' SubClassOf 'cancer' 'nervous system cancer' SubClassOf 'nervous system neoplasm' 'nervous system cancer' SubClassOf 'cancer' 'nervous system cancer' SubClassOf 'nervous system neoplasm' http://www.ebi.ac.uk/efo/EFO_0007390 necatoriasis 'necatoriasis' SubClassOf 'Helminthiasis' 'necatoriasis' SubClassOf 'Helminthiasis' http://www.ebi.ac.uk/efo/EFO_0007379 mucocutaneous Leishmaniasis 'mucocutaneous Leishmaniasis' SubClassOf 'Leishmaniasis' 'mucocutaneous Leishmaniasis' SubClassOf 'Leishmaniasis' http://www.ebi.ac.uk/efo/EFO_0007378 mucinous cystadenocarcinoma 'mucinous cystadenocarcinoma' SubClassOf 'mucinous carcinoma' 'mucinous cystadenocarcinoma' SubClassOf 'cystadenocarcinoma' 'mucinous cystadenocarcinoma' SubClassOf 'mucinous carcinoma' 'mucinous cystadenocarcinoma' SubClassOf 'cystadenocarcinoma' http://www.orpha.net/ORDO/Orphanet_165991 Exercise-induced hyperinsulinism 'Exercise-induced hyperinsulinism' SubClassOf 'Disorder of carbohydrate absorption and transport' 'Exercise-induced hyperinsulinism' SubClassOf 'Diazoxide-sensitive diffuse hyperinsulinism' 'Exercise-induced hyperinsulinism' SubClassOf 'Disorder of carbohydrate absorption and transport' 'Exercise-induced hyperinsulinism' SubClassOf 'Diazoxide-sensitive diffuse hyperinsulinism' http://www.orpha.net/ORDO/Orphanet_165994 Selective pituitary resistance to thyroid hormone 'Selective pituitary resistance to thyroid hormone' SubClassOf 'has modifier' some 'rare' 'Selective pituitary resistance to thyroid hormone' SubClassOf 'Hyperthyroidism' 'Selective pituitary resistance to thyroid hormone' SubClassOf 'resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta' http://www.orpha.net/ORDO/Orphanet_165988 Diazoxide-resistant diffuse hyperinsulinism 'Diazoxide-resistant diffuse hyperinsulinism' SubClassOf 'Diazoxide-resistant hyperinsulinism' 'Diazoxide-resistant diffuse hyperinsulinism' SubClassOf 'Diazoxide-resistant hyperinsulinism' http://www.ebi.ac.uk/efo/EFO_0007382 multiple chemical sensitivity 'multiple chemical sensitivity' SubClassOf 'syndromic disease' 'multiple chemical sensitivity' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0007381 multidrug-resistant tuberculosis 'multidrug-resistant tuberculosis' SubClassOf 'drug-resistant tuberculosis' 'multidrug-resistant tuberculosis' SubClassOf 'drug-resistant tuberculosis' 'multidrug-resistant tuberculosis' SubClassOf 'Tuberculosis' http://www.orpha.net/ORDO/Orphanet_177926 Symptomatic form of hemophilia A in female carriers 'Symptomatic form of hemophilia A in female carriers' SubClassOf 'Hemophilia A' 'Symptomatic form of hemophilia A in female carriers' SubClassOf 'Hemophilia A' http://www.orpha.net/ORDO/Orphanet_177929 Symptomatic form of hemophilia B in female carriers 'Symptomatic form of hemophilia B in female carriers' SubClassOf 'Hemophilia B' 'Symptomatic form of hemophilia B in female carriers' SubClassOf 'Hemophilia B' http://www.orpha.net/ORDO/Orphanet_102373 Primary glomerular disease 'Primary glomerular disease' SubClassOf 'glomerular disease' http://www.orpha.net/ORDO/Orphanet_307967 Punctate palmoplantar keratoderma 'Punctate palmoplantar keratoderma' SubClassOf 'Hereditary palmoplantar keratoderma' 'Punctate palmoplantar keratoderma' SubClassOf 'Hereditary palmoplantar keratoderma' 'Punctate palmoplantar keratoderma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019272 http://www.orpha.net/ORDO/Orphanet_177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2' SubClassOf 'Prader-Willi syndrome due to paternal 15q11q13 deletion' 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1' SubClassOf 'Prader-Willi syndrome due to paternal 15q11q13 deletion' 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_177907 Prader-Willi syndrome due to translocation 'Prader-Willi syndrome due to translocation' SubClassOf 'Prader-Willi syndrome' 'Prader-Willi syndrome due to translocation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_307936 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome 'Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome' SubClassOf 'Focal palmoplantar keratoderma' 'Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_177910 Prader-Willi syndrome due to imprinting mutation 'Prader-Willi syndrome due to imprinting mutation' SubClassOf 'Prader-Willi syndrome' 'Prader-Willi syndrome due to imprinting mutation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295163 Postaxial polydactyly type A, unilateral 'Postaxial polydactyly type A, unilateral' SubClassOf 'Postaxial polydactyly type A' 'Postaxial polydactyly type A, unilateral' SubClassOf 'Postaxial polydactyly type A' http://www.orpha.net/ORDO/Orphanet_295161 Polysyndactyly, bilateral 'Polysyndactyly, bilateral' SubClassOf 'Polysyndactyly' 'Polysyndactyly, bilateral' SubClassOf 'Polysyndactyly' http://www.orpha.net/ORDO/Orphanet_295167 Postaxial polydactyly type B, unilateral 'Postaxial polydactyly type B, unilateral' SubClassOf 'Postaxial polydactyly type B' 'Postaxial polydactyly type B, unilateral' SubClassOf 'Postaxial polydactyly type B' http://www.orpha.net/ORDO/Orphanet_295165 Postaxial polydactyly type A, bilateral 'Postaxial polydactyly type A, bilateral' SubClassOf 'Postaxial polydactyly type A' 'Postaxial polydactyly type A, bilateral' SubClassOf 'Postaxial polydactyly type A' http://www.orpha.net/ORDO/Orphanet_295169 Postaxial polydactyly type B, bilateral 'Postaxial polydactyly type B, bilateral' SubClassOf 'Postaxial polydactyly type B' 'Postaxial polydactyly type B, bilateral' SubClassOf 'Postaxial polydactyly type B' http://www.orpha.net/ORDO/Orphanet_89937 Autosomal dominant hypophosphatemic rickets 'Autosomal dominant hypophosphatemic rickets' SubClassOf 'hereditary hypophosphatemic rickets' 'Autosomal dominant hypophosphatemic rickets' SubClassOf 'autosomal dominant disease' http://www.orpha.net/ORDO/Orphanet_89936 X-linked hypophosphatemia 'X-linked hypophosphatemia' SubClassOf 'X-linked dominant disease' 'X-linked hypophosphatemia' SubClassOf 'X-linked hypophosphatemic rickets' 'X-linked hypophosphatemia' SubClassOf 'Hypophosphatemic rickets' http://www.orpha.net/ORDO/Orphanet_89938 Infantile Bartter syndrome with sensorineural deafness 'Infantile Bartter syndrome with sensorineural deafness' SubClassOf 'Bartter syndrome' 'Infantile Bartter syndrome with sensorineural deafness' SubClassOf 'Syndromic genetic deafness' 'Infantile Bartter syndrome with sensorineural deafness' SubClassOf 'Syndromic genetic deafness' 'Infantile Bartter syndrome with sensorineural deafness' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015231 http://www.orpha.net/ORDO/Orphanet_295173 Central polydactyly of fingers, bilateral 'Central polydactyly of fingers, bilateral' SubClassOf 'Central polydactyly of fingers' 'Central polydactyly of fingers, bilateral' SubClassOf 'Central polydactyly of fingers' http://www.orpha.net/ORDO/Orphanet_295171 Central polydactyly of fingers, unilateral 'Central polydactyly of fingers, unilateral' SubClassOf 'Central polydactyly of fingers' 'Central polydactyly of fingers, unilateral' SubClassOf 'Central polydactyly of fingers' http://www.orpha.net/ORDO/Orphanet_295177 Preaxial polydactyly of toes, bilateral 'Preaxial polydactyly of toes, bilateral' SubClassOf 'Preaxial polydactyly of toes' 'Preaxial polydactyly of toes, bilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295175 Preaxial polydactyly of toes, unilateral 'Preaxial polydactyly of toes, unilateral' SubClassOf 'Preaxial polydactyly of toes' 'Preaxial polydactyly of toes, unilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295189 Zygodactyly type 2 'Zygodactyly type 2' SubClassOf 'Syndactyly type 1' 'Zygodactyly type 2' SubClassOf 'Syndactyly type 1' http://www.orpha.net/ORDO/Orphanet_295187 Zygodactyly type 1 'Zygodactyly type 1' SubClassOf 'Syndactyly type 1' 'Zygodactyly type 1' SubClassOf 'Syndactyly type 1' http://www.orpha.net/ORDO/Orphanet_295191 Zygodactyly type 3 'Zygodactyly type 3' SubClassOf 'Syndactyly type 1' 'Zygodactyly type 3' SubClassOf 'Syndactyly type 1' http://www.orpha.net/ORDO/Orphanet_295195 Synpolydactyly type 1 'Synpolydactyly type 1' SubClassOf 'Syndactyly type 2' 'Synpolydactyly type 1' SubClassOf 'non-syndromic synpolydactyly' 'Synpolydactyly type 1' SubClassOf 'Syndactyly type 2' http://www.orpha.net/ORDO/Orphanet_295193 Zygodactyly type 4 'Zygodactyly type 4' SubClassOf 'Syndactyly type 1' 'Zygodactyly type 4' SubClassOf 'Syndactyly type 1' http://www.orpha.net/ORDO/Orphanet_295199 Synpolydactyly type 3 'Synpolydactyly type 3' SubClassOf 'Syndactyly type 2' 'Synpolydactyly type 3' SubClassOf 'non-syndromic synpolydactyly' 'Synpolydactyly type 3' SubClassOf 'Syndactyly type 2' http://www.orpha.net/ORDO/Orphanet_295197 Synpolydactyly type 2 'Synpolydactyly type 2' SubClassOf 'non-syndromic synpolydactyly' 'Synpolydactyly type 2' SubClassOf 'Syndactyly type 2' 'Synpolydactyly type 2' SubClassOf 'Syndactyly type 2' http://www.orpha.net/ORDO/Orphanet_356961 SLC35A2-CDG 'SLC35A2-CDG' SubClassOf 'congenital disorder of glycosylation type II' 'SLC35A2-CDG' SubClassOf 'Congenital disorder of glycosylation with developmental anomaly' 'SLC35A2-CDG' SubClassOf 'Disorder of multiple glycosylation' 'SLC35A2-CDG' SubClassOf 'X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'SLC35A2-CDG' SubClassOf 'congenital nervous system disorder' 'SLC35A2-CDG' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'SLC35A2-CDG' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'SLC35A2-CDG' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_90970 Primary lipodystrophy 'Primary lipodystrophy' SubClassOf 'has modifier' some 'rare' 'Primary lipodystrophy' SubClassOf 'subcutaneous tissue disorder' http://www.orpha.net/ORDO/Orphanet_295122 Split hand, bilateral 'Split hand, bilateral' SubClassOf 'Split hand' 'Split hand, bilateral' SubClassOf 'Split hand' http://www.orpha.net/ORDO/Orphanet_295120 Split hand, unilateral 'Split hand, unilateral' SubClassOf 'Split hand' 'Split hand, unilateral' SubClassOf 'Split hand' http://www.orpha.net/ORDO/Orphanet_295126 Split foot, bilateral 'Split foot, bilateral' SubClassOf 'Split foot' 'Split foot, bilateral' SubClassOf 'Split foot' http://www.orpha.net/ORDO/Orphanet_295124 Split foot, unilateral 'Split foot, unilateral' SubClassOf 'Split foot' 'Split foot, unilateral' SubClassOf 'Split foot' http://www.orpha.net/ORDO/Orphanet_295118 Adactyly of foot, bilateral 'Adactyly of foot, bilateral' SubClassOf 'adactyly of foot' http://www.orpha.net/ORDO/Orphanet_295130 Brachydactyly of fingers, bilateral 'Brachydactyly of fingers, bilateral' SubClassOf 'Brachydactyly of fingers' 'Brachydactyly of fingers, bilateral' SubClassOf 'Brachydactyly of fingers' http://www.orpha.net/ORDO/Orphanet_295134 Brachydactyly of toes, bilateral 'Brachydactyly of toes, bilateral' SubClassOf 'Brachydactyly of toes' 'Brachydactyly of toes, bilateral' SubClassOf 'Brachydactyly of toes' http://www.orpha.net/ORDO/Orphanet_329332 Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome 'Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome' SubClassOf 'congenital nervous system disorder' 'Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome' SubClassOf 'syndromic intellectual disability' 'Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_295132 Brachydactyly of toes, unilateral 'Brachydactyly of toes, unilateral' SubClassOf 'Brachydactyly of toes' 'Brachydactyly of toes, unilateral' SubClassOf 'Brachydactyly of toes' http://www.orpha.net/ORDO/Orphanet_75327 North Carolina macular dystrophy 'North Carolina macular dystrophy' SubClassOf 'Colobomatous and areolar dystrophy' 'North Carolina macular dystrophy' SubClassOf 'Genetic macular dystrophy' 'North Carolina macular dystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_75326 Retinal arterial tortuosity 'Retinal arterial tortuosity' SubClassOf 'arterial disorder' http://www.orpha.net/ORDO/Orphanet_295138 Symbrachydactyly of hand and foot, bilateral 'Symbrachydactyly of hand and foot, bilateral' SubClassOf 'Symbrachydactyly of hands and feet' 'Symbrachydactyly of hand and foot, bilateral' SubClassOf 'Symbrachydactyly of hands and feet' http://www.orpha.net/ORDO/Orphanet_356978 D,L-2-hydroxyglutaric aciduria 'D,L-2-hydroxyglutaric aciduria' SubClassOf '2-hydroxyglutaric aciduria' 'D,L-2-hydroxyglutaric aciduria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295136 Symbrachydactyly of hand and foot, unilateral 'Symbrachydactyly of hand and foot, unilateral' SubClassOf 'Symbrachydactyly of hands and feet' 'Symbrachydactyly of hand and foot, unilateral' SubClassOf 'Symbrachydactyly of hands and feet' http://www.orpha.net/ORDO/Orphanet_295128 Brachydactyly of fingers, unilateral 'Brachydactyly of fingers, unilateral' SubClassOf 'Brachydactyly of fingers' 'Brachydactyly of fingers, unilateral' SubClassOf 'Brachydactyly of fingers' http://www.orpha.net/ORDO/Orphanet_329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy 'Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' SubClassOf 'Mitochondrial myopathy' 'Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' SubClassOf 'Neurometabolic disease' 'Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' SubClassOf 'Syndromic genetic deafness' 'Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' SubClassOf 'Mitochondrial myopathy' 'Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' SubClassOf 'Neurometabolic disease' 'Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_99324 Paternal uniparental disomy of chromosome 13 'Paternal uniparental disomy of chromosome 13' SubClassOf 'Uniparental disomy of paternal origin' 'Paternal uniparental disomy of chromosome 13' SubClassOf 'chromosome 13 disorder' 'Paternal uniparental disomy of chromosome 13' SubClassOf 'uniparental disomy' 'Paternal uniparental disomy of chromosome 13' SubClassOf 'Uniparental disomy of paternal origin' http://www.orpha.net/ORDO/Orphanet_295140 Hyperphalangy, unilateral 'Hyperphalangy, unilateral' SubClassOf 'Hyperphalangy' 'Hyperphalangy, unilateral' SubClassOf 'Hyperphalangy' http://www.orpha.net/ORDO/Orphanet_99329 48,XYYY syndrome '48,XYYY syndrome' SubClassOf 'Male infertility due to gonadal dysgenesis' '48,XYYY syndrome' SubClassOf 'syndromic intellectual disability' '48,XYYY syndrome' SubClassOf 'male infertility' '48,XYYY syndrome' SubClassOf 'tetrasomy' '48,XYYY syndrome' SubClassOf 'Rare genetic neurological disorder' '48,XYYY syndrome' SubClassOf 'Y chromosome number anomaly' '48,XYYY syndrome' SubClassOf 'chromosome Y disorder' '48,XYYY syndrome' SubClassOf 'Syndromic urogenital tract malformation' '48,XYYY syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295144 Polydactyly of a biphalangeal thumb, unilateral 'Polydactyly of a biphalangeal thumb, unilateral' SubClassOf 'Polydactyly of a biphalangeal thumb' 'Polydactyly of a biphalangeal thumb, unilateral' SubClassOf 'Polydactyly of a biphalangeal thumb' http://www.orpha.net/ORDO/Orphanet_295142 Hyperphalangy, bilateral 'Hyperphalangy, bilateral' SubClassOf 'Hyperphalangy' 'Hyperphalangy, bilateral' SubClassOf 'Hyperphalangy' http://www.orpha.net/ORDO/Orphanet_295148 Polydactyly of a triphalangeal thumb, unilateral 'Polydactyly of a triphalangeal thumb, unilateral' SubClassOf 'Polydactyly of a triphalangeal thumb' 'Polydactyly of a triphalangeal thumb, unilateral' SubClassOf 'Polydactyly of a triphalangeal thumb' http://www.orpha.net/ORDO/Orphanet_295146 Polydactyly of a biphalangeal thumb, bilateral 'Polydactyly of a biphalangeal thumb, bilateral' SubClassOf 'Polydactyly of a biphalangeal thumb' 'Polydactyly of a biphalangeal thumb, bilateral' SubClassOf 'Polydactyly of a biphalangeal thumb' http://www.orpha.net/ORDO/Orphanet_329329 Autosomal recessive frontotemporal pachygyria 'Autosomal recessive frontotemporal pachygyria' SubClassOf 'cerebral malformation' http://www.orpha.net/ORDO/Orphanet_75325 Osteosclerosis - ichthyosis - premature ovarian failure 'Osteosclerosis - ichthyosis - premature ovarian failure' SubClassOf 'Non-acquired premature ovarian failure' 'Osteosclerosis - ichthyosis - premature ovarian failure' SubClassOf 'Non-acquired premature ovarian failure' http://www.orpha.net/ORDO/Orphanet_329324 Inverse Klippel-Trénaunay syndrome 'Inverse Klippel-Trénaunay syndrome' SubClassOf 'vascular bone neoplasm' 'Inverse Klippel-Trénaunay syndrome' SubClassOf 'hereditary disorder of connective tissue' 'Inverse Klippel-Trénaunay syndrome' SubClassOf 'Congenital vascular bone syndrome' 'Inverse Klippel-Trénaunay syndrome' SubClassOf 'Congenital vascular bone syndrome' http://www.orpha.net/ORDO/Orphanet_99330 49,XYYYY syndrome '49,XYYYY syndrome' SubClassOf 'chromosome Y disorder' '49,XYYYY syndrome' SubClassOf 'pentasomy' '49,XYYYY syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' '49,XYYYY syndrome' SubClassOf 'Y chromosome number anomaly' '49,XYYYY syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295152 Polydactyly of an index finger, unilateral 'Polydactyly of an index finger, unilateral' SubClassOf 'Polydactyly of an index finger' 'Polydactyly of an index finger, unilateral' SubClassOf 'Polydactyly of an index finger' http://www.orpha.net/ORDO/Orphanet_295150 Polydactyly of a triphalangeal thumb, bilateral 'Polydactyly of a triphalangeal thumb, bilateral' SubClassOf 'Polydactyly of a triphalangeal thumb' 'Polydactyly of a triphalangeal thumb, bilateral' SubClassOf 'Polydactyly of a triphalangeal thumb' http://www.orpha.net/ORDO/Orphanet_356996 Intellectual disability - hypotonia - spasticity - sleep disorder 'Intellectual disability - hypotonia - spasticity - sleep disorder' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_295154 Polydactyly of an index finger, bilateral 'Polydactyly of an index finger, bilateral' SubClassOf 'Polydactyly of an index finger' 'Polydactyly of an index finger, bilateral' SubClassOf 'Polydactyly of an index finger' http://www.orpha.net/ORDO/Orphanet_295159 Polysyndactyly, unilateral 'Polysyndactyly, unilateral' SubClassOf 'Polysyndactyly' 'Polysyndactyly, unilateral' SubClassOf 'Polysyndactyly' http://www.orpha.net/ORDO/Orphanet_329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency 'Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency' SubClassOf 'Multiple mitochondrial DNA deletion syndrome' 'Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency' SubClassOf 'progressive external ophthalmoplegia with mitochondrial DNA deletions' 'Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency' SubClassOf 'Multiple mitochondrial DNA deletion syndrome' 'Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency' SubClassOf 'Mitochondrial myopathy' http://www.orpha.net/ORDO/Orphanet_329319 Hereditary thrombocytosis with transverse limb defect 'Hereditary thrombocytosis with transverse limb defect' SubClassOf 'congenital hematological disorder' 'Hereditary thrombocytosis with transverse limb defect' SubClassOf 'Rare genetic coagulation disorder' 'Hereditary thrombocytosis with transverse limb defect' SubClassOf 'Dysostosis of genetic origin' 'Hereditary thrombocytosis with transverse limb defect' SubClassOf 'congenital limb malformation' http://www.orpha.net/ORDO/Orphanet_329303 PLA2G6-associated neurodegeneration 'PLA2G6-associated neurodegeneration' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' 'PLA2G6-associated neurodegeneration' SubClassOf 'Neurodegeneration with brain iron accumulation' 'PLA2G6-associated neurodegeneration' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_75389 Brain malformation - congenital heart disease - postaxial polydactyly 'Brain malformation - congenital heart disease - postaxial polydactyly' SubClassOf 'congenital nervous system disorder' 'Brain malformation - congenital heart disease - postaxial polydactyly' SubClassOf 'heart disease' 'Brain malformation - congenital heart disease - postaxial polydactyly' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Brain malformation - congenital heart disease - postaxial polydactyly' SubClassOf 'syndromic intellectual disability' 'Brain malformation - congenital heart disease - postaxial polydactyly' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_307995 Marginal papular palmoplantar keratoderma 'Marginal papular palmoplantar keratoderma' SubClassOf 'Isolated punctate palmoplantar keratoderma' 'Marginal papular palmoplantar keratoderma' SubClassOf 'Isolated punctate palmoplantar keratoderma' http://www.orpha.net/ORDO/Orphanet_75382 Oguchi disease 'Oguchi disease' SubClassOf 'Congenital stationary night blindness' 'Oguchi disease' SubClassOf 'Retinal dystrophy' 'Oguchi disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_75381 Cystoid macular dystrophy 'Cystoid macular dystrophy' SubClassOf 'macular retinal edema' http://www.orpha.net/ORDO/Orphanet_329308 Fatty acid hydroxylase-associated neurodegeneration 'Fatty acid hydroxylase-associated neurodegeneration' SubClassOf 'facial paralysis' 'Fatty acid hydroxylase-associated neurodegeneration' SubClassOf 'Neurodegeneration with brain iron accumulation' 'Fatty acid hydroxylase-associated neurodegeneration' SubClassOf 'syndromic hereditary optic neuropathy' 'Fatty acid hydroxylase-associated neurodegeneration' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Fatty acid hydroxylase-associated neurodegeneration' SubClassOf 'eye degenerative disorder' 'Fatty acid hydroxylase-associated neurodegeneration' SubClassOf 'Rare syndromic dyslipidemia' 'Fatty acid hydroxylase-associated neurodegeneration' SubClassOf 'Autosomal recessive syndromic optic atrophy' 'Fatty acid hydroxylase-associated neurodegeneration' SubClassOf 'Neurodegeneration with brain iron accumulation' 'Fatty acid hydroxylase-associated neurodegeneration' SubClassOf 'syndromic hereditary optic neuropathy' http://www.orpha.net/ORDO/Orphanet_75376 Familial drusen 'Familial drusen' SubClassOf 'retinal drusen' 'Familial drusen' SubClassOf 'Disease predisposing to age-related macular degeneration' 'Familial drusen' SubClassOf 'Familial flecked retinopathy' 'Familial drusen' SubClassOf 'Disease predisposing to age-related macular degeneration' 'Familial drusen' SubClassOf 'Familial flecked retinopathy' http://www.orpha.net/ORDO/Orphanet_75374 Bradyopsia 'Bradyopsia' SubClassOf 'Genetic vitreous-retinal disease' 'Bradyopsia' SubClassOf 'Genetic vitreous-retinal disease' http://www.orpha.net/ORDO/Orphanet_75373 Progressive bifocal chorioretinal atrophy 'Progressive bifocal chorioretinal atrophy' SubClassOf 'Retinal dystrophy' 'Progressive bifocal chorioretinal atrophy' SubClassOf 'Retinal dystrophy' http://www.orpha.net/ORDO/Orphanet_75378 Oligocone trichromacy 'Oligocone trichromacy' SubClassOf 'Retinal dystrophy' 'Oligocone trichromacy' SubClassOf 'Retinal dystrophy' http://www.orpha.net/ORDO/Orphanet_75377 Central areolar choroidal dystrophy 'Central areolar choroidal dystrophy' SubClassOf 'Colobomatous and areolar dystrophy' 'Central areolar choroidal dystrophy' SubClassOf 'optic choroid disorder' 'Central areolar choroidal dystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019118 http://www.orpha.net/ORDO/Orphanet_295101 Acheiria, unilateral 'Acheiria, unilateral' SubClassOf 'Acheiria' 'Acheiria, unilateral' SubClassOf 'Acheiria' http://purl.obolibrary.org/obo/MONDO_0014704 skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome 'skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome' SubClassOf 'Primary bone dysplasia' 'skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome' SubClassOf 'genetic disorder' 'skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018230 http://www.orpha.net/ORDO/Orphanet_295105 Apodia, unilateral 'Apodia, unilateral' SubClassOf 'Apodia' 'Apodia, unilateral' SubClassOf 'Apodia' http://www.orpha.net/ORDO/Orphanet_295103 Acheiria, bilateral 'Acheiria, bilateral' SubClassOf 'Acheiria' 'Acheiria, bilateral' SubClassOf 'Acheiria' http://purl.obolibrary.org/obo/MONDO_0014701 spondyloepiphyseal dysplasia, Stanescu type 'spondyloepiphyseal dysplasia, Stanescu type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'spondyloepiphyseal dysplasia, Stanescu type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016761 http://purl.obolibrary.org/obo/MONDO_0002730 childhood kidney neoplasm 'childhood kidney neoplasm' SubClassOf 'childhood neoplasm' 'childhood kidney neoplasm' SubClassOf 'childhood neoplasm' http://www.orpha.net/ORDO/Orphanet_295112 Congenital absence/hypoplasia of thumb, bilateral 'Congenital absence/hypoplasia of thumb, bilateral' SubClassOf 'Congenital absence/hypoplasia of thumb' 'Congenital absence/hypoplasia of thumb, bilateral' SubClassOf 'Congenital absence/hypoplasia of thumb' http://www.orpha.net/ORDO/Orphanet_295110 Congenital absence/hypoplasia of thumb, unilateral 'Congenital absence/hypoplasia of thumb, unilateral' SubClassOf 'Congenital absence/hypoplasia of thumb' 'Congenital absence/hypoplasia of thumb, unilateral' SubClassOf 'Congenital absence/hypoplasia of thumb' http://purl.obolibrary.org/obo/MONDO_0014714 progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 'progressive microcephaly-seizures-cortical blindness-developmental delay syndrome' SubClassOf 'Rare genetic neurological disorder' 'progressive microcephaly-seizures-cortical blindness-developmental delay syndrome' SubClassOf 'Genetic neuro-ophthalmological disease' 'progressive microcephaly-seizures-cortical blindness-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 'progressive microcephaly-seizures-cortical blindness-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015368 http://www.orpha.net/ORDO/Orphanet_295116 Adactyly of foot, unilateral 'Adactyly of foot, unilateral' SubClassOf 'adactyly of foot' http://www.orpha.net/ORDO/Orphanet_295114 Congenital absence/hypoplasia of fingers excluding thumb, bilateral 'Congenital absence/hypoplasia of fingers excluding thumb, bilateral' SubClassOf 'Congenital absence/hypoplasia of fingers excluding thumb' 'Congenital absence/hypoplasia of fingers excluding thumb, bilateral' SubClassOf 'Congenital absence/hypoplasia of fingers excluding thumb' http://www.orpha.net/ORDO/Orphanet_295107 Apodia, bilateral 'Apodia, bilateral' SubClassOf 'Apodia' 'Apodia, bilateral' SubClassOf 'Apodia' http://purl.obolibrary.org/obo/MONDO_0002742 cervical mucinous adenocarcinoma 'cervical mucinous adenocarcinoma' SubClassOf 'mucinous carcinoma' 'cervical mucinous adenocarcinoma' SubClassOf 'mucinous carcinoma' http://www.ebi.ac.uk/efo/EFO_0009904 Lopes-Maciel-Rodan syndrome 'Lopes-Maciel-Rodan syndrome' SubClassOf 'syndromic disease' 'Lopes-Maciel-Rodan syndrome' SubClassOf 'Rare genetic neurological disorder' 'Lopes-Maciel-Rodan syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 'Lopes-Maciel-Rodan syndrome' SubClassOf 'syndromic disease' 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 'Neurometabolic disorder due to serine deficiency' 'spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018162 http://www.ebi.ac.uk/efo/EFO_0009907 Desmoid-type fibromatosis 'Desmoid-type fibromatosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017127 http://www.orpha.net/ORDO/Orphanet_210163 Congenital lethal myopathy, Compton-North type 'Congenital lethal myopathy, Compton-North type' SubClassOf 'Congenital myopathy' 'Congenital lethal myopathy, Compton-North type' SubClassOf 'Congenital myopathy' http://purl.obolibrary.org/obo/MONDO_0002746 fallopian tube adenocarcinoma 'fallopian tube adenocarcinoma' SubClassOf 'adenocarcinoma' 'fallopian tube adenocarcinoma' SubClassOf 'Fallopian Tube Carcinoma' 'fallopian tube adenocarcinoma' SubClassOf 'adenocarcinoma' 'fallopian tube adenocarcinoma' SubClassOf 'Fallopian Tube Carcinoma' http://purl.obolibrary.org/obo/MONDO_0014731 seizures-scoliosis-macrocephaly syndrome 'seizures-scoliosis-macrocephaly syndrome' SubClassOf 'Disorder of O-xylosylglycan synthesis' 'seizures-scoliosis-macrocephaly syndrome' SubClassOf 'Neurometabolic disease' 'seizures-scoliosis-macrocephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017742 'seizures-scoliosis-macrocephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019058 http://purl.obolibrary.org/obo/MONDO_0014732 hypomyelinating leukodystrophy 12 'hypomyelinating leukodystrophy 12' SubClassOf 'Leukodystrophy' 'hypomyelinating leukodystrophy 12' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019046 http://purl.obolibrary.org/obo/MONDO_0002764 urethra squamous cell carcinoma 'urethra squamous cell carcinoma' SubClassOf 'carcinoma of urethra' 'urethra squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' 'urethra squamous cell carcinoma' SubClassOf 'carcinoma of urethra' 'urethra squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0026730 Basilicata-Akhtar syndrome 'Basilicata-Akhtar syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Basilicata-Akhtar syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 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 http://purl.obolibrary.org/obo/MONDO_0020119 http://purl.obolibrary.org/obo/MONDO_0014741 facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation 'facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 'facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043005 http://www.orpha.net/ORDO/Orphanet_209182 Qualitative or quantitative defects of nebulin 'Qualitative or quantitative defects of nebulin' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of nebulin' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' http://purl.obolibrary.org/obo/MONDO_0014746 SLC39A8-CDG 'SLC39A8-CDG' SubClassOf 'Developmental anomaly of metabolic origin' 'SLC39A8-CDG' SubClassOf 'Disorder of protein N-glycosylation' 'SLC39A8-CDG' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'SLC39A8-CDG' SubClassOf 'congenital disorder of glycosylation type II' 'SLC39A8-CDG' SubClassOf 'Rare genetic neurological disorder' 'SLC39A8-CDG' SubClassOf 'congenital disorder of glycosylation type II' 'SLC39A8-CDG' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043005 'SLC39A8-CDG' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017740 'SLC39A8-CDG' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015327 'SLC39A8-CDG' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015159 'SLC39A8-CDG' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://purl.obolibrary.org/obo/MONDO_0000108 bacteremia, susceptibility 'bacteremia, susceptibility' SubClassOf 'Genetic susceptibility to infections due to particular pathogens' 'bacteremia, susceptibility' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015979 http://www.orpha.net/ORDO/Orphanet_209188 Qualitative or quantitative defects of emerin 'Qualitative or quantitative defects of emerin' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of emerin' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' http://www.orpha.net/ORDO/Orphanet_209185 Qualitative or quantitative defects of beta-myosin heavy chain (MYH7) 'Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' http://www.orpha.net/ORDO/Orphanet_209193 Qualitative or quantitative defects of selenoprotein N1 'Qualitative or quantitative defects of selenoprotein N1' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of selenoprotein N1' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' http://purl.obolibrary.org/obo/MONDO_0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome 'macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome' SubClassOf 'Rare genetic neurological disorder' 'macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome' SubClassOf 'Syndromic lymphedema' 'macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome' SubClassOf 'Milroy disease' 'macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 'macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019520 'macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015159 'macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043005 'macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019313 http://purl.obolibrary.org/obo/MONDO_0000119 congenital heart defects, multiple types 'congenital heart defects, multiple types' SubClassOf 'congenital heart disease' 'congenital heart defects, multiple types' SubClassOf 'congenital heart disease' http://purl.obolibrary.org/obo/MONDO_0000118 reticulate pigment disorder 'reticulate pigment disorder' SubClassOf 'Genetic pigmentation anomaly of the skin' 'reticulate pigment disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019288 'reticulate pigment disorder' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_209199 Qualitative or quantitative defects of protein SERCA1 'Qualitative or quantitative defects of protein SERCA1' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of protein SERCA1' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' http://www.orpha.net/ORDO/Orphanet_209196 Qualitative or quantitative defects of plectin 'Qualitative or quantitative defects of plectin' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of plectin' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' http://www.orpha.net/ORDO/Orphanet_75392 Ehlers-Danlos syndrome, periodontitis type 'Ehlers-Danlos syndrome, periodontitis type' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, periodontitis type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_75391 Immunodeficiency with natural-killer cell deficiency and adrenal insufficiency 'Immunodeficiency with natural-killer cell deficiency and adrenal insufficiency' SubClassOf 'Primary immunodeficiency due to a defect in adaptive immunity' 'Immunodeficiency with natural-killer cell deficiency and adrenal insufficiency' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0014769 inherited oocyte maturation defect 'inherited oocyte maturation defect' SubClassOf 'Genetic infertility' 'inherited oocyte maturation defect' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017143 http://purl.obolibrary.org/obo/MONDO_0014764 spastic paraplegia-severe developmental delay-epilepsy syndrome 'spastic paraplegia-severe developmental delay-epilepsy syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'spastic paraplegia-severe developmental delay-epilepsy syndrome' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'spastic paraplegia-severe developmental delay-epilepsy syndrome' SubClassOf 'Monogenic disease with epilepsy' 'spastic paraplegia-severe developmental delay-epilepsy syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015159 'spastic paraplegia-severe developmental delay-epilepsy syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043005 'spastic paraplegia-severe developmental delay-epilepsy syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015653 'spastic paraplegia-severe developmental delay-epilepsy syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015089 http://purl.obolibrary.org/obo/MONDO_0014768 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 'cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2' SubClassOf 'CADASIL' 'cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0007432 http://purl.obolibrary.org/obo/MONDO_0012104 acquired partial lipodystrophy 'acquired partial lipodystrophy' SubClassOf 'Developmental anomaly of metabolic origin' 'acquired partial lipodystrophy' SubClassOf 'partial lipodystrophy' 'acquired partial lipodystrophy' SubClassOf 'Familial partial lipodystrophy' 'acquired partial lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015327 'acquired partial lipodystrophy' SubClassOf 'partial lipodystrophy' http://www.orpha.net/ORDO/Orphanet_261796 Partial deletion of chromosome 7 'Partial deletion of chromosome 7' SubClassOf 'syndrome caused by partial chromosomal deletion' 'Partial deletion of chromosome 7' SubClassOf 'chromosome 7 disorder' 'Partial deletion of chromosome 7' SubClassOf 'Partial autosomal monosomy' 'Partial deletion of chromosome 7' SubClassOf 'Partial autosomal monosomy' http://www.orpha.net/ORDO/Orphanet_261791 Partial deletion of chromosome 6 'Partial deletion of chromosome 6' SubClassOf 'syndrome caused by partial chromosomal deletion' 'Partial deletion of chromosome 6' SubClassOf 'chromosome 6 disorder' 'Partial deletion of chromosome 6' SubClassOf 'Partial autosomal monosomy' 'Partial deletion of chromosome 6' SubClassOf 'Partial autosomal monosomy' http://purl.obolibrary.org/obo/MONDO_0002798 childhood central nervous system primitive neuroectodermal neoplasm 'childhood central nervous system primitive neuroectodermal neoplasm' SubClassOf 'central nervous system primitive neuroectodermal neoplasm' 'childhood central nervous system primitive neuroectodermal neoplasm' SubClassOf 'central nervous system primitive neuroectodermal neoplasm' http://purl.obolibrary.org/obo/MONDO_0000137 leukoencephalopathy, megalencephalic 'leukoencephalopathy, megalencephalic' SubClassOf 'Rare genetic neurological disorder' 'leukoencephalopathy, megalencephalic' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.orpha.net/ORDO/Orphanet_261776 Partial deletion of chromosome 3 'Partial deletion of chromosome 3' SubClassOf 'chromosome 3 disorder' 'Partial deletion of chromosome 3' SubClassOf 'syndrome caused by partial chromosomal deletion' 'Partial deletion of chromosome 3' SubClassOf 'Partial autosomal monosomy' 'Partial deletion of chromosome 3' SubClassOf 'Partial autosomal monosomy' http://purl.obolibrary.org/obo/MONDO_0012112 hypertrophic cardiomyopathy 10 'hypertrophic cardiomyopathy 10' SubClassOf 'familial hypertrophic cardiomyopathy' 'hypertrophic cardiomyopathy 10' SubClassOf 'familial hypertrophic cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_199351 Adult-onset dystonia-parkinsonism 'Adult-onset dystonia-parkinsonism' SubClassOf 'late-onset Parkinson disease' 'Adult-onset dystonia-parkinsonism' SubClassOf 'PLA2G6-associated neurodegeneration' 'Adult-onset dystonia-parkinsonism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017998 http://purl.obolibrary.org/obo/MONDO_0014776 spinocerebellar ataxia type 42 'spinocerebellar ataxia type 42' SubClassOf 'Autosomal dominant cerebellar ataxia type 3' 'spinocerebellar ataxia type 42' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019793 http://www.orpha.net/ORDO/Orphanet_199354 CARASIL 'CARASIL' SubClassOf 'cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2' 'CARASIL' SubClassOf 'HTRA1-related cerebral small vessel disease' 'CARASIL' SubClassOf 'Genetic central nervous system and retinal vascular disease' http://www.orpha.net/ORDO/Orphanet_261786 Partial deletion of chromosome 5 'Partial deletion of chromosome 5' SubClassOf 'syndrome caused by partial chromosomal deletion' 'Partial deletion of chromosome 5' SubClassOf 'Partial autosomal monosomy' 'Partial deletion of chromosome 5' SubClassOf 'chromosome 5 disorder' 'Partial deletion of chromosome 5' SubClassOf 'Partial autosomal monosomy' http://www.orpha.net/ORDO/Orphanet_99361 Familial medullary thyroid carcinoma 'Familial medullary thyroid carcinoma' EquivalentTo 'medullary thyroid gland carcinoma' and ('has modifier' some 'inherited') 'Familial medullary thyroid carcinoma' SubClassOf 'Multiple endocrine neoplasia type 2' 'Familial medullary thyroid carcinoma' SubClassOf 'medullary thyroid gland carcinoma' 'Familial medullary thyroid carcinoma' SubClassOf 'Multiple endocrine neoplasia type 2' 'Familial medullary thyroid carcinoma' SubClassOf 'follicular thyroid carcinoma' http://www.orpha.net/ORDO/Orphanet_261781 Partial deletion of chromosome 4 'Partial deletion of chromosome 4' SubClassOf 'Partial autosomal monosomy' 'Partial deletion of chromosome 4' SubClassOf 'chromosome 4 disorder' 'Partial deletion of chromosome 4' SubClassOf 'syndrome caused by partial chromosomal deletion' 'Partial deletion of chromosome 4' SubClassOf 'Partial autosomal monosomy' http://www.orpha.net/ORDO/Orphanet_261766 Partial deletion of chromosome 1 'Partial deletion of chromosome 1' SubClassOf 'chromosome 1 disorder' 'Partial deletion of chromosome 1' SubClassOf 'Partial autosomal monosomy' 'Partial deletion of chromosome 1' SubClassOf 'syndrome caused by partial chromosomal deletion' 'Partial deletion of chromosome 1' SubClassOf 'Partial autosomal monosomy' http://www.ebi.ac.uk/efo/EFO_0007305 hepatitis A virus infection 'hepatitis A virus infection' SubClassOf 'viral human hepatitis infection' 'hepatitis A virus infection' SubClassOf 'viral human hepatitis infection' http://www.orpha.net/ORDO/Orphanet_356947 3q26q27 microdeletion syndrome '3q26q27 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 3' '3q26q27 microdeletion syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0014789 CCDC115-CDG 'CCDC115-CDG' SubClassOf 'congenital disorder of glycosylation type II' 'CCDC115-CDG' SubClassOf 'Disorder of multiple glycosylation' 'CCDC115-CDG' SubClassOf 'congenital disorder of glycosylation type II' 'CCDC115-CDG' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017749 http://www.orpha.net/ORDO/Orphanet_199340 Muscular dystrophy, Selcen type 'Muscular dystrophy, Selcen type' SubClassOf 'Myofibrillar myopathy' 'Muscular dystrophy, Selcen type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_199343 EAST syndrome 'EAST syndrome' SubClassOf 'Syndromic genetic deafness' 'EAST syndrome' SubClassOf 'Genetic renal tubular disease' 'EAST syndrome' SubClassOf 'syndromic intellectual disability' 'EAST syndrome' SubClassOf 'hereditary ataxia' 'EAST syndrome' SubClassOf 'Rare hereditary ataxia' 'EAST syndrome' SubClassOf 'Channelopathy with epilepsy' 'EAST syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0010954 cask-related c-linked intellectual disability 'cask-related c-linked intellectual disability' SubClassOf 'X-linked syndromic intellectual disability' 'cask-related c-linked intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 http://www.orpha.net/ORDO/Orphanet_261771 Partial deletion of chromosome 2 'Partial deletion of chromosome 2' SubClassOf 'Partial autosomal monosomy' 'Partial deletion of chromosome 2' SubClassOf 'chromosome 2 disorder' 'Partial deletion of chromosome 2' SubClassOf 'syndrome caused by partial chromosomal deletion' 'Partial deletion of chromosome 2' SubClassOf 'Partial autosomal monosomy' http://www.orpha.net/ORDO/Orphanet_199329 Congenital myopathy, Paradas type 'Congenital myopathy, Paradas type' SubClassOf 'Qualitative or quantitative defects of dysferlin' 'Congenital myopathy, Paradas type' SubClassOf 'Congenital muscular dystrophy' 'Congenital myopathy, Paradas type' SubClassOf 'Qualitative or quantitative defects of dysferlin' 'Congenital myopathy, Paradas type' SubClassOf 'Congenital muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0026768 warfarin sensitivity, X-linked 'warfarin sensitivity, X-linked' SubClassOf 'genetic disorder' 'warfarin sensitivity, X-linked' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0000152 thiamine-responsive dysfunction syndrome 'thiamine-responsive dysfunction syndrome' SubClassOf 'Disorder of thiamine metabolism and transport' 'thiamine-responsive dysfunction syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017578 http://www.orpha.net/ORDO/Orphanet_199332 Endocrine-cerebro-osteodysplasia syndrome 'Endocrine-cerebro-osteodysplasia syndrome' SubClassOf 'Dysostosis of genetic origin' 'Endocrine-cerebro-osteodysplasia syndrome' SubClassOf 'genetic lethal multiple congenital anomalies/dysmorphic syndrome' 'Endocrine-cerebro-osteodysplasia syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome' http://www.orpha.net/ORDO/Orphanet_199337 Pancreatic insufficiency - anemia - hyperostosis 'Pancreatic insufficiency - anemia - hyperostosis' SubClassOf 'Primary bone dysplasia' 'Pancreatic insufficiency - anemia - hyperostosis' SubClassOf 'exocrine pancreatic insufficiency' 'Pancreatic insufficiency - anemia - hyperostosis' SubClassOf 'Congenital dyserythropoietic anemia' 'Pancreatic insufficiency - anemia - hyperostosis' SubClassOf 'Isolated cytochrome C oxidase deficiency' 'Pancreatic insufficiency - anemia - hyperostosis' SubClassOf 'Constitutional dyserythropoietic anemia' http://purl.obolibrary.org/obo/MONDO_0014790 TMEM199-CDG 'TMEM199-CDG' SubClassOf 'Disorder of multiple glycosylation' 'TMEM199-CDG' SubClassOf 'congenital disorder of glycosylation type II' 'TMEM199-CDG' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017749 'TMEM199-CDG' SubClassOf 'congenital disorder of glycosylation type II' http://purl.obolibrary.org/obo/MONDO_0002588 thymoma type A 'thymoma type A' SubClassOf 'Thymoma' 'thymoma type A' SubClassOf 'Thymoma' http://purl.obolibrary.org/obo/MONDO_0002586 thymus cancer 'thymus cancer' SubClassOf 'thoracic cancer' http://purl.obolibrary.org/obo/MONDO_0002580 orbit rhabdomyosarcoma 'orbit rhabdomyosarcoma' SubClassOf 'orbit sarcoma' 'orbit rhabdomyosarcoma' SubClassOf 'hereditary disorder of connective tissue' 'orbit rhabdomyosarcoma' SubClassOf 'orbit sarcoma' http://purl.obolibrary.org/obo/MONDO_0014572 Lichtenstein-Knorr syndrome 'Lichtenstein-Knorr syndrome' SubClassOf 'Syndromic genetic deafness' 'Lichtenstein-Knorr syndrome' SubClassOf 'Autosomal recessive cerebellar ataxia' 'Lichtenstein-Knorr syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019589 'Lichtenstein-Knorr syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015244 http://www.ebi.ac.uk/efo/EFO_0005046 cutaneous Leishmaniasis 'cutaneous Leishmaniasis' SubClassOf 'Leishmaniasis' 'cutaneous Leishmaniasis' SubClassOf 'Leishmaniasis' http://www.ebi.ac.uk/efo/EFO_0005045 visceral Leishmaniasis 'visceral Leishmaniasis' SubClassOf 'Leishmaniasis' 'visceral Leishmaniasis' SubClassOf 'Leishmaniasis' http://www.ebi.ac.uk/efo/EFO_0007693 Hi-C 'Hi-C' SubClassOf 'ligation-free chromosome conformation capture assay' 'Hi-C' SubClassOf 'ligation-mediated chromosome conformation capture assay' http://www.orpha.net/ORDO/Orphanet_210571 Dystonia 16 'Dystonia 16' SubClassOf 'Persistent combined dystonia' 'Dystonia 16' SubClassOf 'multifocal dystonia' 'Dystonia 16' SubClassOf 'parkinsonian disorder' 'Dystonia 16' SubClassOf 'Persistent combined dystonia' http://www.orpha.net/ORDO/Orphanet_51608 Generalized arterial calcification of infancy 'Generalized arterial calcification of infancy' SubClassOf 'vascular disease' 'Generalized arterial calcification of infancy' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_163684 Leukoencephalopathy - dystonia - motor neuropathy 'Leukoencephalopathy - dystonia - motor neuropathy' SubClassOf 'Peroxisomal beta-oxidation disorder' 'Leukoencephalopathy - dystonia - motor neuropathy' SubClassOf 'Leukodystrophy' 'Leukoencephalopathy - dystonia - motor neuropathy' SubClassOf 'Peroxisomal beta-oxidation disorder' 'Leukoencephalopathy - dystonia - motor neuropathy' SubClassOf 'Leukodystrophy' http://www.orpha.net/ORDO/Orphanet_163681 Cortical dysplasia - focal epilepsy syndrome 'Cortical dysplasia - focal epilepsy syndrome' SubClassOf 'Pitt-Hopkins-like syndrome' 'Cortical dysplasia - focal epilepsy syndrome' SubClassOf 'Epilepsy syndrome' 'Cortical dysplasia - focal epilepsy syndrome' SubClassOf 'Epilepsy syndrome' http://www.ebi.ac.uk/efo/EFO_0030029 NanoString digital spatial profiling 'NanoString digital spatial profiling' SubClassOf 'library preparation' http://www.orpha.net/ORDO/Orphanet_199642 Isolated congenital microcephaly 'Isolated congenital microcephaly' SubClassOf 'cerebral malformation' 'Isolated congenital microcephaly' SubClassOf 'Rare genetic neurological disorder' 'Isolated congenital microcephaly' SubClassOf 'microcephaly' http://www.orpha.net/ORDO/Orphanet_199647 Isolated encephalocele 'Isolated encephalocele' SubClassOf 'Cephalocele' 'Isolated encephalocele' SubClassOf 'Cephalocele' http://www.orpha.net/ORDO/Orphanet_199627 Atypical autism 'Atypical autism' SubClassOf 'pervasive developmental disorder' 'Atypical autism' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_163668 Spondyloepiphyseal dysplasia, MacDermot type 'Spondyloepiphyseal dysplasia, MacDermot type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepiphyseal dysplasia, MacDermot type' SubClassOf 'Syndromic genetic deafness' 'Spondyloepiphyseal dysplasia, MacDermot type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepiphyseal dysplasia, MacDermot type' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_163690 Hypotonia - cystinuria syndrome 'Hypotonia - cystinuria syndrome' SubClassOf '2p21 microdeletion syndrome' 'Hypotonia - cystinuria syndrome' SubClassOf 'inborn mitochondrial metabolism disorder' 'Hypotonia - cystinuria syndrome' SubClassOf 'Homozygous 2p21 microdeletion syndrome' 'Hypotonia - cystinuria syndrome' SubClassOf 'syndromic disease' 'Hypotonia - cystinuria syndrome' SubClassOf 'Disorder of amino acid absorption and transport' http://www.orpha.net/ORDO/Orphanet_163693 2p21 microdeletion syndrome '2p21 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 2' '2p21 microdeletion syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 2' '2p21 microdeletion syndrome' SubClassOf 'Genetic renal tubular disease' '2p21 microdeletion syndrome' SubClassOf 'Mitochondrial disease' '2p21 microdeletion syndrome' SubClassOf 'Disorder of amino acid absorption and transport' '2p21 microdeletion syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_163696 Action myoclonus - renal failure syndrome 'Action myoclonus - renal failure syndrome' SubClassOf 'Primary glomerular disease' 'Action myoclonus - renal failure syndrome' SubClassOf 'Progressive myoclonic epilepsy' 'Action myoclonus - renal failure syndrome' SubClassOf 'Epilepsy syndrome' 'Action myoclonus - renal failure syndrome' SubClassOf 'Primary glomerular disease' http://www.orpha.net/ORDO/Orphanet_100069 Semantic dementia 'Semantic dementia' SubClassOf 'Behavioral variant of frontotemporal dementia' 'Semantic dementia' SubClassOf 'Progressive non-fluent aphasia' 'Semantic dementia' SubClassOf 'Frontotemporal dementia' http://www.orpha.net/ORDO/Orphanet_163634 Maffucci syndrome 'Maffucci syndrome' SubClassOf 'Genetic bone tumor' 'Maffucci syndrome' SubClassOf 'vascular bone neoplasm' 'Maffucci syndrome' SubClassOf 'Genetic vascular anomaly' 'Maffucci syndrome' SubClassOf 'Genetic skin tumor' 'Maffucci syndrome' SubClassOf 'skin vascular disease' 'Maffucci syndrome' SubClassOf 'hereditary disorder of connective tissue' 'Maffucci syndrome' SubClassOf 'Overgrowth syndrome' 'Maffucci syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' 'Maffucci syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_100071 Mosaic trisomy 3 'Mosaic trisomy 3' SubClassOf 'Total autosomal trisomy' 'Mosaic trisomy 3' SubClassOf 'has modifier' some 'mosaic' 'Mosaic trisomy 3' SubClassOf 'trisomy' 'Mosaic trisomy 3' SubClassOf 'chromosome 3 disorder' 'Mosaic trisomy 3' SubClassOf 'Total autosomal trisomy' http://www.orpha.net/ORDO/Orphanet_100070 Progressive non-fluent aphasia 'Progressive non-fluent aphasia' SubClassOf 'disease arises from feature' some 'neurodegenerative disease' 'Progressive non-fluent aphasia' SubClassOf 'Grn-related frontotemporal lobar degeneration with Tdp43 inclusions' 'Progressive non-fluent aphasia' SubClassOf 'Frontotemporal dementia' http://www.orpha.net/ORDO/Orphanet_100047 Esophageal duplication cyst 'Esophageal duplication cyst' SubClassOf 'Duplication of the esophagus' 'Esophageal duplication cyst' SubClassOf 'Duplication of the esophagus' http://www.orpha.net/ORDO/Orphanet_100046 Autosomal dominant intermediate Charcot-Marie-Tooth disease type D 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type D' SubClassOf 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type D' SubClassOf 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' http://www.orpha.net/ORDO/Orphanet_100048 Tubular duplication of the esophagus 'Tubular duplication of the esophagus' SubClassOf 'Duplication of the esophagus' 'Tubular duplication of the esophagus' SubClassOf 'Duplication of the esophagus' http://www.orpha.net/ORDO/Orphanet_100043 Autosomal dominant intermediate Charcot-Marie-Tooth disease type A 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type A' SubClassOf 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type A' SubClassOf 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' http://www.orpha.net/ORDO/Orphanet_163662 Spondyloepiphyseal dysplasia, Reardon type 'Spondyloepiphyseal dysplasia, Reardon type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepiphyseal dysplasia, Reardon type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_100045 Autosomal dominant intermediate Charcot-Marie-Tooth disease type C 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type C' SubClassOf 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type C' SubClassOf 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' http://www.orpha.net/ORDO/Orphanet_100044 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type B' SubClassOf 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type B' SubClassOf 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' http://www.orpha.net/ORDO/Orphanet_163665 Spondyloepiphyseal dysplasia tarda, Kohn type 'Spondyloepiphyseal dysplasia tarda, Kohn type' SubClassOf 'Spondyloepiphyseal dysplasia tarda' 'Spondyloepiphyseal dysplasia tarda, Kohn type' SubClassOf 'syndromic intellectual disability' 'Spondyloepiphyseal dysplasia tarda, Kohn type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_100054 Hereditary angioedema type 3 'Hereditary angioedema type 3' SubClassOf 'hereditary angioedema with normal C1Inh' 'Hereditary angioedema type 3' SubClassOf 'Hereditary angioedema' http://www.orpha.net/ORDO/Orphanet_100050 Hereditary angioedema type 1 'Hereditary angioedema type 1' SubClassOf 'hereditary angioedema with C1Inh deficiency' 'Hereditary angioedema type 1' SubClassOf 'Hereditary angioedema' http://www.orpha.net/ORDO/Orphanet_163654 Spondyloepiphyseal dysplasia, Cantu type 'Spondyloepiphyseal dysplasia, Cantu type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepiphyseal dysplasia, Cantu type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_100051 Hereditary angioedema type 2 'Hereditary angioedema type 2' SubClassOf 'hereditary angioedema with C1Inh deficiency' 'Hereditary angioedema type 2' SubClassOf 'Hereditary angioedema' http://www.orpha.net/ORDO/Orphanet_163649 Spondyloepiphyseal dysplasia, Nishimura type 'Spondyloepiphyseal dysplasia, Nishimura type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepiphyseal dysplasia, Nishimura type' SubClassOf 'syndromic intellectual disability' 'Spondyloepiphyseal dysplasia, Nishimura type' SubClassOf 'Orofacial clefting syndrome' 'Spondyloepiphyseal dysplasia, Nishimura type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepiphyseal dysplasia, Nishimura type' SubClassOf 'Orofacial clefting syndrome' http://www.orpha.net/ORDO/Orphanet_210548 Macrocephaly-autism syndrome 'Macrocephaly-autism syndrome' SubClassOf 'has modifier' some 'rare' 'Macrocephaly-autism syndrome' SubClassOf 'autosomal dominant disease' 'Macrocephaly-autism syndrome' SubClassOf 'disorder of development or morphogenesis' http://www.orpha.net/ORDO/Orphanet_100094 Multiple polyglandular tumor 'Multiple polyglandular tumor' SubClassOf 'polyendocrinopathy' 'Multiple polyglandular tumor' SubClassOf 'disease has feature' some 'endocrine neoplasm' 'Multiple polyglandular tumor' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99672 Fried's tooth and nail syndrome 'Fried's tooth and nail syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Fried's tooth and nail syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_319651 Constitutional megaloblastic anemia with severe neurologic disease 'Constitutional megaloblastic anemia with severe neurologic disease' SubClassOf 'megaloblastic anemia' 'Constitutional megaloblastic anemia with severe neurologic disease' SubClassOf 'Disorder of folate metabolism and transport' 'Constitutional megaloblastic anemia with severe neurologic disease' SubClassOf 'Disorder of folate metabolism and transport' http://www.orpha.net/ORDO/Orphanet_99688 Dermotrichic syndrome 'Dermotrichic syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Dermotrichic syndrome' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_319635 amyloidosis cutis dyschromia 'amyloidosis cutis dyschromia' SubClassOf 'Genetic dermis disorder' 'amyloidosis cutis dyschromia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_319646 PGM-CDG 'PGM-CDG' SubClassOf 'Congenital disorder of glycosylation with dilated cardiomyopathy' 'PGM-CDG' SubClassOf 'Congenital disorder of glycosylation with hepatic involvement' 'PGM-CDG' SubClassOf 'Disorder of protein N-glycosylation' 'PGM-CDG' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_319640 Retinal macular dystrophy type 2 'Retinal macular dystrophy type 2' SubClassOf 'Genetic macular dystrophy' 'Retinal macular dystrophy type 2' SubClassOf 'Genetic macular dystrophy' http://www.orpha.net/ORDO/Orphanet_319612 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency 'X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency' SubClassOf 'mycobacterial infectious disease' 'X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency' SubClassOf 'immunodeficiency disease' 'X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency' SubClassOf 'X-linked disease' 'X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency' SubClassOf 'X-linked mendelian susceptibility to mycobacterial diseases' 'X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_319623 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency 'X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency' SubClassOf 'X-linked mendelian susceptibility to mycobacterial diseases' 'X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_99642 Spondyloepimetaphyseal dysplasia, Handigodu type 'Spondyloepimetaphyseal dysplasia, Handigodu type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepimetaphyseal dysplasia, Handigodu type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria 'Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_99645 Dappled diaphyseal dysplasia 'Dappled diaphyseal dysplasia' SubClassOf 'Chondrodysplasia punctata' 'Dappled diaphyseal dysplasia' SubClassOf 'Chondrodysplasia punctata' http://www.orpha.net/ORDO/Orphanet_99647 Cheirospondyloenchondromatosis 'Cheirospondyloenchondromatosis' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_99657 Primary dystonia, DYT2 type 'Primary dystonia, DYT2 type' SubClassOf 'Focal, segmental or multifocal dystonia' 'Primary dystonia, DYT2 type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_319600 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency 'Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency' SubClassOf 'Mendelian susceptibility to mycobacterial diseases' http://www.orpha.net/ORDO/Orphanet_319605 X-linked mendelian susceptibility to mycobacterial diseases 'X-linked mendelian susceptibility to mycobacterial diseases' SubClassOf 'Mendelian susceptibility to mycobacterial diseases' 'X-linked mendelian susceptibility to mycobacterial diseases' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0002618 undifferentiated high grade pleomorphic sarcoma of bone 'undifferentiated high grade pleomorphic sarcoma of bone' SubClassOf 'bone sarcoma' 'undifferentiated high grade pleomorphic sarcoma of bone' SubClassOf 'bone sarcoma' http://purl.obolibrary.org/obo/MONDO_0002619 bone fibrosarcoma 'bone fibrosarcoma' SubClassOf 'bone sarcoma' 'bone fibrosarcoma' SubClassOf 'fibrosarcoma' 'bone fibrosarcoma' SubClassOf 'bone sarcoma' 'bone fibrosarcoma' SubClassOf 'fibrosarcoma' http://purl.obolibrary.org/obo/MONDO_0002615 xanthomatosis 'xanthomatosis' SubClassOf 'Lipid storage disease' 'xanthomatosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019245 http://purl.obolibrary.org/obo/MONDO_0002616 mesenchymal cell neoplasm 'mesenchymal cell neoplasm' SubClassOf 'neoplasm' 'mesenchymal cell neoplasm' SubClassOf 'neoplasm' http://purl.obolibrary.org/obo/MONDO_0002621 extraosseous osteosarcoma 'extraosseous osteosarcoma' SubClassOf 'osteosarcoma' 'extraosseous osteosarcoma' SubClassOf 'osteosarcoma' http://www.orpha.net/ORDO/Orphanet_330050 Lethal encephalopathy due to mitochondrial and peroxisomal fission defect 'Lethal encephalopathy due to mitochondrial and peroxisomal fission defect' SubClassOf 'encephalopathy due to mitochondrial and peroxisomal fission defect' 'Lethal encephalopathy due to mitochondrial and peroxisomal fission defect' SubClassOf 'Neurometabolic disease' http://www.orpha.net/ORDO/Orphanet_330054 Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay 'Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay' SubClassOf 'Syndromic genetic deafness' 'Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay' SubClassOf 'Mitochondrial myopathy' 'Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay' SubClassOf 'Syndromic cataract' 'Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay' SubClassOf 'congenital nervous system disorder' 'Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay' SubClassOf 'Syndromic genetic deafness' 'Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay' SubClassOf 'Mitochondrial myopathy' 'Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay' SubClassOf 'Syndromic cataract' http://purl.obolibrary.org/obo/MONDO_0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 'intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043005 'intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015159 http://purl.obolibrary.org/obo/MONDO_0014608 mandibulofacial dysostosis with alopecia 'mandibulofacial dysostosis with alopecia' SubClassOf 'Alopecia' 'mandibulofacial dysostosis with alopecia' SubClassOf 'Syndromic genetic deafness' 'mandibulofacial dysostosis with alopecia' SubClassOf 'Mandibulofacial dysostosis' 'mandibulofacial dysostosis with alopecia' SubClassOf 'Dysostosis of genetic origin' 'mandibulofacial dysostosis with alopecia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019589 'mandibulofacial dysostosis with alopecia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018454 'mandibulofacial dysostosis with alopecia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015483 'mandibulofacial dysostosis with alopecia' SubClassOf 'genetic otorhinolaryngologic disease' http://purl.obolibrary.org/obo/MONDO_0002629 bone osteosarcoma 'bone osteosarcoma' SubClassOf 'bone sarcoma' 'bone osteosarcoma' SubClassOf 'osteosarcoma' 'bone osteosarcoma' SubClassOf 'bone sarcoma' 'bone osteosarcoma' SubClassOf 'osteosarcoma' http://www.orpha.net/ORDO/Orphanet_330041 Autosomal dominant methemoglobinemia 'Autosomal dominant methemoglobinemia' SubClassOf 'Hereditary methemoglobinemia' 'Autosomal dominant methemoglobinemia' SubClassOf 'methemoglobinemia' 'Autosomal dominant methemoglobinemia' SubClassOf 'Hereditary methemoglobinemia' http://purl.obolibrary.org/obo/MONDO_0014618 retinitis pigmentosa 71 'retinitis pigmentosa 71' SubClassOf 'Retinitis pigmentosa' 'retinitis pigmentosa 71' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019200 http://purl.obolibrary.org/obo/MONDO_0014611 multiple mitochondrial dysfunctions syndrome 4 'multiple mitochondrial dysfunctions syndrome 4' SubClassOf 'Leukodystrophy' 'multiple mitochondrial dysfunctions syndrome 4' SubClassOf 'Fatal multiple mitochondrial dysfunction syndrome' 'multiple mitochondrial dysfunctions syndrome 4' SubClassOf 'Rare syndromic dyslipidemia' 'multiple mitochondrial dysfunctions syndrome 4' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017338 'multiple mitochondrial dysfunctions syndrome 4' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015905 'multiple mitochondrial dysfunctions syndrome 4' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019046 http://www.orpha.net/ORDO/Orphanet_330032 Hemoglobin Lepore - beta-thalassemia 'Hemoglobin Lepore - beta-thalassemia' SubClassOf 'Beta-thalassemia and related diseases' http://purl.obolibrary.org/obo/MONDO_0002652 anus adenocarcinoma 'anus adenocarcinoma' SubClassOf 'anal carcinoma' 'anus adenocarcinoma' SubClassOf 'anal carcinoma' http://www.orpha.net/ORDO/Orphanet_330029 Hypotrichosis-deafness syndrome 'Hypotrichosis-deafness syndrome' SubClassOf 'Syndromic genetic deafness' 'Hypotrichosis-deafness syndrome' SubClassOf 'Syndromic nail anomaly' 'Hypotrichosis-deafness syndrome' SubClassOf 'Erythrokeratoderma variabilis progressiva' 'Hypotrichosis-deafness syndrome' SubClassOf 'genetic alopecia' 'Hypotrichosis-deafness syndrome' SubClassOf 'Syndromic genetic deafness' 'Hypotrichosis-deafness syndrome' SubClassOf 'Syndromic nail anomaly' 'Hypotrichosis-deafness syndrome' SubClassOf 'Erythrokeratoderma variabilis progressiva' http://purl.obolibrary.org/obo/MONDO_0014632 hypomyelinating leukodystrophy 10 'hypomyelinating leukodystrophy 10' SubClassOf 'Leukodystrophy' 'hypomyelinating leukodystrophy 10' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019046 http://purl.obolibrary.org/obo/MONDO_0002665 extrahepatic bile duct adenocarcinoma 'extrahepatic bile duct adenocarcinoma' SubClassOf 'extrahepatic bile duct carcinoma' 'extrahepatic bile duct adenocarcinoma' SubClassOf 'extrahepatic bile duct carcinoma' http://purl.obolibrary.org/obo/MONDO_0000005 alopecia, isolated 'alopecia, isolated' SubClassOf 'Alopecia' http://purl.obolibrary.org/obo/MONDO_0002664 extrahepatic bile duct signet ring cell carcinoma 'extrahepatic bile duct signet ring cell carcinoma' SubClassOf 'signet ring cell carcinoma' 'extrahepatic bile duct signet ring cell carcinoma' SubClassOf 'signet ring cell carcinoma' 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 'Rare genetic neurological disorder' 'congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome' SubClassOf 'Syndromic cataract' 'congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043005 'congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020225 'congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 'congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015159 http://purl.obolibrary.org/obo/MONDO_0002677 conventional fibrosarcoma 'conventional fibrosarcoma' SubClassOf 'fibrosarcoma' 'conventional fibrosarcoma' SubClassOf 'fibrosarcoma' http://purl.obolibrary.org/obo/MONDO_0000014 colorblindness, partial 'colorblindness, partial' SubClassOf 'Color-vision disease' 'colorblindness, partial' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001703 http://purl.obolibrary.org/obo/MONDO_0014654 Ullrich congenital muscular dystrophy 2 'Ullrich congenital muscular dystrophy 2' SubClassOf 'Congenital muscular dystrophy, Ullrich type' 'Ullrich congenital muscular dystrophy 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000355 http://purl.obolibrary.org/obo/MONDO_0000023 infantile liver failure 'infantile liver failure' SubClassOf 'Genetic parenchymatous liver disease' 'infantile liver failure' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015508 http://www.orpha.net/ORDO/Orphanet_319675 Microcephalic primordial dwarfism, Dauber type 'Microcephalic primordial dwarfism, Dauber type' SubClassOf 'Seckel syndrome' 'Microcephalic primordial dwarfism, Dauber type' SubClassOf 'Microcephalic primordial dwarfism' http://www.orpha.net/ORDO/Orphanet_319678 Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease 'Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease' SubClassOf 'Coenzyme Q10 deficiency' 'Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease' SubClassOf 'Coenzyme Q10 deficiency' http://purl.obolibrary.org/obo/MONDO_0014662 congenital insensitivity to pain-hypohidrosis syndrome 'congenital insensitivity to pain-hypohidrosis syndrome' SubClassOf 'Autosomal recessive hereditary sensory and autonomic neuropathy' 'congenital insensitivity to pain-hypohidrosis syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015366 http://www.orpha.net/ORDO/Orphanet_319671 Microcephalic primordial dwarfism, Alazami type 'Microcephalic primordial dwarfism, Alazami type' SubClassOf 'Microcephalic primordial dwarfism' 'Microcephalic primordial dwarfism, Alazami type' SubClassOf 'Microcephalic primordial dwarfism' http://purl.obolibrary.org/obo/MONDO_0014661 epidermolysis bullosa simplex with nail dystrophy 'epidermolysis bullosa simplex with nail dystrophy' SubClassOf 'Epidermolysis bullosa simplex' 'epidermolysis bullosa simplex with nail dystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017610 http://purl.obolibrary.org/obo/MONDO_0000030 sleep-related hypermotor epilepsy 'sleep-related hypermotor epilepsy' SubClassOf 'Familial partial epilepsy' 'sleep-related hypermotor epilepsy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017704 http://purl.obolibrary.org/obo/MONDO_0014671 neuropathy, hereditary motor and sensory, type 6B 'neuropathy, hereditary motor and sensory, type 6B' SubClassOf 'Hereditary motor and sensory neuropathy type 6' 'neuropathy, hereditary motor and sensory, type 6B' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019551 http://purl.obolibrary.org/obo/MONDO_0002475 lacrimal gland adenocarcinoma 'lacrimal gland adenocarcinoma' SubClassOf 'adenocarcinoma' 'lacrimal gland adenocarcinoma' SubClassOf 'adenocarcinoma' http://www.orpha.net/ORDO/Orphanet_163596 Hb Bart's hydrops fetalis 'Hb Bart's hydrops fetalis' SubClassOf 'Alpha-thalassemia' 'Hb Bart's hydrops fetalis' SubClassOf 'hydrops fetalis' 'Hb Bart's hydrops fetalis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0002472 carcinoma ex pleomorphic adenoma 'carcinoma ex pleomorphic adenoma' SubClassOf 'carcinoma' 'carcinoma ex pleomorphic adenoma' SubClassOf 'carcinoma' http://purl.obolibrary.org/obo/MONDO_0014455 cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome 'cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome' SubClassOf 'Syndromic cataract' 'cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome' SubClassOf 'Neurometabolic disease' 'cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome' SubClassOf 'Genetic peripheral neuropathy' 'cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome' SubClassOf 'Mitochondrial oxidative phosphorylation disorder' 'cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome' SubClassOf 'Syndromic genetic deafness' 'cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019058 'cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020225 'cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020127 'cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016387 'cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016761 'cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019589 http://purl.obolibrary.org/obo/MONDO_0014450 breasts and/or nipples, aplasia or hypoplasia of, 2 'breasts and/or nipples, aplasia or hypoplasia of, 2' SubClassOf 'isolated congenital breast hypoplasia/aplasia' 'breasts and/or nipples, aplasia or hypoplasia of, 2' SubClassOf 'isolated congenital breast hypoplasia/aplasia' http://purl.obolibrary.org/obo/MONDO_0002480 endometrioid tumor 'endometrioid tumor' SubClassOf 'female reproductive system neoplasm' 'endometrioid tumor' SubClassOf 'female reproductive system neoplasm' http://purl.obolibrary.org/obo/MONDO_0014464 progressive encephalopathy with leukodystrophy due to DECR deficiency 'progressive encephalopathy with leukodystrophy due to DECR deficiency' SubClassOf 'Neurometabolic disease' 'progressive encephalopathy with leukodystrophy due to DECR deficiency' SubClassOf 'Leukodystrophy' 'progressive encephalopathy with leukodystrophy due to DECR deficiency' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis' 'progressive encephalopathy with leukodystrophy due to DECR deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018117 'progressive encephalopathy with leukodystrophy due to DECR deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019046 'progressive encephalopathy with leukodystrophy due to DECR deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019058 http://purl.obolibrary.org/obo/MONDO_0002493 prostatic acinar adenocarcinoma 'prostatic acinar adenocarcinoma' SubClassOf 'acinar cell carcinoma' 'prostatic acinar adenocarcinoma' SubClassOf 'prostate adenocarcinoma' 'prostatic acinar adenocarcinoma' SubClassOf 'acinar cell carcinoma' 'prostatic acinar adenocarcinoma' SubClassOf 'prostate adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome 'periodic fever-infantile enterocolitis-autoinflammatory syndrome' SubClassOf 'Hereditary periodic fever syndrome' 'periodic fever-infantile enterocolitis-autoinflammatory syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017953 http://purl.obolibrary.org/obo/MONDO_0014498 familial cold autoinflammatory syndrome 4 'familial cold autoinflammatory syndrome 4' SubClassOf 'Familial cold urticaria' 'familial cold autoinflammatory syndrome 4' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018768 http://purl.obolibrary.org/obo/MONDO_0014497 polyendocrine-polyneuropathy syndrome 'polyendocrine-polyneuropathy syndrome' SubClassOf 'Congenital hypogonadotropic hypogonadism' 'polyendocrine-polyneuropathy syndrome' SubClassOf 'Autosomal recessive hereditary demyelinating motor and sensory neuropathy' 'polyendocrine-polyneuropathy syndrome' SubClassOf 'Inborn errors of metabolism' 'polyendocrine-polyneuropathy syndrome' SubClassOf 'Syndromic hypothyroidism' 'polyendocrine-polyneuropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015361 'polyendocrine-polyneuropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015770 'polyendocrine-polyneuropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019052 'polyendocrine-polyneuropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015778 http://purl.obolibrary.org/obo/MONDO_0014493 autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency 'autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency' SubClassOf 'Autoimmune lymphoproliferative syndrome' 'autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017979 http://purl.obolibrary.org/obo/UBERON_2000040 median fin fold 'median fin fold' SubClassOf 'part_of' some 'integumental system' http://www.orpha.net/ORDO/Orphanet_75501 Ehlers-Danlos syndrome, fibronectinemic type 'Ehlers-Danlos syndrome, fibronectinemic type' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, fibronectinemic type' SubClassOf 'inherited bleeding disorder, platelet-type' 'Ehlers-Danlos syndrome, fibronectinemic type' SubClassOf 'Rare genetic coagulation disorder' 'Ehlers-Danlos syndrome, fibronectinemic type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_51577 Cobblestone lissencephaly 'Cobblestone lissencephaly' SubClassOf 'Lissencephaly' 'Cobblestone lissencephaly' SubClassOf 'Lissencephaly' http://www.orpha.net/ORDO/Orphanet_87503 Mal de Meleda 'Mal de Meleda' SubClassOf 'Autosomal recessive isolated diffuse palmoplantar keratoderma' 'Mal de Meleda' SubClassOf 'Autosomal recessive isolated diffuse palmoplantar keratoderma' http://www.orpha.net/ORDO/Orphanet_75508 Angioosteohypotrophic syndrome 'Angioosteohypotrophic syndrome' SubClassOf 'Congenital vascular bone syndrome' 'Angioosteohypotrophic syndrome' SubClassOf 'Congenital vascular bone syndrome' http://www.orpha.net/ORDO/Orphanet_75563 X-linked sideroblastic anemia 'X-linked sideroblastic anemia' SubClassOf 'Constitutional sideroblastic anemia' 'X-linked sideroblastic anemia' SubClassOf 'Disorder of porphyrin and haem metabolism' 'X-linked sideroblastic anemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_307773 Autosomal dominant diffuse mutilating palmoplantar keratoderma 'Autosomal dominant diffuse mutilating palmoplantar keratoderma' SubClassOf 'Diffuse palmoplantar keratoderma' http://www.orpha.net/ORDO/Orphanet_100032 Hypocalcified amelogenesis imperfecta 'Hypocalcified amelogenesis imperfecta' SubClassOf 'Amelogenesis imperfecta' 'Hypocalcified amelogenesis imperfecta' SubClassOf 'Amelogenesis imperfecta' http://www.orpha.net/ORDO/Orphanet_100031 Hypoplastic amelogenesis imperfecta 'Hypoplastic amelogenesis imperfecta' SubClassOf 'Amelogenesis imperfecta' 'Hypoplastic amelogenesis imperfecta' SubClassOf 'Amelogenesis imperfecta' http://www.orpha.net/ORDO/Orphanet_100034 Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism 'Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism' SubClassOf 'Amelogenesis imperfecta' 'Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism' SubClassOf 'Amelogenesis imperfecta' http://www.orpha.net/ORDO/Orphanet_100033 Hypomaturation amelogenesis imperfecta 'Hypomaturation amelogenesis imperfecta' SubClassOf 'Amelogenesis imperfecta' 'Hypomaturation amelogenesis imperfecta' SubClassOf 'Amelogenesis imperfecta' http://www.orpha.net/ORDO/Orphanet_307766 Curly hair-acral keratoderma-caries syndrome 'Curly hair-acral keratoderma-caries syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Curly hair-acral keratoderma-caries syndrome' SubClassOf 'Diffuse palmoplantar keratoderma' 'Curly hair-acral keratoderma-caries syndrome' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_100006 Hereditary cerebral hemorrhage with amyloidosis, Dutch type 'Hereditary cerebral hemorrhage with amyloidosis, Dutch type' SubClassOf 'cerebral amyloid angiopathy, APP-related' http://www.orpha.net/ORDO/Orphanet_100008 Hereditary cerebral hemorrhage with amyloidosis, Icelandic type 'Hereditary cerebral hemorrhage with amyloidosis, Icelandic type' SubClassOf 'cerebral amyloid angiopathy' http://www.orpha.net/ORDO/Orphanet_100014 Lissencephaly with cerebellar hypoplasia type D 'Lissencephaly with cerebellar hypoplasia type D' SubClassOf 'Lissencephaly with cerebellar hypoplasia' 'Lissencephaly with cerebellar hypoplasia type D' SubClassOf 'Lissencephaly with cerebellar hypoplasia' http://www.orpha.net/ORDO/Orphanet_100013 Lissencephaly with cerebellar hypoplasia type C 'Lissencephaly with cerebellar hypoplasia type C' SubClassOf 'Lissencephaly with cerebellar hypoplasia' 'Lissencephaly with cerebellar hypoplasia type C' SubClassOf 'Lissencephaly with cerebellar hypoplasia' http://www.orpha.net/ORDO/Orphanet_100016 Lissencephaly with cerebellar hypoplasia type F 'Lissencephaly with cerebellar hypoplasia type F' SubClassOf 'Lissencephaly with cerebellar hypoplasia' 'Lissencephaly with cerebellar hypoplasia type F' SubClassOf 'Lissencephaly with cerebellar hypoplasia' http://www.orpha.net/ORDO/Orphanet_100015 Lissencephaly with cerebellar hypoplasia type E 'Lissencephaly with cerebellar hypoplasia type E' SubClassOf 'Lissencephaly with cerebellar hypoplasia' 'Lissencephaly with cerebellar hypoplasia type E' SubClassOf 'Lissencephaly with cerebellar hypoplasia' http://www.orpha.net/ORDO/Orphanet_100012 Lissencephaly with cerebellar hypoplasia type B 'Lissencephaly with cerebellar hypoplasia type B' SubClassOf 'Lissencephaly with cerebellar hypoplasia' 'Lissencephaly with cerebellar hypoplasia type B' SubClassOf 'Lissencephaly with cerebellar hypoplasia' http://www.orpha.net/ORDO/Orphanet_100011 Lissencephaly with cerebellar hypoplasia type A 'Lissencephaly with cerebellar hypoplasia type A' SubClassOf 'Lissencephaly with cerebellar hypoplasia' 'Lissencephaly with cerebellar hypoplasia type A' SubClassOf 'Lissencephaly with cerebellar hypoplasia' http://www.orpha.net/ORDO/Orphanet_261992 Partial monosomy of the short arm of chromosome 20 'Partial monosomy of the short arm of chromosome 20' SubClassOf 'Partial deletion of chromosome 20' 'Partial monosomy of the short arm of chromosome 20' SubClassOf 'Partial deletion of chromosome 20' http://purl.obolibrary.org/obo/MONDO_0002512 papillary adenocarcinoma 'papillary adenocarcinoma' SubClassOf 'adenocarcinoma' 'papillary adenocarcinoma' SubClassOf 'adenocarcinoma' http://www.orpha.net/ORDO/Orphanet_261974 Partial deletion of the short arm of chromosome 18 'Partial deletion of the short arm of chromosome 18' SubClassOf 'Partial deletion of chromosome 18' 'Partial deletion of the short arm of chromosome 18' SubClassOf 'syndromic disease' 'Partial deletion of the short arm of chromosome 18' SubClassOf 'Partial deletion of chromosome 18' http://www.orpha.net/ORDO/Orphanet_329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy 'Congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf 'congenital disorder of glycosylation type I' 'Congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf 'Disorder of multiple glycosylation' 'Congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf 'Congenital muscular dystrophy due to dystroglycanopathy' 'Congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf 'Disorder of multiple glycosylation' 'Congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf 'Congenital muscular dystrophy due to dystroglycanopathy' http://www.orpha.net/ORDO/Orphanet_261983 Partial deletion of the short arm of chromosome 19 'Partial deletion of the short arm of chromosome 19' SubClassOf 'Partial deletion of chromosome 19' 'Partial deletion of the short arm of chromosome 19' SubClassOf 'Partial deletion of chromosome 19' http://purl.obolibrary.org/obo/MONDO_0002516 digestive system cancer 'digestive system cancer' SubClassOf 'cancer' 'digestive system cancer' SubClassOf 'digestive system neoplasm' 'digestive system cancer' SubClassOf 'cancer' 'digestive system cancer' SubClassOf 'digestive system neoplasm' http://purl.obolibrary.org/obo/MONDO_0014506 hypomyelinating leukodystrophy 9 'hypomyelinating leukodystrophy 9' SubClassOf 'Leukodystrophy' 'hypomyelinating leukodystrophy 9' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019046 http://www.ebi.ac.uk/efo/EFO_0007507 thoracic outlet syndrome 'thoracic outlet syndrome' SubClassOf 'syndromic disease' 'thoracic outlet syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0002529 skin squamous cell carcinoma 'skin squamous cell carcinoma' SubClassOf 'skin carcinoma' 'skin squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' 'skin squamous cell carcinoma' SubClassOf 'skin carcinoma' 'skin squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' http://www.orpha.net/ORDO/Orphanet_261956 Partial deletion of the short arm of chromosome 16 'Partial deletion of the short arm of chromosome 16' SubClassOf 'Partial deletion of chromosome 16' 'Partial deletion of the short arm of chromosome 16' SubClassOf 'Partial deletion of chromosome 16' http://purl.obolibrary.org/obo/MONDO_0014518 platelet-type bleeding disorder 19 'platelet-type bleeding disorder 19' SubClassOf 'Inherited giant platelet disorder' 'platelet-type bleeding disorder 19' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016361 http://purl.obolibrary.org/obo/MONDO_0014510 fatty acyl-CoA reductase 1 deficiency 'fatty acyl-CoA reductase 1 deficiency' SubClassOf 'Neurometabolic disease' 'fatty acyl-CoA reductase 1 deficiency' SubClassOf 'Rare syndromic dyslipidemia' 'fatty acyl-CoA reductase 1 deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019058 'fatty acyl-CoA reductase 1 deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015905 http://purl.obolibrary.org/obo/MONDO_0014512 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation 'PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043005 http://purl.obolibrary.org/obo/MONDO_0002547 nerve sheath neoplasm 'nerve sheath neoplasm' SubClassOf 'tumour of cranial and spinal nerves' 'nerve sheath neoplasm' SubClassOf 'tumour of cranial and spinal nerves' http://www.ebi.ac.uk/efo/EFO_0007521 Trichomonas vaginitis 'Trichomonas vaginitis' SubClassOf 'sexually transmitted disease' 'Trichomonas vaginitis' SubClassOf 'trichomoniasis' 'Trichomonas vaginitis' SubClassOf 'sexually transmitted disease' 'Trichomonas vaginitis' SubClassOf 'trichomoniasis' http://purl.obolibrary.org/obo/MONDO_0002542 spinal cord glioma 'spinal cord glioma' SubClassOf 'malignant glioma' 'spinal cord glioma' SubClassOf 'malignant glioma' http://purl.obolibrary.org/obo/MONDO_0014528 chronic atrial and intestinal dysrhythmia 'chronic atrial and intestinal dysrhythmia' SubClassOf 'syndromic disease' 'chronic atrial and intestinal dysrhythmia' SubClassOf 'Genetic cardiac rhythm disease' 'chronic atrial and intestinal dysrhythmia' SubClassOf 'syndromic disease' 'chronic atrial and intestinal dysrhythmia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015110 http://purl.obolibrary.org/obo/MONDO_0014527 progeroid features-hepatocellular carcinoma predisposition syndrome 'progeroid features-hepatocellular carcinoma predisposition syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' 'progeroid features-hepatocellular carcinoma predisposition syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015356 http://www.ebi.ac.uk/efo/EFO_0007512 tinea pedis 'tinea pedis' SubClassOf 'dermatophytosis' 'tinea pedis' SubClassOf 'dermatophytosis' http://purl.obolibrary.org/obo/MONDO_0014532 autosomal dominant mitochondrial myopathy with exercise intolerance 'autosomal dominant mitochondrial myopathy with exercise intolerance' SubClassOf 'Mitochondrial myopathy' 'autosomal dominant mitochondrial myopathy with exercise intolerance' SubClassOf 'Mitochondrial oxidative phosphorylation disorder' 'autosomal dominant mitochondrial myopathy with exercise intolerance' SubClassOf 'Neurometabolic disease' 'autosomal dominant mitochondrial myopathy with exercise intolerance' SubClassOf 'Metabolic myopathy' 'autosomal dominant mitochondrial myopathy with exercise intolerance' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019058 'autosomal dominant mitochondrial myopathy with exercise intolerance' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020123 'autosomal dominant mitochondrial myopathy with exercise intolerance' SubClassOf http://purl.obolibrary.org/obo/MONDO_0009637 'autosomal dominant mitochondrial myopathy with exercise intolerance' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016387 http://www.ebi.ac.uk/efo/EFO_0007544 Waterhouse-Friderichsen syndrome 'Waterhouse-Friderichsen syndrome' SubClassOf 'syndromic disease' 'Waterhouse-Friderichsen syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0007547 Wissler's syndrome 'Wissler's syndrome' SubClassOf 'syndromic disease' 'Wissler's syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0007549 Zollinger-Ellison Syndrome 'Zollinger-Ellison Syndrome' SubClassOf 'neoplastic syndrome' 'Zollinger-Ellison Syndrome' SubClassOf 'neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0014548 long QT syndrome 14 'long QT syndrome 14' SubClassOf 'Familial long QT syndrome' 'long QT syndrome 14' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019171 http://purl.obolibrary.org/obo/MONDO_0002579 orbit embryonal rhabdomyosarcoma 'orbit embryonal rhabdomyosarcoma' SubClassOf 'orbit rhabdomyosarcoma' 'orbit embryonal rhabdomyosarcoma' SubClassOf 'embryonal rhabdomyosarcoma' 'orbit embryonal rhabdomyosarcoma' SubClassOf 'hereditary disorder of connective tissue' 'orbit embryonal rhabdomyosarcoma' SubClassOf 'orbit rhabdomyosarcoma' 'orbit embryonal rhabdomyosarcoma' SubClassOf 'embryonal rhabdomyosarcoma' http://www.ebi.ac.uk/efo/EFO_0007532 uterine corpus cancer 'uterine corpus cancer' SubClassOf 'corpus uteri neoplasm' 'uterine corpus cancer' SubClassOf 'uterine cancer' 'uterine corpus cancer' SubClassOf 'corpus uteri neoplasm' 'uterine corpus cancer' SubClassOf 'uterine cancer' http://www.ebi.ac.uk/efo/EFO_0007531 urogenital tuberculosis 'urogenital tuberculosis' SubClassOf 'Tuberculosis' http://www.ebi.ac.uk/efo/EFO_0007537 vestibular neuronitis 'vestibular neuronitis' SubClassOf 'head and neck disorder' http://www.orpha.net/ORDO/Orphanet_156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type 'Spondyloepimetaphyseal dysplasia, matrilin-3 type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepimetaphyseal dysplasia, matrilin-3 type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_156731 Dyssegmental dysplasia, Rolland-Desbuquois type 'Dyssegmental dysplasia, Rolland-Desbuquois type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Dyssegmental dysplasia, Rolland-Desbuquois type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_83420 Proximal spinal muscular atrophy type 4 'Proximal spinal muscular atrophy type 4' SubClassOf 'Proximal spinal muscular atrophy' 'Proximal spinal muscular atrophy type 4' SubClassOf 'Proximal spinal muscular atrophy' http://www.orpha.net/ORDO/Orphanet_83419 Proximal spinal muscular atrophy type 3 'Proximal spinal muscular atrophy type 3' SubClassOf 'Proximal spinal muscular atrophy' 'Proximal spinal muscular atrophy type 3' SubClassOf 'Proximal spinal muscular atrophy' http://www.orpha.net/ORDO/Orphanet_83418 Proximal spinal muscular atrophy type 2 'Proximal spinal muscular atrophy type 2' SubClassOf 'Proximal spinal muscular atrophy' 'Proximal spinal muscular atrophy type 2' SubClassOf 'Proximal spinal muscular atrophy' http://purl.obolibrary.org/obo/MONDO_0009816 autosomal recessive osteopetrosis 2 'autosomal recessive osteopetrosis 2' SubClassOf 'Autosomal recessive malignant osteopetrosis' 'autosomal recessive osteopetrosis 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019026 http://purl.obolibrary.org/obo/MONDO_0009815 autosomal recessive osteopetrosis 1 'autosomal recessive osteopetrosis 1' SubClassOf 'Autosomal recessive malignant osteopetrosis' 'autosomal recessive osteopetrosis 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019026 http://www.orpha.net/ORDO/Orphanet_264580 Glycogen storage disease due to liver phosphorylase kinase deficiency 'Glycogen storage disease due to liver phosphorylase kinase deficiency' SubClassOf 'has modifier' some 'rare' 'Glycogen storage disease due to liver phosphorylase kinase deficiency' SubClassOf 'liver disease' http://www.orpha.net/ORDO/Orphanet_83472 CAMOS syndrome 'CAMOS syndrome' SubClassOf 'syndromic hereditary optic neuropathy' 'CAMOS syndrome' SubClassOf 'Autosomal recessive congenital cerebellar ataxia' 'CAMOS syndrome' SubClassOf 'Autosomal recessive syndromic optic atrophy' 'CAMOS syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_83471 Thymic aplasia 'Thymic aplasia' SubClassOf 'congenital T-cell immunodeficiency' http://www.orpha.net/ORDO/Orphanet_276556 Hyperinsulinism due to UCP2 deficiency 'Hyperinsulinism due to UCP2 deficiency' SubClassOf 'Diazoxide-sensitive diffuse hyperinsulinism' 'Hyperinsulinism due to UCP2 deficiency' SubClassOf 'Diazoxide-sensitive diffuse hyperinsulinism' http://www.orpha.net/ORDO/Orphanet_83473 Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus 'Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus' SubClassOf 'overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes' 'Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus' SubClassOf 'Congenital hydrocephalus' 'Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus' SubClassOf 'Polydactyly' http://www.orpha.net/ORDO/Orphanet_71493 Familial thrombocytosis 'Familial thrombocytosis' SubClassOf 'Rare genetic coagulation disorder' 'Familial thrombocytosis' EquivalentTo 'thrombocytosis disease' and ('has modifier' some 'inherited') 'Familial thrombocytosis' SubClassOf 'thrombocytosis disease' http://www.orpha.net/ORDO/Orphanet_95488 Non-acquired pituitary hormone deficiency 'Non-acquired pituitary hormone deficiency' SubClassOf 'Pituitary deficiency' 'Non-acquired pituitary hormone deficiency' SubClassOf 'genetic endocrine growth disease' 'Non-acquired pituitary hormone deficiency' SubClassOf 'Pituitary deficiency' http://www.orpha.net/ORDO/Orphanet_83461 Congenital primary aphakia 'Congenital primary aphakia' SubClassOf 'Familial ocular anterior segment mesenchymal dysgenesis' 'Congenital primary aphakia' SubClassOf 'lens disease' 'Congenital primary aphakia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020145 'Congenital primary aphakia' SubClassOf 'Non-syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_95494 Combined pituitary hormone deficiencies, genetic forms 'Combined pituitary hormone deficiencies, genetic forms' EquivalentTo 'hypopituitarism' and ('has modifier' some 'inherited') 'Combined pituitary hormone deficiencies, genetic forms' SubClassOf 'hypopituitarism' 'Combined pituitary hormone deficiencies, genetic forms' SubClassOf 'congenital nervous system disorder' 'Combined pituitary hormone deficiencies, genetic forms' SubClassOf 'Congenital hypogonadotropic hypogonadism' 'Combined pituitary hormone deficiencies, genetic forms' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_95496 Pituitary stalk interruption syndrome 'Pituitary stalk interruption syndrome' SubClassOf 'Non-acquired pituitary hormone deficiency' 'Pituitary stalk interruption syndrome' SubClassOf 'syndromic disease' 'Pituitary stalk interruption syndrome' SubClassOf 'Non-acquired pituitary hormone deficiency' http://www.orpha.net/ORDO/Orphanet_83454 Glomuvenous malformation 'Glomuvenous malformation' SubClassOf 'Genetic vascular anomaly' 'Glomuvenous malformation' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'Glomuvenous malformation' SubClassOf 'simple vascular malformation' 'Glomuvenous malformation' SubClassOf 'Genetic neurovascular malformation' 'Glomuvenous malformation' SubClassOf 'Genetic neurovascular malformation' http://www.ebi.ac.uk/efo/EFO_1001501 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 'pulmonary fibrosis and/or bone marrow failure, telomere-related, 1' SubClassOf 'pulmonary fibrosis and/or bone marrow failure, telomere-related' 'pulmonary fibrosis and/or bone marrow failure, telomere-related, 1' SubClassOf 'pulmonary fibrosis and/or bone marrow failure, telomere-related' http://www.ebi.ac.uk/efo/EFO_1001506 primary angle closure glaucoma 'primary angle closure glaucoma' SubClassOf 'angle-closure glaucoma' 'primary angle closure glaucoma' SubClassOf 'angle-closure glaucoma' http://purl.obolibrary.org/obo/MONDO_0009855 d-bifunctional protein deficiency 'd-bifunctional protein deficiency' SubClassOf 'Peroxisomal beta-oxidation disorder' 'd-bifunctional protein deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019233 http://www.ebi.ac.uk/efo/EFO_1001512 endometrial carcinoma 'endometrial carcinoma' SubClassOf 'endometrial cancer' 'endometrial carcinoma' SubClassOf 'endometrial cancer' http://www.ebi.ac.uk/efo/EFO_1001510 specific language impairment 'specific language impairment' SubClassOf 'Rare genetic neurological disorder' 'specific language impairment' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.orpha.net/ORDO/Orphanet_95428 COG8-CDG 'COG8-CDG' SubClassOf 'Defect in conserved oligomeric Golgi complex' 'COG8-CDG' SubClassOf 'congenital nervous system disorder' 'COG8-CDG' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'COG8-CDG' SubClassOf 'congenital disorder of glycosylation type II' 'COG8-CDG' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'COG8-CDG' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_95429 Angioma serpiginosum 'Angioma serpiginosum' SubClassOf 'has modifier' some 'rare' 'Angioma serpiginosum' SubClassOf 'dermis tumor' 'Angioma serpiginosum' SubClassOf 'genetic skin disease' 'Angioma serpiginosum' SubClassOf 'capillary malformation' 'Angioma serpiginosum' SubClassOf 'skin hemangioma' 'Angioma serpiginosum' SubClassOf 'skin vascular disease' 'Angioma serpiginosum' SubClassOf 'Genetic vascular anomaly' http://www.orpha.net/ORDO/Orphanet_95430 Congenital tracheomalacia 'Congenital tracheomalacia' SubClassOf 'Genetic respiratory malformation' 'Congenital tracheomalacia' SubClassOf 'Non-syndromic respiratory or mediastinal malformation' 'Congenital tracheomalacia' SubClassOf 'tracheal disorder' 'Congenital tracheomalacia' SubClassOf 'genetic otorhinolaryngological malformation' 'Congenital tracheomalacia' SubClassOf 'Tracheal anomaly' 'Congenital tracheomalacia' SubClassOf 'Non-syndromic respiratory or mediastinal malformation' 'Congenital tracheomalacia' SubClassOf 'Tracheal anomaly' http://www.orpha.net/ORDO/Orphanet_95433 Autosomal recessive cerebellar ataxia - blindness - deafness 'Autosomal recessive cerebellar ataxia - blindness - deafness' SubClassOf 'Autosomal recessive syndromic cerebellar ataxia' 'Autosomal recessive cerebellar ataxia - blindness - deafness' SubClassOf 'Autosomal recessive syndromic cerebellar ataxia' http://www.orpha.net/ORDO/Orphanet_276598 Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency 'Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency' SubClassOf 'Diazoxide-resistant focal hyperinsulinism' 'Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency' SubClassOf 'hyperinsulinemic hypoglycemia, familial, 1' 'Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency' SubClassOf 'Diazoxide-resistant focal hyperinsulinism' http://purl.obolibrary.org/obo/MONDO_0009867 lethal congenital glycogen storage disease of heart 'lethal congenital glycogen storage disease of heart' SubClassOf 'Glycogen storage disease' 'lethal congenital glycogen storage disease of heart' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002412 http://purl.obolibrary.org/obo/MONDO_0009866 phosphoenolpyruvate carboxykinase deficiency, cytosolic 'phosphoenolpyruvate carboxykinase deficiency, cytosolic' SubClassOf 'Phosphoenolpyruvate carboxykinase deficiency' 'phosphoenolpyruvate carboxykinase deficiency, cytosolic' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017320 http://www.orpha.net/ORDO/Orphanet_95434 Autosomal recessive cerebellar ataxia - saccadic intrusion 'Autosomal recessive cerebellar ataxia - saccadic intrusion' SubClassOf 'Autosomal recessive syndromic cerebellar ataxia' 'Autosomal recessive cerebellar ataxia - saccadic intrusion' SubClassOf 'Autosomal recessive syndromic cerebellar ataxia' http://www.orpha.net/ORDO/Orphanet_276585 Diazoxide-resistant hyperinsulinism 'Diazoxide-resistant hyperinsulinism' SubClassOf 'Congenital isolated hyperinsulinism' 'Diazoxide-resistant hyperinsulinism' SubClassOf 'Congenital isolated hyperinsulinism' http://www.orpha.net/ORDO/Orphanet_276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency 'Autosomal dominant hyperinsulinism due to Kir6.2 deficiency' SubClassOf 'hyperinsulinemic hypoglycemia, familial, 2' 'Autosomal dominant hyperinsulinism due to Kir6.2 deficiency' SubClassOf 'Diazoxide-sensitive diffuse hyperinsulinism' 'Autosomal dominant hyperinsulinism due to Kir6.2 deficiency' SubClassOf 'Diazoxide-sensitive diffuse hyperinsulinism' http://www.orpha.net/ORDO/Orphanet_276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency 'Autosomal dominant hyperinsulinism due to SUR1 deficiency' SubClassOf 'Diazoxide-sensitive diffuse hyperinsulinism' 'Autosomal dominant hyperinsulinism due to SUR1 deficiency' SubClassOf 'Diazoxide-sensitive diffuse hyperinsulinism' http://purl.obolibrary.org/obo/MONDO_0007220 brachydactyly type B1 'brachydactyly type B1' SubClassOf 'Brachydactyly type B' 'brachydactyly type B1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019676 http://purl.obolibrary.org/obo/MONDO_0010888 endometriosis of uterus 'endometriosis of uterus' SubClassOf 'endometriosis' 'endometriosis of uterus' SubClassOf 'endometriosis' http://purl.obolibrary.org/obo/MONDO_0007268 hypertrophic cardiomyopathy 4 'hypertrophic cardiomyopathy 4' SubClassOf 'familial hypertrophic cardiomyopathy' 'hypertrophic cardiomyopathy 4' SubClassOf 'familial hypertrophic cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_2673 Neurofaciodigitorenal syndrome 'Neurofaciodigitorenal syndrome' SubClassOf 'congenital nervous system disorder' 'Neurofaciodigitorenal syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'Neurofaciodigitorenal syndrome' SubClassOf 'syndromic intellectual disability' 'Neurofaciodigitorenal syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Neurofaciodigitorenal syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Neurofaciodigitorenal syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Neurofaciodigitorenal syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_2671 Neu-Laxova syndrome 'Neu-Laxova syndrome' SubClassOf 'Lissencephaly type 3' 'Neu-Laxova syndrome' SubClassOf 'Autosomal ichthyosis syndrome with prominent neurologics signs' 'Neu-Laxova syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Neu-Laxova syndrome' SubClassOf '3-phosphoglycerate dehydrogenase deficiency' 'Neu-Laxova syndrome' SubClassOf 'Developmental anomaly of metabolic origin' 'Neu-Laxova syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2670 Pierson syndrome 'Pierson syndrome' SubClassOf 'LAMB2-related infantile-onset nephrotic syndrome' 'Pierson syndrome' SubClassOf 'autosomal recessive disease' 'Pierson syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_276525 Familial hyperinsulinism 'Familial hyperinsulinism' SubClassOf 'hyperinsulinemic hypoglycemia' 'Familial hyperinsulinism' EquivalentTo 'hyperinsulinism' and ('has modifier' some 'inherited') 'Familial hyperinsulinism' SubClassOf 'hyperinsulinism' http://www.orpha.net/ORDO/Orphanet_2679 Infantile axonal neuropathy 'Infantile axonal neuropathy' SubClassOf 'Genetic peripheral neuropathy' 'Infantile axonal neuropathy' SubClassOf 'Genetic peripheral neuropathy' http://www.orpha.net/ORDO/Orphanet_2678 Neurofibromatosis type 6 'Neurofibromatosis type 6' SubClassOf 'Genetic hyperpigmentation of the skin' 'Neurofibromatosis type 6' SubClassOf 'Genetic hyperpigmentation of the skin' http://www.orpha.net/ORDO/Orphanet_2676 Neuroectodermal-endocrine syndrome 'Neuroectodermal-endocrine syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Neuroectodermal-endocrine syndrome' SubClassOf 'syndromic intellectual disability' 'Neuroectodermal-endocrine syndrome' SubClassOf 'congenital nervous system disorder' 'Neuroectodermal-endocrine syndrome' SubClassOf 'polyendocrinopathy' 'Neuroectodermal-endocrine syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_2674 Cyprus facial-neuromusculoskeletal syndrome 'Cyprus facial-neuromusculoskeletal syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Cyprus facial-neuromusculoskeletal syndrome' SubClassOf 'Genetic skeletal muscle disease' 'Cyprus facial-neuromusculoskeletal syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_178145 Moderate multiminicore disease with hand involvement 'Moderate multiminicore disease with hand involvement' SubClassOf 'Multiminicore myopathy' 'Moderate multiminicore disease with hand involvement' SubClassOf 'Multiminicore myopathy' http://www.orpha.net/ORDO/Orphanet_178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita 'Antenatal multiminicore disease with arthrogryposis multiplex congenita' SubClassOf 'Multiminicore myopathy' 'Antenatal multiminicore disease with arthrogryposis multiplex congenita' SubClassOf 'Multiminicore myopathy' http://www.orpha.net/ORDO/Orphanet_2680 Hypomyelination neuropathy - arthrogryposis 'Hypomyelination neuropathy - arthrogryposis' SubClassOf 'Arthrogryposis multiplex congenita' 'Hypomyelination neuropathy - arthrogryposis' SubClassOf 'Arthrogryposis multiplex congenita' http://purl.obolibrary.org/obo/MONDO_0007289 cataract 13 with adult I phenotype 'cataract 13 with adult I phenotype' SubClassOf 'Early-onset non-syndromic cataract' 'cataract 13 with adult I phenotype' SubClassOf http://purl.obolibrary.org/obo/MONDO_0011060 http://www.orpha.net/ORDO/Orphanet_2686 Cyclic neutropenia 'Cyclic neutropenia' SubClassOf 'Constitutional neutropenia' 'Cyclic neutropenia' SubClassOf 'Constitutional neutropenia' http://purl.obolibrary.org/obo/MONDO_0007290 cataract 5 multiple types 'cataract 5 multiple types' SubClassOf 'Early-onset non-syndromic cataract' 'cataract 5 multiple types' SubClassOf http://purl.obolibrary.org/obo/MONDO_0011060 http://purl.obolibrary.org/obo/MONDO_0019263 autosomal erythropoietic protoporphyria 'autosomal erythropoietic protoporphyria' SubClassOf 'Erythropoietic protoporphyria' 'autosomal erythropoietic protoporphyria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001676 http://www.orpha.net/ORDO/Orphanet_2690 Neutropenia - monocytopenia - deafness 'Neutropenia - monocytopenia - deafness' SubClassOf 'Constitutional neutropenia' 'Neutropenia - monocytopenia - deafness' SubClassOf 'congenital nervous system disorder' 'Neutropenia - monocytopenia - deafness' SubClassOf 'Syndromic genetic deafness' 'Neutropenia - monocytopenia - deafness' SubClassOf 'Syndromic genetic deafness' http://purl.obolibrary.org/obo/MONDO_0044202 episodic kinesigenic dyskinesia 'episodic kinesigenic dyskinesia' SubClassOf 'Paroxysmal dyskinesia' 'episodic kinesigenic dyskinesia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015427 http://www.orpha.net/ORDO/Orphanet_2699 Median nodule of the upper lip 'Median nodule of the upper lip' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Median nodule of the upper lip' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome 'Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome' SubClassOf 'Syndromic genetic deafness' 'Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome' SubClassOf 'Diffuse palmoplantar keratoderma' 'Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_2697 Arthrogryposis - renal dysfunction - cholestasis 'Arthrogryposis - renal dysfunction - cholestasis' SubClassOf 'Neurogenic arthrogryposis multiplex congenita' 'Arthrogryposis - renal dysfunction - cholestasis' SubClassOf 'Syndromic urogenital tract malformation' 'Arthrogryposis - renal dysfunction - cholestasis' SubClassOf 'Disorder of bilirubin metabolism and excretion' 'Arthrogryposis - renal dysfunction - cholestasis' SubClassOf 'Developmental anomaly of metabolic origin' 'Arthrogryposis - renal dysfunction - cholestasis' SubClassOf 'Syndromic renal or urinary tract malformation' 'Arthrogryposis - renal dysfunction - cholestasis' SubClassOf 'Disorder of bilirubin metabolism and excretion' 'Arthrogryposis - renal dysfunction - cholestasis' SubClassOf 'Arthrogryposis multiplex congenita' 'Arthrogryposis - renal dysfunction - cholestasis' SubClassOf 'Syndromic renal or urinary tract malformation' http://purl.obolibrary.org/obo/MONDO_0044209 disorder of lectin complement activation pathway 'disorder of lectin complement activation pathway' SubClassOf 'Primary immunodeficiency due to a defect in innate immunity' 'disorder of lectin complement activation pathway' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015135 http://purl.obolibrary.org/obo/MONDO_0044206 otospondylomegaepiphyseal dysplasia, autosomal recessive 'otospondylomegaepiphyseal dysplasia, autosomal recessive' SubClassOf 'Otospondylomegaepiphyseal dysplasia' 'otospondylomegaepiphyseal dysplasia, autosomal recessive' SubClassOf http://purl.obolibrary.org/obo/MONDO_0008975 http://purl.obolibrary.org/obo/MONDO_0044211 idiopathic urticaria 'idiopathic urticaria' SubClassOf 'urticaria' 'idiopathic urticaria' SubClassOf 'urticaria' http://purl.obolibrary.org/obo/MONDO_0020293 ascending aorta anomaly 'ascending aorta anomaly' SubClassOf 'congenital anomaly of the great arteries' 'ascending aorta anomaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020292 http://www.orpha.net/ORDO/Orphanet_2637 Microcephalic osteodysplastic primordial dwarfism type II 'Microcephalic osteodysplastic primordial dwarfism type II' SubClassOf 'osteochondrodysplasia' 'Microcephalic osteodysplastic primordial dwarfism type II' SubClassOf 'Microcephalic primordial dwarfism' 'Microcephalic osteodysplastic primordial dwarfism type II' SubClassOf 'Syndromic obesity' 'Microcephalic osteodysplastic primordial dwarfism type II' SubClassOf 'microcephalic osteodysplastic primordial dwarfism' 'Microcephalic osteodysplastic primordial dwarfism type II' SubClassOf 'Microcephalic primordial dwarfism' 'Microcephalic osteodysplastic primordial dwarfism type II' SubClassOf 'Syndromic obesity' http://www.orpha.net/ORDO/Orphanet_2636 Microcephalic osteodysplastic primordial dwarfism types I and III 'Microcephalic osteodysplastic primordial dwarfism types I and III' SubClassOf 'Microcephalic primordial dwarfism' 'Microcephalic osteodysplastic primordial dwarfism types I and III' SubClassOf 'Microcephalic primordial dwarfism' http://www.orpha.net/ORDO/Orphanet_166119 Isolated osteopoikilosis 'Isolated osteopoikilosis' SubClassOf 'osteopoikilosis' 'Isolated osteopoikilosis' SubClassOf 'has modifier' some 'has an isolated presentation' 'Isolated osteopoikilosis' SubClassOf 'Buschke-Ollendorff syndrome' 'Isolated osteopoikilosis' EquivalentTo 'osteopoikilosis' and ('has modifier' some 'has an isolated presentation') 'Isolated osteopoikilosis' SubClassOf 'Osteopetrosis' http://www.orpha.net/ORDO/Orphanet_2635 Metatropic dysplasia 'Metatropic dysplasia' SubClassOf 'TRPV4-related bone disorder' 'Metatropic dysplasia' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Metatropic dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018240 'Metatropic dysplasia' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type 'Mesomelic dwarfism, Reinhardt-Pfeiffer type' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' 'Mesomelic dwarfism, Reinhardt-Pfeiffer type' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' http://www.orpha.net/ORDO/Orphanet_2633 Mesomelic dwarfism, Nievergelt type 'Mesomelic dwarfism, Nievergelt type' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' 'Mesomelic dwarfism, Nievergelt type' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' http://www.orpha.net/ORDO/Orphanet_34515 Autosomal recessive limb-girdle muscular dystrophy type 2I 'Autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf 'Disorder of O-mannosylglycan synthesis' 'Autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf 'myopathy caused by variation in FKRP' 'Autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf 'Qualitative or quantitative defects of FKRP' 'Autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf 'Disorder of O-mannosylglycan synthesis' 'Autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf 'Qualitative or quantitative defects of FKRP' http://www.orpha.net/ORDO/Orphanet_2632 Langer mesomelic dysplasia 'Langer mesomelic dysplasia' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' 'Langer mesomelic dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_34514 Autosomal recessive limb-girdle muscular dystrophy type 2G 'Autosomal recessive limb-girdle muscular dystrophy type 2G' SubClassOf 'Qualitative or quantitative defects of telethonin' 'Autosomal recessive limb-girdle muscular dystrophy type 2G' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2G' SubClassOf 'Qualitative or quantitative defects of telethonin' 'Autosomal recessive limb-girdle muscular dystrophy type 2G' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0020295 congenital pulmonary veins anomaly 'congenital pulmonary veins anomaly' SubClassOf 'congenital anomaly of the great veins' 'congenital pulmonary veins anomaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018185 http://www.orpha.net/ORDO/Orphanet_2631 Mesomelic dwarfism - cleft palate - camptodactyly 'Mesomelic dwarfism - cleft palate - camptodactyly' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' 'Mesomelic dwarfism - cleft palate - camptodactyly' SubClassOf 'Orofacial clefting syndrome' 'Mesomelic dwarfism - cleft palate - camptodactyly' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Mesomelic dwarfism - cleft palate - camptodactyly' SubClassOf 'Orofacial clefting syndrome' 'Mesomelic dwarfism - cleft palate - camptodactyly' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' 'Mesomelic dwarfism - cleft palate - camptodactyly' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_166100 Stickler syndrome type 3 'Stickler syndrome type 3' SubClassOf 'disease has feature' some 'collagenopathy' 'Stickler syndrome type 3' SubClassOf 'congenital nervous system disorder' 'Stickler syndrome type 3' SubClassOf 'Orofacial clefting syndrome' 'Stickler syndrome type 3' SubClassOf 'Otospondylomegaepiphyseal dysplasia' 'Stickler syndrome type 3' SubClassOf 'Syndromic genetic deafness' 'Stickler syndrome type 3' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Stickler syndrome type 3' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Stickler syndrome type 3' SubClassOf 'Type 11 collagen-related bone disorder' 'Stickler syndrome type 3' SubClassOf 'Orofacial clefting syndrome' 'Stickler syndrome type 3' SubClassOf 'Syndromic genetic deafness' 'Stickler syndrome type 3' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_166105 FASTKD2-related infantile mitochondrial encephalomyopathy 'FASTKD2-related infantile mitochondrial encephalomyopathy' SubClassOf 'Neurometabolic disease' 'FASTKD2-related infantile mitochondrial encephalomyopathy' SubClassOf 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' 'FASTKD2-related infantile mitochondrial encephalomyopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_166108 Intellectual disability, Birk-Barel type 'Intellectual disability, Birk-Barel type' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Intellectual disability, Birk-Barel type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2646 Parastremmatic dwarfism 'Parastremmatic dwarfism' SubClassOf 'Bent bone dysplasia' 'Parastremmatic dwarfism' SubClassOf 'TRPV4-related bone disorder' 'Parastremmatic dwarfism' SubClassOf 'Bent bone dysplasia' 'Parastremmatic dwarfism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018240 http://www.orpha.net/ORDO/Orphanet_2645 Osteoglophonic dwarfism 'Osteoglophonic dwarfism' SubClassOf 'musculoskeletal system disease' 'Osteoglophonic dwarfism' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0020286 aortic malformation 'aortic malformation' SubClassOf 'congenital anomaly of the great arteries' 'aortic malformation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020292 http://www.orpha.net/ORDO/Orphanet_2643 Microcephalic primordial dwarfism, Toriello type 'Microcephalic primordial dwarfism, Toriello type' SubClassOf 'Microcephalic primordial dwarfism' 'Microcephalic primordial dwarfism, Toriello type' SubClassOf 'Microcephalic primordial dwarfism' http://www.orpha.net/ORDO/Orphanet_2641 Micromelic dwarfism, Fryns type 'Micromelic dwarfism, Fryns type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Micromelic dwarfism, Fryns type' SubClassOf 'Spondylometaphyseal dysplasia' 'Micromelic dwarfism, Fryns type' SubClassOf 'Spondylometaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_2639 Fibular aplasia - complex brachydactyly 'Fibular aplasia - complex brachydactyly' SubClassOf 'Acromesomelic dysplasia' 'Fibular aplasia - complex brachydactyly' SubClassOf 'Genetic syndrome with limb reduction defects' 'Fibular aplasia - complex brachydactyly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2650 Dwarfism - intellectual disability - eye abnormality 'Dwarfism - intellectual disability - eye abnormality' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_34533 Corneal dystrophy 'Corneal dystrophy' SubClassOf 'has modifier' some 'rare' 'Corneal dystrophy' SubClassOf 'corneal disease' 'Corneal dystrophy' SubClassOf 'corneal disease' http://www.orpha.net/ORDO/Orphanet_2658 Lenz-Majewski hyperostotic dwarfism 'Lenz-Majewski hyperostotic dwarfism' SubClassOf 'congenital nervous system disorder' 'Lenz-Majewski hyperostotic dwarfism' SubClassOf 'syndromic intellectual disability' 'Lenz-Majewski hyperostotic dwarfism' SubClassOf 'Primary bone dysplasia with increased bone density' 'Lenz-Majewski hyperostotic dwarfism' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Lenz-Majewski hyperostotic dwarfism' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Lenz-Majewski hyperostotic dwarfism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2655 Thanatophoric dysplasia 'Thanatophoric dysplasia' SubClassOf 'osteochondrodysplasia' 'Thanatophoric dysplasia' SubClassOf 'FGFR3-related chondrodysplasia' 'Thanatophoric dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019685 http://www.orpha.net/ORDO/Orphanet_168796 Heart-hand syndrome, Slovenian type 'Heart-hand syndrome, Slovenian type' SubClassOf 'Heart-hand syndrome' 'Heart-hand syndrome, Slovenian type' SubClassOf 'autosomal dominant disease' 'Heart-hand syndrome, Slovenian type' SubClassOf 'Heart-hand syndrome' http://www.orpha.net/ORDO/Orphanet_2653 Osteochondrodysplatic nanism - deafness - retinitis pigmentosa 'Osteochondrodysplatic nanism - deafness - retinitis pigmentosa' SubClassOf 'Syndromic genetic deafness' 'Osteochondrodysplatic nanism - deafness - retinitis pigmentosa' SubClassOf 'Syndromic retinitis pigmentosa' 'Osteochondrodysplatic nanism - deafness - retinitis pigmentosa' SubClassOf 'Syndromic retinitis pigmentosa' 'Osteochondrodysplatic nanism - deafness - retinitis pigmentosa' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_34528 Autosomal dominant primary hypomagnesemia with hypocalciuria 'Autosomal dominant primary hypomagnesemia with hypocalciuria' SubClassOf 'Familial primary hypomagnesemia with hypocalcuria' 'Autosomal dominant primary hypomagnesemia with hypocalciuria' SubClassOf 'Familial primary hypomagnesemia with hypocalcuria' http://www.orpha.net/ORDO/Orphanet_34527 Familial primary hypomagnesemia with normocalciuria and normocalcemia 'Familial primary hypomagnesemia with normocalciuria and normocalcemia' SubClassOf 'Familial primary hypomagnesemia with normocalcuria' 'Familial primary hypomagnesemia with normocalciuria and normocalcemia' SubClassOf 'Familial primary hypomagnesemia with normocalcuria' http://www.orpha.net/ORDO/Orphanet_2662 Keipert syndrome 'Keipert syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Keipert syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_168782 Childhood disintegrative disorder 'Childhood disintegrative disorder' SubClassOf 'has modifier' some 'rare' 'Childhood disintegrative disorder' SubClassOf 'pervasive developmental disorder' http://www.orpha.net/ORDO/Orphanet_2669 Nephrosis - deafness - urinary tract - digital malformations 'Nephrosis - deafness - urinary tract - digital malformations' SubClassOf 'congenital nervous system disorder' 'Nephrosis - deafness - urinary tract - digital malformations' SubClassOf 'Syndromic urogenital tract malformation' 'Nephrosis - deafness - urinary tract - digital malformations' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Nephrosis - deafness - urinary tract - digital malformations' SubClassOf 'Syndromic renal or urinary tract malformation' 'Nephrosis - deafness - urinary tract - digital malformations' SubClassOf 'Syndromic genetic deafness' 'Nephrosis - deafness - urinary tract - digital malformations' SubClassOf 'Syndromic urogenital tract malformation' 'Nephrosis - deafness - urinary tract - digital malformations' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Nephrosis - deafness - urinary tract - digital malformations' SubClassOf 'Syndromic renal or urinary tract malformation' 'Nephrosis - deafness - urinary tract - digital malformations' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_34521 Distal myopathy with early respiratory muscle involvement 'Distal myopathy with early respiratory muscle involvement' SubClassOf 'Autosomal dominant distal myopathy' 'Distal myopathy with early respiratory muscle involvement' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2668 Nephropathy-deafness-hyperparathyroidism syndrome 'Nephropathy-deafness-hyperparathyroidism syndrome' SubClassOf 'Syndromic genetic deafness' 'Nephropathy-deafness-hyperparathyroidism syndrome' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_34520 Congenital muscular dystrophy with integrin alpha-7 deficiency 'Congenital muscular dystrophy with integrin alpha-7 deficiency' SubClassOf 'Qualitative or quantitative defects of integrin alpha-7' 'Congenital muscular dystrophy with integrin alpha-7 deficiency' SubClassOf 'Congenital muscular dystrophy' 'Congenital muscular dystrophy with integrin alpha-7 deficiency' SubClassOf 'Qualitative or quantitative defects of integrin alpha-7' 'Congenital muscular dystrophy with integrin alpha-7 deficiency' SubClassOf 'Congenital muscular dystrophy' http://www.orpha.net/ORDO/Orphanet_2666 Adult familial nephronophthisis - spastic quadriparesia 'Adult familial nephronophthisis - spastic quadriparesia' SubClassOf 'Familial cystic renal disease' 'Adult familial nephronophthisis - spastic quadriparesia' SubClassOf 'Familial cystic renal disease' http://www.orpha.net/ORDO/Orphanet_34526 Familial primary hypomagnesemia 'Familial primary hypomagnesemia' SubClassOf 'inborn metal metabolism disorder' 'Familial primary hypomagnesemia' SubClassOf 'Genetic renal tubular disease' 'Familial primary hypomagnesemia' SubClassOf 'Disorder of magnesium transport' 'Familial primary hypomagnesemia' SubClassOf 'Genetic renal tubular disease' 'Familial primary hypomagnesemia' SubClassOf 'Disorder of magnesium transport' http://www.orpha.net/ORDO/Orphanet_2663 Nathalie syndrome 'Nathalie syndrome' SubClassOf 'Syndromic cataract' 'Nathalie syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Nathalie syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_34517 Autosomal dominant limb-girdle muscular dystrophy type 1E 'Autosomal dominant limb-girdle muscular dystrophy type 1E' SubClassOf 'Autosomal dominant limb-girdle muscular dystrophy' 'Autosomal dominant limb-girdle muscular dystrophy type 1E' SubClassOf 'Qualitative or quantitative defects of desmin' 'Autosomal dominant limb-girdle muscular dystrophy type 1E' SubClassOf 'Autosomal dominant limb-girdle muscular dystrophy' http://www.orpha.net/ORDO/Orphanet_34516 Autosomal dominant limb-girdle muscular dystrophy type 1D 'Autosomal dominant limb-girdle muscular dystrophy type 1D' SubClassOf 'Autosomal dominant limb-girdle muscular dystrophy' 'Autosomal dominant limb-girdle muscular dystrophy type 1D' SubClassOf 'Autosomal dominant limb-girdle muscular dystrophy' http://www.orpha.net/ORDO/Orphanet_2604 Familial visceral myopathy 'Familial visceral myopathy' SubClassOf 'visceral myopathy' 'Familial visceral myopathy' SubClassOf 'intestinal motility disease' http://www.orpha.net/ORDO/Orphanet_2601 Myopathy - growth delay - intellectual disability - hypospadias 'Myopathy - growth delay - intellectual disability - hypospadias' SubClassOf 'Syndromic urogenital tract malformation' 'Myopathy - growth delay - intellectual disability - hypospadias' SubClassOf 'syndromic intellectual disability' 'Myopathy - growth delay - intellectual disability - hypospadias' SubClassOf 'Syndromic urogenital tract malformation' http://www.orpha.net/ORDO/Orphanet_227535 Hereditary breast cancer 'Hereditary breast cancer' SubClassOf 'breast carcinoma' 'Hereditary breast cancer' SubClassOf 'genetic disorder' 'Hereditary breast cancer' EquivalentTo 'breast carcinoma' and ('has modifier' some 'inherited') 'Hereditary breast cancer' SubClassOf 'disease has feature' some 'breast carcinoma' 'Hereditary breast cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016419 http://www.orpha.net/ORDO/Orphanet_2615 Nakajo-Nishimura syndrome 'Nakajo-Nishimura syndrome' SubClassOf 'Proteasome disability syndrome' 'Nakajo-Nishimura syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2614 Nail-patella syndrome 'Nail-patella syndrome' SubClassOf 'Patellar dysostosis' 'Nail-patella syndrome' SubClassOf 'autosomal dominant disease' 'Nail-patella syndrome' SubClassOf 'Syndromic nail anomaly' 'Nail-patella syndrome' SubClassOf 'Patellar dysostosis' 'Nail-patella syndrome' SubClassOf 'Syndromic nail anomaly' http://www.orpha.net/ORDO/Orphanet_2613 Nail-patella-like renal disease 'Nail-patella-like renal disease' SubClassOf 'Primary glomerular disease' 'Nail-patella-like renal disease' SubClassOf 'Primary glomerular disease' http://www.orpha.net/ORDO/Orphanet_2612 Linear nevus sebaceus syndrome 'Linear nevus sebaceus syndrome' SubClassOf 'Palpebral nevus' 'Linear nevus sebaceus syndrome' SubClassOf 'Bulbar conjunctival dermoid or conjunctival dermolipoma' 'Linear nevus sebaceus syndrome' SubClassOf 'developmental defect during embryogenesis' 'Linear nevus sebaceus syndrome' SubClassOf 'Benign Conjunctival Neoplasm' 'Linear nevus sebaceus syndrome' SubClassOf 'Genetic skin tumor' 'Linear nevus sebaceus syndrome' SubClassOf 'hamartoma' 'Linear nevus sebaceus syndrome' SubClassOf 'genetic skin disease' 'Linear nevus sebaceus syndrome' SubClassOf 'Genetic skin tumor' 'Linear nevus sebaceus syndrome' SubClassOf 'melanocytic nevus' 'Linear nevus sebaceus syndrome' SubClassOf 'hamartoma' http://www.orpha.net/ORDO/Orphanet_2609 Isolated NADH-CoQ reductase deficiency 'Isolated NADH-CoQ reductase deficiency' SubClassOf 'Neurometabolic disease' 'Isolated NADH-CoQ reductase deficiency' SubClassOf 'Mitochondrial myopathy' 'Isolated NADH-CoQ reductase deficiency' SubClassOf 'X-linked syndromic intellectual disability' 'Isolated NADH-CoQ reductase deficiency' SubClassOf 'Isolated oxidative phosphorylation complex disorder' 'Isolated NADH-CoQ reductase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2608 N syndrome 'N syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'N syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' 'N syndrome' SubClassOf 'Syndromic genetic deafness' 'N syndrome' SubClassOf 'congenital nervous system disorder' 'N syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2623 Geleophysic dysplasia 'Geleophysic dysplasia' SubClassOf 'Acromelic dysplasia' 'Geleophysic dysplasia' SubClassOf 'Acromelic dysplasia' http://www.orpha.net/ORDO/Orphanet_2619 Brachydactylous dwarfism, Mseleni type 'Brachydactylous dwarfism, Mseleni type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Brachydactylous dwarfism, Mseleni type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_2617 Bird headed-dwarfism, Montreal type 'Bird headed-dwarfism, Montreal type' SubClassOf 'Microcephalic primordial dwarfism' 'Bird headed-dwarfism, Montreal type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Bird headed-dwarfism, Montreal type' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' http://www.orpha.net/ORDO/Orphanet_2616 3M syndrome '3M syndrome' SubClassOf 'autosomal recessive disease' '3M syndrome' SubClassOf 'Slender bone dysplasia' '3M syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' '3M syndrome' SubClassOf 'Slender bone dysplasia' '3M syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_46532 Hereditary persistence of fetal hemoglobin - beta-thalassemia 'Hereditary persistence of fetal hemoglobin - beta-thalassemia' SubClassOf 'Beta-thalassemia and related diseases' http://www.orpha.net/ORDO/Orphanet_97927 Peripheral resistance to thyroid hormones 'Peripheral resistance to thyroid hormones' SubClassOf 'Peripheral hypothyroidism' 'Peripheral resistance to thyroid hormones' SubClassOf 'Peripheral hypothyroidism' http://www.orpha.net/ORDO/Orphanet_46348 Paroxysmal extreme pain disorder 'Paroxysmal extreme pain disorder' SubClassOf 'Rare genetic neurological disorder' 'Paroxysmal extreme pain disorder' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_156607 Genetic biliary tract disease 'Genetic biliary tract disease' SubClassOf 'has modifier' some 'rare' 'Genetic biliary tract disease' SubClassOf 'liver disease' 'Genetic biliary tract disease' SubClassOf 'biliary tract disease' 'Genetic biliary tract disease' EquivalentTo 'biliary tract disease' and ('has modifier' some 'inherited') 'Genetic biliary tract disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015509 http://www.orpha.net/ORDO/Orphanet_97945 Intestinal malformation 'Intestinal malformation' SubClassOf 'Genetic digestive tract malformation' 'Intestinal malformation' SubClassOf 'Genetic digestive tract malformation' http://www.orpha.net/ORDO/Orphanet_97944 Gastroduodenal malformation 'Gastroduodenal malformation' SubClassOf 'Genetic digestive tract malformation' 'Gastroduodenal malformation' SubClassOf 'Genetic digestive tract malformation' http://purl.obolibrary.org/obo/UBERON_0001003 skin epidermis 'skin epidermis' SubClassOf 'part_of' some 'integumental system' http://www.orpha.net/ORDO/Orphanet_156604 Genetic parenchymatous liver disease 'Genetic parenchymatous liver disease' SubClassOf 'has modifier' some 'rare' 'Genetic parenchymatous liver disease' SubClassOf 'liver disease' http://purl.obolibrary.org/obo/UBERON_6005425 insect visual anlage in statu nascendi 'insect visual anlage in statu nascendi' SubClassOf 'Drosophila embryonic structure' 'insect visual anlage in statu nascendi' SubClassOf 'insect anlage in statu nascendi' 'insect visual anlage in statu nascendi' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_276432 Premature aging appearance-developmental delay-cardiac arrhythmia syndrome 'Premature aging appearance-developmental delay-cardiac arrhythmia syndrome' SubClassOf 'NAA10-related syndrome' 'Premature aging appearance-developmental delay-cardiac arrhythmia syndrome' SubClassOf 'progeroid syndrome' 'Premature aging appearance-developmental delay-cardiac arrhythmia syndrome' SubClassOf 'Genetic progeroid syndrome' 'Premature aging appearance-developmental delay-cardiac arrhythmia syndrome' SubClassOf 'progeroid syndrome' http://www.orpha.net/ORDO/Orphanet_276435 Lower motor neuron syndrome with late-adult onset 'Lower motor neuron syndrome with late-adult onset' SubClassOf 'Autosomal dominant proximal spinal muscular atrophy' 'Lower motor neuron syndrome with late-adult onset' SubClassOf 'Autosomal dominant proximal spinal muscular atrophy' http://purl.obolibrary.org/obo/MONDO_0009703 myopathy with abnormal lipid metabolism 'myopathy with abnormal lipid metabolism' SubClassOf 'Muscular lipidosis' 'myopathy with abnormal lipid metabolism' SubClassOf 'genetic disorder' 'myopathy with abnormal lipid metabolism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016117 http://purl.obolibrary.org/obo/MONDO_0009709 myopathy, centronuclear, 2 'myopathy, centronuclear, 2' SubClassOf 'Autosomal recessive centronuclear myopathy' 'myopathy, centronuclear, 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015705 http://www.orpha.net/ORDO/Orphanet_264450 Trisomy 8p 'Trisomy 8p' SubClassOf 'Partial duplication of the short arm of chromosome 8' 'Trisomy 8p' SubClassOf 'Partial duplication of the short arm of chromosome 8' http://www.orpha.net/ORDO/Orphanet_276422 10q22.3q23.3 microduplication syndrome '10q22.3q23.3 microduplication syndrome' SubClassOf 'Partial duplication of the long arm of chromosome 10' '10q22.3q23.3 microduplication syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_276413 10q22.3q23.3 microdeletion syndrome '10q22.3q23.3 microdeletion syndrome' SubClassOf 'Partial monosomy of the long arm of chromosome 10' '10q22.3q23.3 microdeletion syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_83330 Proximal spinal muscular atrophy type 1 'Proximal spinal muscular atrophy type 1' SubClassOf 'Proximal spinal muscular atrophy' 'Proximal spinal muscular atrophy type 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_264431 Partial duplication of the short arm of chromosome 1 'Partial duplication of the short arm of chromosome 1' SubClassOf 'Partial duplication of chromosome 1' 'Partial duplication of the short arm of chromosome 1' SubClassOf 'Partial duplication of chromosome 1' http://www.ebi.ac.uk/efo/EFO_0001663 prostate carcinoma 'prostate carcinoma' SubClassOf 'prostate cancer' 'prostate carcinoma' SubClassOf 'carcinoma' 'prostate carcinoma' SubClassOf 'prostate cancer' 'prostate carcinoma' SubClassOf 'carcinoma' http://purl.obolibrary.org/obo/MONDO_0010752 VACTERL association, X-linked, with or without hydrocephalus 'VACTERL association, X-linked, with or without hydrocephalus' SubClassOf 'VACTERL/VATER association' 'VACTERL association, X-linked, with or without hydrocephalus' SubClassOf 'VACTERL with hydrocephalus' 'VACTERL association, X-linked, with or without hydrocephalus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0010172 'VACTERL association, X-linked, with or without hydrocephalus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008 'VACTERL association, X-linked, with or without hydrocephalus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0008642 http://www.orpha.net/ORDO/Orphanet_2596 Myopathy and diabetes mellitus 'Myopathy and diabetes mellitus' SubClassOf 'has modifier' some 'rare' 'Myopathy and diabetes mellitus' SubClassOf 'Maternally-inherited mitochondrial myopathy' 'Myopathy and diabetes mellitus' SubClassOf 'Mitochondrial myopathy' 'Myopathy and diabetes mellitus' SubClassOf 'Muscular lipidosis' 'Myopathy and diabetes mellitus' SubClassOf 'diabetes mellitus' 'Myopathy and diabetes mellitus' SubClassOf 'Maternally-inherited mitochondrial myopathy' 'Myopathy and diabetes mellitus' SubClassOf 'Muscular lipidosis' http://www.orpha.net/ORDO/Orphanet_166078 Von Willebrand disease type 1 'Von Willebrand disease type 1' SubClassOf 'Von Willebrand disease' 'Von Willebrand disease type 1' SubClassOf 'Von Willebrand disease' http://www.orpha.net/ORDO/Orphanet_2593 Tubular aggregate myopathy 'Tubular aggregate myopathy' SubClassOf 'Congenital myopathy' 'Tubular aggregate myopathy' SubClassOf 'Congenital myopathy' http://purl.obolibrary.org/obo/MONDO_0022752 chromosome 16p13.3 deletion syndrome 'chromosome 16p13.3 deletion syndrome' SubClassOf 'Rubinstein-Taybi syndrome' 'chromosome 16p13.3 deletion syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 16' 'chromosome 16p13.3 deletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019188 'chromosome 16p13.3 deletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016894 http://www.orpha.net/ORDO/Orphanet_2591 Infantile myofibromatosis 'Infantile myofibromatosis' SubClassOf 'benign perivascular tumor' 'Infantile myofibromatosis' SubClassOf 'muscular tumor' 'Infantile myofibromatosis' SubClassOf 'Genetic soft tissue tumor' 'Infantile myofibromatosis' SubClassOf 'benign soft tissue neoplasm' 'Infantile myofibromatosis' SubClassOf 'hereditary disorder of connective tissue' 'Infantile myofibromatosis' SubClassOf 'Genetic skin tumor' 'Infantile myofibromatosis' SubClassOf 'benign neoplasm of skin' 'Infantile myofibromatosis' SubClassOf 'Genetic soft tissue tumor' 'Infantile myofibromatosis' SubClassOf 'benign neoplasm' 'Infantile myofibromatosis' SubClassOf 'Soft Tissue Neoplasm' 'Infantile myofibromatosis' SubClassOf 'Genetic skin tumor' http://www.orpha.net/ORDO/Orphanet_2590 Hereditary myoclonus - progressive distal muscular atrophy 'Hereditary myoclonus - progressive distal muscular atrophy' SubClassOf 'movement disorder' 'Hereditary myoclonus - progressive distal muscular atrophy' SubClassOf 'Progressive epilepsy and/or ataxia with myoclonus as a major feature' 'Hereditary myoclonus - progressive distal muscular atrophy' SubClassOf 'variable age onset epilepsy' 'Hereditary myoclonus - progressive distal muscular atrophy' SubClassOf 'Genetic motor neuron disease' 'Hereditary myoclonus - progressive distal muscular atrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020074 http://purl.obolibrary.org/obo/MONDO_0022754 chromosome 17p deletion 'chromosome 17p deletion' SubClassOf 'Partial deletion of chromosome 17' 'chromosome 17p deletion' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016879 http://www.orpha.net/ORDO/Orphanet_166073 Pontocerebellar hypoplasia type 6 'Pontocerebellar hypoplasia type 6' SubClassOf 'Non-syndromic pontocerebellar hypoplasia' 'Pontocerebellar hypoplasia type 6' SubClassOf 'Non-syndromic pontocerebellar hypoplasia' http://purl.obolibrary.org/obo/MONDO_0009776 spermatogenic failure 1 'spermatogenic failure 1' SubClassOf 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' 'spermatogenic failure 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018393 http://www.orpha.net/ORDO/Orphanet_2598 Mitochondrial myopathy and sideroblastic anemia 'Mitochondrial myopathy and sideroblastic anemia' SubClassOf 'Constitutional sideroblastic anemia' 'Mitochondrial myopathy and sideroblastic anemia' SubClassOf 'Mitochondrial myopathy' 'Mitochondrial myopathy and sideroblastic anemia' SubClassOf 'Constitutional sideroblastic anemia' 'Mitochondrial myopathy and sideroblastic anemia' SubClassOf 'Mitochondrial myopathy' http://www.orpha.net/ORDO/Orphanet_2597 Mitochondrial myopathy - lactic acidosis - deafness 'Mitochondrial myopathy - lactic acidosis - deafness' SubClassOf 'Mitochondrial myopathy' 'Mitochondrial myopathy - lactic acidosis - deafness' SubClassOf 'Syndromic genetic deafness' 'Mitochondrial myopathy - lactic acidosis - deafness' SubClassOf 'Mitochondrial myopathy' 'Mitochondrial myopathy - lactic acidosis - deafness' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_166063 Pontocerebellar hypoplasia type 4 'Pontocerebellar hypoplasia type 4' SubClassOf 'Non-syndromic pontocerebellar hypoplasia' 'Pontocerebellar hypoplasia type 4' SubClassOf 'Non-syndromic pontocerebellar hypoplasia' http://www.orpha.net/ORDO/Orphanet_166068 Pontocerebellar hypoplasia type 5 'Pontocerebellar hypoplasia type 5' SubClassOf 'Non-syndromic pontocerebellar hypoplasia' 'Pontocerebellar hypoplasia type 5' SubClassOf 'Non-syndromic pontocerebellar hypoplasia' http://www.orpha.net/ORDO/Orphanet_166093 Von Willebrand disease type 2N 'Von Willebrand disease type 2N' SubClassOf 'Von Willebrand disease type 2' 'Von Willebrand disease type 2N' SubClassOf 'Von Willebrand disease type 2' http://www.orpha.net/ORDO/Orphanet_166096 Von Willebrand disease type 3 'Von Willebrand disease type 3' SubClassOf 'Von Willebrand disease' 'Von Willebrand disease type 3' SubClassOf 'Von Willebrand disease' http://www.orpha.net/ORDO/Orphanet_178040 Peripheral precocious puberty 'central precocious puberty' DisjointWith 'Peripheral precocious puberty' 'Peripheral precocious puberty' SubClassOf 'precocious puberty' http://www.orpha.net/ORDO/Orphanet_166090 Von Willebrand disease type 2M 'Von Willebrand disease type 2M' SubClassOf 'Von Willebrand disease type 2' 'Von Willebrand disease type 2M' SubClassOf 'Von Willebrand disease type 2' http://www.orpha.net/ORDO/Orphanet_166087 Von Willebrand disease type 2B 'Von Willebrand disease type 2B' SubClassOf 'Von Willebrand disease type 2' 'Von Willebrand disease type 2B' SubClassOf 'Von Willebrand disease type 2' http://purl.obolibrary.org/obo/MONDO_0022760 chromosome 22q deletion 'chromosome 22q deletion' SubClassOf 'Partial autosomal monosomy' http://purl.obolibrary.org/obo/MONDO_0022762 chromosome 4 short arm deletion 'chromosome 4 short arm deletion' SubClassOf 'Partial deletion of chromosome 4' 'chromosome 4 short arm deletion' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016869 http://www.orpha.net/ORDO/Orphanet_166084 Von Willebrand disease type 2A 'Von Willebrand disease type 2A' SubClassOf 'Von Willebrand disease type 2' 'Von Willebrand disease type 2A' SubClassOf 'Von Willebrand disease type 2' http://www.orpha.net/ORDO/Orphanet_166081 Von Willebrand disease type 2 'Von Willebrand disease type 2' SubClassOf 'Von Willebrand disease' 'Von Willebrand disease type 2' SubClassOf 'Von Willebrand disease' http://www.orpha.net/ORDO/Orphanet_166032 Multiple epiphyseal dysplasia, with miniepiphyses 'Multiple epiphyseal dysplasia, with miniepiphyses' SubClassOf 'Multiple epiphyseal dysplasia' 'Multiple epiphyseal dysplasia, with miniepiphyses' SubClassOf 'Multiple epiphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_2551 Microspherophakia - metaphyseal dysplasia 'Microspherophakia - metaphyseal dysplasia' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_276405 Hyperbiliverdinemia 'Hyperbiliverdinemia' SubClassOf 'liver disease' 'Hyperbiliverdinemia' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0020134 cystic malformation of the posterior fossa 'cystic malformation of the posterior fossa' SubClassOf 'Genetic posterior fossa malformation' 'cystic malformation of the posterior fossa' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020133 http://www.orpha.net/ORDO/Orphanet_2558 Mikati-Najjar-Sahli syndrome 'Mikati-Najjar-Sahli syndrome' SubClassOf 'syndromic disease' 'Mikati-Najjar-Sahli syndrome' SubClassOf 'Rare disorder with hypergonadotropic hypogonadism' 'Mikati-Najjar-Sahli syndrome' SubClassOf 'has modifier' some 'rare' 'Mikati-Najjar-Sahli syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2557 Mietens syndrome 'Mietens syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' 'Mietens syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Mietens syndrome' SubClassOf 'Syndromic corneal dystrophy' 'Mietens syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2556 Microphthalmia with linear skin defects syndrome 'Microphthalmia with linear skin defects syndrome' SubClassOf 'Syndromic microphthalmia' 'Microphthalmia with linear skin defects syndrome' SubClassOf 'mixed dermis disorder' 'Microphthalmia with linear skin defects syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Microphthalmia with linear skin defects syndrome' SubClassOf 'Syndromic anorectal malformation' 'Microphthalmia with linear skin defects syndrome' SubClassOf 'genetic skin disease' 'Microphthalmia with linear skin defects syndrome' SubClassOf 'Syndromic microphthalmia' 'Microphthalmia with linear skin defects syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 'Microphthalmia with linear skin defects syndrome' SubClassOf 'Syndromic anorectal malformation' http://www.orpha.net/ORDO/Orphanet_166035 Metaphyseal chondrodysplasia - retinitis pigmentosa 'Metaphyseal chondrodysplasia - retinitis pigmentosa' SubClassOf 'Multiple metaphyseal dysplasia' 'Metaphyseal chondrodysplasia - retinitis pigmentosa' SubClassOf 'Multiple metaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0007152 arrhythmogenic right ventricular dysplasia 1 'arrhythmogenic right ventricular dysplasia 1' SubClassOf 'Familial isolated arrhythmogenic right ventricular dysplasia' 'arrhythmogenic right ventricular dysplasia 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016342 http://purl.obolibrary.org/obo/MONDO_0020130 malformation of the cerebellar vermis 'malformation of the cerebellar vermis' SubClassOf 'Genetic cerebellar malformation' 'malformation of the cerebellar vermis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015915 http://www.orpha.net/ORDO/Orphanet_166038 Metaphyseal chondrodysplasia, Kaitila type 'Metaphyseal chondrodysplasia, Kaitila type' SubClassOf 'Multiple metaphyseal dysplasia' 'Metaphyseal chondrodysplasia, Kaitila type' SubClassOf 'Multiple metaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_2554 Ear-patella-short stature syndrome 'Ear-patella-short stature syndrome' SubClassOf 'autosomal recessive disease' 'Ear-patella-short stature syndrome' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Ear-patella-short stature syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Ear-patella-short stature syndrome' SubClassOf 'Patellar dysostosis' 'Ear-patella-short stature syndrome' SubClassOf 'Microcephalic primordial dwarfism' 'Ear-patella-short stature syndrome' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Ear-patella-short stature syndrome' SubClassOf 'Patellar dysostosis' 'Ear-patella-short stature syndrome' SubClassOf 'Microcephalic primordial dwarfism' http://purl.obolibrary.org/obo/MONDO_0019139 acquired hemophilia 'acquired hemophilia' EquivalentTo 'Hemophilia' and ('has modifier' some 'acquired') 'acquired hemophilia' SubClassOf 'Hemophilia' 'acquired hemophilia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018660 'acquired hemophilia' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0018660 and ('has modifier' some 'acquired') http://www.orpha.net/ORDO/Orphanet_2563 MOMO syndrome 'MOMO syndrome' SubClassOf 'Syndromic obesity' 'MOMO syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2561 Ackerman syndrome 'Ackerman syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Ackerman syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Ackerman syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Ackerman syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2560 Möbius syndrome - axonal neuropathy - hypogonadotropic hypogonadism 'Möbius syndrome - axonal neuropathy - hypogonadotropic hypogonadism' SubClassOf 'Congenital hypogonadotropic hypogonadism' http://purl.obolibrary.org/obo/MONDO_0020125 acquired neuromuscular junction disease 'acquired neuromuscular junction disease' EquivalentTo 'Genetic neuromuscular junction disease' and ('has modifier' some 'acquired') 'acquired neuromuscular junction disease' SubClassOf 'Genetic neuromuscular junction disease' 'acquired neuromuscular junction disease' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0020124 and ('has modifier' some 'acquired') 'acquired neuromuscular junction disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020124 http://www.orpha.net/ORDO/Orphanet_166029 Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia 'Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia' SubClassOf 'Multiple epiphyseal dysplasia' 'Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia' SubClassOf 'Multiple epiphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_166024 Multiple epiphyseal dysplasia, Al-Gazali type 'Multiple epiphyseal dysplasia, Al-Gazali type' SubClassOf 'Multiple epiphyseal dysplasia' 'Multiple epiphyseal dysplasia, Al-Gazali type' SubClassOf 'Multiple epiphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_2565 Mononen-Karnes-Senac syndrome 'Mononen-Karnes-Senac syndrome' SubClassOf 'congenital limb malformation' 'Mononen-Karnes-Senac syndrome' SubClassOf 'Syndrome with brachydactyly' 'Mononen-Karnes-Senac syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2564 Tetramelic monodactyly 'Tetramelic monodactyly' SubClassOf 'Dysostosis of genetic origin' 'Tetramelic monodactyly' SubClassOf 'congenital limb malformation' http://purl.obolibrary.org/obo/MONDO_0019142 inherited porphyria 'inherited porphyria' EquivalentTo 'Porphyria' and ('has modifier' some 'inherited') 'inherited porphyria' SubClassOf 'Disorder of porphyrin and haem metabolism' 'inherited porphyria' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'inherited porphyria' SubClassOf 'Metabolic disease with skin involvement' 'inherited porphyria' SubClassOf 'Genetic photodermatosis' 'inherited porphyria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0037939 'inherited porphyria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017754 'inherited porphyria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015951 'inherited porphyria' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0037939 and ('has modifier' some 'inherited') http://www.orpha.net/ORDO/Orphanet_2574 Moynahan syndrome 'Moynahan syndrome' SubClassOf 'Epilepsy syndrome' 'Moynahan syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Moynahan syndrome' SubClassOf 'Genetic hyperpigmentation of the skin' 'Moynahan syndrome' SubClassOf 'syndromic intellectual disability' 'Moynahan syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2573 Moyamoya disease 'Moyamoya disease' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'Moyamoya disease' SubClassOf 'Moyomoya angiopathy' 'Moyamoya disease' SubClassOf 'cerebral arterial disease' 'Moyamoya disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2572 Spastic ataxia - corneal dystrophy 'Spastic ataxia - corneal dystrophy' SubClassOf 'Syndromic corneal dystrophy' 'Spastic ataxia - corneal dystrophy' SubClassOf 'Autosomal recessive spastic ataxia' 'Spastic ataxia - corneal dystrophy' SubClassOf 'Syndromic corneal dystrophy' 'Spastic ataxia - corneal dystrophy' SubClassOf 'Autosomal recessive spastic ataxia' http://www.orpha.net/ORDO/Orphanet_2571 X-linked immunoneurologic disorder 'X-linked immunoneurologic disorder' SubClassOf 'Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells' 'X-linked immunoneurologic disorder' SubClassOf 'X-linked disease' 'X-linked immunoneurologic disorder' SubClassOf 'Immunodeficiency predominantly affecting antibody production' 'X-linked immunoneurologic disorder' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2579 Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus 'Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus' SubClassOf 'eye degenerative disorder' 'Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus' SubClassOf 'hereditary ataxia' 'Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus' SubClassOf 'Syndromic retinitis pigmentosa' 'Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus' SubClassOf 'Syndromic retinitis pigmentosa' http://www.orpha.net/ORDO/Orphanet_2578 MURCS association 'MURCS association' SubClassOf 'Syndromic anorectal malformation' 'MURCS association' SubClassOf 'Mayer-Rokitansky-Küster-Hauser syndrome' 'MURCS association' SubClassOf 'disease has feature' some 'Klippel-Feil syndrome' 'MURCS association' SubClassOf 'Syndromic anorectal malformation' 'MURCS association' SubClassOf 'Mayer-Rokitansky-Küster-Hauser syndrome' http://www.orpha.net/ORDO/Orphanet_2576 MULIBREY nanism 'MULIBREY nanism' SubClassOf 'autosomal recessive disease' 'MULIBREY nanism' SubClassOf 'disorder of development or morphogenesis' 'MULIBREY nanism' SubClassOf 'syndromic disease' 'MULIBREY nanism' SubClassOf 'disorder of defective peroxisome oxidative status' http://www.orpha.net/ORDO/Orphanet_2575 Cystic fibrosis - gastritis - megaloblastic anemia 'Cystic fibrosis - gastritis - megaloblastic anemia' SubClassOf 'Genetic gastro-esophageal disease' 'Cystic fibrosis - gastritis - megaloblastic anemia' SubClassOf 'Genetic gastro-esophageal disease' http://purl.obolibrary.org/obo/MONDO_0007182 Machado-Joseph disease 'Machado-Joseph disease' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Machado-Joseph disease' SubClassOf 'Huntington disease-like syndrome' 'Machado-Joseph disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019792 'Machado-Joseph disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015548 http://www.orpha.net/ORDO/Orphanet_2585 Ataxia - pancytopenia 'Ataxia - pancytopenia' SubClassOf 'disorder of medulla oblongata' 'Ataxia - pancytopenia' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_2580 Shoulder and girdle defects - familial intellectual disability 'Shoulder and girdle defects - familial intellectual disability' SubClassOf 'has modifier' some 'rare' 'Shoulder and girdle defects - familial intellectual disability' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0020147 anophthalmia-microphthalmia syndrome 'anophthalmia-microphthalmia syndrome' SubClassOf 'Major induction processes eye anomaly' 'anophthalmia-microphthalmia syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020146 http://purl.obolibrary.org/obo/MONDO_0020143 cerebral lipidosis with dementia 'cerebral lipidosis with dementia' SubClassOf 'Genetic dementia' 'cerebral lipidosis with dementia' SubClassOf 'Lipid storage disease' 'cerebral lipidosis with dementia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015547 'cerebral lipidosis with dementia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019245 http://www.orpha.net/ORDO/Orphanet_2589 Myoclonus - cerebellar ataxia - deafness 'Myoclonus - cerebellar ataxia - deafness' SubClassOf 'Syndromic genetic deafness' 'Myoclonus - cerebellar ataxia - deafness' SubClassOf 'hereditary ataxia' 'Myoclonus - cerebellar ataxia - deafness' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_2588 Myhre syndrome 'Myhre syndrome' SubClassOf 'Acromelic dysplasia' 'Myhre syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Myhre syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Myhre syndrome' SubClassOf 'congenital nervous system disorder' 'Myhre syndrome' SubClassOf 'syndromic intellectual disability' 'Myhre syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2587 Myeloperoxidase deficiency 'Myeloperoxidase deficiency' SubClassOf 'Functional neutrophil defect' 'Myeloperoxidase deficiency' SubClassOf 'defective phagocytic cell engulfment' 'Myeloperoxidase deficiency' SubClassOf 'Functional neutrophil defect' http://purl.obolibrary.org/obo/MONDO_0019165 central precocious puberty 'central precocious puberty' DisjointWith 'Peripheral precocious puberty' http://purl.obolibrary.org/obo/MONDO_0015791 DisjointWith 'central precocious puberty' http://www.orpha.net/ORDO/Orphanet_2516 Microcephaly - cardiac defect - lung malsegmentation 'Microcephaly - cardiac defect - lung malsegmentation' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Microcephaly - cardiac defect - lung malsegmentation' SubClassOf 'heart disease' 'Microcephaly - cardiac defect - lung malsegmentation' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_2515 Microcephaly - cardiomyopathy 'Microcephaly - cardiomyopathy' SubClassOf 'syndromic intellectual disability' 'Microcephaly - cardiomyopathy' SubClassOf 'congenital nervous system disorder' 'Microcephaly - cardiomyopathy' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Microcephaly - cardiomyopathy' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_2514 Autosomal dominant microcephaly 'Autosomal dominant microcephaly' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Autosomal dominant microcephaly' SubClassOf 'Isolated congenital microcephaly' 'Autosomal dominant microcephaly' SubClassOf 'intellectual disability, autosomal dominant' 'Autosomal dominant microcephaly' SubClassOf 'Isolated congenital microcephaly' http://www.orpha.net/ORDO/Orphanet_2513 Microcephaly - albinism - digital anomalies 'Microcephaly - albinism - digital anomalies' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Microcephaly - albinism - digital anomalies' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_2512 Autosomal recessive primary microcephaly 'Autosomal recessive primary microcephaly' SubClassOf 'autosomal recessive disease' 'Autosomal recessive primary microcephaly' SubClassOf 'Nervous system anomaly with eye involvement' 'Autosomal recessive primary microcephaly' SubClassOf 'Isolated congenital microcephaly' 'Autosomal recessive primary microcephaly' SubClassOf 'Genetic neuro-ophthalmological disease' 'Autosomal recessive primary microcephaly' SubClassOf 'Isolated congenital microcephaly' 'Autosomal recessive primary microcephaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015368 http://www.orpha.net/ORDO/Orphanet_2511 Microbrachycephaly - ptosis - cleft lip 'Microbrachycephaly - ptosis - cleft lip' SubClassOf 'congenital nervous system disorder' 'Microbrachycephaly - ptosis - cleft lip' SubClassOf 'Orofacial clefting syndrome' 'Microbrachycephaly - ptosis - cleft lip' SubClassOf 'syndromic intellectual disability' 'Microbrachycephaly - ptosis - cleft lip' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Microbrachycephaly - ptosis - cleft lip' SubClassOf 'Orofacial clefting syndrome' 'Microbrachycephaly - ptosis - cleft lip' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_2510 Micro syndrome 'Micro syndrome' SubClassOf 'autosomal recessive disease' 'Micro syndrome' SubClassOf 'Syndromic microphthalmia' 'Micro syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Micro syndrome' SubClassOf 'Lissencephaly' 'Micro syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Micro syndrome' SubClassOf 'Syndromic microphthalmia' http://www.orpha.net/ORDO/Orphanet_2508 Micrencephaly - corpus callosum agenesis - abnormal genitalia 'Micrencephaly - corpus callosum agenesis - abnormal genitalia' SubClassOf 'Syndromic urogenital tract malformation' 'Micrencephaly - corpus callosum agenesis - abnormal genitalia' SubClassOf 'ARX-related epileptic encephalopathy' 'Micrencephaly - corpus callosum agenesis - abnormal genitalia' SubClassOf 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' 'Micrencephaly - corpus callosum agenesis - abnormal genitalia' SubClassOf 'X-linked syndromic intellectual disability' 'Micrencephaly - corpus callosum agenesis - abnormal genitalia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_308013 Focal acral hyperkeratosis 'Focal acral hyperkeratosis' SubClassOf 'Marginal papular palmoplantar keratoderma' 'Focal acral hyperkeratosis' SubClassOf 'Marginal papular palmoplantar keratoderma' http://www.orpha.net/ORDO/Orphanet_2526 Microcephaly - lymphedema - chorioretinopathy 'Microcephaly - lymphedema - chorioretinopathy' SubClassOf 'Syndromic lymphedema' 'Microcephaly - lymphedema - chorioretinopathy' SubClassOf 'Milroy disease' 'Microcephaly - lymphedema - chorioretinopathy' SubClassOf 'Syndrome with microcephaly as major feature' 'Microcephaly - lymphedema - chorioretinopathy' SubClassOf 'Retinal dystrophy' 'Microcephaly - lymphedema - chorioretinopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2524 Pontocerebellar hypoplasia type 2 'Pontocerebellar hypoplasia type 2' SubClassOf 'Non-syndromic pontocerebellar hypoplasia' 'Pontocerebellar hypoplasia type 2' SubClassOf 'Bulbospinal muscular atrophy' 'Pontocerebellar hypoplasia type 2' SubClassOf 'Non-syndromic pontocerebellar hypoplasia' http://www.orpha.net/ORDO/Orphanet_2523 Microcephaly - brain defect - spasticity - hypernatremia 'Microcephaly - brain defect - spasticity - hypernatremia' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_2522 Microcephaly - cervical spine fusion anomalies 'Microcephaly - cervical spine fusion anomalies' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Microcephaly - cervical spine fusion anomalies' SubClassOf 'syndromic intellectual disability' 'Microcephaly - cervical spine fusion anomalies' SubClassOf 'congenital nervous system disorder' 'Microcephaly - cervical spine fusion anomalies' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_2521 Microcephaly - cleft palate 'Microcephaly - cleft palate' SubClassOf 'congenital nervous system disorder' 'Microcephaly - cleft palate' SubClassOf 'syndromic intellectual disability' 'Microcephaly - cleft palate' SubClassOf 'Orofacial clefting syndrome' 'Microcephaly - cleft palate' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Microcephaly - cleft palate' SubClassOf 'Orofacial clefting syndrome' 'Microcephaly - cleft palate' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_2519 Microcephaly - seizures - intellectual disability - heart disease 'Microcephaly - seizures - intellectual disability - heart disease' SubClassOf 'congenital nervous system disorder' 'Microcephaly - seizures - intellectual disability - heart disease' SubClassOf 'syndromic intellectual disability' 'Microcephaly - seizures - intellectual disability - heart disease' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Microcephaly - seizures - intellectual disability - heart disease' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_2518 Autosomal recessive chorioretinopathy-microcephaly 'Autosomal recessive chorioretinopathy-microcephaly' SubClassOf 'Nervous system anomaly with eye involvement' 'Autosomal recessive chorioretinopathy-microcephaly' SubClassOf 'Retinal dystrophy' 'Autosomal recessive chorioretinopathy-microcephaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_166011 Multiple epiphyseal dysplasia, Beighton type 'Multiple epiphyseal dysplasia, Beighton type' SubClassOf 'hereditary disorder of connective tissue' 'Multiple epiphyseal dysplasia, Beighton type' SubClassOf 'type 2 collagenopathy' 'Multiple epiphyseal dysplasia, Beighton type' SubClassOf 'Multiple epiphyseal dysplasia' 'Multiple epiphyseal dysplasia, Beighton type' SubClassOf 'Multiple epiphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_2536 Microcornea - glaucoma - absent frontal sinuses 'Microcornea - glaucoma - absent frontal sinuses' SubClassOf 'eye disease' http://www.orpha.net/ORDO/Orphanet_2535 Microcornea - corectopia - macular hypoplasia 'Microcornea - corectopia - macular hypoplasia' SubClassOf 'eye disease' http://www.orpha.net/ORDO/Orphanet_2533 Microcephaly - deafness - intellectual disability 'Microcephaly - deafness - intellectual disability' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Microcephaly - deafness - intellectual disability' SubClassOf 'syndromic intellectual disability' 'Microcephaly - deafness - intellectual disability' SubClassOf 'congenital nervous system disorder' 'Microcephaly - deafness - intellectual disability' SubClassOf 'Syndromic genetic deafness' 'Microcephaly - deafness - intellectual disability' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Microcephaly - deafness - intellectual disability' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_166016 Multiple epiphyseal dysplasia, Lowry type 'Multiple epiphyseal dysplasia, Lowry type' SubClassOf 'Multiple epiphyseal dysplasia' 'Multiple epiphyseal dysplasia, Lowry type' SubClassOf 'Multiple epiphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_2528 Microcephaly-microcornea syndrome, Seemanova type 'Microcephaly-microcornea syndrome, Seemanova type' SubClassOf 'Genetic developmental defect of the eye' 'Microcephaly-microcornea syndrome, Seemanova type' SubClassOf 'congenital nervous system disorder' 'Microcephaly-microcornea syndrome, Seemanova type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Microcephaly-microcornea syndrome, Seemanova type' SubClassOf 'syndromic intellectual disability' 'Microcephaly-microcornea syndrome, Seemanova type' SubClassOf 'Genetic developmental defect of the eye' 'Microcephaly-microcornea syndrome, Seemanova type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_2549 Oculoauriculovertebral spectrum with radial defects 'Oculoauriculovertebral spectrum with radial defects' SubClassOf 'Dysostosis of genetic origin' 'Oculoauriculovertebral spectrum with radial defects' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Oculoauriculovertebral spectrum with radial defects' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Oculoauriculovertebral spectrum with radial defects' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Oculoauriculovertebral spectrum with radial defects' SubClassOf 'Genetic branchial arch or oral-acral syndrome' http://www.orpha.net/ORDO/Orphanet_166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly 'Multiple epiphyseal dysplasia due to collagen 9 anomaly' SubClassOf 'Multiple epiphyseal dysplasia' 'Multiple epiphyseal dysplasia due to collagen 9 anomaly' SubClassOf 'Multiple epiphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_2542 Isolated anophthalmia - microphthalmia 'Isolated anophthalmia - microphthalmia' SubClassOf 'Non-syndromic developmental defect of the eye' 'Isolated anophthalmia - microphthalmia' EquivalentTo 'anophthalmia-microphthalmia syndrome' and ('has modifier' some 'has an isolated presentation') 'Isolated anophthalmia - microphthalmia' SubClassOf 'anophthalmia-microphthalmia syndrome' 'Isolated anophthalmia - microphthalmia' SubClassOf 'Anophthalmia - microphthalmia' 'Isolated anophthalmia - microphthalmia' SubClassOf 'Non-syndromic developmental defect of the eye' 'Isolated anophthalmia - microphthalmia' SubClassOf 'anophthalmia-microphthalmia syndrome' http://www.orpha.net/ORDO/Orphanet_156629 Genetic hypertension 'Genetic hypertension' SubClassOf 'hypertension' 'Genetic hypertension' EquivalentTo 'hypertension' and ('has modifier' some 'inherited') 'Genetic hypertension' SubClassOf 'has modifier' some 'rare' 'Genetic hypertension' SubClassOf 'kidney disease' http://www.orpha.net/ORDO/Orphanet_168609 Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure 'Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure' SubClassOf 'Postlingual non-syndromic genetic deafness' 'Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure' SubClassOf 'Postlingual non-syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_168606 Seborrhea-like dermatitis with psoriasiform elements 'Seborrhea-like dermatitis with psoriasiform elements' SubClassOf 'epidermal disease' 'Seborrhea-like dermatitis with psoriasiform elements' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_168601 Congenital enteropathy due to enteropeptidase deficiency 'Congenital enteropathy due to enteropeptidase deficiency' SubClassOf 'has modifier' some 'congenital' 'Congenital enteropathy due to enteropeptidase deficiency' SubClassOf 'digestive system disease' http://www.orpha.net/ORDO/Orphanet_156622 Genetic urogenital tract malformation 'Genetic urogenital tract malformation' SubClassOf 'has modifier' some 'rare' 'Genetic urogenital tract malformation' SubClassOf 'developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_168632 Generalized basaloid follicular hamartoma syndrome 'Generalized basaloid follicular hamartoma syndrome' SubClassOf 'Genetic skin tumor' 'Generalized basaloid follicular hamartoma syndrome' SubClassOf 'Genetic skin tumor' http://www.orpha.net/ORDO/Orphanet_168629 Autosomal thrombocytopenia with normal platelets 'Autosomal thrombocytopenia with normal platelets' SubClassOf 'Hereditary thrombocytopenia with normal platelets' 'Autosomal thrombocytopenia with normal platelets' SubClassOf 'Hereditary thrombocytopenia with normal platelets' http://www.orpha.net/ORDO/Orphanet_2505 Multiple benign circumferential skin creases on limbs 'Multiple benign circumferential skin creases on limbs' SubClassOf 'skin disease' 'Multiple benign circumferential skin creases on limbs' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_2504 Metaphyseal dysplasia - maxillary hypoplasia - brachydacty 'Metaphyseal dysplasia - maxillary hypoplasia - brachydacty' SubClassOf 'Multiple metaphyseal dysplasia' 'Metaphyseal dysplasia - maxillary hypoplasia - brachydacty' SubClassOf 'Multiple metaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_168624 Familial scaphocephaly syndrome, McGillivray type 'Familial scaphocephaly syndrome, McGillivray type' SubClassOf 'Familial scaphocephaly syndrome' 'Familial scaphocephaly syndrome, McGillivray type' SubClassOf 'Syndromic craniosynostosis' http://www.orpha.net/ORDO/Orphanet_2502 Metaphyseal dysostosis - intellectual disability - conductive deafness 'Metaphyseal dysostosis - intellectual disability - conductive deafness' SubClassOf 'Syndromic genetic deafness' 'Metaphyseal dysostosis - intellectual disability - conductive deafness' SubClassOf 'syndromic intellectual disability' 'Metaphyseal dysostosis - intellectual disability - conductive deafness' SubClassOf 'Multiple metaphyseal dysplasia' 'Metaphyseal dysostosis - intellectual disability - conductive deafness' SubClassOf 'Syndromic genetic deafness' 'Metaphyseal dysostosis - intellectual disability - conductive deafness' SubClassOf 'Multiple metaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_2501 Metaphyseal chondrodysplasia, Spahr type 'Metaphyseal chondrodysplasia, Spahr type' SubClassOf 'Multiple metaphyseal dysplasia' 'Metaphyseal chondrodysplasia, Spahr type' SubClassOf 'Multiple metaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_2500 Acrogeria 'Acrogeria' SubClassOf 'Premature aging' 'Acrogeria' SubClassOf 'genetic skin disease' 'Acrogeria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019303 http://www.orpha.net/ORDO/Orphanet_168621 Dysplasia of head of femur, Meyer type 'Dysplasia of head of femur, Meyer type' SubClassOf 'Multiple epiphyseal dysplasia and pseudoachondroplasia' 'Dysplasia of head of femur, Meyer type' SubClassOf 'Multiple epiphyseal dysplasia and pseudoachondroplasia' http://www.orpha.net/ORDO/Orphanet_83639 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency 'Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency' SubClassOf 'Rare genetic coagulation disorder' 'Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency' SubClassOf 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' 'Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency' SubClassOf 'congenital hematological disorder' 'Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency' SubClassOf 'congenital nervous system disorder' 'Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency' SubClassOf 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' http://www.ebi.ac.uk/efo/EFO_1001316 Eosinophilia-Myalgia Syndrome 'Eosinophilia-Myalgia Syndrome' SubClassOf 'Hypereosinophilic syndrome' 'Eosinophilia-Myalgia Syndrome' SubClassOf 'Hypereosinophilic syndrome' http://www.orpha.net/ORDO/Orphanet_2802 X-linked sideroblastic anemia with ataxia 'X-linked sideroblastic anemia with ataxia' SubClassOf 'Unspecified mitochondrial disorder' 'X-linked sideroblastic anemia with ataxia' SubClassOf 'Constitutional sideroblastic anemia' 'X-linked sideroblastic anemia with ataxia' SubClassOf 'X-linked cerebellar ataxia' 'X-linked sideroblastic anemia with ataxia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001324 Fascioliasis 'Fascioliasis' SubClassOf 'Helminthiasis' 'Fascioliasis' SubClassOf 'Helminthiasis' http://www.orpha.net/ORDO/Orphanet_2801 Juvenile Paget disease 'Juvenile Paget disease' SubClassOf 'osteitis deformans' http://www.orpha.net/ORDO/Orphanet_83629 Leukoencephalopathy - metaphyseal chondrodysplasia 'Leukoencephalopathy - metaphyseal chondrodysplasia' SubClassOf 'Genetic neurodegenerative disease' 'Leukoencephalopathy - metaphyseal chondrodysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_83628 PELVIS syndrome 'PELVIS syndrome' SubClassOf 'Syndromic anorectal malformation' 'PELVIS syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'PELVIS syndrome' SubClassOf 'vascular neoplasm' 'PELVIS syndrome' SubClassOf 'Syndromic anorectal malformation' 'PELVIS syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_83620 Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells 'Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells' SubClassOf 'congenital diarrhea' 'Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells' SubClassOf 'Congenital enteropathy involving intestinal mucosa development' 'Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells' SubClassOf 'Congenital enteropathy involving intestinal mucosa development' http://www.orpha.net/ORDO/Orphanet_313892 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 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_2812 Parana hard-skin syndrome 'Parana hard-skin syndrome' SubClassOf 'Unclassified genetic skin disorder' 'Parana hard-skin syndrome' SubClassOf 'syndromic disease' 'Parana hard-skin syndrome' SubClassOf 'skin disease' 'Parana hard-skin syndrome' SubClassOf 'genetic skin disease' 'Parana hard-skin syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001333 Glycogen Storage Disease Type 2b 'Glycogen Storage Disease Type 2b' SubClassOf 'Muscular glycogenosis' 'Glycogen Storage Disease Type 2b' SubClassOf 'Lysosomal glycogen storage disease' 'Glycogen Storage Disease Type 2b' SubClassOf 'Glycogen storage disease' 'Glycogen Storage Disease Type 2b' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016118 'Glycogen Storage Disease Type 2b' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002412 'Glycogen Storage Disease Type 2b' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017738 http://www.ebi.ac.uk/efo/EFO_1001331 Genital neoplasm, female 'Genital neoplasm, female' SubClassOf 'female reproductive system neoplasm' 'Genital neoplasm, female' SubClassOf 'reproductive system cancer' 'Genital neoplasm, female' SubClassOf 'female reproductive system neoplasm' 'Genital neoplasm, female' SubClassOf 'reproductive system cancer' http://www.orpha.net/ORDO/Orphanet_2809 Familial recurrent peripheral facial palsy 'Familial recurrent peripheral facial palsy' SubClassOf 'Genetic peripheral neuropathy' 'Familial recurrent peripheral facial palsy' SubClassOf 'Genetic peripheral neuropathy' 'Familial recurrent peripheral facial palsy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.orpha.net/ORDO/Orphanet_83617 Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis 'Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis' SubClassOf 'congenital nervous system disorder' 'Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis' SubClassOf 'congenital agammaglobulinemia' 'Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis' SubClassOf 'genetic skin disease' 'Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis' SubClassOf 'syndromic intellectual disability' 'Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis' SubClassOf 'Syndromic agammaglobulinemia' 'Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis' SubClassOf 'Syndromic agammaglobulinemia' http://www.orpha.net/ORDO/Orphanet_83619 Macrostomia - preauricular tags - external ophthalmoplegia 'Macrostomia - preauricular tags - external ophthalmoplegia' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Macrostomia - preauricular tags - external ophthalmoplegia' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_2805 Partial pancreatic agenesis 'Partial pancreatic agenesis' SubClassOf 'Non-syndromic visceral malformation' 'Partial pancreatic agenesis' SubClassOf 'Non-syndromic visceral malformation' http://www.orpha.net/ORDO/Orphanet_2804 W syndrome 'W syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'W syndrome' SubClassOf 'Epilepsy syndrome' 'W syndrome' SubClassOf 'congenital nervous system disorder' 'W syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'W syndrome' SubClassOf 'Orofacial clefting syndrome' 'W syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'W syndrome' SubClassOf 'Epilepsy syndrome' 'W syndrome' SubClassOf 'Orofacial clefting syndrome' 'W syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 http://www.orpha.net/ORDO/Orphanet_2824 Paraplegia - intellectual disability - hyperkeratosis 'Paraplegia - intellectual disability - hyperkeratosis' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Paraplegia - intellectual disability - hyperkeratosis' SubClassOf 'X-linked syndromic intellectual disability' 'Paraplegia - intellectual disability - hyperkeratosis' SubClassOf 'congenital nervous system disorder' 'Paraplegia - intellectual disability - hyperkeratosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 'Paraplegia - intellectual disability - hyperkeratosis' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.ebi.ac.uk/efo/EFO_1001345 Hepatitis, Alcoholic 'Hepatitis, Alcoholic' SubClassOf 'alcoholic liver disease' 'Hepatitis, Alcoholic' SubClassOf 'alcoholic liver disease' http://www.orpha.net/ORDO/Orphanet_2822 Autosomal recessive spastic paraplegia type 11 'Autosomal recessive spastic paraplegia type 11' SubClassOf 'syndromic intellectual disability' 'Autosomal recessive spastic paraplegia type 11' SubClassOf 'Complex hereditary spastic paraplegia' 'Autosomal recessive spastic paraplegia type 11' SubClassOf 'Pure or complex autosomal recessive spastic paraplegia' 'Autosomal recessive spastic paraplegia type 11' SubClassOf 'Pure or complex autosomal recessive spastic paraplegia' http://www.ebi.ac.uk/efo/EFO_1001344 Hemarthrosis 'Hemarthrosis' SubClassOf 'limb disorder' http://www.orpha.net/ORDO/Orphanet_2821 Spastic paraplegia - neuropathy - poikiloderma 'Spastic paraplegia - neuropathy - poikiloderma' SubClassOf 'Autosomal dominant complex spastic paraplegia' 'Spastic paraplegia - neuropathy - poikiloderma' SubClassOf 'Autosomal dominant complex spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_2820 Spastic paraplegia - nephritis - deafness 'Spastic paraplegia - nephritis - deafness' SubClassOf 'syndromic intellectual disability' 'Spastic paraplegia - nephritis - deafness' SubClassOf 'intellectual disability, autosomal dominant' 'Spastic paraplegia - nephritis - deafness' SubClassOf 'Syndromic renal or urinary tract malformation' 'Spastic paraplegia - nephritis - deafness' SubClassOf 'Syndromic genetic deafness' 'Spastic paraplegia - nephritis - deafness' SubClassOf 'Syndromic urogenital tract malformation' 'Spastic paraplegia - nephritis - deafness' SubClassOf 'Autosomal dominant complex spastic paraplegia' 'Spastic paraplegia - nephritis - deafness' SubClassOf 'Syndromic renal or urinary tract malformation' 'Spastic paraplegia - nephritis - deafness' SubClassOf 'Syndromic genetic deafness' 'Spastic paraplegia - nephritis - deafness' SubClassOf 'Autosomal dominant complex spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_2819 Spastic paraplegia - facial-cutaneous lesions 'Spastic paraplegia - facial-cutaneous lesions' SubClassOf 'Autosomal dominant complex spastic paraplegia' 'Spastic paraplegia - facial-cutaneous lesions' SubClassOf 'Autosomal dominant complex spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_2818 Spastic paraplegia - glaucoma - intellectual disability 'Spastic paraplegia - glaucoma - intellectual disability' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Spastic paraplegia - glaucoma - intellectual disability' SubClassOf 'syndromic intellectual disability' 'Spastic paraplegia - glaucoma - intellectual disability' SubClassOf 'Autosomal recessive complex spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_2816 Spastic paraplegia - epilepsy - intellectual disability 'Spastic paraplegia - epilepsy - intellectual disability' SubClassOf 'Autosomal dominant complex spastic paraplegia' 'Spastic paraplegia - epilepsy - intellectual disability' SubClassOf 'syndromic intellectual disability' 'Spastic paraplegia - epilepsy - intellectual disability' SubClassOf 'intellectual disability, autosomal dominant' 'Spastic paraplegia - epilepsy - intellectual disability' SubClassOf 'Autosomal dominant complex spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_2815 Spastic paraparesis - deafness 'Spastic paraparesis - deafness' SubClassOf 'Syndromic genetic deafness' 'Spastic paraparesis - deafness' SubClassOf 'Syndromic genetic deafness' http://www.ebi.ac.uk/efo/EFO_1001354 Kleine-Levin Syndrome 'Kleine-Levin Syndrome' SubClassOf 'syndromic disease' 'Kleine-Levin Syndrome' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_313884 12p12.1 microdeletion syndrome '12p12.1 microdeletion syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 12' '12p12.1 microdeletion syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_313850 Infantile cerebellar-retinal degeneration 'Infantile cerebellar-retinal degeneration' SubClassOf 'Retinal dystrophy' 'Infantile cerebellar-retinal degeneration' SubClassOf 'Neurometabolic disease' 'Infantile cerebellar-retinal degeneration' SubClassOf 'eye degenerative disorder' 'Infantile cerebellar-retinal degeneration' SubClassOf 'Tricarboxylic acid cycle disorder' 'Infantile cerebellar-retinal degeneration' SubClassOf 'Genetic neurodegenerative disease' 'Infantile cerebellar-retinal degeneration' SubClassOf 'Retinal dystrophy' 'Infantile cerebellar-retinal degeneration' SubClassOf 'Neurometabolic disease' 'Infantile cerebellar-retinal degeneration' SubClassOf 'Tricarboxylic acid cycle disorder' 'Infantile cerebellar-retinal degeneration' SubClassOf 'Genetic neurodegenerative disease' http://www.ebi.ac.uk/efo/EFO_1001379 neuroleptic malignant syndrome 'neuroleptic malignant syndrome' SubClassOf 'syndromic disease' 'neuroleptic malignant syndrome' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_313855 FGFR2-related bent bone dysplasia 'FGFR2-related bent bone dysplasia' SubClassOf 'Bent bone dysplasia' 'FGFR2-related bent bone dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001380 Niemann-Pick disease 'Niemann-Pick disease' SubClassOf 'Sphingolipidosis' 'Niemann-Pick disease' SubClassOf 'Sphingolipidosis' 'Niemann-Pick disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019255 http://www.ebi.ac.uk/efo/EFO_1001388 Pelvic Inflammatory Disease 'Pelvic Inflammatory Disease' SubClassOf 'abdominal and pelvic region disorder' http://www.orpha.net/ORDO/Orphanet_83642 Microcytic anemia with liver iron overload 'Microcytic anemia with liver iron overload' SubClassOf 'Disorder of iron metabolism and transport' 'Microcytic anemia with liver iron overload' SubClassOf 'anemia, hypochromic microcytic with iron overload' 'Microcytic anemia with liver iron overload' SubClassOf 'Disorder of iron metabolism and transport' http://www.orpha.net/ORDO/Orphanet_83648 X-linked recessive intellectual disability - macrocephaly - ciliary dysfunction 'X-linked recessive intellectual disability - macrocephaly - ciliary dysfunction' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked recessive intellectual disability - macrocephaly - ciliary dysfunction' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 http://www.orpha.net/ORDO/Orphanet_262164 Partial deletion of the long arm of chromosome 20 'Partial deletion of the long arm of chromosome 20' SubClassOf 'Partial deletion of chromosome 20' 'Partial deletion of the long arm of chromosome 20' SubClassOf 'Partial deletion of chromosome 20' http://www.orpha.net/ORDO/Orphanet_262155 Partial deletion of the long arm of chromosome 19 'Partial deletion of the long arm of chromosome 19' SubClassOf 'Partial deletion of chromosome 19' 'Partial deletion of the long arm of chromosome 19' SubClassOf 'Partial deletion of chromosome 19' http://www.orpha.net/ORDO/Orphanet_262146 Partial deletion of the long arm of chromosome 18 'Partial deletion of the long arm of chromosome 18' SubClassOf 'disease has major feature' some 'cataract' 'Partial deletion of the long arm of chromosome 18' SubClassOf 'syndromic disease' 'Partial deletion of the long arm of chromosome 18' SubClassOf 'Partial deletion of chromosome 18' 'Partial deletion of the long arm of chromosome 18' SubClassOf 'Rare genetic neurological disorder' 'Partial deletion of the long arm of chromosome 18' SubClassOf 'epilepsy' 'Partial deletion of the long arm of chromosome 18' SubClassOf 'Partial deletion of chromosome 18' http://www.orpha.net/ORDO/Orphanet_250165 Genetic polycythemia 'Genetic polycythemia' EquivalentTo 'polycythemia' and ('has modifier' some 'inherited') 'Genetic polycythemia' SubClassOf 'polycythemia' 'Genetic polycythemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001115 http://purl.obolibrary.org/obo/MONDO_0009601 metaphyseal dysplasia without hypotrichosis 'metaphyseal dysplasia without hypotrichosis' SubClassOf 'Cartilage-hair hypoplasia' 'metaphyseal dysplasia without hypotrichosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0009595 http://www.orpha.net/ORDO/Orphanet_262128 Partial deletion of the long arm of chromosome 16 'Partial deletion of the long arm of chromosome 16' SubClassOf 'Partial deletion of chromosome 16' 'Partial deletion of the long arm of chromosome 16' SubClassOf 'Partial deletion of chromosome 16' http://www.orpha.net/ORDO/Orphanet_262137 Partial deletion of the long arm of chromosome 17 'Partial deletion of the long arm of chromosome 17' SubClassOf 'Partial deletion of chromosome 17' 'Partial deletion of the long arm of chromosome 17' SubClassOf 'Partial deletion of chromosome 17' http://purl.obolibrary.org/obo/MONDO_0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 'methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency' SubClassOf 'Classic organic aciduria' 'methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019215 http://www.orpha.net/ORDO/Orphanet_262191 Partial duplication of chromosome 1 'Partial duplication of chromosome 1' SubClassOf 'syndrome caused by partial chromosomal duplication' 'Partial duplication of chromosome 1' SubClassOf 'Partial autosomal trisomy/tetrasomy' 'Partial duplication of chromosome 1' SubClassOf 'chromosome 1 disorder' 'Partial duplication of chromosome 1' SubClassOf 'Partial autosomal trisomy/tetrasomy' http://www.orpha.net/ORDO/Orphanet_262196 Partial duplication of chromosome 2 'Partial duplication of chromosome 2' SubClassOf 'syndrome caused by partial chromosomal duplication' 'Partial duplication of chromosome 2' SubClassOf 'chromosome 2 disorder' 'Partial duplication of chromosome 2' SubClassOf 'Partial autosomal trisomy/tetrasomy' 'Partial duplication of chromosome 2' SubClassOf 'Partial autosomal trisomy/tetrasomy' http://www.orpha.net/ORDO/Orphanet_95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency 'Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf '46,XX disorder of sex development induced by fetal androgens excess' 'Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf 'Rare syndromic dyslipidemia' 'Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf 'has modifier' some 'congenital' 'Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf 'Developmental anomaly of metabolic origin' 'Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf 'Congenital adrenal hyperplasia' 'Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019593 'Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf 'Congenital adrenal hyperplasia' http://purl.obolibrary.org/obo/MONDO_0010635 hypogonadotropic hypogonadism 1 with or without anosmia 'hypogonadotropic hypogonadism 1 with or without anosmia' SubClassOf 'Kallmann syndrome' 'hypogonadotropic hypogonadism 1 with or without anosmia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018800 http://www.ebi.ac.uk/efo/EFO_1001307 dumping syndrome 'dumping syndrome' SubClassOf 'syndromic disease' 'dumping syndrome' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_262173 Partial deletion of the long arm of chromosome 21 'Partial deletion of the long arm of chromosome 21' SubClassOf 'Partial autosomal monosomy' 'Partial deletion of the long arm of chromosome 21' SubClassOf 'syndrome caused by partial chromosomal deletion' 'Partial deletion of the long arm of chromosome 21' SubClassOf 'Partial autosomal monosomy' http://www.orpha.net/ORDO/Orphanet_227796 Fundus albipunctatus 'Fundus albipunctatus' SubClassOf 'RLBP1-related retinopathy' 'Fundus albipunctatus' SubClassOf 'Familial flecked retinopathy' 'Fundus albipunctatus' SubClassOf 'RDH5-related retinopathy' 'Fundus albipunctatus' SubClassOf 'Familial flecked retinopathy' http://purl.obolibrary.org/obo/MONDO_0009652 mucolipidosis type III gamma 'mucolipidosis type III gamma' SubClassOf 'Mucolipidosis' 'mucolipidosis type III gamma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019248 http://www.orpha.net/ORDO/Orphanet_225123 Hemochromatosis type 3 'Hemochromatosis type 3' SubClassOf 'has modifier' some 'rare' 'Hemochromatosis type 3' SubClassOf 'hereditary hemochromatosis' http://www.orpha.net/ORDO/Orphanet_227786 Familial flecked retinopathy 'Familial flecked retinopathy' SubClassOf 'Genetic macular dystrophy' 'Familial flecked retinopathy' SubClassOf 'Genetic macular dystrophy' http://purl.obolibrary.org/obo/MONDO_0009667 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3' SubClassOf 'muscular dystrophy-dystroglycanopathy, type A' 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3' SubClassOf 'Muscle-eye-brain disease' 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018939 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3' SubClassOf 'muscular dystrophy-dystroglycanopathy, type A' http://www.orpha.net/ORDO/Orphanet_225154 Familial infantile bilateral striatal necrosis 'Familial infantile bilateral striatal necrosis' SubClassOf 'syndromic disease' 'Familial infantile bilateral striatal necrosis' SubClassOf 'Infantile bilateral striatal necrosis' 'Familial infantile bilateral striatal necrosis' EquivalentTo 'Infantile bilateral striatal necrosis' and ('has modifier' some 'inherited') 'Familial infantile bilateral striatal necrosis' SubClassOf 'striatonigral degeneration' 'Familial infantile bilateral striatal necrosis' SubClassOf 'Miscellaneous movement disorder due to genetic neurodegenerative disease' 'Familial infantile bilateral striatal necrosis' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Familial infantile bilateral striatal necrosis' SubClassOf 'Infantile bilateral striatal necrosis' http://www.orpha.net/ORDO/Orphanet_225147 Sporadic infantile bilateral striatal necrosis 'Sporadic infantile bilateral striatal necrosis' SubClassOf 'Familial infantile bilateral striatal necrosis' 'Sporadic infantile bilateral striatal necrosis' SubClassOf 'Infantile bilateral striatal necrosis' 'Sporadic infantile bilateral striatal necrosis' SubClassOf 'Infantile bilateral striatal necrosis' http://www.orpha.net/ORDO/Orphanet_240760 Nijmegen breakage syndrome-like disorder 'Nijmegen breakage syndrome-like disorder' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Nijmegen breakage syndrome-like disorder' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Nijmegen breakage syndrome-like disorder' SubClassOf 'DNA repair defect other than combined T-cell and B-cell immunodeficiencies' 'Nijmegen breakage syndrome-like disorder' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019004 kidney Wilms tumor 'kidney Wilms tumor' SubClassOf 'embryonal neoplasm' 'kidney Wilms tumor' SubClassOf 'Genetic renal tumor' 'kidney Wilms tumor' SubClassOf 'Nephroblastoma' 'kidney Wilms tumor' SubClassOf 'Malignant Mixed Neoplasm' 'kidney Wilms tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0006058 http://purl.obolibrary.org/obo/MONDO_0022672 autosomal dominant cataract 'autosomal dominant cataract' SubClassOf 'Syndromic cataract' 'autosomal dominant cataract' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020225 http://www.orpha.net/ORDO/Orphanet_262119 Partial deletion of the long arm of chromosome 15 'Partial deletion of the long arm of chromosome 15' SubClassOf 'Partial autosomal monosomy' 'Partial deletion of the long arm of chromosome 15' SubClassOf 'syndrome caused by partial chromosomal deletion' 'Partial deletion of the long arm of chromosome 15' SubClassOf 'Partial autosomal monosomy' http://www.orpha.net/ORDO/Orphanet_178382 Congenital vertical talus 'Congenital vertical talus' SubClassOf 'Congenital deformities of limbs' 'Congenital vertical talus' SubClassOf 'Congenital deformities of limbs' http://www.orpha.net/ORDO/Orphanet_178389 Osteopetrosis - hypogammaglobulinemia 'Osteopetrosis - hypogammaglobulinemia' SubClassOf 'Immunodeficiency predominantly affecting antibody production' 'Osteopetrosis - hypogammaglobulinemia' SubClassOf 'Autosomal recessive malignant osteopetrosis' 'Osteopetrosis - hypogammaglobulinemia' SubClassOf 'Osteopetrosis' http://www.orpha.net/ORDO/Orphanet_178396 Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation 'Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation' SubClassOf 'hemorrhagic disease' 'Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation' SubClassOf 'coagulation protein disease' http://www.orpha.net/ORDO/Orphanet_262110 Partial deletion of the long arm of chromosome 14 'Partial deletion of the long arm of chromosome 14' SubClassOf 'Partial autosomal monosomy' 'Partial deletion of the long arm of chromosome 14' SubClassOf 'syndrome caused by partial chromosomal deletion' 'Partial deletion of the long arm of chromosome 14' SubClassOf 'Partial autosomal monosomy' http://purl.obolibrary.org/obo/MONDO_0007056 acroosteolysis 'acroosteolysis' SubClassOf 'Primary osteolysis' 'acroosteolysis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019707 http://www.orpha.net/ORDO/Orphanet_178364 Syndromic microphthalmia type 5 'Syndromic microphthalmia type 5' SubClassOf 'Syndromic microphthalmia' 'Syndromic microphthalmia type 5' SubClassOf 'Syndromic microphthalmia' http://www.orpha.net/ORDO/Orphanet_262101 Partial deletion of the long arm of chromosome 13 'Partial deletion of the long arm of chromosome 13' SubClassOf 'Partial autosomal monosomy' 'Partial deletion of the long arm of chromosome 13' SubClassOf 'syndrome caused by partial chromosomal deletion' 'Partial deletion of the long arm of chromosome 13' SubClassOf 'Partial autosomal monosomy' http://purl.obolibrary.org/obo/MONDO_0020039 46,XX disorder of sex development induced by androgens excess '46,XX disorder of sex development induced by androgens excess' SubClassOf 'Genetic 46,XX disorder of sex development' '46,XX disorder of sex development induced by androgens excess' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017576 http://purl.obolibrary.org/obo/MONDO_0019050 inherited hemoglobinopathy 'inherited hemoglobinopathy' SubClassOf 'Rare constitutional anemia' 'inherited hemoglobinopathy' EquivalentTo 'Hemoglobinopathy' and ('has modifier' some 'inherited') 'inherited hemoglobinopathy' SubClassOf 'Hemoglobinopathy' 'inherited hemoglobinopathy' SubClassOf 'erythrocyte disorder' 'inherited hemoglobinopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044348 'inherited hemoglobinopathy' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0044348 and ('has modifier' some 'inherited') 'inherited hemoglobinopathy' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_178377 Osteosclerosis-developmental delay-craniosynostosis syndrome 'Osteosclerosis-developmental delay-craniosynostosis syndrome' SubClassOf 'Syndromic craniosynostosis' 'Osteosclerosis-developmental delay-craniosynostosis syndrome' SubClassOf 'Syndromic craniosynostosis' http://www.orpha.net/ORDO/Orphanet_2871 Pfeiffer-Palm-Teller syndrome 'Pfeiffer-Palm-Teller syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Pfeiffer-Palm-Teller syndrome' SubClassOf 'congenital nervous system disorder' 'Pfeiffer-Palm-Teller syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Pfeiffer-Palm-Teller syndrome' SubClassOf 'syndromic intellectual disability' 'Pfeiffer-Palm-Teller syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_443098 hyperostosis cranialis interna 'hyperostosis cranialis interna' SubClassOf 'Primary bone dysplasia with increased bone density' 'hyperostosis cranialis interna' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2879 Phocomelia, Schinzel type 'Phocomelia, Schinzel type' SubClassOf 'Dysostosis of genetic origin' 'Phocomelia, Schinzel type' SubClassOf 'congenital limb malformation' http://www.orpha.net/ORDO/Orphanet_2878 Phocomelia - ectrodactyly - deafness - sinus arrhythmia 'Phocomelia - ectrodactyly - deafness - sinus arrhythmia' SubClassOf 'Syndromic genetic deafness' 'Phocomelia - ectrodactyly - deafness - sinus arrhythmia' SubClassOf 'Dysostosis of genetic origin' 'Phocomelia - ectrodactyly - deafness - sinus arrhythmia' SubClassOf 'congenital limb malformation' 'Phocomelia - ectrodactyly - deafness - sinus arrhythmia' SubClassOf 'congenital nervous system disorder' 'Phocomelia - ectrodactyly - deafness - sinus arrhythmia' SubClassOf 'Syndromic genetic deafness' http://www.ebi.ac.uk/efo/EFO_1001279 Brown-Sequard Syndrome 'Brown-Sequard Syndrome' SubClassOf 'syndromic disease' 'Brown-Sequard Syndrome' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_2876 PHAVER syndrome 'PHAVER syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'PHAVER syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2875 Phakomatosis pigmentovascularis 'Phakomatosis pigmentovascularis' SubClassOf 'Rare genetic neurological disorder' 'Phakomatosis pigmentovascularis' SubClassOf 'neurocutaneous syndrome' 'Phakomatosis pigmentovascularis' SubClassOf 'eye disease' 'Phakomatosis pigmentovascularis' SubClassOf 'has modifier' some 'rare' 'Phakomatosis pigmentovascularis' SubClassOf 'Genetic hyperpigmentation of the skin' 'Phakomatosis pigmentovascularis' SubClassOf 'Genetic hyperpigmentation of the skin' http://www.orpha.net/ORDO/Orphanet_2874 Phakomatosis pigmentokeratotica 'Phakomatosis pigmentokeratotica' SubClassOf 'Genetic skin tumor' 'Phakomatosis pigmentokeratotica' SubClassOf 'neurocutaneous syndrome' 'Phakomatosis pigmentokeratotica' SubClassOf 'melanocytic nevus' 'Phakomatosis pigmentokeratotica' SubClassOf 'nervous system benign neoplasm' 'Phakomatosis pigmentokeratotica' SubClassOf 'Rare genetic neurological disorder' 'Phakomatosis pigmentokeratotica' SubClassOf 'developmental defect during embryogenesis' 'Phakomatosis pigmentokeratotica' SubClassOf 'Genetic skin tumor' 'Phakomatosis pigmentokeratotica' SubClassOf 'genetic skin disease' 'Phakomatosis pigmentokeratotica' SubClassOf 'melanocytic nevus' http://www.orpha.net/ORDO/Orphanet_2872 Cardiocranial syndrome, Pfeiffer type 'Cardiocranial syndrome, Pfeiffer type' SubClassOf 'congenital nervous system disorder' 'Cardiocranial syndrome, Pfeiffer type' SubClassOf 'Syndromic craniosynostosis' 'Cardiocranial syndrome, Pfeiffer type' SubClassOf 'syndromic intellectual disability' 'Cardiocranial syndrome, Pfeiffer type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Cardiocranial syndrome, Pfeiffer type' SubClassOf 'Syndromic craniosynostosis' 'Cardiocranial syndrome, Pfeiffer type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_2869 Peutz-Jeghers syndrome 'Peutz-Jeghers syndrome' SubClassOf 'disease has feature' some 'Peutz-Jeghers Polyp' 'Peutz-Jeghers syndrome' SubClassOf 'developmental defect during embryogenesis' 'Peutz-Jeghers syndrome' SubClassOf 'disease has feature' some 'Palpebral lentiginosis' 'Peutz-Jeghers syndrome' SubClassOf 'disease has feature' some 'Pigmented conjunctival lesion' 'Peutz-Jeghers syndrome' SubClassOf 'Genetic digestive tract tumor' 'Peutz-Jeghers syndrome' SubClassOf 'Genetic intestinal polyposis' 'Peutz-Jeghers syndrome' SubClassOf 'intestinal neoplasm' 'Peutz-Jeghers syndrome' SubClassOf 'intestinal polyposis syndrome' 'Peutz-Jeghers syndrome' SubClassOf 'disease has feature' some 'Genetic hyperpigmentation of the skin' 'Peutz-Jeghers syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_178345 Aromatase excess syndrome 'Aromatase excess syndrome' SubClassOf 'disease has feature' some 'Peripheral precocious puberty' 'Aromatase excess syndrome' SubClassOf 'Inborn errors of metabolism' http://www.ebi.ac.uk/efo/EFO_1001284 capillary leak syndrome 'capillary leak syndrome' SubClassOf 'syndromic disease' 'capillary leak syndrome' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_2882 Sitosterolemia 'Sitosterolemia' SubClassOf 'Rare syndromic dyslipidemia' 'Sitosterolemia' SubClassOf 'Rare syndromic dyslipidemia' http://www.orpha.net/ORDO/Orphanet_2880 Phosphoenolpyruvate carboxykinase deficiency 'Phosphoenolpyruvate carboxykinase deficiency' SubClassOf 'Gluconeogenesis disorder' 'Phosphoenolpyruvate carboxykinase deficiency' SubClassOf 'Gluconeogenesis disorder' http://www.orpha.net/ORDO/Orphanet_2889 Pili torti 'Pili torti' SubClassOf 'Isolated hair shaft abnormality' 'Pili torti' SubClassOf 'Isolated hair shaft abnormality' http://www.orpha.net/ORDO/Orphanet_2888 Pierre Robin syndrome - faciodigital anomaly 'Pierre Robin syndrome - faciodigital anomaly' SubClassOf 'Orofacial clefting syndrome' 'Pierre Robin syndrome - faciodigital anomaly' SubClassOf 'Orofacial clefting syndrome' http://www.orpha.net/ORDO/Orphanet_2886 TARP syndrome 'TARP syndrome' SubClassOf 'Genetic syndromic Pierre Robin syndrome' 'TARP syndrome' SubClassOf 'Rare syndrome with cardiac malformations' 'TARP syndrome' SubClassOf 'heart disease' 'TARP syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2885 Piebald trait - neurologic defects 'Piebald trait - neurologic defects' SubClassOf 'Genetic hypopigmentation of the skin' 'Piebald trait - neurologic defects' SubClassOf 'Genetic hypopigmentation of the skin' http://www.ebi.ac.uk/efo/EFO_1001286 Caroli Disease 'Caroli Disease' SubClassOf 'Non-syndromic visceral malformation' 'Caroli Disease' SubClassOf 'Genetic biliary tract disease' 'Caroli Disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015213 'Caroli Disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015509 http://www.orpha.net/ORDO/Orphanet_2884 Piebaldism 'Piebaldism' SubClassOf 'neurocristopathy' 'Piebaldism' SubClassOf 'Genetic hypopigmentation of the skin' 'Piebaldism' SubClassOf 'autosomal dominant disease' 'Piebaldism' SubClassOf 'has modifier' some 'rare' 'Piebaldism' SubClassOf 'Genetic hypopigmentation of the skin' http://www.orpha.net/ORDO/Orphanet_178355 Smith-McCort dysplasia 'Smith-McCort dysplasia' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Smith-McCort dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2892 Pilodental dysplasia - refractive errors 'Pilodental dysplasia - refractive errors' SubClassOf 'Ectodermal dysplasia syndrome' 'Pilodental dysplasia - refractive errors' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_2891 Pili torti - developmental delay - neurological abnormalities 'Pili torti - developmental delay - neurological abnormalities' SubClassOf 'Syndromic hair shaft abnormality' 'Pili torti - developmental delay - neurological abnormalities' SubClassOf 'Syndromic hair shaft abnormality' http://www.orpha.net/ORDO/Orphanet_2890 Pili torti - onychodysplasia 'Pili torti - onychodysplasia' SubClassOf 'Ectodermal dysplasia syndrome' 'Pili torti - onychodysplasia' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_313936 PENS syndrome 'PENS syndrome' SubClassOf 'melanocytic nevus' 'PENS syndrome' SubClassOf 'Genetic skin tumor' 'PENS syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2899 Brachyolmia-amelogenesis imperfecta syndrome 'Brachyolmia-amelogenesis imperfecta syndrome' SubClassOf 'musculoskeletal system disease' http://www.orpha.net/ORDO/Orphanet_2898 X-linked intellectual disability - plagiocephaly 'X-linked intellectual disability - plagiocephaly' SubClassOf 'congenital nervous system disorder' 'X-linked intellectual disability - plagiocephaly' SubClassOf 'Syndromic craniosynostosis' 'X-linked intellectual disability - plagiocephaly' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability - plagiocephaly' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability - plagiocephaly' SubClassOf 'Syndromic craniosynostosis' 'X-linked intellectual disability - plagiocephaly' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_2897 Pityriasis rubra pilaris 'Pityriasis rubra pilaris' SubClassOf 'genetic skin disease' 'Pityriasis rubra pilaris' SubClassOf 'pityriasis rubra pilaris' http://www.orpha.net/ORDO/Orphanet_2896 Pitt-Hopkins syndrome 'Pitt-Hopkins syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Pitt-Hopkins syndrome' SubClassOf 'syndromic intellectual disability' 'Pitt-Hopkins syndrome' SubClassOf 'congenital nervous system disorder' 'Pitt-Hopkins syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Pitt-Hopkins syndrome' SubClassOf 'Monogenic disease with epilepsy' 'Pitt-Hopkins syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2894 Pilotto syndrome 'Pilotto syndrome' SubClassOf 'Orofacial clefting syndrome' 'Pilotto syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_46724 Cerebral arteriovenous malformation 'Cerebral arteriovenous malformation' SubClassOf 'nervous system benign neoplasm' 'Cerebral arteriovenous malformation' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'Cerebral arteriovenous malformation' SubClassOf 'arteriovenous hemangioma/malformation' 'Cerebral arteriovenous malformation' SubClassOf 'Genetic vascular anomaly' 'Cerebral arteriovenous malformation' SubClassOf 'Genetic neurovascular malformation' 'Cerebral arteriovenous malformation' SubClassOf 'Genetic neurovascular malformation' http://www.orpha.net/ORDO/Orphanet_313947 2q23.1 microduplication syndrome '2q23.1 microduplication syndrome' SubClassOf 'Partial duplication of the long arm of chromosome 2' '2q23.1 microduplication syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' '2q23.1 microduplication syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_178330 Heinz body anemia 'Heinz body anemia' SubClassOf 'Rare constitutional hemolytic anemia' 'Heinz body anemia' SubClassOf 'normocytic anemia' 'Heinz body anemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_178338 UV-sensitive syndrome 'UV-sensitive syndrome' SubClassOf 'Genetic photodermatosis' 'UV-sensitive syndrome' SubClassOf 'autosomal recessive disease' 'UV-sensitive syndrome' SubClassOf 'DNA repair deficiency' 'UV-sensitive syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_178333 Åland Islands eye disease 'Åland Islands eye disease' SubClassOf 'retinopathy' 'Åland Islands eye disease' SubClassOf 'X-linked disease' http://www.orpha.net/ORDO/Orphanet_2834 Wrinkly skin syndrome 'Wrinkly skin syndrome' SubClassOf 'Autosomal recessive cutis laxa type 2A' 'Wrinkly skin syndrome' SubClassOf 'Autosomal recessive cutis laxa type 2A' http://www.orpha.net/ORDO/Orphanet_2833 Stiff skin syndrome 'Stiff skin syndrome' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_2832 Short tarsus - absence of lower eyelashes 'Short tarsus - absence of lower eyelashes' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Short tarsus - absence of lower eyelashes' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_166311 Benign partial infantile seizures 'Benign partial infantile seizures' SubClassOf 'Infantile epilepsy syndrome' 'Benign partial infantile seizures' SubClassOf 'Infantile epilepsy syndrome' http://www.orpha.net/ORDO/Orphanet_2831 Rhizomelic dysplasia, Patterson-Lowry type 'Rhizomelic dysplasia, Patterson-Lowry type' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' 'Rhizomelic dysplasia, Patterson-Lowry type' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' http://www.orpha.net/ORDO/Orphanet_2828 Young adult-onset Parkinsonism 'Young adult-onset Parkinsonism' SubClassOf 'primary orthostatic hypotension' 'Young adult-onset Parkinsonism' SubClassOf 'Parkinson disease' 'Young adult-onset Parkinsonism' SubClassOf 'Parkinson disease' http://www.orpha.net/ORDO/Orphanet_166308 Benign infantile focal epilepsy with midline spikes and wave during sleep 'Benign infantile focal epilepsy with midline spikes and wave during sleep' SubClassOf 'Benign partial infantile seizures' 'Benign infantile focal epilepsy with midline spikes and wave during sleep' SubClassOf 'Benign partial infantile seizures' http://www.orpha.net/ORDO/Orphanet_2826 Spastic paraplegia - precocious puberty 'Spastic paraplegia - precocious puberty' SubClassOf 'Autosomal dominant complex spastic paraplegia' 'Spastic paraplegia - precocious puberty' SubClassOf 'disease has feature' some 'precocious puberty' 'Spastic paraplegia - precocious puberty' SubClassOf 'Autosomal dominant complex spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_2825 PARC syndrome 'PARC syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'PARC syndrome' SubClassOf 'Orofacial clefting syndrome' 'PARC syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_178307 Reticulate acropigmentation of Kitamura 'Reticulate acropigmentation of Kitamura' SubClassOf 'reticulate pigment disorder' 'Reticulate acropigmentation of Kitamura' SubClassOf 'Genetic hyperpigmentation of the skin' 'Reticulate acropigmentation of Kitamura' SubClassOf 'Genetic hyperpigmentation of the skin' http://www.orpha.net/ORDO/Orphanet_178303 8q22.1 microdeletion syndrome '8q22.1 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 8' '8q22.1 microdeletion syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' '8q22.1 microdeletion syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_166305 Benign infantile seizures associated to mild gastroenteritis 'Benign infantile seizures associated to mild gastroenteritis' SubClassOf 'Benign partial infantile seizures' 'Benign infantile seizures associated to mild gastroenteritis' SubClassOf 'Benign partial infantile seizures' http://www.orpha.net/ORDO/Orphanet_2843 Pentosuria 'Pentosuria' SubClassOf 'disorders of pentose/polyol metabolism' http://www.orpha.net/ORDO/Orphanet_2841 Familial benign chronic pemphigus 'Familial benign chronic pemphigus' SubClassOf 'epidermal disease' 'Familial benign chronic pemphigus' SubClassOf 'pemphigus' 'Familial benign chronic pemphigus' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_166302 Benign partial epilepsy with secondarily generalized seizures in infancy 'Benign partial epilepsy with secondarily generalized seizures in infancy' SubClassOf 'Benign non-familial infantile seizures' 'Benign partial epilepsy with secondarily generalized seizures in infancy' SubClassOf 'Benign non-familial infantile seizures' http://www.orpha.net/ORDO/Orphanet_2840 Pelvic dysplasia - arthrogryposis of lower limbs 'Pelvic dysplasia - arthrogryposis of lower limbs' SubClassOf 'Dysostosis of genetic origin' http://www.orpha.net/ORDO/Orphanet_2839 Pelvis-shoulder dysplasia 'Pelvis-shoulder dysplasia' SubClassOf 'congenital limb malformation' 'Pelvis-shoulder dysplasia' SubClassOf 'Dysostosis of genetic origin' http://www.orpha.net/ORDO/Orphanet_2837 Pellagra-like skin rash - neurological manifestations 'Pellagra-like skin rash - neurological manifestations' SubClassOf 'Genetic photodermatosis' 'Pellagra-like skin rash - neurological manifestations' SubClassOf 'Disorder of tryptophan metabolism' 'Pellagra-like skin rash - neurological manifestations' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2836 PEHO syndrome 'PEHO syndrome' SubClassOf 'Epilepsy syndrome' 'PEHO syndrome' SubClassOf 'Syndromic lymphedema' 'PEHO syndrome' SubClassOf 'eye degenerative disorder' 'PEHO syndrome' SubClassOf 'Genetic neurodegenerative disease' 'PEHO syndrome' SubClassOf 'Autosomal recessive syndromic optic atrophy' 'PEHO syndrome' SubClassOf 'Milroy disease' 'PEHO syndrome' SubClassOf 'neurovascular disorder' 'PEHO syndrome' SubClassOf 'syndromic hereditary optic neuropathy' 'PEHO syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2856 Persistent Müllerian duct syndrome 'Persistent Müllerian duct syndrome' SubClassOf 'Genetic 46,XY disorder of sex development of endocrine origin' 'Persistent Müllerian duct syndrome' SubClassOf 'male infertility' 'Persistent Müllerian duct syndrome' SubClassOf 'pseudohermaphroditism' 'Persistent Müllerian duct syndrome' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_2855 Perrault syndrome 'Perrault syndrome' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Perrault syndrome' SubClassOf 'Non-acquired premature ovarian failure' 'Perrault syndrome' SubClassOf 'Female infertility due to gonadal dysgenesis' 'Perrault syndrome' SubClassOf 'female infertility' 'Perrault syndrome' SubClassOf 'Syndrome with 46,XX disorder of sex development' 'Perrault syndrome' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' 'Perrault syndrome' SubClassOf 'autosomal recessive disease' 'Perrault syndrome' SubClassOf 'Syndromic genetic deafness' 'Perrault syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2854 Fuhrmann syndrome 'Fuhrmann syndrome' SubClassOf 'Orofacial clefting syndrome' 'Fuhrmann syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Fuhrmann syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' 'Fuhrmann syndrome' SubClassOf 'congenital limb malformation' 'Fuhrmann syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2850 Alopecia-intellectual disability syndrome 'Alopecia-intellectual disability syndrome' SubClassOf 'genetic alopecia' 'Alopecia-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_2849 Perlman syndrome 'Perlman syndrome' SubClassOf 'Inherited renal cancer-predisposing syndrome' 'Perlman syndrome' SubClassOf 'Overgrowth syndrome' 'Perlman syndrome' SubClassOf 'syndromic disease' 'Perlman syndrome' SubClassOf 'Genetic renal tumor' 'Perlman syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2847 Pericardial and diaphragmatic defect 'Pericardial and diaphragmatic defect' SubClassOf 'syndromic diaphragmatic or abdominal wall malformation' http://www.orpha.net/ORDO/Orphanet_2868 Short stature - valvular heart disease - characteristic facies 'Short stature - valvular heart disease - characteristic facies' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Short stature - valvular heart disease - characteristic facies' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_2867 Short stature, Brussels type 'Short stature, Brussels type' SubClassOf 'genetic disorder' 'Short stature, Brussels type' SubClassOf 'musculoskeletal system disease' http://www.orpha.net/ORDO/Orphanet_2866 Short stature - deafness - neutrophil dysfunction - dysmorphism 'Short stature - deafness - neutrophil dysfunction - dysmorphism' SubClassOf 'Syndromic genetic deafness' 'Short stature - deafness - neutrophil dysfunction - dysmorphism' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_2865 Short stature - webbed neck - heart disease 'Short stature - webbed neck - heart disease' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Short stature - webbed neck - heart disease' SubClassOf 'syndromic intellectual disability' 'Short stature - webbed neck - heart disease' SubClassOf 'congenital nervous system disorder' 'Short stature - webbed neck - heart disease' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_2863 Short stature - wormian bones - dextrocardia 'Short stature - wormian bones - dextrocardia' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://www.orpha.net/ORDO/Orphanet_168984 CLAPO syndrome 'CLAPO syndrome' SubClassOf 'Overgrowth syndrome' 'CLAPO syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_34592 Immunodeficiency by defective expression of HLA class 1 'Immunodeficiency by defective expression of HLA class 1' SubClassOf 'non-SCID combined immunodeficiency' 'Immunodeficiency by defective expression of HLA class 1' SubClassOf 'Combined T and B cell immunodeficiency' http://www.orpha.net/ORDO/Orphanet_71528 Obesity due to prohormone convertase I deficiency 'Obesity due to prohormone convertase I deficiency' SubClassOf 'Isolated congenital hypogonadotropic hypogonadism' http://www.orpha.net/ORDO/Orphanet_34587 Glycogen storage disease due to LAMP-2 deficiency 'Glycogen storage disease due to LAMP-2 deficiency' SubClassOf 'Glycogen storage disease' 'Glycogen storage disease due to LAMP-2 deficiency' SubClassOf 'Muscular glycogenosis' 'Glycogen storage disease due to LAMP-2 deficiency' SubClassOf 'Syndromic neurometabolic disease with X-linked intellectual disability' 'Glycogen storage disease due to LAMP-2 deficiency' SubClassOf 'Lysosomal glycogen storage disease' 'Glycogen storage disease due to LAMP-2 deficiency' SubClassOf 'Glycogen storage disease with hypertrophic cardiomyopathy' 'Glycogen storage disease due to LAMP-2 deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001442 cardiac tuberculosis 'cardiac tuberculosis' SubClassOf 'Tuberculosis' http://www.orpha.net/ORDO/Orphanet_398934 Malignant epithelial tumor of ovary 'malignant non-epithelial tumor of ovary' DisjointWith 'Malignant epithelial tumor of ovary' 'Malignant epithelial tumor of ovary' SubClassOf 'ovarian cancer' 'Malignant epithelial tumor of ovary' SubClassOf 'ovarian epithelial tumor' 'Malignant epithelial tumor of ovary' SubClassOf 'Genital neoplasm, female' http://www.orpha.net/ORDO/Orphanet_71517 Rapid-onset dystonia-parkinsonism 'Rapid-onset dystonia-parkinsonism' SubClassOf 'parkinsonian disorder' 'Rapid-onset dystonia-parkinsonism' SubClassOf 'ATP1A3-associated neurological disorder' 'Rapid-onset dystonia-parkinsonism' SubClassOf 'Persistent combined dystonia' 'Rapid-onset dystonia-parkinsonism' SubClassOf 'Persistent combined dystonia' http://www.orpha.net/ORDO/Orphanet_71518 Benign paroxysmal torticollis of infancy 'Benign paroxysmal torticollis of infancy' SubClassOf 'Paroxysmal dystonia' 'Benign paroxysmal torticollis of infancy' SubClassOf 'Paroxysmal dystonia' http://www.ebi.ac.uk/efo/EFO_1001456 central nervous system infection 'central nervous system infection' SubClassOf 'central nervous system disease' 'central nervous system infection' SubClassOf 'central nervous system disease' http://www.ebi.ac.uk/efo/EFO_1001452 Yellow Nail Syndrome 'Yellow Nail Syndrome' SubClassOf 'Syndromic lymphedema' 'Yellow Nail Syndrome' SubClassOf 'Milroy disease' 'Yellow Nail Syndrome' SubClassOf 'Syndromic nail anomaly' 'Yellow Nail Syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019285 'Yellow Nail Syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019520 'Yellow Nail Syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019313 http://www.ebi.ac.uk/efo/EFO_1001451 X-Linked Combined Immunodeficiency Diseases 'X-Linked Combined Immunodeficiency Diseases' SubClassOf 'T-B+ severe combined immunodeficiency' 'X-Linked Combined Immunodeficiency Diseases' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044200 'X-Linked Combined Immunodeficiency Diseases' SubClassOf 'Rare genetic immune disease' http://www.ebi.ac.uk/efo/EFO_1001467 Hypereosinophilic syndrome 'Hypereosinophilic syndrome' SubClassOf 'syndromic disease' 'Hypereosinophilic syndrome' SubClassOf 'Familial restrictive cardiomyopathy' 'Hypereosinophilic syndrome' SubClassOf 'syndromic disease' 'Hypereosinophilic syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016340 http://www.orpha.net/ORDO/Orphanet_2701 Noonan syndrome-like disorder with loose anagen hair 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf 'Syndromic developmental defect of the eye' 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf 'genetic alopecia' 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf 'Noonan syndrome and Noonan-related syndrome' 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf 'Loose anagen syndrome' 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_262092 Partial deletion of the long arm of chromosome 11 'Partial deletion of the long arm of chromosome 11' SubClassOf 'Partial deletion of chromosome 11' 'Partial deletion of the long arm of chromosome 11' SubClassOf 'Partial deletion of chromosome 11' http://www.ebi.ac.uk/efo/EFO_1001486 primary biliary cirrhosis 'primary biliary cirrhosis' SubClassOf 'Genetic biliary tract disease' 'primary biliary cirrhosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015509 http://www.ebi.ac.uk/efo/EFO_1001485 acromegaly 'acromegaly' SubClassOf 'Rare genetic neurological disorder' 'acromegaly' SubClassOf 'Genetic infertility' 'acromegaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 'acromegaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017143 http://www.ebi.ac.uk/efo/EFO_1001496 Autosomal dominant polycystic kidney disease 'Autosomal dominant polycystic kidney disease' SubClassOf 'Genetic infertility' 'Autosomal dominant polycystic kidney disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017143 'Autosomal dominant polycystic kidney disease' SubClassOf 'Familial cystic renal disease' http://www.orpha.net/ORDO/Orphanet_262047 Partial deletion of the long arm of chromosome 6 'Partial deletion of the long arm of chromosome 6' SubClassOf 'Partial deletion of chromosome 6' 'Partial deletion of the long arm of chromosome 6' SubClassOf 'Partial deletion of chromosome 6' http://www.orpha.net/ORDO/Orphanet_262029 Partial deletion of the long arm of chromosome 4 'Partial deletion of the long arm of chromosome 4' SubClassOf 'Partial deletion of chromosome 4' 'Partial deletion of the long arm of chromosome 4' SubClassOf 'Partial deletion of chromosome 4' http://www.orpha.net/ORDO/Orphanet_262038 Partial deletion of the long arm of chromosome 5 'Partial deletion of the long arm of chromosome 5' SubClassOf 'Partial deletion of chromosome 5' 'Partial deletion of the long arm of chromosome 5' SubClassOf 'Partial deletion of chromosome 5' http://www.orpha.net/ORDO/Orphanet_262019 Partial deletion of the long arm of chromosome 3 'Partial deletion of the long arm of chromosome 3' SubClassOf 'Partial deletion of chromosome 3' 'Partial deletion of the long arm of chromosome 3' SubClassOf 'Partial deletion of chromosome 3' http://www.orpha.net/ORDO/Orphanet_262010 Partial deletion of the long arm of chromosome 2 'Partial deletion of the long arm of chromosome 2' SubClassOf 'Partial deletion of chromosome 2' 'Partial deletion of the long arm of chromosome 2' SubClassOf 'Partial deletion of chromosome 2' http://www.orpha.net/ORDO/Orphanet_264675 Congenital pulmonary alveolar proteinosis 'Congenital pulmonary alveolar proteinosis' SubClassOf 'quantitative and/or qualitative congenital phagocyte defect' 'Congenital pulmonary alveolar proteinosis' EquivalentTo 'pulmonary alveolar proteinosis' and ('has modifier' some 'inherited') 'Congenital pulmonary alveolar proteinosis' SubClassOf 'pulmonary alveolar proteinosis' http://www.orpha.net/ORDO/Orphanet_262083 Partial monosomy of the long arm of chromosome 10 'Partial monosomy of the long arm of chromosome 10' SubClassOf 'Partial deletion of chromosome 10' 'Partial monosomy of the long arm of chromosome 10' SubClassOf 'Partial deletion of chromosome 10' http://www.orpha.net/ORDO/Orphanet_262074 Partial monosomy of the long arm of chromosome 9 'Partial monosomy of the long arm of chromosome 9' SubClassOf 'Partial deletion of chromosome 9' 'Partial monosomy of the long arm of chromosome 9' SubClassOf 'Partial deletion of chromosome 9' http://www.orpha.net/ORDO/Orphanet_262065 Partial deletion of the long arm of chromosome 8 'Partial deletion of the long arm of chromosome 8' SubClassOf 'Partial deletion of chromosome 8' 'Partial deletion of the long arm of chromosome 8' SubClassOf 'Partial deletion of chromosome 8' http://www.ebi.ac.uk/efo/EFO_1001417 Rhinitis, Allergic, Perennial 'Rhinitis, Allergic, Perennial' SubClassOf 'allergic rhinitis' 'Rhinitis, Allergic, Perennial' SubClassOf 'allergic rhinitis' http://www.ebi.ac.uk/efo/EFO_1001424 skin epithelioid hemangioma 'skin epithelioid hemangioma' SubClassOf 'skin hemangioma' 'skin epithelioid hemangioma' SubClassOf 'epithelioid hemangioma' 'skin epithelioid hemangioma' SubClassOf 'skin hemangioma' 'skin epithelioid hemangioma' SubClassOf 'epithelioid hemangioma' http://www.ebi.ac.uk/efo/EFO_1001422 Sertoli Cell-Only Syndrome 'Sertoli Cell-Only Syndrome' SubClassOf 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' 'Sertoli Cell-Only Syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018393 http://www.orpha.net/ORDO/Orphanet_262056 Partial deletion of the long arm of chromosome 7 'Partial deletion of the long arm of chromosome 7' SubClassOf 'Partial deletion of chromosome 7' 'Partial deletion of the long arm of chromosome 7' SubClassOf 'Partial deletion of chromosome 7' http://www.orpha.net/ORDO/Orphanet_276603 Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency 'Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency' SubClassOf 'Diazoxide-resistant focal hyperinsulinism' 'Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency' SubClassOf 'hyperinsulinemic hypoglycemia, familial, 2' 'Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency' SubClassOf 'Diazoxide-resistant focal hyperinsulinism' http://purl.obolibrary.org/obo/MONDO_0009544 macrocephaly/megalencephaly syndrome, autosomal recessive 'macrocephaly/megalencephaly syndrome, autosomal recessive' SubClassOf 'megalencephaly' 'macrocephaly/megalencephaly syndrome, autosomal recessive' SubClassOf 'megalencephaly' http://purl.obolibrary.org/obo/MONDO_0010542 dilated cardiomyopathy 3B 'dilated cardiomyopathy 3B' SubClassOf 'Familial isolated dilated cardiomyopathy' 'dilated cardiomyopathy 3B' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015470 'dilated cardiomyopathy 3B' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016147 http://purl.obolibrary.org/obo/MONDO_0010555 X-linked chondrodysplasia punctata 1 'X-linked chondrodysplasia punctata 1' SubClassOf 'X-linked dominant chondrodysplasia punctata' 'X-linked chondrodysplasia punctata 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0010556 http://www.orpha.net/ORDO/Orphanet_2792 Otofaciocervical syndrome 'Otofaciocervical syndrome' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Otofaciocervical syndrome' SubClassOf 'has modifier' some 'rare' 'Otofaciocervical syndrome' SubClassOf 'Genetic branchial arch or oral-acral syndrome' http://www.orpha.net/ORDO/Orphanet_2791 Otodental syndrome 'Otodental syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 11' 'Otodental syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 11' http://www.orpha.net/ORDO/Orphanet_2790 Autosomal dominant osteosclerosis, Worth type 'Autosomal dominant osteosclerosis, Worth type' SubClassOf 'bone disease' http://www.orpha.net/ORDO/Orphanet_166272 Goldblatt syndrome 'Goldblatt syndrome' SubClassOf 'Malformative syndrome with dentinogenesis imperfecta' 'Goldblatt syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Goldblatt syndrome' SubClassOf 'Spondylometaphyseal dysplasia' 'Goldblatt syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0009578 neurocutaneous melanocytosis 'neurocutaneous melanocytosis' SubClassOf 'Genetic skin tumor' 'neurocutaneous melanocytosis' SubClassOf 'Rare genetic neurological disorder' 'neurocutaneous melanocytosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 'neurocutaneous melanocytosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015950 http://www.orpha.net/ORDO/Orphanet_2798 Pachygyria - intellectual disability - epilepsy 'Pachygyria - intellectual disability - epilepsy' SubClassOf 'syndromic intellectual disability' 'Pachygyria - intellectual disability - epilepsy' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_166277 Suarez-Stickler syndrome 'Suarez-Stickler syndrome' SubClassOf 'musculoskeletal system disease' 'Suarez-Stickler syndrome' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_2796 Pachydermoperiostosis 'Pachydermoperiostosis' SubClassOf 'Genetic dermis disorder' 'Pachydermoperiostosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019276 http://purl.obolibrary.org/obo/MONDO_0010560 cleft palate with or without ankyloglossia, X-linked 'cleft palate with or without ankyloglossia, X-linked' SubClassOf 'Orofacial clefting syndrome' 'cleft palate with or without ankyloglossia, X-linked' SubClassOf 'genetic otorhinolaryngologic disease' 'cleft palate with or without ankyloglossia, X-linked' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015335 http://purl.obolibrary.org/obo/MONDO_0009580 intellectual disability, autosomal recessive 1 'intellectual disability, autosomal recessive 1' SubClassOf 'Autosomal recessive non-syndromic intellectual disability' 'intellectual disability, autosomal recessive 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019502 http://www.orpha.net/ORDO/Orphanet_262001 Partial deletion of the long arm of chromosome 1 'Partial deletion of the long arm of chromosome 1' SubClassOf 'Partial deletion of chromosome 1' 'Partial deletion of the long arm of chromosome 1' SubClassOf 'Partial deletion of chromosome 1' http://www.orpha.net/ORDO/Orphanet_276630 Symptomatic form of Coffin-Lowry syndrome in female carriers 'Symptomatic form of Coffin-Lowry syndrome in female carriers' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://www.orpha.net/ORDO/Orphanet_166265 Dentinogenesis imperfecta type 3 'Dentinogenesis imperfecta type 3' SubClassOf 'genetic disorder' 'Dentinogenesis imperfecta type 3' SubClassOf 'Dentinogenesis imperfecta' 'Dentinogenesis imperfecta type 3' SubClassOf 'Dentinogenesis imperfecta' http://www.orpha.net/ORDO/Orphanet_166260 Dentinogenesis imperfecta type 2 'Dentinogenesis imperfecta type 2' SubClassOf 'genetic disorder' 'Dentinogenesis imperfecta type 2' SubClassOf 'Dentinogenesis imperfecta' 'Dentinogenesis imperfecta type 2' SubClassOf 'Dentinogenesis imperfecta' http://www.orpha.net/ORDO/Orphanet_166295 Benign non-familial infantile seizures 'Benign non-familial infantile seizures' SubClassOf 'Benign partial infantile seizures' 'Benign non-familial infantile seizures' SubClassOf 'Benign partial infantile seizures' http://purl.obolibrary.org/obo/MONDO_0010589 Aarskog-Scott syndrome, X-linked 'Aarskog-Scott syndrome, X-linked' SubClassOf 'Milroy disease' 'Aarskog-Scott syndrome, X-linked' SubClassOf 'Syndromic lymphedema' 'Aarskog-Scott syndrome, X-linked' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019520 'Aarskog-Scott syndrome, X-linked' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019313 http://www.orpha.net/ORDO/Orphanet_166299 Benign partial epilepsy of infancy with complex partial seizures 'Benign partial epilepsy of infancy with complex partial seizures' SubClassOf 'Benign non-familial infantile seizures' 'Benign partial epilepsy of infancy with complex partial seizures' SubClassOf 'Benign non-familial infantile seizures' http://purl.obolibrary.org/obo/MONDO_0010584 dyskeratosis congenita, X-linked 'dyskeratosis congenita, X-linked' SubClassOf 'X-linked disease' http://www.orpha.net/ORDO/Orphanet_166286 Porokeratotic eccrine ostial and dermal duct nevus 'Porokeratotic eccrine ostial and dermal duct nevus' SubClassOf 'benign eccrine neoplasm' 'Porokeratotic eccrine ostial and dermal duct nevus' SubClassOf 'has modifier' some 'rare' 'Porokeratotic eccrine ostial and dermal duct nevus' SubClassOf 'eccrine sweat gland hamartoma' 'Porokeratotic eccrine ostial and dermal duct nevus' SubClassOf 'melanocytic nevus' 'Porokeratotic eccrine ostial and dermal duct nevus' SubClassOf 'hamartoma' 'Porokeratotic eccrine ostial and dermal duct nevus' SubClassOf 'melanocytic nevus' http://www.orpha.net/ORDO/Orphanet_166282 Familial sick sinus syndrome 'Familial sick sinus syndrome' SubClassOf 'sick sinus syndrome' 'Familial sick sinus syndrome' SubClassOf 'Genetic cardiac rhythm disease' 'Familial sick sinus syndrome' EquivalentTo 'sick sinus syndrome' and ('has modifier' some 'inherited') 'Familial sick sinus syndrome' SubClassOf 'Genetic cardiac rhythm disease' http://www.orpha.net/ORDO/Orphanet_276608 Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia 'Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia' SubClassOf 'Familial hyperinsulinism' 'Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia' SubClassOf 'Familial hyperinsulinism' http://www.orpha.net/ORDO/Orphanet_2750 Orofaciodigital syndrome type 1 'Orofaciodigital syndrome type 1' SubClassOf 'nephropathy-associated ciliopathy' 'Orofaciodigital syndrome type 1' SubClassOf 'Genetic sebaceous gland anomaly' 'Orofaciodigital syndrome type 1' SubClassOf 'Syndromic renal or urinary tract malformation' 'Orofaciodigital syndrome type 1' SubClassOf 'neurodevelopmental disorder' 'Orofaciodigital syndrome type 1' SubClassOf 'Orofaciodigital syndrome' 'Orofaciodigital syndrome type 1' SubClassOf 'Syndromic genetic deafness' 'Orofaciodigital syndrome type 1' SubClassOf 'Ectodermal dysplasia syndrome' 'Orofaciodigital syndrome type 1' SubClassOf 'polycystic kidney disease' 'Orofaciodigital syndrome type 1' SubClassOf 'X-linked deafness' 'Orofaciodigital syndrome type 1' SubClassOf 'Syndromic urogenital tract malformation' 'Orofaciodigital syndrome type 1' SubClassOf 'X-linked syndromic intellectual disability' 'Orofaciodigital syndrome type 1' SubClassOf 'Genetic sebaceous gland anomaly' 'Orofaciodigital syndrome type 1' SubClassOf 'Syndromic renal or urinary tract malformation' 'Orofaciodigital syndrome type 1' SubClassOf 'Orofaciodigital syndrome' 'Orofaciodigital syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 'Orofaciodigital syndrome type 1' SubClassOf 'Syndromic genetic deafness' 'Orofaciodigital syndrome type 1' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_2756 Orofaciodigital syndrome type 10 'Orofaciodigital syndrome type 10' SubClassOf 'syndromic intellectual disability' 'Orofaciodigital syndrome type 10' SubClassOf 'Orofaciodigital syndrome' 'Orofaciodigital syndrome type 10' SubClassOf 'Orofaciodigital syndrome' http://www.orpha.net/ORDO/Orphanet_2755 Orofaciodigital syndrome type 8 'Orofaciodigital syndrome type 8' SubClassOf 'Orofaciodigital syndrome' 'Orofaciodigital syndrome type 8' SubClassOf 'Syndromic genetic deafness' 'Orofaciodigital syndrome type 8' SubClassOf 'Orofaciodigital syndrome' 'Orofaciodigital syndrome type 8' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_2754 Joubert syndrome with orofaciodigital defect 'Joubert syndrome with orofaciodigital defect' SubClassOf 'Orofaciodigital syndrome' 'Joubert syndrome with orofaciodigital defect' SubClassOf 'Joubert syndrome 17' 'Joubert syndrome with orofaciodigital defect' SubClassOf 'Syndromic genetic deafness' 'Joubert syndrome with orofaciodigital defect' SubClassOf 'syndromic intellectual disability' 'Joubert syndrome with orofaciodigital defect' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Joubert syndrome with orofaciodigital defect' SubClassOf 'Non-syndromic genetic deafness' 'Joubert syndrome with orofaciodigital defect' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015369 'Joubert syndrome with orofaciodigital defect' SubClassOf 'Orofaciodigital syndrome' 'Joubert syndrome with orofaciodigital defect' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_2753 Orofaciodigital syndrome type 4 'Orofaciodigital syndrome type 4' SubClassOf 'Short rib dysplasia' 'Orofaciodigital syndrome type 4' SubClassOf 'Syndromic genetic deafness' 'Orofaciodigital syndrome type 4' SubClassOf 'syndromic intellectual disability' 'Orofaciodigital syndrome type 4' SubClassOf 'Orofaciodigital syndrome' 'Orofaciodigital syndrome type 4' SubClassOf 'thoracic malformation' 'Orofaciodigital syndrome type 4' SubClassOf 'Short rib dysplasia' 'Orofaciodigital syndrome type 4' SubClassOf 'Syndromic genetic deafness' 'Orofaciodigital syndrome type 4' SubClassOf 'Orofaciodigital syndrome' http://www.orpha.net/ORDO/Orphanet_2752 Orofaciodigital syndrome type 3 'Orofaciodigital syndrome type 3' SubClassOf 'syndromic intellectual disability' 'Orofaciodigital syndrome type 3' SubClassOf 'Orofaciodigital syndrome' 'Orofaciodigital syndrome type 3' SubClassOf 'Syndromic genetic deafness' 'Orofaciodigital syndrome type 3' SubClassOf 'Syndromic genetic deafness' 'Orofaciodigital syndrome type 3' SubClassOf 'Orofaciodigital syndrome' http://www.orpha.net/ORDO/Orphanet_2751 Orofaciodigital syndrome type 2 'Orofaciodigital syndrome type 2' SubClassOf 'Syndromic genetic deafness' 'Orofaciodigital syndrome type 2' SubClassOf 'Orofaciodigital syndrome' 'Orofaciodigital syndrome type 2' SubClassOf 'syndromic intellectual disability' 'Orofaciodigital syndrome type 2' SubClassOf 'Syndromic genetic deafness' 'Orofaciodigital syndrome type 2' SubClassOf 'Orofaciodigital syndrome' http://www.orpha.net/ORDO/Orphanet_2749 Oromandibular-limb hypogenesis syndrome 'Oromandibular-limb hypogenesis syndrome' SubClassOf 'Oromandibular-limb anomalies syndrome' 'Oromandibular-limb hypogenesis syndrome' SubClassOf 'Dysostosis of genetic origin' 'Oromandibular-limb hypogenesis syndrome' SubClassOf 'Oromandibular-limb anomalies syndrome' http://www.orpha.net/ORDO/Orphanet_2760 OSLAM syndrome 'OSLAM syndrome' SubClassOf 'congenital limb malformation' 'OSLAM syndrome' SubClassOf 'Dysostosis of genetic origin' 'OSLAM syndrome' SubClassOf 'bone neoplasm' 'OSLAM syndrome' SubClassOf 'Genetic bone tumor' 'OSLAM syndrome' SubClassOf 'hereditary disorder of connective tissue' 'OSLAM syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_46627 Char syndrome 'Char syndrome' SubClassOf 'neurovascular disorder' 'Char syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Char syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' 'Char syndrome' SubClassOf 'Eyelids malposition disorder' 'Char syndrome' SubClassOf 'familial patent arterial duct' 'Char syndrome' SubClassOf 'Ptosis' 'Char syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2769 Familial osteodysplasia, Anderson type 'Familial osteodysplasia, Anderson type' SubClassOf 'Dysostosis of genetic origin' http://www.orpha.net/ORDO/Orphanet_2768 Blount disease 'Blount disease' SubClassOf 'Bent bone dysplasia' 'Blount disease' SubClassOf 'osteochondrodysplasia' 'Blount disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2767 Carpotarsal osteochondromatosis 'Carpotarsal osteochondromatosis' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_2763 Osteocraniostenosis 'Osteocraniostenosis' SubClassOf 'Slender bone dysplasia' 'Osteocraniostenosis' SubClassOf 'Slender bone dysplasia' http://www.orpha.net/ORDO/Orphanet_2762 Progressive osseous heteroplasia 'Progressive osseous heteroplasia' SubClassOf 'dermis disorder' 'Progressive osseous heteroplasia' SubClassOf 'genetic skin disease' 'Progressive osseous heteroplasia' SubClassOf 'Genetic dermis disorder' 'Progressive osseous heteroplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019276 http://www.orpha.net/ORDO/Orphanet_2759 Imperforate oropharynx - costo vetebral anomalies 'Imperforate oropharynx - costo vetebral anomalies' SubClassOf 'Dysostosis of genetic origin' http://www.orpha.net/ORDO/Orphanet_2772 Congenital osteogenesis imperfecta - microcephaly - cataracts 'Congenital osteogenesis imperfecta - microcephaly - cataracts' SubClassOf 'has modifier' some 'congenital' 'Congenital osteogenesis imperfecta - microcephaly - cataracts' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_2771 Bruck syndrome 'Bruck syndrome' SubClassOf 'syndromic disease' 'Bruck syndrome' SubClassOf 'Rare disease with dentinogenesis imperfecta' 'Bruck syndrome' SubClassOf 'Primary bone dysplasia with decreased bone density' 'Bruck syndrome' SubClassOf 'Primary bone dysplasia' 'Bruck syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2770 Nasu-Hakola disease 'Nasu-Hakola disease' SubClassOf 'autosomal recessive disease' 'Nasu-Hakola disease' SubClassOf 'Leukodystrophy' 'Nasu-Hakola disease' SubClassOf 'Primary osteolysis' 'Nasu-Hakola disease' SubClassOf 'Leukodystrophy' 'Nasu-Hakola disease' SubClassOf 'Primary osteolysis' http://www.orpha.net/ORDO/Orphanet_2779 Osteopathia striata - pigmentary dermopathy - white forelock 'Osteopathia striata - pigmentary dermopathy - white forelock' SubClassOf 'Genetic hyperpigmentation of the skin' 'Osteopathia striata - pigmentary dermopathy - white forelock' SubClassOf 'Genetic hyperpigmentation of the skin' http://www.orpha.net/ORDO/Orphanet_2777 Osteomesopyknosis 'Osteomesopyknosis' SubClassOf 'Osteopetrosis' 'Osteomesopyknosis' SubClassOf 'Osteopetrosis' http://www.orpha.net/ORDO/Orphanet_2776 Autosomal recessive distal osteolysis syndrome 'Autosomal recessive distal osteolysis syndrome' SubClassOf 'Primary osteolysis' 'Autosomal recessive distal osteolysis syndrome' SubClassOf 'Primary osteolysis' http://www.orpha.net/ORDO/Orphanet_2774 Multicentric carpo-tarsal osteolysis with or without nephropathy 'Multicentric carpo-tarsal osteolysis with or without nephropathy' SubClassOf 'Syndromic renal or urinary tract malformation' 'Multicentric carpo-tarsal osteolysis with or without nephropathy' SubClassOf 'Primary osteolysis' 'Multicentric carpo-tarsal osteolysis with or without nephropathy' SubClassOf 'Syndromic renal or urinary tract malformation' 'Multicentric carpo-tarsal osteolysis with or without nephropathy' SubClassOf 'Primary osteolysis' http://www.orpha.net/ORDO/Orphanet_2773 Osteogenesis imperfecta - retinopathy - seizures - intellectual disability 'Osteogenesis imperfecta - retinopathy - seizures - intellectual disability' SubClassOf 'retinopathy' 'Osteogenesis imperfecta - retinopathy - seizures - intellectual disability' SubClassOf 'hereditary optic atrophy' 'Osteogenesis imperfecta - retinopathy - seizures - intellectual disability' SubClassOf 'developmental disability' 'Osteogenesis imperfecta - retinopathy - seizures - intellectual disability' SubClassOf 'eye degenerative disorder' 'Osteogenesis imperfecta - retinopathy - seizures - intellectual disability' SubClassOf 'Osteogenesis imperfecta' 'Osteogenesis imperfecta - retinopathy - seizures - intellectual disability' SubClassOf 'Primary bone dysplasia with decreased bone density' http://www.orpha.net/ORDO/Orphanet_2783 Autosomal dominant osteopetrosis type 1 'Autosomal dominant osteopetrosis type 1' SubClassOf 'autosomal dominant osteopetrosis' 'Autosomal dominant osteopetrosis type 1' SubClassOf 'Osteopetrosis' http://www.orpha.net/ORDO/Orphanet_2781 Osteopetrosis 'Osteopetrosis' SubClassOf 'familial osteosclerosis' http://www.orpha.net/ORDO/Orphanet_2780 Osteopathia striata - cranial sclerosis 'Osteopathia striata - cranial sclerosis' SubClassOf 'Osteopetrosis' 'Osteopathia striata - cranial sclerosis' SubClassOf 'Osteopetrosis' http://www.orpha.net/ORDO/Orphanet_2789 Lateral meningocele syndrome 'Lateral meningocele syndrome' SubClassOf 'Neural tube defect' http://www.orpha.net/ORDO/Orphanet_2788 Osteoporosis - pseudoglioma 'Osteoporosis - pseudoglioma' SubClassOf 'Congenital vitreoretinal dysplasia' 'Osteoporosis - pseudoglioma' SubClassOf 'syndromic intellectual disability' 'Osteoporosis - pseudoglioma' SubClassOf 'autosomal recessive disease' 'Osteoporosis - pseudoglioma' SubClassOf 'Congenital vitreoretinal dysplasia' http://www.orpha.net/ORDO/Orphanet_2787 Osteoporosis - macrocephaly - blindness - joint hyperlaxity 'Osteoporosis - macrocephaly - blindness - joint hyperlaxity' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_2786 Osteoporosis - oculocutaneous hypopigmentation syndrome 'Osteoporosis - oculocutaneous hypopigmentation syndrome' SubClassOf 'genetic disorder' 'Osteoporosis - oculocutaneous hypopigmentation syndrome' SubClassOf 'musculoskeletal system disease' http://www.orpha.net/ORDO/Orphanet_2785 Osteopetrosis with renal tubular acidosis 'Osteopetrosis with renal tubular acidosis' SubClassOf 'Autosomal recessive malignant osteopetrosis' 'Osteopetrosis with renal tubular acidosis' SubClassOf 'Primary renal tubular acidosis' 'Osteopetrosis with renal tubular acidosis' SubClassOf 'Primary renal tubular acidosis' 'Osteopetrosis with renal tubular acidosis' SubClassOf 'Osteopetrosis' http://www.orpha.net/ORDO/Orphanet_2714 Oculo-palato-cerebral syndrome 'Oculo-palato-cerebral syndrome' SubClassOf 'congenital nervous system disorder' 'Oculo-palato-cerebral syndrome' SubClassOf 'Orofacial clefting syndrome' 'Oculo-palato-cerebral syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Oculo-palato-cerebral syndrome' SubClassOf 'syndromic intellectual disability' 'Oculo-palato-cerebral syndrome' SubClassOf 'Orofacial clefting syndrome' 'Oculo-palato-cerebral syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_2713 Oculoosteocutaneous syndrome 'Oculoosteocutaneous syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Oculoosteocutaneous syndrome' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_2712 Oculofaciocardiodental syndrome 'Oculofaciocardiodental syndrome' SubClassOf 'Rare disease with glaucoma as a major feature' 'Oculofaciocardiodental syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Oculofaciocardiodental syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Oculofaciocardiodental syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Oculofaciocardiodental syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Oculofaciocardiodental syndrome' SubClassOf 'Syndromic microphthalmia' 'Oculofaciocardiodental syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2710 Oculodentodigital dysplasia 'Oculodentodigital dysplasia' SubClassOf 'Ectodermal dysplasia syndrome' 'Oculodentodigital dysplasia' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Oculodentodigital dysplasia' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_2709 Oculodental syndrome, Rutherfurd type 'Oculodental syndrome, Rutherfurd type' SubClassOf 'disorder of development or morphogenesis' 'Oculodental syndrome, Rutherfurd type' SubClassOf 'Syndromic corneal dystrophy' 'Oculodental syndrome, Rutherfurd type' SubClassOf 'Syndromic corneal dystrophy' http://www.orpha.net/ORDO/Orphanet_2707 Oculocerebrofacial syndrome, Kaufman type 'Oculocerebrofacial syndrome, Kaufman type' SubClassOf 'Genetic developmental defect of the eye' 'Oculocerebrofacial syndrome, Kaufman type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Oculocerebrofacial syndrome, Kaufman type' SubClassOf 'syndromic intellectual disability' 'Oculocerebrofacial syndrome, Kaufman type' SubClassOf 'congenital nervous system disorder' 'Oculocerebrofacial syndrome, Kaufman type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_2704 Ochoa syndrome 'Ochoa syndrome' SubClassOf 'autosomal recessive disease' 'Ochoa syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Ochoa syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2724 Odontomatosis - aortae esophagus stenosis 'Odontomatosis - aortae esophagus stenosis' SubClassOf 'disorder of development or morphogenesis' 'Odontomatosis - aortae esophagus stenosis' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_2723 Odontotrichomelic syndrome 'Odontotrichomelic syndrome' SubClassOf 'GAPO syndrome' 'Odontotrichomelic syndrome' SubClassOf 'Orofacial clefting syndrome' 'Odontotrichomelic syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Odontotrichomelic syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Odontotrichomelic syndrome' SubClassOf 'Orofacial clefting syndrome' http://www.orpha.net/ORDO/Orphanet_2722 Odonto-onycho dysplasia - alopecia 'Odonto-onycho dysplasia - alopecia' SubClassOf 'Ectodermal dysplasia syndrome' 'Odonto-onycho dysplasia - alopecia' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_2721 Odonto-onycho-dermal dysplasia 'Odonto-onycho-dermal dysplasia' SubClassOf 'ectodermal dysplasia WNT10A related' 'Odonto-onycho-dermal dysplasia' SubClassOf 'Diffuse palmoplantar keratoderma' 'Odonto-onycho-dermal dysplasia' SubClassOf 'autosomal recessive disease' 'Odonto-onycho-dermal dysplasia' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_2719 Oculocerebral hypopigmentation syndrome, Cross type 'Oculocerebral hypopigmentation syndrome, Cross type' SubClassOf 'Syndromic oculocutaneous albinism' 'Oculocerebral hypopigmentation syndrome, Cross type' SubClassOf 'disorder of development or morphogenesis' 'Oculocerebral hypopigmentation syndrome, Cross type' SubClassOf 'Syndromic oculocutaneous albinism' http://www.orpha.net/ORDO/Orphanet_2718 Oculotrichodysplasia 'Oculotrichodysplasia' SubClassOf 'Ectodermal dysplasia syndrome' 'Oculotrichodysplasia' SubClassOf 'Syndromic retinitis pigmentosa' 'Oculotrichodysplasia' SubClassOf 'Ectodermal dysplasia syndrome' 'Oculotrichodysplasia' SubClassOf 'Syndromic retinitis pigmentosa' http://www.orpha.net/ORDO/Orphanet_2717 Oculotrichoanal syndrome 'Oculotrichoanal syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://www.orpha.net/ORDO/Orphanet_2716 Oculo-skeletal-renal syndrome 'Oculo-skeletal-renal syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Oculo-skeletal-renal syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' http://www.orpha.net/ORDO/Orphanet_2736 Lethal omphalocele-cleft palate syndrome 'Lethal omphalocele-cleft palate syndrome' SubClassOf 'syndromic intellectual disability' 'Lethal omphalocele-cleft palate syndrome' SubClassOf 'congenital nervous system disorder' 'Lethal omphalocele-cleft palate syndrome' SubClassOf 'Orofacial clefting syndrome' 'Lethal omphalocele-cleft palate syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Lethal omphalocele-cleft palate syndrome' SubClassOf 'syndromic diaphragmatic or abdominal wall malformation' 'Lethal omphalocele-cleft palate syndrome' SubClassOf 'Orofacial clefting syndrome' 'Lethal omphalocele-cleft palate syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_2733 Omodysplasia 'Omodysplasia' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' 'Omodysplasia' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' http://www.orpha.net/ORDO/Orphanet_2732 Olivopontocerebellar atrophy - deafness 'Olivopontocerebellar atrophy - deafness' SubClassOf 'Syndromic genetic deafness' 'Olivopontocerebellar atrophy - deafness' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_2731 Taurodontia - absent teeth - sparse hair 'Taurodontia - absent teeth - sparse hair' SubClassOf 'Ectodermal dysplasia syndrome' 'Taurodontia - absent teeth - sparse hair' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_2730 Postaxial tetramelic oligodactyly 'Postaxial tetramelic oligodactyly' SubClassOf 'Dysostosis of genetic origin' 'Postaxial tetramelic oligodactyly' SubClassOf 'congenital limb malformation' http://www.orpha.net/ORDO/Orphanet_2729 Okamoto syndrome 'Okamoto syndrome' SubClassOf 'syndromic intellectual disability' 'Okamoto syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Okamoto syndrome' SubClassOf 'congenital nervous system disorder' 'Okamoto syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Okamoto syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2728 Blepharophimosis-intellectual disability syndrome, Ohdo type 'Blepharophimosis-intellectual disability syndrome, Ohdo type' SubClassOf 'Ohdo syndrome and variants' 'Blepharophimosis-intellectual disability syndrome, Ohdo type' SubClassOf 'Blepharophimosis-intellectual disability syndrome' http://www.orpha.net/ORDO/Orphanet_2746 Opsismodysplasia 'Opsismodysplasia' SubClassOf 'Spondylodysplastic dysplasia' 'Opsismodysplasia' SubClassOf 'Spondylodysplastic dysplasia' http://www.orpha.net/ORDO/Orphanet_2745 Opitz G/BBB syndrome 'Opitz G/BBB syndrome' SubClassOf 'Syndromic anorectal malformation' 'Opitz G/BBB syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'Opitz G/BBB syndrome' SubClassOf 'syndromic respiratory or mediastinal malformation' 'Opitz G/BBB syndrome' SubClassOf 'Telecanthus' 'Opitz G/BBB syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Opitz G/BBB syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2744 Horizontal gaze palsy with progressive scoliosis 'Horizontal gaze palsy with progressive scoliosis' SubClassOf 'disorder of development or morphogenesis' http://www.orpha.net/ORDO/Orphanet_2743 Ophthalmoplegia - intellectual disability - lingua scrotalis 'Ophthalmoplegia - intellectual disability - lingua scrotalis' SubClassOf 'congenital nervous system disorder' 'Ophthalmoplegia - intellectual disability - lingua scrotalis' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Ophthalmoplegia - intellectual disability - lingua scrotalis' SubClassOf 'syndromic intellectual disability' 'Ophthalmoplegia - intellectual disability - lingua scrotalis' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_2741 Ophthalmomandibulomelic dysplasia 'Ophthalmomandibulomelic dysplasia' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_178506 Brain calcification, Rajab type 'Brain calcification, Rajab type' SubClassOf 'Rare genetic neurological disorder' 'Brain calcification, Rajab type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_178509 Perry syndrome 'Perry syndrome' SubClassOf 'parkinsonian disorder' 'Perry syndrome' SubClassOf 'syndromic disease' 'Perry syndrome' SubClassOf 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' 'Perry syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_48652 Monosomy 22q13 'Monosomy 22q13' SubClassOf 'chromosome 22q deletion' http://www.orpha.net/ORDO/Orphanet_117573 Syndromic anorectal malformation 'Syndromic anorectal malformation' EquivalentTo 'Anorectal malformation' and ('has modifier' some 'has a syndromic presentation') 'Syndromic anorectal malformation' SubClassOf 'Anorectal malformation' 'Syndromic anorectal malformation' SubClassOf 'syndromic disease' 'Syndromic anorectal malformation' SubClassOf 'Anorectal malformation' http://www.ebi.ac.uk/efo/EFO_1001100 peritoneal neoplasm 'peritoneal neoplasm' SubClassOf 'neoplasm' 'peritoneal neoplasm' SubClassOf 'neoplasm' http://www.ebi.ac.uk/efo/EFO_1001116 polyradiculoneuropathy 'polyradiculoneuropathy' SubClassOf 'polyneuropathy' 'polyradiculoneuropathy' SubClassOf 'polyneuropathy' http://www.ebi.ac.uk/efo/EFO_1001111 placental site trophoblastic tumor 'placental site trophoblastic tumor' SubClassOf 'Gestational trophoblastic neoplasm' 'placental site trophoblastic tumor' SubClassOf 'Gestational trophoblastic neoplasm' 'placental site trophoblastic tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018944 http://www.ebi.ac.uk/efo/EFO_1001110 pituitary-dependent Cushing's disease 'pituitary-dependent Cushing's disease' SubClassOf 'Cushing syndrome' 'pituitary-dependent Cushing's disease' SubClassOf 'Cushing syndrome' http://www.ebi.ac.uk/efo/EFO_1001129 proliferative vitreoretinopathy 'proliferative vitreoretinopathy' SubClassOf 'Vitreoretinal degeneration' 'proliferative vitreoretinopathy' SubClassOf 'Vitreoretinopathy' 'proliferative vitreoretinopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020248 http://www.ebi.ac.uk/efo/EFO_1001132 pseudotumor cerebri 'pseudotumor cerebri' SubClassOf 'intracranial hypertension' 'pseudotumor cerebri' SubClassOf 'intracranial hypertension' http://www.ebi.ac.uk/efo/EFO_1001147 reflex sympathetic dystrophy 'reflex sympathetic dystrophy' SubClassOf 'syndromic disease' 'reflex sympathetic dystrophy' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_1001142 pyruvate carboxylase deficiency disease 'pyruvate carboxylase deficiency disease' SubClassOf 'Gluconeogenesis disorder' 'pyruvate carboxylase deficiency disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019225 'pyruvate carboxylase deficiency disease' SubClassOf 'Disorder of carbohydrate metabolism' http://www.orpha.net/ORDO/Orphanet_2199 Epidermolytic palmoplantar keratoderma 'Epidermolytic palmoplantar keratoderma' SubClassOf 'Autosomal dominant isolated diffuse palmoplantar keratoderma' 'Epidermolytic palmoplantar keratoderma' SubClassOf 'Autosomal dominant isolated diffuse palmoplantar keratoderma' http://www.orpha.net/ORDO/Orphanet_2198 Palmoplantar keratoderma-esophageal carcinoma syndrome 'Palmoplantar keratoderma-esophageal carcinoma syndrome' SubClassOf 'Genetic gastro-esophageal disease' 'Palmoplantar keratoderma-esophageal carcinoma syndrome' SubClassOf 'Focal palmoplantar keratoderma' 'Palmoplantar keratoderma-esophageal carcinoma syndrome' SubClassOf 'Genetic gastro-esophageal disease' http://www.orpha.net/ORDO/Orphanet_2197 Idiopathic hypercalciuria 'Idiopathic hypercalciuria' SubClassOf 'idiopathic disease' 'Idiopathic hypercalciuria' SubClassOf 'Genetic renal tubular disease' 'Idiopathic hypercalciuria' SubClassOf 'Inborn errors of metabolism' 'Idiopathic hypercalciuria' SubClassOf 'Genetic renal tubular disease' 'Idiopathic hypercalciuria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019052 http://www.orpha.net/ORDO/Orphanet_2196 Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement' SubClassOf 'Colobomatous and areolar dystrophy' 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement' SubClassOf 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis' 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2195 Dicarboxylic aminoaciduria 'Dicarboxylic aminoaciduria' SubClassOf 'Disorder of amino acid absorption and transport' 'Dicarboxylic aminoaciduria' SubClassOf 'inherited amino acid metabolic disorder' 'Dicarboxylic aminoaciduria' SubClassOf 'Disorder of amino acid absorption and transport' http://www.orpha.net/ORDO/Orphanet_2190 Congenital hydronephrosis 'Congenital hydronephrosis' SubClassOf 'Genetic non-syndromic renal or urinary tract malformation' 'Congenital hydronephrosis' SubClassOf 'has modifier' some 'congenital' 'Congenital hydronephrosis' SubClassOf 'hydronephrosis' 'Congenital hydronephrosis' SubClassOf 'Genetic non-syndromic renal or urinary tract malformation' 'Congenital hydronephrosis' SubClassOf 'hydronephrosis' http://www.orpha.net/ORDO/Orphanet_97678 Maternal uniparental disomy of chromosome 13 'Maternal uniparental disomy of chromosome 13' SubClassOf 'chromosome 13 disorder' 'Maternal uniparental disomy of chromosome 13' SubClassOf 'uniparental disomy' 'Maternal uniparental disomy of chromosome 13' SubClassOf 'Uniparental disomy of maternal origin' 'Maternal uniparental disomy of chromosome 13' SubClassOf 'Uniparental disomy of maternal origin' http://www.orpha.net/ORDO/Orphanet_97685 17q11 microdeletion syndrome '17q11 microdeletion syndrome' SubClassOf 'Neurofibromatosis type 1' '17q11 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 17' '17q11 microdeletion syndrome' SubClassOf 'Neurofibromatosis type 1' '17q11 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 17' http://www.orpha.net/ORDO/Orphanet_46059 Lathosterolosis 'Lathosterolosis' SubClassOf 'cholesterol biosynthetic process disease' 'Lathosterolosis' SubClassOf 'Sterol biosynthesis disorder' http://www.orpha.net/ORDO/Orphanet_2156 Hirsutism-skeletal dysplasia-intellectual disability syndrome 'Hirsutism-skeletal dysplasia-intellectual disability syndrome' SubClassOf 'congenital nervous system disorder' 'Hirsutism-skeletal dysplasia-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'Hirsutism-skeletal dysplasia-intellectual disability syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Hirsutism-skeletal dysplasia-intellectual disability syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_2155 Hirschsprung disease - deafness - polydactyly 'Hirschsprung disease - deafness - polydactyly' SubClassOf 'congenital nervous system disorder' 'Hirschsprung disease - deafness - polydactyly' SubClassOf 'Syndromic genetic deafness' 'Hirschsprung disease - deafness - polydactyly' SubClassOf 'intestinal motility disease' 'Hirschsprung disease - deafness - polydactyly' SubClassOf 'Syndromic anorectal malformation' 'Hirschsprung disease - deafness - polydactyly' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Hirschsprung disease - deafness - polydactyly' SubClassOf 'Syndromic genetic deafness' 'Hirschsprung disease - deafness - polydactyly' SubClassOf 'Syndromic anorectal malformation' 'Hirschsprung disease - deafness - polydactyly' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_2153 Hirschsprung disease - nail hypoplasia - dysmorphism 'Hirschsprung disease - nail hypoplasia - dysmorphism' SubClassOf 'intestinal motility disease' 'Hirschsprung disease - nail hypoplasia - dysmorphism' SubClassOf 'Syndromic anorectal malformation' 'Hirschsprung disease - nail hypoplasia - dysmorphism' SubClassOf 'Syndromic nail anomaly' 'Hirschsprung disease - nail hypoplasia - dysmorphism' SubClassOf 'Syndromic anorectal malformation' http://www.orpha.net/ORDO/Orphanet_2152 Mowat-Wilson syndrome 'Mowat-Wilson syndrome' SubClassOf 'congenital nervous system disorder' 'Mowat-Wilson syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Mowat-Wilson syndrome' SubClassOf 'syndromic intellectual disability' 'Mowat-Wilson syndrome' SubClassOf 'Syndromic intestinal malformation' 'Mowat-Wilson syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Mowat-Wilson syndrome' SubClassOf 'Monogenic disease with epilepsy' 'Mowat-Wilson syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2151 Hirschsprung disease - ganglioneuroblastoma 'Hirschsprung disease - ganglioneuroblastoma' SubClassOf 'Syndromic anorectal malformation' 'Hirschsprung disease - ganglioneuroblastoma' SubClassOf 'intestinal motility disease' 'Hirschsprung disease - ganglioneuroblastoma' SubClassOf 'Syndromic anorectal malformation' http://www.orpha.net/ORDO/Orphanet_2150 Hirschsprung disease - type D brachydactyly 'Hirschsprung disease - type D brachydactyly' SubClassOf 'Syndromic anorectal malformation' 'Hirschsprung disease - type D brachydactyly' SubClassOf 'intestinal motility disease' 'Hirschsprung disease - type D brachydactyly' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Hirschsprung disease - type D brachydactyly' SubClassOf 'Syndromic anorectal malformation' 'Hirschsprung disease - type D brachydactyly' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_2167 Holzgreve-Wagner-Rehder syndrome 'Holzgreve-Wagner-Rehder syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Holzgreve-Wagner-Rehder syndrome' SubClassOf 'Orofacial clefting syndrome' 'Holzgreve-Wagner-Rehder syndrome' SubClassOf 'syndromic disease' 'Holzgreve-Wagner-Rehder syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2166 Holoprosencephaly - postaxial polydactyly 'Holoprosencephaly - postaxial polydactyly' SubClassOf 'syndromic intellectual disability' 'Holoprosencephaly - postaxial polydactyly' SubClassOf 'congenital nervous system disorder' 'Holoprosencephaly - postaxial polydactyly' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Holoprosencephaly - postaxial polydactyly' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_2163 Holoprosencephaly - craniosynostosis 'Holoprosencephaly - craniosynostosis' SubClassOf 'Syndromic craniosynostosis' 'Holoprosencephaly - craniosynostosis' SubClassOf 'Syndromic craniosynostosis' http://www.orpha.net/ORDO/Orphanet_2162 Holoprosencephaly 'Holoprosencephaly' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Holoprosencephaly' SubClassOf 'congenital nervous system disorder' 'Holoprosencephaly' SubClassOf 'Midline cerebral malformation' 'Holoprosencephaly' SubClassOf 'syndromic intellectual disability' 'Holoprosencephaly' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Holoprosencephaly' SubClassOf 'Midline cerebral malformation' http://www.orpha.net/ORDO/Orphanet_357225 Primary non-essential cutis verticis gyrata 'Primary non-essential cutis verticis gyrata' SubClassOf 'primary cutis verticis gyrata' 'Primary non-essential cutis verticis gyrata' SubClassOf 'Genetic dermis disorder' 'Primary non-essential cutis verticis gyrata' SubClassOf 'has modifier' some 'rare' 'Primary non-essential cutis verticis gyrata' SubClassOf 'syndromic intellectual disability' 'Primary non-essential cutis verticis gyrata' SubClassOf 'genetic skin disease' 'Primary non-essential cutis verticis gyrata' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019276 http://www.orpha.net/ORDO/Orphanet_2169 Methylcobalamin deficiency type cblE 'Methylcobalamin deficiency type cblE' SubClassOf 'Homocystinuria without methylmalonic aciduria' 'Methylcobalamin deficiency type cblE' SubClassOf 'Homocystinuria without methylmalonic aciduria' http://www.orpha.net/ORDO/Orphanet_2168 Homocarnosinosis 'Homocarnosinosis' SubClassOf 'Disorder of peptide metabolism' 'Homocarnosinosis' SubClassOf 'gamma-amino butyric acid metabolism disorder' 'Homocarnosinosis' SubClassOf 'Disorder of peptide metabolism' http://www.orpha.net/ORDO/Orphanet_2177 Hydranencephaly 'Hydranencephaly' SubClassOf 'anencephaly' 'Hydranencephaly' SubClassOf 'Encephaloclastic disorder' 'Hydranencephaly' SubClassOf 'Encephaloclastic disorder' http://www.orpha.net/ORDO/Orphanet_2176 Infantile systemic hyalinosis 'Infantile systemic hyalinosis' SubClassOf 'hyaline fibromatosis syndrome' 'Infantile systemic hyalinosis' SubClassOf 'Primary osteolysis' http://www.orpha.net/ORDO/Orphanet_2172 Microcephaly - glomerulonephritis - marfanoid habitus 'Microcephaly - glomerulonephritis - marfanoid habitus' SubClassOf 'syndromic intellectual disability' 'Microcephaly - glomerulonephritis - marfanoid habitus' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Microcephaly - glomerulonephritis - marfanoid habitus' SubClassOf 'congenital nervous system disorder' 'Microcephaly - glomerulonephritis - marfanoid habitus' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_357237 Severe combined immunodeficiency due to CARD11 deficiency 'Severe combined immunodeficiency due to CARD11 deficiency' SubClassOf 'T+ B+ severe combined immunodeficiency' 'Severe combined immunodeficiency due to CARD11 deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044201 http://www.orpha.net/ORDO/Orphanet_2170 Methylcobalamin deficiency type cblG 'Methylcobalamin deficiency type cblG' SubClassOf 'Homocystinuria without methylmalonic aciduria' 'Methylcobalamin deficiency type cblG' SubClassOf 'Genetic thrombotic microangiopathy' 'Methylcobalamin deficiency type cblG' SubClassOf 'Homocystinuria without methylmalonic aciduria' 'Methylcobalamin deficiency type cblG' SubClassOf 'Genetic thrombotic microangiopathy' http://www.orpha.net/ORDO/Orphanet_2189 Hydrolethalus 'Hydrolethalus' SubClassOf 'autosomal recessive disease' 'Hydrolethalus' SubClassOf 'Orofacial clefting syndrome' 'Hydrolethalus' SubClassOf 'Rare genetic neurological disorder' 'Hydrolethalus' SubClassOf 'Orofacial clefting syndrome' http://www.orpha.net/ORDO/Orphanet_2186 Hydrocephalus - blue sclerae - nephropathy 'Hydrocephalus - blue sclerae - nephropathy' SubClassOf 'Congenital hydrocephalus' 'Hydrocephalus - blue sclerae - nephropathy' SubClassOf 'Syndromic renal or urinary tract malformation' 'Hydrocephalus - blue sclerae - nephropathy' SubClassOf 'non-syndromic urogenital tract malformation' 'Hydrocephalus - blue sclerae - nephropathy' SubClassOf 'Syndromic renal or urinary tract malformation' http://www.orpha.net/ORDO/Orphanet_2185 Congenital hydrocephalus 'Congenital hydrocephalus' SubClassOf 'disorder of development or morphogenesis' 'Congenital hydrocephalus' SubClassOf 'brain disease' 'Congenital hydrocephalus' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2183 Hydrocephalus - obesity - hypogonadism 'Hydrocephalus - obesity - hypogonadism' SubClassOf 'Syndromic obesity' 'Hydrocephalus - obesity - hypogonadism' SubClassOf 'Syndromic obesity' http://www.orpha.net/ORDO/Orphanet_2182 Hydrocephalus with stenosis of the aqueduct of Sylvius 'Hydrocephalus with stenosis of the aqueduct of Sylvius' SubClassOf 'L1 syndrome' 'Hydrocephalus with stenosis of the aqueduct of Sylvius' SubClassOf 'Congenital hydrocephalus' 'Hydrocephalus with stenosis of the aqueduct of Sylvius' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017140 http://www.orpha.net/ORDO/Orphanet_2181 Hydrocephaly - tall stature - joint laxity 'Hydrocephaly - tall stature - joint laxity' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Hydrocephaly - tall stature - joint laxity' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_2180 Hydrocephalus - costovertebral dysplasia - Sprengel anomaly 'Hydrocephalus - costovertebral dysplasia - Sprengel anomaly' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://www.orpha.net/ORDO/Orphanet_2233 Hypogonadism - mitral valve prolapse - intellectual disability 'Hypogonadism - mitral valve prolapse - intellectual disability' SubClassOf 'male infertility' 'Hypogonadism - mitral valve prolapse - intellectual disability' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_2232 Primary hypergonadotropic hypogonadism - partial alopecia 'Primary hypergonadotropic hypogonadism - partial alopecia' SubClassOf 'male infertility' 'Primary hypergonadotropic hypogonadism - partial alopecia' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_2230 Hypogonadotropic hypogonadism - frontoparietal alopecia 'Hypogonadotropic hypogonadism - frontoparietal alopecia' SubClassOf 'Congenital hypogonadotropic hypogonadism' http://purl.obolibrary.org/obo/MONDO_0009413 immunodeficiency, common variable, 2 'immunodeficiency, common variable, 2' SubClassOf 'Common variable immunodeficiency' 'immunodeficiency, common variable, 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015517 http://www.orpha.net/ORDO/Orphanet_2239 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland 'Familial isolated hypoparathyroidism due to agenesis of parathyroid gland' SubClassOf 'hypoparathyroidism, familial isolated 1' 'Familial isolated hypoparathyroidism due to agenesis of parathyroid gland' SubClassOf 'Familial isolated hypoparathyroidism' http://www.orpha.net/ORDO/Orphanet_2238 Familial isolated hypoparathyroidism 'Familial isolated hypoparathyroidism' SubClassOf 'Genetic hypoparathyroidism' 'Familial isolated hypoparathyroidism' SubClassOf 'Genetic hypoparathyroidism' http://www.orpha.net/ORDO/Orphanet_2237 Hypoparathyroidism - deafness - renal disease 'Hypoparathyroidism - deafness - renal disease' SubClassOf 'Syndromic genetic deafness' 'Hypoparathyroidism - deafness - renal disease' SubClassOf 'Syndromic renal or urinary tract malformation' 'Hypoparathyroidism - deafness - renal disease' SubClassOf 'Syndromic urogenital tract malformation' 'Hypoparathyroidism - deafness - renal disease' SubClassOf 'Partial deletion of the short arm of chromosome 10' 'Hypoparathyroidism - deafness - renal disease' SubClassOf 'Syndromic genetic deafness' 'Hypoparathyroidism - deafness - renal disease' SubClassOf 'Syndromic renal or urinary tract malformation' 'Hypoparathyroidism - deafness - renal disease' SubClassOf 'Partial deletion of the short arm of chromosome 10' http://www.orpha.net/ORDO/Orphanet_2235 Hypogonadotropic hypogonadism - retinitis pigmentosa 'Hypogonadotropic hypogonadism - retinitis pigmentosa' SubClassOf 'Congenital hypogonadotropic hypogonadism' 'Hypogonadotropic hypogonadism - retinitis pigmentosa' SubClassOf 'Syndromic retinitis pigmentosa' 'Hypogonadotropic hypogonadism - retinitis pigmentosa' SubClassOf 'Syndromic retinitis pigmentosa' http://www.orpha.net/ORDO/Orphanet_2234 Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies 'Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies' SubClassOf 'congenital nervous system disorder' 'Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies' SubClassOf 'syndromic intellectual disability' 'Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome 'Megacystis-microcolon-intestinal hypoperistalsis syndrome' SubClassOf 'Congenital intestinal motility disorder' 'Megacystis-microcolon-intestinal hypoperistalsis syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Megacystis-microcolon-intestinal hypoperistalsis syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2249 Ulna hypoplasia - intellectual disability 'Ulna hypoplasia - intellectual disability' SubClassOf 'congenital limb malformation' 'Ulna hypoplasia - intellectual disability' SubClassOf 'Dysostosis of genetic origin' http://www.orpha.net/ORDO/Orphanet_2255 Pancreatic hypoplasia - diabetes - congenital heart disease 'Pancreatic hypoplasia - diabetes - congenital heart disease' SubClassOf 'diabetes mellitus' 'Pancreatic hypoplasia - diabetes - congenital heart disease' SubClassOf 'has modifier' some 'congenital' 'Pancreatic hypoplasia - diabetes - congenital heart disease' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_2254 Pontocerebellar hypoplasia type 1 'Pontocerebellar hypoplasia type 1' SubClassOf 'Autosomal recessive non-syndromic intellectual disability' 'Pontocerebellar hypoplasia type 1' SubClassOf 'Bulbospinal muscular atrophy' 'Pontocerebellar hypoplasia type 1' SubClassOf 'Non-syndromic pontocerebellar hypoplasia' 'Pontocerebellar hypoplasia type 1' SubClassOf 'Non-syndromic pontocerebellar hypoplasia' http://www.orpha.net/ORDO/Orphanet_2253 Foveal hypoplasia - presenile cataract 'Foveal hypoplasia - presenile cataract' SubClassOf 'Retinal dystrophy' http://www.orpha.net/ORDO/Orphanet_2252 Radial hypoplasia - triphalangeal thumbs - hypospadias - maxillary diastema 'Radial hypoplasia - triphalangeal thumbs - hypospadias - maxillary diastema' SubClassOf 'Syndromic urogenital tract malformation' 'Radial hypoplasia - triphalangeal thumbs - hypospadias - maxillary diastema' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Radial hypoplasia - triphalangeal thumbs - hypospadias - maxillary diastema' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Radial hypoplasia - triphalangeal thumbs - hypospadias - maxillary diastema' SubClassOf 'Syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0022410 retinal ciliopathy 'retinal ciliopathy' SubClassOf 'Rare genetic neurological disorder' 'retinal ciliopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.orpha.net/ORDO/Orphanet_2251 Thumb deformity - alopecia - pigmentation anomaly 'Thumb deformity - alopecia - pigmentation anomaly' SubClassOf 'congenital limb malformation' 'Thumb deformity - alopecia - pigmentation anomaly' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_2250 Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism 'Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism' SubClassOf 'Congenital hypogonadotropic hypogonadism' 'Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism' SubClassOf 'arhinia, choanal atresia, and microphthalmia' http://purl.obolibrary.org/obo/MONDO_0009436 congenital hypothalamic hamartoma syndrome 'congenital hypothalamic hamartoma syndrome' SubClassOf 'Pallister-Hall syndrome' 'congenital hypothalamic hamartoma syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0007804 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 http://purl.obolibrary.org/obo/MONDO_0020119 http://www.orpha.net/ORDO/Orphanet_2257 Familial primary pulmonary hypoplasia 'Familial primary pulmonary hypoplasia' SubClassOf 'Genetic respiratory malformation' 'Familial primary pulmonary hypoplasia' SubClassOf 'Non-syndromic respiratory or mediastinal malformation' 'Familial primary pulmonary hypoplasia' SubClassOf 'Genetic respiratory malformation' 'Familial primary pulmonary hypoplasia' SubClassOf 'Non-syndromic respiratory or mediastinal malformation' http://www.orpha.net/ORDO/Orphanet_2256 Fibulo-ulnar hypoplasia - renal anomalies 'Fibulo-ulnar hypoplasia - renal anomalies' SubClassOf 'Syndromic renal or urinary tract malformation' 'Fibulo-ulnar hypoplasia - renal anomalies' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Fibulo-ulnar hypoplasia - renal anomalies' SubClassOf 'Syndromic renal or urinary tract malformation' 'Fibulo-ulnar hypoplasia - renal anomalies' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_2266 Hypotrichosis-intellectual disability, Lopes type 'Hypotrichosis-intellectual disability, Lopes type' SubClassOf 'has modifier' some 'rare' 'Hypotrichosis-intellectual disability, Lopes type' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_2261 Hypospadias - intellectual disability, Goldblatt type 'Hypospadias - intellectual disability, Goldblatt type' SubClassOf 'syndromic intellectual disability' 'Hypospadias - intellectual disability, Goldblatt type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Hypospadias - intellectual disability, Goldblatt type' SubClassOf 'congenital nervous system disorder' 'Hypospadias - intellectual disability, Goldblatt type' SubClassOf 'Syndromic urogenital tract malformation' 'Hypospadias - intellectual disability, Goldblatt type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Hypospadias - intellectual disability, Goldblatt type' SubClassOf 'Syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0010436 chromosome Xq28 duplication syndrome 'chromosome Xq28 duplication syndrome' SubClassOf 'syndromic X-linked intellectual disability Lubs type' 'chromosome Xq28 duplication syndrome' SubClassOf 'syndromic X-linked intellectual disability Lubs type' http://www.orpha.net/ORDO/Orphanet_2269 Ichthyosis - alopecia - eclabion - ectropion - intellectual disability 'Ichthyosis - alopecia - eclabion - ectropion - intellectual disability' SubClassOf 'syndromic intellectual disability' 'Ichthyosis - alopecia - eclabion - ectropion - intellectual disability' SubClassOf 'Ectodermal dysplasia syndrome' 'Ichthyosis - alopecia - eclabion - ectropion - intellectual disability' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_2268 ICF syndrome 'ICF syndrome' SubClassOf 'autosomal recessive disease' 'ICF syndrome' SubClassOf 'telomere syndrome' http://purl.obolibrary.org/obo/MONDO_0009440 ichthyosiform erythroderma, corneal involvement, and hearing loss 'ichthyosiform erythroderma, corneal involvement, and hearing loss' SubClassOf 'KID syndrome' 'ichthyosiform erythroderma, corneal involvement, and hearing loss' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018781 http://www.orpha.net/ORDO/Orphanet_2200 Focal palmoplantar and gingival keratoderma 'Focal palmoplantar and gingival keratoderma' SubClassOf 'Focal palmoplantar keratoderma' http://www.orpha.net/ORDO/Orphanet_2207 Familial primary hyperparathyroidism 'Familial primary hyperparathyroidism' SubClassOf 'Genetic hyperparathyroidism' 'Familial primary hyperparathyroidism' EquivalentTo 'primary hyperparathyroidism' and ('has modifier' some 'inherited') 'Familial primary hyperparathyroidism' SubClassOf 'primary hyperparathyroidism' 'Familial primary hyperparathyroidism' SubClassOf 'tumor of parathyroid gland' 'Familial primary hyperparathyroidism' SubClassOf 'has modifier' some 'rare' 'Familial primary hyperparathyroidism' SubClassOf 'Genetic hyperparathyroidism' http://www.orpha.net/ORDO/Orphanet_2206 Ankylosing vertebral hyperostosis with tylosis 'Ankylosing vertebral hyperostosis with tylosis' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' 'Ankylosing vertebral hyperostosis with tylosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2204 Dysplastic cortical hyperostosis 'Dysplastic cortical hyperostosis' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_2203 Hyperlysinemia 'Hyperlysinemia' SubClassOf 'Disorder of lysine and hydroxylysine metabolism' 'Hyperlysinemia' SubClassOf 'Disorder of lysine and hydroxylysine metabolism' http://www.orpha.net/ORDO/Orphanet_2202 Palmoplantar keratoderma-deafness syndrome 'Palmoplantar keratoderma-deafness syndrome' SubClassOf 'Syndromic genetic deafness' 'Palmoplantar keratoderma-deafness syndrome' SubClassOf 'Diffuse palmoplantar keratoderma' 'Palmoplantar keratoderma-deafness syndrome' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_2201 Palmoplantar keratoderma-spastic paralysis syndrome 'Palmoplantar keratoderma-spastic paralysis syndrome' SubClassOf 'palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome' http://www.orpha.net/ORDO/Orphanet_2211 Hypertelorism - hypospadias - polysyndactyly syndrome 'Hypertelorism - hypospadias - polysyndactyly syndrome' SubClassOf 'Acro-fronto-facio-nasal dysostosis' 'Hypertelorism - hypospadias - polysyndactyly syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Hypertelorism - hypospadias - polysyndactyly syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'Hypertelorism - hypospadias - polysyndactyly syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Hypertelorism - hypospadias - polysyndactyly syndrome' SubClassOf 'Syndromic urogenital tract malformation' http://www.orpha.net/ORDO/Orphanet_2218 Cervical hypertrichosis - peripheral neuropathy 'Cervical hypertrichosis - peripheral neuropathy' SubClassOf 'Rare genetic neurological disorder' 'Cervical hypertrichosis - peripheral neuropathy' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Cervical hypertrichosis - peripheral neuropathy' SubClassOf 'Hypertrichosis' 'Cervical hypertrichosis - peripheral neuropathy' SubClassOf 'central nervous system malformation' 'Cervical hypertrichosis - peripheral neuropathy' SubClassOf 'Hypertrichosis' http://www.orpha.net/ORDO/Orphanet_2215 Malignant hyperthermia - arthrogryposis - torticollis 'Malignant hyperthermia - arthrogryposis - torticollis' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Malignant hyperthermia - arthrogryposis - torticollis' SubClassOf 'Arthrogryposis multiplex congenita' 'Malignant hyperthermia - arthrogryposis - torticollis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2213 Hypertelorism-microtia-facial clefting syndrome 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf 'autosomal recessive disease' 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf 'Orofacial clefting syndrome' 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf 'congenital nervous system disorder' 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf 'syndromic intellectual disability' 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf 'Orofacial clefting syndrome' 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf 'Genetic branchial arch or oral-acral syndrome' http://www.orpha.net/ORDO/Orphanet_2209 Maternal hyperphenylalaninemia 'Maternal hyperphenylalaninemia' SubClassOf 'Phenylketonuria' 'Maternal hyperphenylalaninemia' SubClassOf 'maternal disease-related embryofetopathy' 'Maternal hyperphenylalaninemia' SubClassOf 'Developmental anomaly of metabolic origin' 'Maternal hyperphenylalaninemia' SubClassOf 'teratogenic Pierre Robin syndrome' 'Maternal hyperphenylalaninemia' SubClassOf 'genetic otorhinolaryngologic disease' 'Maternal hyperphenylalaninemia' SubClassOf 'Disorder of phenylalanine metabolism' http://www.orpha.net/ORDO/Orphanet_2222 Hypertrichosis lanuginosa congenita 'Hypertrichosis lanuginosa congenita' SubClassOf 'Ectodermal dysplasia syndrome' 'Hypertrichosis lanuginosa congenita' SubClassOf 'Hypertrichosis' 'Hypertrichosis lanuginosa congenita' SubClassOf 'Ectodermal dysplasia syndrome' 'Hypertrichosis lanuginosa congenita' SubClassOf 'Hypertrichosis' http://www.orpha.net/ORDO/Orphanet_2220 Hypertrichosis cubiti - short stature 'Hypertrichosis cubiti - short stature' SubClassOf 'Hypertrichosis' 'Hypertrichosis cubiti - short stature' SubClassOf 'Ectodermal dysplasia syndrome' 'Hypertrichosis cubiti - short stature' SubClassOf 'Hypertrichosis' 'Hypertrichosis cubiti - short stature' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_2229 Dilated cardiomyopathy - hypergonadotropic hypogonadism 'Dilated cardiomyopathy - hypergonadotropic hypogonadism' SubClassOf 'endocrine system disease' 'Dilated cardiomyopathy - hypergonadotropic hypogonadism' SubClassOf 'male reproductive system disease' 'Dilated cardiomyopathy - hypergonadotropic hypogonadism' SubClassOf 'heart disease' 'Dilated cardiomyopathy - hypergonadotropic hypogonadism' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_2228 Hypodontia - dysplasia of nails 'Hypodontia - dysplasia of nails' SubClassOf 'Ectodermal dysplasia syndrome' 'Hypodontia - dysplasia of nails' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_2224 Hypertryptophanemia 'Hypertryptophanemia' SubClassOf 'Disorder of tryptophan metabolism' 'Hypertryptophanemia' SubClassOf 'Disorder of tryptophan metabolism' http://www.ebi.ac.uk/efo/EFO_1001039 Melkersson-Rosenthal syndrome 'Melkersson-Rosenthal syndrome' SubClassOf 'syndromic disease' 'Melkersson-Rosenthal syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_1001041 mesenchymal chondrosarcoma 'mesenchymal chondrosarcoma' SubClassOf 'chondrosarcoma' 'mesenchymal chondrosarcoma' SubClassOf 'chondrosarcoma' http://www.ebi.ac.uk/efo/EFO_1001048 mucinous cystadenoma 'mucinous cystadenoma' SubClassOf 'cystadenoma' 'mucinous cystadenoma' SubClassOf 'cystadenoma' http://www.ebi.ac.uk/efo/EFO_1001044 mesothelial neoplasm 'mesothelial neoplasm' SubClassOf 'neoplasm' 'mesothelial neoplasm' SubClassOf 'neoplasm' http://www.ebi.ac.uk/efo/EFO_1001053 myoclonic cerebellar dyssynergia 'myoclonic cerebellar dyssynergia' SubClassOf 'Genetic neurodegenerative disease' 'myoclonic cerebellar dyssynergia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024237 http://www.orpha.net/ORDO/Orphanet_227976 Autosomal recessive optic atrophy, OPA7 type 'Autosomal recessive optic atrophy, OPA7 type' SubClassOf 'hereditary optic atrophy' 'Autosomal recessive optic atrophy, OPA7 type' SubClassOf 'syndromic hereditary optic neuropathy' http://www.ebi.ac.uk/efo/EFO_1001070 ocular tuberculosis 'ocular tuberculosis' SubClassOf 'Tuberculosis' http://www.ebi.ac.uk/efo/EFO_1001085 paraneoplastic polyneuropathy 'paraneoplastic polyneuropathy' SubClassOf 'polyneuropathy' 'paraneoplastic polyneuropathy' SubClassOf 'polyneuropathy' http://www.ebi.ac.uk/efo/EFO_1001083 papillary follicular thyroid adenocarcinoma 'papillary follicular thyroid adenocarcinoma' SubClassOf 'follicular thyroid carcinoma' 'papillary follicular thyroid adenocarcinoma' SubClassOf 'follicular thyroid carcinoma' http://www.ebi.ac.uk/efo/EFO_1001097 periarthritis 'periarthritis' SubClassOf 'arthritis' 'periarthritis' SubClassOf 'arthritis' http://www.ebi.ac.uk/efo/EFO_1001093 Pelger-Huet anomaly 'Pelger-Huet anomaly' SubClassOf 'laminopathy' 'Pelger-Huet anomaly' SubClassOf 'laminopathy' http://www.ebi.ac.uk/efo/EFO_1001092 patellofemoral pain syndrome 'patellofemoral pain syndrome' SubClassOf 'limb disorder' http://www.ebi.ac.uk/efo/EFO_1001202 suppurative periapical periodontitis 'suppurative periapical periodontitis' SubClassOf 'Periapical Periodontitis' 'suppurative periapical periodontitis' SubClassOf 'Periapical Periodontitis' http://www.ebi.ac.uk/efo/EFO_1001200 sulfhemoglobinemia 'sulfhemoglobinemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044348 http://www.ebi.ac.uk/efo/EFO_1001208 tarsal tunnel syndrome 'tarsal tunnel syndrome' SubClassOf 'syndromic disease' 'tarsal tunnel syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_1001211 thromboangiitis obliterans 'thromboangiitis obliterans' SubClassOf 'peripheral vascular disease' 'thromboangiitis obliterans' SubClassOf 'peripheral vascular disease' http://www.ebi.ac.uk/efo/EFO_1001210 tethered spinal cord syndrome 'tethered spinal cord syndrome' SubClassOf 'syndromic disease' 'tethered spinal cord syndrome' SubClassOf 'Rare genetic neurological disorder' 'tethered spinal cord syndrome' SubClassOf 'syndromic disease' 'tethered spinal cord syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.ebi.ac.uk/efo/EFO_1001219 trigeminal neuralgia 'trigeminal neuralgia' SubClassOf 'cranial neuralgia' 'trigeminal neuralgia' SubClassOf 'cranial neuralgia' http://www.ebi.ac.uk/efo/EFO_1001224 ulnar neuropathy 'ulnar neuropathy' SubClassOf 'limb disorder' http://www.ebi.ac.uk/efo/EFO_1001229 maculopapular cutaneous mastocytosis 'maculopapular cutaneous mastocytosis' SubClassOf 'cutaneous mastocytosis' 'maculopapular cutaneous mastocytosis' SubClassOf 'cutaneous mastocytosis' http://www.ebi.ac.uk/efo/EFO_1001232 uveoparotid fever 'uveoparotid fever' SubClassOf 'Sarcoidosis' 'uveoparotid fever' SubClassOf 'Sarcoidosis' 'uveoparotid fever' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019338 http://www.ebi.ac.uk/efo/EFO_1001238 vitreous detachment 'vitreous detachment' SubClassOf 'Vitreoretinopathy' 'vitreous detachment' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020246 'vitreous detachment' SubClassOf 'Vitreoretinopathy' http://www.ebi.ac.uk/efo/EFO_1001242 Wernicke-Korsakoff syndrome 'Wernicke-Korsakoff syndrome' SubClassOf 'syndromic disease' 'Wernicke-Korsakoff syndrome' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_308386 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A' SubClassOf 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency' 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A' SubClassOf 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency' http://www.ebi.ac.uk/efo/EFO_1001257 acute erythroblastic leukemia 'acute erythroblastic leukemia' SubClassOf 'Inherited acute myeloid leukemia' 'acute erythroblastic leukemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017893 http://www.orpha.net/ORDO/Orphanet_308380 Methylcobalamin deficiency type cblDv1 'Methylcobalamin deficiency type cblDv1' SubClassOf 'Homocystinuria without methylmalonic aciduria' 'Methylcobalamin deficiency type cblDv1' SubClassOf 'Homocystinuria without methylmalonic aciduria' http://www.ebi.ac.uk/efo/EFO_1001252 gastric cardia carcinoma 'gastric cardia carcinoma' SubClassOf 'cardia cancer' 'gastric cardia carcinoma' SubClassOf 'gastric carcinoma' 'gastric cardia carcinoma' SubClassOf 'cardia cancer' 'gastric cardia carcinoma' SubClassOf 'gastric carcinoma' http://www.orpha.net/ORDO/Orphanet_308393 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B' SubClassOf 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency' 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B' SubClassOf 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency' http://www.orpha.net/ORDO/Orphanet_2078 Geroderma osteodysplastica 'Geroderma osteodysplastica' SubClassOf 'inherited cutis laxa' http://www.orpha.net/ORDO/Orphanet_2077 German syndrome 'German syndrome' SubClassOf 'Primary lymphedema' 'German syndrome' SubClassOf 'fetal trimethadione syndrome' 'German syndrome' SubClassOf 'Syndromic lymphedema' 'German syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2076 X-linked intellectual disability - epilepsy 'X-linked intellectual disability - epilepsy' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability - epilepsy' SubClassOf 'Monogenic disease with epilepsy' 'X-linked intellectual disability - epilepsy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 'X-linked intellectual disability - epilepsy' SubClassOf 'Monogenic disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_2075 Genito-palato-cardiac syndrome 'Genito-palato-cardiac syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Genito-palato-cardiac syndrome' SubClassOf 'Genetic 46,XY disorder of sex development' 'Genito-palato-cardiac syndrome' SubClassOf 'Orofacial clefting syndrome' 'Genito-palato-cardiac syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Genito-palato-cardiac syndrome' SubClassOf 'Orofacial clefting syndrome' http://www.orpha.net/ORDO/Orphanet_2072 Gaucher disease - ophthalmoplegia - cardiovascular calcification 'Gaucher disease - ophthalmoplegia - cardiovascular calcification' SubClassOf 'Gaucher disease' 'Gaucher disease - ophthalmoplegia - cardiovascular calcification' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018150 http://www.orpha.net/ORDO/Orphanet_2089 Glycogen storage disease due to hepatic glycogen synthase deficiency 'Glycogen storage disease due to hepatic glycogen synthase deficiency' SubClassOf 'Glycogen storage disease' http://www.orpha.net/ORDO/Orphanet_2088 Glycogen storage disease due to GLUT2 deficiency 'Glycogen storage disease due to GLUT2 deficiency' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Glycogen storage disease due to GLUT2 deficiency' SubClassOf 'Glucose transport disorder' 'Glycogen storage disease due to GLUT2 deficiency' SubClassOf 'Glycogen storage disease' 'Glycogen storage disease due to GLUT2 deficiency' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Glycogen storage disease due to GLUT2 deficiency' SubClassOf 'Glucose transport disorder' 'Glycogen storage disease due to GLUT2 deficiency' SubClassOf 'Glycogen storage disease' http://www.orpha.net/ORDO/Orphanet_2085 Glaucoma - sleep apnea 'Glaucoma - sleep apnea' SubClassOf 'eye disease' 'Glaucoma - sleep apnea' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_2084 Glaucoma - ectopia - microspherophakia - stiff joints - short stature 'Glaucoma - ectopia - microspherophakia - stiff joints - short stature' SubClassOf 'Weill-Marchesani syndrome' 'Glaucoma - ectopia - microspherophakia - stiff joints - short stature' SubClassOf 'Syndromic developmental defect of the eye' 'Glaucoma - ectopia - microspherophakia - stiff joints - short stature' SubClassOf 'Lens size anomaly' http://www.orpha.net/ORDO/Orphanet_2083 Prominent glabella - microcephaly - hypogenitalism 'Prominent glabella - microcephaly - hypogenitalism' SubClassOf 'congenital nervous system disorder' 'Prominent glabella - microcephaly - hypogenitalism' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Prominent glabella - microcephaly - hypogenitalism' SubClassOf 'syndromic intellectual disability' 'Prominent glabella - microcephaly - hypogenitalism' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_2098 Acromesomelic dysplasia, Grebe type 'Acromesomelic dysplasia, Grebe type' SubClassOf 'Achondrogenesis' 'Acromesomelic dysplasia, Grebe type' SubClassOf 'Acromesomelic dysplasia' 'Acromesomelic dysplasia, Grebe type' SubClassOf 'Acromesomelic dysplasia' http://www.orpha.net/ORDO/Orphanet_2097 Grant syndrome 'Grant syndrome' SubClassOf 'genetic disorder' 'Grant syndrome' SubClassOf 'Primary bone dysplasia with decreased bone density' 'Grant syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2095 Gorlin-Chaudhry-Moss syndrome 'Gorlin-Chaudhry-Moss syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Gorlin-Chaudhry-Moss syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Gorlin-Chaudhry-Moss syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_97548 Ivemark syndrome 'Ivemark syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Ivemark syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'Ivemark syndrome' SubClassOf 'visceral heterotaxy' 'Ivemark syndrome' SubClassOf 'Genetic cardiac anomaly' 'Ivemark syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' http://www.orpha.net/ORDO/Orphanet_97555 Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy 'Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy' SubClassOf 'Sporadic idiopathic steroid-resistant nephrotic syndrome' 'Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy' SubClassOf 'Sporadic idiopathic steroid-resistant nephrotic syndrome' http://www.orpha.net/ORDO/Orphanet_2092 Focal dermal hypoplasia 'Focal dermal hypoplasia' SubClassOf 'Ectodermal dysplasia syndrome' 'Focal dermal hypoplasia' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Focal dermal hypoplasia' SubClassOf 'mixed dermis disorder' 'Focal dermal hypoplasia' SubClassOf 'Lens shape anomaly' 'Focal dermal hypoplasia' SubClassOf 'X-linked syndromic intellectual disability' 'Focal dermal hypoplasia' SubClassOf 'Ectodermal dysplasia syndrome' 'Focal dermal hypoplasia' SubClassOf 'Lens shape anomaly' 'Focal dermal hypoplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 http://www.orpha.net/ORDO/Orphanet_2091 Multinodular goiter - cystic kidney - polydactyly 'Multinodular goiter - cystic kidney - polydactyly' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Multinodular goiter - cystic kidney - polydactyly' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_2090 GMS syndrome 'GMS syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'GMS syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'GMS syndrome' SubClassOf 'Goniodysgenesis' 'GMS syndrome' SubClassOf 'syndromic intellectual disability' 'GMS syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0000904 complex cortical dysplasia with other brain malformations 'complex cortical dysplasia with other brain malformations' SubClassOf 'Rare genetic neurological disorder' 'complex cortical dysplasia with other brain malformations' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.orpha.net/ORDO/Orphanet_357329 Cryptosporidiosis - chronic cholangitis - liver disease 'Cryptosporidiosis - chronic cholangitis - liver disease' SubClassOf 'non-SCID combined immunodeficiency' 'Cryptosporidiosis - chronic cholangitis - liver disease' SubClassOf 'Combined T and B cell immunodeficiency' http://www.orpha.net/ORDO/Orphanet_2031 Hepatic fibrosis - renal cysts - intellectual disability 'Hepatic fibrosis - renal cysts - intellectual disability' SubClassOf 'syndromic intellectual disability' 'Hepatic fibrosis - renal cysts - intellectual disability' SubClassOf 'Familial cystic renal disease' 'Hepatic fibrosis - renal cysts - intellectual disability' SubClassOf 'Genetic parenchymatous liver disease' 'Hepatic fibrosis - renal cysts - intellectual disability' SubClassOf 'Familial cystic renal disease' 'Hepatic fibrosis - renal cysts - intellectual disability' SubClassOf 'Genetic parenchymatous liver disease' http://www.orpha.net/ORDO/Orphanet_357332 Syndactyly - camptodactyly and clinodactyly of fifth fingers - bifid toes 'Syndactyly - camptodactyly and clinodactyly of fifth fingers - bifid toes' SubClassOf 'congenital limb malformation' http://www.orpha.net/ORDO/Orphanet_2036 Scalp-ear-nipple syndrome 'Scalp-ear-nipple syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Scalp-ear-nipple syndrome' SubClassOf 'mixed dermis disorder' 'Scalp-ear-nipple syndrome' SubClassOf 'deficient breast volume or number' 'Scalp-ear-nipple syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Scalp-ear-nipple syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Scalp-ear-nipple syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_2045 FLOTCH syndrome 'FLOTCH syndrome' SubClassOf 'Syndromic nail anomaly' 'FLOTCH syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2044 Floating-Harbor syndrome 'Floating-Harbor syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Floating-Harbor syndrome' SubClassOf 'syndromic intellectual disability' 'Floating-Harbor syndrome' SubClassOf 'congenital nervous system disorder' 'Floating-Harbor syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_2042 Tracheo-esophageal fistula - hypospadias 'Tracheo-esophageal fistula - hypospadias' SubClassOf 'syndromic respiratory or mediastinal malformation' 'Tracheo-esophageal fistula - hypospadias' SubClassOf 'non-syndromic urogenital tract malformation' http://www.orpha.net/ORDO/Orphanet_2047 Flynn-Aird syndrome 'Flynn-Aird syndrome' SubClassOf 'Premature aging' 'Flynn-Aird syndrome' SubClassOf 'autosomal dominant disease' 'Flynn-Aird syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2057 Blepharophimosis - ptosis - esotropia - syndactyly - short stature 'Blepharophimosis - ptosis - esotropia - syndactyly - short stature' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Blepharophimosis - ptosis - esotropia - syndactyly - short stature' SubClassOf 'Eyelids malposition disorder' 'Blepharophimosis - ptosis - esotropia - syndactyly - short stature' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_2056 Essential fructosuria 'Essential fructosuria' SubClassOf 'Disorder of fructose metabolism' 'Essential fructosuria' SubClassOf 'Disorder of fructose metabolism' http://www.orpha.net/ORDO/Orphanet_2053 Freeman-Sheldon syndrome 'Freeman-Sheldon syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Freeman-Sheldon syndrome' SubClassOf 'syndromic disease' 'Freeman-Sheldon syndrome' SubClassOf 'congenital nervous system disorder' 'Freeman-Sheldon syndrome' SubClassOf 'arthrogryposis' 'Freeman-Sheldon syndrome' SubClassOf 'Distal arthrogryposis' 'Freeman-Sheldon syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Freeman-Sheldon syndrome' SubClassOf 'Distal arthrogryposis' http://www.orpha.net/ORDO/Orphanet_2052 Fraser syndrome 'Fraser syndrome' SubClassOf 'Syndromic anorectal malformation' 'Fraser syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Fraser syndrome' SubClassOf 'Syndromic genetic deafness' 'Fraser syndrome' SubClassOf 'Cryptophthalmia' 'Fraser syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Fraser syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Fraser syndrome' SubClassOf 'congenital nervous system disorder' 'Fraser syndrome' SubClassOf 'autosomal recessive disease' 'Fraser syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'Fraser syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2050 Cole-Carpenter syndrome 'Cole-Carpenter syndrome' SubClassOf 'syndromic disease' 'Cole-Carpenter syndrome' SubClassOf 'Primary bone dysplasia' 'Cole-Carpenter syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Cole-Carpenter syndrome' SubClassOf 'Osteogenesis imperfecta' 'Cole-Carpenter syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2059 Fryns syndrome 'Fryns syndrome' SubClassOf 'syndromic diaphragmatic or abdominal wall malformation' 'Fryns syndrome' SubClassOf 'Orofacial clefting syndrome' 'Fryns syndrome' SubClassOf 'syndromic intellectual disability' 'Fryns syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Fryns syndrome' SubClassOf 'congenital nervous system disorder' 'Fryns syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Fryns syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2067 GAPO syndrome 'GAPO syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'GAPO syndrome' SubClassOf 'syndromic intellectual disability' 'GAPO syndrome' SubClassOf 'Autosomal recessive syndromic optic atrophy' 'GAPO syndrome' SubClassOf 'syndromic hereditary optic neuropathy' 'GAPO syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'GAPO syndrome' SubClassOf 'congenital nervous system disorder' 'GAPO syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'GAPO syndrome' SubClassOf 'syndromic hereditary optic neuropathy' 'GAPO syndrome' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_2066 Gamma-aminobutyric acid transaminase deficiency 'Gamma-aminobutyric acid transaminase deficiency' SubClassOf 'Neurometabolic disease' 'Gamma-aminobutyric acid transaminase deficiency' SubClassOf 'Disorder of beta and omega amino acid metabolism' 'Gamma-aminobutyric acid transaminase deficiency' SubClassOf 'Cerebral organic aciduria' 'Gamma-aminobutyric acid transaminase deficiency' SubClassOf 'gamma-amino butyric acid metabolism disorder' 'Gamma-aminobutyric acid transaminase deficiency' SubClassOf 'Neurometabolic disease' 'Gamma-aminobutyric acid transaminase deficiency' SubClassOf 'Disorder of gamma-aminobutyric acid metabolism' 'Gamma-aminobutyric acid transaminase deficiency' SubClassOf 'Disorder of beta and omega amino acid metabolism' http://www.orpha.net/ORDO/Orphanet_2065 Galloway-Mowat syndrome 'Galloway-Mowat syndrome' SubClassOf 'autosomal recessive disease' 'Galloway-Mowat syndrome' SubClassOf 'Primary glomerular disease' 'Galloway-Mowat syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Galloway-Mowat syndrome' SubClassOf 'syndromic intellectual disability' 'Galloway-Mowat syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2064 Posterior fusion of lumbosacral vertebrae - blepharoptosis 'Posterior fusion of lumbosacral vertebrae - blepharoptosis' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Posterior fusion of lumbosacral vertebrae - blepharoptosis' SubClassOf 'syndromic disease' 'Posterior fusion of lumbosacral vertebrae - blepharoptosis' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_2063 Splenogonadal fusion - limb defects - micrognathia 'Splenogonadal fusion - limb defects - micrognathia' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Splenogonadal fusion - limb defects - micrognathia' SubClassOf 'congenital limb malformation' 'Splenogonadal fusion - limb defects - micrognathia' SubClassOf 'Syndromic visceral malformation' 'Splenogonadal fusion - limb defects - micrognathia' SubClassOf 'Dysostosis of genetic origin' 'Splenogonadal fusion - limb defects - micrognathia' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Splenogonadal fusion - limb defects - micrognathia' SubClassOf 'Syndromic visceral malformation' http://www.orpha.net/ORDO/Orphanet_2062 Progressive non-infectious anterior vertebral fusion 'Progressive non-infectious anterior vertebral fusion' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Progressive non-infectious anterior vertebral fusion' SubClassOf 'Dysostosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0012933 breast-ovarian cancer, familial, susceptibility to, 2 'breast-ovarian cancer, familial, susceptibility to, 2' SubClassOf 'Hereditary breast and ovarian cancer syndrome' 'breast-ovarian cancer, familial, susceptibility to, 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003582 http://www.orpha.net/ORDO/Orphanet_2069 Gastrocutaneous syndrome 'Gastrocutaneous syndrome' SubClassOf 'Genetic hyperpigmentation of the skin' 'Gastrocutaneous syndrome' SubClassOf 'Genetic hyperpigmentation of the skin' http://purl.obolibrary.org/obo/MONDO_0000956 small intestine cancer 'small intestine cancer' SubClassOf 'intestinal cancer' 'small intestine cancer' SubClassOf 'small intestine neoplasm' 'small intestine cancer' SubClassOf 'intestinal cancer' 'small intestine cancer' SubClassOf 'small intestine neoplasm' http://purl.obolibrary.org/obo/MONDO_0000959 malignant hypertensive renal disease 'malignant hypertensive renal disease' SubClassOf 'Genetic hypertension' 'malignant hypertensive renal disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015512 http://www.orpha.net/ORDO/Orphanet_2110 Hallux varus - preaxial polysyndactyly 'Hallux varus - preaxial polysyndactyly' SubClassOf 'congenital limb malformation' http://purl.obolibrary.org/obo/MONDO_0000962 spindle cell lipoma 'spindle cell lipoma' SubClassOf 'lipoma' 'spindle cell lipoma' SubClassOf 'lipoma' http://www.orpha.net/ORDO/Orphanet_2118 Hawkinsinuria 'Hawkinsinuria' SubClassOf 'Disorder of tyrosine metabolism' 'Hawkinsinuria' SubClassOf 'Disorder of tyrosine metabolism' http://purl.obolibrary.org/obo/MONDO_0012944 chromosome 17P13.3, telomeric, duplication syndrome 'chromosome 17P13.3, telomeric, duplication syndrome' SubClassOf 'Tibial aplasia - ectrodactyly' 'chromosome 17P13.3, telomeric, duplication syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018050 http://www.orpha.net/ORDO/Orphanet_2117 Hartsfield-Bixler-Demyer syndrome 'Hartsfield-Bixler-Demyer syndrome' SubClassOf 'Orofacial clefting syndrome' 'Hartsfield-Bixler-Demyer syndrome' SubClassOf 'Rare genetic neurological disorder' 'Hartsfield-Bixler-Demyer syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Hartsfield-Bixler-Demyer syndrome' SubClassOf 'syndromic intellectual disability' 'Hartsfield-Bixler-Demyer syndrome' SubClassOf 'congenital nervous system disorder' 'Hartsfield-Bixler-Demyer syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2116 Hartnup disease 'Hartnup disease' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Hartnup disease' SubClassOf 'Genetic photodermatosis' 'Hartnup disease' SubClassOf 'Neurometabolic disease' 'Hartnup disease' SubClassOf 'Cerebral organic aciduria' 'Hartnup disease' SubClassOf 'Disorder of neutral amino acid transport' 'Hartnup disease' SubClassOf 'inherited amino acid metabolic disorder' 'Hartnup disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2115 Harrod syndrome 'Harrod syndrome' SubClassOf 'syndromic intellectual disability' 'Harrod syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Harrod syndrome' SubClassOf 'congenital nervous system disorder' 'Harrod syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Harrod syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2114 Hip dysplasia, Beukes type 'Hip dysplasia, Beukes type' SubClassOf 'Multiple epiphyseal dysplasia and pseudoachondroplasia' 'Hip dysplasia, Beukes type' SubClassOf 'Multiple epiphyseal dysplasia and pseudoachondroplasia' http://www.orpha.net/ORDO/Orphanet_262201 Partial duplication of chromosome 3 'Partial duplication of chromosome 3' SubClassOf 'Partial autosomal trisomy/tetrasomy' 'Partial duplication of chromosome 3' SubClassOf 'syndrome caused by partial chromosomal duplication' 'Partial duplication of chromosome 3' SubClassOf 'chromosome 3 disorder' 'Partial duplication of chromosome 3' SubClassOf 'Partial autosomal trisomy/tetrasomy' http://www.orpha.net/ORDO/Orphanet_308400 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C' SubClassOf 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency' 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C' SubClassOf 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency' http://www.orpha.net/ORDO/Orphanet_308407 Disorder of beta and omega amino acid metabolism 'Disorder of beta and omega amino acid metabolism' SubClassOf 'Disorder of amino acid and other organic acid metabolism' 'Disorder of beta and omega amino acid metabolism' SubClassOf 'Disorder of amino acid and other organic acid metabolism' http://www.orpha.net/ORDO/Orphanet_308410 Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency 'Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency' SubClassOf 'Disorder of branched-chain amino acid metabolism' 'Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2128 Hemihypertrophy 'Hemihypertrophy' SubClassOf 'Overgrowth syndrome' 'Hemihypertrophy' SubClassOf 'Overgrowth syndrome' http://www.orpha.net/ORDO/Orphanet_2124 Cavernous hemangiomas of face - supraumbilical midline raphe 'Cavernous hemangiomas of face - supraumbilical midline raphe' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_2134 Atypical hemolytic-uremic syndrome 'Atypical hemolytic-uremic syndrome' SubClassOf 'syndromic disease' 'Atypical hemolytic-uremic syndrome' SubClassOf 'hemolytic-uremic syndrome' 'Atypical hemolytic-uremic syndrome' SubClassOf 'complement deficiency' 'Atypical hemolytic-uremic syndrome' SubClassOf 'Genetic thrombotic microangiopathy' http://www.orpha.net/ORDO/Orphanet_2133 Hemoglobin E disease 'Hemoglobin E disease' SubClassOf 'anemia' 'Hemoglobin E disease' SubClassOf 'inherited hemoglobinopathy' http://www.orpha.net/ORDO/Orphanet_2132 Hemoglobin C disease 'Hemoglobin C disease' SubClassOf 'inherited hemoglobinopathy' 'Hemoglobin C disease' SubClassOf 'anemia' http://www.orpha.net/ORDO/Orphanet_2131 Alternating hemiplegia of childhood 'Alternating hemiplegia of childhood' SubClassOf 'hemiplegia' 'Alternating hemiplegia of childhood' SubClassOf 'Alternating hemiplegia' 'Alternating hemiplegia of childhood' SubClassOf 'neurodevelopmental disorder' 'Alternating hemiplegia of childhood' SubClassOf 'Alternating hemiplegia' http://www.orpha.net/ORDO/Orphanet_2130 Hemimelia 'Hemimelia' SubClassOf 'Non-syndromic limb reduction defect' 'Hemimelia' SubClassOf 'Non-syndromic limb reduction defect' http://www.orpha.net/ORDO/Orphanet_2139 Hernández-Aguirre Negrete syndrome 'Hernández-Aguirre Negrete syndrome' SubClassOf 'syndromic intellectual disability' 'Hernández-Aguirre Negrete syndrome' SubClassOf 'congenital nervous system disorder' 'Hernández-Aguirre Negrete syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Hernández-Aguirre Negrete syndrome' SubClassOf 'Ehlers-Danlos syndrome' 'Hernández-Aguirre Negrete syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Hernández-Aguirre Negrete syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2138 46,XX ovotesticular disorder of sex development '46,XX ovotesticular disorder of sex development' SubClassOf '46,XX disorder of gonadal development' '46,XX ovotesticular disorder of sex development' SubClassOf 'Gonadal dysgenesis of gynecological interest' '46,XX ovotesticular disorder of sex development' SubClassOf 'Female infertility due to gonadal dysgenesis' '46,XX ovotesticular disorder of sex development' SubClassOf 'female infertility' '46,XX ovotesticular disorder of sex development' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2136 Hennekam syndrome 'Hennekam syndrome' SubClassOf 'Syndromic lymphedema' 'Hennekam syndrome' SubClassOf 'neurovascular disorder' 'Hennekam syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Hennekam syndrome' SubClassOf 'Primary immunodeficiency due to a defect in adaptive immunity' 'Hennekam syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Hennekam syndrome' SubClassOf 'congenital nervous system disorder' 'Hennekam syndrome' SubClassOf 'Milroy disease' 'Hennekam syndrome' SubClassOf 'syndromic intellectual disability' 'Hennekam syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2135 Hennekam-Beemer syndrome 'Hennekam-Beemer syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' 'Hennekam-Beemer syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Hennekam-Beemer syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2145 Craniosynostosis, Herrmann-Opitz type 'Craniosynostosis, Herrmann-Opitz type' SubClassOf 'Syndromic craniosynostosis' 'Craniosynostosis, Herrmann-Opitz type' SubClassOf 'Syndromic craniosynostosis' http://www.orpha.net/ORDO/Orphanet_2143 Donnai-Barrow syndrome 'Donnai-Barrow syndrome' SubClassOf 'syndromic diaphragmatic or thoracic malformation' 'Donnai-Barrow syndrome' SubClassOf 'autosomal recessive disease' 'Donnai-Barrow syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Donnai-Barrow syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' 'Donnai-Barrow syndrome' SubClassOf 'syndromic diaphragmatic or abdominal wall malformation' 'Donnai-Barrow syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2141 Diaphragmatic defect - limb deficiency - skull defect 'Diaphragmatic defect - limb deficiency - skull defect' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Diaphragmatic defect - limb deficiency - skull defect' SubClassOf 'syndromic diaphragmatic or abdominal wall malformation' 'Diaphragmatic defect - limb deficiency - skull defect' SubClassOf 'syndromic diaphragmatic or thoracic malformation' 'Diaphragmatic defect - limb deficiency - skull defect' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0000995 familial periodic paralysis 'familial periodic paralysis' SubClassOf 'Metabolic myopathy' 'familial periodic paralysis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020123 'familial periodic paralysis' SubClassOf 'periodic paralysis' http://www.orpha.net/ORDO/Orphanet_2149 Nodular neuronal heterotopia 'Nodular neuronal heterotopia' SubClassOf 'has modifier' some 'rare' 'Nodular neuronal heterotopia' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010318 FG syndrome 4 'FG syndrome 4' SubClassOf 'fg syndrome' 'FG syndrome 4' SubClassOf 'fg syndrome' http://www.orpha.net/ORDO/Orphanet_2148 Lissencephaly type 1 due to doublecortin gene mutation 'Lissencephaly type 1 due to doublecortin gene mutation' SubClassOf 'X-linked syndromic intellectual disability' 'Lissencephaly type 1 due to doublecortin gene mutation' SubClassOf 'Subcortical band heterotopia' 'Lissencephaly type 1 due to doublecortin gene mutation' SubClassOf 'Classic lissencephaly' 'Lissencephaly type 1 due to doublecortin gene mutation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 'Lissencephaly type 1 due to doublecortin gene mutation' SubClassOf 'Classic lissencephaly' http://purl.obolibrary.org/obo/MONDO_0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 'hemolytic uremic syndrome, atypical, susceptibility to, 1' SubClassOf 'predisposes towards' some 'Atypical hemolytic-uremic syndrome' 'hemolytic uremic syndrome, atypical, susceptibility to, 1' SubClassOf 'predisposes towards' some http://purl.obolibrary.org/obo/MONDO_0016244 http://purl.obolibrary.org/obo/MONDO_0012988 hypogonadotropic hypogonadism 6 with or without anosmia 'hypogonadotropic hypogonadism 6 with or without anosmia' SubClassOf 'Kallmann syndrome' 'hypogonadotropic hypogonadism 6 with or without anosmia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018800 http://purl.obolibrary.org/obo/MONDO_0009348 classic Hodgkin lymphoma 'classic Hodgkin lymphoma' SubClassOf 'Hodgkins lymphoma' 'classic Hodgkin lymphoma' SubClassOf 'Hodgkins lymphoma' http://purl.obolibrary.org/obo/MONDO_0009346 histidinuria due to a renal tubular defect 'histidinuria due to a renal tubular defect' EquivalentTo 'Histidinemia' and ('disease arises from feature' some 'renal tubule disease') 'histidinuria due to a renal tubular defect' SubClassOf 'Histidinemia' 'histidinuria due to a renal tubular defect' SubClassOf http://purl.obolibrary.org/obo/MONDO_0009345 'histidinuria due to a renal tubular defect' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0009345 and ('disease arises from feature' some 'renal tubule disease') 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 'animal disease' 'parasitic disease, non-human animal' SubClassOf 'parasitic infection' http://purl.obolibrary.org/obo/MONDO_0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome 'multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015620 'multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019721 http://www.orpha.net/ORDO/Orphanet_97593 Pseudohypoparathyroidism 'Pseudohypoparathyroidism' SubClassOf 'inborn metal metabolism disorder' 'Pseudohypoparathyroidism' SubClassOf 'Genetic renal tubular disease' 'Pseudohypoparathyroidism' SubClassOf 'Developmental anomaly of metabolic origin' 'Pseudohypoparathyroidism' SubClassOf 'Genetic hypoparathyroidism' 'Pseudohypoparathyroidism' SubClassOf 'Genetic renal tubular disease' 'Pseudohypoparathyroidism' SubClassOf 'Developmental anomaly of metabolic origin' 'Pseudohypoparathyroidism' SubClassOf 'Genetic hypoparathyroidism' http://purl.obolibrary.org/obo/MONDO_0036976 benign epithelial neoplasm 'benign epithelial neoplasm' SubClassOf 'epithelial neoplasm' 'benign epithelial neoplasm' SubClassOf 'epithelial neoplasm' http://www.orpha.net/ORDO/Orphanet_2101 Grubben-de Cock-Borghgraef syndrome 'Grubben-de Cock-Borghgraef syndrome' SubClassOf 'has modifier' some 'rare' 'Grubben-de Cock-Borghgraef syndrome' SubClassOf 'syndromic intellectual disability' 'Grubben-de Cock-Borghgraef syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Grubben-de Cock-Borghgraef syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2108 Hallermann-Streiff syndrome 'Hallermann-Streiff syndrome' SubClassOf 'genetic disorder' 'Hallermann-Streiff syndrome' SubClassOf 'Premature aging' 'Hallermann-Streiff syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_262206 Partial duplication of chromosome 4 'Partial duplication of chromosome 4' SubClassOf 'chromosome 4 disorder' 'Partial duplication of chromosome 4' SubClassOf 'Partial autosomal trisomy/tetrasomy' 'Partial duplication of chromosome 4' SubClassOf 'syndrome caused by partial chromosomal duplication' 'Partial duplication of chromosome 4' SubClassOf 'Partial autosomal trisomy/tetrasomy' http://www.orpha.net/ORDO/Orphanet_2107 Hall-Riggs syndrome 'Hall-Riggs syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Hall-Riggs syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Hall-Riggs syndrome' SubClassOf 'congenital nervous system disorder' 'Hall-Riggs syndrome' SubClassOf 'syndromic intellectual disability' 'Hall-Riggs syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2102 GTP cyclohydrolase I deficiency 'GTP cyclohydrolase I deficiency' SubClassOf 'tetrahydrobiopterin metabolic process disease' 'GTP cyclohydrolase I deficiency' SubClassOf 'Hyperphenylalaninemia' 'GTP cyclohydrolase I deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_262211 Partial trisomy/tetrasomy of chromosome 5 'Partial trisomy/tetrasomy of chromosome 5' SubClassOf 'chromosome 5 disorder' 'Partial trisomy/tetrasomy of chromosome 5' SubClassOf 'Partial autosomal trisomy/tetrasomy' 'Partial trisomy/tetrasomy of chromosome 5' SubClassOf 'syndrome caused by partial chromosomal duplication' 'Partial trisomy/tetrasomy of chromosome 5' SubClassOf 'Partial autosomal trisomy/tetrasomy' http://www.orpha.net/ORDO/Orphanet_166472 Monogenic disease with epilepsy 'Monogenic disease with epilepsy' SubClassOf 'Motor stereotypies' 'Monogenic disease with epilepsy' SubClassOf 'epilepsy' http://www.orpha.net/ORDO/Orphanet_308487 Generalized galactose epimerase deficiency 'Generalized galactose epimerase deficiency' SubClassOf 'Galactose epimerase deficiency' 'Generalized galactose epimerase deficiency' SubClassOf 'Galactose epimerase deficiency' http://www.ebi.ac.uk/efo/EFO_1001158 retinopathy of prematurity 'retinopathy of prematurity' SubClassOf 'retinopathy' 'retinopathy of prematurity' SubClassOf 'retinopathy' http://purl.obolibrary.org/obo/MONDO_0009384 Leydig cell hypoplasia, type 1 'Leydig cell hypoplasia, type 1' SubClassOf 'Leydig cell hypoplasia' 'Leydig cell hypoplasia, type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019155 'Leydig cell hypoplasia, type 1' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_178461 X-linked myopathy with postural muscle atrophy 'X-linked myopathy with postural muscle atrophy' SubClassOf 'Emery-Dreifuss muscular dystrophy' 'X-linked myopathy with postural muscle atrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_178464 Hereditary proximal myopathy with early respiratory failure 'Hereditary proximal myopathy with early respiratory failure' SubClassOf 'TTN-related myopathy' 'Hereditary proximal myopathy with early respiratory failure' SubClassOf 'Autosomal dominant distal myopathy' 'Hereditary proximal myopathy with early respiratory failure' SubClassOf 'Progressive muscular dystrophy' 'Hereditary proximal myopathy with early respiratory failure' SubClassOf 'Inclusion myopathy' 'Hereditary proximal myopathy with early respiratory failure' SubClassOf 'Qualitative or quantitative defects of titin' 'Hereditary proximal myopathy with early respiratory failure' SubClassOf 'Progressive muscular dystrophy' 'Hereditary proximal myopathy with early respiratory failure' SubClassOf 'Inclusion myopathy' http://www.orpha.net/ORDO/Orphanet_178469 Autosomal dominant non-syndromic intellectual disability 'Autosomal dominant non-syndromic intellectual disability' SubClassOf 'non-syndromic intellectual disability' 'Autosomal dominant non-syndromic intellectual disability' SubClassOf 'intellectual disability, autosomal dominant' http://www.orpha.net/ORDO/Orphanet_166463 Epilepsy syndrome 'Epilepsy syndrome' SubClassOf 'has modifier' some 'rare' 'Epilepsy syndrome' SubClassOf 'epilepsy' http://www.ebi.ac.uk/efo/EFO_1001167 scimitar syndrome 'scimitar syndrome' SubClassOf 'congenital anomaly of the great arteries' 'scimitar syndrome' SubClassOf 'syndromic disease' 'scimitar syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020292 'scimitar syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_1001171 sebaceous adenocarcinoma 'sebaceous adenocarcinoma' SubClassOf 'adenocarcinoma' 'sebaceous adenocarcinoma' SubClassOf 'adenocarcinoma' http://www.orpha.net/ORDO/Orphanet_308463 Disorder of fructose metabolism 'Disorder of fructose metabolism' SubClassOf 'Disorder of carbohydrate metabolism' 'Disorder of fructose metabolism' SubClassOf 'Disorder of carbohydrate metabolism' http://www.orpha.net/ORDO/Orphanet_308467 Disorder of galactose metabolism 'Disorder of galactose metabolism' SubClassOf 'Disorder of carbohydrate metabolism' 'Disorder of galactose metabolism' SubClassOf 'Disorder of carbohydrate metabolism' http://www.ebi.ac.uk/efo/EFO_1001183 skin appendage carcinoma 'skin appendage carcinoma' SubClassOf 'skin carcinoma' 'skin appendage carcinoma' SubClassOf 'skin carcinoma' http://www.orpha.net/ORDO/Orphanet_308473 Erythrocyte galactose epimerase deficiency 'Erythrocyte galactose epimerase deficiency' SubClassOf 'Galactose epimerase deficiency' 'Erythrocyte galactose epimerase deficiency' SubClassOf 'Galactose epimerase deficiency' http://www.ebi.ac.uk/efo/EFO_1001189 spermatocele 'spermatocele' SubClassOf 'male reproductive system disease' 'spermatocele' SubClassOf 'male reproductive system disease' http://www.ebi.ac.uk/efo/EFO_1001186 Sneddon syndrome 'Sneddon syndrome' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'Sneddon syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015953 http://www.ebi.ac.uk/efo/EFO_1001195 subclavian steal syndrome 'subclavian steal syndrome' SubClassOf 'syndromic disease' 'subclavian steal syndrome' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_308442 Vitamin B12-responsive methylmalonic acidemia, type cblDv2 'Vitamin B12-responsive methylmalonic acidemia, type cblDv2' SubClassOf 'Vitamin B12-responsive methylmalonic acidemia' 'Vitamin B12-responsive methylmalonic acidemia, type cblDv2' SubClassOf 'Vitamin B12-responsive methylmalonic acidemia' http://www.ebi.ac.uk/efo/EFO_1001190 splenic infarction 'splenic infarction' SubClassOf 'splenic disease' 'splenic infarction' SubClassOf 'splenic disease' http://www.orpha.net/ORDO/Orphanet_308448 Aminoacylase deficiency 'Aminoacylase deficiency' SubClassOf 'Cerebral organic aciduria' 'Aminoacylase deficiency' SubClassOf 'Cerebral organic aciduria' http://www.orpha.net/ORDO/Orphanet_308451 Disorder of neutral amino acid transport 'Disorder of neutral amino acid transport' SubClassOf 'Disorder of amino acid absorption and transport' 'Disorder of neutral amino acid transport' SubClassOf 'Disorder of amino acid absorption and transport' http://www.orpha.net/ORDO/Orphanet_308459 Disorder of glycolysis 'Disorder of glycolysis' SubClassOf 'Pyruvate metabolism disorder' 'Disorder of glycolysis' SubClassOf 'Disorder of carbohydrate metabolism' 'Disorder of glycolysis' SubClassOf 'Disorder of purine or pyrimidine metabolism' 'Disorder of glycolysis' SubClassOf 'Disorder of carbohydrate metabolism' http://www.orpha.net/ORDO/Orphanet_308425 Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency 'Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency' SubClassOf 'methylmalonic acidemia' http://www.orpha.net/ORDO/Orphanet_178400 Distal myopathy with anterior tibial onset 'Distal myopathy with anterior tibial onset' SubClassOf 'Autosomal recessive distal myopathy' 'Distal myopathy with anterior tibial onset' SubClassOf 'Qualitative or quantitative defects of dysferlin' 'Distal myopathy with anterior tibial onset' SubClassOf 'Autosomal recessive distal myopathy' 'Distal myopathy with anterior tibial onset' SubClassOf 'Qualitative or quantitative defects of dysferlin' http://www.orpha.net/ORDO/Orphanet_189 Hidrotic ectodermal dysplasia 'Hidrotic ectodermal dysplasia' SubClassOf 'Ectodermal dysplasia syndrome' 'Hidrotic ectodermal dysplasia' SubClassOf 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' 'Hidrotic ectodermal dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_187 Citrullinemia 'Citrullinemia' SubClassOf 'urea cycle disorder' http://www.orpha.net/ORDO/Orphanet_36899 Myoclonus-dystonia syndrome 'Myoclonus-dystonia syndrome' SubClassOf 'Primary myoclonus' 'Myoclonus-dystonia syndrome' SubClassOf 'Persistent combined dystonia' 'Myoclonus-dystonia syndrome' SubClassOf 'Persistent combined dystonia' 'Myoclonus-dystonia syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017651 http://www.orpha.net/ORDO/Orphanet_184 Cherubism 'Cherubism' SubClassOf 'autoinflammatory syndrome' 'Cherubism' SubClassOf 'Inherited cancer-predisposing syndrome' 'Cherubism' SubClassOf 'Primary immunodeficiency due to a defect in innate immunity' 'Cherubism' SubClassOf 'hereditary disorder of connective tissue' 'Cherubism' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Cherubism' SubClassOf 'autosomal dominant disease' 'Cherubism' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_181 X-linked hypohidrotic ectodermal dysplasia 'X-linked hypohidrotic ectodermal dysplasia' SubClassOf 'Hypohidrotic ectodermal dysplasia' 'X-linked hypohidrotic ectodermal dysplasia' SubClassOf 'X-linked disease' 'X-linked hypohidrotic ectodermal dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_180 Choroideremia 'Choroideremia' SubClassOf 'optic choroid disorder' 'Choroideremia' SubClassOf 'neurovascular disorder' 'Choroideremia' SubClassOf 'X-linked disease' http://www.orpha.net/ORDO/Orphanet_357027 Familial retinoblastoma 'Familial retinoblastoma' EquivalentTo 'Retinoblastoma' and ('has modifier' some 'inherited') 'Familial retinoblastoma' SubClassOf 'Rare genetic neurological disorder' 'Familial retinoblastoma' SubClassOf 'Retinoblastoma' 'Familial retinoblastoma' SubClassOf 'Inherited cancer-predisposing syndrome' 'Familial retinoblastoma' SubClassOf 'Retinoblastoma' 'Familial retinoblastoma' SubClassOf 'Inherited cancer-predisposing syndrome' 'Familial retinoblastoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.orpha.net/ORDO/Orphanet_199 Cornelia de Lange syndrome 'Cornelia de Lange syndrome' SubClassOf 'Ptosis' 'Cornelia de Lange syndrome' SubClassOf 'congenital nervous system disorder' 'Cornelia de Lange syndrome' SubClassOf 'syndromic intellectual disability' 'Cornelia de Lange syndrome' SubClassOf 'Syndrome with a symptomatic strabismus' 'Cornelia de Lange syndrome' SubClassOf 'Syndrome associated with Pierre Robin syndrome' 'Cornelia de Lange syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' 'Cornelia de Lange syndrome' SubClassOf 'Eyebrow hypertrophy' 'Cornelia de Lange syndrome' SubClassOf 'congenital limb malformation' 'Cornelia de Lange syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Cornelia de Lange syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Cornelia de Lange syndrome' SubClassOf 'Dysostosis of genetic origin' 'Cornelia de Lange syndrome' SubClassOf 'syndromic diaphragmatic or abdominal wall malformation' 'Cornelia de Lange syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'Cornelia de Lange syndrome' SubClassOf 'syndromic diaphragmatic or thoracic malformation' 'Cornelia de Lange syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_198 Occipital horn syndrome 'Occipital horn syndrome' SubClassOf 'Disorder of copper metabolism' 'Occipital horn syndrome' SubClassOf 'inherited cutis laxa' 'Occipital horn syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Occipital horn syndrome' SubClassOf 'Developmental anomaly of metabolic origin' 'Occipital horn syndrome' SubClassOf 'Disorder of copper metabolism' http://www.orpha.net/ORDO/Orphanet_195 Cat-eye syndrome 'Cat-eye syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'Cat-eye syndrome' SubClassOf 'Complex chromosomal rearrangement' 'Cat-eye syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Cat-eye syndrome' SubClassOf 'Syndromic anorectal malformation' 'Cat-eye syndrome' SubClassOf 'Complex chromosomal rearrangement' 'Cat-eye syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Cat-eye syndrome' SubClassOf 'Syndromic anorectal malformation' http://www.orpha.net/ORDO/Orphanet_194 Ocular coloboma 'Ocular coloboma' SubClassOf 'Rare eye disease due to a differentiation anomaly' 'Ocular coloboma' SubClassOf 'Non-syndromic developmental defect of the eye' 'Ocular coloboma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_193 Cohen syndrome 'Cohen syndrome' SubClassOf 'Constitutional neutropenia' 'Cohen syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Cohen syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Cohen syndrome' SubClassOf 'congenital nervous system disorder' 'Cohen syndrome' SubClassOf 'Syndromic obesity' 'Cohen syndrome' SubClassOf 'Constitutional neutropenia with extra-haematopoietic manifestations' 'Cohen syndrome' SubClassOf 'syndromic intellectual disability' 'Cohen syndrome' SubClassOf 'Syndromic retinitis pigmentosa' 'Cohen syndrome' SubClassOf 'Syndromic myopia' 'Cohen syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_192 Coffin-Lowry syndrome 'Coffin-Lowry syndrome' SubClassOf 'scoliosis' 'Coffin-Lowry syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Coffin-Lowry syndrome' SubClassOf 'Syndromic obesity' 'Coffin-Lowry syndrome' SubClassOf 'epilepsy' 'Coffin-Lowry syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_191 Cockayne syndrome 'Cockayne syndrome' SubClassOf 'DNA repair deficiency' 'Cockayne syndrome' SubClassOf 'syndromic intellectual disability' 'Cockayne syndrome' SubClassOf 'Genetic progeroid syndrome' 'Cockayne syndrome' SubClassOf 'Genetic neurodegenerative disease' 'Cockayne syndrome' SubClassOf 'Developmental anomaly of metabolic origin' 'Cockayne syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Cockayne syndrome' SubClassOf 'autosomal recessive disease' 'Cockayne syndrome' SubClassOf 'Syndromic retinitis pigmentosa' 'Cockayne syndrome' SubClassOf 'Genetic photodermatosis' 'Cockayne syndrome' SubClassOf 'Syndromic genetic deafness' 'Cockayne syndrome' SubClassOf 'eye degenerative disorder' 'Cockayne syndrome' SubClassOf 'progeroid syndrome' 'Cockayne syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Cockayne syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Cockayne syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_190 Coats disease 'Coats disease' SubClassOf 'retinal telangiectasia' 'Coats disease' SubClassOf 'Congenital vitreoretinal dysplasia' 'Coats disease' SubClassOf 'Secondary glaucoma due to a proliferation and differentiation anomaly' 'Coats disease' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'Coats disease' SubClassOf 'Secondary dysgenetic glaucoma' 'Coats disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_357034 Unilateral retinoblastoma 'Unilateral retinoblastoma' SubClassOf 'Retinoblastoma' 'Unilateral retinoblastoma' SubClassOf 'Retinoblastoma' http://www.orpha.net/ORDO/Orphanet_370006 Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies 'Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies' SubClassOf 'Syndromic renal or urinary tract malformation' 'Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies' SubClassOf 'Syndrome with microcephaly as major feature' 'Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies' SubClassOf 'Disease associated with non-acquired combined pituitary hormone deficiency' 'Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome 'Intellectual disability-facial dysmorphism-hand anomalies syndrome' SubClassOf 'syndromic intellectual disability' 'Intellectual disability-facial dysmorphism-hand anomalies syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Intellectual disability-facial dysmorphism-hand anomalies syndrome' SubClassOf 'congenital nervous system disorder' 'Intellectual disability-facial dysmorphism-hand anomalies syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_370015 Spondyloepimetaphyseal dysplasia, Isidor type 'Spondyloepimetaphyseal dysplasia, Isidor type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepimetaphyseal dysplasia, Isidor type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_357043 Amyotrophic lateral sclerosis type 4 'Amyotrophic lateral sclerosis type 4' SubClassOf 'familial amyotrophic lateral sclerosis' 'Amyotrophic lateral sclerosis type 4' SubClassOf 'Genetic neurodegenerative disease' 'Amyotrophic lateral sclerosis type 4' SubClassOf 'familial amyotrophic lateral sclerosis' 'Amyotrophic lateral sclerosis type 4' SubClassOf 'Genetic motor neuron disease' http://www.orpha.net/ORDO/Orphanet_370002 Focal palmoplantar keratoderma with joint keratoses 'Focal palmoplantar keratoderma with joint keratoses' SubClassOf 'Isolated focal palmoplantar keratoderma' 'Focal palmoplantar keratoderma with joint keratoses' SubClassOf 'Isolated focal palmoplantar keratoderma' http://www.orpha.net/ORDO/Orphanet_357058 Autosomal recessive cutis laxa type 2A 'Autosomal recessive cutis laxa type 2A' SubClassOf 'Autosomal recessive cutis laxa type 2' 'Autosomal recessive cutis laxa type 2A' SubClassOf 'Cerebral organic aciduria' 'Autosomal recessive cutis laxa type 2A' SubClassOf 'Defect in V-ATPase' 'Autosomal recessive cutis laxa type 2A' SubClassOf 'Congenital disorder of glycosylation-related bone disorder' 'Autosomal recessive cutis laxa type 2A' SubClassOf 'congenital nervous system disorder' 'Autosomal recessive cutis laxa type 2A' SubClassOf 'Autosomal recessive cutis laxa type 2' 'Autosomal recessive cutis laxa type 2A' SubClassOf 'Defect in V-ATPase' 'Autosomal recessive cutis laxa type 2A' SubClassOf 'Congenital disorder of glycosylation-related bone disorder' http://www.orpha.net/ORDO/Orphanet_71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency 'Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency' SubClassOf 'Diazoxide-sensitive diffuse hyperinsulinism' 'Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency' SubClassOf 'Cerebral organic aciduria' 'Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency' SubClassOf '3-hydroxyacyl-CoA dehydrogenase deficiency' 'Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency' SubClassOf 'Neurometabolic disease' 'Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017715 'Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency' SubClassOf 'Diazoxide-sensitive diffuse hyperinsulinism' 'Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency' SubClassOf 'Neurometabolic disease' http://www.orpha.net/ORDO/Orphanet_71213 Retinal cavernous hemangioma 'Retinal cavernous hemangioma' SubClassOf 'Congenital vitreoretinal dysplasia' 'Retinal cavernous hemangioma' SubClassOf 'Genetic neurovascular malformation' 'Retinal cavernous hemangioma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_370034 Familial syringomyelia 'Familial syringomyelia' SubClassOf 'Malformation of the neurenteric canal, spinal cord and column' 'Familial syringomyelia' EquivalentTo 'syringomyelia' and ('has modifier' some 'inherited') 'Familial syringomyelia' SubClassOf 'syringomyelia' 'Familial syringomyelia' SubClassOf 'Primary syringomyelia' 'Familial syringomyelia' SubClassOf 'Primary syringomyelia' http://www.orpha.net/ORDO/Orphanet_357064 Autosomal recessive cutis laxa type 2B 'Autosomal recessive cutis laxa type 2B' SubClassOf 'Autosomal recessive cutis laxa type 2' 'Autosomal recessive cutis laxa type 2B' SubClassOf 'Autosomal recessive cutis laxa type 2' http://www.orpha.net/ORDO/Orphanet_370019 Spondylometaphyseal dysplasia, Czarny-Ratajczak type 'Spondylometaphyseal dysplasia, Czarny-Ratajczak type' SubClassOf 'Spondylometaphyseal dysplasia' 'Spondylometaphyseal dysplasia, Czarny-Ratajczak type' SubClassOf 'Spondylometaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome 'Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome' SubClassOf 'syndromic intellectual disability' 'Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome' SubClassOf 'central nervous system malformation' 'Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' http://www.orpha.net/ORDO/Orphanet_357074 Autosomal recessive cutis laxa type 2, classic type 'Autosomal recessive cutis laxa type 2, classic type' SubClassOf 'Autosomal recessive cutis laxa type 2A' 'Autosomal recessive cutis laxa type 2, classic type' SubClassOf 'Autosomal recessive cutis laxa type 2A' http://www.orpha.net/ORDO/Orphanet_107 BOR syndrome 'BOR syndrome' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'BOR syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'BOR syndrome' SubClassOf 'autosomal dominant disease' 'BOR syndrome' SubClassOf 'congenital nervous system disorder' 'BOR syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'BOR syndrome' SubClassOf 'Syndromic genetic deafness' 'BOR syndrome' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'BOR syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'BOR syndrome' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_105 Atresia of urethra 'Atresia of urethra' SubClassOf 'fetal lower urinary tract obstruction' http://www.orpha.net/ORDO/Orphanet_104 Leber hereditary optic neuropathy 'Leber hereditary optic neuropathy' SubClassOf 'Mitochondrial disease with eye involvement' 'Leber hereditary optic neuropathy' SubClassOf 'eye degenerative disorder' 'Leber hereditary optic neuropathy' SubClassOf 'Optic neuropathy' 'Leber hereditary optic neuropathy' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' 'Leber hereditary optic neuropathy' SubClassOf 'Mitochondrial disease with dilated cardiomyopathy' 'Leber hereditary optic neuropathy' SubClassOf 'hereditary optic atrophy' 'Leber hereditary optic neuropathy' SubClassOf 'Mitochondrial disease with hypertrophic cardiomyopathy' 'Leber hereditary optic neuropathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_103 Genetic optic atrophy 'Genetic optic atrophy' SubClassOf 'Optic neuropathy' 'Genetic optic atrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_101 Dentatorubral pallidoluysian atrophy 'Dentatorubral pallidoluysian atrophy' SubClassOf 'Autosomal dominant cerebellar ataxia type 4' 'Dentatorubral pallidoluysian atrophy' SubClassOf 'Huntington disease-like syndrome' 'Dentatorubral pallidoluysian atrophy' SubClassOf 'Autosomal dominant cerebellar ataxia type 4' 'Dentatorubral pallidoluysian atrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015548 http://www.orpha.net/ORDO/Orphanet_100 Ataxia-telangiectasia 'Ataxia-telangiectasia' SubClassOf 'Combined T and B cell immunodeficiency' 'Ataxia-telangiectasia' SubClassOf 'genetic skin disease' 'Ataxia-telangiectasia' SubClassOf 'Non-acquired premature ovarian failure' 'Ataxia-telangiectasia' SubClassOf 'inherited nervous system cancer-predisposing syndrome' 'Ataxia-telangiectasia' SubClassOf 'skin vascular disease' 'Ataxia-telangiectasia' SubClassOf 'neurocutaneous syndrome' 'Ataxia-telangiectasia' SubClassOf 'neurovascular disorder' 'Ataxia-telangiectasia' SubClassOf 'Non-acquired premature ovarian failure' http://www.orpha.net/ORDO/Orphanet_95232 Lissencephaly due to LIS1 mutation 'Lissencephaly due to LIS1 mutation' SubClassOf 'Classic lissencephaly' 'Lissencephaly due to LIS1 mutation' SubClassOf 'Classic lissencephaly' http://www.orpha.net/ORDO/Orphanet_118 Beta-mannosidosis 'Beta-mannosidosis' SubClassOf 'Oligosaccharidosis' 'Beta-mannosidosis' SubClassOf 'Genetic peripheral neuropathy' 'Beta-mannosidosis' SubClassOf 'Oligosaccharidosis' http://www.orpha.net/ORDO/Orphanet_116 Beckwith-Wiedemann syndrome 'Beckwith-Wiedemann syndrome' SubClassOf 'Inherited renal cancer-predisposing syndrome' 'Beckwith-Wiedemann syndrome' SubClassOf 'Genetic renal tumor' 'Beckwith-Wiedemann syndrome' SubClassOf 'Overgrowth syndrome' 'Beckwith-Wiedemann syndrome' SubClassOf 'familial hypertrophic cardiomyopathy' 'Beckwith-Wiedemann syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_115 Congenital contractural arachnodactyly 'Congenital contractural arachnodactyly' SubClassOf 'Marfan and Marfan-related disorder' 'Congenital contractural arachnodactyly' SubClassOf 'Distal arthrogryposis' 'Congenital contractural arachnodactyly' SubClassOf 'congenital nervous system disorder' 'Congenital contractural arachnodactyly' SubClassOf 'arthrogryposis' 'Congenital contractural arachnodactyly' SubClassOf 'Distal arthrogryposis' 'Congenital contractural arachnodactyly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017310 http://www.orpha.net/ORDO/Orphanet_114 Auriculoosteodysplasia 'Auriculoosteodysplasia' SubClassOf 'musculoskeletal system disease' http://www.orpha.net/ORDO/Orphanet_113 Bazex-Dupré-Christol syndrome 'Bazex-Dupré-Christol syndrome' SubClassOf 'skin disease' 'Bazex-Dupré-Christol syndrome' SubClassOf 'Rare genetic neurological disorder' 'Bazex-Dupré-Christol syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.orpha.net/ORDO/Orphanet_112 Bartter syndrome 'Bartter syndrome' SubClassOf 'Genetic renal tubular disease' 'Bartter syndrome' SubClassOf 'syndromic disease' 'Bartter syndrome' SubClassOf 'renal tubular transport disease' 'Bartter syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_111 Barth syndrome 'Barth syndrome' SubClassOf 'Mitochondrial disease with eye involvement' 'Barth syndrome' SubClassOf 'Rare syndromic dyslipidemia' 'Barth syndrome' SubClassOf 'Constitutional neutropenia with extra-haematopoietic manifestations' 'Barth syndrome' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement' 'Barth syndrome' SubClassOf 'Constitutional neutropenia' 'Barth syndrome' SubClassOf '3-methylglutaconic aciduria' 'Barth syndrome' SubClassOf 'Mitochondrial myopathy' 'Barth syndrome' SubClassOf 'Mitochondrial disease with dilated cardiomyopathy' 'Barth syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_110 Bardet-Biedl syndrome 'Bardet-Biedl syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Bardet-Biedl syndrome' SubClassOf 'intestinal motility disease' 'Bardet-Biedl syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Bardet-Biedl syndrome' SubClassOf 'has_disease_location' some 'cilium' 'Bardet-Biedl syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Bardet-Biedl syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'Bardet-Biedl syndrome' SubClassOf 'Rare disorder with hypogonadotropic hypogonadism' 'Bardet-Biedl syndrome' SubClassOf 'autosomal recessive disease' 'Bardet-Biedl syndrome' SubClassOf 'Congenital hypogonadotropic hypogonadism' 'Bardet-Biedl syndrome' SubClassOf 'Syndromic obesity' 'Bardet-Biedl syndrome' SubClassOf 'retinal ciliopathy' 'Bardet-Biedl syndrome' SubClassOf 'Familial cystic renal disease' 'Bardet-Biedl syndrome' SubClassOf 'nephropathy-associated ciliopathy' 'Bardet-Biedl syndrome' SubClassOf 'Syndromic retinitis pigmentosa' 'Bardet-Biedl syndrome' SubClassOf 'Unclassified primitive or secondary maculopathy' 'Bardet-Biedl syndrome' SubClassOf 'peripheral nervous system disease' 'Bardet-Biedl syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' 'Bardet-Biedl syndrome' SubClassOf 'Syndromic intestinal malformation' 'Bardet-Biedl syndrome' SubClassOf 'Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism' 'Bardet-Biedl syndrome' SubClassOf 'has_disease_location' some 'main ciliary ganglion' 'Bardet-Biedl syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_109 Bannayan-Riley-Ruvalcaba syndrome 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'congenital nervous system disorder' 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'neurovascular disorder' 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'Genetic vascular anomaly' 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'Overgrowth syndrome' 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'intellectual disability, autosomal dominant' 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'intestinal polyposis syndrome' 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'syndromic intellectual disability' 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'PTEN hamartoma tumor syndrome' 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'Genetic intestinal polyposis' 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_127 Borjeson-Forssman-Lehmann syndrome 'Borjeson-Forssman-Lehmann syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Borjeson-Forssman-Lehmann syndrome' SubClassOf 'Eyelids malposition disorder' 'Borjeson-Forssman-Lehmann syndrome' SubClassOf 'Ptosis' 'Borjeson-Forssman-Lehmann syndrome' SubClassOf 'congenital nervous system disorder' 'Borjeson-Forssman-Lehmann syndrome' SubClassOf 'Syndromic obesity' 'Borjeson-Forssman-Lehmann syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Borjeson-Forssman-Lehmann syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_126 Blepharophimosis - epicanthus inversus - ptosis 'Blepharophimosis - epicanthus inversus - ptosis' SubClassOf 'Secondary ectropion' 'Blepharophimosis - epicanthus inversus - ptosis' SubClassOf 'autosomal dominant disease' 'Blepharophimosis - epicanthus inversus - ptosis' SubClassOf 'Non-acquired premature ovarian failure' 'Blepharophimosis - epicanthus inversus - ptosis' SubClassOf 'Telecanthus' 'Blepharophimosis - epicanthus inversus - ptosis' SubClassOf 'Secondary ectropion' 'Blepharophimosis - epicanthus inversus - ptosis' SubClassOf 'Non-acquired premature ovarian failure' 'Blepharophimosis - epicanthus inversus - ptosis' SubClassOf 'Telecanthus' http://www.orpha.net/ORDO/Orphanet_125 Bloom syndrome 'Bloom syndrome' SubClassOf 'autosomal recessive disease' 'Bloom syndrome' SubClassOf 'Genetic skin tumor' 'Bloom syndrome' SubClassOf 'Ectodermal malformation syndrome associated with ocular features' 'Bloom syndrome' SubClassOf 'disorder of development or morphogenesis' 'Bloom syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Bloom syndrome' SubClassOf 'microcephaly, growth restriction and increased sister chromatid exchange' 'Bloom syndrome' SubClassOf 'Genetic photodermatosis' 'Bloom syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'Bloom syndrome' SubClassOf 'DNA repair defect other than combined T-cell and B-cell immunodeficiencies' 'Bloom syndrome' SubClassOf 'Genetic tumor of hematopoietic and lymphoid tissues' 'Bloom syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_124 Blackfan-Diamond anemia 'Blackfan-Diamond anemia' SubClassOf 'pure red-cell aplasia' 'Blackfan-Diamond anemia' SubClassOf 'inherited aplastic anemia' 'Blackfan-Diamond anemia' SubClassOf 'inherited aplastic anemia' http://www.orpha.net/ORDO/Orphanet_123 Björnstad syndrome 'Björnstad syndrome' SubClassOf 'Isolated hair shaft abnormality' 'Björnstad syndrome' SubClassOf 'autosomal recessive disease' 'Björnstad syndrome' SubClassOf 'Isolated hair shaft abnormality' http://www.orpha.net/ORDO/Orphanet_122 Birt-Hogg-Dubé syndrome 'Birt-Hogg-Dubé syndrome' SubClassOf 'autosomal dominant disease' 'Birt-Hogg-Dubé syndrome' SubClassOf 'kidney neoplasm' 'Birt-Hogg-Dubé syndrome' SubClassOf 'Inherited renal cancer-predisposing syndrome' 'Birt-Hogg-Dubé syndrome' SubClassOf 'Genetic skin tumor' 'Birt-Hogg-Dubé syndrome' SubClassOf 'Genetic skin tumor' http://www.orpha.net/ORDO/Orphanet_119 Autosomal recessive limb-girdle muscular dystrophy type 2E 'Autosomal recessive limb-girdle muscular dystrophy type 2E' SubClassOf 'Qualitative or quantitative defects of beta-sarcoglycan' 'Autosomal recessive limb-girdle muscular dystrophy type 2E' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2E' SubClassOf 'Qualitative or quantitative defects of beta-sarcoglycan' 'Autosomal recessive limb-girdle muscular dystrophy type 2E' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' http://www.orpha.net/ORDO/Orphanet_139 CHILD syndrome 'CHILD syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'CHILD syndrome' SubClassOf 'melanocytic nevus' 'CHILD syndrome' SubClassOf 'bone benign neoplasm' 'CHILD syndrome' SubClassOf 'hereditary disorder of connective tissue' 'CHILD syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'CHILD syndrome' SubClassOf 'X-linked dominant chondrodysplasia punctata' 'CHILD syndrome' SubClassOf 'X-linked ichthyosis syndrome' 'CHILD syndrome' SubClassOf 'Genetic skin tumor' 'CHILD syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_138 CHARGE syndrome 'CHARGE syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'CHARGE syndrome' SubClassOf 'Rare disorder with hypogonadotropic hypogonadism' 'CHARGE syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'CHARGE syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'CHARGE syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'CHARGE syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'CHARGE syndrome' SubClassOf 'Rare syndrome with cardiac malformations' 'CHARGE syndrome' SubClassOf 'Congenital hypogonadotropic hypogonadism' 'CHARGE syndrome' SubClassOf 'neurocristopathy' 'CHARGE syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' 'CHARGE syndrome' SubClassOf 'Primary immunodeficiency due to a defect in adaptive immunity' 'CHARGE syndrome' SubClassOf 'heart disease' 'CHARGE syndrome' SubClassOf 'Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism' 'CHARGE syndrome' SubClassOf 'Syndromic genetic deafness' 'CHARGE syndrome' SubClassOf 'Lens shape anomaly' 'CHARGE syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation 'Congenital disorder of glycosylation' SubClassOf 'Inborn errors of metabolism' 'Congenital disorder of glycosylation' SubClassOf 'disorder of glycosylation' 'Congenital disorder of glycosylation' SubClassOf 'has modifier' some 'congenital' 'Congenital disorder of glycosylation' SubClassOf 'Inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_136 CADASIL 'CADASIL' SubClassOf 'syndromic disease' 'CADASIL' SubClassOf 'Genetic neuro-ophthalmological disease' 'CADASIL' SubClassOf 'Nervous system anomaly with eye involvement' 'CADASIL' SubClassOf 'cerebral small vessel disease' 'CADASIL' SubClassOf 'Genetic cerebrovascular dementia' 'CADASIL' SubClassOf 'Genetic dementia' 'CADASIL' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015368 'CADASIL' SubClassOf 'mental or behavioural disorder' 'CADASIL' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'CADASIL' SubClassOf 'Genetic cerebrovascular dementia' http://www.orpha.net/ORDO/Orphanet_135 CACH syndrome 'CACH syndrome' SubClassOf 'Leukodystrophy' 'CACH syndrome' SubClassOf 'Leukodystrophy' http://www.orpha.net/ORDO/Orphanet_134 Ketoacidosis due to beta-ketothiolase deficiency 'Ketoacidosis due to beta-ketothiolase deficiency' SubClassOf 'Classic organic aciduria' 'Ketoacidosis due to beta-ketothiolase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_132 Butyrylcholinesterase deficiency 'Butyrylcholinesterase deficiency' SubClassOf 'Metabolic disease involving other neurotransmitter deficiency' 'Butyrylcholinesterase deficiency' SubClassOf 'Metabolic disease involving other neurotransmitter deficiency' http://www.orpha.net/ORDO/Orphanet_130 Brugada syndrome 'Brugada syndrome' SubClassOf 'Genetic cardiac rhythm disease' 'Brugada syndrome' SubClassOf 'syndromic disease' 'Brugada syndrome' SubClassOf 'heart conduction disease' 'Brugada syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2398 Familial symmetric lipomatosis 'Familial symmetric lipomatosis' SubClassOf 'Genetic subcutaneous tissue disorder' 'Familial symmetric lipomatosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2396 Encephalocraniocutaneous lipomatosis 'Encephalocraniocutaneous lipomatosis' SubClassOf 'Genetic skin tumor' 'Encephalocraniocutaneous lipomatosis' SubClassOf 'benign neoplasm of skin' 'Encephalocraniocutaneous lipomatosis' SubClassOf 'lipomatosis' 'Encephalocraniocutaneous lipomatosis' SubClassOf 'subcutaneous tissue disorder' 'Encephalocraniocutaneous lipomatosis' SubClassOf 'hereditary disorder of connective tissue' 'Encephalocraniocutaneous lipomatosis' SubClassOf 'Genetic skin tumor' 'Encephalocraniocutaneous lipomatosis' SubClassOf 'benign neoplasm' http://www.orpha.net/ORDO/Orphanet_148 Multiple carboxylase deficiency 'Multiple carboxylase deficiency' SubClassOf 'Classic organic aciduria' 'Multiple carboxylase deficiency' SubClassOf 'has modifier' some 'rare' 'Multiple carboxylase deficiency' SubClassOf 'genetic skin disease' 'Multiple carboxylase deficiency' SubClassOf 'Disorder of carbohydrate metabolism' 'Multiple carboxylase deficiency' SubClassOf 'inborn error of biotin metabolism' 'Multiple carboxylase deficiency' SubClassOf 'Classic organic aciduria' http://www.orpha.net/ORDO/Orphanet_147 Carbamoyl-phosphate synthase deficiency 'Carbamoyl-phosphate synthase deficiency' SubClassOf 'Disorder of urea cycle metabolism and ammonia detoxification' 'Carbamoyl-phosphate synthase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2394 Pyruvate dehydrogenase E3 deficiency 'Pyruvate dehydrogenase E3 deficiency' SubClassOf 'Pyruvate dehydrogenase deficiency' 'Pyruvate dehydrogenase E3 deficiency' SubClassOf 'Lipoic acid biosynthesis defect' 'Pyruvate dehydrogenase E3 deficiency' SubClassOf 'Rare syndromic dyslipidemia' 'Pyruvate dehydrogenase E3 deficiency' SubClassOf 'Maple syrup urine disease' 'Pyruvate dehydrogenase E3 deficiency' SubClassOf 'Pyruvate dehydrogenase deficiency' 'Pyruvate dehydrogenase E3 deficiency' SubClassOf 'Lipoic acid biosynthesis defect' http://www.orpha.net/ORDO/Orphanet_145 Hereditary breast and ovarian cancer syndrome 'Hereditary breast and ovarian cancer syndrome' SubClassOf 'disease has feature' some 'female breast carcinoma' 'Hereditary breast and ovarian cancer syndrome' SubClassOf 'disease has feature' some 'ovarian carcinoma' 'Hereditary breast and ovarian cancer syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' 'Hereditary breast and ovarian cancer syndrome' SubClassOf 'autosomal dominant disease' 'Hereditary breast and ovarian cancer syndrome' SubClassOf 'inherited disease susceptibility' 'Hereditary breast and ovarian cancer syndrome' SubClassOf 'Hereditary breast cancer' 'Hereditary breast and ovarian cancer syndrome' SubClassOf 'Familial ovarian cancer' 'Hereditary breast and ovarian cancer syndrome' SubClassOf 'Hereditary breast cancer' 'Hereditary breast and ovarian cancer syndrome' SubClassOf 'Familial ovarian cancer' 'Hereditary breast and ovarian cancer syndrome' SubClassOf 'ovarian disease' http://www.orpha.net/ORDO/Orphanet_144 Lynch syndrome 'Lynch syndrome' SubClassOf 'autosomal dominant disease' 'Lynch syndrome' SubClassOf 'has_disease_location' some 'colon' 'Lynch syndrome' SubClassOf 'hereditary nonpolyposis colon cancer' 'Lynch syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_141 Canavan disease 'Canavan disease' SubClassOf 'Leukodystrophy' 'Canavan disease' SubClassOf 'Aminoacylase deficiency' 'Canavan disease' SubClassOf 'Neurometabolic disease' 'Canavan disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_140 Campomelic dysplasia 'Campomelic dysplasia' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Campomelic dysplasia' SubClassOf 'Bent bone dysplasia' 'Campomelic dysplasia' SubClassOf 'osteochondrodysplasia' 'Campomelic dysplasia' SubClassOf 'Bent bone dysplasia' http://www.orpha.net/ORDO/Orphanet_2399 Nasopalpebral lipoma - coloboma - telecanthus 'Nasopalpebral lipoma - coloboma - telecanthus' SubClassOf 'Syndromic developmental defect of the eye' 'Nasopalpebral lipoma - coloboma - telecanthus' SubClassOf 'Syndromic palpebral coloboma' 'Nasopalpebral lipoma - coloboma - telecanthus' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Nasopalpebral lipoma - coloboma - telecanthus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2390 Lichstenstein syndrome 'Lichstenstein syndrome' SubClassOf 'Constitutional neutropenia' http://www.orpha.net/ORDO/Orphanet_159 Carnitine-acylcarnitine translocase deficiency 'Carnitine-acylcarnitine translocase deficiency' SubClassOf 'Disorder of carnitine cycle and carnitine transport' 'Carnitine-acylcarnitine translocase deficiency' SubClassOf 'disorder of fatty acid oxidation and ketogenesis' 'Carnitine-acylcarnitine translocase deficiency' SubClassOf 'familial hypertrophic cardiomyopathy' 'Carnitine-acylcarnitine translocase deficiency' SubClassOf 'Disorder of carnitine cycle and carnitine transport' http://www.orpha.net/ORDO/Orphanet_158 Systemic primary carnitine deficiency 'Systemic primary carnitine deficiency' SubClassOf 'inherited amino acid metabolic disorder' 'Systemic primary carnitine deficiency' SubClassOf 'Muscular lipidosis' 'Systemic primary carnitine deficiency' SubClassOf 'Disorder of carnitine cycle and carnitine transport' 'Systemic primary carnitine deficiency' SubClassOf 'disorder of fatty acid oxidation and ketogenesis' 'Systemic primary carnitine deficiency' SubClassOf 'Muscular lipidosis' 'Systemic primary carnitine deficiency' SubClassOf 'Disorder of carnitine cycle and carnitine transport' http://www.orpha.net/ORDO/Orphanet_157 Carnitine palmitoyltransferase II deficiency 'Carnitine palmitoyltransferase II deficiency' SubClassOf 'Disorder of carnitine cycle and carnitine transport' 'Carnitine palmitoyltransferase II deficiency' SubClassOf 'Muscular lipidosis' 'Carnitine palmitoyltransferase II deficiency' SubClassOf 'Disorder of carnitine cycle and carnitine transport' 'Carnitine palmitoyltransferase II deficiency' SubClassOf 'Muscular lipidosis' http://www.orpha.net/ORDO/Orphanet_156 Carnitine palmitoyl transferase 1A deficiency 'Carnitine palmitoyl transferase 1A deficiency' SubClassOf 'inherited fatty acid metabolism disorder' 'Carnitine palmitoyl transferase 1A deficiency' SubClassOf 'Disorder of carnitine cycle and carnitine transport' 'Carnitine palmitoyl transferase 1A deficiency' SubClassOf 'Disorder of carnitine cycle and carnitine transport' http://www.orpha.net/ORDO/Orphanet_154 Familial isolated dilated cardiomyopathy 'Familial isolated dilated cardiomyopathy' SubClassOf 'Familial dilated cardiomyopathy' 'Familial isolated dilated cardiomyopathy' SubClassOf 'Familial dilated cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_71289 Radio-ulnar synostosis - amegakaryocytic thrombocytopenia 'Radio-ulnar synostosis - amegakaryocytic thrombocytopenia' SubClassOf 'congenital hematological disorder' 'Radio-ulnar synostosis - amegakaryocytic thrombocytopenia' SubClassOf 'congenital limb malformation' 'Radio-ulnar synostosis - amegakaryocytic thrombocytopenia' SubClassOf 'syndromic constitutional thrombocytopenia' http://purl.obolibrary.org/obo/MONDO_0000819 anencephaly 'anencephaly' SubClassOf 'Rare genetic neurological disorder' 'anencephaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.orpha.net/ORDO/Orphanet_71290 Familial platelet syndrome with predisposition to acute myelogenous leukemia 'Familial platelet syndrome with predisposition to acute myelogenous leukemia' SubClassOf 'Dense granule disease' 'Familial platelet syndrome with predisposition to acute myelogenous leukemia' SubClassOf 'Inherited cancer-predisposing syndrome' 'Familial platelet syndrome with predisposition to acute myelogenous leukemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0000816 abdominal obesity-metabolic syndrome 'abdominal obesity-metabolic syndrome' SubClassOf 'Inborn errors of metabolism' 'abdominal obesity-metabolic syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019052 http://www.orpha.net/ORDO/Orphanet_169 Ringed hair disease 'Ringed hair disease' SubClassOf 'Isolated hair shaft abnormality' 'Ringed hair disease' SubClassOf 'Isolated hair shaft abnormality' http://www.orpha.net/ORDO/Orphanet_168 Loose anagen syndrome 'Loose anagen syndrome' SubClassOf 'genetic alopecia' 'Loose anagen syndrome' SubClassOf 'disorder of development or morphogenesis' 'Loose anagen syndrome' SubClassOf 'Alopecia' 'Loose anagen syndrome' SubClassOf 'Alopecia' http://www.orpha.net/ORDO/Orphanet_167 Chédiak-Higashi syndrome 'Chédiak-Higashi syndrome' SubClassOf 'congenital nervous system disorder' 'Chédiak-Higashi syndrome' SubClassOf 'Syndromic oculocutaneous albinism' 'Chédiak-Higashi syndrome' SubClassOf 'Genetic neurodegenerative disease' 'Chédiak-Higashi syndrome' SubClassOf 'eye degenerative disorder' 'Chédiak-Higashi syndrome' SubClassOf 'Genetic peripheral neuropathy' 'Chédiak-Higashi syndrome' SubClassOf 'Disorder of lysosomal-related organelles' 'Chédiak-Higashi syndrome' SubClassOf 'Dense granule disease' 'Chédiak-Higashi syndrome' SubClassOf 'Constitutional neutropenia' 'Chédiak-Higashi syndrome' SubClassOf 'Syndromic oculocutaneous albinism' 'Chédiak-Higashi syndrome' SubClassOf 'Genetic neurodegenerative disease' 'Chédiak-Higashi syndrome' SubClassOf 'Disorder of lysosomal-related organelles' 'Chédiak-Higashi syndrome' SubClassOf 'Dense granule disease' http://www.orpha.net/ORDO/Orphanet_166 Charcot-Marie-Tooth disease 'Charcot-Marie-Tooth disease' SubClassOf 'Genetic peripheral neuropathy' 'Charcot-Marie-Tooth disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_165 Neutral lipid storage disease 'Neutral lipid storage disease' SubClassOf 'Lipid storage disease' 'Neutral lipid storage disease' SubClassOf 'Muscular lipidosis' 'Neutral lipid storage disease' SubClassOf 'Muscular lipidosis' http://www.orpha.net/ORDO/Orphanet_163 Hereditary hyperferritinemia with congenital cataracts 'Hereditary hyperferritinemia with congenital cataracts' SubClassOf 'Syndromic cataract' 'Hereditary hyperferritinemia with congenital cataracts' SubClassOf 'has modifier' some 'congenital' 'Hereditary hyperferritinemia with congenital cataracts' SubClassOf 'Syndromic cataract' http://www.orpha.net/ORDO/Orphanet_71278 Congenital brain dysgenesis due to glutamine synthetase deficiency 'Congenital brain dysgenesis due to glutamine synthetase deficiency' SubClassOf 'Neurometabolic disease' 'Congenital brain dysgenesis due to glutamine synthetase deficiency' SubClassOf 'congenital nervous system disorder' 'Congenital brain dysgenesis due to glutamine synthetase deficiency' SubClassOf 'Disorder of glutamine metabolism' 'Congenital brain dysgenesis due to glutamine synthetase deficiency' SubClassOf 'Neurometabolic disease' 'Congenital brain dysgenesis due to glutamine synthetase deficiency' SubClassOf 'Disorder of glutamine metabolism' http://www.orpha.net/ORDO/Orphanet_162 Cataract-glaucoma 'Cataract-glaucoma' SubClassOf 'Syndromic cataract' 'Cataract-glaucoma' SubClassOf 'Rare eye disease due to a differentiation anomaly' 'Cataract-glaucoma' SubClassOf 'Non-syndromic developmental defect of the eye' 'Cataract-glaucoma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0012806 ectodermal dysplasia and immunodeficiency 2 'ectodermal dysplasia and immunodeficiency 2' SubClassOf 'Hypohidrotic ectodermal dysplasia with immunodeficiency' 'ectodermal dysplasia and immunodeficiency 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0010293 http://purl.obolibrary.org/obo/MONDO_0012804 hypertrophic cardiomyopathy 12 'hypertrophic cardiomyopathy 12' SubClassOf 'familial hypertrophic cardiomyopathy' 'hypertrophic cardiomyopathy 12' SubClassOf 'familial hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0000828 juvenile-onset Parkinson disease 'juvenile-onset Parkinson disease' SubClassOf 'Young adult-onset Parkinsonism' 'juvenile-onset Parkinson disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017279 http://www.orpha.net/ORDO/Orphanet_357001 19p13.13 microdeletion syndrome '19p13.13 microdeletion syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '19p13.13 microdeletion syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 19' '19p13.13 microdeletion syndrome' SubClassOf 'syndromic intellectual disability' '19p13.13 microdeletion syndrome' SubClassOf 'congenital nervous system disorder' '19p13.13 microdeletion syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '19p13.13 microdeletion syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 19' http://www.orpha.net/ORDO/Orphanet_179 Birdshot chorioretinopathy 'Birdshot chorioretinopathy' SubClassOf 'non-infectious posterior uveitis' 'Birdshot chorioretinopathy' SubClassOf 'uveitis' http://www.orpha.net/ORDO/Orphanet_178 Chordoma 'Chordoma' SubClassOf 'notochordal tumor' 'Chordoma' SubClassOf 'hereditary disorder of connective tissue' 'Chordoma' SubClassOf 'embryonal neoplasm' http://www.orpha.net/ORDO/Orphanet_177 Rhizomelic chondrodysplasia punctata 'Rhizomelic chondrodysplasia punctata' SubClassOf 'disorder of plasmalogens biosynthesis' 'Rhizomelic chondrodysplasia punctata' SubClassOf 'Chondrodysplasia punctata' 'Rhizomelic chondrodysplasia punctata' SubClassOf 'Rare syndromic dyslipidemia' 'Rhizomelic chondrodysplasia punctata' SubClassOf 'Neurometabolic disease' 'Rhizomelic chondrodysplasia punctata' SubClassOf 'Chondrodysplasia punctata' 'Rhizomelic chondrodysplasia punctata' SubClassOf 'Peroxisomal disease' 'Rhizomelic chondrodysplasia punctata' SubClassOf 'Neurometabolic disease' http://www.orpha.net/ORDO/Orphanet_176 Non-rhizomelic chondrodysplasia punctata 'Non-rhizomelic chondrodysplasia punctata' SubClassOf 'Chondrodysplasia punctata' 'Non-rhizomelic chondrodysplasia punctata' SubClassOf 'Chondrodysplasia punctata' http://www.orpha.net/ORDO/Orphanet_175 Cartilage-hair hypoplasia 'Cartilage-hair hypoplasia' SubClassOf 'Ectodermal dysplasia syndrome' 'Cartilage-hair hypoplasia' SubClassOf 'Multiple metaphyseal dysplasia' 'Cartilage-hair hypoplasia' SubClassOf 'Immuno-osseous dysplasia' 'Cartilage-hair hypoplasia' SubClassOf 'autosomal recessive disease' 'Cartilage-hair hypoplasia' SubClassOf 'Ectodermal dysplasia syndrome' 'Cartilage-hair hypoplasia' SubClassOf 'Multiple metaphyseal dysplasia' 'Cartilage-hair hypoplasia' SubClassOf 'Immuno-osseous dysplasia' http://www.orpha.net/ORDO/Orphanet_174 Metaphyseal chondrodysplasia, Schmid type 'Metaphyseal chondrodysplasia, Schmid type' SubClassOf 'Multiple metaphyseal dysplasia' 'Metaphyseal chondrodysplasia, Schmid type' SubClassOf 'Multiple metaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_71267 Dentinogenesis imperfecta - short stature - hearing loss - intellectual disability 'Dentinogenesis imperfecta - short stature - hearing loss - intellectual disability' SubClassOf 'Syndromic genetic deafness' 'Dentinogenesis imperfecta - short stature - hearing loss - intellectual disability' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_357008 Atypical hemolytic-uremic syndrome with DGKE deficiency 'Atypical hemolytic-uremic syndrome with DGKE deficiency' SubClassOf 'Atypical hemolytic-uremic syndrome' 'Atypical hemolytic-uremic syndrome with DGKE deficiency' SubClassOf 'Atypical hemolytic-uremic syndrome' http://www.orpha.net/ORDO/Orphanet_172 Progressive familial intrahepatic cholestasis 'Progressive familial intrahepatic cholestasis' SubClassOf 'Disorder of bilirubin metabolism and excretion' 'Progressive familial intrahepatic cholestasis' SubClassOf 'Familial intrahepatic cholestasis' 'Progressive familial intrahepatic cholestasis' SubClassOf 'syndromic disease' 'Progressive familial intrahepatic cholestasis' SubClassOf 'Disorder of bilirubin metabolism and excretion' 'Progressive familial intrahepatic cholestasis' SubClassOf 'Familial intrahepatic cholestasis' http://www.orpha.net/ORDO/Orphanet_170 Woolly hair 'Woolly hair' SubClassOf 'Isolated hair shaft abnormality' 'Woolly hair' SubClassOf 'Isolated hair shaft abnormality' http://www.orpha.net/ORDO/Orphanet_71271 Split hand - split foot - deafness 'Split hand - split foot - deafness' SubClassOf 'congenital limb malformation' 'Split hand - split foot - deafness' SubClassOf 'congenital nervous system disorder' 'Split hand - split foot - deafness' SubClassOf 'Syndromic genetic deafness' 'Split hand - split foot - deafness' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Split hand - split foot - deafness' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_71277 Encephalopathy due to GLUT1 deficiency 'Encephalopathy due to GLUT1 deficiency' SubClassOf 'GLUT1 deficiency syndrome' 'Encephalopathy due to GLUT1 deficiency' SubClassOf 'Glucose transport disorder' 'Encephalopathy due to GLUT1 deficiency' SubClassOf 'Neurometabolic disease' http://www.orpha.net/ORDO/Orphanet_71275 Rh deficiency syndrome 'Rh deficiency syndrome' SubClassOf 'Hereditary stomatocytosis' 'Rh deficiency syndrome' SubClassOf 'familial hemolytic anemia' 'Rh deficiency syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2475 White forelock with malformations 'White forelock with malformations' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'White forelock with malformations' SubClassOf 'heart disease' 'White forelock with malformations' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_2473 McKusick-Kaufman syndrome 'McKusick-Kaufman syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'McKusick-Kaufman syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2471 McDonough syndrome 'McDonough syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'McDonough syndrome' SubClassOf 'syndromic intellectual disability' 'McDonough syndrome' SubClassOf 'congenital nervous system disorder' 'McDonough syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'McDonough syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2470 Matthew-Wood syndrome 'Matthew-Wood syndrome' SubClassOf 'Isolated anophthalmia - microphthalmia' 'Matthew-Wood syndrome' SubClassOf 'non-syndromic diaphragmatic or abdominal wall malformation' 'Matthew-Wood syndrome' SubClassOf 'syndromic respiratory or mediastinal malformation' 'Matthew-Wood syndrome' SubClassOf 'Syndromic microphthalmia' 'Matthew-Wood syndrome' SubClassOf 'syndromic diaphragmatic or thoracic malformation' 'Matthew-Wood syndrome' SubClassOf 'syndromic diaphragmatic or abdominal wall malformation' 'Matthew-Wood syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Matthew-Wood syndrome' SubClassOf 'isolated microphthalmia' 'Matthew-Wood syndrome' SubClassOf 'Non-syndromic respiratory or mediastinal malformation' 'Matthew-Wood syndrome' SubClassOf 'Genetic respiratory malformation' 'Matthew-Wood syndrome' SubClassOf 'thoracic malformation' 'Matthew-Wood syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2479 Megalocornea-intellectual disability syndrome 'Megalocornea-intellectual disability syndrome' SubClassOf 'eye disease' 'Megalocornea-intellectual disability syndrome' SubClassOf 'has modifier' some 'rare' 'Megalocornea-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_2478 Megalencephalic leukoencephalopathy with subcortical cysts 'Megalencephalic leukoencephalopathy with subcortical cysts' SubClassOf 'Leukodystrophy' 'Megalencephalic leukoencephalopathy with subcortical cysts' SubClassOf 'leukoencephalopathy, megalencephalic' 'Megalencephalic leukoencephalopathy with subcortical cysts' SubClassOf 'Leukodystrophy' http://www.orpha.net/ORDO/Orphanet_2476 Medeira-Dennis-Donnai syndrome 'Medeira-Dennis-Donnai syndrome' SubClassOf 'Orofacial clefting syndrome' 'Medeira-Dennis-Donnai syndrome' SubClassOf 'Orofacial clefting syndrome' http://www.orpha.net/ORDO/Orphanet_2485 Melorheostosis 'Melorheostosis' SubClassOf 'Osteopetrosis' 'Melorheostosis' SubClassOf 'Osteopetrosis' http://www.orpha.net/ORDO/Orphanet_2484 Osteodysplasty, Melnick-Needles type 'Osteodysplasty, Melnick-Needles type' SubClassOf 'congenital nervous system disorder' 'Osteodysplasty, Melnick-Needles type' SubClassOf 'Frontootopalatodigital syndrome' 'Osteodysplasty, Melnick-Needles type' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Osteodysplasty, Melnick-Needles type' SubClassOf 'X-linked syndromic intellectual disability' 'Osteodysplasty, Melnick-Needles type' SubClassOf 'eye disease' 'Osteodysplasty, Melnick-Needles type' SubClassOf 'otopalatodigital syndrome spectrum disorder' 'Osteodysplasty, Melnick-Needles type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019027 'Osteodysplasty, Melnick-Needles type' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_2482 Melhem-Fahl syndrome 'Melhem-Fahl syndrome' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' 'Melhem-Fahl syndrome' SubClassOf 'Dysostosis of genetic origin' 'Melhem-Fahl syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2489 Upper limb defect - eye and ear abnormalities 'Upper limb defect - eye and ear abnormalities' SubClassOf 'syndromic intellectual disability' 'Upper limb defect - eye and ear abnormalities' SubClassOf 'congenital nervous system disorder' 'Upper limb defect - eye and ear abnormalities' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Upper limb defect - eye and ear abnormalities' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_2487 Lower limb deficiency - hypospadias 'Lower limb deficiency - hypospadias' SubClassOf 'Syndromic urogenital tract malformation' 'Lower limb deficiency - hypospadias' SubClassOf 'Syndromic urogenital tract malformation' http://www.orpha.net/ORDO/Orphanet_2497 Upper limb mesomelic dysplasia 'Upper limb mesomelic dysplasia' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' 'Upper limb mesomelic dysplasia' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' http://www.orpha.net/ORDO/Orphanet_2496 Mesomelia-synostoses syndrome 'Mesomelia-synostoses syndrome' SubClassOf 'osteochondrodysplasia' 'Mesomelia-synostoses syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 8' 'Mesomelia-synostoses syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 8' http://www.orpha.net/ORDO/Orphanet_2495 Meningioma 'Meningioma' SubClassOf 'meningeal neoplasm' 'Meningioma' SubClassOf 'meningeal neoplasm' http://www.orpha.net/ORDO/Orphanet_2492 Limb transversal defect - cardiac anomaly 'Limb transversal defect - cardiac anomaly' SubClassOf 'Genetic syndrome with limb reduction defects' 'Limb transversal defect - cardiac anomaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2491 Müllerian duct anomalies - limb anomalies 'Müllerian duct anomalies - limb anomalies' SubClassOf 'Syndromic urogenital tract malformation' 'Müllerian duct anomalies - limb anomalies' SubClassOf 'syndromic uterovaginal malformation' 'Müllerian duct anomalies - limb anomalies' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Müllerian duct anomalies - limb anomalies' SubClassOf 'Syndromic urogenital tract malformation' 'Müllerian duct anomalies - limb anomalies' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_2499 Metachondromatosis 'Metachondromatosis' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_2498 Syndactyly type 8 'Syndactyly type 8' SubClassOf 'Syndactyly' 'Syndactyly type 8' SubClassOf 'Syndactyly' http://purl.obolibrary.org/obo/MONDO_0000870 childhood acute lymphoblastic leukemia 'childhood acute lymphoblastic leukemia' SubClassOf 'acute lymphoblastic leukemia' 'childhood acute lymphoblastic leukemia' SubClassOf 'childhood leukemia' 'childhood acute lymphoblastic leukemia' SubClassOf 'acute lymphoblastic leukemia' 'childhood acute lymphoblastic leukemia' SubClassOf 'childhood leukemia' http://www.orpha.net/ORDO/Orphanet_502444 alkaline ceramidase 3 deficiency 'alkaline ceramidase 3 deficiency' SubClassOf 'Leukodystrophy' 'alkaline ceramidase 3 deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0009206 factor V and factor VIII, combined deficiency of, type 1 'factor V and factor VIII, combined deficiency of, type 1' SubClassOf 'Combined deficiency of factor V and factor VIII' 'factor V and factor VIII, combined deficiency of, type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021181 'factor V and factor VIII, combined deficiency of, type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018175 http://www.orpha.net/ORDO/Orphanet_2431 Central bilateral macrogyria 'Central bilateral macrogyria' SubClassOf 'Cerebral cortical dysplasia' 'Central bilateral macrogyria' SubClassOf 'Cerebral cortical dysplasia' http://www.orpha.net/ORDO/Orphanet_2430 Congenital macroglossia 'Congenital macroglossia' SubClassOf 'Macroglossia' 'Congenital macroglossia' SubClassOf 'Macroglossia' http://purl.obolibrary.org/obo/MONDO_0012868 thrombophilia due to protein S deficiency, autosomal dominant 'thrombophilia due to protein S deficiency, autosomal dominant' SubClassOf 'Hereditary thrombophilia due to congenital protein S deficiency' 'thrombophilia due to protein S deficiency, autosomal dominant' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019144 http://www.orpha.net/ORDO/Orphanet_2439 Patterson-Stevenson-Fontaine syndrome 'Patterson-Stevenson-Fontaine syndrome' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Patterson-Stevenson-Fontaine syndrome' SubClassOf 'Acrofacial dysostosis' 'Patterson-Stevenson-Fontaine syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2438 Hand-foot-genital syndrome 'Hand-foot-genital syndrome' SubClassOf 'congenital limb malformation' 'Hand-foot-genital syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Hand-foot-genital syndrome' SubClassOf 'autosomal dominant disease' 'Hand-foot-genital syndrome' SubClassOf 'syndromic uterovaginal malformation' 'Hand-foot-genital syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009214 Fanconi anemia complementation group D2 'Fanconi anemia complementation group D2' SubClassOf 'Fanconi anemia' 'Fanconi anemia complementation group D2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019391 http://www.orpha.net/ORDO/Orphanet_2437 Split hand - urinary anomalies - spina bifida 'Split hand - urinary anomalies - spina bifida' SubClassOf 'Syndromic urogenital tract malformation' 'Split hand - urinary anomalies - spina bifida' SubClassOf 'syndromic intellectual disability' 'Split hand - urinary anomalies - spina bifida' SubClassOf 'congenital nervous system disorder' 'Split hand - urinary anomalies - spina bifida' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Split hand - urinary anomalies - spina bifida' SubClassOf 'Syndromic urogenital tract malformation' 'Split hand - urinary anomalies - spina bifida' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009213 Fanconi anemia complementation group C 'Fanconi anemia complementation group C' SubClassOf 'Fanconi anemia' 'Fanconi anemia complementation group C' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019391 http://www.orpha.net/ORDO/Orphanet_2435 Hypo- and hypermelanotic cutaneous macules - retarded growth - intellectual disability 'Hypo- and hypermelanotic cutaneous macules - retarded growth - intellectual disability' SubClassOf 'pigmentation disease' 'Hypo- and hypermelanotic cutaneous macules - retarded growth - intellectual disability' SubClassOf 'Genetic pigmentation anomaly of the skin' 'Hypo- and hypermelanotic cutaneous macules - retarded growth - intellectual disability' SubClassOf 'Genetic pigmentation anomaly of the skin' http://www.orpha.net/ORDO/Orphanet_2432 Macrosomia - microphthalmia - cleft palate 'Macrosomia - microphthalmia - cleft palate' SubClassOf 'Orofacial clefting syndrome' 'Macrosomia - microphthalmia - cleft palate' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Macrosomia - microphthalmia - cleft palate' SubClassOf 'Orofacial clefting syndrome' 'Macrosomia - microphthalmia - cleft palate' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_2429 Macrocephaly - spastic paraplegia - dysmorphism 'Macrocephaly - spastic paraplegia - dysmorphism' SubClassOf 'Pure or complex autosomal recessive spastic paraplegia' 'Macrocephaly - spastic paraplegia - dysmorphism' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Macrocephaly - spastic paraplegia - dysmorphism' SubClassOf 'syndromic intellectual disability' 'Macrocephaly - spastic paraplegia - dysmorphism' SubClassOf 'congenital nervous system disorder' 'Macrocephaly - spastic paraplegia - dysmorphism' SubClassOf 'Complex hereditary spastic paraplegia' 'Macrocephaly - spastic paraplegia - dysmorphism' SubClassOf 'Pure or complex autosomal recessive spastic paraplegia' 'Macrocephaly - spastic paraplegia - dysmorphism' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_2442 X-linked lymphoproliferative disease 'X-linked lymphoproliferative disease' SubClassOf 'Primary hemophagocytic lymphohistiocytosis' 'X-linked lymphoproliferative disease' SubClassOf 'X-linked disease' 'X-linked lymphoproliferative disease' SubClassOf 'immunodeficiency disease' 'X-linked lymphoproliferative disease' SubClassOf 'Lymphoproliferative syndrome' 'X-linked lymphoproliferative disease' SubClassOf 'Primary hemophagocytic lymphohistiocytosis' 'X-linked lymphoproliferative disease' SubClassOf 'Lymphoproliferative syndrome' http://www.orpha.net/ORDO/Orphanet_2440 Split hand-split foot malformation 'Split hand-split foot malformation' SubClassOf 'Split hand or/and split foot malformation' 'Split hand-split foot malformation' SubClassOf 'Split hand or/and split foot malformation' http://purl.obolibrary.org/obo/MONDO_0009229 hyaline fibromatosis syndrome 'hyaline fibromatosis syndrome' SubClassOf 'Primary osteolysis' 'hyaline fibromatosis syndrome' SubClassOf 'genetic disorder' 'hyaline fibromatosis syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019707 http://purl.obolibrary.org/obo/MONDO_0010217 de Sanctis-Cacchione syndrome 'de Sanctis-Cacchione syndrome' SubClassOf 'syndromic disease' 'de Sanctis-Cacchione syndrome' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_2445 Conotruncal heart malformations 'Conotruncal heart malformations' SubClassOf 'transposition of the great arteries and conotruncal cardiac anomaly' 'Conotruncal heart malformations' SubClassOf 'congenital heart malformation' http://purl.obolibrary.org/obo/MONDO_0009230 fibrosclerosis, multifocal 'fibrosclerosis, multifocal' SubClassOf 'IgG4-related retroperitoneal fibrosis' 'fibrosclerosis, multifocal' SubClassOf 'IgG4-related retroperitoneal fibrosis' http://www.orpha.net/ORDO/Orphanet_205 Crigler-Najjar syndrome 'Crigler-Najjar syndrome' SubClassOf 'syndromic disease' 'Crigler-Najjar syndrome' SubClassOf 'Rare metabolic liver disease' 'Crigler-Najjar syndrome' SubClassOf 'has modifier' some 'rare' 'Crigler-Najjar syndrome' SubClassOf 'hereditary hyperbilirubinemia' 'Crigler-Najjar syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2451 Mucocutaneous venous malformations 'Mucocutaneous venous malformations' SubClassOf 'Genetic vascular anomaly' 'Mucocutaneous venous malformations' SubClassOf 'simple vascular malformation' 'Mucocutaneous venous malformations' SubClassOf 'autosomal dominant disease' 'Mucocutaneous venous malformations' SubClassOf 'Genetic vascular anomaly' http://www.orpha.net/ORDO/Orphanet_202 Crandall syndrome 'Crandall syndrome' SubClassOf 'Syndromic hair shaft abnormality' 'Crandall syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_201 Cowden syndrome 'Cowden syndrome' SubClassOf 'intestinal polyposis syndrome' 'Cowden syndrome' SubClassOf 'PTEN hamartoma tumor syndrome' 'Cowden syndrome' SubClassOf 'disease has feature' some 'Genetic digestive tract tumor' 'Cowden syndrome' SubClassOf 'autosomal dominant disease' 'Cowden syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2457 Mandibuloacral dysplasia 'Mandibuloacral dysplasia' SubClassOf 'Primary osteolysis' 'Mandibuloacral dysplasia' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Mandibuloacral dysplasia' SubClassOf 'Developmental anomaly of metabolic origin' 'Mandibuloacral dysplasia' SubClassOf 'Genetic progeroid syndrome' 'Mandibuloacral dysplasia' SubClassOf 'Genetic lipodystrophy' 'Mandibuloacral dysplasia' SubClassOf 'progeroid syndrome' 'Mandibuloacral dysplasia' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Mandibuloacral dysplasia' SubClassOf 'Primary osteolysis' 'Mandibuloacral dysplasia' SubClassOf 'progeroid syndrome' http://www.orpha.net/ORDO/Orphanet_2454 Familial intestinal malrotation - facial anomalies 'Familial intestinal malrotation - facial anomalies' SubClassOf 'Syndromic intestinal malformation' 'Familial intestinal malrotation - facial anomalies' SubClassOf 'volvulus of midgut' 'Familial intestinal malrotation - facial anomalies' SubClassOf 'Syndromic intestinal malformation' http://purl.obolibrary.org/obo/MONDO_0012880 hypogonadotropic hypogonadism 5 with or without anosmia 'hypogonadotropic hypogonadism 5 with or without anosmia' SubClassOf 'Kallmann syndrome' 'hypogonadotropic hypogonadism 5 with or without anosmia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018800 http://www.orpha.net/ORDO/Orphanet_217 Isolated Dandy-Walker malformation 'Isolated Dandy-Walker malformation' SubClassOf 'Genetic cerebellar malformation' 'Isolated Dandy-Walker malformation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2464 Marfanoid syndrome, De Silva type 'Marfanoid syndrome, De Silva type' SubClassOf 'Syndromic intestinal malformation' 'Marfanoid syndrome, De Silva type' SubClassOf 'Syndromic intestinal malformation' http://www.orpha.net/ORDO/Orphanet_216 Neuronal ceroid lipofuscinosis 'Neuronal ceroid lipofuscinosis' SubClassOf 'Lipid storage disease' 'Neuronal ceroid lipofuscinosis' SubClassOf 'Neurometabolic disease' 'Neuronal ceroid lipofuscinosis' SubClassOf 'Genetic neurodegenerative disease' 'Neuronal ceroid lipofuscinosis' SubClassOf 'Neurometabolic disease' 'Neuronal ceroid lipofuscinosis' SubClassOf 'Genetic neurodegenerative disease' 'Neuronal ceroid lipofuscinosis' SubClassOf 'Lysosomal disease' http://www.orpha.net/ORDO/Orphanet_2463 Marfanoid habitus - intellectual disability, autosomal recessive 'Marfanoid habitus - intellectual disability, autosomal recessive' SubClassOf 'congenital nervous system disorder' 'Marfanoid habitus - intellectual disability, autosomal recessive' SubClassOf 'syndromic intellectual disability' 'Marfanoid habitus - intellectual disability, autosomal recessive' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Marfanoid habitus - intellectual disability, autosomal recessive' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_215 Congenital stationary night blindness 'Congenital stationary night blindness' SubClassOf 'hereditary night blindness' http://www.orpha.net/ORDO/Orphanet_2462 Shprintzen-Goldberg syndrome 'Shprintzen-Goldberg syndrome' SubClassOf 'syndromic intellectual disability' 'Shprintzen-Goldberg syndrome' SubClassOf 'Syndromic craniosynostosis' 'Shprintzen-Goldberg syndrome' SubClassOf 'congenital nervous system disorder' 'Shprintzen-Goldberg syndrome' SubClassOf 'Marfan and Marfan-related disorder' 'Shprintzen-Goldberg syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Shprintzen-Goldberg syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Shprintzen-Goldberg syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_214 Cystinuria 'Cystinuria' SubClassOf 'syndromic disease' 'Cystinuria' SubClassOf 'inherited amino acid metabolic disorder' 'Cystinuria' SubClassOf 'Genetic renal tubular disease' 'Cystinuria' SubClassOf 'Disorder of amino acid absorption and transport' 'Cystinuria' SubClassOf 'Genetic renal tubular disease' 'Cystinuria' SubClassOf 'Disorder of amino acid absorption and transport' http://www.orpha.net/ORDO/Orphanet_2461 Marden-Walker syndrome 'Marden-Walker syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Marden-Walker syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Marden-Walker syndrome' SubClassOf 'syndromic intellectual disability' 'Marden-Walker syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Marden-Walker syndrome' SubClassOf 'Arthrogryposis multiplex congenita' 'Marden-Walker syndrome' SubClassOf 'ciliopathy' 'Marden-Walker syndrome' SubClassOf 'congenital nervous system disorder' 'Marden-Walker syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_213 Cystinosis 'Cystinosis' SubClassOf 'Disorder of lysosomal amino acid transport' 'Cystinosis' SubClassOf 'Disorder of lysosomal amino acid transport' http://www.orpha.net/ORDO/Orphanet_2460 Van den Ende-Gupta syndrome 'Van den Ende-Gupta syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Van den Ende-Gupta syndrome' SubClassOf 'Arthrogryposis multiplex congenita' 'Van den Ende-Gupta syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Van den Ende-Gupta syndrome' SubClassOf 'Arthrogryposis multiplex congenita' http://www.orpha.net/ORDO/Orphanet_212 Cystathioninuria 'Cystathioninuria' SubClassOf 'inherited amino acid metabolic disorder' 'Cystathioninuria' SubClassOf 'Disorder of methionine cycle and sulfur amino acid metabolism' 'Cystathioninuria' SubClassOf 'Disorder of methionine cycle and sulfur amino acid metabolism' http://www.orpha.net/ORDO/Orphanet_211 Familial cylindromatosis 'Familial cylindromatosis' SubClassOf 'Brooke-Spiegler syndrome' 'Familial cylindromatosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0011512 http://www.orpha.net/ORDO/Orphanet_2466 MASA syndrome 'MASA syndrome' SubClassOf 'X-linked complex spastic paraplegia' 'MASA syndrome' SubClassOf 'L1 syndrome' 'MASA syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_209 Cutis laxa 'Cutis laxa' SubClassOf 'Congenital entropion' 'Cutis laxa' SubClassOf 'syndromic diaphragmatic or thoracic malformation' 'Cutis laxa' SubClassOf 'syndromic diaphragmatic or abdominal wall malformation' 'Cutis laxa' SubClassOf 'Genetic dermis elastic tissue disorder' 'Cutis laxa' SubClassOf 'Congenital entropion' 'Cutis laxa' SubClassOf 'Genetic dermis elastic tissue disorder' http://www.orpha.net/ORDO/Orphanet_207 Crouzon disease 'Crouzon disease' SubClassOf 'Syndromic craniosynostosis' 'Crouzon disease' SubClassOf 'Syndromic craniosynostosis' http://www.orpha.net/ORDO/Orphanet_370079 Proximal 16p11.2 microduplication syndrome 'Proximal 16p11.2 microduplication syndrome' SubClassOf 'syndromic intellectual disability' 'Proximal 16p11.2 microduplication syndrome' SubClassOf 'Partial duplication of the short arm of chromosome 16' 'Proximal 16p11.2 microduplication syndrome' SubClassOf 'Partial duplication of the short arm of chromosome 16' http://purl.obolibrary.org/obo/MONDO_0024886 serous adenofibroma 'serous adenofibroma' SubClassOf 'Adenofibroma' 'serous adenofibroma' SubClassOf 'Adenofibroma' http://purl.obolibrary.org/obo/MONDO_0024885 malignant ovarian serous tumor 'malignant ovarian serous tumor' SubClassOf 'ovarian serous tumor' 'malignant ovarian serous tumor' SubClassOf 'Malignant epithelial tumor of ovary' 'malignant ovarian serous tumor' SubClassOf 'ovarian serous tumor' 'malignant ovarian serous tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018364 http://www.orpha.net/ORDO/Orphanet_2405 Thickened earlobes - conductive deafness 'Thickened earlobes - conductive deafness' SubClassOf 'Syndromic genetic deafness' 'Thickened earlobes - conductive deafness' SubClassOf 'Syndromic genetic deafness' http://purl.obolibrary.org/obo/MONDO_0009273 hydatidiform mole, recurrent, 1 'hydatidiform mole, recurrent, 1' SubClassOf 'complete hydatidiform mole' 'hydatidiform mole, recurrent, 1' SubClassOf 'Gestational trophoblastic neoplasm' 'hydatidiform mole, recurrent, 1' SubClassOf 'complete hydatidiform mole' 'hydatidiform mole, recurrent, 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018944 http://purl.obolibrary.org/obo/MONDO_0010256 intellectual disability, X-linked 21 'intellectual disability, X-linked 21' SubClassOf 'X-linked non-syndromic intellectual disability' 'intellectual disability, X-linked 21' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019181 http://purl.obolibrary.org/obo/MONDO_0034204 syndromic congenital sodium diarrhea 'syndromic congenital sodium diarrhea' SubClassOf 'Genetic intractable diarrhea of infancy' 'syndromic congenital sodium diarrhea' SubClassOf 'Congenital sodium diarrhea' 'syndromic congenital sodium diarrhea' EquivalentTo 'Congenital sodium diarrhea' and ('has modifier' some 'has a syndromic presentation') 'syndromic congenital sodium diarrhea' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0015170 and ('has modifier' some 'has a syndromic presentation') 'syndromic congenital sodium diarrhea' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015170 'syndromic congenital sodium diarrhea' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019126 http://www.orpha.net/ORDO/Orphanet_2414 Congenital pulmonary lymphangiectasia 'Congenital pulmonary lymphangiectasia' SubClassOf 'Non-syndromic respiratory or mediastinal malformation' 'Congenital pulmonary lymphangiectasia' SubClassOf 'Milroy disease' 'Congenital pulmonary lymphangiectasia' SubClassOf 'has modifier' some 'congenital' 'Congenital pulmonary lymphangiectasia' SubClassOf 'syndromic respiratory or mediastinal malformation' 'Congenital pulmonary lymphangiectasia' SubClassOf 'Primary lymphedema' 'Congenital pulmonary lymphangiectasia' SubClassOf 'Genetic respiratory malformation' 'Congenital pulmonary lymphangiectasia' SubClassOf 'lymphangiectasis' 'Congenital pulmonary lymphangiectasia' SubClassOf 'Non-syndromic respiratory or mediastinal malformation' 'Congenital pulmonary lymphangiectasia' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_2412 Dislocation of the hip - dysmorphism 'Dislocation of the hip - dysmorphism' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Dislocation of the hip - dysmorphism' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_2410 Hypergonadotropic hypogonadism - cataract syndrome 'Hypergonadotropic hypogonadism - cataract syndrome' SubClassOf 'Syndromic cataract' 'Hypergonadotropic hypogonadism - cataract syndrome' SubClassOf 'Syndromic cataract' http://www.orpha.net/ORDO/Orphanet_370097 Oculocutaneous albinism type 6 'Oculocutaneous albinism type 6' SubClassOf 'Oculocutaneous albinism' 'Oculocutaneous albinism type 6' SubClassOf 'Oculocutaneous albinism' http://purl.obolibrary.org/obo/MONDO_0010266 intellectual disability, X-linked 58 'intellectual disability, X-linked 58' SubClassOf 'X-linked non-syndromic intellectual disability' 'intellectual disability, X-linked 58' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019181 http://www.orpha.net/ORDO/Orphanet_2409 Lowry-MacLean syndrome 'Lowry-MacLean syndrome' SubClassOf 'syndromic intellectual disability' 'Lowry-MacLean syndrome' SubClassOf 'congenital nervous system disorder' 'Lowry-MacLean syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Lowry-MacLean syndrome' SubClassOf 'Syndromic craniosynostosis' 'Lowry-MacLean syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Lowry-MacLean syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Lowry-MacLean syndrome' SubClassOf 'Rare disease with glaucoma as a major feature' 'Lowry-MacLean syndrome' SubClassOf 'eye disease' 'Lowry-MacLean syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2408 Lowe-Kohn-Cohen syndrome 'Lowe-Kohn-Cohen syndrome' SubClassOf 'Syndromic anorectal malformation' 'Lowe-Kohn-Cohen syndrome' SubClassOf 'Syndromic genetic deafness' 'Lowe-Kohn-Cohen syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2407 LOC syndrome 'LOC syndrome' SubClassOf 'syndromic respiratory or mediastinal malformation' 'LOC syndrome' SubClassOf 'Genetic respiratory malformation' 'LOC syndrome' SubClassOf 'Junctional epidermolysis bullosa' 'LOC syndrome' SubClassOf 'Genetic respiratory malformation' 'LOC syndrome' SubClassOf 'Junctional epidermolysis bullosa' http://www.orpha.net/ORDO/Orphanet_370091 Oculocutaneous albinism type 5 'Oculocutaneous albinism type 5' SubClassOf 'Oculocutaneous albinism' 'Oculocutaneous albinism type 5' SubClassOf 'Oculocutaneous albinism' http://www.orpha.net/ORDO/Orphanet_2427 Macrocephaly - short stature - paraplegia 'Macrocephaly - short stature - paraplegia' SubClassOf 'congenital nervous system disorder' 'Macrocephaly - short stature - paraplegia' SubClassOf 'Rare genetic neurological disorder' 'Macrocephaly - short stature - paraplegia' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Macrocephaly - short stature - paraplegia' SubClassOf 'central nervous system malformation' 'Macrocephaly - short stature - paraplegia' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Macrocephaly - short stature - paraplegia' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_370088 Acute infantile liver failure-multisystemic involvement syndrome 'Acute infantile liver failure-multisystemic involvement syndrome' SubClassOf 'infantile liver failure' 'Acute infantile liver failure-multisystemic involvement syndrome' SubClassOf 'Genetic parenchymatous liver disease' http://www.orpha.net/ORDO/Orphanet_140162 Inherited cancer-predisposing syndrome 'Inherited cancer-predisposing syndrome' SubClassOf 'has modifier' some 'rare' 'Inherited cancer-predisposing syndrome' SubClassOf 'genetic disorder' 'Inherited cancer-predisposing syndrome' SubClassOf 'predisposes towards' some 'neoplasm' 'Inherited cancer-predisposing syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0010284 Armfield syndrome 'Armfield syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Armfield syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Armfield syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 'Armfield syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015159 'Armfield syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043005 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 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'syndromic X-linked intellectual disability Lubs type' SubClassOf 'Partial duplication of the long arm of chromosome X' 'syndromic X-linked intellectual disability Lubs type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015159 'syndromic X-linked intellectual disability Lubs type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 'syndromic X-linked intellectual disability Lubs type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017010 'syndromic X-linked intellectual disability Lubs type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043005 http://www.orpha.net/ORDO/Orphanet_370109 Ataxia-telangiectasia variant 'Ataxia-telangiectasia variant' SubClassOf 'Persistent combined dystonia' 'Ataxia-telangiectasia variant' SubClassOf 'disease shares features of' some 'Ataxia-telangiectasia' 'Ataxia-telangiectasia variant' SubClassOf 'Persistent combined dystonia' http://www.orpha.net/ORDO/Orphanet_370114 Combined cervical dystonia 'Combined cervical dystonia' SubClassOf 'Persistent combined dystonia' 'Combined cervical dystonia' SubClassOf 'Persistent combined dystonia' http://www.orpha.net/ORDO/Orphanet_370103 Primary dystonia, DYT17 type 'Primary dystonia, DYT17 type' SubClassOf 'Focal, segmental or multifocal dystonia' 'Primary dystonia, DYT17 type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_357158 Mandibulofacial dysostosis - macroblepharon - macrostomia 'Mandibulofacial dysostosis - macroblepharon - macrostomia' SubClassOf 'Dysostosis of genetic origin' 'Mandibulofacial dysostosis - macroblepharon - macrostomia' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Mandibulofacial dysostosis - macroblepharon - macrostomia' SubClassOf 'Mandibulofacial dysostosis' 'Mandibulofacial dysostosis - macroblepharon - macrostomia' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Mandibulofacial dysostosis - macroblepharon - macrostomia' SubClassOf 'Mandibulofacial dysostosis' http://www.orpha.net/ORDO/Orphanet_370127 Medich giant platelet syndrome 'Medich giant platelet syndrome' SubClassOf 'Alpha granule disease' 'Medich giant platelet syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_370131 White platelet syndrome 'White platelet syndrome' SubClassOf 'Alpha granule disease' 'White platelet syndrome' SubClassOf 'Alpha granule disease' http://www.orpha.net/ORDO/Orphanet_139039 Orofacial clefting syndrome 'Orofacial clefting syndrome' SubClassOf 'otorhinolaryngologic disease' 'Orofacial clefting syndrome' SubClassOf 'disorder of development or morphogenesis' 'Orofacial clefting syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_357175 Short ulna - dysmorphism - hypotonia - intellectual disability 'Short ulna - dysmorphism - hypotonia - intellectual disability' SubClassOf 'congenital nervous system disorder' 'Short ulna - dysmorphism - hypotonia - intellectual disability' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Short ulna - dysmorphism - hypotonia - intellectual disability' SubClassOf 'syndromic intellectual disability' 'Short ulna - dysmorphism - hypotonia - intellectual disability' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_308166 Erythrokeratoderma variabilis progressiva 'Erythrokeratoderma variabilis progressiva' SubClassOf 'erythrokeratoderma' 'Erythrokeratoderma variabilis progressiva' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_213517 Familial ovarian cancer 'Familial ovarian cancer' EquivalentTo 'ovarian cancer' and ('has modifier' some 'inherited') 'Familial ovarian cancer' SubClassOf 'ovarian cancer' 'Familial ovarian cancer' SubClassOf 'Genital neoplasm, female' http://www.ebi.ac.uk/efo/EFO_1001006 Klinefelter's syndrome 'Klinefelter's syndrome' SubClassOf 'X chromosome number anomaly' 'Klinefelter's syndrome' SubClassOf 'Rare genetic neurological disorder' 'Klinefelter's syndrome' SubClassOf 'Sex chromosome disorder of sex development' 'Klinefelter's syndrome' SubClassOf 'Genetic infertility' 'Klinefelter's syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017975 'Klinefelter's syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 'Klinefelter's syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017143 http://www.orpha.net/ORDO/Orphanet_34149 Autosomal dominant medullary cystic kidney disease with or without hyperuricemia 'Autosomal dominant medullary cystic kidney disease with or without hyperuricemia' SubClassOf 'Familial cystic renal disease' 'Autosomal dominant medullary cystic kidney disease with or without hyperuricemia' SubClassOf 'autosomal dominant disease' 'Autosomal dominant medullary cystic kidney disease with or without hyperuricemia' SubClassOf 'Familial cystic renal disease' http://www.ebi.ac.uk/efo/EFO_1001007 krebs 2 carcinoma 'krebs 2 carcinoma' SubClassOf 'carcinoma' 'krebs 2 carcinoma' SubClassOf 'carcinoma' http://www.ebi.ac.uk/efo/EFO_1001017 limited scleroderma 'limited scleroderma' SubClassOf 'systemic scleroderma' 'limited scleroderma' SubClassOf 'systemic scleroderma' http://www.ebi.ac.uk/efo/EFO_1001011 lateral medullary syndrome 'lateral medullary syndrome' SubClassOf 'syndromic disease' 'lateral medullary syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_1001010 Landau-Kleffner syndrome 'Landau-Kleffner syndrome' SubClassOf 'Childhood-onset epilepsy syndrome' 'Landau-Kleffner syndrome' SubClassOf 'syndromic disease' 'Landau-Kleffner syndrome' SubClassOf 'syndromic disease' 'Landau-Kleffner syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020072 'Landau-Kleffner syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.ebi.ac.uk/efo/EFO_1001020 lipoid nephrosis 'lipoid nephrosis' SubClassOf 'glomerulonephritis' 'lipoid nephrosis' SubClassOf 'glomerulonephritis' http://www.ebi.ac.uk/efo/EFO_1001023 lupus vulgaris 'lupus vulgaris' SubClassOf 'Tuberculosis' http://www.orpha.net/ORDO/Orphanet_139009 Developmental anomaly of metabolic origin 'Developmental anomaly of metabolic origin' SubClassOf 'Inborn errors of metabolism' 'Developmental anomaly of metabolic origin' SubClassOf 'developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_213524 Hereditary site-specific ovarian cancer syndrome 'Hereditary site-specific ovarian cancer syndrome' SubClassOf 'Familial ovarian cancer' 'Hereditary site-specific ovarian cancer syndrome' SubClassOf 'Familial ovarian cancer' http://www.orpha.net/ORDO/Orphanet_2274 Ichthyosis - hepatosplenomegaly - cerebellar degeneration 'Ichthyosis - hepatosplenomegaly - cerebellar degeneration' SubClassOf 'hereditary ataxia' http://www.orpha.net/ORDO/Orphanet_2273 Ichthyosis follicularis - alopecia - photophobia 'Ichthyosis follicularis - alopecia - photophobia' SubClassOf 'X-linked ichthyosis syndrome' 'Ichthyosis follicularis - alopecia - photophobia' SubClassOf 'genetic alopecia' 'Ichthyosis follicularis - alopecia - photophobia' SubClassOf 'Alopecia' 'Ichthyosis follicularis - alopecia - photophobia' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Ichthyosis follicularis - alopecia - photophobia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2272 Ichthyosis - oral and digital anomalies 'Ichthyosis - oral and digital anomalies' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Ichthyosis - oral and digital anomalies' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_2271 Congenital ichthyosis - microcephalus - tetraplegia 'Congenital ichthyosis - microcephalus - tetraplegia' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_2278 Ichthyosis - intellectual disability - dwarfism - renal impairment 'Ichthyosis - intellectual disability - dwarfism - renal impairment' SubClassOf 'Syndromic renal or urinary tract malformation' 'Ichthyosis - intellectual disability - dwarfism - renal impairment' SubClassOf 'Syndromic urogenital tract malformation' 'Ichthyosis - intellectual disability - dwarfism - renal impairment' SubClassOf 'Syndromic renal or urinary tract malformation' http://www.orpha.net/ORDO/Orphanet_2287 Fused mandibular incisors 'Fused mandibular incisors' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_2286 Solitary median maxillary central incisor syndrome 'Solitary median maxillary central incisor syndrome' SubClassOf 'holoprosencephaly 3' 'Solitary median maxillary central incisor syndrome' SubClassOf 'Microform holoprosencephaly' 'Solitary median maxillary central incisor syndrome' SubClassOf 'Microform holoprosencephaly' http://www.orpha.net/ORDO/Orphanet_2285 Primary basilar impression 'Primary basilar impression' SubClassOf 'Rare genetic neurological disorder' 'Primary basilar impression' SubClassOf 'disorder of medulla oblongata' http://www.orpha.net/ORDO/Orphanet_2282 Dysmorphism - short stature - deafness - disorder of sex development 'Dysmorphism - short stature - deafness - disorder of sex development' SubClassOf 'syndromic intellectual disability' 'Dysmorphism - short stature - deafness - disorder of sex development' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Dysmorphism - short stature - deafness - disorder of sex development' SubClassOf 'congenital nervous system disorder' 'Dysmorphism - short stature - deafness - disorder of sex development' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_2289 Neuronal intranuclear inclusion disease 'Neuronal intranuclear inclusion disease' SubClassOf 'Genetic neurodegenerative disease' 'Neuronal intranuclear inclusion disease' SubClassOf 'Genetic dementia' 'Neuronal intranuclear inclusion disease' SubClassOf 'disease arises from feature' some 'neurodegenerative disease' 'Neuronal intranuclear inclusion disease' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_2298 Insulin-resistance syndrome type B 'Insulin-resistance syndrome type B' SubClassOf 'diabetes mellitus' http://www.orpha.net/ORDO/Orphanet_2297 Insulin-resistance syndrome type A 'Insulin-resistance syndrome type A' SubClassOf 'diabetes mellitus' http://www.orpha.net/ORDO/Orphanet_2295 Ehlers-Danlos syndrome type 11 'Ehlers-Danlos syndrome type 11' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome type 11' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2292 Congenital bowing of long bones 'Congenital bowing of long bones' SubClassOf 'Congenital deformities of limbs' 'Congenital bowing of long bones' SubClassOf 'Bent bone dysplasia' 'Congenital bowing of long bones' SubClassOf 'Congenital deformities of limbs' 'Congenital bowing of long bones' SubClassOf 'Bent bone dysplasia' http://www.orpha.net/ORDO/Orphanet_2290 Microvillus inclusion disease 'Microvillus inclusion disease' SubClassOf 'Congenital enteropathy involving intestinal mucosa development' 'Microvillus inclusion disease' SubClassOf 'Genetic intractable diarrhea of infancy' 'Microvillus inclusion disease' SubClassOf 'congenital secretory diarrhea' 'Microvillus inclusion disease' SubClassOf 'Congenital enteropathy involving intestinal mucosa development' 'Microvillus inclusion disease' SubClassOf 'Genetic intractable diarrhea of infancy' http://purl.obolibrary.org/obo/MONDO_0000700 familial hemiplegic migraine 'familial hemiplegic migraine' SubClassOf 'Familial or sporadic hemiplegic migraine' 'familial hemiplegic migraine' SubClassOf 'Rare genetic headache' 'familial hemiplegic migraine' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'familial hemiplegic migraine' SubClassOf 'migraine with aura' 'familial hemiplegic migraine' EquivalentTo 'Familial or sporadic hemiplegic migraine' and ('has modifier' some 'inherited') 'familial hemiplegic migraine' SubClassOf 'Benign partial infantile seizures' 'familial hemiplegic migraine' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018925 'familial hemiplegic migraine' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015953 'familial hemiplegic migraine' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0018925 and ('has modifier' some 'inherited') http://www.orpha.net/ORDO/Orphanet_2353 Schilbach-Rott syndrome 'Schilbach-Rott syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Schilbach-Rott syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'Schilbach-Rott syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2356 Arachnoid cyst 'Arachnoid cyst' SubClassOf 'disease has feature' some 'pituitary hormone deficiency from meningeal origin' 'Arachnoid cyst' SubClassOf 'central nervous system cystic malformation' 'Arachnoid cyst' SubClassOf 'Genetic non-syndromic central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0000722 non-syndromic synpolydactyly 'non-syndromic synpolydactyly' SubClassOf 'Syndactyly' 'non-syndromic synpolydactyly' SubClassOf 'Polydactyly' 'non-syndromic synpolydactyly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0011348 'non-syndromic synpolydactyly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019530 http://purl.obolibrary.org/obo/MONDO_0000727 scapuloperoneal myopathy 'scapuloperoneal myopathy' SubClassOf 'Emery-Dreifuss muscular dystrophy' 'scapuloperoneal myopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016830 http://www.orpha.net/ORDO/Orphanet_2364 Glycogen storage disease due to lactate dehydrogenase deficiency 'Glycogen storage disease due to lactate dehydrogenase deficiency' SubClassOf 'Glycogen storage disease' 'Glycogen storage disease due to lactate dehydrogenase deficiency' SubClassOf 'Glycogen storage disease' http://www.orpha.net/ORDO/Orphanet_2363 Lacrimoauriculodentodigital syndrome 'Lacrimoauriculodentodigital syndrome' SubClassOf 'genetic otorhinolaryngological malformation' 'Lacrimoauriculodentodigital syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Lacrimoauriculodentodigital syndrome' SubClassOf 'autosomal dominant disease' 'Lacrimoauriculodentodigital syndrome' SubClassOf 'EEC syndrome and related syndrome' 'Lacrimoauriculodentodigital syndrome' SubClassOf 'nose and cavum anomaly' 'Lacrimoauriculodentodigital syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Lacrimoauriculodentodigital syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020197 http://purl.obolibrary.org/obo/MONDO_0000732 combined oxidative phosphorylation deficiency 'combined oxidative phosphorylation deficiency' SubClassOf 'Mitochondrial oxidative phosphorylation disorder' 'combined oxidative phosphorylation deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016387 http://purl.obolibrary.org/obo/MONDO_0000734 Ohdo syndrome and variants 'Ohdo syndrome and variants' SubClassOf 'Blepharophimosis-intellectual disability syndrome' 'Ohdo syndrome and variants' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017393 http://www.orpha.net/ORDO/Orphanet_2375 Laryngeal abductor paralysis - intellectual disability 'Laryngeal abductor paralysis - intellectual disability' SubClassOf 'respiratory system disease' 'Laryngeal abductor paralysis - intellectual disability' SubClassOf 'X-linked syndromic intellectual disability' 'Laryngeal abductor paralysis - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 http://www.orpha.net/ORDO/Orphanet_2374 Congenital laryngeal web 'Congenital laryngeal web' SubClassOf 'genetic otorhinolaryngological malformation' 'Congenital laryngeal web' SubClassOf 'Larynx anomaly' 'Congenital laryngeal web' SubClassOf 'has modifier' some 'congenital' 'Congenital laryngeal web' SubClassOf 'syndromic disease' 'Congenital laryngeal web' SubClassOf 'Larynx anomaly' http://www.orpha.net/ORDO/Orphanet_2373 Congenital laryngomalacia 'Congenital laryngomalacia' SubClassOf 'Larynx anomaly' 'Congenital laryngomalacia' SubClassOf 'genetic otorhinolaryngological malformation' 'Congenital laryngomalacia' SubClassOf 'Larynx anomaly' http://www.orpha.net/ORDO/Orphanet_2371 Lethal Larsen-like syndrome 'Lethal Larsen-like syndrome' SubClassOf 'developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_2370 Larsen-like osseous dysplasia - short stature 'Larsen-like osseous dysplasia - short stature' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_2379 Early-onset parkinsonism - intellectual disability 'Early-onset parkinsonism - intellectual disability' SubClassOf 'parkinsonian disorder' 'Early-onset parkinsonism - intellectual disability' SubClassOf 'X-linked syndromic intellectual disability' 'Early-onset parkinsonism - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 http://www.orpha.net/ORDO/Orphanet_2378 Laurin-Sandrow syndrome 'Laurin-Sandrow syndrome' SubClassOf 'congenital limb malformation' http://www.orpha.net/ORDO/Orphanet_2377 Laurence-Moon syndrome 'Laurence-Moon syndrome' SubClassOf 'Rare disorder with hypogonadotropic hypogonadism' 'Laurence-Moon syndrome' SubClassOf 'autosomal recessive disease' 'Laurence-Moon syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Laurence-Moon syndrome' SubClassOf 'congenital nervous system disorder' 'Laurence-Moon syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Laurence-Moon syndrome' SubClassOf 'Unclassified primitive or secondary maculopathy' 'Laurence-Moon syndrome' SubClassOf 'Congenital hypogonadotropic hypogonadism' 'Laurence-Moon syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Laurence-Moon syndrome' SubClassOf 'syndromic intellectual disability' 'Laurence-Moon syndrome' SubClassOf 'Syndromic retinitis pigmentosa' 'Laurence-Moon syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2387 Leukonychia totalis 'Leukonychia totalis' SubClassOf 'Isolated nail anomaly' 'Leukonychia totalis' SubClassOf 'Isolated nail anomaly' http://www.orpha.net/ORDO/Orphanet_2386 Leukoencephalopathy-palmoplantar keratoderma syndrome 'Leukoencephalopathy-palmoplantar keratoderma syndrome' SubClassOf 'autosomal recessive disease' http://www.orpha.net/ORDO/Orphanet_2382 Lennox-Gastaut syndrome 'Lennox-Gastaut syndrome' SubClassOf 'syndromic disease' 'Lennox-Gastaut syndrome' SubClassOf 'childhood electroclinical syndrome' 'Lennox-Gastaut syndrome' SubClassOf 'Childhood-onset epilepsy syndrome' 'Lennox-Gastaut syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2380 Legg-Calvé-Perthes disease 'Legg-Calvé-Perthes disease' SubClassOf 'disease has feature' some 'osteonecrosis' 'Legg-Calvé-Perthes disease' SubClassOf 'Osteonecrosis of genetic origin' 'Legg-Calvé-Perthes disease' SubClassOf 'hip region disorder' http://purl.obolibrary.org/obo/MONDO_0012737 long QT syndrome 10 'long QT syndrome 10' SubClassOf 'Familial long QT syndrome' 'long QT syndrome 10' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019171 http://purl.obolibrary.org/obo/MONDO_0012738 long QT syndrome 11 'long QT syndrome 11' SubClassOf 'Familial long QT syndrome' 'long QT syndrome 11' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019171 http://www.orpha.net/ORDO/Orphanet_2388 Choreoacanthocytosis 'Choreoacanthocytosis' SubClassOf 'Genetic peripheral neuropathy' 'Choreoacanthocytosis' SubClassOf 'Neurometabolic disease' 'Choreoacanthocytosis' SubClassOf 'epidermal disease' 'Choreoacanthocytosis' SubClassOf 'genetic skin disease' 'Choreoacanthocytosis' SubClassOf 'Neuroacanthocytosis' 'Choreoacanthocytosis' SubClassOf 'Neurometabolic disease' 'Choreoacanthocytosis' SubClassOf 'Neuroacanthocytosis' http://purl.obolibrary.org/obo/MONDO_0000761 syndrome caused by partial chromosomal deletion 'syndrome caused by partial chromosomal deletion' SubClassOf 'Chromosomal anomaly' 'syndrome caused by partial chromosomal deletion' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019040 http://www.orpha.net/ORDO/Orphanet_2310 Absence deformity of leg - cataract 'Absence deformity of leg - cataract' SubClassOf 'congenital limb malformation' 'Absence deformity of leg - cataract' SubClassOf 'Dysostosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0000764 epithelial-stromal TGFBI dystrophy 'epithelial-stromal TGFBI dystrophy' SubClassOf 'Corneal dystrophy' 'epithelial-stromal TGFBI dystrophy' SubClassOf 'genetic disorder' 'epithelial-stromal TGFBI dystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018102 http://purl.obolibrary.org/obo/MONDO_0000763 epithelial and subepithelial corneal dystrophy 'epithelial and subepithelial corneal dystrophy' SubClassOf 'Corneal dystrophy' 'epithelial and subepithelial corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018102 http://purl.obolibrary.org/obo/MONDO_0000762 syndrome caused by partial chromosomal duplication 'syndrome caused by partial chromosomal duplication' SubClassOf 'Chromosomal anomaly' 'syndrome caused by partial chromosomal duplication' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019040 http://www.orpha.net/ORDO/Orphanet_2318 Joubert syndrome with oculorenal defect 'Joubert syndrome with oculorenal defect' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Joubert syndrome with oculorenal defect' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' 'Joubert syndrome with oculorenal defect' SubClassOf 'Joubert syndrome and related disorders' 'Joubert syndrome with oculorenal defect' SubClassOf 'Oculomotor apraxia or related oculomotor disease' 'Joubert syndrome with oculorenal defect' SubClassOf 'central nervous system malformation' 'Joubert syndrome with oculorenal defect' SubClassOf 'Syndromic retinitis pigmentosa' 'Joubert syndrome with oculorenal defect' SubClassOf 'Familial cystic renal disease' 'Joubert syndrome with oculorenal defect' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2316 Johnson neuroectodermal syndrome 'Johnson neuroectodermal syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Johnson neuroectodermal syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Johnson neuroectodermal syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Johnson neuroectodermal syndrome' SubClassOf 'congenital nervous system disorder' 'Johnson neuroectodermal syndrome' SubClassOf 'syndromic intellectual disability' 'Johnson neuroectodermal syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2315 Johanson-Blizzard syndrome 'Johanson-Blizzard syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Johanson-Blizzard syndrome' SubClassOf 'Disease associated with non-acquired combined pituitary hormone deficiency' 'Johanson-Blizzard syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Johanson-Blizzard syndrome' SubClassOf 'congenital nervous system disorder' 'Johanson-Blizzard syndrome' SubClassOf 'Syndromic hypothyroidism' 'Johanson-Blizzard syndrome' SubClassOf 'autosomal recessive disease' 'Johanson-Blizzard syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Johanson-Blizzard syndrome' SubClassOf 'Syndromic genetic deafness' 'Johanson-Blizzard syndrome' SubClassOf 'Syndromic anorectal malformation' 'Johanson-Blizzard syndrome' SubClassOf 'syndromic intellectual disability' 'Johanson-Blizzard syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'Johanson-Blizzard syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2314 Autosomal dominant hyper-IgE syndrome 'Autosomal dominant hyper-IgE syndrome' SubClassOf 'autosomal dominant disease' 'Autosomal dominant hyper-IgE syndrome' SubClassOf 'Hyper-IgE syndrome' 'Autosomal dominant hyper-IgE syndrome' SubClassOf 'Hyper-IgE syndrome' http://www.orpha.net/ORDO/Orphanet_2312 Transient familial neonatal hyperbilirubinemia 'Transient familial neonatal hyperbilirubinemia' SubClassOf 'liver disease' 'Transient familial neonatal hyperbilirubinemia' SubClassOf 'hereditary hyperbilirubinemia' 'Transient familial neonatal hyperbilirubinemia' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_2311 Autosomal recessive spondylocostal dysostosis 'Autosomal recessive spondylocostal dysostosis' SubClassOf 'Congenital disorder of glycosylation-related bone disorder' 'Autosomal recessive spondylocostal dysostosis' SubClassOf 'Disorder of fucoglycosan synthesis' 'Autosomal recessive spondylocostal dysostosis' SubClassOf 'spondylocostal dysostosis' 'Autosomal recessive spondylocostal dysostosis' SubClassOf 'autosomal recessive disease' 'Autosomal recessive spondylocostal dysostosis' SubClassOf 'Congenital disorder of glycosylation-related bone disorder' 'Autosomal recessive spondylocostal dysostosis' SubClassOf 'Disorder of fucoglycosan synthesis' http://www.orpha.net/ORDO/Orphanet_95157 Acute hepatic porphyria 'Acute hepatic porphyria' SubClassOf 'Porphyria' 'Acute hepatic porphyria' SubClassOf 'inherited porphyria' 'Acute hepatic porphyria' SubClassOf 'liver disease' 'Acute hepatic porphyria' SubClassOf 'Porphyria' http://www.orpha.net/ORDO/Orphanet_2309 Pachyonychia congenita 'Pachyonychia congenita' SubClassOf 'Focal palmoplantar keratoderma' 'Pachyonychia congenita' SubClassOf 'Syndromic nail anomaly' 'Pachyonychia congenita' SubClassOf 'Syndromic nail anomaly' http://www.orpha.net/ORDO/Orphanet_2308 Jacobsen syndrome 'Jacobsen syndrome' SubClassOf 'syndromic constitutional thrombocytopenia' 'Jacobsen syndrome' SubClassOf 'Eyelids malposition disorder' 'Jacobsen syndrome' SubClassOf 'syndromic disease' 'Jacobsen syndrome' SubClassOf 'Ptosis' 'Jacobsen syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 11' 'Jacobsen syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0000766 corneal endothelial dystrophy 'corneal endothelial dystrophy' SubClassOf 'Corneal dystrophy' 'corneal endothelial dystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018102 http://www.orpha.net/ORDO/Orphanet_2329 Karsch-Neugebauer syndrome 'Karsch-Neugebauer syndrome' SubClassOf 'congenital limb malformation' 'Karsch-Neugebauer syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' 'Karsch-Neugebauer syndrome' SubClassOf 'Dysostosis of genetic origin' 'Karsch-Neugebauer syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_95159 Hepatoerythropoietic porphyria 'Hepatoerythropoietic porphyria' SubClassOf 'Familial porphyria cutanea tarda' 'Hepatoerythropoietic porphyria' SubClassOf 'Porphyria cutanea tarda' 'Hepatoerythropoietic porphyria' SubClassOf 'Chronic hepatic porphyria' http://www.orpha.net/ORDO/Orphanet_2328 Kapur-Toriello syndrome 'Kapur-Toriello syndrome' SubClassOf 'Orofacial clefting syndrome' 'Kapur-Toriello syndrome' SubClassOf 'syndromic intellectual disability' 'Kapur-Toriello syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Kapur-Toriello syndrome' SubClassOf 'congenital nervous system disorder' 'Kapur-Toriello syndrome' SubClassOf 'Orofacial clefting syndrome' 'Kapur-Toriello syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_2326 Kallmann syndrome - heart disease 'Kallmann syndrome - heart disease' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Kallmann syndrome - heart disease' SubClassOf 'Congenital hypogonadotropic hypogonadism' http://www.orpha.net/ORDO/Orphanet_2325 Epidermolysis bullosa simplex with anodontia/hypodontia 'Epidermolysis bullosa simplex with anodontia/hypodontia' SubClassOf 'Epidermolysis bullosa simplex' 'Epidermolysis bullosa simplex with anodontia/hypodontia' SubClassOf 'Epidermolysis bullosa simplex' http://www.orpha.net/ORDO/Orphanet_2324 Kaler-Garrity-Stern syndrome 'Kaler-Garrity-Stern syndrome' SubClassOf 'syndromic intellectual disability' 'Kaler-Garrity-Stern syndrome' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_2323 Sanjad-Sakati syndrome 'Sanjad-Sakati syndrome' SubClassOf 'syndromic intellectual disability' 'Sanjad-Sakati syndrome' SubClassOf 'autosomal recessive disease' 'Sanjad-Sakati syndrome' SubClassOf 'congenital nervous system disorder' 'Sanjad-Sakati syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Sanjad-Sakati syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_2322 Kabuki syndrome 'Kabuki syndrome' SubClassOf 'syndromic diaphragmatic or thoracic malformation' 'Kabuki syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Kabuki syndrome' SubClassOf 'syndromic diaphragmatic or abdominal wall malformation' 'Kabuki syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'Kabuki syndrome' SubClassOf 'Syndrome associated with Pierre Robin syndrome' 'Kabuki syndrome' SubClassOf 'Congenital ectropion' 'Kabuki syndrome' SubClassOf 'Syndromic anorectal malformation' 'Kabuki syndrome' SubClassOf 'congenital nervous system disorder' 'Kabuki syndrome' SubClassOf 'syndromic intellectual disability' 'Kabuki syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Kabuki syndrome' SubClassOf 'Congenital entropion' 'Kabuki syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2319 Juberg-Hayward syndrome 'Juberg-Hayward syndrome' SubClassOf 'Orofacial clefting syndrome' 'Juberg-Hayward syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Juberg-Hayward syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_95161 Chronic hepatic porphyria 'Chronic hepatic porphyria' SubClassOf 'Acute hepatic porphyria' 'Chronic hepatic porphyria' SubClassOf 'Porphyria' http://www.orpha.net/ORDO/Orphanet_2332 KBG syndrome 'KBG syndrome' SubClassOf 'congenital nervous system disorder' 'KBG syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'KBG syndrome' SubClassOf 'syndromic intellectual disability' 'KBG syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'KBG syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'KBG syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2339 Keratosis follicularis - dwarfism - cerebral atrophy 'Keratosis follicularis - dwarfism - cerebral atrophy' SubClassOf 'epidermal disease' 'Keratosis follicularis - dwarfism - cerebral atrophy' SubClassOf 'genetic skin disease' 'Keratosis follicularis - dwarfism - cerebral atrophy' SubClassOf 'X-linked syndromic intellectual disability' 'Keratosis follicularis - dwarfism - cerebral atrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 http://www.orpha.net/ORDO/Orphanet_2338 Isolated punctate palmoplantar keratoderma 'Isolated punctate palmoplantar keratoderma' SubClassOf 'Punctate palmoplantar keratoderma' 'Isolated punctate palmoplantar keratoderma' SubClassOf 'has modifier' some 'has an isolated presentation' 'Isolated punctate palmoplantar keratoderma' EquivalentTo 'Punctate palmoplantar keratoderma' and ('has modifier' some 'has an isolated presentation') 'Isolated punctate palmoplantar keratoderma' SubClassOf 'Punctate palmoplantar keratoderma' http://www.orpha.net/ORDO/Orphanet_2337 Non-epidermolytic palmoplantar keratoderma 'Non-epidermolytic palmoplantar keratoderma' SubClassOf 'Isolated diffuse palmoplantar keratoderma' http://www.orpha.net/ORDO/Orphanet_2334 Autosomal dominant keratitis 'Autosomal dominant keratitis' SubClassOf 'keratitis' 'Autosomal dominant keratitis' SubClassOf 'autosomal dominant disease' 'Autosomal dominant keratitis' SubClassOf 'Corneal dystrophy' 'Autosomal dominant keratitis' SubClassOf 'Corneal dystrophy' http://www.orpha.net/ORDO/Orphanet_2333 Kenny-Caffey syndrome 'Kenny-Caffey syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'Kenny-Caffey syndrome' SubClassOf 'Syndrome with hypoparathyroidism' 'Kenny-Caffey syndrome' SubClassOf 'syndromic disease' 'Kenny-Caffey syndrome' SubClassOf 'Slender bone dysplasia' 'Kenny-Caffey syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2343 Isolated cloverleaf skull syndrome 'Isolated cloverleaf skull syndrome' SubClassOf 'Isolated craniosynostosis' 'Isolated cloverleaf skull syndrome' SubClassOf 'Isolated craniosynostosis' http://www.orpha.net/ORDO/Orphanet_2342 Haim-Munk syndrome 'Haim-Munk syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Haim-Munk syndrome' SubClassOf 'Diffuse palmoplantar keratoderma' 'Haim-Munk syndrome' SubClassOf 'Disorder of lysosomal-related organelles' 'Haim-Munk syndrome' SubClassOf 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' 'Haim-Munk syndrome' SubClassOf 'autosomal recessive disease' 'Haim-Munk syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2340 Keratosis follicularis spinulosa decalvans 'Keratosis follicularis spinulosa decalvans' SubClassOf 'Keratosis pilaris atrophicans' 'Keratosis follicularis spinulosa decalvans' SubClassOf 'keratosis' 'Keratosis follicularis spinulosa decalvans' SubClassOf 'folliculitis' 'Keratosis follicularis spinulosa decalvans' SubClassOf 'Secondary ectropion' 'Keratosis follicularis spinulosa decalvans' SubClassOf 'Keratosis pilaris atrophicans' 'Keratosis follicularis spinulosa decalvans' SubClassOf 'Secondary ectropion' http://www.orpha.net/ORDO/Orphanet_2349 Muscular pseudohypertrophy - hypothyroidism 'Muscular pseudohypertrophy - hypothyroidism' SubClassOf 'Syndromic hypothyroidism' 'Muscular pseudohypertrophy - hypothyroidism' SubClassOf 'Syndromic hypothyroidism' http://www.orpha.net/ORDO/Orphanet_2348 Familial partial lipodystrophy, Dunnigan type 'Familial partial lipodystrophy, Dunnigan type' SubClassOf 'Genetic progeroid syndrome' 'Familial partial lipodystrophy, Dunnigan type' SubClassOf 'progeroid syndrome' 'Familial partial lipodystrophy, Dunnigan type' SubClassOf 'Developmental anomaly of metabolic origin' 'Familial partial lipodystrophy, Dunnigan type' SubClassOf 'Familial partial lipodystrophy' 'Familial partial lipodystrophy, Dunnigan type' SubClassOf 'progeroid syndrome' 'Familial partial lipodystrophy, Dunnigan type' SubClassOf 'Familial partial lipodystrophy' http://www.orpha.net/ORDO/Orphanet_2347 Lethal Kniest-like dysplasia 'Lethal Kniest-like dysplasia' SubClassOf 'Lethal chondrodysplasia' 'Lethal Kniest-like dysplasia' SubClassOf 'Lethal chondrodysplasia' http://www.orpha.net/ORDO/Orphanet_2346 Angioosteohypertrophic syndrome 'Angioosteohypertrophic syndrome' SubClassOf 'Congenital vascular bone syndrome' 'Angioosteohypertrophic syndrome' SubClassOf 'skin vascular disease' 'Angioosteohypertrophic syndrome' SubClassOf 'genetic skin disease' 'Angioosteohypertrophic syndrome' SubClassOf 'Overgrowth syndrome' 'Angioosteohypertrophic syndrome' SubClassOf 'Genetic vascular anomaly' 'Angioosteohypertrophic syndrome' SubClassOf 'syndromic disease' 'Angioosteohypertrophic syndrome' SubClassOf 'Congenital vascular bone syndrome' 'Angioosteohypertrophic syndrome' SubClassOf 'Overgrowth syndrome' 'Angioosteohypertrophic syndrome' SubClassOf 'Genetic vascular anomaly' http://www.orpha.net/ORDO/Orphanet_2345 Isolated Klippel-Feil syndrome 'Isolated Klippel-Feil syndrome' EquivalentTo 'Klippel-Feil syndrome' and ('has modifier' some 'has an isolated presentation') 'Isolated Klippel-Feil syndrome' SubClassOf 'Klippel-Feil syndrome' 'Isolated Klippel-Feil syndrome' SubClassOf 'has modifier' some 'has an isolated presentation' http://purl.obolibrary.org/obo/MONDO_0022113 central centrifugal cicatricial alopecia 'central centrifugal cicatricial alopecia' SubClassOf 'Alopecia' http://purl.obolibrary.org/obo/MONDO_0010127 thymoma, familial 'thymoma, familial' SubClassOf 'Thymoma' 'thymoma, familial' SubClassOf 'Thymoma' http://purl.obolibrary.org/obo/MONDO_0010120 thrombocytopenia 3 'thrombocytopenia 3' SubClassOf 'Autosomal thrombocytopenia with normal platelets' 'thrombocytopenia 3' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015679 http://purl.obolibrary.org/obo/MONDO_0010122 congenital thrombotic thrombocytopenic purpura 'congenital thrombotic thrombocytopenic purpura' SubClassOf 'thrombocytopenic purpura' 'congenital thrombotic thrombocytopenic purpura' SubClassOf 'thrombotic thrombocytopenic purpura' 'congenital thrombotic thrombocytopenic purpura' SubClassOf 'thrombophilia' 'congenital thrombotic thrombocytopenic purpura' SubClassOf 'Rare genetic coagulation disorder' 'congenital thrombotic thrombocytopenic purpura' SubClassOf 'thrombotic thrombocytopenic purpura' 'congenital thrombotic thrombocytopenic purpura' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021181 http://www.orpha.net/ORDO/Orphanet_2307 IVIC syndrome 'IVIC syndrome' SubClassOf 'Dysostosis of genetic origin' 'IVIC syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' 'IVIC syndrome' SubClassOf 'congenital limb malformation' 'IVIC syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2306 Isotretinoin-like syndrome 'Isotretinoin-like syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://www.orpha.net/ORDO/Orphanet_2301 Congenital short bowel syndrome 'Congenital short bowel syndrome' SubClassOf 'Non-syndromic intestinal malformation' 'Congenital short bowel syndrome' SubClassOf 'Primary short bowel syndrome' 'Congenital short bowel syndrome' SubClassOf 'Primary short bowel syndrome' http://www.orpha.net/ORDO/Orphanet_2300 Multiple intestinal atresia 'Multiple intestinal atresia' SubClassOf 'Primary immunodeficiency due to a defect in adaptive immunity' 'Multiple intestinal atresia' SubClassOf 'Non-syndromic intestinal malformation' 'Multiple intestinal atresia' SubClassOf 'autosomal recessive disease' 'Multiple intestinal atresia' SubClassOf 'Non-syndromic intestinal malformation' http://purl.obolibrary.org/obo/MONDO_0009179 recessive dystrophic epidermolysis bullosa 'recessive dystrophic epidermolysis bullosa' SubClassOf 'epidermolysis bullosa dystrophica' 'recessive dystrophic epidermolysis bullosa' SubClassOf 'epidermolysis bullosa dystrophica' http://purl.obolibrary.org/obo/MONDO_0010178 congenital bilateral aplasia of vas deferens from CFTR mutation 'congenital bilateral aplasia of vas deferens from CFTR mutation' SubClassOf 'Congenital bilateral absence of vas deferens' 'congenital bilateral aplasia of vas deferens from CFTR mutation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018801 http://www.orpha.net/ORDO/Orphanet_48818 Aceruloplasminemia 'Aceruloplasminemia' SubClassOf 'Disorder of iron metabolism and transport' 'Aceruloplasminemia' SubClassOf 'eye degenerative disorder' 'Aceruloplasminemia' SubClassOf 'Retinal dystrophy' 'Aceruloplasminemia' SubClassOf 'Neurodegeneration with brain iron accumulation' 'Aceruloplasminemia' SubClassOf 'Disorder of iron metabolism and transport' 'Aceruloplasminemia' SubClassOf 'Retinal dystrophy' 'Aceruloplasminemia' SubClassOf 'Neurodegeneration with brain iron accumulation' http://purl.obolibrary.org/obo/MONDO_0022177 chromosome 13q trisomy 'chromosome 13q trisomy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020052 http://www.orpha.net/ORDO/Orphanet_34217 Naxos disease 'Naxos disease' SubClassOf 'Diffuse palmoplantar keratoderma' 'Naxos disease' SubClassOf 'Syndromic hair shaft abnormality' 'Naxos disease' SubClassOf 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' 'Naxos disease' SubClassOf 'cardioectodermal syndrome' 'Naxos disease' SubClassOf 'autosomal recessive disease' 'Naxos disease' SubClassOf 'Arrhythmogenic right ventricular dysplasia' 'Naxos disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0022173 chromosome 11q trisomy 'chromosome 11q trisomy' SubClassOf 'syndrome caused by partial chromosomal duplication' 'chromosome 11q trisomy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016932 http://www.orpha.net/ORDO/Orphanet_91024 Autosomal recessive axonal Charcot-Marie-Tooth disease type 2 'Autosomal recessive axonal Charcot-Marie-Tooth disease type 2' SubClassOf 'Hereditary motor and sensory neuropathy' 'Autosomal recessive axonal Charcot-Marie-Tooth disease type 2' SubClassOf 'Charcot-Marie-Tooth disease' 'Autosomal recessive axonal Charcot-Marie-Tooth disease type 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome 'Deficiency in anterior pituitary function-variable immunodeficiency syndrome' SubClassOf 'immunodeficiency, common variable, 10' http://www.orpha.net/ORDO/Orphanet_293987 Rapid-onset childhood obesity - hypothalamic dysfunction - hypoventilation - autonomic dysregulation syndrome 'Rapid-onset childhood obesity - hypothalamic dysfunction - hypoventilation - autonomic dysregulation syndrome' SubClassOf 'Syndromic obesity' 'Rapid-onset childhood obesity - hypothalamic dysfunction - hypoventilation - autonomic dysregulation syndrome' SubClassOf 'Syndromic obesity' http://www.orpha.net/ORDO/Orphanet_254351 Distal 7q11.23 microdeletion syndrome 'Distal 7q11.23 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 7' 'Distal 7q11.23 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 7' http://www.orpha.net/ORDO/Orphanet_254361 Autosomal recessive limb-girdle muscular dystrophy type 2Q 'Autosomal recessive limb-girdle muscular dystrophy type 2Q' SubClassOf 'Qualitative or quantitative defects of plectin' 'Autosomal recessive limb-girdle muscular dystrophy type 2Q' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2Q' SubClassOf 'Qualitative or quantitative defects of plectin' 'Autosomal recessive limb-girdle muscular dystrophy type 2Q' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' http://www.orpha.net/ORDO/Orphanet_268994 Isolated focal cortical dysplasia type II 'Isolated focal cortical dysplasia type II' SubClassOf 'Isolated focal cortical dysplasia' 'Isolated focal cortical dysplasia type II' SubClassOf 'Isolated focal cortical dysplasia' http://www.orpha.net/ORDO/Orphanet_364820 TRPV4-related bone disorder 'TRPV4-related bone disorder' SubClassOf 'bone disease' 'TRPV4-related bone disorder' SubClassOf 'Rare bone disease related to a common gene or pathway defect' 'TRPV4-related bone disorder' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_293936 EDICT syndrome 'EDICT syndrome' SubClassOf 'Syndromic keratoconus' 'EDICT syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_293939 Distal Xq28 microduplication syndrome 'Distal Xq28 microduplication syndrome' SubClassOf 'chromosome Xq28 duplication syndrome' 'Distal Xq28 microduplication syndrome' SubClassOf 'Partial duplication of the long arm of chromosome X' http://www.orpha.net/ORDO/Orphanet_364817 Aggrecan-related bone disorder 'Aggrecan-related bone disorder' SubClassOf 'bone disease' http://www.orpha.net/ORDO/Orphanet_293948 1p21.3 microdeletion syndrome '1p21.3 microdeletion syndrome' SubClassOf 'Rare disease with autism' '1p21.3 microdeletion syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 1' '1p21.3 microdeletion syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_293958 Hypertelorism-preauricular sinus-punctual pits-deafness syndrome 'Hypertelorism-preauricular sinus-punctual pits-deafness syndrome' SubClassOf 'Syndromic genetic deafness' 'Hypertelorism-preauricular sinus-punctual pits-deafness syndrome' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_293955 Childhood encephalopathy due to thiamine pyrophosphokinase deficiency 'Childhood encephalopathy due to thiamine pyrophosphokinase deficiency' SubClassOf 'thiamine-responsive dysfunction syndrome' 'Childhood encephalopathy due to thiamine pyrophosphokinase deficiency' SubClassOf 'Disorder of thiamine metabolism and transport' http://www.orpha.net/ORDO/Orphanet_293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy 'Hypoinsulinemic hypoglycemia and body hemihypertrophy' SubClassOf 'Overgrowth syndrome' 'Hypoinsulinemic hypoglycemia and body hemihypertrophy' SubClassOf 'endocrine system disease' 'Hypoinsulinemic hypoglycemia and body hemihypertrophy' SubClassOf 'Overgrowth syndrome' http://www.orpha.net/ORDO/Orphanet_293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome 'Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome' SubClassOf 'Syndromic genetic deafness' 'Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome' SubClassOf 'Congenital hypogonadotropic hypogonadism' 'Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_349 Fucosidosis 'Fucosidosis' SubClassOf 'Oligosaccharidosis' 'Fucosidosis' SubClassOf 'has modifier' some 'rare' 'Fucosidosis' SubClassOf 'Oligosaccharidosis' http://www.orpha.net/ORDO/Orphanet_348 Fructose-1,6-bisphosphatase deficiency 'Fructose-1,6-bisphosphatase deficiency' SubClassOf 'Disorder of fructose metabolism' 'Fructose-1,6-bisphosphatase deficiency' SubClassOf 'Gluconeogenesis disorder' 'Fructose-1,6-bisphosphatase deficiency' SubClassOf 'Disorder of fructose metabolism' 'Fructose-1,6-bisphosphatase deficiency' SubClassOf 'Gluconeogenesis disorder' http://www.orpha.net/ORDO/Orphanet_347 Frasier syndrome 'Frasier syndrome' SubClassOf 'autosomal dominant disease' 'Frasier syndrome' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' 'Frasier syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Frasier syndrome' SubClassOf 'syndromic disease' 'Frasier syndrome' SubClassOf 'Syndrome with 46,XY disorder of sex development' 'Frasier syndrome' SubClassOf 'Primary glomerular disease' 'Frasier syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_183490 Genetic photodermatosis 'Genetic photodermatosis' SubClassOf 'has modifier' some 'rare' 'Genetic photodermatosis' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_343 Hyperimmunoglobulinemia D with periodic fever 'Hyperimmunoglobulinemia D with periodic fever' SubClassOf 'Mevalonate kinase deficiency' 'Hyperimmunoglobulinemia D with periodic fever' SubClassOf 'Hereditary periodic fever syndrome' 'Hyperimmunoglobulinemia D with periodic fever' SubClassOf 'Mevalonate kinase deficiency' http://www.orpha.net/ORDO/Orphanet_342 Familial Mediterranean fever 'Familial Mediterranean fever' SubClassOf 'Hereditary periodic fever syndrome' 'Familial Mediterranean fever' SubClassOf 'secondary glomerular disease' 'Familial Mediterranean fever' SubClassOf 'Hereditary periodic fever syndrome' http://www.orpha.net/ORDO/Orphanet_268943 Unilateral polymicrogyria 'Unilateral polymicrogyria' SubClassOf 'Polymicrogyria' 'Unilateral polymicrogyria' SubClassOf 'Polymicrogyria' http://www.orpha.net/ORDO/Orphanet_268940 Bilateral polymicrogyria 'Bilateral polymicrogyria' SubClassOf 'Polymicrogyria' 'Bilateral polymicrogyria' SubClassOf 'Polymicrogyria' http://www.orpha.net/ORDO/Orphanet_268947 Unilateral focal polymicrogyria 'Unilateral focal polymicrogyria' SubClassOf 'Unilateral polymicrogyria' 'Unilateral focal polymicrogyria' SubClassOf 'Unilateral polymicrogyria' http://www.orpha.net/ORDO/Orphanet_359 Hereditary glaucoma 'Hereditary glaucoma' SubClassOf 'glaucoma' 'Hereditary glaucoma' EquivalentTo 'glaucoma' and ('has modifier' some 'inherited') http://www.orpha.net/ORDO/Orphanet_358 Gitelman syndrome 'Gitelman syndrome' SubClassOf 'Genetic renal tubular disease' 'Gitelman syndrome' SubClassOf 'renal tubular transport disease' 'Gitelman syndrome' SubClassOf 'syndromic disease' 'Gitelman syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_356 Gerstmann-Straussler-Scheinker syndrome 'Gerstmann-Straussler-Scheinker syndrome' SubClassOf 'inherited prion disease' 'Gerstmann-Straussler-Scheinker syndrome' SubClassOf 'has_disease_location' some ('brain' or ('part_of' some 'brain')) 'Gerstmann-Straussler-Scheinker syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_355 Gaucher disease 'Gaucher disease' SubClassOf 'Oculomotor apraxia or related oculomotor disease' 'Gaucher disease' SubClassOf 'Lysosomal disease with restrictive cardiomyopathy' 'Gaucher disease' SubClassOf 'Sphingolipidosis' 'Gaucher disease' SubClassOf 'has modifier' some 'rare' 'Gaucher disease' SubClassOf 'Metabolic disease with corneal opacity' 'Gaucher disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_354 GM1 gangliosidosis 'GM1 gangliosidosis' SubClassOf 'Lysosomal storage disease with skeletal involvement' 'GM1 gangliosidosis' SubClassOf 'Metabolic disease with macular cherry-red spot' 'GM1 gangliosidosis' SubClassOf 'Neurometabolic disease' 'GM1 gangliosidosis' SubClassOf 'Nervous system anomaly with eye involvement' 'GM1 gangliosidosis' SubClassOf 'Unclassified primitive or secondary maculopathy' 'GM1 gangliosidosis' SubClassOf 'Genetic neuro-ophthalmological disease' 'GM1 gangliosidosis' SubClassOf 'Gangliosidosis' 'GM1 gangliosidosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_353 Autosomal recessive limb-girdle muscular dystrophy type 2C 'Autosomal recessive limb-girdle muscular dystrophy type 2C' SubClassOf 'Qualitative or quantitative defects of gamma-sarcoglycan' 'Autosomal recessive limb-girdle muscular dystrophy type 2C' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2C' SubClassOf 'Qualitative or quantitative defects of gamma-sarcoglycan' 'Autosomal recessive limb-girdle muscular dystrophy type 2C' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' http://www.orpha.net/ORDO/Orphanet_352 Galactosemia 'Galactosemia' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Galactosemia' SubClassOf 'Disorder of galactose metabolism' 'Galactosemia' SubClassOf 'disease has feature' some 'metabolic disease' 'Galactosemia' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Galactosemia' SubClassOf 'Disorder of galactose metabolism' http://www.orpha.net/ORDO/Orphanet_351 Galactosialidosis 'Galactosialidosis' SubClassOf 'Oligosaccharidosis' 'Galactosialidosis' SubClassOf 'Neurometabolic disease' 'Galactosialidosis' SubClassOf 'Oligosaccharidosis' 'Galactosialidosis' SubClassOf 'Neurometabolic disease' http://www.orpha.net/ORDO/Orphanet_217340 17q21.31 microduplication syndrome '17q21.31 microduplication syndrome' SubClassOf 'Rare genetic neurological disorder' '17q21.31 microduplication syndrome' SubClassOf 'Partial duplication of the long arm of chromosome 17' '17q21.31 microduplication syndrome' SubClassOf 'syndromic intellectual disability' '17q21.31 microduplication syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '17q21.31 microduplication syndrome' SubClassOf 'congenital nervous system disorder' '17q21.31 microduplication syndrome' SubClassOf 'Partial duplication of the long arm of chromosome 17' '17q21.31 microduplication syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_268926 Midline cerebral malformation 'Midline cerebral malformation' SubClassOf 'Rare genetic neurological disorder' 'Midline cerebral malformation' SubClassOf 'cerebral malformation' http://www.orpha.net/ORDO/Orphanet_217346 19q13.11 microdeletion syndrome '19q13.11 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 19' '19q13.11 microdeletion syndrome' SubClassOf 'syndromic intellectual disability' '19q13.11 microdeletion syndrome' SubClassOf 'Rare genetic neurological disorder' '19q13.11 microdeletion syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '19q13.11 microdeletion syndrome' SubClassOf 'congenital nervous system disorder' '19q13.11 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 19' '19q13.11 microdeletion syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_369 Glycogen storage disease due to liver glycogen phosphorylase deficiency 'Glycogen storage disease due to liver glycogen phosphorylase deficiency' SubClassOf 'Rare metabolic liver disease' 'Glycogen storage disease due to liver glycogen phosphorylase deficiency' SubClassOf 'Glycogen storage disease' 'Glycogen storage disease due to liver glycogen phosphorylase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency 'Glycogen storage disease due to muscle glycogen phosphorylase deficiency' SubClassOf 'Muscular glycogenosis' 'Glycogen storage disease due to muscle glycogen phosphorylase deficiency' SubClassOf 'Glycogen storage disease' 'Glycogen storage disease due to muscle glycogen phosphorylase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_367 Glycogen storage disease due to glycogen branching enzyme deficiency 'Glycogen storage disease due to glycogen branching enzyme deficiency' SubClassOf 'Muscular glycogenosis' 'Glycogen storage disease due to glycogen branching enzyme deficiency' SubClassOf 'Familial dilated cardiomyopathy' 'Glycogen storage disease due to glycogen branching enzyme deficiency' SubClassOf 'Glycogen storage disease' 'Glycogen storage disease due to glycogen branching enzyme deficiency' SubClassOf 'Muscular glycogenosis' 'Glycogen storage disease due to glycogen branching enzyme deficiency' SubClassOf 'Familial dilated cardiomyopathy' 'Glycogen storage disease due to glycogen branching enzyme deficiency' SubClassOf 'Glycogen storage disease' http://www.orpha.net/ORDO/Orphanet_366 Glycogen storage disease due to glycogen debranching enzyme deficiency 'Glycogen storage disease due to glycogen debranching enzyme deficiency' SubClassOf 'Glycogen storage disease with hypertrophic cardiomyopathy' 'Glycogen storage disease due to glycogen debranching enzyme deficiency' SubClassOf 'Glycogen storage disease' 'Glycogen storage disease due to glycogen debranching enzyme deficiency' SubClassOf 'Muscular glycogenosis' 'Glycogen storage disease due to glycogen debranching enzyme deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_365 Glycogen storage disease due to acid maltase deficiency 'Glycogen storage disease due to acid maltase deficiency' SubClassOf 'Muscular glycogenosis' 'Glycogen storage disease due to acid maltase deficiency' SubClassOf 'Glycogen storage disease' 'Glycogen storage disease due to acid maltase deficiency' SubClassOf 'Lysosomal glycogen storage disease' 'Glycogen storage disease due to acid maltase deficiency' SubClassOf 'Muscular glycogenosis' 'Glycogen storage disease due to acid maltase deficiency' SubClassOf 'Glycogen storage disease' 'Glycogen storage disease due to acid maltase deficiency' SubClassOf 'Lysosomal glycogen storage disease' http://www.orpha.net/ORDO/Orphanet_364 Glycogen storage disease due to glucose-6-phosphatase deficiency 'Glycogen storage disease due to glucose-6-phosphatase deficiency' SubClassOf 'Glycogen storage disease' 'Glycogen storage disease due to glucose-6-phosphatase deficiency' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Glycogen storage disease due to glucose-6-phosphatase deficiency' SubClassOf 'Glycogen storage disease' 'Glycogen storage disease due to glucose-6-phosphatase deficiency' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' http://www.orpha.net/ORDO/Orphanet_217371 Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 'Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins' SubClassOf 'infantile liver failure' http://www.orpha.net/ORDO/Orphanet_183472 Genetic dermis disorder 'Genetic dermis disorder' SubClassOf 'Rare genetic skin disease' 'Genetic dermis disorder' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_361 Familial glucocorticoid deficiency 'Familial glucocorticoid deficiency' SubClassOf 'Genetic chronic primary adrenal insufficiency' 'Familial glucocorticoid deficiency' SubClassOf 'has modifier' some 'rare' 'Familial glucocorticoid deficiency' SubClassOf 'Genetic chronic primary adrenal insufficiency' http://www.orpha.net/ORDO/Orphanet_293910 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form 'Familial isolated arrhythmogenic ventricular dysplasia, right dominant form' SubClassOf 'Familial isolated arrhythmogenic right ventricular dysplasia' 'Familial isolated arrhythmogenic ventricular dysplasia, right dominant form' SubClassOf 'Familial isolated arrhythmogenic right ventricular dysplasia' http://www.orpha.net/ORDO/Orphanet_183469 Genetic hypopigmentation of the skin 'Genetic hypopigmentation of the skin' SubClassOf 'Genetic pigmentation anomaly of the skin' 'Genetic hypopigmentation of the skin' SubClassOf 'Genetic pigmentation anomaly of the skin' http://www.orpha.net/ORDO/Orphanet_217377 Microduplication Xp11.22-p11.23 syndrome 'Microduplication Xp11.22-p11.23 syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Microduplication Xp11.22-p11.23 syndrome' SubClassOf 'syndromic intellectual disability' 'Microduplication Xp11.22-p11.23 syndrome' SubClassOf 'Partial duplication of the short arm of chromosome X' 'Microduplication Xp11.22-p11.23 syndrome' SubClassOf 'epilepsy' 'Microduplication Xp11.22-p11.23 syndrome' SubClassOf 'Rare genetic neurological disorder' 'Microduplication Xp11.22-p11.23 syndrome' SubClassOf 'congenital nervous system disorder' 'Microduplication Xp11.22-p11.23 syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Microduplication Xp11.22-p11.23 syndrome' SubClassOf 'Partial duplication of the short arm of chromosome X' http://www.orpha.net/ORDO/Orphanet_398189 Focal facial dermal dysplasia type IV 'Focal facial dermal dysplasia type IV' SubClassOf 'Focal facial dermal dysplasia' 'Focal facial dermal dysplasia type IV' SubClassOf 'Focal facial dermal dysplasia' http://www.orpha.net/ORDO/Orphanet_379 Chronic granulomatous disease 'Chronic granulomatous disease' SubClassOf 'congenital hematological disorder' 'Chronic granulomatous disease' SubClassOf 'phagocyte bactericidal dysfunction' 'Chronic granulomatous disease' SubClassOf 'defective phagocytic cell engulfment' 'Chronic granulomatous disease' SubClassOf 'inflammatory disease' http://www.orpha.net/ORDO/Orphanet_377 Gorlin syndrome 'Gorlin syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' 'Gorlin syndrome' SubClassOf 'disease has feature' some 'Malignant tumor of palpebral epidermis' 'Gorlin syndrome' SubClassOf 'autosomal dominant disease' 'Gorlin syndrome' SubClassOf 'Rare genetic neurological disorder' 'Gorlin syndrome' SubClassOf 'developmental defect during embryogenesis' 'Gorlin syndrome' SubClassOf 'neurocutaneous syndrome' 'Gorlin syndrome' SubClassOf 'inherited nervous system cancer-predisposing syndrome' 'Gorlin syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_376 Gordon syndrome 'Gordon syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Gordon syndrome' SubClassOf 'Distal arthrogryposis' 'Gordon syndrome' SubClassOf 'Orofacial clefting syndrome' 'Gordon syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_183481 Genetic mixed dermis disorder 'Genetic mixed dermis disorder' SubClassOf 'Genetic dermis disorder' 'Genetic mixed dermis disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019276 http://www.orpha.net/ORDO/Orphanet_374 Goldenhar syndrome 'Goldenhar syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Goldenhar syndrome' SubClassOf 'Syndromic corneal dystrophy' 'Goldenhar syndrome' SubClassOf 'Bulbar conjunctival dermoid or conjunctival dermolipoma' 'Goldenhar syndrome' SubClassOf 'Syndromic palpebral coloboma' 'Goldenhar syndrome' SubClassOf 'Lens shape anomaly' 'Goldenhar syndrome' SubClassOf 'Oculo-auriculo-vertebral spectrum' 'Goldenhar syndrome' SubClassOf 'Pierre Robin syndrome associated with branchial archs anomalies' 'Goldenhar syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_373 Simpson-Golabi-Behmel syndrome 'Simpson-Golabi-Behmel syndrome' SubClassOf 'Overgrowth syndrome' 'Simpson-Golabi-Behmel syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Simpson-Golabi-Behmel syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Simpson-Golabi-Behmel syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Simpson-Golabi-Behmel syndrome' SubClassOf 'syndromic disease' 'Simpson-Golabi-Behmel syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Simpson-Golabi-Behmel syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Simpson-Golabi-Behmel syndrome' SubClassOf 'Macroglossia' 'Simpson-Golabi-Behmel syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'Simpson-Golabi-Behmel syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_371 Glycogen storage disease due to muscle phosphofructokinase deficiency 'Glycogen storage disease due to muscle phosphofructokinase deficiency' SubClassOf 'Muscular glycogenosis' 'Glycogen storage disease due to muscle phosphofructokinase deficiency' SubClassOf 'Hemolytic anemia due to a disorder of glycolytic enzymes' 'Glycogen storage disease due to muscle phosphofructokinase deficiency' SubClassOf 'Glycogen storage disease' 'Glycogen storage disease due to muscle phosphofructokinase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_183487 Genetic skin tumor 'Genetic skin tumor' SubClassOf 'skin neoplasm' 'Genetic skin tumor' SubClassOf 'has modifier' some 'rare' 'Genetic skin tumor' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_183478 Genetic skin vascular disorder 'Genetic skin vascular disorder' SubClassOf 'Genetic dermis disorder' 'Genetic skin vascular disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019276 http://www.orpha.net/ORDO/Orphanet_293925 Lethal occipital encephalocele-skeletal dysplasia syndrome 'Lethal occipital encephalocele-skeletal dysplasia syndrome' SubClassOf 'Syndromic craniosynostosis' 'Lethal occipital encephalocele-skeletal dysplasia syndrome' SubClassOf 'Syndromic craniosynostosis' http://www.orpha.net/ORDO/Orphanet_254334 Autosomal recessive intermediate Charcot-Marie-Tooth disease type B 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type B' SubClassOf 'Autosomal recessive intermediate Charcot-Marie-Tooth disease' 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type B' SubClassOf 'Autosomal recessive intermediate Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0005499 brain glioma 'brain glioma' SubClassOf 'malignant glioma' 'brain glioma' SubClassOf 'malignant glioma' http://www.orpha.net/ORDO/Orphanet_388 Hirschsprung disease 'Hirschsprung disease' SubClassOf 'Non-syndromic intestinal malformation' 'Hirschsprung disease' SubClassOf 'neurocristopathy' 'Hirschsprung disease' SubClassOf 'has modifier' some 'rare' 'Hirschsprung disease' SubClassOf 'Congenital intestinal motility disorder' 'Hirschsprung disease' SubClassOf 'intestinal motility disease' 'Hirschsprung disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_385 Neurodegeneration with brain iron accumulation 'Neurodegeneration with brain iron accumulation' SubClassOf 'Genetic dementia' 'Neurodegeneration with brain iron accumulation' SubClassOf 'iron metabolism disease' 'Neurodegeneration with brain iron accumulation' SubClassOf 'disease arises from feature' some 'neurodegenerative disease' 'Neurodegeneration with brain iron accumulation' SubClassOf 'disease has major feature' some 'dementia' 'Neurodegeneration with brain iron accumulation' SubClassOf 'Inborn errors of metabolism' 'Neurodegeneration with brain iron accumulation' SubClassOf 'Neurometabolic disease' 'Neurodegeneration with brain iron accumulation' SubClassOf 'neuroaxonal dystrophy' 'Neurodegeneration with brain iron accumulation' SubClassOf 'Genetic neurodegenerative disease' 'Neurodegeneration with brain iron accumulation' SubClassOf 'mineral metabolism disease' 'Neurodegeneration with brain iron accumulation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019052 'Neurodegeneration with brain iron accumulation' SubClassOf 'Genetic dementia' 'Neurodegeneration with brain iron accumulation' SubClassOf 'Neurometabolic disease' 'Neurodegeneration with brain iron accumulation' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_384 Palmoplantar keratoderma-sclerodactyly syndrome 'Palmoplantar keratoderma-sclerodactyly syndrome' SubClassOf 'Diffuse palmoplantar keratoderma' http://www.orpha.net/ORDO/Orphanet_183450 Genetic hair anomaly 'Genetic hair anomaly' SubClassOf 'hair anomaly' 'Genetic hair anomaly' SubClassOf 'Genetic epidermal appendage anomaly' 'Genetic hair anomaly' EquivalentTo 'hair anomaly' and ('has modifier' some 'inherited') 'Genetic hair anomaly' SubClassOf 'Genetic epidermal appendage anomaly' http://www.orpha.net/ORDO/Orphanet_383 X-linked mixed deafness with perilymphatic gusher 'X-linked mixed deafness with perilymphatic gusher' SubClassOf 'genetic otorhinolaryngologic disease' 'X-linked mixed deafness with perilymphatic gusher' SubClassOf 'X-linked nonsyndromic hearing loss' 'X-linked mixed deafness with perilymphatic gusher' SubClassOf 'inner ear disease' 'X-linked mixed deafness with perilymphatic gusher' SubClassOf 'Prelingual non-syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_217396 Progressive demyelinating neuropathy with bilateral striatal necrosis 'Progressive demyelinating neuropathy with bilateral striatal necrosis' SubClassOf 'thiamine-responsive dysfunction syndrome' 'Progressive demyelinating neuropathy with bilateral striatal necrosis' SubClassOf 'Genetic peripheral neuropathy' 'Progressive demyelinating neuropathy with bilateral striatal necrosis' SubClassOf 'Genetic peripheral neuropathy' http://www.orpha.net/ORDO/Orphanet_382 Guanidinoacetate methyltransferase deficiency 'Guanidinoacetate methyltransferase deficiency' SubClassOf 'cerebral creatine deficiency syndrome' 'Guanidinoacetate methyltransferase deficiency' SubClassOf 'Disorder of creatine biosynthesis' 'Guanidinoacetate methyltransferase deficiency' SubClassOf 'creatine biosynthetic process disease' 'Guanidinoacetate methyltransferase deficiency' SubClassOf 'Neurometabolic disease' 'Guanidinoacetate methyltransferase deficiency' SubClassOf 'cerebral creatine deficiency syndrome' 'Guanidinoacetate methyltransferase deficiency' SubClassOf 'Neurometabolic disease' http://www.orpha.net/ORDO/Orphanet_381 Griscelli disease 'Griscelli disease' SubClassOf 'Syndromic oculocutaneous albinism' 'Griscelli disease' SubClassOf 'Syndromic oculocutaneous albinism' http://www.orpha.net/ORDO/Orphanet_217390 Combined immunodeficiency due to DOCK8 deficiency 'Combined immunodeficiency due to DOCK8 deficiency' SubClassOf 'non-SCID combined immunodeficiency' 'Combined immunodeficiency due to DOCK8 deficiency' SubClassOf 'Combined T and B cell immunodeficiency' http://www.orpha.net/ORDO/Orphanet_380 Greig cephalopolysyndactyly syndrome 'Greig cephalopolysyndactyly syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Greig cephalopolysyndactyly syndrome' SubClassOf 'syndromic disease' 'Greig cephalopolysyndactyly syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_183454 Genetic nail anomaly 'Genetic nail anomaly' EquivalentTo 'nail anomaly' and ('has modifier' some 'inherited') 'Genetic nail anomaly' SubClassOf 'nail anomaly' 'Genetic nail anomaly' SubClassOf 'Genetic epidermal appendage anomaly' 'Genetic nail anomaly' SubClassOf 'Genetic epidermal appendage anomaly' http://www.orpha.net/ORDO/Orphanet_268987 Isolated focal cortical dysplasia type Ic 'Isolated focal cortical dysplasia type Ic' SubClassOf 'Isolated focal cortical dysplasia type I' 'Isolated focal cortical dysplasia type Ic' SubClassOf 'Isolated focal cortical dysplasia type I' http://www.orpha.net/ORDO/Orphanet_183447 Genetic epidermal appendage anomaly 'Genetic epidermal appendage anomaly' SubClassOf 'genetic skin disease' 'Genetic epidermal appendage anomaly' EquivalentTo 'epidermal appendage anomaly' and ('has modifier' some 'inherited') 'Genetic epidermal appendage anomaly' SubClassOf 'epidermal appendage anomaly' http://www.orpha.net/ORDO/Orphanet_217399 Congenital insensitivity to pain with hyperhidrosis 'Congenital insensitivity to pain with hyperhidrosis' SubClassOf 'congenital nervous system disorder' 'Congenital insensitivity to pain with hyperhidrosis' SubClassOf 'Hereditary sensory and autonomic neuropathy' 'Congenital insensitivity to pain with hyperhidrosis' SubClassOf 'Hereditary sensory and autonomic neuropathy' http://www.orpha.net/ORDO/Orphanet_268980 Isolated focal cortical dysplasia type Ib 'Isolated focal cortical dysplasia type Ib' SubClassOf 'Isolated focal cortical dysplasia type I' 'Isolated focal cortical dysplasia type Ib' SubClassOf 'Isolated focal cortical dysplasia type I' http://www.orpha.net/ORDO/Orphanet_254346 19p13.12 microdeletion syndrome '19p13.12 microdeletion syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 19' '19p13.12 microdeletion syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_254343 Autosomal recessive spastic ataxia - optic atrophy - dysarthria 'Autosomal recessive spastic ataxia - optic atrophy - dysarthria' SubClassOf 'Autosomal recessive spastic ataxia' 'Autosomal recessive spastic ataxia - optic atrophy - dysarthria' SubClassOf 'Autosomal recessive spastic ataxia' http://www.orpha.net/ORDO/Orphanet_399 Huntington disease 'Huntington disease' SubClassOf 'disease has feature' some 'dementia' 'Huntington disease' SubClassOf 'Genetic neurodegenerative disease with dementia' 'Huntington disease' SubClassOf 'disease has feature' some 'Oculomotor apraxia or related oculomotor disease' 'Huntington disease' SubClassOf 'Huntington disease and related disorders' 'Huntington disease' SubClassOf 'Neurodegenerative disease with chorea' 'Huntington disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_217382 Neurodegenerative syndrome due to cerebral folate transport deficiency 'Neurodegenerative syndrome due to cerebral folate transport deficiency' SubClassOf 'Disorder of folate metabolism and transport' 'Neurodegenerative syndrome due to cerebral folate transport deficiency' SubClassOf 'vitamin metabolic disorder' 'Neurodegenerative syndrome due to cerebral folate transport deficiency' SubClassOf 'Genetic neurodegenerative disease' 'Neurodegenerative syndrome due to cerebral folate transport deficiency' SubClassOf 'Disorder of folate metabolism and transport' 'Neurodegenerative syndrome due to cerebral folate transport deficiency' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_183460 Genetic sebaceous gland anomaly 'Genetic sebaceous gland anomaly' EquivalentTo 'sebaceous gland anomaly' and ('has modifier' some 'inherited') 'Genetic sebaceous gland anomaly' SubClassOf 'sebaceous gland anomaly' 'Genetic sebaceous gland anomaly' SubClassOf 'Genetic epidermal appendage anomaly' 'Genetic sebaceous gland anomaly' SubClassOf 'Genetic epidermal appendage anomaly' http://www.orpha.net/ORDO/Orphanet_395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency 'Homocystinuria due to methylene tetrahydrofolate reductase deficiency' SubClassOf 'homocystinuria' 'Homocystinuria due to methylene tetrahydrofolate reductase deficiency' SubClassOf 'Disorder of folate metabolism and transport' 'Homocystinuria due to methylene tetrahydrofolate reductase deficiency' SubClassOf 'Genetic peripheral neuropathy' 'Homocystinuria due to methylene tetrahydrofolate reductase deficiency' SubClassOf 'Disorder of folate metabolism and transport' http://www.orpha.net/ORDO/Orphanet_394 Classical homocystinuria 'Classical homocystinuria' SubClassOf 'Cerebral organic aciduria' 'Classical homocystinuria' SubClassOf 'Developmental anomaly of metabolic origin' 'Classical homocystinuria' SubClassOf 'Lens position anomaly' 'Classical homocystinuria' SubClassOf 'homocystinuria' 'Classical homocystinuria' SubClassOf 'Neurometabolic disease' 'Classical homocystinuria' SubClassOf 'Developmental anomaly of metabolic origin' 'Classical homocystinuria' SubClassOf 'Lens position anomaly' 'Classical homocystinuria' SubClassOf 'Disorder of methionine cycle and sulfur amino acid metabolism' 'Classical homocystinuria' SubClassOf 'Neurometabolic disease' http://www.orpha.net/ORDO/Orphanet_217385 17p13.3 microduplication syndrome '17p13.3 microduplication syndrome' SubClassOf 'Rare genetic neurological disorder' '17p13.3 microduplication syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '17p13.3 microduplication syndrome' SubClassOf 'Partial duplication of the short arm of chromosome 17' '17p13.3 microduplication syndrome' SubClassOf 'congenital nervous system disorder' '17p13.3 microduplication syndrome' SubClassOf 'syndromic intellectual disability' '17p13.3 microduplication syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '17p13.3 microduplication syndrome' SubClassOf 'Partial duplication of the short arm of chromosome 17' http://www.orpha.net/ORDO/Orphanet_393 46,XX testicular disorder of sex development '46,XX testicular disorder of sex development' SubClassOf 'Male infertility due to gonadal dysgenesis' '46,XX testicular disorder of sex development' SubClassOf '46,XX disorder of gonadal development' '46,XX testicular disorder of sex development' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_183463 Genetic pigmentation anomaly of the skin 'Genetic pigmentation anomaly of the skin' SubClassOf 'skin disease' 'Genetic pigmentation anomaly of the skin' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_392 Holt-Oram syndrome 'Holt-Oram syndrome' SubClassOf 'Heart-hand syndrome' 'Holt-Oram syndrome' SubClassOf 'Genetic cardiac rhythm disease' 'Holt-Oram syndrome' SubClassOf 'autosomal dominant disease' 'Holt-Oram syndrome' SubClassOf 'Rare syndrome with cardiac malformations' 'Holt-Oram syndrome' SubClassOf 'syndromic disease' 'Holt-Oram syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Holt-Oram syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_183466 Genetic hyperpigmentation of the skin 'Genetic hyperpigmentation of the skin' SubClassOf 'Genetic pigmentation anomaly of the skin' 'Genetic hyperpigmentation of the skin' SubClassOf 'Genetic pigmentation anomaly of the skin' http://www.orpha.net/ORDO/Orphanet_268973 Isolated focal cortical dysplasia type Ia 'Isolated focal cortical dysplasia type Ia' SubClassOf 'Isolated focal cortical dysplasia type I' 'Isolated focal cortical dysplasia type Ia' SubClassOf 'Isolated focal cortical dysplasia type I' http://www.orpha.net/ORDO/Orphanet_171445 Muscle filaminopathy 'Muscle filaminopathy' SubClassOf 'Qualitative or quantitative defects of filamin C' 'Muscle filaminopathy' SubClassOf 'Myofibrillar myopathy' 'Muscle filaminopathy' SubClassOf 'Qualitative or quantitative defects of filamin C' 'Muscle filaminopathy' SubClassOf 'Myofibrillar myopathy' http://www.orpha.net/ORDO/Orphanet_268961 Isolated focal cortical dysplasia type I 'Isolated focal cortical dysplasia type I' SubClassOf 'Isolated focal cortical dysplasia' 'Isolated focal cortical dysplasia type I' SubClassOf 'Isolated focal cortical dysplasia' http://www.orpha.net/ORDO/Orphanet_183435 Inherited ichthyosis 'Inherited ichthyosis' SubClassOf 'ichthyosis' 'Inherited ichthyosis' EquivalentTo 'ichthyosis' and ('has modifier' some 'inherited') 'Inherited ichthyosis' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_268950 Cerebral cortical dysplasia 'Cerebral cortical dysplasia' SubClassOf 'disease has feature' some 'structural epilepsy' 'Cerebral cortical dysplasia' SubClassOf 'cerebral malformation' http://purl.obolibrary.org/obo/MONDO_0042485 infective arthritis 'infective arthritis' SubClassOf 'arthritis' 'infective arthritis' SubClassOf 'arthritis' http://www.orpha.net/ORDO/Orphanet_183533 Genetic multiple congenital anomalies/dysmorphic syndrome 'Genetic multiple congenital anomalies/dysmorphic syndrome' SubClassOf 'has modifier' some 'rare' 'Genetic multiple congenital anomalies/dysmorphic syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome' 'Genetic multiple congenital anomalies/dysmorphic syndrome' EquivalentTo 'multiple congenital anomalies/dysmorphic syndrome' and ('has modifier' some 'inherited') http://www.orpha.net/ORDO/Orphanet_183539 Genetic renal or urinary tract malformation 'Genetic renal or urinary tract malformation' SubClassOf 'kidney disease' 'Genetic renal or urinary tract malformation' SubClassOf 'developmental defect during embryogenesis' 'Genetic renal or urinary tract malformation' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_404 Familial hyperaldosteronism type II 'Familial hyperaldosteronism type II' SubClassOf 'Familial hyperaldosteronism' 'Familial hyperaldosteronism type II' SubClassOf 'Genetic hyperaldosteronism' 'Familial hyperaldosteronism type II' SubClassOf 'adrenal/paraganglial tumor' 'Familial hyperaldosteronism type II' SubClassOf 'adrenal cortex neoplasm' 'Familial hyperaldosteronism type II' SubClassOf 'neoplasm' http://www.orpha.net/ORDO/Orphanet_403 Familial hyperaldosteronism type I 'Familial hyperaldosteronism type I' SubClassOf 'Genetic hyperaldosteronism' 'Familial hyperaldosteronism type I' SubClassOf 'Familial hyperaldosteronism' 'Familial hyperaldosteronism type I' SubClassOf 'Genetic hypertension' 'Familial hyperaldosteronism type I' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_183500 Genetic neurodegenerative disease 'Genetic neurodegenerative disease' SubClassOf 'Rare genetic neurological disorder' 'Genetic neurodegenerative disease' EquivalentTo 'neurodegenerative disease' and ('has modifier' some 'inherited') 'Genetic neurodegenerative disease' SubClassOf 'neurodegenerative disease' 'Genetic neurodegenerative disease' SubClassOf 'Rare genetic neurological disorder' 'Genetic neurodegenerative disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024237 http://www.orpha.net/ORDO/Orphanet_183503 Genetic central nervous system and retinal vascular disease 'Genetic central nervous system and retinal vascular disease' SubClassOf 'neurovascular disorder' 'Genetic central nervous system and retinal vascular disease' SubClassOf 'Rare genetic neurological disorder' 'Genetic central nervous system and retinal vascular disease' EquivalentTo 'disorder of central nervous system or retinal vasculature' and ('has modifier' some 'inherited') 'Genetic central nervous system and retinal vascular disease' SubClassOf 'disorder of central nervous system or retinal vasculature' 'Genetic central nervous system and retinal vascular disease' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_183509 Rare genetic headache 'Rare genetic headache' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.orpha.net/ORDO/Orphanet_415 Hyperornithinemia-hyperammonemia-homocitrullinuria 'Hyperornithinemia-hyperammonemia-homocitrullinuria' SubClassOf 'syndromic disease' 'Hyperornithinemia-hyperammonemia-homocitrullinuria' SubClassOf 'infectious disease' 'Hyperornithinemia-hyperammonemia-homocitrullinuria' SubClassOf 'urea cycle disorder' http://www.orpha.net/ORDO/Orphanet_414 Gyrate atrophy of choroid and retina 'Gyrate atrophy of choroid and retina' SubClassOf 'optic choroid disorder' 'Gyrate atrophy of choroid and retina' SubClassOf 'Genetic peripheral neuropathy' 'Gyrate atrophy of choroid and retina' SubClassOf 'neurovascular disorder' 'Gyrate atrophy of choroid and retina' SubClassOf 'Retinal dystrophy' 'Gyrate atrophy of choroid and retina' SubClassOf 'Disorder of ornithine metabolism' 'Gyrate atrophy of choroid and retina' SubClassOf 'Disorder of ornithine metabolism' http://www.orpha.net/ORDO/Orphanet_413 Hyperlipoproteinemia type 4 'Hyperlipoproteinemia type 4' SubClassOf 'familial hyperlipidemia' http://www.orpha.net/ORDO/Orphanet_412 Hyperlipoproteinemia type 3 'Hyperlipoproteinemia type 3' SubClassOf 'familial hyperlipidemia' http://www.orpha.net/ORDO/Orphanet_183521 Rare genetic movement disorder 'Rare genetic movement disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.orpha.net/ORDO/Orphanet_409 Hyperkeratosis lenticularis perstans 'Hyperkeratosis lenticularis perstans' SubClassOf 'epidermal disease' 'Hyperkeratosis lenticularis perstans' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_408 Isolated glycerol kinase deficiency 'Isolated glycerol kinase deficiency' EquivalentTo 'Glycerol kinase deficiency' and ('has modifier' some 'has an isolated presentation') 'Isolated glycerol kinase deficiency' SubClassOf 'has modifier' some 'has an isolated presentation' 'Isolated glycerol kinase deficiency' SubClassOf 'Glycerol kinase deficiency' 'Isolated glycerol kinase deficiency' SubClassOf 'Glycerol kinase deficiency' http://www.orpha.net/ORDO/Orphanet_407 Glycine encephalopathy 'Glycine encephalopathy' SubClassOf 'Neurometabolic disease' 'Glycine encephalopathy' SubClassOf 'Cerebral organic aciduria' 'Glycine encephalopathy' SubClassOf 'glycine metabolism disease' 'Glycine encephalopathy' SubClassOf 'Disorder of serine or glycine metabolism' 'Glycine encephalopathy' SubClassOf 'Neurometabolic disease' 'Glycine encephalopathy' SubClassOf 'Disorder of serine or glycine metabolism' http://www.orpha.net/ORDO/Orphanet_405 Familial hypocalciuric hypercalcemia 'Familial hypocalciuric hypercalcemia' SubClassOf 'hypercalcemia disease' 'Familial hypocalciuric hypercalcemia' SubClassOf 'endocrine system disease' 'Familial hypocalciuric hypercalcemia' SubClassOf 'Inborn errors of metabolism' 'Familial hypocalciuric hypercalcemia' SubClassOf 'interstitial lung disease specific to childhood' 'Familial hypocalciuric hypercalcemia' SubClassOf 'calcium metabolic disease' 'Familial hypocalciuric hypercalcemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019052 http://www.orpha.net/ORDO/Orphanet_425 Apolipoprotein A-I deficiency 'Apolipoprotein A-I deficiency' SubClassOf 'apolipoprotein A-I deficiency' 'Apolipoprotein A-I deficiency' SubClassOf 'Hypoalphalipoproteinemia' http://www.orpha.net/ORDO/Orphanet_424 Familial hyperthyroidism due to mutations in TSH receptor 'Familial hyperthyroidism due to mutations in TSH receptor' SubClassOf 'Hyperthyroidism' 'Familial hyperthyroidism due to mutations in TSH receptor' SubClassOf 'Genetic hypertension' 'Familial hyperthyroidism due to mutations in TSH receptor' SubClassOf 'Genetic hypertension' http://www.orpha.net/ORDO/Orphanet_423 Malignant hyperthermia 'Malignant hyperthermia' SubClassOf 'muscular channelopathy' http://www.orpha.net/ORDO/Orphanet_422 Idiopathic and/or familial pulmonary arterial hypertension 'Idiopathic and/or familial pulmonary arterial hypertension' SubClassOf 'primary pulmonary hypertension' 'Idiopathic and/or familial pulmonary arterial hypertension' SubClassOf 'idiopathic disease' 'Idiopathic and/or familial pulmonary arterial hypertension' SubClassOf 'pulmonary arterial hypertension' 'Idiopathic and/or familial pulmonary arterial hypertension' SubClassOf 'Genetic hypertension' 'Idiopathic and/or familial pulmonary arterial hypertension' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017148 http://www.orpha.net/ORDO/Orphanet_419 Hyperprolinemia type 1 'Hyperprolinemia type 1' SubClassOf 'hyperprolinemia' 'Hyperprolinemia type 1' SubClassOf 'Cerebral organic aciduria' 'Hyperprolinemia type 1' SubClassOf 'Neurometabolic disease' 'Hyperprolinemia type 1' SubClassOf 'Neurometabolic disease' 'Hyperprolinemia type 1' SubClassOf 'Disorder of proline metabolism' http://www.orpha.net/ORDO/Orphanet_418 Congenital adrenal hyperplasia 'Congenital adrenal hyperplasia' SubClassOf 'Adrenogenital syndrome' 'Congenital adrenal hyperplasia' SubClassOf 'Genetic chronic primary adrenal insufficiency' 'Congenital adrenal hyperplasia' SubClassOf 'steroid inherited metabolic disorder' 'Congenital adrenal hyperplasia' SubClassOf 'genetic endocrine growth disease' 'Congenital adrenal hyperplasia' SubClassOf 'Adrenogenital syndrome' 'Congenital adrenal hyperplasia' SubClassOf 'Genetic chronic primary adrenal insufficiency' http://www.orpha.net/ORDO/Orphanet_417 Neonatal severe primary hyperparathyroidism 'Neonatal severe primary hyperparathyroidism' SubClassOf 'Familial primary hyperparathyroidism' 'Neonatal severe primary hyperparathyroidism' SubClassOf 'Genetic hyperparathyroidism' http://www.orpha.net/ORDO/Orphanet_416 Primary hyperoxaluria 'Primary hyperoxaluria' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Primary hyperoxaluria' SubClassOf 'genetic disorder' 'Primary hyperoxaluria' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' http://www.orpha.net/ORDO/Orphanet_437 Hypophosphatemic rickets 'Hypophosphatemic rickets' SubClassOf 'rickets' http://www.orpha.net/ORDO/Orphanet_436 Hypophosphatasia 'Hypophosphatasia' SubClassOf 'autosomal dominant disease' 'Hypophosphatasia' SubClassOf 'Developmental anomaly of metabolic origin' 'Hypophosphatasia' SubClassOf 'Inborn errors of metabolism' 'Hypophosphatasia' SubClassOf 'Developmental anomaly of metabolic origin' http://www.orpha.net/ORDO/Orphanet_435 Ito hypomelanosis 'Ito hypomelanosis' SubClassOf 'Neurocutaneous syndrome with epilepsy' 'Ito hypomelanosis' SubClassOf 'Genetic hypopigmentation of the skin' 'Ito hypomelanosis' SubClassOf 'Pigmentation disorder with eye involvement, excluding albinism' 'Ito hypomelanosis' SubClassOf 'Ectodermal dysplasia syndrome' 'Ito hypomelanosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_432 Normosmic congenital hypogonadotropic hypogonadism 'Normosmic congenital hypogonadotropic hypogonadism' SubClassOf 'Isolated congenital hypogonadotropic hypogonadism' 'Normosmic congenital hypogonadotropic hypogonadism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_429 Hypochondroplasia 'Hypochondroplasia' SubClassOf 'osteochondrodysplasia' 'Hypochondroplasia' SubClassOf 'FGFR3-related chondrodysplasia' 'Hypochondroplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019685 http://www.orpha.net/ORDO/Orphanet_428 Autosomal dominant hypocalcemia 'Autosomal dominant hypocalcemia' SubClassOf 'calcium metabolic disease' 'Autosomal dominant hypocalcemia' SubClassOf 'autosomal dominant disease' 'Autosomal dominant hypocalcemia' SubClassOf 'Familial isolated hypoparathyroidism' 'Autosomal dominant hypocalcemia' SubClassOf 'Familial isolated hypoparathyroidism' http://www.orpha.net/ORDO/Orphanet_427 Familial hypoaldosteronism 'Familial hypoaldosteronism' SubClassOf 'has modifier' some 'rare' 'Familial hypoaldosteronism' SubClassOf 'hypoaldosteronism disease' http://www.orpha.net/ORDO/Orphanet_448 Hemophilia 'Hemophilia' SubClassOf 'coagulation protein disease' http://www.orpha.net/ORDO/Orphanet_447 Paroxysmal nocturnal hemoglobinuria 'Paroxysmal nocturnal hemoglobinuria' SubClassOf 'congenital hematological disorder' 'Paroxysmal nocturnal hemoglobinuria' SubClassOf 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' 'Paroxysmal nocturnal hemoglobinuria' SubClassOf 'Rare genetic hematologic disease' 'Paroxysmal nocturnal hemoglobinuria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_446 Neonatal hemochromatosis 'Neonatal hemochromatosis' SubClassOf 'has modifier' some 'rare' 'Neonatal hemochromatosis' SubClassOf 'hereditary hemochromatosis' 'Neonatal hemochromatosis' SubClassOf 'Disorder of iron metabolism and transport' http://www.orpha.net/ORDO/Orphanet_444 Marie Unna hereditary hypotrichosis 'Marie Unna hereditary hypotrichosis' SubClassOf 'Alopecia' 'Marie Unna hereditary hypotrichosis' SubClassOf 'genetic alopecia' 'Marie Unna hereditary hypotrichosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_442 Congenital hypothyroidism 'Congenital hypothyroidism' EquivalentTo 'hypothyroidism' and ('has modifier' some 'congenital') 'Congenital hypothyroidism' SubClassOf 'has modifier' some 'congenital' 'Congenital hypothyroidism' SubClassOf 'has modifier' some 'rare' 'Congenital hypothyroidism' SubClassOf 'hypothyroidism' http://www.orpha.net/ORDO/Orphanet_440 Familial hypospadias 'Familial hypospadias' SubClassOf 'Genetic urogenital tract malformation' 'Familial hypospadias' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_217330 Hyperuricemia - anemia - renal failure 'Hyperuricemia - anemia - renal failure' SubClassOf 'familial juvenile hyperuricemic nephropathy' 'Hyperuricemia - anemia - renal failure' SubClassOf 'Genetic renal tubular disease' 'Hyperuricemia - anemia - renal failure' SubClassOf 'Genetic renal tubular disease' http://www.orpha.net/ORDO/Orphanet_217335 MACS syndrome 'MACS syndrome' SubClassOf 'inherited cutis laxa' http://www.orpha.net/ORDO/Orphanet_457 Harlequin ichthyosis 'Harlequin ichthyosis' SubClassOf 'autosomal recessive congenital ichthyosis 4A' 'Harlequin ichthyosis' SubClassOf 'Autosomal recessive congenital ichthyosis' http://www.orpha.net/ORDO/Orphanet_455 Superficial epidermolytic ichthyosis 'Superficial epidermolytic ichthyosis' SubClassOf 'Exfoliative ichthyosis' 'Superficial epidermolytic ichthyosis' SubClassOf 'Keratinopathic ichthyosis' 'Superficial epidermolytic ichthyosis' SubClassOf 'Keratinopathic ichthyosis' http://www.orpha.net/ORDO/Orphanet_452 X-linked lissencephaly with abnormal genitalia 'X-linked lissencephaly with abnormal genitalia' SubClassOf 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' 'X-linked lissencephaly with abnormal genitalia' SubClassOf 'Syndrome with 46,XY disorder of sex development' 'X-linked lissencephaly with abnormal genitalia' SubClassOf 'Lissencephaly' 'X-linked lissencephaly with abnormal genitalia' SubClassOf 'ARX-related encephalopathy-brain malformation spectrum' 'X-linked lissencephaly with abnormal genitalia' SubClassOf 'Other syndrome with lissencephaly as a major feature' 'X-linked lissencephaly with abnormal genitalia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_293899 Familial isolated arrhythmogenic ventricular dysplasia, biventricular form 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form' SubClassOf 'Familial isolated arrhythmogenic right ventricular dysplasia' 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form' SubClassOf 'Familial isolated arrhythmogenic right ventricular dysplasia' http://purl.obolibrary.org/obo/HP_0003826 Stillbirth 'Stillbirth' SubClassOf 'age at death' 'Stillbirth' SubClassOf http://purl.obolibrary.org/obo/HP_0034241 http://www.orpha.net/ORDO/Orphanet_93571 Dense deposit disease 'Dense deposit disease' SubClassOf 'Non-immunoglobulin-mediated membranoproliferative glomerulonephritis' 'Dense deposit disease' SubClassOf 'Non-immunoglobulin-mediated membranoproliferative glomerulonephritis' http://purl.obolibrary.org/obo/MONDO_0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 'microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability' SubClassOf 'disease has feature' some 'Retinal dystrophy' 'microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability' SubClassOf 'Retinal dystrophy' 'microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability' SubClassOf 'Milroy disease' 'microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability' SubClassOf 'Syndromic lymphedema' 'microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019118 'microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019520 'microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019313 'microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/MONDO_0019118 http://www.orpha.net/ORDO/Orphanet_93579 Atypical hemolytic-uremic syndrome with H factor anomaly 'Atypical hemolytic-uremic syndrome with H factor anomaly' SubClassOf 'hemolytic uremic syndrome, atypical, susceptibility to, 1' 'Atypical hemolytic-uremic syndrome with H factor anomaly' SubClassOf 'Atypical hemolytic-uremic syndrome' 'Atypical hemolytic-uremic syndrome with H factor anomaly' SubClassOf 'Atypical hemolytic-uremic syndrome' http://www.orpha.net/ORDO/Orphanet_93578 Atypical hemolytic-uremic syndrome with B factor anomaly 'Atypical hemolytic-uremic syndrome with B factor anomaly' SubClassOf 'Atypical hemolytic-uremic syndrome' 'Atypical hemolytic-uremic syndrome with B factor anomaly' SubClassOf 'Atypical hemolytic-uremic syndrome' http://www.orpha.net/ORDO/Orphanet_93576 Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly 'Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly' SubClassOf 'Atypical hemolytic-uremic syndrome' 'Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly' SubClassOf 'Atypical hemolytic-uremic syndrome' http://www.orpha.net/ORDO/Orphanet_93575 Atypical hemolytic-uremic syndrome with C3 anomaly 'Atypical hemolytic-uremic syndrome with C3 anomaly' SubClassOf 'Atypical hemolytic-uremic syndrome' 'Atypical hemolytic-uremic syndrome with C3 anomaly' SubClassOf 'Atypical hemolytic-uremic syndrome' http://www.orpha.net/ORDO/Orphanet_293864 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome 'Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome' SubClassOf 'Syndromic visceral malformation' 'Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome' SubClassOf 'Syndromic intestinal malformation' 'Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome' SubClassOf 'Syndromic visceral malformation' 'Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome' SubClassOf 'Syndromic intestinal malformation' http://www.orpha.net/ORDO/Orphanet_93583 Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency 'Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency' SubClassOf 'Genetic thrombotic microangiopathy' 'Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93581 Atypical hemolytic-uremic syndrome with anti-factor H antibodies 'Atypical hemolytic-uremic syndrome with anti-factor H antibodies' SubClassOf 'Atypical hemolytic-uremic syndrome' 'Atypical hemolytic-uremic syndrome with anti-factor H antibodies' SubClassOf 'hemolytic uremic syndrome, atypical, susceptibility to, 1' 'Atypical hemolytic-uremic syndrome with anti-factor H antibodies' SubClassOf 'Atypical hemolytic-uremic syndrome' http://www.orpha.net/ORDO/Orphanet_93580 Atypical hemolytic-uremic syndrome with I factor anomaly 'Atypical hemolytic-uremic syndrome with I factor anomaly' SubClassOf 'Atypical hemolytic-uremic syndrome' 'Atypical hemolytic-uremic syndrome with I factor anomaly' SubClassOf 'Atypical hemolytic-uremic syndrome' http://www.orpha.net/ORDO/Orphanet_93589 Late-onset nephronophthisis 'Late-onset nephronophthisis' SubClassOf 'Nephronophthisis' 'Late-onset nephronophthisis' SubClassOf 'Nephronophthisis' http://www.orpha.net/ORDO/Orphanet_93587 Familial cystic renal disease 'Familial cystic renal disease' SubClassOf 'Cystic Kidney Disease' 'Familial cystic renal disease' EquivalentTo 'Cystic Kidney Disease' and ('has modifier' some 'inherited') 'Familial cystic renal disease' SubClassOf 'has modifier' some 'rare' 'Familial cystic renal disease' SubClassOf 'kidney disease' http://www.orpha.net/ORDO/Orphanet_93593 Nephropathy secondary to a storage or other metabolic disease 'Nephropathy secondary to a storage or other metabolic disease' SubClassOf 'kidney disease' 'Nephropathy secondary to a storage or other metabolic disease' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_93592 Juvenile nephronophthisis 'Juvenile nephronophthisis' SubClassOf 'nephropathy-associated ciliopathy' 'Juvenile nephronophthisis' SubClassOf 'syndromic disease' 'Juvenile nephronophthisis' SubClassOf 'Nephronophthisis' 'Juvenile nephronophthisis' SubClassOf 'Nephronophthisis' http://www.orpha.net/ORDO/Orphanet_93591 Infantile nephronophthisis 'Infantile nephronophthisis' SubClassOf 'Nephronophthisis' 'Infantile nephronophthisis' SubClassOf 'Nephronophthisis' http://www.orpha.net/ORDO/Orphanet_268882 Arnold-Chiari malformation type I 'Arnold-Chiari malformation type I' SubClassOf 'Chiari malformation' 'Arnold-Chiari malformation type I' SubClassOf 'Neural tube defect' http://www.orpha.net/ORDO/Orphanet_93599 Primary hyperoxaluria type 2 'Primary hyperoxaluria type 2' SubClassOf 'Primary hyperoxaluria' 'Primary hyperoxaluria type 2' SubClassOf 'Primary hyperoxaluria' http://www.orpha.net/ORDO/Orphanet_93598 Primary hyperoxaluria type 1 'Primary hyperoxaluria type 1' SubClassOf 'alanine glyoxylate aminotransferase deficiency' 'Primary hyperoxaluria type 1' SubClassOf 'Primary hyperoxaluria' 'Primary hyperoxaluria type 1' SubClassOf 'Disorder of peroxisomal alpha-, beta- and omega-oxidation' 'Primary hyperoxaluria type 1' SubClassOf 'Primary hyperoxaluria' 'Primary hyperoxaluria type 1' SubClassOf 'Peroxisomal disease' http://www.orpha.net/ORDO/Orphanet_293888 Familial isolated arrhythmogenic ventricular dysplasia, left dominant form 'Familial isolated arrhythmogenic ventricular dysplasia, left dominant form' SubClassOf 'Familial isolated arrhythmogenic right ventricular dysplasia' 'Familial isolated arrhythmogenic ventricular dysplasia, left dominant form' SubClassOf 'Familial isolated arrhythmogenic right ventricular dysplasia' http://purl.obolibrary.org/obo/MONDO_0032914 ciliary dyskinesia, primary, 44 'ciliary dyskinesia, primary, 44' SubClassOf 'Primary ciliary dyskinesia' 'ciliary dyskinesia, primary, 44' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016575 http://purl.obolibrary.org/obo/MONDO_0032915 long QT syndrome 16 'long QT syndrome 16' SubClassOf 'Catecholaminergic polymorphic ventricular tachycardia' 'long QT syndrome 16' SubClassOf 'Familial long QT syndrome' 'long QT syndrome 16' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019171 'long QT syndrome 16' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017990 http://purl.obolibrary.org/obo/MONDO_0032912 Coffin-Siris syndrome 11 'Coffin-Siris syndrome 11' SubClassOf 'Coffin-Siris syndrome' 'Coffin-Siris syndrome 11' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015452 http://purl.obolibrary.org/obo/MONDO_0032919 intellectual developmental disorder 62 'intellectual developmental disorder 62' SubClassOf 'Autosomal dominant non-syndromic intellectual disability' 'intellectual developmental disorder 62' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015802 http://purl.obolibrary.org/obo/MONDO_0020937 contractures, pterygia, and variable skeletal fusions syndrome 'contractures, pterygia, and variable skeletal fusions syndrome' SubClassOf 'Multiple pterygium syndrome' 'contractures, pterygia, and variable skeletal fusions syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017415 'contractures, pterygia, and variable skeletal fusions syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0032903 arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum 'arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum' SubClassOf 'Arthrogryposis multiplex congenita' 'arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015168 http://purl.obolibrary.org/obo/MONDO_0032904 corneal dystrophy, Meesmann, 2 'corneal dystrophy, Meesmann, 2' SubClassOf 'Meesmann corneal dystrophy' 'corneal dystrophy, Meesmann, 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0007379 http://purl.obolibrary.org/obo/MONDO_0032902 Joubert syndrome 36 'Joubert syndrome 36' SubClassOf 'Joubert syndrome' 'Joubert syndrome 36' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018772 http://purl.obolibrary.org/obo/MONDO_0005301 multiple sclerosis 'multiple sclerosis' SubClassOf 'demyelinating disease' 'multiple sclerosis' SubClassOf 'demyelinating disease' http://purl.obolibrary.org/obo/MONDO_0032900 neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements 'neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements' SubClassOf 'Rare genetic neurological disorder' 'neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://purl.obolibrary.org/obo/MONDO_0032907 lymphatic malformation 8 'lymphatic malformation 8' SubClassOf 'Milroy disease' 'lymphatic malformation 8' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019313 http://purl.obolibrary.org/obo/MONDO_0032905 spastic paraplegia 81, autosomal recessive 'spastic paraplegia 81, autosomal recessive' SubClassOf 'Hereditary spastic paraplegia' 'spastic paraplegia 81, autosomal recessive' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019064 http://purl.obolibrary.org/obo/MONDO_0032906 spastic paraplegia 82, autosomal recessive 'spastic paraplegia 82, autosomal recessive' SubClassOf 'Hereditary spastic paraplegia' 'spastic paraplegia 82, autosomal recessive' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019064 http://www.orpha.net/ORDO/Orphanet_293822 MITF-related melanoma and renal cell carcinoma predisposition syndrome 'MITF-related melanoma and renal cell carcinoma predisposition syndrome' SubClassOf 'familial cutaneous melanoma' 'MITF-related melanoma and renal cell carcinoma predisposition syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' 'MITF-related melanoma and renal cell carcinoma predisposition syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' http://www.orpha.net/ORDO/Orphanet_293825 Congenital dyserythropoietic anemia type IV 'Congenital dyserythropoietic anemia type IV' SubClassOf 'Congenital dyserythropoietic anemia' 'Congenital dyserythropoietic anemia type IV' SubClassOf 'congenital anemia' 'Congenital dyserythropoietic anemia type IV' SubClassOf 'Congenital dyserythropoietic anemia' http://purl.obolibrary.org/obo/MONDO_0020927 postaxial polydactyly 'postaxial polydactyly' SubClassOf 'Polydactyly' 'postaxial polydactyly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0011348 http://www.orpha.net/ORDO/Orphanet_93547 Syndromic renal or urinary tract malformation 'Syndromic renal or urinary tract malformation' SubClassOf 'kidney disease' 'Syndromic renal or urinary tract malformation' SubClassOf 'Genetic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0032932 mitochondrial DNA depletion syndrome 18 'mitochondrial DNA depletion syndrome 18' SubClassOf 'Mitochondrial DNA depletion syndrome' 'mitochondrial DNA depletion syndrome 18' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018158 http://purl.obolibrary.org/obo/MONDO_0032938 basal ganglia calcification, idiopathic, 8, autosomal recessive 'basal ganglia calcification, idiopathic, 8, autosomal recessive' SubClassOf 'Bilateral striopallidodentate calcinosis' 'basal ganglia calcification, idiopathic, 8, autosomal recessive' SubClassOf http://purl.obolibrary.org/obo/MONDO_0008947 http://purl.obolibrary.org/obo/MONDO_0032939 intellectual developmental disorder, autosomal dominant 63, with macrocephaly 'intellectual developmental disorder, autosomal dominant 63, with macrocephaly' SubClassOf 'Autosomal dominant non-syndromic intellectual disability' 'intellectual developmental disorder, autosomal dominant 63, with macrocephaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015802 http://www.orpha.net/ORDO/Orphanet_293830 Constitutional dyserythropoietic anemia 'Constitutional dyserythropoietic anemia' SubClassOf 'anemia' http://www.orpha.net/ORDO/Orphanet_93550 Basement membrane disease 'Basement membrane disease' SubClassOf 'glomerular disease' http://purl.obolibrary.org/obo/MONDO_0032923 spinocerebellar ataxia, autosomal recessive 28 'spinocerebellar ataxia, autosomal recessive 28' SubClassOf 'Autosomal recessive cerebellar ataxia' 'spinocerebellar ataxia, autosomal recessive 28' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015244 http://purl.obolibrary.org/obo/MONDO_0032924 ciliary dyskinesia, primary, 45 'ciliary dyskinesia, primary, 45' SubClassOf 'Primary ciliary dyskinesia' 'ciliary dyskinesia, primary, 45' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016575 http://purl.obolibrary.org/obo/MONDO_0032921 neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation 'neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation' SubClassOf 'Rare genetic neurological disorder' 'neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.orpha.net/ORDO/Orphanet_293843 Craniofacial-ulnar-renal syndrome 'Craniofacial-ulnar-renal syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Craniofacial-ulnar-renal syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Craniofacial-ulnar-renal syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_293848 Right temporal lobar atrophy 'Right temporal lobar atrophy' SubClassOf 'Semantic dementia' 'Right temporal lobar atrophy' SubClassOf 'Frontotemporal dementia' http://www.orpha.net/ORDO/Orphanet_93562 Familial renal amyloidosis due to fibrinogen A alpha-chain variant 'Familial renal amyloidosis due to fibrinogen A alpha-chain variant' SubClassOf 'Familial renal amyloidosis' 'Familial renal amyloidosis due to fibrinogen A alpha-chain variant' SubClassOf 'Familial renal amyloidosis' http://www.orpha.net/ORDO/Orphanet_93561 Familial renal amyloidosis due to lysozyme variant 'Familial renal amyloidosis due to lysozyme variant' SubClassOf 'Familial renal amyloidosis' 'Familial renal amyloidosis due to lysozyme variant' SubClassOf 'Familial renal amyloidosis' http://www.orpha.net/ORDO/Orphanet_93560 Familial renal amyloidosis due to Apolipoprotein AI variant 'Familial renal amyloidosis due to Apolipoprotein AI variant' SubClassOf 'Familial renal amyloidosis' 'Familial renal amyloidosis due to Apolipoprotein AI variant' SubClassOf 'Familial renal amyloidosis' http://www.orpha.net/ORDO/Orphanet_226 Dihydropteridine reductase deficiency 'Dihydropteridine reductase deficiency' SubClassOf 'tetrahydrobiopterin metabolic process disease' 'Dihydropteridine reductase deficiency' SubClassOf 'Hyperphenylalaninemia' 'Dihydropteridine reductase deficiency' SubClassOf 'Hyperphenylalaninemia' http://www.orpha.net/ORDO/Orphanet_225 Maternally-inherited diabetes and deafness 'Maternally-inherited diabetes and deafness' SubClassOf 'diabetes mellitus' 'Maternally-inherited diabetes and deafness' SubClassOf 'Syndromic genetic deafness' 'Maternally-inherited diabetes and deafness' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_224 Neonatal diabetes mellitus 'Neonatal diabetes mellitus' SubClassOf 'diabetes mellitus' 'Neonatal diabetes mellitus' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_223 Nephrogenic diabetes insipidus 'Nephrogenic diabetes insipidus' SubClassOf 'Genetic renal tubular disease' 'Nephrogenic diabetes insipidus' SubClassOf 'diabetes insipidus' 'Nephrogenic diabetes insipidus' SubClassOf 'impaired renal function disease' 'Nephrogenic diabetes insipidus' SubClassOf 'Genetic renal tubular disease' http://www.orpha.net/ORDO/Orphanet_220 Denys-Drash syndrome 'Denys-Drash syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Denys-Drash syndrome' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' 'Denys-Drash syndrome' SubClassOf 'Syndrome with 46,XY disorder of sex development' 'Denys-Drash syndrome' SubClassOf 'Primary glomerular disease' 'Denys-Drash syndrome' SubClassOf 'autosomal dominant disease' 'Denys-Drash syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_268817 Cephalocele 'Cephalocele' SubClassOf 'Neural tube closure defect' 'Cephalocele' SubClassOf 'congenital nervous system disorder' 'Cephalocele' SubClassOf 'Neural tube closure defect' http://purl.obolibrary.org/obo/HP_0001257 Spasticity 'Spasticity' SubClassOf 'Abnormality of movement' http://www.orpha.net/ORDO/Orphanet_268820 Cranial meningocele 'Cranial meningocele' SubClassOf 'meningocele' 'Cranial meningocele' SubClassOf 'brain disease' 'Cranial meningocele' SubClassOf 'Cephalocele' 'Cranial meningocele' SubClassOf 'Cephalocele' http://www.orpha.net/ORDO/Orphanet_268826 Parietal encephalocele 'Parietal encephalocele' SubClassOf 'Isolated encephalocele' 'Parietal encephalocele' SubClassOf 'Isolated encephalocele' http://www.orpha.net/ORDO/Orphanet_268823 Occipital encephalocele 'Occipital encephalocele' SubClassOf 'Isolated encephalocele' 'Occipital encephalocele' SubClassOf 'Isolated encephalocele' http://www.orpha.net/ORDO/Orphanet_219 Autosomal recessive limb-girdle muscular dystrophy type 2F 'Autosomal recessive limb-girdle muscular dystrophy type 2F' SubClassOf 'Qualitative or quantitative defects of delta-sarcoglycan' 'Autosomal recessive limb-girdle muscular dystrophy type 2F' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2F' SubClassOf 'Qualitative or quantitative defects of delta-sarcoglycan' 'Autosomal recessive limb-girdle muscular dystrophy type 2F' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' http://www.orpha.net/ORDO/Orphanet_218 Darier disease 'Darier disease' SubClassOf 'has_disease_location' some 'zone of skin' 'Darier disease' SubClassOf 'genetic skin disease' 'Darier disease' SubClassOf 'epidermal disease' 'Darier disease' SubClassOf 'Other genetic epidermal disease' 'Darier disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_239 Dyggve-Melchior-Clausen disease 'Dyggve-Melchior-Clausen disease' SubClassOf 'syndromic disease' 'Dyggve-Melchior-Clausen disease' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Dyggve-Melchior-Clausen disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_238 Digestive duplication 'Digestive duplication' SubClassOf 'Non-syndromic intestinal malformation' 'Digestive duplication' SubClassOf 'Non-syndromic intestinal malformation' http://www.orpha.net/ORDO/Orphanet_237 Duplication of urethra 'Duplication of urethra' SubClassOf 'non-syndromic urogenital tract malformation of male and female' 'Duplication of urethra' SubClassOf 'Genetic non-syndromic renal or urinary tract malformation' 'Duplication of urethra' SubClassOf 'Genetic non-syndromic renal or urinary tract malformation' http://www.orpha.net/ORDO/Orphanet_236 Trisomy 9p 'Trisomy 9p' SubClassOf 'Partial trisomy of the short arm of chromosome 9' 'Trisomy 9p' SubClassOf 'Partial trisomy of the short arm of chromosome 9' http://purl.obolibrary.org/obo/MONDO_0032943 neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies 'neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies' SubClassOf 'Rare genetic neurological disorder' 'neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.orpha.net/ORDO/Orphanet_235 Dubowitz syndrome 'Dubowitz syndrome' SubClassOf 'Eyelids malposition disorder' 'Dubowitz syndrome' SubClassOf 'syndromic intellectual disability' 'Dubowitz syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Dubowitz syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'Dubowitz syndrome' SubClassOf 'Ptosis' 'Dubowitz syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Dubowitz syndrome' SubClassOf 'congenital nervous system disorder' 'Dubowitz syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Dubowitz syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_234 Dubin-Johnson syndrome 'Dubin-Johnson syndrome' SubClassOf 'syndromic disease' 'Dubin-Johnson syndrome' SubClassOf 'has modifier' some 'rare' 'Dubin-Johnson syndrome' SubClassOf 'Rare metabolic liver disease' 'Dubin-Johnson syndrome' SubClassOf 'hereditary hyperbilirubinemia' 'Dubin-Johnson syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_233 Duane retraction syndrome 'Duane retraction syndrome' SubClassOf 'Syndrome with a symptomatic strabismus' 'Duane retraction syndrome' SubClassOf 'Nuclear oculomotor paralysis' 'Duane retraction syndrome' SubClassOf 'Cranial nerve and nuclear aplasia' 'Duane retraction syndrome' SubClassOf 'syndromic disease' 'Duane retraction syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0032942 neurodevelopmental disorder with microcephaly and dysmorphic facies 'neurodevelopmental disorder with microcephaly and dysmorphic facies' SubClassOf 'Rare genetic neurological disorder' 'neurodevelopmental disorder with microcephaly and dysmorphic facies' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.orpha.net/ORDO/Orphanet_232 Sickle cell anemia 'Sickle cell anemia' SubClassOf 'Sickle cell disease and related diseases' 'Sickle cell anemia' SubClassOf 'autosomal recessive disease' 'Sickle cell anemia' SubClassOf 'Congenital hypogonadotropic hypogonadism' 'Sickle cell anemia' SubClassOf 'secondary avascular necrosis' 'Sickle cell anemia' SubClassOf 'Avascular necrosis of genetic origin' 'Sickle cell anemia' SubClassOf 'Sickle cell disease and related diseases' 'Sickle cell anemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017143 'Sickle cell anemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018383 'Sickle cell anemia' SubClassOf 'male infertility' http://www.orpha.net/ORDO/Orphanet_230 Dopamine beta-hydroxylase deficiency 'Dopamine beta-hydroxylase deficiency' SubClassOf 'Neurometabolic disease' 'Dopamine beta-hydroxylase deficiency' SubClassOf 'Disorder of catecholamine synthesis' 'Dopamine beta-hydroxylase deficiency' SubClassOf 'Eyelids malposition disorder' 'Dopamine beta-hydroxylase deficiency' SubClassOf 'inherited orthostatic hypotension' 'Dopamine beta-hydroxylase deficiency' SubClassOf 'Neurometabolic disease' 'Dopamine beta-hydroxylase deficiency' SubClassOf 'Disorder of catecholamine synthesis' http://www.orpha.net/ORDO/Orphanet_268810 Posterior meningocele 'Posterior meningocele' SubClassOf 'Spina bifida cystica' 'Posterior meningocele' SubClassOf 'Spina bifida cystica' http://www.orpha.net/ORDO/Orphanet_268813 Myelocystocele 'Myelocystocele' SubClassOf 'Spina bifida cystica' 'Myelocystocele' SubClassOf 'Spina bifida cystica' http://purl.obolibrary.org/obo/MONDO_0032940 retinitis pigmentosa 88 'retinitis pigmentosa 88' SubClassOf 'Retinitis pigmentosa' 'retinitis pigmentosa 88' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019200 http://www.orpha.net/ORDO/Orphanet_229 Familial aortic dissection 'Familial aortic dissection' SubClassOf 'Rare disease with thoracic aortic aneurysm and aortic dissection' 'Familial aortic dissection' SubClassOf 'aortic disease' 'Familial aortic dissection' SubClassOf 'has_disease_location' some 'aorta' 'Familial aortic dissection' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_249 Fibrous dysplasia of bone 'Fibrous dysplasia of bone' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Fibrous dysplasia of bone' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_248 Autosomal recessive hypohidrotic ectodermal dysplasia 'Autosomal recessive hypohidrotic ectodermal dysplasia' SubClassOf 'autosomal recessive disease' 'Autosomal recessive hypohidrotic ectodermal dysplasia' SubClassOf 'Hypohidrotic ectodermal dysplasia' 'Autosomal recessive hypohidrotic ectodermal dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016535 http://www.orpha.net/ORDO/Orphanet_247 Arrhythmogenic right ventricular dysplasia 'Arrhythmogenic right ventricular dysplasia' SubClassOf 'familial cardiomyopathy' 'Arrhythmogenic right ventricular dysplasia' SubClassOf 'intrinsic cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_246 Postaxial acrofacial dysostosis 'Postaxial acrofacial dysostosis' SubClassOf 'Acrofacial dysostosis' 'Postaxial acrofacial dysostosis' SubClassOf 'Secondary ectropion' 'Postaxial acrofacial dysostosis' SubClassOf 'Syndromic palpebral coloboma' 'Postaxial acrofacial dysostosis' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Postaxial acrofacial dysostosis' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Postaxial acrofacial dysostosis' SubClassOf 'Acrofacial dysostosis' 'Postaxial acrofacial dysostosis' SubClassOf 'Secondary ectropion' 'Postaxial acrofacial dysostosis' SubClassOf 'Syndromic palpebral coloboma' 'Postaxial acrofacial dysostosis' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Postaxial acrofacial dysostosis' SubClassOf 'Genetic branchial arch or oral-acral syndrome' http://www.orpha.net/ORDO/Orphanet_245 Nager syndrome 'Nager syndrome' SubClassOf 'Acrofacial dysostosis' 'Nager syndrome' SubClassOf 'Syndromic palpebral coloboma' 'Nager syndrome' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Nager syndrome' SubClassOf 'Malposition of external canthus' 'Nager syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Nager syndrome' SubClassOf 'Acrofacial dysostosis' 'Nager syndrome' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Nager syndrome' SubClassOf 'Syndromic palpebral coloboma' 'Nager syndrome' SubClassOf 'Malposition of external canthus' 'Nager syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_244 Primary ciliary dyskinesia 'Primary ciliary dyskinesia' SubClassOf 'has modifier' some 'rare' 'Primary ciliary dyskinesia' SubClassOf 'ciliopathy' 'Primary ciliary dyskinesia' SubClassOf 'syndromic disease' 'Primary ciliary dyskinesia' SubClassOf 'respiratory system disease' 'Primary ciliary dyskinesia' SubClassOf 'ciliopathy' http://www.orpha.net/ORDO/Orphanet_243 46,XX gonadal dysgenesis '46,XX gonadal dysgenesis' SubClassOf '46,XX disorder of gonadal development' '46,XX gonadal dysgenesis' SubClassOf 'Non-acquired premature ovarian failure' '46,XX gonadal dysgenesis' SubClassOf 'gonadal dysgenesis' '46,XX gonadal dysgenesis' SubClassOf 'female infertility' '46,XX gonadal dysgenesis' SubClassOf 'Non-acquired premature ovarian failure' '46,XX gonadal dysgenesis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017961 http://www.orpha.net/ORDO/Orphanet_242 46,XY complete gonadal dysgenesis '46,XY complete gonadal dysgenesis' SubClassOf 'Milroy disease' '46,XY complete gonadal dysgenesis' SubClassOf 'Syndromic lymphedema' '46,XY complete gonadal dysgenesis' SubClassOf 'Gonadal dysgenesis of gynecological interest' '46,XY complete gonadal dysgenesis' SubClassOf '46,XY disorder of gonadal development' '46,XY complete gonadal dysgenesis' SubClassOf 'gonadal dysgenesis' '46,XY complete gonadal dysgenesis' SubClassOf 'Syndrome associated with hypertrophic cardiomyopathy' '46,XY complete gonadal dysgenesis' SubClassOf 'familial hypertrophic cardiomyopathy' '46,XY complete gonadal dysgenesis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_241 Dyschromatosis universalis 'Dyschromatosis universalis' SubClassOf 'pigmentation disease' 'Dyschromatosis universalis' SubClassOf 'Genetic hyperpigmentation of the skin' 'Dyschromatosis universalis' SubClassOf 'Genetic hyperpigmentation of the skin' http://www.orpha.net/ORDO/Orphanet_240 Léri-Weill dyschondrosteosis 'Léri-Weill dyschondrosteosis' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' 'Léri-Weill dyschondrosteosis' SubClassOf 'osteochondrodysplasia' 'Léri-Weill dyschondrosteosis' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' http://www.orpha.net/ORDO/Orphanet_258 Congenital muscular dystrophy type 1A 'Congenital muscular dystrophy type 1A' SubClassOf 'LAMA2-related muscular dystrophy' 'Congenital muscular dystrophy type 1A' SubClassOf 'Congenital muscular dystrophy' 'Congenital muscular dystrophy type 1A' SubClassOf 'Congenital muscular dystrophy' 'Congenital muscular dystrophy type 1A' SubClassOf 'Qualitative or quantitative defects of merosin' http://www.orpha.net/ORDO/Orphanet_257 Epidermolysis bullosa simplex with muscular dystrophy 'Epidermolysis bullosa simplex with muscular dystrophy' SubClassOf 'Qualitative or quantitative defects of plectin' 'Epidermolysis bullosa simplex with muscular dystrophy' SubClassOf 'syndromic disease' 'Epidermolysis bullosa simplex with muscular dystrophy' SubClassOf 'Basal epidermolysis bullosa simplex' 'Epidermolysis bullosa simplex with muscular dystrophy' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Epidermolysis bullosa simplex with muscular dystrophy' SubClassOf 'Qualitative or quantitative defects of plectin' 'Epidermolysis bullosa simplex with muscular dystrophy' SubClassOf 'Basal epidermolysis bullosa simplex' 'Epidermolysis bullosa simplex with muscular dystrophy' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' http://www.orpha.net/ORDO/Orphanet_256 Early-onset generalized limb-onset dystonia 'Early-onset generalized limb-onset dystonia' SubClassOf 'early-onset generalized dystonia' 'Early-onset generalized limb-onset dystonia' SubClassOf 'Generalized isolated dystonia' http://www.orpha.net/ORDO/Orphanet_255 Dopa-responsive dystonia 'Dopa-responsive dystonia' SubClassOf 'Persistent combined dystonia' 'Dopa-responsive dystonia' SubClassOf 'Neurometabolic disease' 'Dopa-responsive dystonia' SubClassOf 'Persistent combined dystonia' 'Dopa-responsive dystonia' SubClassOf 'Neurometabolic disease' http://www.orpha.net/ORDO/Orphanet_254 Spondylometaphyseal dysplasia 'Spondylometaphyseal dysplasia' SubClassOf 'Primary bone dysplasia' 'Spondylometaphyseal dysplasia' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_253 Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' SubClassOf 'osteochondrodysplasia' 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' SubClassOf 'Primary bone dysplasia' 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_251 Multiple epiphyseal dysplasia 'Multiple epiphyseal dysplasia' SubClassOf 'Multiple epiphyseal dysplasia and pseudoachondroplasia' 'Multiple epiphyseal dysplasia' SubClassOf 'osteochondrodysplasia' 'Multiple epiphyseal dysplasia' SubClassOf 'Multiple epiphyseal dysplasia and pseudoachondroplasia' http://www.orpha.net/ORDO/Orphanet_269 Facioscapulohumeral dystrophy 'Facioscapulohumeral dystrophy' SubClassOf 'Progressive muscular dystrophy' 'Facioscapulohumeral dystrophy' SubClassOf 'telomere syndrome' 'Facioscapulohumeral dystrophy' SubClassOf 'Progressive muscular dystrophy' http://www.orpha.net/ORDO/Orphanet_268 Autosomal recessive limb-girdle muscular dystrophy type 2B 'Autosomal recessive limb-girdle muscular dystrophy type 2B' SubClassOf 'Qualitative or quantitative defects of dysferlin' 'Autosomal recessive limb-girdle muscular dystrophy type 2B' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2B' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2B' SubClassOf 'Qualitative or quantitative defects of dysferlin' http://www.orpha.net/ORDO/Orphanet_267 Autosomal recessive limb-girdle muscular dystrophy type 2A 'Autosomal recessive limb-girdle muscular dystrophy type 2A' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2A' SubClassOf 'Qualitative or quantitative defects of calpain' 'Autosomal recessive limb-girdle muscular dystrophy type 2A' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2A' SubClassOf 'Qualitative or quantitative defects of calpain' http://www.orpha.net/ORDO/Orphanet_266 Autosomal dominant limb-girdle muscular dystrophy type 1A 'Autosomal dominant limb-girdle muscular dystrophy type 1A' SubClassOf 'Qualitative or quantitative defects of myotilin' 'Autosomal dominant limb-girdle muscular dystrophy type 1A' SubClassOf 'Autosomal dominant limb-girdle muscular dystrophy' 'Autosomal dominant limb-girdle muscular dystrophy type 1A' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_265 Autosomal dominant limb-girdle muscular dystrophy type 1C 'Autosomal dominant limb-girdle muscular dystrophy type 1C' SubClassOf 'Rippling muscle disease' 'Autosomal dominant limb-girdle muscular dystrophy type 1C' SubClassOf 'inherited rippling muscle disease' 'Autosomal dominant limb-girdle muscular dystrophy type 1C' SubClassOf 'Qualitative or quantitative defects of caveolin-3' http://www.orpha.net/ORDO/Orphanet_264 Autosomal dominant limb-girdle muscular dystrophy type 1B 'Autosomal dominant limb-girdle muscular dystrophy type 1B' SubClassOf 'Autosomal dominant Emery-Dreifuss muscular dystrophy' 'Autosomal dominant limb-girdle muscular dystrophy type 1B' SubClassOf 'Autosomal dominant limb-girdle muscular dystrophy' 'Autosomal dominant limb-girdle muscular dystrophy type 1B' SubClassOf 'disease shares features of' some 'X-linked Emery-Dreifuss muscular dystrophy' 'Autosomal dominant limb-girdle muscular dystrophy type 1B' SubClassOf 'Autosomal dominant limb-girdle muscular dystrophy' 'Autosomal dominant limb-girdle muscular dystrophy type 1B' SubClassOf 'Neuromuscular disease with dilated cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_263 Limb-girdle muscular dystrophy 'Limb-girdle muscular dystrophy' SubClassOf 'Progressive muscular dystrophy' 'Limb-girdle muscular dystrophy' SubClassOf 'Progressive muscular dystrophy' http://www.orpha.net/ORDO/Orphanet_262 Duchenne and Becker muscular dystrophy 'Duchenne and Becker muscular dystrophy' SubClassOf 'X-linked syndromic intellectual disability' 'Duchenne and Becker muscular dystrophy' SubClassOf 'Neuromuscular disease with dilated cardiomyopathy' 'Duchenne and Becker muscular dystrophy' SubClassOf 'Progressive muscular dystrophy' 'Duchenne and Becker muscular dystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_261 Emery-Dreifuss muscular dystrophy 'Emery-Dreifuss muscular dystrophy' SubClassOf 'Progressive muscular dystrophy' 'Emery-Dreifuss muscular dystrophy' SubClassOf 'Neuromuscular disease with dilated cardiomyopathy' 'Emery-Dreifuss muscular dystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_268865 Neurenteric cyst 'Neurenteric cyst' SubClassOf 'Neural tube defect' http://www.orpha.net/ORDO/Orphanet_325345 46,XY ovotesticular disorder of sex development '46,XY ovotesticular disorder of sex development' SubClassOf '46,XY disorder of gonadal development' '46,XY ovotesticular disorder of sex development' SubClassOf 'Gonadal dysgenesis of gynecological interest' '46,XY ovotesticular disorder of sex development' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0044989 foot disorder 'foot disorder' SubClassOf 'limb disorder' 'foot disorder' SubClassOf 'disease' http://www.orpha.net/ORDO/Orphanet_268868 Isolated amyelia 'Isolated amyelia' SubClassOf 'Neural tube defect' http://purl.obolibrary.org/obo/MONDO_0044988 hip region disorder 'hip region disorder' SubClassOf 'disease' http://www.orpha.net/ORDO/Orphanet_268861 Primary tethered chord syndrome 'Primary tethered chord syndrome' SubClassOf 'Neural tube defect' http://www.orpha.net/ORDO/Orphanet_278 Corticobasal degeneration 'Corticobasal degeneration' SubClassOf 'syndromic disease' 'Corticobasal degeneration' SubClassOf 'brain disease' http://www.orpha.net/ORDO/Orphanet_277 Severe combined immunodeficiency due to adenosine deaminase deficiency 'Severe combined immunodeficiency due to adenosine deaminase deficiency' SubClassOf 'T-B- severe combined immunodeficiency' 'Severe combined immunodeficiency due to adenosine deaminase deficiency' SubClassOf 'Disorder of purine metabolism' 'Severe combined immunodeficiency due to adenosine deaminase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017855 'Severe combined immunodeficiency due to adenosine deaminase deficiency' SubClassOf 'Disorder of purine metabolism' http://www.orpha.net/ORDO/Orphanet_276 T-B+ severe combined immunodeficiency due to gamma chain deficiency 'T-B+ severe combined immunodeficiency due to gamma chain deficiency' SubClassOf 'T-B+ severe combined immunodeficiency' 'T-B+ severe combined immunodeficiency due to gamma chain deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_275 Severe combined immunodeficiency due to DCLRE1C deficiency 'Severe combined immunodeficiency due to DCLRE1C deficiency' SubClassOf 'T-B- severe combined immunodeficiency' 'Severe combined immunodeficiency due to DCLRE1C deficiency' SubClassOf 'DNA repair deficiency' 'Severe combined immunodeficiency due to DCLRE1C deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017855 http://www.orpha.net/ORDO/Orphanet_274 Bernard-Soulier syndrome 'Bernard-Soulier syndrome' SubClassOf 'Inherited giant platelet disorder' 'Bernard-Soulier syndrome' SubClassOf 'inherited bleeding disorder, platelet-type' 'Bernard-Soulier syndrome' SubClassOf 'syndromic disease' 'Bernard-Soulier syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_273 Steinert myotonic dystrophy 'Steinert myotonic dystrophy' SubClassOf 'Eyelids malposition disorder' 'Steinert myotonic dystrophy' SubClassOf 'Myotonic dystrophy' 'Steinert myotonic dystrophy' SubClassOf 'familial hypertrophic cardiomyopathy' 'Steinert myotonic dystrophy' SubClassOf 'Myotonic dystrophy' http://www.orpha.net/ORDO/Orphanet_272 Congenital muscular dystrophy, Fukuyama type 'Congenital muscular dystrophy, Fukuyama type' SubClassOf 'myopathy caused by variation in FKTN' 'Congenital muscular dystrophy, Fukuyama type' SubClassOf 'Muscle-eye-brain disease' 'Congenital muscular dystrophy, Fukuyama type' SubClassOf 'muscular dystrophy-dystroglycanopathy, type A' 'Congenital muscular dystrophy, Fukuyama type' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'Congenital muscular dystrophy, Fukuyama type' SubClassOf 'Disorder of O-mannosylglycan synthesis' 'Congenital muscular dystrophy, Fukuyama type' SubClassOf 'Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase' 'Congenital muscular dystrophy, Fukuyama type' SubClassOf 'Qualitative or quantitative defects of FKRP' 'Congenital muscular dystrophy, Fukuyama type' SubClassOf 'Syndromic myopia' 'Congenital muscular dystrophy, Fukuyama type' SubClassOf 'Qualitative or quantitative defects of protein O-mannosyltransferase 2' 'Congenital muscular dystrophy, Fukuyama type' SubClassOf 'Qualitative or quantitative defects of fukutin' 'Congenital muscular dystrophy, Fukuyama type' SubClassOf 'Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies' 'Congenital muscular dystrophy, Fukuyama type' SubClassOf 'Congenital disorder of glycosylation with developmental anomaly' 'Congenital muscular dystrophy, Fukuyama type' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' http://purl.obolibrary.org/obo/MONDO_0044990 hand disorder 'hand disorder' SubClassOf 'limb disorder' 'hand disorder' SubClassOf 'disease' http://www.orpha.net/ORDO/Orphanet_270 Oculopharyngeal muscular dystrophy 'Oculopharyngeal muscular dystrophy' SubClassOf 'Progressive muscular dystrophy' 'Oculopharyngeal muscular dystrophy' SubClassOf 'Eyelids malposition disorder' 'Oculopharyngeal muscular dystrophy' SubClassOf 'myopathy of extraocular muscle' 'Oculopharyngeal muscular dystrophy' SubClassOf 'Progressive muscular dystrophy' http://www.orpha.net/ORDO/Orphanet_217266 BNAR syndrome 'BNAR syndrome' SubClassOf 'Rare otorhinolaryngological malformation' 'BNAR syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'BNAR syndrome' SubClassOf 'Syndromic anorectal malformation' 'BNAR syndrome' SubClassOf 'bifid nose' 'BNAR syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'BNAR syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'BNAR syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_289 Ellis Van Creveld syndrome 'Ellis Van Creveld syndrome' SubClassOf 'heart disease' 'Ellis Van Creveld syndrome' SubClassOf 'autosomal recessive disease' 'Ellis Van Creveld syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Ellis Van Creveld syndrome' SubClassOf 'Jeune syndrome' 'Ellis Van Creveld syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Ellis Van Creveld syndrome' SubClassOf 'Short rib-polydactyly syndrome' 'Ellis Van Creveld syndrome' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_288 Hereditary elliptocytosis 'Hereditary elliptocytosis' SubClassOf 'normocytic anemia' http://www.orpha.net/ORDO/Orphanet_287 Ehlers-Danlos syndrome, classic type 'Ehlers-Danlos syndrome, classic type' SubClassOf 'Rare disease with dentinogenesis imperfecta' 'Ehlers-Danlos syndrome, classic type' SubClassOf 'syndromic diaphragmatic or abdominal wall malformation' 'Ehlers-Danlos syndrome, classic type' SubClassOf 'syndromic diaphragmatic or thoracic malformation' 'Ehlers-Danlos syndrome, classic type' SubClassOf 'autosomal dominant disease' 'Ehlers-Danlos syndrome, classic type' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, classic type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_286 Ehlers-Danlos syndrome, vascular type 'Ehlers-Danlos syndrome, vascular type' SubClassOf 'has modifier' some 'rare' 'Ehlers-Danlos syndrome, vascular type' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, vascular type' SubClassOf 'vascular disease' 'Ehlers-Danlos syndrome, vascular type' SubClassOf 'Rare disease with thoracic aortic aneurysm and aortic dissection' 'Ehlers-Danlos syndrome, vascular type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_285 Ehlers-Danlos syndrome, hypermobility type 'Ehlers-Danlos syndrome, hypermobility type' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, hypermobility type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_268838 Leptomyelolipoma 'Leptomyelolipoma' SubClassOf 'Neural tube closure defect' http://www.orpha.net/ORDO/Orphanet_282 Frontotemporal dementia 'Frontotemporal dementia' SubClassOf 'Genetic dementia' 'Frontotemporal dementia' SubClassOf 'Genetic neurodegenerative disease' 'Frontotemporal dementia' SubClassOf 'mental or behavioural disorder' http://www.orpha.net/ORDO/Orphanet_281 Monosomy 5p 'Monosomy 5p' SubClassOf 'Partial deletion of the short arm of chromosome 5' 'Monosomy 5p' SubClassOf 'Syndromic epicanthus' 'Monosomy 5p' SubClassOf 'Partial deletion of the short arm of chromosome 5' 'Monosomy 5p' SubClassOf 'Syndromic epicanthus' http://www.orpha.net/ORDO/Orphanet_280 Wolf-Hirschhorn syndrome 'Wolf-Hirschhorn syndrome' SubClassOf 'syndromic intellectual disability' 'Wolf-Hirschhorn syndrome' SubClassOf 'syndromic diaphragmatic or abdominal wall malformation' 'Wolf-Hirschhorn syndrome' SubClassOf 'chromosome 4 short arm deletion' 'Wolf-Hirschhorn syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Wolf-Hirschhorn syndrome' SubClassOf 'syndromic diaphragmatic or thoracic malformation' 'Wolf-Hirschhorn syndrome' SubClassOf 'Syndromic genetic deafness' 'Wolf-Hirschhorn syndrome' SubClassOf 'disease has feature' some 'epilepsy' 'Wolf-Hirschhorn syndrome' SubClassOf 'epilepsy' 'Wolf-Hirschhorn syndrome' SubClassOf 'congenital nervous system disorder' 'Wolf-Hirschhorn syndrome' SubClassOf 'disease has feature' some 'Syndromic genetic deafness' 'Wolf-Hirschhorn syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 4' 'Wolf-Hirschhorn syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0044965 abdominal and pelvic region disorder 'abdominal and pelvic region disorder' SubClassOf 'disease' 'abdominal and pelvic region disorder' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0044967 limb disorder 'limb disorder' SubClassOf 'disease' http://www.orpha.net/ORDO/Orphanet_298 Mitochondrial neurogastrointestinal encephalomyopathy 'Mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf 'Eyelids malposition disorder' 'Mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf 'Mitochondrial myopathy' 'Mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf 'Disorder of pyrimidine metabolism' 'Mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf 'Disorder of pyrimidine metabolism' http://www.orpha.net/ORDO/Orphanet_268829 Basal encephalocele 'Basal encephalocele' SubClassOf 'Isolated encephalocele' 'Basal encephalocele' SubClassOf 'Isolated encephalocele' http://www.orpha.net/ORDO/Orphanet_296 Enchondromatosis 'Enchondromatosis' SubClassOf 'Primary bone dysplasia' 'Enchondromatosis' SubClassOf 'disease has feature' some 'bone benign neoplasm' 'Enchondromatosis' SubClassOf 'bone neoplasm' 'Enchondromatosis' SubClassOf 'hereditary disorder of connective tissue' 'Enchondromatosis' SubClassOf 'Overgrowth syndrome' 'Enchondromatosis' SubClassOf 'Inherited cancer-predisposing syndrome' http://www.orpha.net/ORDO/Orphanet_268835 Lipomyelomeningocele 'Lipomyelomeningocele' SubClassOf 'Neural tube closure defect' http://purl.obolibrary.org/obo/MONDO_0017398 3MC syndrome '3MC syndrome' SubClassOf 'Rare genetic neurological disorder' '3MC syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '3MC syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043005 '3MC syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 '3MC syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015159 http://www.orpha.net/ORDO/Orphanet_171430 Severe congenital nemaline myopathy 'Severe congenital nemaline myopathy' SubClassOf 'congenital nemaline myopathy' 'Severe congenital nemaline myopathy' SubClassOf 'Qualitative or quantitative defects of nebulin' 'Severe congenital nemaline myopathy' SubClassOf 'Nemaline myopathy' 'Severe congenital nemaline myopathy' SubClassOf 'congenital nervous system disorder' 'Severe congenital nemaline myopathy' SubClassOf 'Qualitative or quantitative defects of alpha-actin' 'Severe congenital nemaline myopathy' SubClassOf 'Qualitative or quantitative defects of nebulin' 'Severe congenital nemaline myopathy' SubClassOf 'Nemaline myopathy' 'Severe congenital nemaline myopathy' SubClassOf 'Qualitative or quantitative defects of alpha-actin' http://www.orpha.net/ORDO/Orphanet_171433 Intermediate nemaline myopathy 'Intermediate nemaline myopathy' SubClassOf 'congenital nervous system disorder' 'Intermediate nemaline myopathy' SubClassOf 'Qualitative or quantitative defects of nebulin' 'Intermediate nemaline myopathy' SubClassOf 'Qualitative or quantitative defects of tropomyosin' 'Intermediate nemaline myopathy' SubClassOf 'Qualitative or quantitative defects of alpha-actin' 'Intermediate nemaline myopathy' SubClassOf 'Nemaline myopathy' 'Intermediate nemaline myopathy' SubClassOf 'congenital nemaline myopathy' 'Intermediate nemaline myopathy' SubClassOf 'Qualitative or quantitative defects of nebulin' 'Intermediate nemaline myopathy' SubClassOf 'Qualitative or quantitative defects of tropomyosin' 'Intermediate nemaline myopathy' SubClassOf 'Qualitative or quantitative defects of alpha-actin' 'Intermediate nemaline myopathy' SubClassOf 'Nemaline myopathy' http://www.orpha.net/ORDO/Orphanet_171436 Typical nemaline myopathy 'Typical nemaline myopathy' SubClassOf 'Nemaline myopathy' 'Typical nemaline myopathy' SubClassOf 'Qualitative or quantitative defects of tropomyosin' 'Typical nemaline myopathy' SubClassOf 'congenital nervous system disorder' 'Typical nemaline myopathy' SubClassOf 'congenital nemaline myopathy' 'Typical nemaline myopathy' SubClassOf 'Qualitative or quantitative defects of alpha-actin' 'Typical nemaline myopathy' SubClassOf 'Qualitative or quantitative defects of nebulin' 'Typical nemaline myopathy' SubClassOf 'Nemaline myopathy' 'Typical nemaline myopathy' SubClassOf 'Qualitative or quantitative defects of tropomyosin' 'Typical nemaline myopathy' SubClassOf 'Qualitative or quantitative defects of alpha-actin' 'Typical nemaline myopathy' SubClassOf 'Qualitative or quantitative defects of nebulin' http://www.orpha.net/ORDO/Orphanet_171439 Childhood-onset nemaline myopathy 'Childhood-onset nemaline myopathy' SubClassOf 'Qualitative or quantitative defects of nebulin' 'Childhood-onset nemaline myopathy' SubClassOf 'Qualitative or quantitative defects of alpha-actin' 'Childhood-onset nemaline myopathy' SubClassOf 'Qualitative or quantitative defects of tropomyosin' 'Childhood-onset nemaline myopathy' SubClassOf 'Nemaline myopathy' 'Childhood-onset nemaline myopathy' SubClassOf 'Qualitative or quantitative defects of nebulin' 'Childhood-onset nemaline myopathy' SubClassOf 'Qualitative or quantitative defects of alpha-actin' 'Childhood-onset nemaline myopathy' SubClassOf 'Qualitative or quantitative defects of tropomyosin' 'Childhood-onset nemaline myopathy' SubClassOf 'Nemaline myopathy' http://www.orpha.net/ORDO/Orphanet_171442 Adult-onset nemaline myopathy 'Adult-onset nemaline myopathy' SubClassOf 'Nemaline myopathy' 'Adult-onset nemaline myopathy' SubClassOf 'Qualitative or quantitative defects of nebulin' 'Adult-onset nemaline myopathy' SubClassOf 'Qualitative or quantitative defects of alpha-actin' 'Adult-onset nemaline myopathy' SubClassOf 'Nemaline myopathy' 'Adult-onset nemaline myopathy' SubClassOf 'Qualitative or quantitative defects of nebulin' 'Adult-onset nemaline myopathy' SubClassOf 'Qualitative or quantitative defects of alpha-actin' http://www.ebi.ac.uk/efo/EFO_0005950 head and neck neoplasia 'head and neck neoplasia' SubClassOf 'neoplasm' 'head and neck neoplasia' SubClassOf 'head and neck disorder' 'head and neck neoplasia' SubClassOf 'neoplasm' 'head and neck neoplasia' SubClassOf 'head and neck disorder' http://www.orpha.net/ORDO/Orphanet_305 Junctional epidermolysis bullosa 'Junctional epidermolysis bullosa' SubClassOf 'Inherited epidermolysis bullosa' 'Junctional epidermolysis bullosa' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019276 'Junctional epidermolysis bullosa' SubClassOf 'Inherited epidermolysis bullosa' http://www.orpha.net/ORDO/Orphanet_304 Epidermolysis bullosa simplex 'Epidermolysis bullosa simplex' SubClassOf 'Inherited epidermolysis bullosa' 'Epidermolysis bullosa simplex' SubClassOf 'Inherited epidermolysis bullosa' http://www.orpha.net/ORDO/Orphanet_302 Epidermodysplasia verruciformis 'Epidermodysplasia verruciformis' SubClassOf 'Primary immunodeficiency due to a defect in innate immunity' 'Epidermodysplasia verruciformis' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_300 Bifunctional enzyme deficiency 'Bifunctional enzyme deficiency' SubClassOf 'Peroxisomal beta-oxidation disorder' 'Bifunctional enzyme deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_316 Progressive symmetric erythrokeratodermia 'Progressive symmetric erythrokeratodermia' SubClassOf 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' 'Progressive symmetric erythrokeratodermia' SubClassOf 'Erythrokeratoderma variabilis progressiva' 'Progressive symmetric erythrokeratodermia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_315 Erythrokeratoderma "en cocardes" 'Erythrokeratoderma "en cocardes"' SubClassOf 'genetic skin disease' 'Erythrokeratoderma "en cocardes"' SubClassOf 'erythrokeratoderma' http://www.orpha.net/ORDO/Orphanet_314 Erythroderma desquamativum 'Erythroderma desquamativum' SubClassOf 'immune system disease' http://www.orpha.net/ORDO/Orphanet_313 Lamellar ichthyosis 'Lamellar ichthyosis' SubClassOf 'Secondary ectropion' 'Lamellar ichthyosis' SubClassOf 'Inherited non-syndromic ichthyosis' 'Lamellar ichthyosis' SubClassOf 'Secondary ectropion' http://www.orpha.net/ORDO/Orphanet_312 Epidermolytic ichthyosis 'Epidermolytic ichthyosis' SubClassOf 'Keratinopathic ichthyosis' 'Epidermolytic ichthyosis' SubClassOf 'Keratinopathic ichthyosis' http://www.orpha.net/ORDO/Orphanet_309 Familial partial epilepsy 'Familial partial epilepsy' SubClassOf 'Childhood-onset epilepsy syndrome' 'Familial partial epilepsy' EquivalentTo 'partial epilepsy' and ('has modifier' some 'inherited') 'Familial partial epilepsy' SubClassOf 'partial epilepsy' 'Familial partial epilepsy' SubClassOf 'Adolescent-onset epilepsy syndrome' 'Familial partial epilepsy' SubClassOf 'Childhood-onset epilepsy syndrome' 'Familial partial epilepsy' SubClassOf 'Adolescent-onset epilepsy syndrome' http://www.orpha.net/ORDO/Orphanet_308 Unverricht-Lundborg disease 'Unverricht-Lundborg disease' SubClassOf 'movement disorder' 'Unverricht-Lundborg disease' SubClassOf 'Progressive myoclonic epilepsy' 'Unverricht-Lundborg disease' SubClassOf 'Progressive epilepsy and/or ataxia with myoclonus as a major feature' 'Unverricht-Lundborg disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020074 'Unverricht-Lundborg disease' SubClassOf 'Progressive myoclonic epilepsy' http://www.orpha.net/ORDO/Orphanet_307 Juvenile myoclonic epilepsy 'Juvenile myoclonic epilepsy' SubClassOf 'childhood electroclinical syndrome' 'Juvenile myoclonic epilepsy' SubClassOf 'adolescent/adult-onset epilepsy syndrome' 'Juvenile myoclonic epilepsy' SubClassOf 'adolescence-adult electroclinical syndrome' 'Juvenile myoclonic epilepsy' SubClassOf 'Familial partial epilepsy' 'Juvenile myoclonic epilepsy' SubClassOf 'movement disorder' 'Juvenile myoclonic epilepsy' SubClassOf 'Familial partial epilepsy' 'Juvenile myoclonic epilepsy' SubClassOf 'movement disorder' 'Juvenile myoclonic epilepsy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017704 http://www.orpha.net/ORDO/Orphanet_306 Benign familial infantile epilepsy 'Benign familial infantile epilepsy' SubClassOf 'Benign partial infantile seizures' 'Benign familial infantile epilepsy' SubClassOf 'infancy electroclinical syndrome' 'Benign familial infantile epilepsy' SubClassOf 'Benign partial infantile seizures' http://www.orpha.net/ORDO/Orphanet_327 Congenital factor VII deficiency 'Congenital factor VII deficiency' SubClassOf 'Congenital vitamin K-dependent coagulation factors deficiency' 'Congenital factor VII deficiency' SubClassOf 'factor VII deficiency' 'Congenital factor VII deficiency' SubClassOf 'Congenital vitamin K-dependent coagulation factors deficiency' http://www.orpha.net/ORDO/Orphanet_326 Congenital factor V deficiency 'Congenital factor V deficiency' EquivalentTo 'factor V deficiency' and ('has modifier' some 'inherited') 'Congenital factor V deficiency' SubClassOf 'factor V deficiency' 'Congenital factor V deficiency' SubClassOf 'hemorrhagic disease' http://www.orpha.net/ORDO/Orphanet_325 Congenital factor II deficiency 'Congenital factor II deficiency' SubClassOf 'Congenital vitamin K-dependent coagulation factors deficiency' 'Congenital factor II deficiency' EquivalentTo 'prothrombin deficiency' and ('has modifier' some 'inherited') 'Congenital factor II deficiency' SubClassOf 'autosomal recessive disease' 'Congenital factor II deficiency' SubClassOf 'prothrombin deficiency' 'Congenital factor II deficiency' SubClassOf 'Congenital vitamin K-dependent coagulation factors deficiency' http://www.orpha.net/ORDO/Orphanet_324 Fabry disease 'Fabry disease' SubClassOf 'Genetic peripheral neuropathy' 'Fabry disease' SubClassOf 'Sphingolipidosis' 'Fabry disease' SubClassOf 'Lysosomal disease with hypertrophic cardiomyopathy' 'Fabry disease' SubClassOf 'Rare syndromic dyslipidemia' 'Fabry disease' SubClassOf 'Metabolic disease with corneal opacity' 'Fabry disease' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' 'Fabry disease' SubClassOf 'Syndromic lymphedema' 'Fabry disease' SubClassOf 'Cataract associated with a metabolic disease' 'Fabry disease' SubClassOf 'Genetic skin vascular disorder' 'Fabry disease' SubClassOf 'Developmental anomaly of metabolic origin' 'Fabry disease' SubClassOf 'neurovascular disorder' 'Fabry disease' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Fabry disease' SubClassOf 'Lysosomal disease with restrictive cardiomyopathy' 'Fabry disease' SubClassOf 'Milroy disease' 'Fabry disease' SubClassOf 'skin vascular disease' 'Fabry disease' SubClassOf 'disease has feature' some 'metabolic disease' 'Fabry disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_322 Exstrophy-epispadias complex 'Exstrophy-epispadias complex' SubClassOf 'diaphragmatic or abdominal wall malformation' 'Exstrophy-epispadias complex' SubClassOf 'kidney disease' 'Exstrophy-epispadias complex' SubClassOf 'Genetic urogenital tract malformation' http://www.orpha.net/ORDO/Orphanet_321 Multiple osteochondromas 'Multiple osteochondromas' SubClassOf 'Congenital disorder of glycosylation-related bone disorder' 'Multiple osteochondromas' SubClassOf 'Inherited cancer-predisposing syndrome' 'Multiple osteochondromas' SubClassOf 'Disorder of O-xylosylglycan synthesis' 'Multiple osteochondromas' SubClassOf 'hereditary disorder of connective tissue' 'Multiple osteochondromas' SubClassOf 'exostosis' 'Multiple osteochondromas' SubClassOf 'bone neoplasm' http://www.orpha.net/ORDO/Orphanet_320 Apparent mineralocorticoid excess 'Apparent mineralocorticoid excess' SubClassOf 'adrenal gland disease' 'Apparent mineralocorticoid excess' SubClassOf 'Genetic hypertension' 'Apparent mineralocorticoid excess' SubClassOf 'Genetic hypertension' http://purl.obolibrary.org/obo/HP_0001195 Single umbilical artery 'Single umbilical artery' SubClassOf 'Abnormality of the cardiovascular system' 'Single umbilical artery' SubClassOf 'Abnormality of cardiovascular system morphology' http://www.orpha.net/ORDO/Orphanet_317 Erythrokeratodermia variabilis 'Erythrokeratodermia variabilis' SubClassOf 'Inherited non-syndromic ichthyosis' 'Erythrokeratodermia variabilis' SubClassOf 'Erythrokeratoderma variabilis progressiva' 'Erythrokeratodermia variabilis' SubClassOf 'Isolated diffuse palmoplantar keratoderma' 'Erythrokeratodermia variabilis' SubClassOf 'Inherited non-syndromic ichthyosis' 'Erythrokeratodermia variabilis' SubClassOf 'Erythrokeratoderma variabilis progressiva' http://www.orpha.net/ORDO/Orphanet_338 Familial multiple fibrofolliculoma 'Familial multiple fibrofolliculoma' SubClassOf 'Genetic skin tumor' 'Familial multiple fibrofolliculoma' SubClassOf 'Genetic skin tumor' http://www.orpha.net/ORDO/Orphanet_337 Fibrodysplasia ossificans progressiva 'Fibrodysplasia ossificans progressiva' SubClassOf 'subcutaneous tissue disorder' 'Fibrodysplasia ossificans progressiva' SubClassOf 'has modifier' some 'rare' 'Fibrodysplasia ossificans progressiva' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_335 Congenital fibrinogen deficiency 'Congenital fibrinogen deficiency' SubClassOf 'coagulation protein disease' 'Congenital fibrinogen deficiency' SubClassOf 'hemorrhagic disease' http://www.orpha.net/ORDO/Orphanet_334 Familial atrial fibrillation 'Familial atrial fibrillation' SubClassOf 'atrial fibrillation' 'Familial atrial fibrillation' SubClassOf 'Genetic cardiac rhythm disease' 'Familial atrial fibrillation' EquivalentTo 'atrial fibrillation' and ('has modifier' some 'inherited') 'Familial atrial fibrillation' SubClassOf 'Genetic cardiac rhythm disease' http://www.orpha.net/ORDO/Orphanet_333 Farber lipogranulomatosis 'Farber lipogranulomatosis' SubClassOf 'Neurometabolic disease' 'Farber lipogranulomatosis' SubClassOf 'Sphingolipidosis' 'Farber lipogranulomatosis' SubClassOf 'Unclassified primitive or secondary maculopathy' 'Farber lipogranulomatosis' SubClassOf 'subcutaneous tissue disorder' 'Farber lipogranulomatosis' SubClassOf 'Genetic subcutaneous tissue disorder' 'Farber lipogranulomatosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_332 Congenital intrinsic factor deficiency 'Congenital intrinsic factor deficiency' SubClassOf 'Disorder of cobalamin metabolism and transport' 'Congenital intrinsic factor deficiency' SubClassOf 'inborn vitamin B12 deficiency' 'Congenital intrinsic factor deficiency' SubClassOf 'Disorder of cobalamin metabolism and transport' http://www.orpha.net/ORDO/Orphanet_331 Congenital factor XIII deficiency 'Congenital factor XIII deficiency' SubClassOf 'congenital hematological disorder' 'Congenital factor XIII deficiency' SubClassOf 'factor XIII deficiency' 'Congenital factor XIII deficiency' SubClassOf 'hemorrhagic disease' http://www.orpha.net/ORDO/Orphanet_330 Congenital factor XII deficiency 'Congenital factor XII deficiency' SubClassOf 'hemorrhagic disease' 'Congenital factor XII deficiency' SubClassOf 'autosomal genetic disease' 'Congenital factor XII deficiency' SubClassOf 'congenital hematological disorder' 'Congenital factor XII deficiency' SubClassOf 'Rare genetic coagulation disorder' 'Congenital factor XII deficiency' SubClassOf 'coagulation protein disease' http://www.orpha.net/ORDO/Orphanet_329 Congenital factor XI deficiency 'Congenital factor XI deficiency' SubClassOf 'autosomal genetic disease' 'Congenital factor XI deficiency' SubClassOf 'Rare genetic coagulation disorder' 'Congenital factor XI deficiency' EquivalentTo 'factor XI deficiency' and ('has modifier' some 'inherited') 'Congenital factor XI deficiency' SubClassOf 'hemorrhagic disease' 'Congenital factor XI deficiency' SubClassOf 'Hemophilia' 'Congenital factor XI deficiency' SubClassOf 'congenital hematological disorder' 'Congenital factor XI deficiency' SubClassOf 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' http://www.orpha.net/ORDO/Orphanet_328 Congenital factor X deficiency 'Congenital factor X deficiency' SubClassOf 'factor X deficiency' 'Congenital factor X deficiency' SubClassOf 'Congenital vitamin K-dependent coagulation factors deficiency' 'Congenital factor X deficiency' SubClassOf 'Congenital vitamin K-dependent coagulation factors deficiency' http://www.orpha.net/ORDO/Orphanet_93604 Antenatal Bartter syndrome 'Antenatal Bartter syndrome' SubClassOf 'Bartter syndrome' 'Antenatal Bartter syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93602 Xanthinuria type II 'Xanthinuria type II' SubClassOf 'Hereditary xanthinuria' 'Xanthinuria type II' SubClassOf 'Hereditary xanthinuria' http://www.orpha.net/ORDO/Orphanet_93601 Xanthinuria type I 'Xanthinuria type I' SubClassOf 'Hereditary xanthinuria' 'Xanthinuria type I' SubClassOf 'Hereditary xanthinuria' http://www.orpha.net/ORDO/Orphanet_93600 Primary hyperoxaluria type 3 'Primary hyperoxaluria type 3' SubClassOf 'Primary hyperoxaluria' 'Primary hyperoxaluria type 3' SubClassOf 'Primary hyperoxaluria' http://www.orpha.net/ORDO/Orphanet_93608 Autosomal dominant distal renal tubular acidosis 'Autosomal dominant distal renal tubular acidosis' SubClassOf 'autosomal dominant disease' 'Autosomal dominant distal renal tubular acidosis' SubClassOf 'Distal renal tubular acidosis' 'Autosomal dominant distal renal tubular acidosis' SubClassOf 'Distal renal tubular acidosis' http://www.orpha.net/ORDO/Orphanet_93607 Autosomal recessive proximal renal tubular acidosis 'Autosomal recessive proximal renal tubular acidosis' SubClassOf 'Proximal renal tubular acidosis' 'Autosomal recessive proximal renal tubular acidosis' SubClassOf 'autosomal recessive disease' 'Autosomal recessive proximal renal tubular acidosis' SubClassOf 'Proximal renal tubular acidosis' http://www.orpha.net/ORDO/Orphanet_93606 Nephrogenic syndrome of inappropriate antidiuresis 'Nephrogenic syndrome of inappropriate antidiuresis' SubClassOf 'Genetic renal tubular disease' 'Nephrogenic syndrome of inappropriate antidiuresis' SubClassOf 'Genetic renal tubular disease' http://www.orpha.net/ORDO/Orphanet_93605 Classic Bartter syndrome 'Classic Bartter syndrome' SubClassOf 'Bartter syndrome' 'Classic Bartter syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93613 Cystinuria type B 'Cystinuria type B' SubClassOf 'Cystinuria' 'Cystinuria type B' SubClassOf 'Cystinuria' http://www.orpha.net/ORDO/Orphanet_93612 Cystinuria type A 'Cystinuria type A' SubClassOf 'Cystinuria' 'Cystinuria type A' SubClassOf 'Cystinuria' http://www.orpha.net/ORDO/Orphanet_93610 Distal renal tubular acidosis with anemia 'Distal renal tubular acidosis with anemia' SubClassOf 'Distal renal tubular acidosis' 'Distal renal tubular acidosis with anemia' SubClassOf 'familial hemolytic anemia' 'Distal renal tubular acidosis with anemia' SubClassOf 'Distal renal tubular acidosis' http://www.orpha.net/ORDO/Orphanet_93616 Hemoglobin H disease 'Hemoglobin H disease' SubClassOf 'disease has feature' some 'pituitary hormone deficiency secondary to storage disease' 'Hemoglobin H disease' SubClassOf 'Alpha-thalassemia' 'Hemoglobin H disease' SubClassOf 'Alpha-thalassemia' http://www.orpha.net/ORDO/Orphanet_93623 Dent disease type 2 'Dent disease type 2' SubClassOf 'Dent disease' 'Dent disease type 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93622 Dent disease type 1 'Dent disease type 1' SubClassOf 'Dent disease' 'Dent disease type 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_42062 Iminoglycinuria 'Iminoglycinuria' SubClassOf 'Disorder of neutral amino acid transport' 'Iminoglycinuria' SubClassOf 'Disorder of neutral amino acid transport' http://www.orpha.net/ORDO/Orphanet_29072 Hereditary pheochromocytoma-paraganglioma 'Hereditary pheochromocytoma-paraganglioma' SubClassOf 'adrenal gland disease' 'Hereditary pheochromocytoma-paraganglioma' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0007806 hypotrichosis 4 'hypotrichosis 4' SubClassOf 'Marie Unna hereditary hypotrichosis' 'hypotrichosis 4' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018631 'hypotrichosis 4' SubClassOf 'genetic alopecia' http://purl.obolibrary.org/obo/MONDO_0007812 ichthyosis, lamellar, autosomal dominant 'ichthyosis, lamellar, autosomal dominant' SubClassOf 'Lamellar ichthyosis' 'ichthyosis, lamellar, autosomal dominant' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017778 http://purl.obolibrary.org/obo/MONDO_0007817 IgE responsiveness, atopic 'IgE responsiveness, atopic' SubClassOf 'atopic eczema' 'IgE responsiveness, atopic' SubClassOf 'atopic eczema' http://purl.obolibrary.org/obo/MONDO_0020811 mitochondrial complex III deficiency, nuclear type 'mitochondrial complex III deficiency, nuclear type' SubClassOf 'Isolated CoQ-cytochrome C reductase deficiency' 'mitochondrial complex III deficiency, nuclear type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015448 http://purl.obolibrary.org/obo/MONDO_0007844 hypogonadotropic hypogonadism 2 with or without anosmia 'hypogonadotropic hypogonadism 2 with or without anosmia' SubClassOf 'Kallmann syndrome' 'hypogonadotropic hypogonadism 2 with or without anosmia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018800 http://purl.obolibrary.org/obo/MONDO_0007845 Kaposi sarcoma, susceptibility to 'Kaposi sarcoma, susceptibility to' SubClassOf 'Genetic susceptibility to infections due to particular pathogens' 'Kaposi sarcoma, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015979 http://purl.obolibrary.org/obo/MONDO_0019822 arterial duct anomaly 'arterial duct anomaly' SubClassOf 'congenital anomaly of the great arteries' 'arterial duct anomaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020292 http://purl.obolibrary.org/obo/MONDO_0007859 palmoplantar keratoderma i, striate, focal, or diffuse 'palmoplantar keratoderma i, striate, focal, or diffuse' SubClassOf 'Hereditary palmoplantar keratoderma' 'palmoplantar keratoderma i, striate, focal, or diffuse' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019272 http://purl.obolibrary.org/obo/MONDO_0007853 palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome 'palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome' SubClassOf 'Diffuse palmoplantar keratoderma' 'palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome' SubClassOf 'Autosomal dominant hereditary axonal motor and sensory neuropathy' 'palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017666 'palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015360 http://purl.obolibrary.org/obo/MONDO_0019832 acquired pituitary hormone deficiency 'acquired pituitary hormone deficiency' SubClassOf 'Pituitary deficiency' 'acquired pituitary hormone deficiency' SubClassOf 'Combined pituitary hormone deficiencies, genetic forms' 'acquired pituitary hormone deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015127 'acquired pituitary hormone deficiency' SubClassOf 'hypopituitarism' http://purl.obolibrary.org/obo/MONDO_0020831 congenital vertebral-cardiac-renal anomalies syndrome 'congenital vertebral-cardiac-renal anomalies syndrome' SubClassOf 'Syndromic genetic deafness' 'congenital vertebral-cardiac-renal anomalies syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'congenital vertebral-cardiac-renal anomalies syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'congenital vertebral-cardiac-renal anomalies syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'congenital vertebral-cardiac-renal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019721 'congenital vertebral-cardiac-renal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019589 'congenital vertebral-cardiac-renal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043008 'congenital vertebral-cardiac-renal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015620 http://www.orpha.net/ORDO/Orphanet_352629 16q24.1 microdeletion syndrome '16q24.1 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 16' '16q24.1 microdeletion syndrome' SubClassOf 'respiratory system disease' '16q24.1 microdeletion syndrome' SubClassOf 'Genetic interstitial lung disease' '16q24.1 microdeletion syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019844 pituitary hormone deficiency secondary to storage disease 'pituitary hormone deficiency secondary to storage disease' SubClassOf 'Pituitary deficiency' 'pituitary hormone deficiency secondary to storage disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015127 http://purl.obolibrary.org/obo/MONDO_0019846 acquired central diabetes insipidus 'acquired central diabetes insipidus' SubClassOf 'Rare genetic neurological disorder' 'acquired central diabetes insipidus' SubClassOf 'Pituitary deficiency' 'acquired central diabetes insipidus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015127 http://purl.obolibrary.org/obo/MONDO_0020820 distal arthrogryposis type 2B1 'distal arthrogryposis type 2B1' SubClassOf 'Sheldon-Hall syndrome' 'distal arthrogryposis type 2B1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0011128 http://www.orpha.net/ORDO/Orphanet_254531 Paternal 14q32.2 hypomethylation syndrome 'Paternal 14q32.2 hypomethylation syndrome' SubClassOf 'Motor developmental delay due to 14q32.2 paternally expressed gene defect' 'Paternal 14q32.2 hypomethylation syndrome' SubClassOf 'Motor developmental delay due to 14q32.2 paternally expressed gene defect' http://www.orpha.net/ORDO/Orphanet_588 Muscle-eye-brain disease 'Muscle-eye-brain disease' SubClassOf 'myopathy caused by variation in POMGNT1' 'Muscle-eye-brain disease' SubClassOf 'myopathy caused by variation in FKRP' 'Muscle-eye-brain disease' SubClassOf 'Syndromic myopia' 'Muscle-eye-brain disease' SubClassOf 'Qualitative or quantitative defects of protein O-mannosyltransferase 2' 'Muscle-eye-brain disease' SubClassOf 'Disorder of O-mannosylglycan synthesis' 'Muscle-eye-brain disease' SubClassOf 'Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase' 'Muscle-eye-brain disease' SubClassOf 'Syndromic myopia' 'Muscle-eye-brain disease' SubClassOf 'Disorder of O-mannosylglycan synthesis' 'Muscle-eye-brain disease' SubClassOf 'Qualitative or quantitative defects of protein O-mannosyltransferase 2' 'Muscle-eye-brain disease' SubClassOf 'Qualitative or quantitative defects of fukutin' http://www.orpha.net/ORDO/Orphanet_587 Muir-Torre syndrome 'Muir-Torre syndrome' SubClassOf 'hereditary nonpolyposis colon cancer' 'Muir-Torre syndrome' SubClassOf 'autosomal dominant disease' 'Muir-Torre syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_586 Cystic fibrosis 'Cystic fibrosis' SubClassOf 'has modifier' some 'rare' 'Cystic fibrosis' SubClassOf 'respiratory system disease' 'Cystic fibrosis' SubClassOf 'autosomal recessive disease' 'Cystic fibrosis' SubClassOf 'autosomal recessive disease' http://www.orpha.net/ORDO/Orphanet_585 Multiple sulfatase deficiency 'Multiple sulfatase deficiency' SubClassOf 'Neurometabolic disease' 'Multiple sulfatase deficiency' SubClassOf 'Rare syndromic dyslipidemia' 'Multiple sulfatase deficiency' SubClassOf 'Developmental anomaly of metabolic origin' 'Multiple sulfatase deficiency' SubClassOf 'Sphingolipidosis' 'Multiple sulfatase deficiency' SubClassOf 'Neurometabolic disease' 'Multiple sulfatase deficiency' SubClassOf 'Developmental anomaly of metabolic origin' 'Multiple sulfatase deficiency' SubClassOf 'Sphingolipidosis' http://www.orpha.net/ORDO/Orphanet_254534 Maternal 14q32.2 hypermethylation syndrome 'Maternal 14q32.2 hypermethylation syndrome' SubClassOf 'Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' 'Maternal 14q32.2 hypermethylation syndrome' SubClassOf 'Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' http://www.orpha.net/ORDO/Orphanet_584 Mucopolysaccharidosis type 7 'Mucopolysaccharidosis type 7' SubClassOf 'has modifier' some 'rare' 'Mucopolysaccharidosis type 7' SubClassOf 'Mucopolysaccharidosis' 'Mucopolysaccharidosis type 7' SubClassOf 'Mucopolysaccharidosis' http://www.orpha.net/ORDO/Orphanet_583 Mucopolysaccharidosis type 6 'Mucopolysaccharidosis type 6' SubClassOf 'has modifier' some 'rare' 'Mucopolysaccharidosis type 6' SubClassOf 'Mucopolysaccharidosis' 'Mucopolysaccharidosis type 6' SubClassOf 'syndromic disease' 'Mucopolysaccharidosis type 6' SubClassOf 'Mucopolysaccharidosis' http://purl.obolibrary.org/obo/MONDO_0020850 intellectual disability, autosomal recessive 65 'intellectual disability, autosomal recessive 65' SubClassOf 'Autosomal recessive non-syndromic intellectual disability' 'intellectual disability, autosomal recessive 65' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019502 http://www.orpha.net/ORDO/Orphanet_582 Mucopolysaccharidosis type 4 'Mucopolysaccharidosis type 4' SubClassOf 'Mucopolysaccharidosis' 'Mucopolysaccharidosis type 4' SubClassOf 'has modifier' some 'rare' 'Mucopolysaccharidosis type 4' SubClassOf 'syndromic disease' 'Mucopolysaccharidosis type 4' SubClassOf 'Mucopolysaccharidosis' http://www.orpha.net/ORDO/Orphanet_581 Mucopolysaccharidosis type 3 'Mucopolysaccharidosis type 3' SubClassOf 'Mucopolysaccharidosis' 'Mucopolysaccharidosis type 3' SubClassOf 'Neurometabolic disease' 'Mucopolysaccharidosis type 3' SubClassOf 'syndromic disease' 'Mucopolysaccharidosis type 3' SubClassOf 'Mucopolysaccharidosis' 'Mucopolysaccharidosis type 3' SubClassOf 'Neurometabolic disease' http://www.orpha.net/ORDO/Orphanet_580 Mucopolysaccharidosis type 2 'Mucopolysaccharidosis type 2' SubClassOf 'Neurometabolic disease' 'Mucopolysaccharidosis type 2' SubClassOf 'syndromic disease' 'Mucopolysaccharidosis type 2' SubClassOf 'Mucopolysaccharidosis' 'Mucopolysaccharidosis type 2' SubClassOf 'Neurometabolic disease' 'Mucopolysaccharidosis type 2' SubClassOf 'Mucopolysaccharidosis' http://purl.obolibrary.org/obo/MONDO_0020854 Liddle syndrome 2 'Liddle syndrome 2' SubClassOf 'Liddle syndrome' 'Liddle syndrome 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0008323 http://www.orpha.net/ORDO/Orphanet_254528 Maternal 14q32.2 microdeletion syndrome 'Maternal 14q32.2 microdeletion syndrome' SubClassOf 'Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' 'Maternal 14q32.2 microdeletion syndrome' SubClassOf 'Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' http://www.orpha.net/ORDO/Orphanet_599 Distal myopathy 'Distal myopathy' SubClassOf 'Muscular dystrophy' 'Distal myopathy' SubClassOf 'Genetic skeletal muscle disease' http://www.orpha.net/ORDO/Orphanet_598 Multiminicore myopathy 'Multiminicore myopathy' SubClassOf 'Qualitative or quantitative defects of selenoprotein N1' 'Multiminicore myopathy' SubClassOf 'congenital nervous system disorder' 'Multiminicore myopathy' SubClassOf 'Congenital myopathy with cores' 'Multiminicore myopathy' SubClassOf 'Qualitative or quantitative defects of selenoprotein N1' 'Multiminicore myopathy' SubClassOf 'Congenital myopathy with cores' http://www.orpha.net/ORDO/Orphanet_597 Central core disease 'Central core disease' SubClassOf 'RYR1-related myopathy' 'Central core disease' SubClassOf 'TPM2-related myopathy' 'Central core disease' SubClassOf 'Congenital myopathy with cores' 'Central core disease' SubClassOf 'Myofibrillar myopathy' 'Central core disease' SubClassOf 'Congenital myopathy with cores' http://www.orpha.net/ORDO/Orphanet_596 X-linked centronuclear myopathy 'X-linked centronuclear myopathy' SubClassOf 'congenital structural myopathy' 'X-linked centronuclear myopathy' SubClassOf 'Centronuclear myopathy' 'X-linked centronuclear myopathy' SubClassOf 'congenital nervous system disorder' 'X-linked centronuclear myopathy' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked centronuclear myopathy' SubClassOf 'Qualitative or quantitative defects of myotubularin' 'X-linked centronuclear myopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_595 Centronuclear myopathy 'Centronuclear myopathy' SubClassOf 'Congenital myopathy' 'Centronuclear myopathy' SubClassOf 'Congenital myopathy' http://www.orpha.net/ORDO/Orphanet_593 Myofibrillar myopathy 'Myofibrillar myopathy' SubClassOf 'congenital structural myopathy' 'Myofibrillar myopathy' SubClassOf 'Non-dystrophic myopathy' 'Myofibrillar myopathy' SubClassOf 'Non-dystrophic myopathy' http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndromes 'Congenital myasthenic syndromes' SubClassOf 'Genetic neuromuscular junction disease' 'Congenital myasthenic syndromes' SubClassOf 'syndromic disease' 'Congenital myasthenic syndromes' SubClassOf 'Eyelids malposition disorder' 'Congenital myasthenic syndromes' SubClassOf 'Genetic neuromuscular junction disease' http://purl.obolibrary.org/obo/MONDO_0020847 intellectual disability, autosomal dominant 58 'intellectual disability, autosomal dominant 58' SubClassOf 'Autosomal dominant non-syndromic intellectual disability' 'intellectual disability, autosomal dominant 58' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015802 http://purl.obolibrary.org/obo/MONDO_0020846 intellectual disability, autosomal recessive 64 'intellectual disability, autosomal recessive 64' SubClassOf 'Autosomal recessive non-syndromic intellectual disability' 'intellectual disability, autosomal recessive 64' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019502 http://purl.obolibrary.org/obo/MONDO_0020841 neurodevelopmental disorder with cerebellar atrophy and with or without seizures 'neurodevelopmental disorder with cerebellar atrophy and with or without seizures' SubClassOf 'Rare genetic neurological disorder' 'neurodevelopmental disorder with cerebellar atrophy and with or without seizures' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://purl.obolibrary.org/obo/MONDO_0005232 large cell carcinoma 'large cell carcinoma' SubClassOf 'carcinoma' 'large cell carcinoma' SubClassOf 'carcinoma' http://www.orpha.net/ORDO/Orphanet_325004 CANDLE syndrome 'CANDLE syndrome' SubClassOf 'Proteasome disability syndrome' 'CANDLE syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_254525 Paternal 14q32.2 microdeletion syndrome 'Paternal 14q32.2 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 14' 'Paternal 14q32.2 microdeletion syndrome' SubClassOf 'Motor developmental delay due to 14q32.2 paternally expressed gene defect' 'Paternal 14q32.2 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 14' 'Paternal 14q32.2 microdeletion syndrome' SubClassOf 'Motor developmental delay due to 14q32.2 paternally expressed gene defect' http://www.orpha.net/ORDO/Orphanet_254519 Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect 'Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' SubClassOf 'syndromic intellectual disability' 'Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '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 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_254516 Motor developmental delay due to 14q32.2 paternally expressed gene defect 'Motor developmental delay due to 14q32.2 paternally expressed gene defect' SubClassOf 'Syndromic obesity' 'Motor developmental delay due to 14q32.2 paternally expressed gene defect' SubClassOf 'syndromic intellectual disability' 'Motor developmental delay due to 14q32.2 paternally expressed gene defect' SubClassOf 'Syndromic obesity' http://www.orpha.net/ORDO/Orphanet_156071 Keratoconus 'Keratoconus' SubClassOf 'has modifier' some 'rare' 'Keratoconus' SubClassOf 'corneal disease' 'Keratoconus' SubClassOf 'corneal disease' http://purl.obolibrary.org/obo/MONDO_0017234 inherited prion disease 'inherited prion disease' SubClassOf 'Genetic dementia' 'inherited prion disease' SubClassOf 'Genetic neurodegenerative disease' 'inherited prion disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015547 'inherited prion disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024237 http://purl.obolibrary.org/obo/MONDO_0032899 neutropenia, severe congenital, 8, autosomal dominant 'neutropenia, severe congenital, 8, autosomal dominant' SubClassOf 'Severe congenital neutropenia' 'neutropenia, severe congenital, 8, autosomal dominant' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018542 http://www.orpha.net/ORDO/Orphanet_183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency 'Recurrent infections associated with rare immunoglobulin isotypes deficiency' SubClassOf 'Immunodeficiency predominantly affecting antibody production' http://www.orpha.net/ORDO/Orphanet_183666 Hyper-IgM syndrome without susceptibility to opportunistic infections 'Hyper-IgM syndrome with susceptibility to opportunistic infections' DisjointWith 'Hyper-IgM syndrome without susceptibility to opportunistic infections' 'Hyper-IgM syndrome without susceptibility to opportunistic infections' SubClassOf 'hyper-IgM syndrome' http://www.orpha.net/ORDO/Orphanet_183669 Agammaglobulinemia 'Agammaglobulinemia' SubClassOf 'Immunodeficiency predominantly affecting antibody production' 'Agammaglobulinemia' SubClassOf 'B cell deficiency' 'Agammaglobulinemia' SubClassOf 'Immunodeficiency predominantly affecting antibody production' http://purl.obolibrary.org/obo/MONDO_0017258 idiopathic panuveitis 'idiopathic panuveitis' SubClassOf 'panuveitis' 'idiopathic panuveitis' SubClassOf 'panuveitis' http://www.orpha.net/ORDO/Orphanet_171690 Metabolic myopathy due to lactate transporter defect 'Metabolic myopathy due to lactate transporter defect' SubClassOf 'Metabolic myopathy' 'Metabolic myopathy due to lactate transporter defect' SubClassOf 'Metabolic myopathy' http://purl.obolibrary.org/obo/MONDO_0017256 idiopathic anterior uveitis 'idiopathic anterior uveitis' SubClassOf 'anterior uveitis' 'idiopathic anterior uveitis' SubClassOf 'anterior uveitis' http://purl.obolibrary.org/obo/MONDO_0032894 neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy 'neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy' SubClassOf 'Rare genetic neurological disorder' 'neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://purl.obolibrary.org/obo/MONDO_0032891 aneurysm, intracranial berry, 12 'aneurysm, intracranial berry, 12' SubClassOf 'Familial cerebral saccular aneurysm' 'aneurysm, intracranial berry, 12' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016483 http://www.orpha.net/ORDO/Orphanet_171695 Parkinsonian-pyramidal syndrome 'Parkinsonian-pyramidal syndrome' SubClassOf 'predisposes towards' some 'Young adult-onset Parkinsonism' 'Parkinsonian-pyramidal syndrome' SubClassOf 'Parkinson disease' http://purl.obolibrary.org/obo/MONDO_0032888 neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies 'neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies' SubClassOf 'Rare genetic neurological disorder' 'neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://purl.obolibrary.org/obo/MONDO_0032889 Poirier-Bienvenu neurodevelopmental syndrome 'Poirier-Bienvenu neurodevelopmental syndrome' SubClassOf 'Rare genetic neurological disorder' 'Poirier-Bienvenu neurodevelopmental syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://purl.obolibrary.org/obo/MONDO_0032887 neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity 'neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity' SubClassOf 'Rare genetic neurological disorder' 'neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.orpha.net/ORDO/Orphanet_183681 Functional neutrophil defect 'Functional neutrophil defect' SubClassOf 'quantitative and/or qualitative congenital phagocyte defect' 'Functional neutrophil defect' SubClassOf 'Primary immunodeficiency due to a defect in innate immunity' http://www.orpha.net/ORDO/Orphanet_183678 Hermansky-Pudlak syndrome with neutropenia 'Hermansky-Pudlak syndrome with neutropenia' SubClassOf 'Constitutional neutropenia' 'Hermansky-Pudlak syndrome with neutropenia' SubClassOf 'Hermansky-Pudlak syndrome' 'Hermansky-Pudlak syndrome with neutropenia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019312 http://www.orpha.net/ORDO/Orphanet_624 Familial multiple nevi flammei 'Familial multiple nevi flammei' SubClassOf 'Genetic vascular anomaly' 'Familial multiple nevi flammei' SubClassOf 'genetic skin disease' 'Familial multiple nevi flammei' SubClassOf 'capillary malformation' 'Familial multiple nevi flammei' SubClassOf 'skin vascular disease' 'Familial multiple nevi flammei' SubClassOf 'vascular ectasia' http://www.orpha.net/ORDO/Orphanet_622 Homocystinuria without methylmalonic aciduria 'Homocystinuria without methylmalonic aciduria' SubClassOf 'Cerebral organic aciduria' 'Methylmalonic acidemia with homocystinuria' DisjointWith 'Homocystinuria without methylmalonic aciduria' 'Homocystinuria without methylmalonic aciduria' SubClassOf 'autosomal recessive disease' 'Homocystinuria without methylmalonic aciduria' SubClassOf 'homocystinuria' 'Homocystinuria without methylmalonic aciduria' SubClassOf 'Neurometabolic disease' 'Homocystinuria without methylmalonic aciduria' SubClassOf 'Disorder of cobalamin metabolism and transport' 'Homocystinuria without methylmalonic aciduria' SubClassOf 'Neurometabolic disease' 'Homocystinuria without methylmalonic aciduria' SubClassOf 'Disorder of methionine cycle and sulfur amino acid metabolism' 'Homocystinuria without methylmalonic aciduria' SubClassOf 'Disorder of cobalamin metabolism and transport' http://www.orpha.net/ORDO/Orphanet_621 Hereditary methemoglobinemia 'Hereditary methemoglobinemia' SubClassOf 'inherited hemoglobinopathy' 'Hereditary methemoglobinemia' SubClassOf 'anemia' 'Hereditary methemoglobinemia' EquivalentTo 'methemoglobinemia' and ('has modifier' some 'inherited') 'Hereditary methemoglobinemia' SubClassOf 'methemoglobinemia' http://www.orpha.net/ORDO/Orphanet_620 Common mesentery 'Common mesentery' SubClassOf 'Non-syndromic intestinal malformation' 'Common mesentery' SubClassOf 'Non-syndromic intestinal malformation' http://www.orpha.net/ORDO/Orphanet_156156 Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy 'Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy' SubClassOf 'Genetic lipodystrophy' 'Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy' SubClassOf 'Genetic lipodystrophy' http://purl.obolibrary.org/obo/MONDO_0017278 autoimmune polyendocrinopathy 'autoimmune polyendocrinopathy' SubClassOf 'syndromic disease' 'autoimmune polyendocrinopathy' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_618 Familial melanoma 'Familial melanoma' SubClassOf 'melanoma' 'Familial melanoma' EquivalentTo 'melanoma' and ('has modifier' some 'inherited') 'Familial melanoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018961 http://www.orpha.net/ORDO/Orphanet_617 Congenital primary megaureter 'Congenital primary megaureter' SubClassOf 'Genetic non-syndromic renal or urinary tract malformation' 'Congenital primary megaureter' SubClassOf 'non-syndromic urogenital tract malformation of male and female' 'Congenital primary megaureter' SubClassOf 'Genetic non-syndromic renal or urinary tract malformation' http://www.orpha.net/ORDO/Orphanet_156159 Isolated dystonia 'Isolated dystonia' SubClassOf 'Rare genetic dystonia' 'Isolated dystonia' EquivalentTo 'dystonic disorder' and ('has modifier' some 'has an isolated presentation') 'Isolated dystonia' SubClassOf 'has modifier' some 'has an isolated presentation' 'Isolated dystonia' SubClassOf 'Rare genetic dystonia' http://www.orpha.net/ORDO/Orphanet_615 Familial atrial myxoma 'Familial atrial myxoma' SubClassOf 'Genetic cardiac tumor' 'Familial atrial myxoma' SubClassOf 'Genetic cardiac tumor' http://www.orpha.net/ORDO/Orphanet_614 Thomsen and Becker disease 'Thomsen and Becker disease' SubClassOf 'muscular channelopathy' 'Thomsen and Becker disease' SubClassOf 'Congenital myotonia' 'Thomsen and Becker disease' SubClassOf 'congenital nervous system disorder' 'Thomsen and Becker disease' SubClassOf 'Genetic muscular channelopathy' 'Thomsen and Becker disease' SubClassOf 'Congenital myopathy' 'Thomsen and Becker disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_634 Netherton syndrome 'Netherton syndrome' SubClassOf 'autosomal recessive disease' 'Netherton syndrome' SubClassOf 'Eyebrow/eyelashes structural anomaly' 'Netherton syndrome' SubClassOf 'Ichthyosis associated with ocular features' 'Netherton syndrome' SubClassOf 'Autosomal ichthyosis syndrome with prominent hair abnormalities' 'Netherton syndrome' SubClassOf 'Hyper-IgE syndrome' 'Netherton syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017292 well-differentiated fetal adenocarcinoma of the lung 'well-differentiated fetal adenocarcinoma of the lung' SubClassOf 'lung adenocarcinoma' 'well-differentiated fetal adenocarcinoma of the lung' SubClassOf 'lung adenocarcinoma' http://www.orpha.net/ORDO/Orphanet_633 Laron syndrome 'Laron syndrome' SubClassOf 'autosomal recessive disease' 'Laron syndrome' SubClassOf 'Growth hormone insensitivity syndrome' 'Laron syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_632 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 'Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia' SubClassOf 'Isolated growth hormone deficiency type III' 'Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia' SubClassOf 'congenital agammaglobulinemia' 'Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia' SubClassOf 'Isolated growth hormone deficiency type III' http://www.orpha.net/ORDO/Orphanet_32960 Tumor necrosis factor receptor 1 associated periodic syndrome 'Tumor necrosis factor receptor 1 associated periodic syndrome' SubClassOf 'Hereditary periodic fever syndrome' 'Tumor necrosis factor receptor 1 associated periodic syndrome' SubClassOf 'Hereditary periodic fever syndrome' http://www.orpha.net/ORDO/Orphanet_629 Short stature due to growth hormone qualitative anomaly 'Short stature due to growth hormone qualitative anomaly' SubClassOf 'isolated congenital growth hormone deficiency' http://www.orpha.net/ORDO/Orphanet_628 Diastrophic dwarfism 'Diastrophic dwarfism' SubClassOf 'Sulfation-related bone disorder' 'Diastrophic dwarfism' SubClassOf 'osteochondrodysplasia' 'Diastrophic dwarfism' SubClassOf 'Sulfation-related bone disorder' http://www.orpha.net/ORDO/Orphanet_627 Nance-Horan syndrome 'Nance-Horan syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Nance-Horan syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Nance-Horan syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' 'Nance-Horan syndrome' SubClassOf 'Dentocutaneous disease with cataract' 'Nance-Horan syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Nance-Horan syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_626 Large congenital melanocytic nevus 'Large congenital melanocytic nevus' SubClassOf 'melanocytic nevus' 'Large congenital melanocytic nevus' SubClassOf 'Genetic skin tumor' 'Large congenital melanocytic nevus' SubClassOf 'has modifier' some 'congenital' 'Large congenital melanocytic nevus' SubClassOf 'melanocytic nevus' 'Large congenital melanocytic nevus' SubClassOf 'Genetic skin tumor' 'Large congenital melanocytic nevus' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_646 Niemann-Pick disease type C 'Niemann-Pick disease type C' SubClassOf 'Niemann-Pick disease' 'Niemann-Pick disease type C' SubClassOf 'tauopathy' 'Niemann-Pick disease type C' SubClassOf 'Neurometabolic disease' 'Niemann-Pick disease type C' SubClassOf 'Genetic neurodegenerative disease' 'Niemann-Pick disease type C' SubClassOf 'realized in' some ('disease course' and ('has_part' some 'microtubule-associated protein tau')) 'Niemann-Pick disease type C' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_644 NARP syndrome 'NARP syndrome' SubClassOf 'metabolic epilepsy' 'NARP syndrome' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' 'NARP syndrome' SubClassOf 'Neurometabolic disease' 'NARP syndrome' SubClassOf 'Mitochondrial disease with eye involvement' 'NARP syndrome' SubClassOf 'Metabolic disease with pigmentary retinitis' 'NARP syndrome' SubClassOf 'Mitochondrial disease with peripheral neuropathy' 'NARP syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_643 Giant axonal neuropathy 'Giant axonal neuropathy' SubClassOf 'axonal neuropathy' http://www.orpha.net/ORDO/Orphanet_642 Hereditary sensory and autonomic neuropathy type 4 'Hereditary sensory and autonomic neuropathy type 4' SubClassOf 'Autosomal recessive hereditary sensory and autonomic neuropathy' 'Hereditary sensory and autonomic neuropathy type 4' SubClassOf 'Autosomal recessive hereditary sensory and autonomic neuropathy' http://www.orpha.net/ORDO/Orphanet_640 Hereditary neuropathy with liability to pressure palsies 'Hereditary neuropathy with liability to pressure palsies' SubClassOf 'Autosomal dominant hereditary demyelinating motor and sensory neuropathy' 'Hereditary neuropathy with liability to pressure palsies' SubClassOf 'chromosome 17p deletion' 'Hereditary neuropathy with liability to pressure palsies' SubClassOf 'Autosomal dominant hereditary demyelinating motor and sensory neuropathy' http://www.orpha.net/ORDO/Orphanet_638 Neurofibromatosis-Noonan syndrome 'Neurofibromatosis-Noonan syndrome' SubClassOf 'has modifier' some 'rare' 'Neurofibromatosis-Noonan syndrome' SubClassOf 'developmental defect during embryogenesis' 'Neurofibromatosis-Noonan syndrome' SubClassOf 'rasopathy' 'Neurofibromatosis-Noonan syndrome' SubClassOf 'Genetic hyperpigmentation of the skin' 'Neurofibromatosis-Noonan syndrome' SubClassOf 'Genetic hyperpigmentation of the skin' http://www.orpha.net/ORDO/Orphanet_637 Neurofibromatosis type 2 'Neurofibromatosis type 2' SubClassOf 'neurofibromatosis' 'Neurofibromatosis type 2' SubClassOf 'Syndromic genetic deafness' 'Neurofibromatosis type 2' SubClassOf 'Syndromic genetic deafness' 'Neurofibromatosis type 2' SubClassOf 'Inherited cancer-predisposing syndrome' http://www.orpha.net/ORDO/Orphanet_636 Neurofibromatosis type 1 'Neurofibromatosis type 1' SubClassOf 'Genetic hypertension' 'Neurofibromatosis type 1' SubClassOf 'neurovascular disorder' 'Neurofibromatosis type 1' SubClassOf 'neurocristopathy' 'Neurofibromatosis type 1' SubClassOf 'rasopathy' 'Neurofibromatosis type 1' SubClassOf 'disease has feature' some 'Genetic hyperpigmentation of the skin' 'Neurofibromatosis type 1' SubClassOf 'developmental defect during embryogenesis' 'Neurofibromatosis type 1' SubClassOf 'neurofibromatosis' 'Neurofibromatosis type 1' SubClassOf 'Genetic hypertension' 'Neurofibromatosis type 1' SubClassOf 'Inherited cancer-predisposing syndrome' http://www.orpha.net/ORDO/Orphanet_657 Congenital isolated hyperinsulinism 'Congenital isolated hyperinsulinism' SubClassOf 'Developmental anomaly of metabolic origin' 'Congenital isolated hyperinsulinism' SubClassOf 'Familial hyperinsulinism' 'Congenital isolated hyperinsulinism' SubClassOf 'Overgrowth syndrome' 'Congenital isolated hyperinsulinism' SubClassOf 'islet cell adenomatosis' 'Congenital isolated hyperinsulinism' SubClassOf 'Familial hyperinsulinism' 'Congenital isolated hyperinsulinism' SubClassOf 'Overgrowth syndrome' http://www.orpha.net/ORDO/Orphanet_656 Familial idiopathic steroid-resistant nephrotic syndrome 'Familial idiopathic steroid-resistant nephrotic syndrome' SubClassOf 'idiopathic nephrotic syndrome' 'Familial idiopathic steroid-resistant nephrotic syndrome' EquivalentTo 'idiopathic nephrotic syndrome' and 'steroid-resistant nephrotic syndrome' and ('has modifier' some 'inherited') 'Familial idiopathic steroid-resistant nephrotic syndrome' SubClassOf 'steroid-resistant nephrotic syndrome' 'Familial idiopathic steroid-resistant nephrotic syndrome' SubClassOf 'Primary glomerular disease' http://www.orpha.net/ORDO/Orphanet_655 Nephronophthisis 'Nephronophthisis' SubClassOf 'autosomal recessive disease' 'Nephronophthisis' SubClassOf 'Genetic renal tubular disease' http://www.orpha.net/ORDO/Orphanet_654 Nephroblastoma 'Nephroblastoma' SubClassOf 'Malignant Mixed Neoplasm' 'Nephroblastoma' SubClassOf 'kidney cancer' 'Nephroblastoma' SubClassOf 'embryonal neoplasm' 'Nephroblastoma' SubClassOf 'Malignant Mixed Neoplasm' 'Nephroblastoma' SubClassOf 'embryonal neoplasm' http://www.orpha.net/ORDO/Orphanet_653 Multiple endocrine neoplasia type 2 'Multiple endocrine neoplasia type 2' SubClassOf 'inherited digestive cancer-predisposing syndrome' 'Multiple endocrine neoplasia type 2' SubClassOf 'thyroid carcinoma' 'Multiple endocrine neoplasia type 2' SubClassOf 'Multiple endocrine neoplasia' 'Multiple endocrine neoplasia type 2' SubClassOf 'thyroid carcinoma' 'Multiple endocrine neoplasia type 2' SubClassOf 'Multiple endocrine neoplasia' http://www.orpha.net/ORDO/Orphanet_652 Multiple endocrine neoplasia type 1 'Multiple endocrine neoplasia type 1' SubClassOf 'inherited digestive cancer-predisposing syndrome' 'Multiple endocrine neoplasia type 1' SubClassOf 'autosomal dominant disease' 'Multiple endocrine neoplasia type 1' SubClassOf 'Multiple endocrine neoplasia' 'Multiple endocrine neoplasia type 1' SubClassOf 'Familial primary hyperparathyroidism' 'Multiple endocrine neoplasia type 1' SubClassOf 'adrenal/paraganglial tumor' 'Multiple endocrine neoplasia type 1' SubClassOf 'Multiple endocrine neoplasia' 'Multiple endocrine neoplasia type 1' SubClassOf 'neoplasm' http://www.orpha.net/ORDO/Orphanet_650 LCAT deficiency 'LCAT deficiency' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'LCAT deficiency' SubClassOf 'Hypoalphalipoproteinemia' 'LCAT deficiency' SubClassOf 'Metabolic disease with corneal opacity' 'LCAT deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_649 Norrie disease 'Norrie disease' SubClassOf 'Syndromic genetic deafness' 'Norrie disease' SubClassOf 'Syndromic developmental defect of the eye' 'Norrie disease' SubClassOf 'Congenital vitreoretinal dysplasia' 'Norrie disease' SubClassOf 'X-linked deafness' 'Norrie disease' SubClassOf 'X-linked syndromic intellectual disability' 'Norrie disease' SubClassOf 'Syndromic cataract' 'Norrie disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_648 Noonan syndrome 'Noonan syndrome' SubClassOf 'Malposition of external canthus' 'Noonan syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Noonan syndrome' SubClassOf 'neurovascular disorder' 'Noonan syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' 'Noonan syndrome' SubClassOf 'Milroy disease' 'Noonan syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Noonan syndrome' SubClassOf 'Eyelids malposition disorder' 'Noonan syndrome' SubClassOf 'Syndromic lymphedema' 'Noonan syndrome' SubClassOf 'Ptosis' 'Noonan syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Noonan syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Noonan syndrome' SubClassOf 'Noonan syndrome and Noonan-related syndrome' 'Noonan syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'Noonan syndrome' SubClassOf 'Rare disorder with hypergonadotropic hypogonadism' 'Noonan syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_647 Nijmegen breakage syndrome 'Nijmegen breakage syndrome' SubClassOf 'Developmental anomaly of metabolic origin' 'Nijmegen breakage syndrome' SubClassOf 'DNA repair deficiency' 'Nijmegen breakage syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Nijmegen breakage syndrome' SubClassOf 'autosomal recessive disease' 'Nijmegen breakage syndrome' SubClassOf 'DNA repair defect other than combined T-cell and B-cell immunodeficiencies' 'Nijmegen breakage syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Nijmegen breakage syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_667 Autosomal recessive malignant osteopetrosis 'Autosomal recessive malignant osteopetrosis' SubClassOf 'autosomal recessive disease' 'Autosomal recessive malignant osteopetrosis' SubClassOf 'Osteopetrosis' 'Autosomal recessive malignant osteopetrosis' SubClassOf 'Autosomal recessive syndromic optic atrophy' 'Autosomal recessive malignant osteopetrosis' SubClassOf 'Optic neuropathy' 'Autosomal recessive malignant osteopetrosis' SubClassOf 'Osteopetrosis' 'Autosomal recessive malignant osteopetrosis' SubClassOf 'syndromic hereditary optic neuropathy' http://www.orpha.net/ORDO/Orphanet_666 Osteogenesis imperfecta 'Osteogenesis imperfecta' SubClassOf 'osteochondrodysplasia' http://www.orpha.net/ORDO/Orphanet_665 Albright hereditary osteodystrophy 'Albright hereditary osteodystrophy' SubClassOf 'Pseudohypoparathyroidism' 'Albright hereditary osteodystrophy' SubClassOf 'genetic skin disease' 'Albright hereditary osteodystrophy' SubClassOf 'Genetic dermis disorder' 'Albright hereditary osteodystrophy' SubClassOf 'Syndromic obesity' 'Albright hereditary osteodystrophy' SubClassOf 'Acromelic dysplasia' 'Albright hereditary osteodystrophy' SubClassOf 'dermis disorder' 'Albright hereditary osteodystrophy' SubClassOf 'Pseudohypoparathyroidism' 'Albright hereditary osteodystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019276 'Albright hereditary osteodystrophy' SubClassOf 'Syndromic obesity' http://www.orpha.net/ORDO/Orphanet_663 Maternally-inherited progressive external ophthalmoplegia 'Maternally-inherited progressive external ophthalmoplegia' SubClassOf 'Eyelids malposition disorder' 'Maternally-inherited progressive external ophthalmoplegia' SubClassOf 'Mitochondrial myopathy' 'Maternally-inherited progressive external ophthalmoplegia' SubClassOf 'Mitochondrial myopathy' http://www.orpha.net/ORDO/Orphanet_661 Ondine syndrome 'Ondine syndrome' SubClassOf 'has modifier' some 'rare' 'Ondine syndrome' SubClassOf 'syndromic disease' 'Ondine syndrome' SubClassOf 'autonomic nervous system disease' 'Ondine syndrome' SubClassOf 'neurocristopathy' 'Ondine syndrome' SubClassOf 'congenital nervous system disorder' 'Ondine syndrome' SubClassOf 'autonomic nervous system disease' 'Ondine syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.orpha.net/ORDO/Orphanet_325061 46,XX disorder of sex development induced by fetoplacental androgens excess '46,XX disorder of sex development induced by fetoplacental androgens excess' SubClassOf 'has modifier' some 'rare' '46,XX disorder of sex development induced by fetoplacental androgens excess' SubClassOf 'Genetic disorder of sex development of gynecological interest' '46,XX disorder of sex development induced by fetoplacental androgens excess' SubClassOf 'female reproductive system disease' '46,XX disorder of sex development induced by fetoplacental androgens excess' SubClassOf '46,XX disorder of sex development induced by androgens excess' '46,XX disorder of sex development induced by fetoplacental androgens excess' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques 'Mutilating palmoplantar keratoderma with periorificial keratotic plaques' SubClassOf 'Autosomal dominant diffuse mutilating palmoplantar keratoderma' 'Mutilating palmoplantar keratoderma with periorificial keratotic plaques' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_679 Malignant atrophic papulosis 'Malignant atrophic papulosis' SubClassOf 'genetic skin disease' 'Malignant atrophic papulosis' SubClassOf 'has modifier' some 'rare' 'Malignant atrophic papulosis' SubClassOf 'skin vascular disease' http://www.orpha.net/ORDO/Orphanet_678 Papillon-Lefèvre syndrome 'Papillon-Lefèvre syndrome' SubClassOf 'Diffuse palmoplantar keratoderma' 'Papillon-Lefèvre syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Papillon-Lefèvre syndrome' SubClassOf 'Disorder of lysosomal-related organelles' 'Papillon-Lefèvre syndrome' SubClassOf 'periodontal disorder' 'Papillon-Lefèvre syndrome' SubClassOf 'autosomal recessive disease' 'Papillon-Lefèvre syndrome' SubClassOf 'Functional neutrophil defect' 'Papillon-Lefèvre syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Papillon-Lefèvre syndrome' SubClassOf 'Disorder of lysosomal-related organelles' 'Papillon-Lefèvre syndrome' SubClassOf 'Functional neutrophil defect' http://www.orpha.net/ORDO/Orphanet_676 Hereditary chronic pancreatitis 'Hereditary chronic pancreatitis' SubClassOf 'chronic pancreatitis' 'Hereditary chronic pancreatitis' SubClassOf 'diabetes mellitus' 'Hereditary chronic pancreatitis' SubClassOf 'has modifier' some 'rare' 'Hereditary chronic pancreatitis' EquivalentTo 'chronic pancreatitis' and ('has modifier' some 'inherited') http://www.orpha.net/ORDO/Orphanet_675 Annular pancreas 'Annular pancreas' SubClassOf 'Non-syndromic visceral malformation' 'Annular pancreas' SubClassOf 'Non-syndromic visceral malformation' http://www.orpha.net/ORDO/Orphanet_674 Accessory pancreas 'Accessory pancreas' SubClassOf 'Non-syndromic visceral malformation' 'Accessory pancreas' SubClassOf 'Non-syndromic visceral malformation' http://www.orpha.net/ORDO/Orphanet_672 Pallister-Hall syndrome 'Pallister-Hall syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'Pallister-Hall syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Pallister-Hall syndrome' SubClassOf 'Syndromic anorectal malformation' 'Pallister-Hall syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Pallister-Hall syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Pallister-Hall syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' 'Pallister-Hall syndrome' SubClassOf 'Disease associated with non-acquired combined pituitary hormone deficiency' 'Pallister-Hall syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_183731 Rare genetic gynecological and obstetrical diseases 'Rare genetic gynecological and obstetrical diseases' SubClassOf 'has_disease_location' some 'female reproductive system' 'Rare genetic gynecological and obstetrical diseases' SubClassOf 'genetic disorder' 'Rare genetic gynecological and obstetrical diseases' SubClassOf 'female reproductive system disease' 'Rare genetic gynecological and obstetrical diseases' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_325055 46,XX disorder of gonadal development '46,XX disorder of gonadal development' SubClassOf 'Genetic 46,XX disorder of sex development' '46,XX disorder of gonadal development' SubClassOf 'has modifier' some 'rare' '46,XX disorder of gonadal development' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_669 Otopalatodigital syndrome 'Otopalatodigital syndrome' SubClassOf 'X-linked deafness' 'Otopalatodigital syndrome' SubClassOf 'congenital nervous system disorder' 'Otopalatodigital syndrome' SubClassOf 'otopalatodigital syndrome spectrum disorder' 'Otopalatodigital syndrome' SubClassOf 'Frontootopalatodigital syndrome' 'Otopalatodigital syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Otopalatodigital syndrome' SubClassOf 'Syndromic genetic deafness' 'Otopalatodigital syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Otopalatodigital syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Otopalatodigital syndrome' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Otopalatodigital syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_685 Hereditary spastic paraplegia 'Hereditary spastic paraplegia' SubClassOf 'paraplegia' 'Hereditary spastic paraplegia' SubClassOf 'Genetic neurodegenerative disease' 'Hereditary spastic paraplegia' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_171723 White sponge nevus 'White sponge nevus' SubClassOf 'hereditary mucosal leukokeratosis' 'White sponge nevus' SubClassOf 'Genetic skin tumor' 'White sponge nevus' SubClassOf 'melanocytic nevus' 'White sponge nevus' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_684 Paramyotonia congenita of Von Eulenburg 'Paramyotonia congenita of Von Eulenburg' SubClassOf 'Myotonic syndrome' 'Paramyotonia congenita of Von Eulenburg' SubClassOf 'muscular channelopathy' 'Paramyotonia congenita of Von Eulenburg' SubClassOf 'Myotonic syndrome' http://www.orpha.net/ORDO/Orphanet_683 Progressive supranuclear palsy 'Progressive supranuclear palsy' SubClassOf 'syndromic disease' 'Progressive supranuclear palsy' SubClassOf 'eye degenerative disorder' 'Progressive supranuclear palsy' SubClassOf 'Supranuclear oculomotor palsy' 'Progressive supranuclear palsy' SubClassOf 'disease arises from feature' some 'neurodegenerative disease' 'Progressive supranuclear palsy' SubClassOf 'Supranuclear oculomotor palsy' 'Progressive supranuclear palsy' SubClassOf 'mental or behavioural disorder' http://www.orpha.net/ORDO/Orphanet_682 Hyperkalemic periodic paralysis 'Hyperkalemic periodic paralysis' SubClassOf 'periodic paralysis' 'Hypokalemic periodic paralysis' DisjointWith 'Hyperkalemic periodic paralysis' 'Hyperkalemic periodic paralysis' SubClassOf 'familial periodic paralysis' http://www.orpha.net/ORDO/Orphanet_681 Hypokalemic periodic paralysis 'Hypokalemic periodic paralysis' SubClassOf 'familial periodic paralysis' 'Hypokalemic periodic paralysis' SubClassOf 'periodic paralysis' 'Hypokalemic periodic paralysis' DisjointWith 'Hyperkalemic periodic paralysis' 'Hypokalemic periodic paralysis' SubClassOf 'potassium deficiency disease' http://www.orpha.net/ORDO/Orphanet_183707 Neutrophil immunodeficiency syndrome 'Neutrophil immunodeficiency syndrome' SubClassOf 'Functional neutrophil defect' 'Neutrophil immunodeficiency syndrome' SubClassOf 'T-B- severe combined immunodeficiency' 'Neutrophil immunodeficiency syndrome' SubClassOf 'Functional neutrophil defect' http://www.orpha.net/ORDO/Orphanet_699 Pearson syndrome 'Pearson syndrome' SubClassOf 'Constitutional sideroblastic anemia' 'Pearson syndrome' SubClassOf 'Metabolic disease with intestinal involvement' 'Pearson syndrome' SubClassOf 'Syndrome with hypoparathyroidism' 'Pearson syndrome' SubClassOf 'Mitochondrial disease with eye involvement' 'Pearson syndrome' SubClassOf 'Constitutional neutropenia with extra-haematopoietic manifestations' 'Pearson syndrome' SubClassOf 'syndromic disease' 'Pearson syndrome' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA' 'Pearson syndrome' SubClassOf 'congenital anemia' 'Pearson syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_217566 Chronic respiratory distress with surfactant metabolism deficiency 'Chronic respiratory distress with surfactant metabolism deficiency' SubClassOf 'primary interstitial lung disease in childhood and adulthood' 'Chronic respiratory distress with surfactant metabolism deficiency' SubClassOf 'Congenital pulmonary alveolar proteinosis' 'Chronic respiratory distress with surfactant metabolism deficiency' SubClassOf 'Genetic interstitial lung disease' http://www.orpha.net/ORDO/Orphanet_183710 Genetic susceptibility to infections due to particular pathogens 'Genetic susceptibility to infections due to particular pathogens' SubClassOf 'inherited disease susceptibility' 'Genetic susceptibility to infections due to particular pathogens' SubClassOf 'predisposes towards' some 'infectious disease' 'Genetic susceptibility to infections due to particular pathogens' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'infectious disease') http://www.orpha.net/ORDO/Orphanet_183713 Pyogenic bacterial infections due to MyD88 deficiency 'Pyogenic bacterial infections due to MyD88 deficiency' SubClassOf 'Genetic susceptibility to infections due to particular pathogens' 'Pyogenic bacterial infections due to MyD88 deficiency' SubClassOf 'Genetic susceptibility to infections due to particular pathogens' http://www.orpha.net/ORDO/Orphanet_217563 Neonatal acute respiratory distress with surfactant metabolism deficiency 'Neonatal acute respiratory distress with surfactant metabolism deficiency' SubClassOf 'Congenital pulmonary alveolar proteinosis' 'Neonatal acute respiratory distress with surfactant metabolism deficiency' SubClassOf 'Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies' http://www.ebi.ac.uk/efo/EFO_0001061 cervical carcinoma 'cervical carcinoma' SubClassOf 'cervical cancer' 'cervical carcinoma' SubClassOf 'cervical cancer' http://www.orpha.net/ORDO/Orphanet_93964 Blepharospasm - oromandibular dystonia 'Blepharospasm - oromandibular dystonia' SubClassOf 'Focal, segmental or multifocal dystonia' 'Blepharospasm - oromandibular dystonia' SubClassOf 'Focal, segmental or multifocal dystonia' http://www.orpha.net/ORDO/Orphanet_30391 Biliary atresia 'Biliary atresia' SubClassOf 'cholestasis' 'Biliary atresia' SubClassOf 'Non-Neoplastic Bile Duct Disorder' 'Biliary atresia' SubClassOf 'Genetic biliary tract disease' 'Biliary atresia' SubClassOf 'Non-syndromic visceral malformation' 'Biliary atresia' SubClassOf 'liver disease' 'Biliary atresia' SubClassOf 'biliary tract disease' http://www.orpha.net/ORDO/Orphanet_93963 Autosomal dominant focal dystonia, DYT7 type 'Autosomal dominant focal dystonia, DYT7 type' SubClassOf 'Focal, segmental or multifocal dystonia' 'Autosomal dominant focal dystonia, DYT7 type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93962 Autosomal dominant cervical dystonia 'Autosomal dominant cervical dystonia' SubClassOf 'Focal, segmental or multifocal dystonia' 'Autosomal dominant cervical dystonia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93961 Laryngeal dyskinesia 'Laryngeal dyskinesia' SubClassOf 'Focal, segmental or multifocal dystonia' 'Laryngeal dyskinesia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001064 Down syndrome 'Down syndrome' SubClassOf 'Total autosomal trisomy' 'Down syndrome' SubClassOf 'chromosome 21 disorder' 'Down syndrome' SubClassOf 'chromosome 21 disorder' http://www.orpha.net/ORDO/Orphanet_171703 Microcephaly - polymicrogyria - corpus callosum agenesis 'Microcephaly - polymicrogyria - corpus callosum agenesis' SubClassOf 'Rare genetic neurological disorder' 'Microcephaly - polymicrogyria - corpus callosum agenesis' SubClassOf 'disorder of development or morphogenesis' 'Microcephaly - polymicrogyria - corpus callosum agenesis' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency 'Short stature-delayed bone age due to thyroid hormone metabolism deficiency' SubClassOf 'Peripheral hypothyroidism' 'Short stature-delayed bone age due to thyroid hormone metabolism deficiency' SubClassOf 'Peripheral hypothyroidism' http://www.orpha.net/ORDO/Orphanet_171709 Male infertility due to globozoospermia 'Male infertility due to globozoospermia' SubClassOf 'Male infertility with teratozoospermia due to single gene mutation' 'Male infertility due to globozoospermia' SubClassOf 'Male infertility with teratozoospermia due to single gene mutation' http://www.orpha.net/ORDO/Orphanet_93969 Myelomeningocele 'Myelomeningocele' SubClassOf 'Spina bifida cystica' 'Myelomeningocele' SubClassOf 'Spina bifida cystica' http://www.orpha.net/ORDO/Orphanet_352636 Phalangeal microgeodic syndrome 'Phalangeal microgeodic syndrome' SubClassOf 'Primary osteolysis' 'Phalangeal microgeodic syndrome' SubClassOf 'Primary osteolysis' http://www.orpha.net/ORDO/Orphanet_352641 Autosomal recessive cerebellar ataxia with late-onset spasticity 'Autosomal recessive cerebellar ataxia with late-onset spasticity' SubClassOf 'Autosomal recessive metabolic cerebellar ataxia' 'Autosomal recessive cerebellar ataxia with late-onset spasticity' SubClassOf 'Sphingolipidosis' 'Autosomal recessive cerebellar ataxia with late-onset spasticity' SubClassOf 'Autosomal recessive metabolic cerebellar ataxia' 'Autosomal recessive cerebellar ataxia with late-onset spasticity' SubClassOf 'Sphingolipidosis' http://www.orpha.net/ORDO/Orphanet_93970 Holmes-Gang syndrome 'Holmes-Gang syndrome' SubClassOf 'X-linked intellectual disability - hypotonic face' 'Holmes-Gang syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93976 Anotia 'Anotia' SubClassOf 'developmental defect during embryogenesis' 'Anotia' SubClassOf 'genetic otorhinolaryngological malformation' http://www.orpha.net/ORDO/Orphanet_93975 Renier-Gabreels-Jasper syndrome 'Renier-Gabreels-Jasper syndrome' SubClassOf 'X-linked intellectual disability - hypotonic face' 'Renier-Gabreels-Jasper syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93974 Smith-Fineman-Myers syndrome 'Smith-Fineman-Myers syndrome' SubClassOf 'X-linked intellectual disability - hypotonic face' 'Smith-Fineman-Myers syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93973 Carpenter-Waziri syndrome 'Carpenter-Waziri syndrome' SubClassOf 'X-linked intellectual disability - hypotonic face' 'Carpenter-Waziri syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93972 Juberg-Marsidi syndrome 'Juberg-Marsidi syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'Juberg-Marsidi syndrome' SubClassOf 'X-linked intellectual disability - hypotonic face' 'Juberg-Marsidi syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_171714 Amish infantile epilepsy syndrome 'Amish infantile epilepsy syndrome' SubClassOf 'ST3GAL5-CDG' 'Amish infantile epilepsy syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93971 Chudley-Lowry-Hoar syndrome 'Chudley-Lowry-Hoar syndrome' SubClassOf 'X-linked intellectual disability - hypotonic face' 'Chudley-Lowry-Hoar syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001056 tuberculoid leprosy 'tuberculoid leprosy' SubClassOf 'leprosy' 'tuberculoid leprosy' SubClassOf 'leprosy' http://www.ebi.ac.uk/efo/EFO_0001055 borderline leprosy 'borderline leprosy' SubClassOf 'leprosy' 'borderline leprosy' SubClassOf 'leprosy' http://www.orpha.net/ORDO/Orphanet_171719 Cutis laxa-Marfanoid syndrome 'Cutis laxa-Marfanoid syndrome' SubClassOf 'developmental defect during embryogenesis' http://www.ebi.ac.uk/efo/EFO_0001057 lepromatous leprosy 'lepromatous leprosy' SubClassOf 'leprosy' 'lepromatous leprosy' SubClassOf 'leprosy' http://www.orpha.net/ORDO/Orphanet_352649 Brain dopamine-serotonin vesicular transport disease 'Brain dopamine-serotonin vesicular transport disease' SubClassOf 'Disorder of neurotransmitter metabolism and transport' 'Brain dopamine-serotonin vesicular transport disease' SubClassOf 'Disorder of neurotransmitter metabolism and transport' http://www.orpha.net/ORDO/Orphanet_352657 Hereditary benign intraepithelial dyskeratosis 'Hereditary benign intraepithelial dyskeratosis' SubClassOf 'Superficial corneal dystrophy' 'Hereditary benign intraepithelial dyskeratosis' SubClassOf 'Syndromic corneal dystrophy' 'Hereditary benign intraepithelial dyskeratosis' SubClassOf 'Superficial corneal dystrophy' http://www.orpha.net/ORDO/Orphanet_352654 Early-onset progressive neurodegeneration - blindness - ataxia - spasticity 'Early-onset progressive neurodegeneration - blindness - ataxia - spasticity' SubClassOf 'Autosomal recessive syndromic optic atrophy' 'Early-onset progressive neurodegeneration - blindness - ataxia - spasticity' SubClassOf 'eye degenerative disorder' 'Early-onset progressive neurodegeneration - blindness - ataxia - spasticity' SubClassOf 'Complex hereditary spastic paraplegia' 'Early-onset progressive neurodegeneration - blindness - ataxia - spasticity' SubClassOf 'syndromic hereditary optic neuropathy' 'Early-onset progressive neurodegeneration - blindness - ataxia - spasticity' SubClassOf 'facial paralysis' 'Early-onset progressive neurodegeneration - blindness - ataxia - spasticity' SubClassOf 'syndromic hereditary optic neuropathy' 'Early-onset progressive neurodegeneration - blindness - ataxia - spasticity' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_54370 Primary membranoproliferative glomerulonephritis 'Primary membranoproliferative glomerulonephritis' SubClassOf 'Primary glomerular disease' 'Primary membranoproliferative glomerulonephritis' SubClassOf 'glomerulonephritis' 'Primary membranoproliferative glomerulonephritis' SubClassOf 'hereditary nephritis' 'Primary membranoproliferative glomerulonephritis' SubClassOf 'Primary glomerular disease' http://www.orpha.net/ORDO/Orphanet_352665 9q21 microdeletion syndrome '9q21 microdeletion syndrome' SubClassOf 'Partial monosomy of the long arm of chromosome 9' '9q21 microdeletion syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' '9q21 microdeletion syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_352662 Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis 'Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis' SubClassOf 'Diffuse palmoplantar keratoderma' 'Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis' SubClassOf 'Superficial corneal dystrophy' 'Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis' SubClassOf 'Superficial corneal dystrophy' http://www.ebi.ac.uk/efo/EFO_0001071 lung carcinoma 'lung carcinoma' SubClassOf 'carcinoma' 'lung carcinoma' SubClassOf 'lung cancer' 'lung carcinoma' SubClassOf 'carcinoma' 'lung carcinoma' SubClassOf 'lung cancer' http://www.ebi.ac.uk/efo/EFO_0001075 ovarian carcinoma 'ovarian carcinoma' SubClassOf 'Malignant epithelial tumor of ovary' 'ovarian carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018364 'ovarian carcinoma' SubClassOf 'Malignant epithelial tumor of ovary' http://www.orpha.net/ORDO/Orphanet_352675 X-linked Charcot-Marie-Tooth disease type 6 'X-linked Charcot-Marie-Tooth disease type 6' SubClassOf 'X-linked Charcot-Marie-Tooth disease' 'X-linked Charcot-Marie-Tooth disease type 6' SubClassOf 'X-linked Charcot-Marie-Tooth disease' http://www.orpha.net/ORDO/Orphanet_352670 Autosomal dominant intermediate Charcot-Marie-Tooth disease type F 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type F' SubClassOf 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type F' SubClassOf 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/UBERON_0001890 forebrain 'forebrain' DisjointWith 'brainstem' http://www.orpha.net/ORDO/Orphanet_93921 Neurofibromatosis type 3 'Neurofibromatosis type 3' SubClassOf 'schwannoma' 'Neurofibromatosis type 3' SubClassOf 'Genetic skin tumor' 'Neurofibromatosis type 3' SubClassOf 'neurofibromatosis' 'Neurofibromatosis type 3' SubClassOf 'Genetic hyperpigmentation of the skin' 'Neurofibromatosis type 3' SubClassOf 'developmental defect during embryogenesis' 'Neurofibromatosis type 3' SubClassOf 'Genetic hyperpigmentation of the skin' 'Neurofibromatosis type 3' SubClassOf 'Inherited cancer-predisposing syndrome' http://www.orpha.net/ORDO/Orphanet_93929 Cloacal exstrophy 'Cloacal exstrophy' SubClassOf 'syndromic diaphragmatic or abdominal wall malformation' 'Cloacal exstrophy' SubClassOf 'Exstrophy-epispadias complex' 'Cloacal exstrophy' SubClassOf 'Syndromic anorectal malformation' 'Cloacal exstrophy' SubClassOf 'Syndromic urogenital tract malformation' 'Cloacal exstrophy' SubClassOf 'Exstrophy-epispadias complex' 'Cloacal exstrophy' SubClassOf 'Syndromic anorectal malformation' http://www.orpha.net/ORDO/Orphanet_93928 Epispadias 'Epispadias' SubClassOf 'Exstrophy-epispadias complex' 'Epispadias' SubClassOf 'Exstrophy-epispadias complex' http://www.orpha.net/ORDO/Orphanet_93926 Midline interhemispheric variant of holoprosencephaly 'Midline interhemispheric variant of holoprosencephaly' SubClassOf 'Holoprosencephaly' 'Midline interhemispheric variant of holoprosencephaly' SubClassOf 'Holoprosencephaly' http://www.orpha.net/ORDO/Orphanet_93925 Alobar holoprosencephaly 'Alobar holoprosencephaly' SubClassOf 'Holoprosencephaly' 'Alobar holoprosencephaly' SubClassOf 'Holoprosencephaly' http://www.orpha.net/ORDO/Orphanet_93924 Lobar holoprosencephaly 'Lobar holoprosencephaly' SubClassOf 'Holoprosencephaly' 'Lobar holoprosencephaly' SubClassOf 'Holoprosencephaly' http://www.orpha.net/ORDO/Orphanet_352682 Cobblestone lissencephaly without muscular or ocular involvement 'Cobblestone lissencephaly without muscular or ocular involvement' SubClassOf 'Cobblestone lissencephaly' 'Cobblestone lissencephaly without muscular or ocular involvement' SubClassOf 'Cobblestone lissencephaly' http://www.orpha.net/ORDO/Orphanet_93930 Bladder exstrophy 'Bladder exstrophy' SubClassOf 'Exstrophy-epispadias complex' 'Bladder exstrophy' SubClassOf 'kidney disease' 'Bladder exstrophy' SubClassOf 'Exstrophy-epispadias complex' http://www.orpha.net/ORDO/Orphanet_93937 Terminal transverse defects of arm 'Terminal transverse defects of arm' SubClassOf 'Constriction rings syndrome' 'Terminal transverse defects of arm' SubClassOf 'Amniotic bands' http://www.orpha.net/ORDO/Orphanet_602 Distal myopathy, Nonaka type 'Distal myopathy, Nonaka type' SubClassOf 'Autosomal recessive distal myopathy' 'Distal myopathy, Nonaka type' SubClassOf 'congenital hematological disorder' 'Distal myopathy, Nonaka type' SubClassOf 'Disorder of multiple glycosylation' 'Distal myopathy, Nonaka type' SubClassOf 'syndromic constitutional thrombocytopenia' 'Distal myopathy, Nonaka type' SubClassOf 'Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -' 'Distal myopathy, Nonaka type' SubClassOf 'Inclusion myopathy' 'Distal myopathy, Nonaka type' SubClassOf 'inclusion body myositis' 'Distal myopathy, Nonaka type' SubClassOf 'congenital nervous system disorder' 'Distal myopathy, Nonaka type' SubClassOf 'Autosomal recessive distal myopathy' 'Distal myopathy, Nonaka type' SubClassOf 'Disorder of multiple glycosylation' 'Distal myopathy, Nonaka type' SubClassOf 'Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -' 'Distal myopathy, Nonaka type' SubClassOf 'Inclusion myopathy' http://www.orpha.net/ORDO/Orphanet_93945 X-linked intellectual disability, Porteous type 'X-linked intellectual disability, Porteous type' SubClassOf 'Renpenning syndrome' 'X-linked intellectual disability, Porteous type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_600 Distal myopathy with vocal cord weakness 'Distal myopathy with vocal cord weakness' SubClassOf 'Autosomal dominant distal myopathy' 'Distal myopathy with vocal cord weakness' SubClassOf 'Autosomal dominant distal myopathy' http://www.orpha.net/ORDO/Orphanet_93947 X-linked intellectual disability, Golabi-Ito-Hall type 'X-linked intellectual disability, Golabi-Ito-Hall type' SubClassOf 'Renpenning syndrome' 'X-linked intellectual disability, Golabi-Ito-Hall type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0010653 http://www.orpha.net/ORDO/Orphanet_93946 Hamel cerebro-palato-cardiac syndrome 'Hamel cerebro-palato-cardiac syndrome' SubClassOf 'Renpenning syndrome' 'Hamel cerebro-palato-cardiac syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0010653 http://purl.obolibrary.org/obo/MONDO_0007903 Li-Fraumeni syndrome 1 'Li-Fraumeni syndrome 1' SubClassOf 'Li-Fraumeni syndrome' 'Li-Fraumeni syndrome 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018875 http://www.orpha.net/ORDO/Orphanet_612 Potassium-aggravated myotonia 'Potassium-aggravated myotonia' SubClassOf 'muscular channelopathy' 'Potassium-aggravated myotonia' SubClassOf 'Myotonic syndrome' 'Potassium-aggravated myotonia' SubClassOf 'Myotonic syndrome' http://purl.obolibrary.org/obo/MONDO_0007902 lichen planus, familial 'lichen planus, familial' SubClassOf 'lichen planus' 'lichen planus, familial' SubClassOf 'lichen planus' http://www.orpha.net/ORDO/Orphanet_610 Bethlem myopathy 'Bethlem myopathy' SubClassOf 'Qualitative or quantitative defects of collagen 6' 'Bethlem myopathy' SubClassOf 'Congenital muscular dystrophy' 'Bethlem myopathy' SubClassOf 'contracture' 'Bethlem myopathy' SubClassOf 'Progressive muscular dystrophy' 'Bethlem myopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93952 X-linked intellectual disability, Hedera type 'X-linked intellectual disability, Hedera type' SubClassOf 'ATP6AP2-related disorder' 'X-linked intellectual disability, Hedera type' SubClassOf 'X-linked intellectual disability - epilepsy' 'X-linked intellectual disability, Hedera type' SubClassOf 'X-linked intellectual disability - epilepsy' http://www.orpha.net/ORDO/Orphanet_93951 X-linked dominant intellectual disability - epilepsy syndrome 'X-linked dominant intellectual disability - epilepsy syndrome' SubClassOf 'X-linked intellectual disability - epilepsy' 'X-linked dominant intellectual disability - epilepsy syndrome' SubClassOf 'X-linked intellectual disability - epilepsy' http://www.orpha.net/ORDO/Orphanet_93950 X-linked intellectual disability, Sutherland-Haan type 'X-linked intellectual disability, Sutherland-Haan type' SubClassOf 'Renpenning syndrome' 'X-linked intellectual disability, Sutherland-Haan type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93958 Oromandibular dystonia 'Oromandibular dystonia' SubClassOf 'focal dystonia' 'Oromandibular dystonia' SubClassOf 'Focal, segmental or multifocal dystonia' 'Oromandibular dystonia' SubClassOf 'Focal, segmental or multifocal dystonia' http://www.orpha.net/ORDO/Orphanet_609 Tibial muscular dystrophy 'Tibial muscular dystrophy' SubClassOf 'Autosomal dominant distal myopathy' 'Tibial muscular dystrophy' SubClassOf 'Qualitative or quantitative defects of titin' 'Tibial muscular dystrophy' SubClassOf 'Autosomal dominant distal myopathy' 'Tibial muscular dystrophy' SubClassOf 'Qualitative or quantitative defects of titin' http://www.orpha.net/ORDO/Orphanet_607 Nemaline myopathy 'Nemaline myopathy' SubClassOf 'Non-dystrophic myopathy' 'Nemaline myopathy' SubClassOf 'congenital structural myopathy' http://www.orpha.net/ORDO/Orphanet_606 Proximal myotonic myopathy 'Proximal myotonic myopathy' SubClassOf 'Eyelids malposition disorder' 'Proximal myotonic myopathy' SubClassOf 'Myotonic dystrophy' 'Proximal myotonic myopathy' SubClassOf 'Myotonic dystrophy' http://www.orpha.net/ORDO/Orphanet_603 Distal myopathy, Welander type 'Distal myopathy, Welander type' SubClassOf 'Autosomal dominant distal myopathy' 'Distal myopathy, Welander type' SubClassOf 'Autosomal dominant distal myopathy' http://www.orpha.net/ORDO/Orphanet_352709 CLN13 disease 'CLN13 disease' SubClassOf 'Adult neuronal ceroid lipofuscinosis' 'CLN13 disease' SubClassOf 'Adult neuronal ceroid lipofuscinosis' http://www.orpha.net/ORDO/Orphanet_352712 Facial dysmorphism - immunodeficiency - livedo - short stature 'Facial dysmorphism - immunodeficiency - livedo - short stature' SubClassOf 'genetic disorder' 'Facial dysmorphism - immunodeficiency - livedo - short stature' SubClassOf 'Other immunodeficiency syndrome due to defects in adaptive immunity' 'Facial dysmorphism - immunodeficiency - livedo - short stature' SubClassOf 'immunodeficiency disease' http://www.orpha.net/ORDO/Orphanet_352718 Progressive retinal dystrophy due to retinol transport defect 'Progressive retinal dystrophy due to retinol transport defect' SubClassOf 'Retinal dystrophy' 'Progressive retinal dystrophy due to retinol transport defect' SubClassOf 'Disorder of other vitamins and cofactors metabolism and transport' 'Progressive retinal dystrophy due to retinol transport defect' SubClassOf 'Retinal dystrophy' 'Progressive retinal dystrophy due to retinol transport defect' SubClassOf 'Disorder of other vitamins and cofactors metabolism and transport' http://www.orpha.net/ORDO/Orphanet_352723 Attenuated Chédiak-Higashi syndrome 'Attenuated Chédiak-Higashi syndrome' SubClassOf 'Genetic peripheral neuropathy' 'Attenuated Chédiak-Higashi syndrome' SubClassOf 'Genetic neurodegenerative disease' 'Attenuated Chédiak-Higashi syndrome' SubClassOf 'Genetic neurodegenerative disease' http://purl.obolibrary.org/obo/MONDO_0007728 acne inversa, familial, 1 'acne inversa, familial, 1' SubClassOf 'familial acne inversa' 'acne inversa, familial, 1' SubClassOf 'familial acne inversa' http://www.orpha.net/ORDO/Orphanet_352728 Disorder of melanin metabolism 'Disorder of melanin metabolism' SubClassOf 'Disorder of amino acid and other organic acid metabolism' 'Disorder of melanin metabolism' SubClassOf 'Disorder of amino acid and other organic acid metabolism' http://www.orpha.net/ORDO/Orphanet_352734 Minimal pigment oculocutaneous albinism type 1 'Minimal pigment oculocutaneous albinism type 1' SubClassOf 'Oculocutaneous albinism type 1' 'Minimal pigment oculocutaneous albinism type 1' SubClassOf 'Oculocutaneous albinism type 1' http://www.orpha.net/ORDO/Orphanet_352731 Oculocutaneous albinism type 1 'Oculocutaneous albinism type 1' SubClassOf 'Oculocutaneous albinism' 'Oculocutaneous albinism type 1' SubClassOf 'Oculocutaneous albinism' http://purl.obolibrary.org/obo/MONDO_0007733 holoprosencephaly 3 'holoprosencephaly 3' SubClassOf 'Holoprosencephaly' 'holoprosencephaly 3' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016296 http://www.orpha.net/ORDO/Orphanet_352737 Temperature-sensitive oculocutaneous albinism type 1 'Temperature-sensitive oculocutaneous albinism type 1' SubClassOf 'Oculocutaneous albinism type 1' 'Temperature-sensitive oculocutaneous albinism type 1' SubClassOf 'Oculocutaneous albinism type 1' http://www.orpha.net/ORDO/Orphanet_352745 Oculocutaneous albinism type 7 'Oculocutaneous albinism type 7' SubClassOf 'Oculocutaneous albinism' 'Oculocutaneous albinism type 7' SubClassOf 'Oculocutaneous albinism' http://www.orpha.net/ORDO/Orphanet_352740 Ocular albinism with congenital sensorineural deafness 'Ocular albinism with congenital sensorineural deafness' SubClassOf 'Developmental anomaly of metabolic origin' 'Ocular albinism with congenital sensorineural deafness' SubClassOf 'Waardenburg syndrome' 'Ocular albinism with congenital sensorineural deafness' SubClassOf 'Ocular albinism' 'Ocular albinism with congenital sensorineural deafness' SubClassOf 'Ocular albinism' http://www.orpha.net/ORDO/Orphanet_91131 DK1-CDG 'DK1-CDG' SubClassOf 'congenital disorder of glycosylation type I' 'DK1-CDG' SubClassOf 'Disorder of multiple glycosylation' 'DK1-CDG' SubClassOf 'Autosomal ichthyosis syndrome with other associated signs' 'DK1-CDG' SubClassOf 'Congenital disorder of glycosylation with skin involvement' 'DK1-CDG' SubClassOf 'Congenital disorder of glycosylation with dilated cardiomyopathy' 'DK1-CDG' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_91132 Ichthyosis-hypotrichosis syndrome 'Ichthyosis-hypotrichosis syndrome' SubClassOf 'genetic alopecia' 'Ichthyosis-hypotrichosis syndrome' SubClassOf 'Isolated hair shaft abnormality' 'Ichthyosis-hypotrichosis syndrome' SubClassOf 'Autosomal recessive congenital ichthyosis' http://www.orpha.net/ORDO/Orphanet_91130 Cardiomyopathy - hypotonia - lactic acidosis 'Cardiomyopathy - hypotonia - lactic acidosis' SubClassOf 'familial hypertrophic cardiomyopathy' 'Cardiomyopathy - hypotonia - lactic acidosis' SubClassOf 'autosomal recessive disease' 'Cardiomyopathy - hypotonia - lactic acidosis' SubClassOf 'Mitochondrial substrate carrier disorder' 'Cardiomyopathy - hypotonia - lactic acidosis' SubClassOf 'lactic acidosis' 'Cardiomyopathy - hypotonia - lactic acidosis' SubClassOf 'Mitochondrial substrate carrier disorder' http://purl.obolibrary.org/obo/MONDO_0007747 isolated hyperchlorhidrosis 'isolated hyperchlorhidrosis' SubClassOf 'Genetic epidermal appendage anomaly' 'isolated hyperchlorhidrosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021026 http://www.orpha.net/ORDO/Orphanet_91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency 'Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency' SubClassOf 'disease shares features of' some 'pseudoxanthoma elasticum (inherited or acquired)' 'Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency' SubClassOf 'Genetic dermis elastic tissue disorder' 'Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency' SubClassOf 'Genetic dermis elastic tissue disorder' http://www.orpha.net/ORDO/Orphanet_91133 Osteopenia - myopia - hearing loss - intellectual disability - facial dysmorphism 'Osteopenia - myopia - hearing loss - intellectual disability - facial dysmorphism' SubClassOf 'syndromic intellectual disability' 'Osteopenia - myopia - hearing loss - intellectual disability - facial dysmorphism' SubClassOf 'congenital nervous system disorder' 'Osteopenia - myopia - hearing loss - intellectual disability - facial dysmorphism' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Osteopenia - myopia - hearing loss - intellectual disability - facial dysmorphism' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0020705 neural tube defects, susceptibility to 'neural tube defects, susceptibility to' SubClassOf 'predisposes towards' some 'Neural tube defect' 'neural tube defects, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'Neural tube defect') 'neural tube defects, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some http://purl.obolibrary.org/obo/MONDO_0018075) 'neural tube defects, susceptibility to' SubClassOf 'predisposes towards' some http://purl.obolibrary.org/obo/MONDO_0018075 http://purl.obolibrary.org/obo/MONDO_0020704 inherited rippling muscle disease 'inherited rippling muscle disease' SubClassOf 'Qualitative or quantitative defects of caveolin-3' 'inherited rippling muscle disease' EquivalentTo 'Rippling muscle disease' and ('has modifier' some 'inherited') 'inherited rippling muscle disease' SubClassOf 'Non-dystrophic myopathy' 'inherited rippling muscle disease' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0011634 and ('has modifier' some 'inherited') 'inherited rippling muscle disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0011634 'inherited rippling muscle disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016146 http://purl.obolibrary.org/obo/MONDO_0020702 autosomal dominant epidermolytic ichthyosis 'autosomal dominant epidermolytic ichthyosis' SubClassOf 'Epidermolytic ichthyosis' 'autosomal dominant epidermolytic ichthyosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0007239 http://www.orpha.net/ORDO/Orphanet_469 Hereditary fructose intolerance 'Hereditary fructose intolerance' SubClassOf 'Disorder of fructose metabolism' 'Hereditary fructose intolerance' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Hereditary fructose intolerance' SubClassOf 'Disorder of carbohydrate absorption and transport' 'Hereditary fructose intolerance' SubClassOf 'Congenital intestinal transport defect' 'Hereditary fructose intolerance' SubClassOf 'Disorder of fructose metabolism' 'Hereditary fructose intolerance' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Hereditary fructose intolerance' SubClassOf 'Disorder of carbohydrate absorption and transport' 'Hereditary fructose intolerance' SubClassOf 'Congenital intestinal transport defect' http://www.orpha.net/ORDO/Orphanet_467 Non-acquired combined pituitary hormone deficiency 'Non-acquired combined pituitary hormone deficiency' SubClassOf 'Non-acquired pituitary hormone deficiency' 'Non-acquired combined pituitary hormone deficiency' SubClassOf 'Non-acquired pituitary hormone deficiency' http://www.orpha.net/ORDO/Orphanet_466 Fatal familial insomnia 'Fatal familial insomnia' SubClassOf 'inherited prion disease' 'Fatal familial insomnia' SubClassOf 'insomnia' 'Fatal familial insomnia' SubClassOf 'Genetic dementia' http://www.orpha.net/ORDO/Orphanet_465 Congenital plasminogen activator inhibitor type 1 deficiency 'Congenital plasminogen activator inhibitor type 1 deficiency' SubClassOf 'coagulation protein disease' 'Congenital plasminogen activator inhibitor type 1 deficiency' SubClassOf 'hemorrhagic disease' 'Congenital plasminogen activator inhibitor type 1 deficiency' SubClassOf 'congenital hematological disorder' http://www.orpha.net/ORDO/Orphanet_464 Incontinentia pigmenti 'Incontinentia pigmenti' SubClassOf 'Congenital vitreoretinal dysplasia' 'Incontinentia pigmenti' SubClassOf 'X-linked syndromic intellectual disability' 'Incontinentia pigmenti' SubClassOf 'pigmentation disease' 'Incontinentia pigmenti' SubClassOf 'Ectodermal dysplasia syndrome' 'Incontinentia pigmenti' SubClassOf 'Congenital vitreoretinal dysplasia' 'Incontinentia pigmenti' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 'Incontinentia pigmenti' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_461 Recessive X-linked ichthyosis 'Recessive X-linked ichthyosis' SubClassOf 'Inherited ichthyosis' 'Recessive X-linked ichthyosis' SubClassOf 'Inherited ichthyosis syndromic form' 'Recessive X-linked ichthyosis' SubClassOf 'Sterol metabolism disorder' 'Recessive X-linked ichthyosis' SubClassOf 'X-linked recessive disease' 'Recessive X-linked ichthyosis' SubClassOf 'Rare syndromic dyslipidemia' http://purl.obolibrary.org/obo/MONDO_0044705 paranasal sinus squamous cell carcinoma 'paranasal sinus squamous cell carcinoma' SubClassOf 'paranasal sinus carcinoma' 'paranasal sinus squamous cell carcinoma' SubClassOf 'paranasal sinus carcinoma' http://www.orpha.net/ORDO/Orphanet_478 Kallmann syndrome 'Kallmann syndrome' SubClassOf 'Isolated congenital hypogonadotropic hypogonadism' 'Kallmann syndrome' SubClassOf 'hypogonadotropic hypogonadism' 'Kallmann syndrome' SubClassOf 'syndromic disease' 'Kallmann syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_477 KID syndrome 'KID syndrome' SubClassOf 'Autosomal ichthyosis syndrome with other associated signs' 'KID syndrome' SubClassOf 'Syndromic genetic deafness' 'KID syndrome' SubClassOf 'Disease with diffuse palmoplantar keratoderma as a major feature' 'KID syndrome' SubClassOf 'Diffuse palmoplantar keratoderma' 'KID syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'KID syndrome' SubClassOf 'Syndromic ichthyosis associated with ocular features' 'KID syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_475 Joubert syndrome 'Joubert syndrome' SubClassOf 'syndromic disease' 'Joubert syndrome' SubClassOf 'malformation of the cerebellar vermis' 'Joubert syndrome' SubClassOf 'ciliopathy' 'Joubert syndrome' SubClassOf 'has_disease_location' some 'cilium' 'Joubert syndrome' SubClassOf 'Joubert syndrome and related disorders' 'Joubert syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_474 Jeune syndrome 'Jeune syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'Jeune syndrome' SubClassOf 'has_disease_location' some 'cilium' 'Jeune syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Jeune syndrome' SubClassOf 'Genetic renal tubular disease' 'Jeune syndrome' SubClassOf 'nephropathy-associated ciliopathy' 'Jeune syndrome' SubClassOf 'Short rib-polydactyly syndrome' 'Jeune syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0007763 nonpapillary renal cell carcinoma 'nonpapillary renal cell carcinoma' SubClassOf 'renal cell carcinoma' 'nonpapillary renal cell carcinoma' SubClassOf 'renal cell carcinoma' http://www.orpha.net/ORDO/Orphanet_470 Lysinuric protein intolerance 'Lysinuric protein intolerance' SubClassOf 'Disorder of amino acid absorption and transport' 'Lysinuric protein intolerance' SubClassOf 'inherited amino acid metabolic disorder' 'Lysinuric protein intolerance' SubClassOf 'Disorder of amino acid absorption and transport' http://www.orpha.net/ORDO/Orphanet_217467 Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency 'Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency' SubClassOf 'secondary avascular necrosis' 'Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency' SubClassOf 'inherited thrombophilia' 'Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency' SubClassOf 'Avascular necrosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0020723 vitamin D-dependent rickets, type 1A 'vitamin D-dependent rickets, type 1A' SubClassOf 'Hypocalcemic vitamin D-dependent rickets' 'vitamin D-dependent rickets, type 1A' SubClassOf http://purl.obolibrary.org/obo/MONDO_0009924 http://purl.obolibrary.org/obo/MONDO_0044714 mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome 'mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome' SubClassOf 'Mitochondrial myopathy' 'mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome' SubClassOf 'Unspecified mitochondrial disorder' 'mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0009637 'mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016803 http://purl.obolibrary.org/obo/MONDO_0020720 X-linked hypophosphatemic rickets 'X-linked hypophosphatemic rickets' SubClassOf 'Hypophosphatemic rickets' http://purl.obolibrary.org/obo/MONDO_0019740 acquired thrombotic thrombocytopenic purpura 'acquired thrombotic thrombocytopenic purpura' SubClassOf 'thrombotic thrombocytopenic purpura' 'acquired thrombotic thrombocytopenic purpura' SubClassOf 'congenital thrombotic thrombocytopenic purpura' 'acquired thrombotic thrombocytopenic purpura' SubClassOf 'thrombotic thrombocytopenic purpura' http://purl.obolibrary.org/obo/MONDO_0032737 spastic paraplegia 80, autosomal dominant 'spastic paraplegia 80, autosomal dominant' SubClassOf 'Hereditary spastic paraplegia' 'spastic paraplegia 80, autosomal dominant' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019064 http://www.orpha.net/ORDO/Orphanet_488 Urachal cyst 'Urachal cyst' SubClassOf 'congenital urachal anomaly' 'Urachal cyst' SubClassOf 'Genetic non-syndromic renal or urinary tract malformation' http://www.orpha.net/ORDO/Orphanet_487 Krabbe disease 'Krabbe disease' SubClassOf 'Neurometabolic disease' 'Krabbe disease' SubClassOf 'Sphingolipidosis' 'Krabbe disease' SubClassOf 'Unclassified primitive or secondary maculopathy' 'Krabbe disease' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' 'Krabbe disease' SubClassOf 'eye degenerative disorder' 'Krabbe disease' SubClassOf 'Leukodystrophy' 'Krabbe disease' SubClassOf 'Genetic peripheral neuropathy' 'Krabbe disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_486 Autosomal dominant severe congenital neutropenia 'Autosomal dominant severe congenital neutropenia' SubClassOf 'Severe congenital neutropenia' 'Autosomal dominant severe congenital neutropenia' SubClassOf 'autosomal dominant disease' 'Autosomal dominant severe congenital neutropenia' SubClassOf 'Severe congenital neutropenia' http://www.orpha.net/ORDO/Orphanet_485 Kniest dysplasia 'Kniest dysplasia' SubClassOf 'hereditary disorder of connective tissue' 'Kniest dysplasia' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Kniest dysplasia' SubClassOf 'Type 2 collagen-related bone disorder' 'Kniest dysplasia' SubClassOf 'type 2 collagenopathy' 'Kniest dysplasia' SubClassOf 'disease has feature' some 'collagenopathy' 'Kniest dysplasia' SubClassOf 'Pierre Robin syndrome associated with collagen disease' 'Kniest dysplasia' SubClassOf 'Spondylometaphyseal dysplasia' 'Kniest dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_183592 Genetic renal tubular disease 'Genetic renal tubular disease' SubClassOf 'renal tubule disease' 'Genetic renal tubular disease' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_483 Congenital high-molecular-weight kininogen deficiency 'Congenital high-molecular-weight kininogen deficiency' SubClassOf 'coagulation protein disease' 'Congenital high-molecular-weight kininogen deficiency' SubClassOf 'hemorrhagic disease' http://www.orpha.net/ORDO/Orphanet_481 Kennedy disease 'Kennedy disease' SubClassOf 'Bulbospinal muscular atrophy of adult' 'Kennedy disease' SubClassOf 'male infertility' 'Kennedy disease' SubClassOf 'Rare male infertility due to testicular endocrine disorder' 'Kennedy disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_480 Kearns-Sayre syndrome 'Kearns-Sayre syndrome' SubClassOf 'Mitochondrial disease with peripheral neuropathy' 'Kearns-Sayre syndrome' SubClassOf 'Syndromic retinitis pigmentosa' 'Kearns-Sayre syndrome' SubClassOf 'Mitochondrial disease with dilated cardiomyopathy' 'Kearns-Sayre syndrome' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA' 'Kearns-Sayre syndrome' SubClassOf 'Syndrome with hypoparathyroidism' 'Kearns-Sayre syndrome' SubClassOf 'Mitochondrial disease with eye involvement' 'Kearns-Sayre syndrome' SubClassOf 'Syndromic genetic deafness' 'Kearns-Sayre syndrome' SubClassOf 'Syndrome with a symptomatic strabismus' 'Kearns-Sayre syndrome' SubClassOf 'Neurometabolic disease' 'Kearns-Sayre syndrome' SubClassOf 'progressive external ophthalmoplegia' 'Kearns-Sayre syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0007771 hyperpigmentation with or without hypopigmentation, familial progressive 'hyperpigmentation with or without hypopigmentation, familial progressive' SubClassOf 'Familial progressive hyperpigmentation' 'hyperpigmentation with or without hypopigmentation, familial progressive' SubClassOf 'genetic skin disease' 'hyperpigmentation with or without hypopigmentation, familial progressive' SubClassOf http://purl.obolibrary.org/obo/MONDO_0013648 http://www.orpha.net/ORDO/Orphanet_183589 Genetic thrombotic microangiopathy 'Genetic thrombotic microangiopathy' SubClassOf 'kidney disease' 'Genetic thrombotic microangiopathy' SubClassOf 'blood coagulation disease' 'Genetic thrombotic microangiopathy' SubClassOf 'Rare genetic coagulation disorder' http://www.orpha.net/ORDO/Orphanet_325124 Testicular agenesis 'Testicular agenesis' SubClassOf '46,XY disorder of gonadal development' 'Testicular agenesis' SubClassOf 'male infertility' 'Testicular agenesis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017961 http://www.orpha.net/ORDO/Orphanet_398069 Prader-Willi syndrome due to point mutation 'Prader-Willi syndrome due to point mutation' SubClassOf 'Prader-Willi syndrome' 'Prader-Willi syndrome due to point mutation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0008300 http://purl.obolibrary.org/obo/MONDO_0020753 Orthocoronavirinae infectious disease 'Orthocoronavirinae infectious disease' SubClassOf 'Coronaviridae infectious disease' 'Orthocoronavirinae infectious disease' SubClassOf 'Coronaviridae infectious disease' http://purl.obolibrary.org/obo/MONDO_0019751 autoinflammatory syndrome 'autoinflammatory syndrome' SubClassOf 'syndromic disease' 'autoinflammatory syndrome' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_498 Keratosis pilaris atrophicans 'Keratosis pilaris atrophicans' SubClassOf 'keratosis pilaris' 'Keratosis pilaris atrophicans' SubClassOf 'genetic skin disease' 'Keratosis pilaris atrophicans' SubClassOf 'epidermal disease' http://purl.obolibrary.org/obo/MONDO_0007788 hypertriglyceridemia, familial 'hypertriglyceridemia, familial' SubClassOf 'Major hypertriglyceridemia' 'hypertriglyceridemia, familial' SubClassOf 'familial hyperlipidemia' 'hypertriglyceridemia, familial' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015902 http://www.orpha.net/ORDO/Orphanet_495 Transgrediens et progrediens palmoplantar keratoderma 'Transgrediens et progrediens palmoplantar keratoderma' SubClassOf 'Erythrokeratodermia variabilis' 'Transgrediens et progrediens palmoplantar keratoderma' SubClassOf 'Autosomal dominant isolated diffuse palmoplantar keratoderma' 'Transgrediens et progrediens palmoplantar keratoderma' SubClassOf 'Autosomal dominant isolated diffuse palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0020740 ectodermal dysplasia and immunodeficiency 1 'ectodermal dysplasia and immunodeficiency 1' SubClassOf 'Hypohidrotic ectodermal dysplasia with immunodeficiency' 'ectodermal dysplasia and immunodeficiency 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0010293 http://www.orpha.net/ORDO/Orphanet_494 Keratoderma hereditarium mutilans 'Keratoderma hereditarium mutilans' SubClassOf 'Syndromic genetic deafness' 'Keratoderma hereditarium mutilans' SubClassOf 'Autosomal dominant diffuse mutilating palmoplantar keratoderma' 'Keratoderma hereditarium mutilans' SubClassOf 'Syndromic genetic deafness' 'Keratoderma hereditarium mutilans' SubClassOf 'Autosomal dominant diffuse mutilating palmoplantar keratoderma' http://www.orpha.net/ORDO/Orphanet_493 Familial keratoacanthoma 'Familial keratoacanthoma' SubClassOf 'keratoacanthoma' 'Familial keratoacanthoma' SubClassOf 'disease has feature' some 'benign tumor of palpebral epidermis' 'Familial keratoacanthoma' EquivalentTo 'keratoacanthoma' and ('has modifier' some 'inherited') 'Familial keratoacanthoma' SubClassOf 'Genetic skin tumor' 'Familial keratoacanthoma' SubClassOf 'epithelial neoplasm' 'Familial keratoacanthoma' SubClassOf 'Genetic skin tumor' http://purl.obolibrary.org/obo/MONDO_0007781 essential hypertension, genetic 'essential hypertension, genetic' SubClassOf 'essential hypertension' 'essential hypertension, genetic' SubClassOf 'Genetic hypertension' 'essential hypertension, genetic' SubClassOf 'essential hypertension' 'essential hypertension, genetic' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015512 http://purl.obolibrary.org/obo/MONDO_0017104 central nervous system cystic malformation 'central nervous system cystic malformation' SubClassOf 'Genetic non-syndromic central nervous system malformation' 'central nervous system cystic malformation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015219 http://www.orpha.net/ORDO/Orphanet_398073 Prader-Willi-like syndrome 'Prader-Willi-like syndrome' SubClassOf 'Rare disorder with hypogonadotropic hypogonadism' 'Prader-Willi-like syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Prader-Willi-like syndrome' SubClassOf 'Congenital hypogonadotropic hypogonadism' 'Prader-Willi-like syndrome' SubClassOf 'Syndromic obesity' 'Prader-Willi-like syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' 'Prader-Willi-like syndrome' SubClassOf 'Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism' 'Prader-Willi-like syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_398079 Prader-Willi-like syndrome due to point mutation 'Prader-Willi-like syndrome due to point mutation' SubClassOf 'Prader-Willi-like syndrome' 'Prader-Willi-like syndrome due to point mutation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0008300 http://www.orpha.net/ORDO/Orphanet_325118 46,XY disorder of gonadal development '46,XY disorder of gonadal development' SubClassOf 'Genetic 46,XY disorder of sex development' '46,XY disorder of gonadal development' SubClassOf 'has modifier' some 'rare' '46,XY disorder of gonadal development' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0032755 neurodevelopmental disorder with or without variable brain abnormalities; NEDBA 'neurodevelopmental disorder with or without variable brain abnormalities; NEDBA' SubClassOf 'Rare genetic neurological disorder' 'neurodevelopmental disorder with or without variable brain abnormalities; NEDBA' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://purl.obolibrary.org/obo/MONDO_0007796 hypoparathyroidism, familial isolated 1 'hypoparathyroidism, familial isolated 1' SubClassOf 'Familial isolated hypoparathyroidism' 'hypoparathyroidism, familial isolated 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016390 http://purl.obolibrary.org/obo/MONDO_0044743 major salivary gland cancer 'major salivary gland cancer' SubClassOf 'salivary gland cancer' 'major salivary gland cancer' SubClassOf 'neoplasm of major salivary gland' 'major salivary gland cancer' SubClassOf 'salivary gland cancer' 'major salivary gland cancer' SubClassOf 'neoplasm of major salivary gland' http://purl.obolibrary.org/obo/MONDO_0020771 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 'spinocerebellar ataxia, autosomal recessive, with axonal neuropathy' SubClassOf 'Autosomal recessive cerebellar ataxia' 'spinocerebellar ataxia, autosomal recessive, with axonal neuropathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015244 http://www.orpha.net/ORDO/Orphanet_183573 Genetic overgrowth/obesity syndrome 'Genetic overgrowth/obesity syndrome' SubClassOf 'developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_183576 Genetic branchial arch or oral-acral syndrome 'Genetic branchial arch or oral-acral syndrome' SubClassOf 'developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0017114 global cerebellar malformation 'global cerebellar malformation' SubClassOf 'Genetic cerebellar malformation' 'global cerebellar malformation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015915 http://purl.obolibrary.org/obo/MONDO_0032751 arthrogryposis, distal, type 2B3 'arthrogryposis, distal, type 2B3' SubClassOf 'Sheldon-Hall syndrome' 'arthrogryposis, distal, type 2B3' SubClassOf http://purl.obolibrary.org/obo/MONDO_0011128 http://www.orpha.net/ORDO/Orphanet_183583 Genetic head and neck malformation 'Genetic head and neck malformation' SubClassOf 'disorder of development or morphogenesis' 'Genetic head and neck malformation' SubClassOf 'head and neck disorder' 'Genetic head and neck malformation' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0019781 astrocytoma (excluding glioblastoma) 'astrocytoma (excluding glioblastoma)' SubClassOf 'astrocytoma' 'astrocytoma (excluding glioblastoma)' SubClassOf 'astrocytoma' http://purl.obolibrary.org/obo/MONDO_0030118 silver-russell syndrome 4 'silver-russell syndrome 4' SubClassOf 'Silver-Russell syndrome' 'silver-russell syndrome 4' SubClassOf http://purl.obolibrary.org/obo/MONDO_0008394 http://purl.obolibrary.org/obo/MONDO_0020795 Silver-Russell syndrome 5 'Silver-Russell syndrome 5' SubClassOf 'Silver-Russell syndrome' 'Silver-Russell syndrome 5' SubClassOf http://purl.obolibrary.org/obo/MONDO_0008394 http://www.orpha.net/ORDO/Orphanet_183554 Genetic respiratory or mediastinal malformation 'Genetic respiratory or mediastinal malformation' SubClassOf 'developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_183545 Genetic digestive tract malformation 'Genetic digestive tract malformation' SubClassOf 'has modifier' some 'rare' 'Genetic digestive tract malformation' SubClassOf 'developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_183548 Genetic visceral malformation of the liver, biliary tract, pancreas or spleen 'Genetic visceral malformation of the liver, biliary tract, pancreas or spleen' SubClassOf 'developmental defect during embryogenesis' 'Genetic visceral malformation of the liver, biliary tract, pancreas or spleen' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0020798 hypoparathyroidism, familial isolated, 2 'hypoparathyroidism, familial isolated, 2' SubClassOf 'Familial isolated hypoparathyroidism' 'hypoparathyroidism, familial isolated, 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016390 http://purl.obolibrary.org/obo/MONDO_0044724 3-methylglutaconic aciduria type 9 '3-methylglutaconic aciduria type 9' SubClassOf 'Cerebral organic aciduria' '3-methylglutaconic aciduria type 9' SubClassOf 'Neurometabolic disease' '3-methylglutaconic aciduria type 9' SubClassOf '3-methylglutaconic aciduria' '3-methylglutaconic aciduria type 9' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019213 '3-methylglutaconic aciduria type 9' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019058 '3-methylglutaconic aciduria type 9' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017359 http://purl.obolibrary.org/obo/MONDO_0030105 galactosemia 4 'galactosemia 4' SubClassOf 'Galactosemia' 'galactosemia 4' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018116 http://purl.obolibrary.org/obo/MONDO_0044738 Gabriele de Vries syndrome 'Gabriele de Vries syndrome' SubClassOf 'Rare genetic neurological disorder' 'Gabriele de Vries syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Gabriele de Vries syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015159 http://www.orpha.net/ORDO/Orphanet_183557 Genetic developmental defect of the eye 'Genetic developmental defect of the eye' SubClassOf 'eye disease' 'Genetic developmental defect of the eye' SubClassOf 'developmental defect during embryogenesis' 'Genetic developmental defect of the eye' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_503 Autosomal dominant Larsen syndrome 'Autosomal dominant Larsen syndrome' SubClassOf 'autosomal dominant disease' 'Autosomal dominant Larsen syndrome' SubClassOf 'developmental defect during embryogenesis' 'Autosomal dominant Larsen syndrome' SubClassOf 'Orofacial clefting syndrome' 'Autosomal dominant Larsen syndrome' SubClassOf 'Filamin-related bone disorder' 'Autosomal dominant Larsen syndrome' SubClassOf 'Orofacial clefting syndrome' 'Autosomal dominant Larsen syndrome' SubClassOf 'Filamin-related bone disorder' http://www.orpha.net/ORDO/Orphanet_502 Langer-Giedion syndrome 'Langer-Giedion syndrome' DisjointWith 'Trichorhinophalangeal syndrome type 1 and 3' 'Langer-Giedion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 8' 'Langer-Giedion syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Langer-Giedion syndrome' SubClassOf 'syndromic intellectual disability' 'Langer-Giedion syndrome' SubClassOf 'Trichorhinophalangeal syndrome' 'Langer-Giedion syndrome' SubClassOf 'congenital nervous system disorder' 'Langer-Giedion syndrome' SubClassOf 'intellectual disability, autosomal dominant' 'Langer-Giedion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 8' 'Langer-Giedion syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Langer-Giedion syndrome' SubClassOf 'Trichorhinophalangeal syndrome' http://www.orpha.net/ORDO/Orphanet_501 Lafora disease 'Lafora disease' SubClassOf 'movement disorder' 'Lafora disease' SubClassOf 'Progressive epilepsy and/or ataxia with myoclonus as a major feature' 'Lafora disease' SubClassOf 'Progressive myoclonic epilepsy' 'Lafora disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_500 LEOPARD syndrome 'LEOPARD syndrome' SubClassOf 'Genetic hyperpigmentation of the skin' 'LEOPARD syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'LEOPARD syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'LEOPARD syndrome' SubClassOf 'Noonan syndrome and Noonan-related syndrome' 'LEOPARD syndrome' SubClassOf 'Palpebral lentiginosis' 'LEOPARD syndrome' SubClassOf 'Malformation syndrome with hamartosis' 'LEOPARD syndrome' SubClassOf 'Syndromic genetic deafness' 'LEOPARD syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0005178 osteoarthritis 'osteoarthritis' SubClassOf 'arthritis' 'osteoarthritis' SubClassOf 'arthritis' http://purl.obolibrary.org/obo/MONDO_0032795 intellectual developmental disorder 59 'intellectual developmental disorder 59' SubClassOf 'Autosomal dominant non-syndromic intellectual disability' 'intellectual developmental disorder 59' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015802 http://purl.obolibrary.org/obo/MONDO_0032790 neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities 'neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities' SubClassOf 'Rare genetic neurological disorder' 'neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.orpha.net/ORDO/Orphanet_512 Metachromatic leukodystrophy 'Metachromatic leukodystrophy' SubClassOf 'Genetic peripheral neuropathy' 'Metachromatic leukodystrophy' SubClassOf 'Leukodystrophy' 'Metachromatic leukodystrophy' SubClassOf 'Sphingolipidosis' 'Metachromatic leukodystrophy' SubClassOf 'Neurometabolic disease' 'Metachromatic leukodystrophy' SubClassOf 'Leukodystrophy' 'Metachromatic leukodystrophy' SubClassOf 'Sphingolipidosis' 'Metachromatic leukodystrophy' SubClassOf 'Neurometabolic disease' http://www.orpha.net/ORDO/Orphanet_511 Maple syrup urine disease 'Maple syrup urine disease' SubClassOf 'Disorder of branched-chain amino acid metabolism' 'Maple syrup urine disease' SubClassOf 'Disorder of branched-chain amino acid metabolism' http://www.orpha.net/ORDO/Orphanet_510 Lesch-Nyhan syndrome 'Lesch-Nyhan syndrome' SubClassOf 'Hypoxanthine-guanine phosphoribosyltransferase deficiency' 'Lesch-Nyhan syndrome' SubClassOf 'syndromic disease' 'Lesch-Nyhan syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0032787 holoprosencephaly 12 with or without pancreatic agenesis 'holoprosencephaly 12 with or without pancreatic agenesis' SubClassOf 'Holoprosencephaly' 'holoprosencephaly 12 with or without pancreatic agenesis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016296 http://purl.obolibrary.org/obo/MONDO_0029133 muscular dystrophy, limb-girdle, autosomal dominant 4 'muscular dystrophy, limb-girdle, autosomal dominant 4' SubClassOf 'Autosomal dominant limb-girdle muscular dystrophy' 'muscular dystrophy, limb-girdle, autosomal dominant 4' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015151 http://www.orpha.net/ORDO/Orphanet_183660 Severe combined immunodeficiency 'non-SCID combined immunodeficiency' DisjointWith 'Severe combined immunodeficiency' 'Severe combined immunodeficiency' SubClassOf 'Combined T and B cell immunodeficiency' 'Severe combined immunodeficiency' SubClassOf 'Combined T and B cell immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0029130 polydactyly, postaxial, type A8 'polydactyly, postaxial, type A8' SubClassOf 'Postaxial polydactyly type A' 'polydactyly, postaxial, type A8' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019673 http://purl.obolibrary.org/obo/MONDO_0029136 muscular dystrophy, limb-girdle, autosomal recessive 23 'muscular dystrophy, limb-girdle, autosomal recessive 23' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'muscular dystrophy, limb-girdle, autosomal recessive 23' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015152 http://purl.obolibrary.org/obo/MONDO_0029135 muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 'muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015152 http://www.orpha.net/ORDO/Orphanet_183663 Hyper-IgM syndrome with susceptibility to opportunistic infections 'Hyper-IgM syndrome with susceptibility to opportunistic infections' SubClassOf 'non-SCID combined immunodeficiency' 'Hyper-IgM syndrome with susceptibility to opportunistic infections' DisjointWith 'Hyper-IgM syndrome without susceptibility to opportunistic infections' 'Hyper-IgM syndrome with susceptibility to opportunistic infections' SubClassOf 'hyper-IgM syndrome' 'Hyper-IgM syndrome with susceptibility to opportunistic infections' SubClassOf 'Combined T and B cell immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0029134 severe combined immunodeficiency due to CARMIL2 deficiency 'severe combined immunodeficiency due to CARMIL2 deficiency' SubClassOf 'Lymphoproliferative syndrome' 'severe combined immunodeficiency due to CARMIL2 deficiency' SubClassOf 'Severe combined immunodeficiency' 'severe combined immunodeficiency due to CARMIL2 deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016537 'severe combined immunodeficiency due to CARMIL2 deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015974 http://www.orpha.net/ORDO/Orphanet_183654 Rare genetic coagulation disorder 'Rare genetic coagulation disorder' SubClassOf 'blood coagulation disease' 'Rare genetic coagulation disorder' SubClassOf 'genetic disorder' 'Rare genetic coagulation disorder' EquivalentTo 'blood coagulation disease' and ('has modifier' some 'inherited') http://www.orpha.net/ORDO/Orphanet_158687 Lethal acantholytic epidermolysis bullosa 'Lethal acantholytic epidermolysis bullosa' SubClassOf 'Suprabasal epidermolysis bullosa simplex' 'Lethal acantholytic epidermolysis bullosa' SubClassOf 'Suprabasal epidermolysis bullosa simplex' http://purl.obolibrary.org/obo/MONDO_0029140 glycosylphosphatidylinositol biosynthesis defect 18 'glycosylphosphatidylinositol biosynthesis defect 18' SubClassOf 'Congenital disorder of glycosylation' 'glycosylphosphatidylinositol biosynthesis defect 18' SubClassOf 'Disorder of lipid metabolism' 'glycosylphosphatidylinositol biosynthesis defect 18' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002525 'glycosylphosphatidylinositol biosynthesis defect 18' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015286 http://www.orpha.net/ORDO/Orphanet_158681 Epidermolysis bullosa simplex with circinate migratory erythema 'Epidermolysis bullosa simplex with circinate migratory erythema' SubClassOf 'Basal epidermolysis bullosa simplex' 'Epidermolysis bullosa simplex with circinate migratory erythema' SubClassOf 'Basal epidermolysis bullosa simplex' http://www.orpha.net/ORDO/Orphanet_171680 Lissencephaly due to TUBA1A mutation 'Lissencephaly due to TUBA1A mutation' SubClassOf 'Lissencephaly type 3' 'Lissencephaly due to TUBA1A mutation' SubClassOf 'Lissencephaly' http://www.orpha.net/ORDO/Orphanet_508 Leprechaunism 'Leprechaunism' SubClassOf 'Hypertrichosis' 'Leprechaunism' SubClassOf 'progeroid syndrome' 'Leprechaunism' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Leprechaunism' SubClassOf 'Genetic progeroid syndrome' 'Leprechaunism' SubClassOf 'syndromic disease' 'Leprechaunism' SubClassOf 'diabetes mellitus' 'Leprechaunism' SubClassOf 'autosomal recessive disease' 'Leprechaunism' SubClassOf 'Developmental anomaly of metabolic origin' 'Leprechaunism' SubClassOf 'Hypertrichosis' 'Leprechaunism' SubClassOf 'progeroid syndrome' 'Leprechaunism' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_506 Leigh syndrome 'Leigh syndrome' SubClassOf 'Syndrome with a symptomatic strabismus' 'Leigh syndrome' SubClassOf 'Mitochondrial disease with peripheral neuropathy' 'Leigh syndrome' SubClassOf 'Supranuclear oculomotor palsy' 'Leigh syndrome' SubClassOf 'Mitochondrial disease with eye involvement' 'Leigh syndrome' SubClassOf 'Neurometabolic disease' 'Leigh syndrome' SubClassOf 'Unclassified primitive or secondary maculopathy' 'Leigh syndrome' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' 'Leigh syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_158684 Epidermolysis bullosa simplex with pyloric atresia 'Epidermolysis bullosa simplex with pyloric atresia' SubClassOf 'Basal epidermolysis bullosa simplex' 'Epidermolysis bullosa simplex with pyloric atresia' SubClassOf 'Basal epidermolysis bullosa simplex' http://www.orpha.net/ORDO/Orphanet_505 Graham Little-Piccardi-Lassueur syndrome 'Graham Little-Piccardi-Lassueur syndrome' SubClassOf 'Alopecia' 'Graham Little-Piccardi-Lassueur syndrome' SubClassOf 'genetic alopecia' 'Graham Little-Piccardi-Lassueur syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_524 Li-Fraumeni syndrome 'Li-Fraumeni syndrome' SubClassOf 'Rare genetic neurological disorder' 'Li-Fraumeni syndrome' SubClassOf 'autosomal dominant disease' 'Li-Fraumeni syndrome' SubClassOf 'inherited nervous system cancer-predisposing syndrome' 'Li-Fraumeni syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' 'Li-Fraumeni syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_523 Hereditary leiomyomatosis and renal cell cancer 'Hereditary leiomyomatosis and renal cell cancer' SubClassOf 'Inherited renal cancer-predisposing syndrome' 'Hereditary leiomyomatosis and renal cell cancer' SubClassOf 'Genetic skin tumor' 'Hereditary leiomyomatosis and renal cell cancer' SubClassOf 'leiomyoma cutis' 'Hereditary leiomyomatosis and renal cell cancer' SubClassOf 'leiomyomatosis' 'Hereditary leiomyomatosis and renal cell cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017127 'Hereditary leiomyomatosis and renal cell cancer' SubClassOf 'Genetic skin tumor' http://www.orpha.net/ORDO/Orphanet_183622 Genetic respiratory malformation 'Genetic respiratory malformation' SubClassOf 'respiratory or thoracic malformation' http://www.orpha.net/ORDO/Orphanet_183625 Rare genetic diabetes mellitus 'Rare genetic diabetes mellitus' SubClassOf 'Inborn errors of metabolism' 'Rare genetic diabetes mellitus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019052 http://www.orpha.net/ORDO/Orphanet_534 Oculocerebrorenal syndrome 'Oculocerebrorenal syndrome' SubClassOf 'eye disease' 'Oculocerebrorenal syndrome' SubClassOf 'Disorder of amino acid absorption and transport' 'Oculocerebrorenal syndrome' SubClassOf 'syndromic disease' 'Oculocerebrorenal syndrome' SubClassOf 'Genetic renal tubular disease' 'Oculocerebrorenal syndrome' SubClassOf 'Disorder of amino acid absorption and transport' 'Oculocerebrorenal syndrome' SubClassOf 'Genetic renal tubular disease' http://www.orpha.net/ORDO/Orphanet_531 Miller-Dieker syndrome 'Miller-Dieker syndrome' SubClassOf 'chromosome 17p deletion' 'Miller-Dieker syndrome' SubClassOf 'Classic lissencephaly' 'Miller-Dieker syndrome' SubClassOf 'epilepsy' 'Miller-Dieker syndrome' SubClassOf 'Classic lissencephaly' http://www.orpha.net/ORDO/Orphanet_530 Lipoid proteinosis 'Lipoid proteinosis' SubClassOf 'genetic skin disease' 'Lipoid proteinosis' SubClassOf 'Disorder of lipid metabolism' 'Lipoid proteinosis' SubClassOf 'Genetic dermis disorder' 'Lipoid proteinosis' SubClassOf 'dermis disorder' 'Lipoid proteinosis' SubClassOf 'has modifier' some 'rare' 'Lipoid proteinosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019276 http://www.orpha.net/ORDO/Orphanet_529 Roch-Leri mesosomatous lipomatosis 'Roch-Leri mesosomatous lipomatosis' SubClassOf 'has modifier' some 'rare' 'Roch-Leri mesosomatous lipomatosis' SubClassOf 'Genetic subcutaneous tissue disorder' 'Roch-Leri mesosomatous lipomatosis' SubClassOf 'subcutaneous tissue disorder' 'Roch-Leri mesosomatous lipomatosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_528 Berardinelli-Seip congenital lipodystrophy 'Berardinelli-Seip congenital lipodystrophy' SubClassOf 'disorder of development or morphogenesis' 'Berardinelli-Seip congenital lipodystrophy' SubClassOf 'Rare insulin-resistance syndrome' 'Berardinelli-Seip congenital lipodystrophy' SubClassOf 'Genetic lipodystrophy' 'Berardinelli-Seip congenital lipodystrophy' SubClassOf 'Genetic progeroid syndrome' 'Berardinelli-Seip congenital lipodystrophy' SubClassOf 'has modifier' some 'congenital' 'Berardinelli-Seip congenital lipodystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_217407 Hereditary hypotrichosis with recurrent skin vesicles 'Hereditary hypotrichosis with recurrent skin vesicles' SubClassOf 'genetic alopecia' 'Hereditary hypotrichosis with recurrent skin vesicles' SubClassOf 'Alopecia' 'Hereditary hypotrichosis with recurrent skin vesicles' SubClassOf 'Alopecia' http://www.orpha.net/ORDO/Orphanet_526 Liddle syndrome 'Liddle syndrome' SubClassOf 'syndromic disease' 'Liddle syndrome' SubClassOf 'renal tubular transport disease' 'Liddle syndrome' SubClassOf 'Genetic hypertension' 'Liddle syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_171622 Autosomal recessive spastic paraplegia type 32 'Autosomal recessive spastic paraplegia type 32' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 32' SubClassOf 'Autosomal recessive complex spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_540 Familial hemophagocytic lymphohistiocytosis 'Familial hemophagocytic lymphohistiocytosis' SubClassOf 'Rare genetic neurological disorder' 'Familial hemophagocytic lymphohistiocytosis' SubClassOf 'Primary hemophagocytic lymphohistiocytosis' 'Familial hemophagocytic lymphohistiocytosis' SubClassOf 'brain inflammatory disease' 'Familial hemophagocytic lymphohistiocytosis' SubClassOf 'Primary hemophagocytic lymphohistiocytosis' http://www.orpha.net/ORDO/Orphanet_171629 Autosomal recessive spastic paraplegia type 35 'Autosomal recessive spastic paraplegia type 35' SubClassOf 'Pure or complex autosomal recessive spastic paraplegia' 'Autosomal recessive spastic paraplegia type 35' SubClassOf 'Pure or complex autosomal recessive spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_398166 Focal facial dermal dysplasia 'Focal facial dermal dysplasia' SubClassOf 'Ectodermal dysplasia syndrome' 'Focal facial dermal dysplasia' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_538 Lymphangioleiomyomatosis 'Lymphangioleiomyomatosis' SubClassOf 'PEComa' http://www.orpha.net/ORDO/Orphanet_558 Marfan syndrome 'Marfan syndrome' SubClassOf 'Rare disease with thoracic aortic aneurysm and aortic dissection' 'Marfan syndrome' SubClassOf 'Malformation syndrome with connective tissue involvement' 'Marfan syndrome' SubClassOf 'syndromic disease' 'Marfan syndrome' SubClassOf 'Marfan and Marfan-related disorder' 'Marfan syndrome' SubClassOf 'Lens position anomaly' 'Marfan syndrome' SubClassOf 'Syndromic myopia' 'Marfan syndrome' SubClassOf 'autosomal dominant disease' 'Marfan syndrome' SubClassOf 'Syndromic keratoconus' 'Marfan syndrome' SubClassOf 'Connective tissue disease with eye involvement' 'Marfan syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_557 Isolated anorectal malformation 'Isolated anorectal malformation' SubClassOf 'Anorectal malformation' 'Isolated anorectal malformation' EquivalentTo 'Anorectal malformation' and ('has modifier' some 'has an isolated presentation') 'Isolated anorectal malformation' SubClassOf 'has modifier' some 'has an isolated presentation' 'Isolated anorectal malformation' SubClassOf 'Anorectal malformation' http://www.orpha.net/ORDO/Orphanet_552 MODY 'MODY' SubClassOf 'diabetes mellitus' 'MODY' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_551 MERRF 'MERRF' SubClassOf 'Progressive myoclonic epilepsy' 'MERRF' SubClassOf 'Neurometabolic disease' 'MERRF' SubClassOf 'mitochondrial encephalomyopathy' 'MERRF' SubClassOf 'syndromic disease' 'MERRF' SubClassOf 'childhood electroclinical syndrome' 'MERRF' SubClassOf 'Early myoclonic encephalopathy' 'MERRF' SubClassOf 'Progressive myoclonic epilepsy' 'MERRF' SubClassOf 'Neurometabolic disease' 'MERRF' SubClassOf 'Mitochondrial myopathy' http://www.orpha.net/ORDO/Orphanet_550 MELAS 'MELAS' SubClassOf 'Neurometabolic disease' 'MELAS' SubClassOf 'mitochondrial encephalomyopathy' 'MELAS' SubClassOf 'Syndromic genetic deafness' 'MELAS' SubClassOf 'Mitochondrial myopathy' 'MELAS' SubClassOf 'Neurometabolic disease' 'MELAS' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_183616 Genetic neuro-ophthalmological disease 'Genetic neuro-ophthalmological disease' SubClassOf 'has modifier' some 'rare' 'Genetic neuro-ophthalmological disease' SubClassOf 'eye disease' http://www.orpha.net/ORDO/Orphanet_44890 Gastrointestinal stromal tumor 'Gastrointestinal stromal tumor' SubClassOf 'Genetic digestive tract tumor' 'Gastrointestinal stromal tumor' SubClassOf 'mesenchymal tumor of small intestine' 'Gastrointestinal stromal tumor' SubClassOf 'Genetic digestive tract tumor' http://www.orpha.net/ORDO/Orphanet_398173 Focal facial dermal dysplasia type II 'Focal facial dermal dysplasia type II' SubClassOf 'Focal facial dermal dysplasia type III' 'Focal facial dermal dysplasia type II' SubClassOf 'Focal facial dermal dysplasia' http://www.orpha.net/ORDO/Orphanet_569 Familial or sporadic hemiplegic migraine 'Familial or sporadic hemiplegic migraine' SubClassOf 'migraine with aura' 'Familial or sporadic hemiplegic migraine' SubClassOf 'disorder of central nervous system or retinal vasculature' http://www.orpha.net/ORDO/Orphanet_568 Microphthalmia, Lenz type 'Microphthalmia, Lenz type' SubClassOf 'Syndromic microphthalmia' 'Microphthalmia, Lenz type' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Microphthalmia, Lenz type' SubClassOf 'Isolated anophthalmia - microphthalmia' 'Microphthalmia, Lenz type' SubClassOf 'isolated microphthalmia' 'Microphthalmia, Lenz type' SubClassOf 'Lens shape anomaly' 'Microphthalmia, Lenz type' SubClassOf 'X-linked syndromic intellectual disability' 'Microphthalmia, Lenz type' SubClassOf 'Syndromic microphthalmia' 'Microphthalmia, Lenz type' SubClassOf 'Non-syndromic developmental defect of the eye' 'Microphthalmia, Lenz type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 'Microphthalmia, Lenz type' SubClassOf 'Lens shape anomaly' http://www.orpha.net/ORDO/Orphanet_567 22q11.2 deletion syndrome '22q11.2 deletion syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' '22q11.2 deletion syndrome' SubClassOf 'Rare syndrome with cardiac malformations' '22q11.2 deletion syndrome' SubClassOf 'Immunodeficiency due to absence of thymus' '22q11.2 deletion syndrome' SubClassOf 'heart disease' '22q11.2 deletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 22' '22q11.2 deletion syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' '22q11.2 deletion syndrome' SubClassOf 'Pierre Robin syndrome associated with a chromosomal anomaly' '22q11.2 deletion syndrome' SubClassOf 'Genetic branchial arch or oral-acral syndrome' '22q11.2 deletion syndrome' SubClassOf 'Syndromic genetic deafness' '22q11.2 deletion syndrome' SubClassOf 'Syndromic anorectal malformation' '22q11.2 deletion syndrome' SubClassOf 'Syndrome with hypoparathyroidism' '22q11.2 deletion syndrome' SubClassOf 'chromosome 22q deletion' '22q11.2 deletion syndrome' SubClassOf 'Syndromic urogenital tract malformation' '22q11.2 deletion syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' '22q11.2 deletion syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_566 Congenital microcoria 'Congenital microcoria' SubClassOf 'has modifier' some 'congenital' 'Congenital microcoria' SubClassOf 'Iridogoniodysgenesis' 'Congenital microcoria' SubClassOf 'Non-syndromic developmental defect of the eye' 'Congenital microcoria' SubClassOf 'Iridogoniodysgenesis' http://www.orpha.net/ORDO/Orphanet_565 Menkes disease 'Menkes disease' SubClassOf 'Syndromic hair shaft abnormality' 'Menkes disease' SubClassOf 'Disorder of copper metabolism' 'Menkes disease' SubClassOf 'Eyebrow/eyelashes structural anomaly' 'Menkes disease' SubClassOf 'Syndromic neurometabolic disease with X-linked intellectual disability' 'Menkes disease' SubClassOf 'inborn metal metabolism disorder' 'Menkes disease' SubClassOf 'Neurometabolic disease' 'Menkes disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_564 Meckel syndrome 'Meckel syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Meckel syndrome' SubClassOf 'Rare disease with glaucoma as a major feature' 'Meckel syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Meckel syndrome' SubClassOf 'Syndromic visceral malformation' 'Meckel syndrome' SubClassOf 'genetic lethal multiple congenital anomalies/dysmorphic syndrome' 'Meckel syndrome' SubClassOf 'Lens shape anomaly' 'Meckel syndrome' SubClassOf 'syndromic disease' 'Meckel syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Meckel syndrome' SubClassOf 'Familial cystic renal disease' 'Meckel syndrome' SubClassOf 'ciliopathy' 'Meckel syndrome' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'Meckel syndrome' SubClassOf 'Cerebral disease with cataract' 'Meckel syndrome' SubClassOf 'has_disease_location' some 'cilium' 'Meckel syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'Meckel syndrome' SubClassOf 'Orofacial clefting syndrome' 'Meckel syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_562 McCune-Albright syndrome 'McCune-Albright syndrome' SubClassOf 'Peripheral precocious puberty' 'McCune-Albright syndrome' SubClassOf 'Genetic hyperpigmentation of the skin' 'McCune-Albright syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'McCune-Albright syndrome' SubClassOf 'genetic disorder' 'McCune-Albright syndrome' SubClassOf 'disease has feature' some 'precocious puberty in female' 'McCune-Albright syndrome' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'McCune-Albright syndrome' SubClassOf 'disease has feature' some 'Genetic hyperpigmentation of the skin' 'McCune-Albright syndrome' SubClassOf 'disease has feature' some 'Peripheral precocious puberty' 'McCune-Albright syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_171607 X-linked spastic paraplegia type 34 'X-linked spastic paraplegia type 34' SubClassOf 'X-linked pure spastic paraplegia' 'X-linked spastic paraplegia type 34' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017912 http://www.orpha.net/ORDO/Orphanet_561 Marshall-Smith syndrome 'Marshall-Smith syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Marshall-Smith syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' 'Marshall-Smith syndrome' SubClassOf 'Overgrowth syndrome' 'Marshall-Smith syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_560 Marshall syndrome 'Marshall syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Marshall syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Marshall syndrome' SubClassOf 'Syndromic myopia' 'Marshall syndrome' SubClassOf 'Type 11 collagen-related bone disorder' 'Marshall syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Marshall syndrome' SubClassOf 'Rare disease with glaucoma as a major feature' 'Marshall syndrome' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Marshall syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_158676 Dystrophic epidermolysis bullosa, nails only 'Dystrophic epidermolysis bullosa, nails only' SubClassOf 'epidermolysis bullosa dystrophica' http://www.orpha.net/ORDO/Orphanet_217454 Rare hereditary thrombophilia 'Rare hereditary thrombophilia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021181 http://www.orpha.net/ORDO/Orphanet_158673 Acral dystrophic epidermolysis bullosa 'Acral dystrophic epidermolysis bullosa' SubClassOf 'epidermolysis bullosa dystrophica' http://www.orpha.net/ORDO/Orphanet_559 Marinesco-Sjögren syndrome 'Marinesco-Sjögren syndrome' SubClassOf 'Syndromic epicanthus' 'Marinesco-Sjögren syndrome' SubClassOf 'Autosomal recessive degenerative and progressive cerebellar ataxia' 'Marinesco-Sjögren syndrome' SubClassOf 'Syndromic epicanthus' 'Marinesco-Sjögren syndrome' SubClassOf 'Autosomal recessive degenerative and progressive cerebellar ataxia' http://www.orpha.net/ORDO/Orphanet_579 Mucopolysaccharidosis type 1 'Mucopolysaccharidosis type 1' SubClassOf 'Mucopolysaccharidosis' 'Mucopolysaccharidosis type 1' SubClassOf 'Neurometabolic disease' 'Mucopolysaccharidosis type 1' SubClassOf 'Mucopolysaccharidosis' 'Mucopolysaccharidosis type 1' SubClassOf 'Neurometabolic disease' http://www.orpha.net/ORDO/Orphanet_171612 Autosomal dominant spastic paraplegia type 37 'Autosomal dominant spastic paraplegia type 37' SubClassOf 'Autosomal dominant pure spastic paraplegia' 'Autosomal dominant spastic paraplegia type 37' SubClassOf 'Autosomal dominant pure spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_578 Mucolipidosis type IV 'Mucolipidosis type IV' SubClassOf 'has modifier' some 'rare' 'Mucolipidosis type IV' SubClassOf 'Mucolipidosis' 'Mucolipidosis type IV' SubClassOf 'Mucolipidosis' http://www.orpha.net/ORDO/Orphanet_577 Mucolipidosis type III 'Mucolipidosis type III' SubClassOf 'Mucolipidosis' 'Mucolipidosis type III' SubClassOf 'has modifier' some 'rare' 'Mucolipidosis type III' SubClassOf 'Mucolipidosis' http://www.orpha.net/ORDO/Orphanet_576 Mucolipidosis type II 'Mucolipidosis type II' SubClassOf 'Lysosomal storage disease with skeletal involvement' 'Mucolipidosis type II' SubClassOf 'Mucolipidosis' 'Mucolipidosis type II' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_575 Muckle-Wells syndrome 'Muckle-Wells syndrome' SubClassOf 'secondary glomerular disease' 'Muckle-Wells syndrome' SubClassOf 'autosomal dominant disease' 'Muckle-Wells syndrome' SubClassOf 'Cryopyrin-associated periodic syndrome' 'Muckle-Wells syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_574 Monosomy 21 'Monosomy 21' SubClassOf 'chromosome 21 disorder' 'Monosomy 21' SubClassOf 'Total autosomal monosomy' 'Monosomy 21' SubClassOf 'Total autosomal monosomy' http://www.orpha.net/ORDO/Orphanet_573 Monilethrix 'Monilethrix' SubClassOf 'Isolated hair shaft abnormality' 'Monilethrix' SubClassOf 'autosomal dominant disease' 'Monilethrix' SubClassOf 'Isolated hair shaft abnormality' http://www.orpha.net/ORDO/Orphanet_572 Immunodeficiency by defective expression of HLA class 2 'Immunodeficiency by defective expression of HLA class 2' SubClassOf 'non-SCID combined immunodeficiency' 'Immunodeficiency by defective expression of HLA class 2' SubClassOf 'Combined T and B cell immunodeficiency' http://www.orpha.net/ORDO/Orphanet_171617 Autosomal dominant spastic paraplegia type 38 'Autosomal dominant spastic paraplegia type 38' SubClassOf 'Autosomal dominant complex spastic paraplegia' 'Autosomal dominant spastic paraplegia type 38' SubClassOf 'Autosomal dominant complex spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_570 Moebius syndrome 'Moebius syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Moebius syndrome' SubClassOf 'Nuclear oculomotor paralysis' 'Moebius syndrome' SubClassOf 'facial nerve disease' 'Moebius syndrome' SubClassOf 'Paralytic facial malformation' 'Moebius syndrome' SubClassOf 'Cranial nerve and nuclear aplasia' 'Moebius syndrome' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Moebius syndrome' SubClassOf 'Nuclear oculomotor paralysis' 'Moebius syndrome' SubClassOf 'Paralytic facial malformation' 'Moebius syndrome' SubClassOf 'Cranial nerve and nuclear aplasia' 'Moebius syndrome' SubClassOf 'Genetic branchial arch or oral-acral syndrome' http://www.orpha.net/ORDO/Orphanet_158665 Basal epidermolysis bullosa simplex 'Basal epidermolysis bullosa simplex' SubClassOf 'Epidermolysis bullosa simplex' 'Basal epidermolysis bullosa simplex' SubClassOf 'Epidermolysis bullosa simplex' http://www.orpha.net/ORDO/Orphanet_158668 Epidermolysis bullosa simplex due to plakophilin deficiency 'Epidermolysis bullosa simplex due to plakophilin deficiency' SubClassOf 'Ectodermal dysplasia syndrome' 'Epidermolysis bullosa simplex due to plakophilin deficiency' SubClassOf 'Suprabasal epidermolysis bullosa simplex' 'Epidermolysis bullosa simplex due to plakophilin deficiency' SubClassOf 'Ectodermal dysplasia syndrome' 'Epidermolysis bullosa simplex due to plakophilin deficiency' SubClassOf 'Suprabasal epidermolysis bullosa simplex' http://purl.obolibrary.org/obo/MONDO_0056797 neurodevelopmental disorder with midbrain and hindbrain malformations 'neurodevelopmental disorder with midbrain and hindbrain malformations' SubClassOf 'Rare genetic neurological disorder' 'neurodevelopmental disorder with midbrain and hindbrain malformations' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.orpha.net/ORDO/Orphanet_158661 Suprabasal epidermolysis bullosa simplex 'Suprabasal epidermolysis bullosa simplex' SubClassOf 'Epidermolysis bullosa simplex' 'Suprabasal epidermolysis bullosa simplex' SubClassOf 'Epidermolysis bullosa simplex' http://www.orpha.net/ORDO/Orphanet_156005 Primary glaucoma 'Primary glaucoma' SubClassOf 'Hereditary glaucoma' 'Primary glaucoma' SubClassOf 'Hereditary glaucoma' http://www.orpha.net/ORDO/Orphanet_398156 Oculoauriculofrontonasal syndrome 'Oculoauriculofrontonasal syndrome' SubClassOf 'Frontonasal dysplasia' 'Oculoauriculofrontonasal syndrome' SubClassOf 'Frontonasal dysplasia' http://www.orpha.net/ORDO/Orphanet_54247 Posterior cortical atrophy 'Posterior cortical atrophy' SubClassOf 'Genetic neurodegenerative disease' 'Posterior cortical atrophy' SubClassOf 'Genetic dementia' 'Posterior cortical atrophy' SubClassOf 'mental or behavioural disorder' 'Posterior cortical atrophy' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_376724 Generalized isolated dystonia 'Generalized isolated dystonia' SubClassOf 'Isolated dystonia' 'Generalized isolated dystonia' EquivalentTo 'generalized dystonia' and 'Isolated dystonia' 'Generalized isolated dystonia' SubClassOf 'generalized dystonia' 'Generalized isolated dystonia' SubClassOf 'Isolated dystonia' http://www.orpha.net/ORDO/Orphanet_54260 Left ventricular noncompaction 'Left ventricular noncompaction' SubClassOf 'intrinsic cardiomyopathy' 'Left ventricular noncompaction' SubClassOf 'familial cardiomyopathy' 'Left ventricular noncompaction' SubClassOf 'congenital heart disease' 'Left ventricular noncompaction' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_276161 Multiple endocrine neoplasia 'Multiple endocrine neoplasia' SubClassOf 'genetic disorder' 'Multiple endocrine neoplasia' SubClassOf 'neurocristopathy' 'Multiple endocrine neoplasia' SubClassOf 'neoplastic syndrome' 'Multiple endocrine neoplasia' SubClassOf 'Multiple polyglandular tumor' 'Multiple endocrine neoplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015079 http://www.orpha.net/ORDO/Orphanet_325665 Genetic disorder of sex development of gynecological interest 'Genetic disorder of sex development of gynecological interest' SubClassOf 'Rare genetic gynecological and obstetrical diseases' 'Genetic disorder of sex development of gynecological interest' SubClassOf 'female reproductive system disease' http://www.orpha.net/ORDO/Orphanet_93218 Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis 'Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' SubClassOf 'Sporadic idiopathic steroid-resistant nephrotic syndrome' 'Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' SubClassOf 'Sporadic idiopathic steroid-resistant nephrotic syndrome' http://www.orpha.net/ORDO/Orphanet_93217 Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis 'Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis' SubClassOf 'Familial idiopathic steroid-resistant nephrotic syndrome' 'Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis' SubClassOf 'Familial idiopathic steroid-resistant nephrotic syndrome' http://www.orpha.net/ORDO/Orphanet_93216 Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes 'Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes' SubClassOf 'Familial idiopathic steroid-resistant nephrotic syndrome' 'Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes' SubClassOf 'Familial idiopathic steroid-resistant nephrotic syndrome' http://www.orpha.net/ORDO/Orphanet_93214 Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation 'Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation' SubClassOf 'Familial idiopathic steroid-resistant nephrotic syndrome' 'Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation' SubClassOf 'Familial idiopathic steroid-resistant nephrotic syndrome' http://www.orpha.net/ORDO/Orphanet_93213 Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis 'Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' SubClassOf 'Familial idiopathic steroid-resistant nephrotic syndrome' 'Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_276152 Multiple endocrine neoplasia type 4 'Multiple endocrine neoplasia type 4' SubClassOf 'Multiple endocrine neoplasia' 'Multiple endocrine neoplasia type 4' SubClassOf 'autosomal dominant disease' 'Multiple endocrine neoplasia type 4' SubClassOf 'Inherited cancer-predisposing syndrome' 'Multiple endocrine neoplasia type 4' SubClassOf 'Multiple endocrine neoplasia' http://www.orpha.net/ORDO/Orphanet_93220 Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis 'Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis' SubClassOf 'Sporadic idiopathic steroid-resistant nephrotic syndrome' 'Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis' SubClassOf 'Sporadic idiopathic steroid-resistant nephrotic syndrome' http://www.orpha.net/ORDO/Orphanet_71862 Retinal dystrophy 'Retinal dystrophy' EquivalentTo 'retinal degeneration' and ('has modifier' some 'inherited') 'Retinal dystrophy' SubClassOf 'retinal degeneration' 'Retinal dystrophy' SubClassOf 'Genetic vitreous-retinal disease' 'Retinal dystrophy' SubClassOf 'vision disorder' 'Retinal dystrophy' SubClassOf 'Genetic vitreous-retinal disease' http://www.orpha.net/ORDO/Orphanet_276193 Spinocerebellar ataxia type 35 'Spinocerebellar ataxia type 35' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 35' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' http://www.orpha.net/ORDO/Orphanet_276198 Spinocerebellar ataxia type 36 'Spinocerebellar ataxia type 36' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 36' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' http://www.orpha.net/ORDO/Orphanet_276183 Spinocerebellar ataxia type 32 'Spinocerebellar ataxia type 32' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 32' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' http://purl.obolibrary.org/obo/MONDO_0019601 autosomal recessive axonal hereditary motor and sensory neuropathy 'autosomal recessive axonal hereditary motor and sensory neuropathy' SubClassOf 'axonal hereditary motor and sensory neuropathy' 'autosomal recessive axonal hereditary motor and sensory neuropathy' SubClassOf 'axonal hereditary motor and sensory neuropathy' http://purl.obolibrary.org/obo/MONDO_0007631 chromosome 16p12.1 deletion syndrome, 520kb 'chromosome 16p12.1 deletion syndrome, 520kb' SubClassOf 'syndromic disease' 'chromosome 16p12.1 deletion syndrome, 520kb' SubClassOf 'Partial deletion of the short arm of chromosome 16' 'chromosome 16p12.1 deletion syndrome, 520kb' SubClassOf 'syndromic disease' 'chromosome 16p12.1 deletion syndrome, 520kb' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016894 http://www.ebi.ac.uk/efo/EFO_1001952 endometrial adenosquamous carcinoma 'endometrial adenosquamous carcinoma' SubClassOf 'Adenosquamous Carcinoma' 'endometrial adenosquamous carcinoma' SubClassOf 'Adenosquamous Carcinoma' http://www.ebi.ac.uk/efo/EFO_1001951 colorectal carcinoma 'colorectal carcinoma' SubClassOf 'colorectal cancer' 'colorectal carcinoma' SubClassOf 'colorectal cancer' http://www.ebi.ac.uk/efo/EFO_1001950 colon carcinoma 'colon carcinoma' SubClassOf 'malignant colon neoplasm' 'colon carcinoma' SubClassOf 'malignant colon neoplasm' http://www.ebi.ac.uk/efo/EFO_1001956 gallbladder carcinoma 'gallbladder carcinoma' SubClassOf 'gallbladder cancer' 'gallbladder carcinoma' SubClassOf 'gallbladder cancer' http://www.orpha.net/ORDO/Orphanet_93299 Achondrogenesis type 1A 'Achondrogenesis type 1A' SubClassOf 'Achondrogenesis' 'Achondrogenesis type 1A' SubClassOf 'Achondrogenesis' http://www.orpha.net/ORDO/Orphanet_93298 Achondrogenesis type 1B 'Achondrogenesis type 1B' SubClassOf 'Sulfation-related bone disorder' 'Achondrogenesis type 1B' SubClassOf 'Achondrogenesis' 'Achondrogenesis type 1B' SubClassOf 'Sulfation-related bone disorder' 'Achondrogenesis type 1B' SubClassOf 'Achondrogenesis' http://purl.obolibrary.org/obo/MONDO_0019611 TSH-secreting pituitary adenoma 'TSH-secreting pituitary adenoma' SubClassOf 'TSH producing pituitary tumor' 'TSH-secreting pituitary adenoma' SubClassOf 'TSH producing pituitary tumor' http://www.orpha.net/ORDO/Orphanet_93297 Hypochondrogenesis 'Hypochondrogenesis' SubClassOf 'Achondrogenesis' 'Hypochondrogenesis' SubClassOf 'hereditary disorder of connective tissue' 'Hypochondrogenesis' SubClassOf 'type 2 collagenopathy' 'Hypochondrogenesis' SubClassOf 'Achondrogenesis' http://www.orpha.net/ORDO/Orphanet_93296 Achondrogenesis type 2 'Achondrogenesis type 2' SubClassOf 'type 2 collagenopathy' 'Achondrogenesis type 2' SubClassOf 'Achondrogenesis' 'Achondrogenesis type 2' SubClassOf 'hereditary disorder of connective tissue' 'Achondrogenesis type 2' SubClassOf 'Achondrogenesis' http://www.orpha.net/ORDO/Orphanet_93293 Okihiro syndrome 'Okihiro syndrome' SubClassOf 'Dysostosis of genetic origin' 'Okihiro syndrome' SubClassOf 'Syndromic anorectal malformation' 'Okihiro syndrome' SubClassOf 'autosomal dominant disease' 'Okihiro syndrome' SubClassOf 'congenital limb malformation' 'Okihiro syndrome' SubClassOf 'Syndromic anorectal malformation' http://www.orpha.net/ORDO/Orphanet_254788 Maternally-inherited mitochondrial myopathy 'Maternally-inherited mitochondrial myopathy' SubClassOf 'Mitochondrial oxidative phosphorylation disorder' http://www.ebi.ac.uk/efo/EFO_1001963 ovarian mucinous cystadenocarcinoma 'ovarian mucinous cystadenocarcinoma' SubClassOf 'mucinous cystadenocarcinoma' 'ovarian mucinous cystadenocarcinoma' SubClassOf 'ovarian cystadenocarcinoma' 'ovarian mucinous cystadenocarcinoma' SubClassOf 'mucinous cystadenocarcinoma' 'ovarian mucinous cystadenocarcinoma' SubClassOf 'ovarian cystadenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1001962 ovarian cystadenocarcinoma 'ovarian cystadenocarcinoma' SubClassOf 'cystadenocarcinoma' 'ovarian cystadenocarcinoma' SubClassOf 'ovarian adenocarcinoma' 'ovarian cystadenocarcinoma' SubClassOf 'cystadenocarcinoma' 'ovarian cystadenocarcinoma' SubClassOf 'ovarian adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1001969 squamous cell breast carcinoma, acantholytic variant 'squamous cell breast carcinoma, acantholytic variant' SubClassOf 'squamous cell breast carcinoma' 'squamous cell breast carcinoma, acantholytic variant' SubClassOf 'squamous cell breast carcinoma' http://www.ebi.ac.uk/efo/EFO_1001968 soft tissue sarcoma 'soft tissue sarcoma' SubClassOf 'malignant soft tissue neoplasm' 'soft tissue sarcoma' SubClassOf 'malignant soft tissue neoplasm' http://www.ebi.ac.uk/efo/EFO_0003918 obstructive sleep apnea 'obstructive sleep apnea' SubClassOf 'syndromic disease' 'obstructive sleep apnea' SubClassOf 'sleep apnea' 'obstructive sleep apnea' SubClassOf 'syndromic disease' 'obstructive sleep apnea' SubClassOf 'sleep apnea' http://www.ebi.ac.uk/efo/EFO_1001967 salivary gland squamous cell carcinoma 'salivary gland squamous cell carcinoma' SubClassOf 'salivary gland carcinoma' 'salivary gland squamous cell carcinoma' SubClassOf 'salivary gland carcinoma' http://www.ebi.ac.uk/efo/EFO_1001974 uterine leiomyosarcoma 'uterine leiomyosarcoma' SubClassOf 'uterine sarcoma' 'uterine leiomyosarcoma' SubClassOf 'uterine sarcoma' http://www.ebi.ac.uk/efo/EFO_1001972 undifferentiated pleomorphic sarcoma 'undifferentiated pleomorphic sarcoma' SubClassOf 'soft tissue sarcoma' 'undifferentiated pleomorphic sarcoma' SubClassOf 'soft tissue sarcoma' http://www.ebi.ac.uk/efo/EFO_0003943 humerus fracture 'humerus fracture' SubClassOf 'limb disorder' http://www.ebi.ac.uk/efo/EFO_0003944 tibia fracture 'tibia fracture' SubClassOf 'limb disorder' http://www.orpha.net/ORDO/Orphanet_240112 Progressive supranuclear palsy - progressive non fluent aphasia 'Progressive supranuclear palsy - progressive non fluent aphasia' SubClassOf 'Atypical progressive supranuclear palsy' 'Progressive supranuclear palsy - progressive non fluent aphasia' SubClassOf 'Atypical progressive supranuclear palsy' http://www.ebi.ac.uk/efo/EFO_1001979 Adrenocorticotropic hormone deficiency 'Adrenocorticotropic hormone deficiency' SubClassOf 'Combined pituitary hormone deficiencies, genetic forms' 'Adrenocorticotropic hormone deficiency' SubClassOf 'Isolated congenital hypogonadotropic hypogonadism' 'Adrenocorticotropic hormone deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016553 'Adrenocorticotropic hormone deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0013099 http://www.ebi.ac.uk/efo/EFO_1001978 3MC syndrome 1 '3MC syndrome 1' SubClassOf 'Craniofacial-ulnar-renal syndrome' http://purl.obolibrary.org/obo/MONDO_0020634 grade III meningioma 'grade III meningioma' SubClassOf 'Meningioma' 'grade III meningioma' EquivalentTo 'Meningioma' and ('has modifier' some 'tumor grade 3, general grading system') 'grade III meningioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016642 'grade III meningioma' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0016642 and ('has modifier' some 'tumor grade 3, general grading system') http://www.ebi.ac.uk/efo/EFO_1001977 3MC syndrome 2 '3MC syndrome 2' SubClassOf 'Craniofacial-ulnar-renal syndrome' http://www.orpha.net/ORDO/Orphanet_254749 Tricarboxylic acid cycle disorder 'Tricarboxylic acid cycle disorder' SubClassOf 'Disorder of energy metabolism' 'Tricarboxylic acid cycle disorder' SubClassOf 'Disorder of energy metabolism' http://purl.obolibrary.org/obo/MONDO_0007664 glaucoma 1, open angle, A 'glaucoma 1, open angle, A' SubClassOf 'Juvenile glaucoma' 'glaucoma 1, open angle, A' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020367 http://www.ebi.ac.uk/efo/EFO_1001983 Autosomal recessive Charcot Marie Tooth disease type 2X 'Autosomal recessive Charcot Marie Tooth disease type 2X' SubClassOf 'autosomal recessive axonal hereditary motor and sensory neuropathy' 'Autosomal recessive Charcot Marie Tooth disease type 2X' SubClassOf 'autosomal recessive axonal hereditary motor and sensory neuropathy' http://www.ebi.ac.uk/efo/EFO_1001980 Alpha-methylacyl-CoA racemase deficiency 'Alpha-methylacyl-CoA racemase deficiency' SubClassOf 'Peroxisomal beta-oxidation disorder' 'Alpha-methylacyl-CoA racemase deficiency' SubClassOf 'Peroxisomal disease' 'Alpha-methylacyl-CoA racemase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019233 http://www.ebi.ac.uk/efo/EFO_1001988 Juvenile Polymyositis 'Juvenile Polymyositis' SubClassOf 'polymyositis' 'Juvenile Polymyositis' SubClassOf 'polymyositis' http://purl.obolibrary.org/obo/MONDO_0020629 microcephaly, growth restriction and increased sister chromatid exchange 'microcephaly, growth restriction and increased sister chromatid exchange' SubClassOf 'Primary immunodeficiency due to a defect in adaptive immunity' 'microcephaly, growth restriction and increased sister chromatid exchange' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015823 http://www.ebi.ac.uk/efo/EFO_1001995 Sclerodermatomyositis 'Sclerodermatomyositis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020127 'Sclerodermatomyositis' SubClassOf 'genetic skin disease' http://www.ebi.ac.uk/efo/EFO_1001994 Scleroderma Polymyositis Overlap Syndrome 'Scleroderma Polymyositis Overlap Syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020127 http://www.ebi.ac.uk/efo/EFO_1001992 Scapuloperoneal spinal muscular atrophy 'Scapuloperoneal spinal muscular atrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024257 http://www.ebi.ac.uk/efo/EFO_0003964 hip fracture 'hip fracture' SubClassOf 'limb disorder' http://www.orpha.net/ORDO/Orphanet_93259 Pfeiffer syndrome type 2 'Pfeiffer syndrome type 2' SubClassOf 'Pfeiffer syndrome' 'Pfeiffer syndrome type 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93258 Pfeiffer syndrome type 1 'Pfeiffer syndrome type 1' SubClassOf 'Pfeiffer syndrome' 'Pfeiffer syndrome type 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93256 Fragile X-associated tremor/ataxia syndrome 'Fragile X-associated tremor/ataxia syndrome' SubClassOf 'syndromic disease' 'Fragile X-associated tremor/ataxia syndrome' SubClassOf 'X-linked cerebellar ataxia' 'Fragile X-associated tremor/ataxia syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016612 http://purl.obolibrary.org/obo/MONDO_0020642 polycystic kidney disease 'polycystic kidney disease' SubClassOf 'Familial cystic renal disease' 'polycystic kidney disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019741 http://www.orpha.net/ORDO/Orphanet_325690 Genetic disorder of sex development 'Genetic disorder of sex development' SubClassOf 'developmental defect during embryogenesis' 'Genetic disorder of sex development' SubClassOf 'gonadal disorder' http://www.ebi.ac.uk/efo/EFO_0003950 ulna fracture 'ulna fracture' SubClassOf 'limb disorder' http://www.ebi.ac.uk/efo/EFO_0003955 bacterial sexually transmitted disease 'bacterial sexually transmitted disease' SubClassOf 'sexually transmitted disease' 'bacterial sexually transmitted disease' SubClassOf 'sexually transmitted disease' http://www.ebi.ac.uk/efo/EFO_0003956 seasonal allergic rhinitis 'seasonal allergic rhinitis' SubClassOf 'allergic rhinitis' 'seasonal allergic rhinitis' SubClassOf 'allergic rhinitis' http://www.orpha.net/ORDO/Orphanet_325697 Genetic 46,XX disorder of sex development 'Genetic 46,XX disorder of sex development' SubClassOf 'Genetic disorder of sex development' 'Genetic 46,XX disorder of sex development' SubClassOf 'Genetic disorder of sex development' http://purl.obolibrary.org/obo/MONDO_0044635 diaph1-related sensorineural hearing loss-thrombocytopenia syndrome 'diaph1-related sensorineural hearing loss-thrombocytopenia syndrome' SubClassOf 'Syndromic genetic deafness' 'diaph1-related sensorineural hearing loss-thrombocytopenia syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019589 http://purl.obolibrary.org/obo/MONDO_0020645 autosomal dominant osteopetrosis 'autosomal dominant osteopetrosis' SubClassOf 'Osteopetrosis' 'autosomal dominant osteopetrosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017198 http://www.orpha.net/ORDO/Orphanet_93262 Crouzon syndrome - acanthosis nigricans 'Crouzon syndrome - acanthosis nigricans' SubClassOf 'autosomal dominant disease' 'Crouzon syndrome - acanthosis nigricans' SubClassOf 'Syndromic craniosynostosis' 'Crouzon syndrome - acanthosis nigricans' SubClassOf 'focal segmental glomerulosclerosis' 'Crouzon syndrome - acanthosis nigricans' SubClassOf 'Syndromic craniosynostosis' http://www.orpha.net/ORDO/Orphanet_93260 Pfeiffer syndrome type 3 'Pfeiffer syndrome type 3' SubClassOf 'Pfeiffer syndrome' 'Pfeiffer syndrome type 3' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93269 Short rib-polydactyly syndrome, Majewski type 'Short rib-polydactyly syndrome, Majewski type' SubClassOf 'Short rib-polydactyly syndrome' 'Short rib-polydactyly syndrome, Majewski type' SubClassOf 'Short rib-polydactyly syndrome' http://www.orpha.net/ORDO/Orphanet_93268 Short rib-polydactyly syndrome, Beemer-Langer type 'Short rib-polydactyly syndrome, Beemer-Langer type' SubClassOf 'Jeune syndrome' 'Short rib-polydactyly syndrome, Beemer-Langer type' SubClassOf 'Short rib-polydactyly syndrome' http://www.orpha.net/ORDO/Orphanet_93267 Cloverleaf skull - multiple congenital anomalies 'Cloverleaf skull - multiple congenital anomalies' SubClassOf 'Syndromic craniosynostosis' 'Cloverleaf skull - multiple congenital anomalies' SubClassOf 'Syndromic craniosynostosis' http://www.orpha.net/ORDO/Orphanet_93277 Monostotic fibrous dysplasia 'Monostotic fibrous dysplasia' SubClassOf 'Fibrous dysplasia of bone' 'Monostotic fibrous dysplasia' SubClassOf 'fibrous dysplasia' 'Monostotic fibrous dysplasia' SubClassOf 'fibrous dysplasia' http://www.orpha.net/ORDO/Orphanet_93276 Polyostotic fibrous dysplasia 'Polyostotic fibrous dysplasia' SubClassOf 'fibrous dysplasia' 'Polyostotic fibrous dysplasia' SubClassOf 'Fibrous dysplasia of bone' 'Polyostotic fibrous dysplasia' SubClassOf 'fibrous dysplasia' http://purl.obolibrary.org/obo/MONDO_0017014 interstitial lung disease specific to childhood 'interstitial lung disease specific to childhood' SubClassOf 'interstitial lung disease' 'interstitial lung disease specific to childhood' SubClassOf 'interstitial lung disease' http://purl.obolibrary.org/obo/MONDO_0017015 primary interstitial lung disease specific to childhood 'primary interstitial lung disease specific to childhood' SubClassOf 'interstitial lung disease specific to childhood' 'primary interstitial lung disease specific to childhood' SubClassOf 'interstitial lung disease specific to childhood' http://www.orpha.net/ORDO/Orphanet_93274 Thanatophoric dysplasia type 2 'Thanatophoric dysplasia type 2' SubClassOf 'Thanatophoric dysplasia' 'Thanatophoric dysplasia type 2' SubClassOf 'Thanatophoric dysplasia' http://www.orpha.net/ORDO/Orphanet_93271 Short rib-polydactyly syndrome, Verma-Naumoff type 'Short rib-polydactyly syndrome, Verma-Naumoff type' SubClassOf 'Syndromic anorectal malformation' 'Short rib-polydactyly syndrome, Verma-Naumoff type' SubClassOf 'Short rib-polydactyly syndrome' 'Short rib-polydactyly syndrome, Verma-Naumoff type' SubClassOf 'Syndromic anorectal malformation' 'Short rib-polydactyly syndrome, Verma-Naumoff type' SubClassOf 'Short rib-polydactyly syndrome' http://www.orpha.net/ORDO/Orphanet_93270 Short rib-polydactyly syndrome, Saldino-Noonan type 'Short rib-polydactyly syndrome, Saldino-Noonan type' SubClassOf 'Short rib-polydactyly syndrome' 'Short rib-polydactyly syndrome, Saldino-Noonan type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93279 Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis 'Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis' SubClassOf 'type 2 collagenopathy' 'Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis' SubClassOf 'hereditary disorder of connective tissue' 'Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0005042 head disorder 'head disorder' SubClassOf 'head and neck disorder' 'head disorder' SubClassOf 'disease' http://purl.obolibrary.org/obo/MONDO_0017027 primary interstitial lung disease specific to adulthood 'primary interstitial lung disease specific to adulthood' SubClassOf 'interstitial lung disease specific to adulthood' 'primary interstitial lung disease specific to adulthood' SubClassOf 'interstitial lung disease specific to adulthood' http://purl.obolibrary.org/obo/MONDO_0017026 interstitial lung disease specific to adulthood 'interstitial lung disease specific to adulthood' SubClassOf 'interstitial lung disease' 'interstitial lung disease specific to adulthood' SubClassOf 'interstitial lung disease' http://www.orpha.net/ORDO/Orphanet_93284 Spondyloepiphyseal dysplasia tarda 'Spondyloepiphyseal dysplasia tarda' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepiphyseal dysplasia tarda' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_93283 Spondyloepiphyseal dysplasia, Kimberley type 'Spondyloepiphyseal dysplasia, Kimberley type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepiphyseal dysplasia, Kimberley type' SubClassOf 'Aggrecan-related bone disorder' 'Spondyloepiphyseal dysplasia, Kimberley type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepiphyseal dysplasia, Kimberley type' SubClassOf 'Aggrecan-related bone disorder' http://www.orpha.net/ORDO/Orphanet_93282 Spondyloepimetaphyseal dysplasia, Pakistani type 'Spondyloepimetaphyseal dysplasia, Pakistani type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepimetaphyseal dysplasia, Pakistani type' SubClassOf 'genetic disorder' 'Spondyloepimetaphyseal dysplasia, Pakistani type' SubClassOf 'Sulfation-related bone disorder' 'Spondyloepimetaphyseal dysplasia, Pakistani type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepimetaphyseal dysplasia, Pakistani type' SubClassOf 'Sulfation-related bone disorder' http://purl.obolibrary.org/obo/MONDO_0030019 anauxetic dysplasia 3 'anauxetic dysplasia 3' SubClassOf 'Anauxetic dysplasia' 'anauxetic dysplasia 3' SubClassOf http://purl.obolibrary.org/obo/MONDO_0011773 http://www.orpha.net/ORDO/Orphanet_861 Treacher-Collins syndrome 'Treacher-Collins syndrome' SubClassOf 'Dysostosis of genetic origin' 'Treacher-Collins syndrome' SubClassOf 'Eyelids malposition disorder' 'Treacher-Collins syndrome' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Treacher-Collins syndrome' SubClassOf 'congenital nervous system disorder' 'Treacher-Collins syndrome' SubClassOf 'Pierre Robin syndrome associated with branchial archs anomalies' 'Treacher-Collins syndrome' SubClassOf 'Syndromic palpebral coloboma' 'Treacher-Collins syndrome' SubClassOf 'Malposition of external canthus' 'Treacher-Collins syndrome' SubClassOf 'autosomal dominant disease' 'Treacher-Collins syndrome' SubClassOf 'Dysostosis with predominant craniofacial involvement' 'Treacher-Collins syndrome' SubClassOf 'Ptosis' 'Treacher-Collins syndrome' SubClassOf 'Syndrome with a symptomatic strabismus' 'Treacher-Collins syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Treacher-Collins syndrome' SubClassOf 'Mandibulofacial dysostosis' 'Treacher-Collins syndrome' SubClassOf 'Eyebrow/eyelashes distichiasis' 'Treacher-Collins syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Treacher-Collins syndrome' SubClassOf 'Syndromic genetic deafness' 'Treacher-Collins syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0032677 lissencephaly 9 with complex brainstem malformation 'lissencephaly 9 with complex brainstem malformation' SubClassOf 'Lissencephaly' 'lissencephaly 9 with complex brainstem malformation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018838 http://www.orpha.net/ORDO/Orphanet_860 Congenitally uncorrected transposition of the great arteries 'Congenitally uncorrected transposition of the great arteries' SubClassOf 'Genetic cardiac anomaly' 'Congenitally uncorrected transposition of the great arteries' SubClassOf 'congenital heart disease' 'Congenitally uncorrected transposition of the great arteries' SubClassOf 'transposition of the great arteries' 'Congenitally uncorrected transposition of the great arteries' SubClassOf 'Genetic cardiac anomaly' http://purl.obolibrary.org/obo/MONDO_0044660 menstrual cycle-dependent periodic fever 'menstrual cycle-dependent periodic fever' SubClassOf 'Anomaly of puberty or/and menstrual cycle of genetic origin' 'menstrual cycle-dependent periodic fever' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016072 http://www.orpha.net/ORDO/Orphanet_7 3C syndrome '3C syndrome' SubClassOf 'syndromic intellectual disability' '3C syndrome' SubClassOf 'central nervous system malformation' '3C syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' '3C syndrome' SubClassOf 'congenital nervous system disorder' '3C syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '3C syndrome' SubClassOf 'disease has feature' some 'Dandy-Walker syndrome' '3C syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_8 47,XYY syndrome '47,XYY syndrome' SubClassOf 'trisomy' '47,XYY syndrome' SubClassOf 'Y chromosome number anomaly' '47,XYY syndrome' SubClassOf 'chromosome Y disorder' '47,XYY syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'Genetic peripheral neuropathy' 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf '3-hydroxyacyl-CoA dehydrogenase deficiency' 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'familial hypertrophic cardiomyopathy' 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017715 http://www.orpha.net/ORDO/Orphanet_6 Isolated 3-methylcrotonyl-CoA carboxylase deficiency 'Isolated 3-methylcrotonyl-CoA carboxylase deficiency' SubClassOf 'Classic organic aciduria' 'Isolated 3-methylcrotonyl-CoA carboxylase deficiency' SubClassOf 'Classic organic aciduria' http://purl.obolibrary.org/obo/MONDO_0020698 inborn error of biotin metabolism 'inborn error of biotin metabolism' SubClassOf 'Organic aciduria' 'inborn error of biotin metabolism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000688 http://purl.obolibrary.org/obo/MONDO_0017034 secondary interstitial lung disease in childhood and adulthood 'secondary interstitial lung disease in childhood and adulthood' SubClassOf 'interstitial lung disease in childhood and adulthood' 'secondary interstitial lung disease in childhood and adulthood' SubClassOf 'interstitial lung disease in childhood and adulthood' http://purl.obolibrary.org/obo/MONDO_0017030 interstitial lung disease in childhood and adulthood 'interstitial lung disease in childhood and adulthood' SubClassOf 'interstitial lung disease' 'interstitial lung disease in childhood and adulthood' SubClassOf 'interstitial lung disease' http://www.orpha.net/ORDO/Orphanet_859 Transcobalamin deficiency 'Transcobalamin deficiency' SubClassOf 'inborn vitamin B12 deficiency' 'Transcobalamin deficiency' SubClassOf 'Primary immunodeficiency due to a defect in adaptive immunity' 'Transcobalamin deficiency' SubClassOf 'Disorder of cobalamin metabolism and transport' 'Transcobalamin deficiency' SubClassOf 'Disorder of cobalamin metabolism and transport' http://purl.obolibrary.org/obo/MONDO_0017031 primary interstitial lung disease in childhood and adulthood 'primary interstitial lung disease in childhood and adulthood' SubClassOf 'interstitial lung disease in childhood and adulthood' 'primary interstitial lung disease in childhood and adulthood' SubClassOf 'interstitial lung disease in childhood and adulthood' http://www.orpha.net/ORDO/Orphanet_857 Townes-Brocks syndrome 'Townes-Brocks syndrome' SubClassOf 'Syndromic anorectal malformation' 'Townes-Brocks syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Townes-Brocks syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'Townes-Brocks syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Townes-Brocks syndrome' SubClassOf 'autosomal dominant disease' 'Townes-Brocks syndrome' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Townes-Brocks syndrome' SubClassOf 'Syndromic genetic deafness' 'Townes-Brocks syndrome' SubClassOf 'congenital limb malformation' 'Townes-Brocks syndrome' SubClassOf 'congenital nervous system disorder' 'Townes-Brocks syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Townes-Brocks syndrome' SubClassOf 'Otomandibular dysplasia associated with monogenic syndromes' 'Townes-Brocks syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_229720 Syndromic agammaglobulinemia 'Syndromic agammaglobulinemia' EquivalentTo 'Agammaglobulinemia' and ('has modifier' some 'has a syndromic presentation') 'Syndromic agammaglobulinemia' SubClassOf 'Agammaglobulinemia' 'Syndromic agammaglobulinemia' SubClassOf 'syndromic disease' 'Syndromic agammaglobulinemia' SubClassOf 'Agammaglobulinemia' http://www.orpha.net/ORDO/Orphanet_871 Familial progressive cardiac conduction defect 'Familial progressive cardiac conduction defect' SubClassOf 'heart conduction disease' 'Familial progressive cardiac conduction defect' SubClassOf 'Genetic cardiac rhythm disease' 'Familial progressive cardiac conduction defect' SubClassOf 'Genetic cardiac rhythm disease' http://www.ebi.ac.uk/efo/EFO_0003877 sleep apnea 'sleep apnea' SubClassOf 'sleep-wake disorder' 'sleep apnea' SubClassOf 'sleep-wake disorder' http://www.orpha.net/ORDO/Orphanet_9 Tetrasomy X 'Tetrasomy X' SubClassOf 'Non-acquired premature ovarian failure' 'Tetrasomy X' SubClassOf 'Polysomy of X chromosome' 'Tetrasomy X' SubClassOf 'chromosome X disorder' 'Tetrasomy X' SubClassOf 'tetrasomy' 'Tetrasomy X' SubClassOf 'Non-acquired premature ovarian failure' 'Tetrasomy X' SubClassOf 'Polysomy of X chromosome' http://www.orpha.net/ORDO/Orphanet_869 Triple A syndrome 'Triple A syndrome' SubClassOf 'congenital nervous system disorder' 'Triple A syndrome' SubClassOf 'Congenital alacrima' 'Triple A syndrome' SubClassOf 'Genetic syndromic esophageal malformation' 'Triple A syndrome' SubClassOf 'Genetic chronic primary adrenal insufficiency' 'Triple A syndrome' SubClassOf 'autosomal recessive disease' 'Triple A syndrome' SubClassOf 'Genetic peripheral neuropathy' 'Triple A syndrome' SubClassOf 'Congenital alacrima' 'Triple A syndrome' SubClassOf 'Genetic syndromic esophageal malformation' 'Triple A syndrome' SubClassOf 'Genetic chronic primary adrenal insufficiency' http://www.orpha.net/ORDO/Orphanet_868 Triose phosphate-isomerase deficiency 'Triose phosphate-isomerase deficiency' SubClassOf 'Cerebral organic aciduria' 'Triose phosphate-isomerase deficiency' SubClassOf 'glucose metabolism disease' 'Triose phosphate-isomerase deficiency' SubClassOf 'Neurometabolic disease' 'Triose phosphate-isomerase deficiency' SubClassOf 'anemia due to erythrocyte enzyme disorder' 'Triose phosphate-isomerase deficiency' SubClassOf 'Disorder of glycolysis' 'Triose phosphate-isomerase deficiency' SubClassOf 'familial hemolytic anemia' 'Triose phosphate-isomerase deficiency' SubClassOf 'Neurometabolic disease' 'Triose phosphate-isomerase deficiency' SubClassOf 'Disorder of glycolysis' http://www.orpha.net/ORDO/Orphanet_867 Familial multiple trichoepithelioma 'Familial multiple trichoepithelioma' SubClassOf 'Brooke-Spiegler syndrome' 'Familial multiple trichoepithelioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0011512 http://www.orpha.net/ORDO/Orphanet_888 Van der Woude syndrome 'Van der Woude syndrome' SubClassOf 'syndromic disease' 'Van der Woude syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Van der Woude syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_887 VACTERL/VATER association 'VACTERL/VATER association' SubClassOf 'Genetic syndromic esophageal malformation' 'VACTERL/VATER association' SubClassOf 'Syndromic anorectal malformation' 'VACTERL/VATER association' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'VACTERL/VATER association' SubClassOf 'Syndromic urogenital tract malformation' 'VACTERL/VATER association' SubClassOf 'Syndromic renal or urinary tract malformation' 'VACTERL/VATER association' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'VACTERL/VATER association' SubClassOf 'Syndromic anorectal malformation' 'VACTERL/VATER association' SubClassOf 'Syndromic renal or urinary tract malformation' http://www.orpha.net/ORDO/Orphanet_886 Usher syndrome 'Usher syndrome' SubClassOf 'ciliopathy' 'Usher syndrome' SubClassOf 'autosomal recessive disease' 'Usher syndrome' SubClassOf 'has_disease_location' some 'cilium' 'Usher syndrome' SubClassOf 'Syndromic genetic deafness' 'Usher syndrome' SubClassOf 'Syndromic retinitis pigmentosa' 'Usher syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_884 Tetrasomy 12p 'Tetrasomy 12p' SubClassOf 'epilepsy' 'Tetrasomy 12p' SubClassOf 'syndromic diaphragmatic or thoracic malformation' 'Tetrasomy 12p' SubClassOf 'Rare genetic neurological disorder' 'Tetrasomy 12p' SubClassOf 'syndromic diaphragmatic or abdominal wall malformation' 'Tetrasomy 12p' SubClassOf 'Syndromic anorectal malformation' 'Tetrasomy 12p' SubClassOf 'Overgrowth syndrome' 'Tetrasomy 12p' SubClassOf 'Partial trisomy/tetrasomy of the short arm of chromosome 12' 'Tetrasomy 12p' SubClassOf 'Syndromic anorectal malformation' 'Tetrasomy 12p' SubClassOf 'Partial trisomy/tetrasomy of the short arm of chromosome 12' http://purl.obolibrary.org/obo/MONDO_0030037 neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures 'neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures' SubClassOf 'Disorder of lipid metabolism' 'neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures' SubClassOf 'Rare genetic neurological disorder' 'neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures' SubClassOf 'Congenital disorder of glycosylation' 'neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures' SubClassOf 'disorder of GPI anchor biosynthesis' 'neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002525 'neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures' SubClassOf 'disorder of GPI anchor biosynthesis' 'neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015286 'neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.orpha.net/ORDO/Orphanet_882 Tyrosinemia type 1 'Tyrosinemia type 1' SubClassOf 'Genetic peripheral neuropathy' 'Tyrosinemia type 1' SubClassOf 'tyrosinemia' 'Tyrosinemia type 1' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Tyrosinemia type 1' SubClassOf 'Disorder of tyrosine metabolism' 'Tyrosinemia type 1' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' http://www.orpha.net/ORDO/Orphanet_881 Turner syndrome 'Turner syndrome' SubClassOf 'X chromosome number anomaly' 'Turner syndrome' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' 'Turner syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Turner syndrome' SubClassOf 'Non-acquired premature ovarian failure' 'Turner syndrome' SubClassOf 'gonadal dysgenesis' 'Turner syndrome' SubClassOf 'Sex chromosome disorder of sex development' 'Turner syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'Turner syndrome' SubClassOf 'X chromosome number anomaly with female phenotype' 'Turner syndrome' SubClassOf 'female infertility' 'Turner syndrome' SubClassOf 'Female infertility due to gonadal dysgenesis' 'Turner syndrome' SubClassOf 'Syndromic epicanthus' 'Turner syndrome' SubClassOf 'chromosome X disorder' 'Turner syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Turner syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0030034 epilepsy, progressive myoclonic, 11 'epilepsy, progressive myoclonic, 11' SubClassOf 'Progressive myoclonic epilepsy' 'epilepsy, progressive myoclonic, 11' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020074 http://purl.obolibrary.org/obo/MONDO_0032697 neurodevelopmental disorder and language delay with or without structural brain abnormalities 'neurodevelopmental disorder and language delay with or without structural brain abnormalities' SubClassOf 'Rare genetic neurological disorder' 'neurodevelopmental disorder and language delay with or without structural brain abnormalities' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://purl.obolibrary.org/obo/MONDO_0032698 neurodevelopmental disorder with central and peripheral motor dysfunction 'neurodevelopmental disorder with central and peripheral motor dysfunction' SubClassOf 'Rare genetic neurological disorder' 'neurodevelopmental disorder with central and peripheral motor dysfunction' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://purl.obolibrary.org/obo/MONDO_0030031 lissencephaly 10 'lissencephaly 10' SubClassOf 'Lissencephaly' 'lissencephaly 10' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018838 http://www.orpha.net/ORDO/Orphanet_899 Walker-Warburg syndrome 'Walker-Warburg syndrome' SubClassOf 'Congenital vitreoretinal dysplasia' 'Walker-Warburg syndrome' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'Walker-Warburg syndrome' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'Walker-Warburg syndrome' SubClassOf 'Congenital disorder of glycosylation with developmental anomaly' 'Walker-Warburg syndrome' SubClassOf 'Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase' 'Walker-Warburg syndrome' SubClassOf 'Disorder of O-mannosylglycan synthesis' 'Walker-Warburg syndrome' SubClassOf 'Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies' 'Walker-Warburg syndrome' SubClassOf 'Qualitative or quantitative defects of fukutin' 'Walker-Warburg syndrome' SubClassOf 'Qualitative or quantitative defects of protein O-mannosyltransferase 1' 'Walker-Warburg syndrome' SubClassOf 'Qualitative or quantitative defects of FKRP' 'Walker-Warburg syndrome' SubClassOf 'Qualitative or quantitative defects of protein O-mannosyltransferase 2' 'Walker-Warburg syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_898 Wagner disease 'Wagner disease' SubClassOf 'Vitreoretinal degeneration' 'Wagner disease' SubClassOf 'Syndromic myopia' 'Wagner disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_897 Waardenburg-Shah syndrome 'Waardenburg-Shah syndrome' SubClassOf 'Syndromic intestinal malformation' 'Waardenburg-Shah syndrome' SubClassOf 'Pigmentation disorder with eye involvement, excluding albinism' 'Waardenburg-Shah syndrome' SubClassOf 'intestinal motility disease' 'Waardenburg-Shah syndrome' SubClassOf 'Congenital intestinal motility disorder' 'Waardenburg-Shah syndrome' SubClassOf 'neurocristopathy' 'Waardenburg-Shah syndrome' SubClassOf 'Waardenburg syndrome' 'Waardenburg-Shah syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_896 Waardenburg syndrome type 3 'Waardenburg syndrome type 3' SubClassOf 'Waardenburg syndrome' 'Waardenburg syndrome type 3' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_895 Waardenburg syndrome type 2 'Waardenburg syndrome type 2' SubClassOf 'Waardenburg syndrome' 'Waardenburg syndrome type 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_894 Waardenburg syndrome type 1 'Waardenburg syndrome type 1' SubClassOf 'Waardenburg syndrome' 'Waardenburg syndrome type 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_893 WAGR syndrome 'WAGR syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 11' 'WAGR syndrome' SubClassOf 'Inherited renal cancer-predisposing syndrome' 'WAGR syndrome' SubClassOf 'Genetic 46,XY disorder of sex development' 'WAGR syndrome' SubClassOf 'Syndromic aniridia' 'WAGR syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'WAGR syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'WAGR syndrome' SubClassOf 'Genetic non-syndromic obesity' 'WAGR syndrome' SubClassOf 'Syndromic obesity' 'WAGR syndrome' SubClassOf 'non-syndromic urogenital tract malformation' 'WAGR syndrome' SubClassOf 'Genetic renal tumor' 'WAGR syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_892 Von Hippel-Lindau disease 'Von Hippel-Lindau disease' SubClassOf 'Familial cystic renal disease' 'Von Hippel-Lindau disease' SubClassOf 'developmental defect during embryogenesis' 'Von Hippel-Lindau disease' SubClassOf 'Multiple polyglandular tumor' 'Von Hippel-Lindau disease' SubClassOf 'eye disease' 'Von Hippel-Lindau disease' SubClassOf 'inherited nervous system cancer-predisposing syndrome' 'Von Hippel-Lindau disease' SubClassOf 'Inherited renal cancer-predisposing syndrome' 'Von Hippel-Lindau disease' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'Von Hippel-Lindau disease' SubClassOf 'neurocutaneous syndrome' 'Von Hippel-Lindau disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015079 http://www.orpha.net/ORDO/Orphanet_891 Familial exudative vitreoretinopathy 'Familial exudative vitreoretinopathy' SubClassOf 'retinal vascular disorder' 'Familial exudative vitreoretinopathy' SubClassOf 'Vitreoretinal degeneration' 'Familial exudative vitreoretinopathy' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'Familial exudative vitreoretinopathy' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'Familial exudative vitreoretinopathy' SubClassOf 'Vitreoretinal degeneration' http://purl.obolibrary.org/obo/MONDO_0044655 c12orf65-related combined oxidative phosphorylation defect 'c12orf65-related combined oxidative phosphorylation defect' SubClassOf 'Mitochondrial oxidative phosphorylation disorder' 'c12orf65-related combined oxidative phosphorylation defect' SubClassOf 'Neurometabolic disease' 'c12orf65-related combined oxidative phosphorylation defect' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019058 'c12orf65-related combined oxidative phosphorylation defect' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016387 http://purl.obolibrary.org/obo/MONDO_0030025 neurodevelopmental disorder with hypotonia, microcephaly, and seizures 'neurodevelopmental disorder with hypotonia, microcephaly, and seizures' SubClassOf 'Rare genetic neurological disorder' 'neurodevelopmental disorder with hypotonia, microcephaly, and seizures' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://purl.obolibrary.org/obo/MONDO_0030024 neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities 'neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities' SubClassOf 'Rare genetic neurological disorder' 'neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.ebi.ac.uk/efo/EFO_1001918 specific phobia 'specific phobia' SubClassOf 'Rare genetic neurological disorder' 'specific phobia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.orpha.net/ORDO/Orphanet_254746 Pyruvate metabolism disorder 'Pyruvate metabolism disorder' SubClassOf 'Organic aciduria' 'Pyruvate metabolism disorder' SubClassOf 'Disorder of energy metabolism' 'Pyruvate metabolism disorder' SubClassOf 'Disorder of energy metabolism' http://www.ebi.ac.uk/efo/EFO_1001926 pathological gambling 'pathological gambling' SubClassOf 'Rare genetic neurological disorder' 'pathological gambling' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.orpha.net/ORDO/Orphanet_240103 Progressive supranuclear palsy - corticobasal syndrome 'Progressive supranuclear palsy - corticobasal syndrome' SubClassOf 'Atypical progressive supranuclear palsy' 'Progressive supranuclear palsy - corticobasal syndrome' SubClassOf 'Atypical progressive supranuclear palsy' http://purl.obolibrary.org/obo/MONDO_0017089 isolated megalencephaly 'isolated megalencephaly' SubClassOf 'Genetic non-syndromic central nervous system malformation' 'isolated megalencephaly' SubClassOf 'Rare genetic neurological disorder' 'isolated megalencephaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015219 'isolated megalencephaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://purl.obolibrary.org/obo/MONDO_0030044 pseudo-TORCH syndrome 3 'pseudo-TORCH syndrome 3' SubClassOf 'Congenital intrauterine infection-like syndrome' 'pseudo-TORCH syndrome 3' SubClassOf http://purl.obolibrary.org/obo/MONDO_0009626 http://purl.obolibrary.org/obo/MONDO_0030046 neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity 'neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity' SubClassOf 'Rare genetic neurological disorder' 'neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.ebi.ac.uk/efo/EFO_1001938 B-cell non-Hodgkins lymphoma 'B-cell non-Hodgkins lymphoma' SubClassOf 'non-Hodgkins lymphoma' 'B-cell non-Hodgkins lymphoma' SubClassOf 'non-Hodgkins lymphoma' http://www.ebi.ac.uk/efo/EFO_1001936 adult T acute lymphoblastic leukemia 'adult T acute lymphoblastic leukemia' SubClassOf 'adult acute lymphoblastic leukemia' 'adult T acute lymphoblastic leukemia' SubClassOf 'adult acute lymphoblastic leukemia' http://www.ebi.ac.uk/efo/EFO_1001935 adult B acute lymphoblastic leukemia 'adult B acute lymphoblastic leukemia' SubClassOf 'adult acute lymphoblastic leukemia' 'adult B acute lymphoblastic leukemia' SubClassOf 'adult acute lymphoblastic leukemia' http://www.ebi.ac.uk/efo/EFO_1001934 adult acute myeloid leukemia 'adult acute myeloid leukemia' SubClassOf 'Inherited acute myeloid leukemia' 'adult acute myeloid leukemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017893 http://www.ebi.ac.uk/efo/EFO_1001933 adult acute monocytic leukemia 'adult acute monocytic leukemia' SubClassOf 'acute monocytic leukemia' 'adult acute monocytic leukemia' SubClassOf 'acute monocytic leukemia' http://www.ebi.ac.uk/efo/EFO_1001931 oropharynx cancer 'oropharynx cancer' SubClassOf 'neoplasm of oropharynx' 'oropharynx cancer' SubClassOf 'pharynx cancer' 'oropharynx cancer' SubClassOf 'neoplasm of oropharynx' 'oropharynx cancer' SubClassOf 'pharynx cancer' http://www.ebi.ac.uk/efo/EFO_1001940 basaloid squamous cell carcinoma 'basaloid squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' 'basaloid squamous cell carcinoma' SubClassOf 'Basaloid Carcinoma' 'basaloid squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' 'basaloid squamous cell carcinoma' SubClassOf 'Basaloid Carcinoma' http://purl.obolibrary.org/obo/MONDO_0044699 SIN3A-related intellectual disability syndrome 'SIN3A-related intellectual disability syndrome' SubClassOf 'Rare genetic neurological disorder' 'SIN3A-related intellectual disability syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'SIN3A-related intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015159 'SIN3A-related intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 'SIN3A-related intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043005 http://www.ebi.ac.uk/efo/EFO_1001949 colon adenocarcinoma 'colon adenocarcinoma' SubClassOf 'colon carcinoma' 'colon adenocarcinoma' SubClassOf 'colon carcinoma' http://purl.obolibrary.org/obo/MONDO_0030061 periventricular nodular heterotopia 9 'periventricular nodular heterotopia 9' SubClassOf 'Periventricular nodular heterotopia' 'periventricular nodular heterotopia 9' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020341 http://www.ebi.ac.uk/efo/EFO_1001947 childhood T acute lymphoblastic leukemia 'childhood T acute lymphoblastic leukemia' SubClassOf 'childhood acute lymphoblastic leukemia' 'childhood T acute lymphoblastic leukemia' SubClassOf 'T-cell acute lymphoblastic leukemia' 'childhood T acute lymphoblastic leukemia' SubClassOf 'childhood acute lymphoblastic leukemia' 'childhood T acute lymphoblastic leukemia' SubClassOf 'T-cell acute lymphoblastic leukemia' http://purl.obolibrary.org/obo/MONDO_0030060 neurodevelopmental disorder with language impairment and behavioral abnormalities 'neurodevelopmental disorder with language impairment and behavioral abnormalities' SubClassOf 'Rare genetic neurological disorder' 'neurodevelopmental disorder with language impairment and behavioral abnormalities' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.ebi.ac.uk/efo/EFO_1001946 childhood B acute lymphoblastic leukemia 'childhood B acute lymphoblastic leukemia' SubClassOf 'precursor B-cell acute lymphoblastic leukemia' 'childhood B acute lymphoblastic leukemia' SubClassOf 'childhood acute lymphoblastic leukemia' 'childhood B acute lymphoblastic leukemia' SubClassOf 'precursor B-cell acute lymphoblastic leukemia' 'childhood B acute lymphoblastic leukemia' SubClassOf 'childhood acute lymphoblastic leukemia' http://www.ebi.ac.uk/efo/EFO_1001942 bronchogenic carcinoma 'bronchogenic carcinoma' SubClassOf 'lung carcinoma' 'bronchogenic carcinoma' SubClassOf 'lung carcinoma' http://purl.obolibrary.org/obo/MONDO_0030067 treacher collins syndrome 4 'treacher collins syndrome 4' SubClassOf 'Treacher-Collins syndrome' 'treacher collins syndrome 4' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002457 http://purl.obolibrary.org/obo/MONDO_0030066 granulomatous disease, chronic, autosomal recessive, 5 'granulomatous disease, chronic, autosomal recessive, 5' SubClassOf 'Chronic granulomatous disease' 'granulomatous disease, chronic, autosomal recessive, 5' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018305 http://purl.obolibrary.org/obo/MONDO_0030069 hyper-IgE recurrent infection syndrome 5, autosomal recessive 'hyper-IgE recurrent infection syndrome 5, autosomal recessive' SubClassOf 'Hyper-IgE syndrome' 'hyper-IgE recurrent infection syndrome 5, autosomal recessive' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018037 http://purl.obolibrary.org/obo/MONDO_0030063 neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities 'neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities' SubClassOf 'Rare genetic neurological disorder' 'neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://purl.obolibrary.org/obo/MONDO_0030062 arrhythmogenic right ventricular dysplasia, familial, 14 'arrhythmogenic right ventricular dysplasia, familial, 14' SubClassOf 'Familial isolated arrhythmogenic right ventricular dysplasia' 'arrhythmogenic right ventricular dysplasia, familial, 14' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016342 http://purl.obolibrary.org/obo/MONDO_0030064 episodic ataxia, type 9 'episodic ataxia, type 9' SubClassOf 'Hereditary episodic ataxia' 'episodic ataxia, type 9' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016227 http://www.orpha.net/ORDO/Orphanet_56304 Atelosteogenesis type II 'Atelosteogenesis type II' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Atelosteogenesis type II' SubClassOf 'congenital nervous system disorder' 'Atelosteogenesis type II' SubClassOf 'Sulfation-related bone disorder' 'Atelosteogenesis type II' SubClassOf 'syndromic intellectual disability' 'Atelosteogenesis type II' SubClassOf 'atelosteogenesis' 'Atelosteogenesis type II' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' 'Atelosteogenesis type II' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Atelosteogenesis type II' SubClassOf 'Sulfation-related bone disorder' 'Atelosteogenesis type II' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' http://www.orpha.net/ORDO/Orphanet_56305 Atelosteogenesis type III 'Atelosteogenesis type III' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Atelosteogenesis type III' SubClassOf 'Filamin-related bone disorder' 'Atelosteogenesis type III' SubClassOf 'congenital nervous system disorder' 'Atelosteogenesis type III' SubClassOf 'syndromic intellectual disability' 'Atelosteogenesis type III' SubClassOf 'atelosteogenesis' 'Atelosteogenesis type III' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Atelosteogenesis type III' SubClassOf 'Filamin-related bone disorder' http://www.orpha.net/ORDO/Orphanet_325706 Genetic 46,XY disorder of sex development 'Genetic 46,XY disorder of sex development' SubClassOf 'Genetic disorder of sex development' 'Genetic 46,XY disorder of sex development' SubClassOf 'Genetic disorder of sex development' http://www.orpha.net/ORDO/Orphanet_800 Schwartz-Jampel syndrome 'Schwartz-Jampel syndrome' SubClassOf 'autosomal recessive disease' 'Schwartz-Jampel syndrome' SubClassOf 'Syndromic myopia' 'Schwartz-Jampel syndrome' SubClassOf 'congenital nervous system disorder' 'Schwartz-Jampel syndrome' SubClassOf 'Congenital myotonia' 'Schwartz-Jampel syndrome' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Schwartz-Jampel syndrome' SubClassOf 'Progressive muscular dystrophy' 'Schwartz-Jampel syndrome' SubClassOf 'Perlecan-related bone disorder' 'Schwartz-Jampel syndrome' SubClassOf 'Qualitative or quantitative defects of perlecan' 'Schwartz-Jampel syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_171929 Trisomy 10p 'Trisomy 10p' SubClassOf 'Partial duplication of the short arm of chromosome 10' 'Trisomy 10p' SubClassOf 'Partial duplication of the short arm of chromosome 10' http://www.orpha.net/ORDO/Orphanet_811 Shwachman-Diamond syndrome 'Shwachman-Diamond syndrome' SubClassOf 'autosomal recessive disease' 'Shwachman-Diamond syndrome' SubClassOf 'has modifier' some 'rare' 'Shwachman-Diamond syndrome' SubClassOf 'congenital hematological disorder' 'Shwachman-Diamond syndrome' SubClassOf 'syndromic disease' 'Shwachman-Diamond syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Shwachman-Diamond syndrome' SubClassOf 'Rare constitutional medullar aplasia' 'Shwachman-Diamond syndrome' SubClassOf 'Genetic pancreatic disease' 'Shwachman-Diamond syndrome' SubClassOf 'Multiple metaphyseal dysplasia' 'Shwachman-Diamond syndrome' SubClassOf 'Functional neutrophil defect' 'Shwachman-Diamond syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_808 Seckel syndrome 'Seckel syndrome' SubClassOf 'autosomal recessive disease' 'Seckel syndrome' SubClassOf 'Microcephalic primordial dwarfism' 'Seckel syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_806 Scott syndrome 'Scott syndrome' SubClassOf 'Rare genetic coagulation disorder' 'Scott syndrome' SubClassOf 'inherited bleeding disorder, platelet-type' 'Scott syndrome' SubClassOf 'Rare hemorrhagic disorder due to a platelet receptor defect' 'Scott syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_805 Tuberous sclerosis 'Tuberous sclerosis' SubClassOf 'Genetic neurodegenerative disease' 'Tuberous sclerosis' SubClassOf 'disease has feature' some 'hamartoma' 'Tuberous sclerosis' SubClassOf 'Inherited cancer-predisposing syndrome' 'Tuberous sclerosis' SubClassOf 'neurocutaneous syndrome' 'Tuberous sclerosis' SubClassOf 'autosomal dominant disease' http://www.orpha.net/ORDO/Orphanet_822 Hereditary spherocytosis 'Hereditary spherocytosis' SubClassOf 'familial hemolytic anemia' http://www.orpha.net/ORDO/Orphanet_821 Sotos syndrome 'Sotos syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 5' 'Sotos syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Sotos syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Sotos syndrome' SubClassOf 'Cerebral disease with cataract' 'Sotos syndrome' SubClassOf 'autosomal recessive disease' 'Sotos syndrome' SubClassOf 'Overgrowth syndrome' 'Sotos syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' 'Sotos syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_819 Smith-Magenis syndrome 'Smith-Magenis syndrome' SubClassOf 'Syndromic obesity' 'Smith-Magenis syndrome' SubClassOf 'Syndrome associated with Pierre Robin syndrome' 'Smith-Magenis syndrome' SubClassOf 'congenital nervous system disorder' 'Smith-Magenis syndrome' SubClassOf 'chromosome 17p deletion' 'Smith-Magenis syndrome' SubClassOf 'Partial monosomy of the short arm of chromosome 17' 'Smith-Magenis syndrome' SubClassOf 'Rare disease with autism' 'Smith-Magenis syndrome' SubClassOf 'syndromic intellectual disability' 'Smith-Magenis syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Smith-Magenis syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Smith-Magenis syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_818 Smith-Lemli-Opitz syndrome 'Smith-Lemli-Opitz syndrome' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' 'Smith-Lemli-Opitz syndrome' SubClassOf 'Ptosis' 'Smith-Lemli-Opitz syndrome' SubClassOf 'Syndromic epicanthus' 'Smith-Lemli-Opitz syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Smith-Lemli-Opitz syndrome' SubClassOf 'Rare syndromic dyslipidemia' 'Smith-Lemli-Opitz syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Smith-Lemli-Opitz syndrome' SubClassOf '46,XY disorder of sex development due to cholesterol synthesis defect' 'Smith-Lemli-Opitz syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'Smith-Lemli-Opitz syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Smith-Lemli-Opitz syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Smith-Lemli-Opitz syndrome' SubClassOf 'Metabolic disease with cataract' 'Smith-Lemli-Opitz syndrome' SubClassOf 'cholesterol biosynthetic process disease' 'Smith-Lemli-Opitz syndrome' SubClassOf 'Syndrome associated with Pierre Robin syndrome' 'Smith-Lemli-Opitz syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'Smith-Lemli-Opitz syndrome' SubClassOf 'Eyelids malposition disorder' 'Smith-Lemli-Opitz syndrome' SubClassOf 'Craniofacial anomaly with cataract' 'Smith-Lemli-Opitz syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_817 Peeling skin syndrome 'Peeling skin syndrome' SubClassOf 'Inherited non-syndromic ichthyosis' 'Peeling skin syndrome' SubClassOf 'Inherited non-syndromic ichthyosis' http://www.orpha.net/ORDO/Orphanet_816 Sjögren-Larsson syndrome 'Sjögren-Larsson syndrome' SubClassOf 'Leukodystrophy' 'Sjögren-Larsson syndrome' SubClassOf 'Rare syndromic dyslipidemia' 'Sjögren-Larsson syndrome' SubClassOf 'eye degenerative disorder' 'Sjögren-Larsson syndrome' SubClassOf 'Syndromic ichthyosis associated with ocular features' 'Sjögren-Larsson syndrome' SubClassOf 'autosomal recessive disease' 'Sjögren-Larsson syndrome' SubClassOf 'Neurometabolic disease' 'Sjögren-Larsson syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017263 'Sjögren-Larsson syndrome' SubClassOf 'Neurometabolic disease' http://www.orpha.net/ORDO/Orphanet_813 Silver-Russell syndrome 'Silver-Russell syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Silver-Russell syndrome' SubClassOf 'Chromosomal anomaly' 'Silver-Russell syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' 'Silver-Russell syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'Silver-Russell syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Silver-Russell syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_812 sialidosis type I 'sialidosis type I' SubClassOf 'sialidosis' 'sialidosis type I' SubClassOf 'Neurometabolic disease' 'sialidosis type I' SubClassOf 'Neurometabolic disease' 'sialidosis type I' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017734 http://www.orpha.net/ORDO/Orphanet_833 Encephalopathy due to sulfite oxidase deficiency 'Encephalopathy due to sulfite oxidase deficiency' SubClassOf 'Developmental anomaly of metabolic origin' 'Encephalopathy due to sulfite oxidase deficiency' SubClassOf 'Cerebral organic aciduria' 'Encephalopathy due to sulfite oxidase deficiency' SubClassOf 'Neurometabolic disease' 'Encephalopathy due to sulfite oxidase deficiency' SubClassOf 'Disorder of methionine cycle and sulfur amino acid metabolism' 'Encephalopathy due to sulfite oxidase deficiency' SubClassOf 'Lens position anomaly' 'Encephalopathy due to sulfite oxidase deficiency' SubClassOf 'Developmental anomaly of metabolic origin' 'Encephalopathy due to sulfite oxidase deficiency' SubClassOf 'Neurometabolic disease' 'Encephalopathy due to sulfite oxidase deficiency' SubClassOf 'Disorder of methionine cycle and sulfur amino acid metabolism' 'Encephalopathy due to sulfite oxidase deficiency' SubClassOf 'Lens position anomaly' http://www.orpha.net/ORDO/Orphanet_832 Succinyl-CoA:3-ketoacid CoA transferase deficiency 'Succinyl-CoA:3-ketoacid CoA transferase deficiency' SubClassOf 'Disorder of ketone body metabolism' 'Succinyl-CoA:3-ketoacid CoA transferase deficiency' SubClassOf 'Disorder of ketone body metabolism' http://www.orpha.net/ORDO/Orphanet_68335 Chromosomal anomaly 'Chromosomal anomaly' SubClassOf 'has modifier' some 'rare' 'Chromosomal anomaly' SubClassOf 'developmental defect during embryogenesis' 'Chromosomal anomaly' SubClassOf 'genetic disorder' 'Chromosomal anomaly' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_828 Stickler syndrome 'Stickler syndrome' SubClassOf 'Vitreoretinal degeneration' 'Stickler syndrome' SubClassOf 'Syndromic myopia' 'Stickler syndrome' SubClassOf 'Rare disease with glaucoma as a major feature' 'Stickler syndrome' SubClassOf 'disease has feature' some 'collagenopathy' 'Stickler syndrome' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Stickler syndrome' SubClassOf 'Pierre Robin syndrome associated with collagen disease' 'Stickler syndrome' SubClassOf 'Musculoskeletal disease with cataract' 'Stickler syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Stickler syndrome' SubClassOf 'Syndromic genetic deafness' 'Stickler syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_827 Stargardt disease 'Stargardt disease' SubClassOf 'Familial flecked retinopathy' 'Stargardt disease' SubClassOf 'age-related macular degeneration' 'Stargardt disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_823 Isolated spina bifida 'Isolated spina bifida' SubClassOf 'spinal cord disease' 'Isolated spina bifida' SubClassOf 'congenital nervous system disorder' 'Isolated spina bifida' EquivalentTo 'spina bifida' and ('has modifier' some 'has an isolated presentation') http://www.orpha.net/ORDO/Orphanet_844 Atrial tachyarrhythmia with short PR interval 'Atrial tachyarrhythmia with short PR interval' SubClassOf 'Genetic cardiac rhythm disease' 'Atrial tachyarrhythmia with short PR interval' SubClassOf 'syndromic disease' 'Atrial tachyarrhythmia with short PR interval' SubClassOf 'Genetic cardiac rhythm disease' http://www.orpha.net/ORDO/Orphanet_229717 Isolated agammaglobulinemia 'Isolated agammaglobulinemia' SubClassOf 'has modifier' some 'has an isolated presentation' 'Isolated agammaglobulinemia' SubClassOf 'Agammaglobulinemia' 'Isolated agammaglobulinemia' EquivalentTo 'Agammaglobulinemia' and ('has modifier' some 'has an isolated presentation') 'Isolated agammaglobulinemia' SubClassOf 'Agammaglobulinemia' http://www.orpha.net/ORDO/Orphanet_839 Congenital nephrotic syndrome, Finnish type 'Congenital nephrotic syndrome, Finnish type' SubClassOf 'Primary glomerular disease' 'Congenital nephrotic syndrome, Finnish type' SubClassOf 'familial nephrotic syndrome' http://www.orpha.net/ORDO/Orphanet_834 Free sialic acid storage disease 'Free sialic acid storage disease' SubClassOf 'Disorder of lysosomal amino acid transport' 'Free sialic acid storage disease' SubClassOf 'Neurometabolic disease' 'Free sialic acid storage disease' SubClassOf 'Disorder of lysosomal amino acid transport' 'Free sialic acid storage disease' SubClassOf 'Neurometabolic disease' http://www.orpha.net/ORDO/Orphanet_852 X-linked thrombocytopenia with normal platelets 'X-linked thrombocytopenia with normal platelets' SubClassOf 'Hereditary thrombocytopenia with normal platelets' 'X-linked thrombocytopenia with normal platelets' SubClassOf 'Hereditary thrombocytopenia with normal platelets' http://www.orpha.net/ORDO/Orphanet_851 Paris-Trousseau thrombocytopenia 'Paris-Trousseau thrombocytopenia' SubClassOf 'Partial deletion of the long arm of chromosome 11' 'Paris-Trousseau thrombocytopenia' SubClassOf 'Alpha granule disease' 'Paris-Trousseau thrombocytopenia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_849 Glanzmann thrombasthenia 'Glanzmann thrombasthenia' SubClassOf 'Rare hemorrhagic disorder due to a constitutional thrombocytopenia' 'Glanzmann thrombasthenia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_848 Beta-thalassemia 'Beta-thalassemia' SubClassOf 'pituitary hormone deficiency secondary to storage disease' 'Beta-thalassemia' SubClassOf 'Thalassemia' 'Beta-thalassemia' SubClassOf 'kidney disease' 'Beta-thalassemia' SubClassOf 'Beta-thalassemia and related diseases' 'Beta-thalassemia' SubClassOf 'Beta-thalassemia and related diseases' http://www.orpha.net/ORDO/Orphanet_847 Alpha-thalassemia - X-linked intellectual disability syndrome 'Alpha-thalassemia - X-linked intellectual disability syndrome' SubClassOf 'Alpha-thalassemia-related diseases' 'Alpha-thalassemia - X-linked intellectual disability syndrome' SubClassOf 'congenital anemia' 'Alpha-thalassemia - X-linked intellectual disability syndrome' SubClassOf 'ATR-X-related syndrome' 'Alpha-thalassemia - X-linked intellectual disability syndrome' SubClassOf 'Alpha-thalassemia-related diseases' 'Alpha-thalassemia - X-linked intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016980 'Alpha-thalassemia - X-linked intellectual disability syndrome' SubClassOf 'congenital hematological disorder' http://www.orpha.net/ORDO/Orphanet_846 Alpha-thalassemia 'Alpha-thalassemia' SubClassOf 'Alpha-thalassemia and related diseases' 'Alpha-thalassemia' SubClassOf 'Thalassemia' 'Alpha-thalassemia' SubClassOf 'kidney disease' 'Alpha-thalassemia' SubClassOf 'Alpha-thalassemia and related diseases' http://www.orpha.net/ORDO/Orphanet_845 Tay-Sachs disease 'Tay-Sachs disease' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' 'Tay-Sachs disease' SubClassOf 'Genetic peripheral neuropathy' 'Tay-Sachs disease' SubClassOf 'GM2 gangliosidosis' 'Tay-Sachs disease' SubClassOf 'Metabolic disease with macular cherry-red spot' 'Tay-Sachs disease' SubClassOf 'cerebral lipidosis with dementia' 'Tay-Sachs disease' SubClassOf 'eye degenerative disorder' 'Tay-Sachs disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_313795 Jawad syndrome 'Jawad syndrome' SubClassOf 'Syndrome with microcephaly as major feature' 'Jawad syndrome' SubClassOf 'congenital nervous system disorder' 'Jawad syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Jawad syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2911 Poland syndrome 'Poland syndrome' SubClassOf 'syndromic breast hypoplasia/aplasia' 'Poland syndrome' SubClassOf 'congenital limb malformation' 'Poland syndrome' SubClassOf 'Syndrome with brachydactyly' 'Poland syndrome' SubClassOf 'syndromic disease' 'Poland syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2909 Rothmund-Thomson syndrome 'Rothmund-Thomson syndrome' SubClassOf 'telomere syndrome' 'Rothmund-Thomson syndrome' SubClassOf 'Ectodermal malformation syndrome associated with ocular features' 'Rothmund-Thomson syndrome' SubClassOf 'Genetic progeroid syndrome' 'Rothmund-Thomson syndrome' SubClassOf 'Dentocutaneous disease with cataract' 'Rothmund-Thomson syndrome' SubClassOf 'progeroid syndrome' 'Rothmund-Thomson syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' 'Rothmund-Thomson syndrome' SubClassOf 'Hereditary poikiloderma' 'Rothmund-Thomson syndrome' SubClassOf 'Genetic photodermatosis' 'Rothmund-Thomson syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2908 Kindler syndrome 'Kindler syndrome' SubClassOf 'Hereditary acrokeratotic poikiloderma of Kindler-Weary' 'Kindler syndrome' SubClassOf 'Inherited epidermolysis bullosa' 'Kindler syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2907 Hereditary acrokeratotic poikiloderma, Weary type 'Hereditary acrokeratotic poikiloderma, Weary type' SubClassOf 'Kindler syndrome' 'Hereditary acrokeratotic poikiloderma, Weary type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016382 http://www.orpha.net/ORDO/Orphanet_2903 Familial spontaneous pneumothorax 'Familial spontaneous pneumothorax' SubClassOf 'has modifier' some 'rare' 'Familial spontaneous pneumothorax' SubClassOf 'pneumothorax' http://www.orpha.net/ORDO/Orphanet_240094 Progressive supranuclear palsy - pure akinesia with gait freezing 'Progressive supranuclear palsy - pure akinesia with gait freezing' SubClassOf 'Atypical progressive supranuclear palsy' 'Progressive supranuclear palsy - pure akinesia with gait freezing' SubClassOf 'Atypical progressive supranuclear palsy' http://www.orpha.net/ORDO/Orphanet_2921 Preaxial polydactyly - colobomata - intellectual disability 'Preaxial polydactyly - colobomata - intellectual disability' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Preaxial polydactyly - colobomata - intellectual disability' SubClassOf 'syndromic intellectual disability' 'Preaxial polydactyly - colobomata - intellectual disability' SubClassOf 'congenital nervous system disorder' 'Preaxial polydactyly - colobomata - intellectual disability' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_2920 Oliver syndrome 'Oliver syndrome' SubClassOf 'syndromic intellectual disability' 'Oliver syndrome' SubClassOf 'congenital nervous system disorder' 'Oliver syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Oliver syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Oliver syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Oliver syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2919 Orofaciodigital syndrome type 5 'Orofaciodigital syndrome type 5' SubClassOf 'syndromic intellectual disability' 'Orofaciodigital syndrome type 5' SubClassOf 'Orofaciodigital syndrome' 'Orofaciodigital syndrome type 5' SubClassOf 'Orofaciodigital syndrome' http://www.orpha.net/ORDO/Orphanet_2917 Polydactyly-myopia syndrome 'Polydactyly-myopia syndrome' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_2916 Postaxial polydactyly - dental and vertebral anomalies 'Postaxial polydactyly - dental and vertebral anomalies' SubClassOf 'has modifier' some 'rare' 'Postaxial polydactyly - dental and vertebral anomalies' SubClassOf 'disorder of development or morphogenesis' http://www.orpha.net/ORDO/Orphanet_2913 Polydactyly 'Polydactyly' SubClassOf 'has modifier' some 'has an isolated presentation' 'syndromic disease' DisjointWith 'Polydactyly' 'Polydactyly' SubClassOf 'Non-syndromic polydactyly, syndactyly and/or hyperphalangy' 'Polydactyly' SubClassOf 'polydactyly' 'Polydactyly' EquivalentTo 'polydactyly' and ('has modifier' some 'has an isolated presentation') 'Polydactyly' SubClassOf 'Non-syndromic polydactyly, syndactyly and/or hyperphalangy' http://www.orpha.net/ORDO/Orphanet_93101 Renal hypoplasia 'Renal hypoplasia' SubClassOf 'Genetic non-syndromic renal or urinary tract malformation' 'Renal hypoplasia' SubClassOf 'Genetic non-syndromic renal or urinary tract malformation' http://www.orpha.net/ORDO/Orphanet_93100 Unilateral renal agenesis 'Unilateral renal agenesis' SubClassOf 'renal agenesis' 'Unilateral renal agenesis' SubClassOf 'Genetic non-syndromic renal or urinary tract malformation' http://www.orpha.net/ORDO/Orphanet_93108 Renal dysplasia 'Renal dysplasia' SubClassOf 'Genetic non-syndromic renal or urinary tract malformation' 'Renal dysplasia' SubClassOf 'Genetic non-syndromic renal or urinary tract malformation' http://www.orpha.net/ORDO/Orphanet_313772 Early-onset spastic ataxia-neuropathy syndrome 'Early-onset spastic ataxia-neuropathy syndrome' SubClassOf 'Autosomal recessive spastic ataxia' 'Early-onset spastic ataxia-neuropathy syndrome' SubClassOf 'Mitochondrial DNA depletion syndrome' 'Early-onset spastic ataxia-neuropathy syndrome' SubClassOf 'Autosomal recessive spastic ataxia' 'Early-onset spastic ataxia-neuropathy syndrome' SubClassOf 'Mitochondrial DNA depletion syndrome' http://www.orpha.net/ORDO/Orphanet_2934 Polysyndactyly - cardiac malformation 'Polysyndactyly - cardiac malformation' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Polysyndactyly - cardiac malformation' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_2930 Cronkhite-Canada syndrome 'Cronkhite-Canada syndrome' SubClassOf 'digestive system disease' 'Cronkhite-Canada syndrome' SubClassOf 'Genetic intestinal polyposis' 'Cronkhite-Canada syndrome' SubClassOf 'intestinal polyposis syndrome' 'Cronkhite-Canada syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Cronkhite-Canada syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2929 Juvenile polyposis syndrome 'Juvenile polyposis syndrome' SubClassOf 'Genetic intestinal polyposis' 'Juvenile polyposis syndrome' SubClassOf 'intestinal polyposis syndrome' 'Juvenile polyposis syndrome' SubClassOf 'Genetic intestinal polyposis' 'Juvenile polyposis syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' http://www.orpha.net/ORDO/Orphanet_2928 Polyneuropathy - intellectual disability - acromicria - premature menopause 'Polyneuropathy - intellectual disability - acromicria - premature menopause' SubClassOf 'syndromic intellectual disability' 'Polyneuropathy - intellectual disability - acromicria - premature menopause' SubClassOf 'has modifier' some 'rare' 'Polyneuropathy - intellectual disability - acromicria - premature menopause' SubClassOf 'disease has feature' some 'premature menopause' http://www.orpha.net/ORDO/Orphanet_2926 Polyneuropathy - hand defect 'Polyneuropathy - hand defect' SubClassOf 'Hereditary motor and sensory neuropathy' 'Polyneuropathy - hand defect' SubClassOf 'Hereditary sensory and autonomic neuropathy' 'Polyneuropathy - hand defect' SubClassOf 'Hereditary motor and sensory neuropathy' http://www.orpha.net/ORDO/Orphanet_2924 Isolated polycystic liver disease 'Isolated polycystic liver disease' SubClassOf 'has modifier' some 'has an isolated presentation' 'Isolated polycystic liver disease' SubClassOf 'autosomal dominant polycystic liver disease' 'Isolated polycystic liver disease' SubClassOf 'Genetic biliary tract disease' http://www.orpha.net/ORDO/Orphanet_240071 Classical progressive supranuclear palsy 'Classical progressive supranuclear palsy' SubClassOf 'Progressive supranuclear palsy' 'Classical progressive supranuclear palsy' SubClassOf 'Progressive supranuclear palsy' http://www.orpha.net/ORDO/Orphanet_93111 Renal cysts and diabetes syndrome 'Renal cysts and diabetes syndrome' SubClassOf 'MODY' 'Renal cysts and diabetes syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'Renal cysts and diabetes syndrome' SubClassOf 'Developmental anomaly of metabolic origin' 'Renal cysts and diabetes syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Renal cysts and diabetes syndrome' SubClassOf 'Rare genetic diabetes mellitus' 'Renal cysts and diabetes syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' http://www.orpha.net/ORDO/Orphanet_93110 Posterior urethral valve 'Posterior urethral valve' SubClassOf 'fetal lower urinary tract obstruction' http://www.orpha.net/ORDO/Orphanet_313781 20p13 microdeletion syndrome '20p13 microdeletion syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '20p13 microdeletion syndrome' SubClassOf 'Partial monosomy of the short arm of chromosome 20' '20p13 microdeletion syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93114 Autosomal dominant intermediate Charcot-Marie-Tooth disease type E 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type E' SubClassOf 'Primary glomerular disease' 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type E' SubClassOf 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type E' SubClassOf 'Primary glomerular disease' 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type E' SubClassOf 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' http://www.orpha.net/ORDO/Orphanet_2940 Porencephaly 'Porencephaly' SubClassOf 'COL4A1 or COL4A2-related cerebral small vessel disease' 'Porencephaly' SubClassOf 'Encephaloclastic disorder' 'Porencephaly' SubClassOf 'disease has feature' some 'structural epilepsy' 'Porencephaly' SubClassOf 'Encephaloclastic disorder' http://www.orpha.net/ORDO/Orphanet_2935 Crossed polysyndactyly 'Crossed polysyndactyly' SubClassOf 'congenital limb malformation' http://www.orpha.net/ORDO/Orphanet_240085 Progressive supranuclear palsy - parkinsonism 'Progressive supranuclear palsy - parkinsonism' SubClassOf 'Atypical progressive supranuclear palsy' 'Progressive supranuclear palsy - parkinsonism' SubClassOf 'Atypical progressive supranuclear palsy' http://www.orpha.net/ORDO/Orphanet_95700 Familial adrenal hypoplasia with absent pituitary luteinizing hormone 'Familial adrenal hypoplasia with absent pituitary luteinizing hormone' SubClassOf 'Congenital hypogonadotropic hypogonadism' 'Familial adrenal hypoplasia with absent pituitary luteinizing hormone' SubClassOf 'Genetic chronic primary adrenal insufficiency' 'Familial adrenal hypoplasia with absent pituitary luteinizing hormone' SubClassOf 'has modifier' some 'congenital' 'Familial adrenal hypoplasia with absent pituitary luteinizing hormone' SubClassOf 'Genetic chronic primary adrenal insufficiency' http://www.orpha.net/ORDO/Orphanet_95702 Cytomegalic congenital adrenal hypoplasia 'Cytomegalic congenital adrenal hypoplasia' SubClassOf 'X-linked disease' 'Cytomegalic congenital adrenal hypoplasia' SubClassOf 'Genetic chronic primary adrenal insufficiency' 'Cytomegalic congenital adrenal hypoplasia' SubClassOf 'Alternating hemiplegia of childhood' 'Cytomegalic congenital adrenal hypoplasia' SubClassOf 'Congenital hypogonadotropic hypogonadism' 'Cytomegalic congenital adrenal hypoplasia' SubClassOf 'congenital nervous system disorder' 'Cytomegalic congenital adrenal hypoplasia' SubClassOf 'Genetic chronic primary adrenal insufficiency' http://www.orpha.net/ORDO/Orphanet_95719 Thyroid hemiagenesis 'Thyroid hemiagenesis' SubClassOf 'Generalized resistance to thyroid hormone' 'Thyroid hemiagenesis' SubClassOf 'Syndromic hypothyroidism' http://www.orpha.net/ORDO/Orphanet_95710 Non-acquired premature ovarian failure 'Non-acquired premature ovarian failure' SubClassOf 'genetic endocrine growth disease' 'Non-acquired premature ovarian failure' EquivalentTo 'primary ovarian insufficiency' and ('has modifier' some 'inherited') 'Non-acquired premature ovarian failure' SubClassOf 'primary ovarian insufficiency' 'Non-acquired premature ovarian failure' SubClassOf 'Anomaly of puberty or/and menstrual cycle of genetic origin' 'Non-acquired premature ovarian failure' SubClassOf 'ovarian disease' 'Non-acquired premature ovarian failure' SubClassOf 'Anomaly of puberty or/and menstrual cycle of genetic origin' http://www.orpha.net/ORDO/Orphanet_95712 Thyroid ectopia 'Thyroid ectopia' SubClassOf 'Generalized resistance to thyroid hormone' 'Thyroid ectopia' SubClassOf 'Syndromic hypothyroidism' http://www.orpha.net/ORDO/Orphanet_95713 Athyreosis 'Athyreosis' SubClassOf 'Syndromic hypothyroidism' 'Athyreosis' SubClassOf 'Generalized resistance to thyroid hormone' http://www.orpha.net/ORDO/Orphanet_95716 Familial thyroid dyshormonogenesis 'Familial thyroid dyshormonogenesis' SubClassOf 'Inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_95720 Thyroid hypoplasia 'Thyroid hypoplasia' SubClassOf 'Generalized resistance to thyroid hormone' 'Thyroid hypoplasia' SubClassOf 'Syndromic hypothyroidism' http://www.orpha.net/ORDO/Orphanet_276066 Bile acid CoA ligase deficiency and defective amidation 'Bile acid CoA ligase deficiency and defective amidation' SubClassOf 'Disorder of bile acid synthesis' http://www.orpha.net/ORDO/Orphanet_2900 Leri pleonosteosis 'Leri pleonosteosis' SubClassOf 'congenital limb malformation' 'Leri pleonosteosis' SubClassOf 'Syndrome with synostosis or other joint formation defect' 'Leri pleonosteosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_325713 Genetic 46,XY disorder of sex development of endocrine origin 'Genetic 46,XY disorder of sex development of endocrine origin' SubClassOf 'Genetic 46,XY disorder of sex development' 'Genetic 46,XY disorder of sex development of endocrine origin' SubClassOf 'Genetic 46,XY disorder of sex development' http://purl.obolibrary.org/obo/MONDO_0007509 ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant 'ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant' SubClassOf 'Autosomal dominant hypohidrotic ectodermal dysplasia' 'ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015884 http://www.orpha.net/ORDO/Orphanet_93173 Bilateral renal dysplasia 'Bilateral renal dysplasia' SubClassOf 'Renal dysplasia' 'Bilateral renal dysplasia' SubClassOf 'Renal dysplasia' http://www.orpha.net/ORDO/Orphanet_93172 Unilateral renal dysplasia 'Unilateral renal dysplasia' SubClassOf 'Renal dysplasia' 'Unilateral renal dysplasia' SubClassOf 'Renal dysplasia' http://purl.obolibrary.org/obo/MONDO_0007533 elliptocytosis 2 'elliptocytosis 2' SubClassOf 'Hereditary elliptocytosis' 'elliptocytosis 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017319 http://www.ebi.ac.uk/efo/EFO_0003825 serous adenocarcinoma 'serous adenocarcinoma' SubClassOf 'adenocarcinoma' 'serous adenocarcinoma' SubClassOf 'adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0020511 precursor B-cell acute lymphoblastic leukemia 'precursor B-cell acute lymphoblastic leukemia' SubClassOf 'acute lymphoblastic leukemia' 'precursor B-cell acute lymphoblastic leukemia' SubClassOf 'acute lymphoblastic leukemia' http://www.ebi.ac.uk/efo/EFO_0003812 refractory anemia with ringed sideroblasts 'refractory anemia with ringed sideroblasts' SubClassOf 'Constitutional sideroblastic anemia' 'refractory anemia with ringed sideroblasts' SubClassOf 'sideroblastic anemia' 'refractory anemia with ringed sideroblasts' SubClassOf 'sideroblastic anemia' 'refractory anemia with ringed sideroblasts' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020099 http://www.ebi.ac.uk/efo/EFO_0003819 dental caries 'dental caries' SubClassOf 'head and neck disorder' http://www.ebi.ac.uk/efo/EFO_0003818 lung disease 'lung disease' SubClassOf 'thoracic disorder' http://purl.obolibrary.org/obo/MONDO_0020539 extragonadal non-dysgerminomatous germ cell tumor 'extragonadal non-dysgerminomatous germ cell tumor' SubClassOf 'nongerminomatous germ cell tumor' 'extragonadal non-dysgerminomatous germ cell tumor' SubClassOf 'nongerminomatous germ cell tumor' http://www.ebi.ac.uk/efo/EFO_0003832 gallbladder disease 'gallbladder disease' SubClassOf 'abdominal and pelvic region disorder' 'gallbladder disease' SubClassOf 'genetic disorder' 'gallbladder disease' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0019541 non-infectious posterior uveitis 'non-infectious posterior uveitis' SubClassOf 'choroiditis' 'non-infectious posterior uveitis' SubClassOf 'choroiditis' http://purl.obolibrary.org/obo/MONDO_0007572 primary familial polycythemia due to EPO receptor mutation 'primary familial polycythemia due to EPO receptor mutation' SubClassOf 'Genetic polycythemia' 'primary familial polycythemia due to EPO receptor mutation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001115 http://purl.obolibrary.org/obo/MONDO_0020550 gestational choriocarcinoma 'gestational choriocarcinoma' SubClassOf 'Gestational trophoblastic neoplasm' 'gestational choriocarcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018944 http://purl.obolibrary.org/obo/MONDO_0007573 acute erythroleukemia, familial 'acute erythroleukemia, familial' SubClassOf 'acute erythroleukemia' 'acute erythroleukemia, familial' SubClassOf 'acute erythroleukemia' http://purl.obolibrary.org/obo/MONDO_0007585 exostoses, multiple, type 1 'exostoses, multiple, type 1' SubClassOf 'Multiple osteochondromas' 'exostoses, multiple, type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0005508 http://purl.obolibrary.org/obo/MONDO_0007586 exostoses, multiple, type 2 'exostoses, multiple, type 2' SubClassOf 'Multiple osteochondromas' 'exostoses, multiple, type 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0005508 http://www.ebi.ac.uk/efo/EFO_0003857 arthrogryposis 'arthrogryposis' SubClassOf 'Rare genetic neurological disorder' 'arthrogryposis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.orpha.net/ORDO/Orphanet_93160 Hypocalcemic vitamin D-resistant rickets 'Hypocalcemic vitamin D-resistant rickets' SubClassOf 'Hypocalcemic rickets' 'Hypocalcemic vitamin D-resistant rickets' SubClassOf 'vitamin D-dependent rickets' 'Hypocalcemic vitamin D-resistant rickets' SubClassOf 'Hypocalcemic rickets' http://www.orpha.net/ORDO/Orphanet_745 Hereditary thrombophilia due to congenital protein C deficiency 'Hereditary thrombophilia due to congenital protein C deficiency' SubClassOf 'Inborn errors of metabolism' 'Hereditary thrombophilia due to congenital protein C deficiency' SubClassOf 'Avascular necrosis of genetic origin' 'Hereditary thrombophilia due to congenital protein C deficiency' SubClassOf 'secondary avascular necrosis' 'Hereditary thrombophilia due to congenital protein C deficiency' SubClassOf 'inherited thrombophilia' http://www.orpha.net/ORDO/Orphanet_744 Proteus syndrome 'Proteus syndrome' SubClassOf 'Genetic vascular anomaly' 'Proteus syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Proteus syndrome' SubClassOf 'Neurocutaneous syndrome with epilepsy' 'Proteus syndrome' SubClassOf 'Overgrowth syndrome' 'Proteus syndrome' SubClassOf 'PTEN hamartoma tumor syndrome' 'Proteus syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_743 Hereditary thrombophilia due to congenital protein S deficiency 'Hereditary thrombophilia due to congenital protein S deficiency' SubClassOf 'inherited thrombophilia' 'Hereditary thrombophilia due to congenital protein S deficiency' SubClassOf 'protein S deficiency' 'Hereditary thrombophilia due to congenital protein S deficiency' SubClassOf 'Avascular necrosis of genetic origin' 'Hereditary thrombophilia due to congenital protein S deficiency' SubClassOf 'secondary avascular necrosis' http://www.orpha.net/ORDO/Orphanet_742 Prolidase deficiency 'Prolidase deficiency' SubClassOf 'Neurometabolic disease' 'Prolidase deficiency' SubClassOf 'Syndromic lymphedema' 'Prolidase deficiency' SubClassOf 'Milroy disease' 'Prolidase deficiency' SubClassOf 'syndromic intellectual disability' 'Prolidase deficiency' SubClassOf 'neurovascular disorder' 'Prolidase deficiency' SubClassOf 'Disorder of peptide metabolism' 'Prolidase deficiency' SubClassOf 'genetic skin disease' 'Prolidase deficiency' SubClassOf 'Syndromic lymphedema' 'Prolidase deficiency' SubClassOf 'Disorder of peptide metabolism' http://www.orpha.net/ORDO/Orphanet_740 Hutchinson-Gilford progeria syndrome 'Hutchinson-Gilford progeria syndrome' SubClassOf 'Primary osteolysis' 'Hutchinson-Gilford progeria syndrome' SubClassOf 'progeria' 'Hutchinson-Gilford progeria syndrome' SubClassOf 'Ectodermal malformation syndrome associated with ocular features' 'Hutchinson-Gilford progeria syndrome' SubClassOf 'autosomal recessive disease' 'Hutchinson-Gilford progeria syndrome' SubClassOf 'laminopathy' 'Hutchinson-Gilford progeria syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Hutchinson-Gilford progeria syndrome' SubClassOf 'Genetic progeroid syndrome' 'Hutchinson-Gilford progeria syndrome' SubClassOf 'syndromic disease' 'Hutchinson-Gilford progeria syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003768 nicotine dependence 'nicotine dependence' SubClassOf 'Rare genetic neurological disorder' 'nicotine dependence' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.ebi.ac.uk/efo/EFO_0003769 endocrine neoplasm 'endocrine neoplasm' SubClassOf 'neoplasm' 'endocrine neoplasm' SubClassOf 'neoplasm' http://www.orpha.net/ORDO/Orphanet_217635 Familial restrictive cardiomyopathy 'Familial restrictive cardiomyopathy' SubClassOf 'familial cardiomyopathy' 'Familial restrictive cardiomyopathy' SubClassOf 'restrictive cardiomyopathy' 'Familial restrictive cardiomyopathy' EquivalentTo 'restrictive cardiomyopathy' and ('has modifier' some 'inherited') 'Familial restrictive cardiomyopathy' SubClassOf 'familial cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_739 Prader-Willi syndrome 'Prader-Willi syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' 'Prader-Willi syndrome' SubClassOf 'Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism' 'Prader-Willi syndrome' SubClassOf 'Congenital hypogonadotropic hypogonadism' 'Prader-Willi syndrome' SubClassOf 'Chromosomal anomaly' 'Prader-Willi syndrome' SubClassOf 'Rare disorder with hypogonadotropic hypogonadism' 'Prader-Willi syndrome' SubClassOf 'complex neurodevelopmental disorder' 'Prader-Willi syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Prader-Willi syndrome' SubClassOf 'Syndromic obesity' 'Prader-Willi syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_738 Porphyria 'Porphyria' SubClassOf 'porphyrin metabolism disease' http://www.orpha.net/ORDO/Orphanet_737 Porokeratosis plantaris palmaris et disseminata 'Porokeratosis plantaris palmaris et disseminata' SubClassOf 'Isolated punctate palmoplantar keratoderma' 'Porokeratosis plantaris palmaris et disseminata' SubClassOf 'porokeratosis' 'Porokeratosis plantaris palmaris et disseminata' SubClassOf 'Isolated punctate palmoplantar keratoderma' http://www.orpha.net/ORDO/Orphanet_735 Porokeratosis of Mibelli 'Porokeratosis of Mibelli' SubClassOf 'porokeratosis' http://www.orpha.net/ORDO/Orphanet_756 Pseudohypoaldosteronism type 1 'Pseudohypoaldosteronism type 1' SubClassOf 'Genetic renal tubular disease' 'Pseudohypoaldosteronism type 1' SubClassOf 'pseudohypoaldosteronism' 'Pseudohypoaldosteronism type 1' SubClassOf 'Genetic renal tubular disease' http://www.orpha.net/ORDO/Orphanet_755 Leydig cell hypoplasia 'Leydig cell hypoplasia' SubClassOf 'Rare male infertility due to testicular endocrine disorder' 'Leydig cell hypoplasia' SubClassOf 'endocrine system disease' 'Leydig cell hypoplasia' SubClassOf '46,XY disorder of sex development due to impaired androgen production' 'Leydig cell hypoplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_754 Androgen insensitivity syndrome 'Androgen insensitivity syndrome' SubClassOf 'male infertility' 'Androgen insensitivity syndrome' SubClassOf 'Genetic 46,XY disorder of sex development of endocrine origin' 'Androgen insensitivity syndrome' SubClassOf 'has modifier' some 'rare' 'Androgen insensitivity syndrome' SubClassOf 'Genetic 46,XY disorder of sex development of endocrine origin' http://www.orpha.net/ORDO/Orphanet_753 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency '46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency' SubClassOf 'Developmental anomaly of metabolic origin' '46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency' SubClassOf 'Disorder of lipid metabolism' '46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency' SubClassOf 'has modifier' some 'rare' '46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency' SubClassOf 'male infertility' '46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency' SubClassOf '46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue' '46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency' SubClassOf 'Rare male infertility due to testicular endocrine disorder' '46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_752 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency '46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency' SubClassOf 'male infertility' '46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency' SubClassOf 'female infertility' '46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency' SubClassOf 'has modifier' some 'rare' '46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency' SubClassOf 'Rare female infertility due to adrenal disorder of genetic origin' '46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency' SubClassOf '46,XY disorder of sex development due to testicular steroidogenesis defect' '46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency' SubClassOf 'Rare male infertility due to testicular endocrine disorder' '46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_750 Pseudoachondroplasia 'Pseudoachondroplasia' SubClassOf 'Multiple epiphyseal dysplasia and pseudoachondroplasia' 'Pseudoachondroplasia' SubClassOf 'osteochondrodysplasia' 'Pseudoachondroplasia' SubClassOf 'Multiple epiphyseal dysplasia and pseudoachondroplasia' http://www.ebi.ac.uk/efo/EFO_0003757 Asperger syndrome 'Asperger syndrome' SubClassOf 'Rare genetic neurological disorder' 'Asperger syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.orpha.net/ORDO/Orphanet_217622 Sensorineural deafness with dilated cardiomyopathy 'Sensorineural deafness with dilated cardiomyopathy' SubClassOf 'Familial dilated cardiomyopathy' http://www.ebi.ac.uk/efo/EFO_0003758 autism 'autism' SubClassOf 'autism spectrum disorder' 'autism' SubClassOf 'autism spectrum disorder' http://purl.obolibrary.org/obo/MONDO_0019587 autosomal dominant nonsyndromic hearing loss 'autosomal dominant nonsyndromic hearing loss' SubClassOf 'Prelingual non-syndromic genetic deafness' 'autosomal dominant nonsyndromic hearing loss' SubClassOf 'Postlingual non-syndromic genetic deafness' 'autosomal dominant nonsyndromic hearing loss' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016297 'autosomal dominant nonsyndromic hearing loss' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016298 http://purl.obolibrary.org/obo/MONDO_0019586 X-linked nonsyndromic hearing loss 'X-linked nonsyndromic hearing loss' SubClassOf 'Prelingual non-syndromic genetic deafness' 'X-linked nonsyndromic hearing loss' SubClassOf 'Postlingual non-syndromic genetic deafness' 'X-linked nonsyndromic hearing loss' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016298 'X-linked nonsyndromic hearing loss' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016297 http://purl.obolibrary.org/obo/MONDO_0019588 hearing loss, autosomal recessive 'hearing loss, autosomal recessive' SubClassOf 'Postlingual non-syndromic genetic deafness' 'hearing loss, autosomal recessive' SubClassOf 'Prelingual non-syndromic genetic deafness' 'hearing loss, autosomal recessive' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016297 'hearing loss, autosomal recessive' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016298 http://www.orpha.net/ORDO/Orphanet_749 Congenital prekallikrein deficiency 'Congenital prekallikrein deficiency' SubClassOf 'prekallikrein deficiency' 'Congenital prekallikrein deficiency' SubClassOf 'hemorrhagic disease' 'Congenital prekallikrein deficiency' EquivalentTo 'prekallikrein deficiency' and ('has modifier' some 'inherited') 'Congenital prekallikrein deficiency' SubClassOf 'coagulation protein disease' http://www.orpha.net/ORDO/Orphanet_748 Mendelian susceptibility to mycobacterial diseases 'Mendelian susceptibility to mycobacterial diseases' SubClassOf 'Genetic susceptibility to infections due to particular pathogens' 'Mendelian susceptibility to mycobacterial diseases' SubClassOf 'Genetic susceptibility to infections due to particular pathogens' http://www.orpha.net/ORDO/Orphanet_746 Mitochondrial trifunctional protein deficiency 'Mitochondrial trifunctional protein deficiency' SubClassOf 'Mitochondrial myopathy' 'Mitochondrial trifunctional protein deficiency' SubClassOf 'Disorder of lipid metabolism' 'Mitochondrial trifunctional protein deficiency' SubClassOf 'Disorder of mitochondrial fatty acid oxidation' 'Mitochondrial trifunctional protein deficiency' SubClassOf 'Mitochondrial myopathy' 'Mitochondrial trifunctional protein deficiency' SubClassOf 'disorder of fatty acid oxidation and ketogenesis' http://www.orpha.net/ORDO/Orphanet_766 Hemolytic anemia due to red cell pyruvate kinase deficiency 'Hemolytic anemia due to red cell pyruvate kinase deficiency' SubClassOf 'congenital nonspherocytic hemolytic anemia' 'Hemolytic anemia due to red cell pyruvate kinase deficiency' SubClassOf 'anemia due to erythrocyte enzyme disorder' 'Hemolytic anemia due to red cell pyruvate kinase deficiency' SubClassOf 'Pyruvate metabolism disorder' 'Hemolytic anemia due to red cell pyruvate kinase deficiency' SubClassOf 'Pyruvate metabolism disorder' http://www.orpha.net/ORDO/Orphanet_765 Pyruvate dehydrogenase deficiency 'Pyruvate dehydrogenase deficiency' SubClassOf 'Cerebral organic aciduria' 'Pyruvate dehydrogenase deficiency' SubClassOf 'inborn mitochondrial metabolism disorder' 'Pyruvate dehydrogenase deficiency' SubClassOf 'Disorder of carbohydrate metabolism' 'Pyruvate dehydrogenase deficiency' SubClassOf 'metabolic epilepsy' 'Pyruvate dehydrogenase deficiency' SubClassOf 'Pyruvate metabolism disorder' 'Pyruvate dehydrogenase deficiency' SubClassOf 'Mitochondrial disease' 'Pyruvate dehydrogenase deficiency' SubClassOf 'Pyruvate metabolism disorder' http://www.orpha.net/ORDO/Orphanet_171886 Cylindrical spirals myopathy 'Cylindrical spirals myopathy' SubClassOf 'Congenital myopathy' 'Cylindrical spirals myopathy' SubClassOf 'Congenital myopathy' http://www.orpha.net/ORDO/Orphanet_171889 Myopathy with hexagonally cross-linked tubular arrays 'Myopathy with hexagonally cross-linked tubular arrays' SubClassOf 'Congenital myopathy' 'Myopathy with hexagonally cross-linked tubular arrays' SubClassOf 'Congenital myopathy' http://www.orpha.net/ORDO/Orphanet_763 Pycnodysostosis 'Pycnodysostosis' SubClassOf 'Lysosomal disease' 'Pycnodysostosis' SubClassOf 'Osteopetrosis' 'Pycnodysostosis' SubClassOf 'osteochondrodysplasia' 'Pycnodysostosis' SubClassOf 'Lysosomal disease' 'Pycnodysostosis' SubClassOf 'Osteopetrosis' http://www.orpha.net/ORDO/Orphanet_760 Purine nucleoside phosphorylase deficiency 'Purine nucleoside phosphorylase deficiency' SubClassOf 'Disorder of purine metabolism' 'Purine nucleoside phosphorylase deficiency' SubClassOf 'non-SCID combined immunodeficiency' 'Purine nucleoside phosphorylase deficiency' SubClassOf 'Combined T and B cell immunodeficiency' 'Purine nucleoside phosphorylase deficiency' SubClassOf 'Disorder of purine metabolism' http://www.ebi.ac.uk/efo/EFO_0003783 progressive bulbar palsy 'progressive bulbar palsy' SubClassOf 'Riboflavin transporter deficiency' 'progressive bulbar palsy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0008891 http://purl.obolibrary.org/obo/MONDO_0020595 disorder of retroperitoneum 'disorder of retroperitoneum' SubClassOf 'abdominal and pelvic region disorder' 'disorder of retroperitoneum' SubClassOf 'disease' http://www.orpha.net/ORDO/Orphanet_217656 Familial isolated arrhythmogenic right ventricular dysplasia 'Familial isolated arrhythmogenic right ventricular dysplasia' EquivalentTo 'Arrhythmogenic right ventricular dysplasia' and ('has modifier' some 'has an isolated presentation') 'Familial isolated arrhythmogenic right ventricular dysplasia' SubClassOf 'Arrhythmogenic right ventricular dysplasia' 'Familial isolated arrhythmogenic right ventricular dysplasia' SubClassOf 'has modifier' some 'has an isolated presentation' 'Familial isolated arrhythmogenic right ventricular dysplasia' SubClassOf 'Arrhythmogenic right ventricular dysplasia' http://www.orpha.net/ORDO/Orphanet_758 Pseudoxanthoma elasticum 'Pseudoxanthoma elasticum' SubClassOf 'developmental defect during embryogenesis' 'Pseudoxanthoma elasticum' SubClassOf 'Familial restrictive cardiomyopathy' 'Pseudoxanthoma elasticum' SubClassOf 'inherited pseudoxanthoma elasticum' 'Pseudoxanthoma elasticum' SubClassOf 'Genetic dermis elastic tissue disorder' 'Pseudoxanthoma elasticum' SubClassOf 'autosomal recessive disease' 'Pseudoxanthoma elasticum' SubClassOf 'Genetic hypertension' 'Pseudoxanthoma elasticum' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'Pseudoxanthoma elasticum' SubClassOf 'Familial restrictive cardiomyopathy' 'Pseudoxanthoma elasticum' SubClassOf 'Genetic dermis elastic tissue disorder' 'Pseudoxanthoma elasticum' SubClassOf 'Genetic hypertension' http://www.orpha.net/ORDO/Orphanet_757 Pseudohypoaldosteronism type 2 'Pseudohypoaldosteronism type 2' SubClassOf 'pseudohypoaldosteronism' 'Pseudohypoaldosteronism type 2' SubClassOf 'Genetic hypertension' 'Pseudohypoaldosteronism type 2' SubClassOf 'Genetic hypertension' http://www.orpha.net/ORDO/Orphanet_778 Rett syndrome 'Rett syndrome' SubClassOf 'Rare pervasive developmental disorder' 'Rett syndrome' SubClassOf 'pervasive developmental disorder' 'Rett syndrome' SubClassOf 'disease has feature' some 'autism' 'Rett syndrome' SubClassOf 'X-linked complex neurodevelopmental disorder' 'Rett syndrome' SubClassOf 'Motor stereotypies' 'Rett syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Rett syndrome' SubClassOf 'Monogenic disease with epilepsy' 'Rett syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_777 X-linked non-syndromic intellectual disability 'X-linked non-syndromic intellectual disability' SubClassOf 'X-linked intellectual disability' 'X-linked non-syndromic intellectual disability' SubClassOf 'non-syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_776 X-linked intellectual disability with marfanoid habitus 'X-linked intellectual disability with marfanoid habitus' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability with marfanoid habitus' SubClassOf 'congenital nervous system disorder' 'X-linked intellectual disability with marfanoid habitus' SubClassOf 'MED12-related intellectual disability syndrome' 'X-linked intellectual disability with marfanoid habitus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_775 X-linked intellectual disability, Martinez type 'X-linked intellectual disability, Martinez type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Martinez type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 http://www.orpha.net/ORDO/Orphanet_774 Hereditary hemorrhagic telangiectasia 'Hereditary hemorrhagic telangiectasia' SubClassOf 'capillary malformation' 'Hereditary hemorrhagic telangiectasia' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'Hereditary hemorrhagic telangiectasia' SubClassOf 'telangiectasis' 'Hereditary hemorrhagic telangiectasia' SubClassOf 'skin vascular disease' 'Hereditary hemorrhagic telangiectasia' SubClassOf 'autosomal dominant disease' 'Hereditary hemorrhagic telangiectasia' SubClassOf 'Genetic neurovascular malformation' 'Hereditary hemorrhagic telangiectasia' SubClassOf 'genetic skin disease' 'Hereditary hemorrhagic telangiectasia' SubClassOf 'developmental defect during embryogenesis' 'Hereditary hemorrhagic telangiectasia' SubClassOf 'Genetic neurovascular malformation' http://www.orpha.net/ORDO/Orphanet_773 Refsum disease 'Refsum disease' SubClassOf 'Neurometabolic disease' 'Refsum disease' SubClassOf 'phytanoyl-CoA hydroxylase deficiency' 'Refsum disease' SubClassOf 'Syndromic ichthyosis associated with ocular features' 'Refsum disease' SubClassOf 'Disorder of peroxisomal alpha-, beta- and omega-oxidation' 'Refsum disease' SubClassOf 'Genetic peripheral neuropathy' 'Refsum disease' SubClassOf 'Neurometabolic disease' 'Refsum disease' SubClassOf 'Peroxisomal disease' 'Refsum disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017263 http://www.orpha.net/ORDO/Orphanet_772 Infantile Refsum disease 'Infantile Refsum disease' SubClassOf 'Metabolic disease with pigmentary retinitis' 'Infantile Refsum disease' SubClassOf 'Peroxisome biogenesis disorder-Zellweger syndrome spectrum' 'Infantile Refsum disease' SubClassOf 'Unclassified primitive or secondary maculopathy' 'Infantile Refsum disease' SubClassOf 'Autosomal recessive metabolic cerebellar ataxia' 'Infantile Refsum disease' SubClassOf 'Developmental anomaly of metabolic origin' 'Infantile Refsum disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020587 factor XI deficiency 'factor XI deficiency' SubClassOf 'Hemophilia' 'factor XI deficiency' SubClassOf 'autosomal genetic disease' 'factor XI deficiency' SubClassOf 'hemorrhagic disease' 'factor XI deficiency' SubClassOf 'congenital hematological disorder' 'factor XI deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018660 http://purl.obolibrary.org/obo/MONDO_0020583 chromosome 17 disorder 'chromosome 17 disorder' SubClassOf 'Autosomal anomaly' 'chromosome 17 disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020049 http://www.ebi.ac.uk/efo/EFO_0003779 Hashimoto's thyroiditis 'Hashimoto's thyroiditis' SubClassOf 'autoimmune thyroid disease' 'Hashimoto's thyroiditis' SubClassOf 'autoimmune thyroid disease' http://www.ebi.ac.uk/efo/EFO_0003777 heart disease 'heart disease' SubClassOf 'thoracic disorder' http://www.orpha.net/ORDO/Orphanet_769 Rabson-Mendenhall syndrome 'Rabson-Mendenhall syndrome' SubClassOf 'Hypertrichosis' 'Rabson-Mendenhall syndrome' SubClassOf 'syndromic disease' 'Rabson-Mendenhall syndrome' SubClassOf 'Rare insulin-resistance syndrome' 'Rabson-Mendenhall syndrome' SubClassOf 'diabetes mellitus' 'Rabson-Mendenhall syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_768 Familial long QT syndrome 'Familial long QT syndrome' SubClassOf 'Genetic cardiac rhythm disease' 'Familial long QT syndrome' SubClassOf 'syndromic disease' 'Familial long QT syndrome' SubClassOf 'congenital heart disease' 'Familial long QT syndrome' SubClassOf 'disease has feature' some 'torsades de pointes' 'Familial long QT syndrome' SubClassOf 'Genetic cardiac rhythm disease' http://www.orpha.net/ORDO/Orphanet_171863 Autosomal dominant spastic paraplegia type 42 'Autosomal dominant spastic paraplegia type 42' SubClassOf 'Autosomal dominant pure spastic paraplegia' 'Autosomal dominant spastic paraplegia type 42' SubClassOf 'Autosomal dominant pure spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_786 Glucocorticoid resistance 'Glucocorticoid resistance' SubClassOf 'Adrenogenital syndrome' 'Glucocorticoid resistance' SubClassOf '46,XX disorder of sex development induced by fetal androgens excess' 'Glucocorticoid resistance' SubClassOf 'Developmental anomaly of metabolic origin' 'Glucocorticoid resistance' SubClassOf 'Disorder of lipid metabolism' 'Glucocorticoid resistance' SubClassOf 'Adrenogenital syndrome' 'Glucocorticoid resistance' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019593 http://www.orpha.net/ORDO/Orphanet_171866 Spondyloepimetaphyseal dysplasia, aggrecan type 'Spondyloepimetaphyseal dysplasia, aggrecan type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepimetaphyseal dysplasia, aggrecan type' SubClassOf 'Aggrecan-related bone disorder' 'Spondyloepimetaphyseal dysplasia, aggrecan type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepimetaphyseal dysplasia, aggrecan type' SubClassOf 'Aggrecan-related bone disorder' http://www.orpha.net/ORDO/Orphanet_783 Rubinstein-Taybi syndrome 'Rubinstein-Taybi syndrome' SubClassOf 'Unclassified primitive or secondary maculopathy' 'Rubinstein-Taybi syndrome' SubClassOf 'Syndromic obesity' 'Rubinstein-Taybi syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Rubinstein-Taybi syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Rubinstein-Taybi syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'Rubinstein-Taybi syndrome' SubClassOf 'inherited nervous system cancer-predisposing syndrome' 'Rubinstein-Taybi syndrome' SubClassOf 'congenital limb malformation' 'Rubinstein-Taybi syndrome' SubClassOf 'intellectual disability, autosomal dominant' 'Rubinstein-Taybi syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'Rubinstein-Taybi syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Rubinstein-Taybi syndrome' SubClassOf 'Rare disease with glaucoma as a major feature' 'Rubinstein-Taybi syndrome' SubClassOf 'congenital nervous system disorder' 'Rubinstein-Taybi syndrome' SubClassOf 'syndromic intellectual disability' 'Rubinstein-Taybi syndrome' SubClassOf 'Lens shape anomaly' 'Rubinstein-Taybi syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Rubinstein-Taybi syndrome' SubClassOf 'Syndrome with brachydactyly' 'Rubinstein-Taybi syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 16' 'Rubinstein-Taybi syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Rubinstein-Taybi syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_782 Axenfeld-Rieger syndrome 'Axenfeld-Rieger syndrome' SubClassOf 'Rare disease with glaucoma as a major feature' 'Axenfeld-Rieger syndrome' SubClassOf 'neurocristopathy' 'Axenfeld-Rieger syndrome' SubClassOf 'Disease associated with non-acquired combined pituitary hormone deficiency' 'Axenfeld-Rieger syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Axenfeld-Rieger syndrome' SubClassOf 'Iridogoniodysgenesis' 'Axenfeld-Rieger syndrome' SubClassOf 'Syndromic anorectal malformation' 'Axenfeld-Rieger syndrome' SubClassOf 'Isolated anorectal malformation' 'Axenfeld-Rieger syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0032591 hyperparathyroidism, transient neonatal 'hyperparathyroidism, transient neonatal' SubClassOf 'Genetic hyperparathyroidism' 'hyperparathyroidism, transient neonatal' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016166 http://purl.obolibrary.org/obo/MONDO_0032594 intellectual developmental disorder and retinitis pigmentosa; IDDRP 'intellectual developmental disorder and retinitis pigmentosa; IDDRP' SubClassOf 'Rare genetic neurological disorder' 'intellectual developmental disorder and retinitis pigmentosa; IDDRP' SubClassOf 'disease has feature' some 'Retinitis pigmentosa' 'intellectual developmental disorder and retinitis pigmentosa; IDDRP' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/MONDO_0019200 'intellectual developmental disorder and retinitis pigmentosa; IDDRP' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.orpha.net/ORDO/Orphanet_171871 Renal pseudohypoaldosteronism type 1 'Renal pseudohypoaldosteronism type 1' SubClassOf 'Pseudohypoaldosteronism type 1' 'Renal pseudohypoaldosteronism type 1' SubClassOf 'Pseudohypoaldosteronism type 1' http://www.orpha.net/ORDO/Orphanet_799 Schizencephaly 'Schizencephaly' SubClassOf 'COL4A1 or COL4A2-related cerebral small vessel disease' 'Schizencephaly' SubClassOf 'Encephaloclastic disorder' 'Schizencephaly' SubClassOf 'congenital nervous system disorder' 'Schizencephaly' SubClassOf 'Encephaloclastic disorder' http://www.orpha.net/ORDO/Orphanet_171876 Generalized pseudohypoaldosteronism type 1 'Generalized pseudohypoaldosteronism type 1' SubClassOf 'Pseudohypoaldosteronism type 1' 'Generalized pseudohypoaldosteronism type 1' SubClassOf 'Pseudohypoaldosteronism type 1' http://www.orpha.net/ORDO/Orphanet_798 Schinzel-Giedion syndrome 'Schinzel-Giedion syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'Schinzel-Giedion syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Schinzel-Giedion syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Schinzel-Giedion syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Schinzel-Giedion syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Schinzel-Giedion syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' 'Schinzel-Giedion syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_797 Sarcoidosis 'Sarcoidosis' SubClassOf 'granulomatous autoinflammatory syndrome' http://www.orpha.net/ORDO/Orphanet_796 Sandhoff disease 'Sandhoff disease' SubClassOf 'Metabolic disease with macular cherry-red spot' 'Sandhoff disease' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' 'Sandhoff disease' SubClassOf 'cerebral lipidosis with dementia' 'Sandhoff disease' SubClassOf 'Genetic peripheral neuropathy' 'Sandhoff disease' SubClassOf 'eye degenerative disorder' 'Sandhoff disease' SubClassOf 'GM2 gangliosidosis' 'Sandhoff disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_794 Saethre-Chotzen syndrome 'Saethre-Chotzen syndrome' SubClassOf 'Eyelids malposition disorder' 'Saethre-Chotzen syndrome' SubClassOf 'Acrocephalosyndactyly' 'Saethre-Chotzen syndrome' SubClassOf 'Ptosis' 'Saethre-Chotzen syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Saethre-Chotzen syndrome' SubClassOf 'Craniostenosis associated with a strabismus' 'Saethre-Chotzen syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_792 X-linked retinoschisis 'X-linked retinoschisis' SubClassOf 'Vitreoretinal degeneration' 'X-linked retinoschisis' SubClassOf 'retinoschisis' 'X-linked retinoschisis' SubClassOf 'Non-syndromic developmental defect of the eye' 'X-linked retinoschisis' SubClassOf 'X-linked disease' 'X-linked retinoschisis' SubClassOf 'Unclassified primitive or secondary maculopathy' 'X-linked retinoschisis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_791 Retinitis pigmentosa 'Retinitis pigmentosa' SubClassOf 'Retinal dystrophy' 'Retinitis pigmentosa' SubClassOf 'Retinal dystrophy' http://www.orpha.net/ORDO/Orphanet_790 Retinoblastoma 'Retinoblastoma' SubClassOf 'retinal cell cancer' 'Retinoblastoma' SubClassOf 'retinopathy' http://www.orpha.net/ORDO/Orphanet_171881 Cap myopathy 'Cap myopathy' SubClassOf 'alpha-actinopathy' 'Cap myopathy' SubClassOf 'TPM3-related myopathy' 'Cap myopathy' SubClassOf 'Qualitative or quantitative defects of tropomyosin' 'Cap myopathy' SubClassOf 'Congenital myopathy' http://www.orpha.net/ORDO/Orphanet_156224 Paralytic facial malformation 'Paralytic facial malformation' SubClassOf 'Genetic head and neck malformation' 'Paralytic facial malformation' SubClassOf 'developmental defect during embryogenesis' 'Paralytic facial malformation' SubClassOf 'disorder of facial skeleton' 'Paralytic facial malformation' SubClassOf 'Genetic head and neck malformation' http://www.orpha.net/ORDO/Orphanet_171844 Blindness-scoliosis-arachnodactyly syndrome 'Blindness-scoliosis-arachnodactyly syndrome' SubClassOf 'eye disease' 'Blindness-scoliosis-arachnodactyly syndrome' SubClassOf 'developmental defect during embryogenesis' 'Blindness-scoliosis-arachnodactyly syndrome' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_171848 Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract 'Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract' SubClassOf 'autosomal recessive disease' 'Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract' SubClassOf 'Rare syndromic dyslipidemia' 'Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract' SubClassOf 'Syndromic retinitis pigmentosa' 'Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract' SubClassOf 'Genetic peripheral neuropathy' 'Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract' SubClassOf 'Syndromic genetic deafness' 'Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract' SubClassOf 'Developmental anomaly of metabolic origin' 'Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract' SubClassOf 'Syndromic retinitis pigmentosa' 'Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_156252 Tracheal anomaly 'Tracheal anomaly' SubClassOf 'otorhinolaryngologic disease' 'Tracheal anomaly' SubClassOf 'developmental defect during embryogenesis' 'Tracheal anomaly' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_171851 MEDNIK syndrome 'MEDNIK syndrome' SubClassOf 'Autosomal ichthyosis syndrome with prominent neurologics signs' 'MEDNIK syndrome' SubClassOf 'syndromic intellectual disability' 'MEDNIK syndrome' SubClassOf 'Syndromic genetic deafness' 'MEDNIK syndrome' SubClassOf 'erythrokeratoderma' 'MEDNIK syndrome' SubClassOf 'Genetic erythrokeratoderma' 'MEDNIK syndrome' SubClassOf 'Disorder of copper metabolism' 'MEDNIK syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'MEDNIK syndrome' SubClassOf 'Developmental anomaly of metabolic origin' 'MEDNIK syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_156249 Larynx anomaly 'Larynx anomaly' SubClassOf 'otorhinolaryngologic disease' 'Larynx anomaly' SubClassOf 'developmental defect during embryogenesis' 'Larynx anomaly' SubClassOf 'genetic otorhinolaryngologic disease' http://www.orpha.net/ORDO/Orphanet_171860 Intellectual disability - cataracts - kyphosis 'Intellectual disability - cataracts - kyphosis' SubClassOf 'syndromic intellectual disability' 'Intellectual disability - cataracts - kyphosis' SubClassOf 'Syndromic cataract' 'Intellectual disability - cataracts - kyphosis' SubClassOf 'Syndromic cataract' http://www.orpha.net/ORDO/Orphanet_2990 Autosomal recessive multiple pterygium syndrome 'Autosomal recessive multiple pterygium syndrome' SubClassOf 'autosomal recessive disease' 'Autosomal recessive multiple pterygium syndrome' SubClassOf 'Genetic dermis disorder' 'Autosomal recessive multiple pterygium syndrome' SubClassOf 'syndromic disease' 'Autosomal recessive multiple pterygium syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Autosomal recessive multiple pterygium syndrome' SubClassOf 'Multiple pterygium syndrome' 'Autosomal recessive multiple pterygium syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019276 'Autosomal recessive multiple pterygium syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Autosomal recessive multiple pterygium syndrome' SubClassOf 'Multiple pterygium syndrome' http://www.orpha.net/ORDO/Orphanet_313838 Coats plus syndrome 'Coats plus syndrome' SubClassOf 'Congenital vitreoretinal dysplasia' 'Coats plus syndrome' SubClassOf 'telomere syndrome' 'Coats plus syndrome' SubClassOf 'cerebral small vessel disease' 'Coats plus syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2999 Ptosis - strabismus - ectopic pupils 'Ptosis - strabismus - ectopic pupils' SubClassOf 'Eyelids malposition disorder' http://www.orpha.net/ORDO/Orphanet_171829 6q16 deletion syndrome '6q16 deletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 6' '6q16 deletion syndrome' SubClassOf 'Prader-Willi-like syndrome' '6q16 deletion syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2997 Ptosis - vocal cord paralysis 'Ptosis - vocal cord paralysis' SubClassOf 'Eyelids malposition disorder' http://www.orpha.net/ORDO/Orphanet_2995 Baraitser-Winter syndrome 'Baraitser-Winter syndrome' SubClassOf 'Eyelids malposition disorder' 'Baraitser-Winter syndrome' SubClassOf 'Lissencephaly' 'Baraitser-Winter syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Baraitser-Winter syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_2994 Short stature - craniofacial anomalies - genital hypoplasia 'Short stature - craniofacial anomalies - genital hypoplasia' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Short stature - craniofacial anomalies - genital hypoplasia' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_171839 Craniosynostosis - hydrocephalus - Arnold-Chiari malformation type I - radioulnar synostosis 'Craniosynostosis - hydrocephalus - Arnold-Chiari malformation type I - radioulnar synostosis' SubClassOf 'Syndromic craniosynostosis' 'Craniosynostosis - hydrocephalus - Arnold-Chiari malformation type I - radioulnar synostosis' SubClassOf 'Syndromic craniosynostosis' http://www.orpha.net/ORDO/Orphanet_313846 Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome 'Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome' SubClassOf 'skin vascular disease' 'Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome' SubClassOf 'genetic skin disease' 'Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' 'Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' http://www.orpha.net/ORDO/Orphanet_313808 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia 'Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia' SubClassOf 'Leukodystrophy' 'Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia' SubClassOf 'Leukodystrophy' http://www.orpha.net/ORDO/Orphanet_156215 Oromandibular-limb anomalies syndrome 'Oromandibular-limb anomalies syndrome' SubClassOf 'Hypoglossia/aglossia' 'Oromandibular-limb anomalies syndrome' SubClassOf 'Hypoglossia/aglossia' http://www.orpha.net/ORDO/Orphanet_156212 Hypoglossia/aglossia 'Hypoglossia/aglossia' SubClassOf 'Genetic head and neck malformation' 'Hypoglossia/aglossia' SubClassOf 'developmental defect during embryogenesis' 'Hypoglossia/aglossia' SubClassOf 'disorder of facial skeleton' 'Hypoglossia/aglossia' SubClassOf 'Genetic head and neck malformation' http://www.orpha.net/ORDO/Orphanet_156207 Macroglossia 'Macroglossia' SubClassOf 'Genetic head and neck malformation' 'Macroglossia' SubClassOf 'developmental defect during embryogenesis' 'Macroglossia' SubClassOf 'disorder of facial skeleton' 'Macroglossia' SubClassOf 'Genetic head and neck malformation' http://www.orpha.net/ORDO/Orphanet_701 Alopecia universalis 'Alopecia universalis' SubClassOf 'alopecia, isolated' 'Alopecia universalis' SubClassOf 'Alopecia' http://www.orpha.net/ORDO/Orphanet_700 Alopecia totalis 'Alopecia totalis' SubClassOf 'Alopecia' 'Alopecia totalis' SubClassOf 'genetic alopecia' 'Alopecia totalis' SubClassOf 'Alopecia' http://www.orpha.net/ORDO/Orphanet_71859 Rare genetic neurological disorder 'Rare genetic neurological disorder' EquivalentTo 'nervous system disease' and ('has modifier' some 'inherited') 'Rare genetic neurological disorder' SubClassOf 'has modifier' some 'rare' 'Rare genetic neurological disorder' SubClassOf 'nervous system disease' http://www.orpha.net/ORDO/Orphanet_2956 Prata-Liberal-Goncalves syndrome 'Prata-Liberal-Goncalves syndrome' SubClassOf 'dysostosis' 'Prata-Liberal-Goncalves syndrome' SubClassOf 'Syndrome with brachydactyly' 'Prata-Liberal-Goncalves syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2953 Ehlers-Danlos syndrome, musculocontractural type 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf 'Congenital disorder of glycosylation with nephropathy as a major feature' 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf 'Congenital disorder of glycosylation with cardiac malformation as a major feature' 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf 'congenital nervous system disorder' 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf 'Distal arthrogryposis' 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf 'heart disease' 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf 'Congenital disorder of glycosylation with skin involvement' 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf 'Disorder of O-xylosylglycan synthesis' 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2952 Adducted thumbs - arthrogryposis, Christian type 'Adducted thumbs - arthrogryposis, Christian type' SubClassOf 'Arthrogryposis multiplex congenita' 'Adducted thumbs - arthrogryposis, Christian type' SubClassOf 'Arthrogryposis multiplex congenita' http://www.orpha.net/ORDO/Orphanet_2951 Absent thumb - short stature - immunodeficiency 'Absent thumb - short stature - immunodeficiency' SubClassOf 'Primary immunodeficiency due to a defect in adaptive immunity' http://www.orpha.net/ORDO/Orphanet_2950 Triphalangeal thumb - polysyndactyly syndrome 'Triphalangeal thumb - polysyndactyly syndrome' SubClassOf 'disease has major feature' some 'Polydactyly of a triphalangeal thumb' 'Triphalangeal thumb - polysyndactyly syndrome' SubClassOf 'congenital limb malformation' http://www.orpha.net/ORDO/Orphanet_2947 Triphalangeal thumbs - brachyectrodactyly 'Triphalangeal thumbs - brachyectrodactyly' SubClassOf 'congenital limb malformation' http://www.orpha.net/ORDO/Orphanet_2946 Brachydactyly - long thumb 'Brachydactyly - long thumb' SubClassOf 'Heart-hand syndrome' 'Brachydactyly - long thumb' SubClassOf 'Genetic cardiac rhythm disease' 'Brachydactyly - long thumb' SubClassOf 'Heart-hand syndrome' 'Brachydactyly - long thumb' SubClassOf 'Genetic cardiac rhythm disease' http://www.orpha.net/ORDO/Orphanet_712 Hemolytic anemia due to glucophosphate isomerase deficiency 'Hemolytic anemia due to glucophosphate isomerase deficiency' SubClassOf 'anemia due to erythrocyte enzyme disorder' 'Hemolytic anemia due to glucophosphate isomerase deficiency' SubClassOf 'congenital nonspherocytic hemolytic anemia' 'Hemolytic anemia due to glucophosphate isomerase deficiency' SubClassOf 'Disorder of glycolysis' 'Hemolytic anemia due to glucophosphate isomerase deficiency' SubClassOf 'Disorder of glycolysis' http://www.orpha.net/ORDO/Orphanet_710 Pfeiffer syndrome 'Pfeiffer syndrome' SubClassOf 'acrocephalopolysyndactyly' 'Pfeiffer syndrome' SubClassOf 'Craniostenosis associated with a strabismus' 'Pfeiffer syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2967 Protein R deficiency 'Protein R deficiency' SubClassOf 'Disorder of cobalamin metabolism and transport' 'Protein R deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2966 Properdin deficiency 'Properdin deficiency' SubClassOf 'primary immunodeficiency disease' http://www.orpha.net/ORDO/Orphanet_2964 Autosomal dominant prognathism 'Autosomal dominant prognathism' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Autosomal dominant prognathism' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_2963 Progeroid syndrome, Petty type 'Progeroid syndrome, Petty type' SubClassOf 'Ectodermal dysplasia syndrome' 'Progeroid syndrome, Petty type' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Progeroid syndrome, Petty type' SubClassOf 'progeroid syndrome' 'Progeroid syndrome, Petty type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019303 http://www.orpha.net/ORDO/Orphanet_2962 De Barsy syndrome 'De Barsy syndrome' SubClassOf 'autosomal recessive disease' 'De Barsy syndrome' SubClassOf 'Premature aging' 'De Barsy syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019303 http://www.orpha.net/ORDO/Orphanet_313800 Optic nerve edema-splenomegaly syndrome 'Optic nerve edema-splenomegaly syndrome' SubClassOf 'Optic neuropathy' 'Optic nerve edema-splenomegaly syndrome' SubClassOf 'Optic neuropathy' http://www.orpha.net/ORDO/Orphanet_2959 Progéria - short stature - pigmented nevi 'Progéria - short stature - pigmented nevi' SubClassOf 'progeroid syndrome' 'Progéria - short stature - pigmented nevi' SubClassOf 'Genetic progeroid syndrome' 'Progéria - short stature - pigmented nevi' SubClassOf 'progeroid syndrome' http://www.orpha.net/ORDO/Orphanet_2958 X-linked intellectual disability - dysmorphism - cerebral atrophy 'X-linked intellectual disability - dysmorphism - cerebral atrophy' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability - dysmorphism - cerebral atrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 http://www.orpha.net/ORDO/Orphanet_2957 Guttmacher syndrome 'Guttmacher syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Guttmacher syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'Guttmacher syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_709 Peters plus syndrome 'Peters plus syndrome' SubClassOf 'syndromic disease' 'Peters plus syndrome' SubClassOf 'Rare disease with glaucoma as a major feature' 'Peters plus syndrome' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'Peters plus syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Peters plus syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Peters plus syndrome' SubClassOf 'eye disease' 'Peters plus syndrome' SubClassOf 'congenital nervous system disorder' 'Peters plus syndrome' SubClassOf 'Disorder of fucoglycosan synthesis' 'Peters plus syndrome' SubClassOf 'heart disease' 'Peters plus syndrome' SubClassOf 'Congenital disorder of glycosylation with cardiac malformation as a major feature' 'Peters plus syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_708 Peters anomaly 'Peters anomaly' SubClassOf 'Familial ocular anterior segment mesenchymal dysgenesis' 'Peters anomaly' SubClassOf 'corneal disease' 'Peters anomaly' SubClassOf 'Corneoiridogoniodysgenesis' 'Peters anomaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_705 Pendred syndrome 'Pendred syndrome' SubClassOf 'autosomal recessive disease' 'Pendred syndrome' SubClassOf 'Syndromic genetic deafness' 'Pendred syndrome' SubClassOf 'Syndromic hypothyroidism' 'Pendred syndrome' SubClassOf 'congenital nervous system disorder' 'Pendred syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_702 Pelizaeus-Merzbacher disease 'Pelizaeus-Merzbacher disease' SubClassOf 'X-linked syndromic intellectual disability' 'Pelizaeus-Merzbacher disease' SubClassOf 'Leukodystrophy' 'Pelizaeus-Merzbacher disease' SubClassOf 'eye degenerative disorder' 'Pelizaeus-Merzbacher disease' SubClassOf 'syndromic hereditary optic neuropathy' 'Pelizaeus-Merzbacher disease' SubClassOf 'Abnormal eye movements' 'Pelizaeus-Merzbacher disease' SubClassOf 'X-linked recessive optic atrophy' 'Pelizaeus-Merzbacher disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2970 Prune belly syndrome 'Prune belly syndrome' SubClassOf 'fetal lower urinary tract obstruction' 'Prune belly syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'Prune belly syndrome' SubClassOf 'Syndromic urogenital tract malformation' http://www.orpha.net/ORDO/Orphanet_722 Hypoplasminogenemia 'Hypoplasminogenemia' SubClassOf 'coagulation protein disease' 'Hypoplasminogenemia' SubClassOf 'Rare genetic coagulation disorder' http://www.orpha.net/ORDO/Orphanet_721 Gray platelet syndrome 'Gray platelet syndrome' SubClassOf 'inherited bleeding disorder, platelet-type' 'Gray platelet syndrome' SubClassOf 'Alpha granule disease' 'Gray platelet syndrome' SubClassOf 'syndromic disease' 'Gray platelet syndrome' SubClassOf 'Alpha granule disease' http://www.orpha.net/ORDO/Orphanet_720 Pili bifurcati 'Pili bifurcati' SubClassOf 'Isolated hair shaft abnormality' 'Pili bifurcati' SubClassOf 'Isolated hair shaft abnormality' http://www.orpha.net/ORDO/Orphanet_2978 Chronic intestinal pseudoobstruction 'Chronic intestinal pseudoobstruction' SubClassOf 'has modifier' some 'rare' 'Chronic intestinal pseudoobstruction' SubClassOf 'ileus' 'Chronic intestinal pseudoobstruction' SubClassOf 'intestinal motility disease' http://www.orpha.net/ORDO/Orphanet_2976 Pseudoleprechaunism syndrome, Patterson type 'Pseudoleprechaunism syndrome, Patterson type' SubClassOf 'has modifier' some 'rare' 'Pseudoleprechaunism syndrome, Patterson type' SubClassOf 'adrenal gland disease' http://www.orpha.net/ORDO/Orphanet_2975 46,XX disorder of sex development - skeletal anomalies '46,XX disorder of sex development - skeletal anomalies' SubClassOf 'Genetic 46,XX disorder of sex development' http://www.orpha.net/ORDO/Orphanet_2973 46,XX disorder of sex development - anorectal anomalies '46,XX disorder of sex development - anorectal anomalies' SubClassOf 'Genetic 46,XX disorder of sex development' '46,XX disorder of sex development - anorectal anomalies' SubClassOf 'syndromic uterovaginal malformation' '46,XX disorder of sex development - anorectal anomalies' SubClassOf 'Syndromic anorectal malformation' '46,XX disorder of sex development - anorectal anomalies' SubClassOf 'Syndromic anorectal malformation' http://www.orpha.net/ORDO/Orphanet_2972 Non-eruption of teeth - maxillary hypoplasia - genu valgum 'Non-eruption of teeth - maxillary hypoplasia - genu valgum' SubClassOf 'has modifier' some 'rare' 'Non-eruption of teeth - maxillary hypoplasia - genu valgum' SubClassOf 'disorder of development or morphogenesis' http://www.orpha.net/ORDO/Orphanet_2971 Peroxisomal acyl-CoA oxidase deficiency 'Peroxisomal acyl-CoA oxidase deficiency' SubClassOf 'Peroxisomal beta-oxidation disorder' 'Peroxisomal acyl-CoA oxidase deficiency' SubClassOf 'Peroxisomal beta-oxidation disorder' http://www.orpha.net/ORDO/Orphanet_2969 Proteus-like syndrome 'Proteus-like syndrome' SubClassOf 'Genetic skin tumor' 'Proteus-like syndrome' SubClassOf 'disease shares features of' some 'Proteus syndrome' 'Proteus-like syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2968 Leukocyte adhesion deficiency 'Leukocyte adhesion deficiency' SubClassOf 'autosomal recessive disease' 'Leukocyte adhesion deficiency' SubClassOf 'Functional neutrophil defect' 'Leukocyte adhesion deficiency' SubClassOf 'Functional neutrophil defect' http://www.orpha.net/ORDO/Orphanet_718 Isolated Pierre Robin syndrome 'Isolated Pierre Robin syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Isolated Pierre Robin syndrome' SubClassOf 'Rare disease with glaucoma as a major feature' 'Isolated Pierre Robin syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Isolated Pierre Robin syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_716 Phenylketonuria 'Phenylketonuria' SubClassOf 'Disorder of phenylalanine metabolism' 'Phenylketonuria' SubClassOf 'Neurometabolic disease' 'Phenylketonuria' SubClassOf 'autosomal recessive disease' 'Phenylketonuria' SubClassOf 'Cerebral organic aciduria' 'Phenylketonuria' SubClassOf 'Disorder of phenylalanine metabolism' 'Phenylketonuria' SubClassOf 'Neurometabolic disease' http://www.orpha.net/ORDO/Orphanet_715 Glycogen storage disease due to muscle phosphorylase kinase deficiency 'Glycogen storage disease due to muscle phosphorylase kinase deficiency' SubClassOf 'Muscular glycogenosis' 'Glycogen storage disease due to muscle phosphorylase kinase deficiency' SubClassOf 'Glycogen storage disease due to phosphorylase kinase deficiency' 'Glycogen storage disease due to muscle phosphorylase kinase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_714 Hemolytic anemia due to diphosphoglycerate mutase deficiency 'Hemolytic anemia due to diphosphoglycerate mutase deficiency' SubClassOf 'anemia due to erythrocyte enzyme disorder' 'Hemolytic anemia due to diphosphoglycerate mutase deficiency' SubClassOf 'Inborn errors of metabolism' 'Hemolytic anemia due to diphosphoglycerate mutase deficiency' SubClassOf 'familial hemolytic anemia' http://www.orpha.net/ORDO/Orphanet_713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency 'Glycogen storage disease due to phosphoglycerate kinase 1 deficiency' SubClassOf 'Muscular glycogenosis' 'Glycogen storage disease due to phosphoglycerate kinase 1 deficiency' SubClassOf 'anemia due to erythrocyte enzyme disorder' 'Glycogen storage disease due to phosphoglycerate kinase 1 deficiency' SubClassOf 'Glycogen storage disease' 'Glycogen storage disease due to phosphoglycerate kinase 1 deficiency' SubClassOf 'familial hemolytic anemia' 'Glycogen storage disease due to phosphoglycerate kinase 1 deficiency' SubClassOf 'Muscular glycogenosis' 'Glycogen storage disease due to phosphoglycerate kinase 1 deficiency' SubClassOf 'Glycogen storage disease' http://www.orpha.net/ORDO/Orphanet_734 Alpha delta granule deficiency 'Alpha delta granule deficiency' SubClassOf 'Platelet storage pool disease' 'Alpha delta granule deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_733 Familial adenomatous polyposis 'Familial adenomatous polyposis' SubClassOf 'classic or attenuated familial adenomatous polyposis' 'Familial adenomatous polyposis' SubClassOf 'Genetic digestive tract tumor' http://www.orpha.net/ORDO/Orphanet_2980 Acro-oto-ocular syndrome 'Acro-oto-ocular syndrome' SubClassOf 'Eyelids malposition disorder' http://www.orpha.net/ORDO/Orphanet_731 Autosomal recessive polycystic kidney disease 'Autosomal recessive polycystic kidney disease' SubClassOf 'autosomal recessive disease' 'Autosomal recessive polycystic kidney disease' SubClassOf 'male infertility' 'Autosomal recessive polycystic kidney disease' SubClassOf 'polycystic kidney disease' 'Autosomal recessive polycystic kidney disease' SubClassOf 'Familial cystic renal disease' 'Autosomal recessive polycystic kidney disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019741 http://www.orpha.net/ORDO/Orphanet_2989 Pterygium of the conjunctiva, familial form 'Pterygium of the conjunctiva, familial form' SubClassOf 'benign neoplasm of cornea' 'Pterygium of the conjunctiva, familial form' EquivalentTo 'pterygium' and ('has modifier' some 'inherited') 'Pterygium of the conjunctiva, familial form' SubClassOf 'Benign Conjunctival Neoplasm' 'Pterygium of the conjunctiva, familial form' SubClassOf 'Conjunctival tumor' http://www.orpha.net/ORDO/Orphanet_2988 Pterygium colli - intellectual disability - digital anomalies 'Pterygium colli - intellectual disability - digital anomalies' SubClassOf 'syndromic intellectual disability' 'Pterygium colli - intellectual disability - digital anomalies' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Pterygium colli - intellectual disability - digital anomalies' SubClassOf 'congenital nervous system disorder' 'Pterygium colli - intellectual disability - digital anomalies' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_2987 Antecubital pterygium syndrome 'Antecubital pterygium syndrome' SubClassOf 'genetic skin disease' 'Antecubital pterygium syndrome' SubClassOf 'dermis disorder' 'Antecubital pterygium syndrome' SubClassOf 'Genetic dermis disorder' 'Antecubital pterygium syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019276 http://www.orpha.net/ORDO/Orphanet_2985 Pseudoprogeria syndrome 'Pseudoprogeria syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Pseudoprogeria syndrome' SubClassOf 'progeroid syndrome' 'Pseudoprogeria syndrome' SubClassOf 'Genetic progeroid syndrome' 'Pseudoprogeria syndrome' SubClassOf 'syndromic intellectual disability' 'Pseudoprogeria syndrome' SubClassOf 'congenital nervous system disorder' 'Pseudoprogeria syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Pseudoprogeria syndrome' SubClassOf 'progeroid syndrome' http://www.orpha.net/ORDO/Orphanet_2983 Disorder of sex development - intellectual disability 'Disorder of sex development - intellectual disability' SubClassOf 'has modifier' some 'rare' 'Disorder of sex development - intellectual disability' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_217607 Familial dilated cardiomyopathy 'Familial dilated cardiomyopathy' EquivalentTo 'dilated cardiomyopathy' and ('has modifier' some 'inherited') 'Familial dilated cardiomyopathy' SubClassOf 'dilated cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_726 Alpers syndrome 'Alpers syndrome' SubClassOf 'metabolic epilepsy' 'Alpers syndrome' SubClassOf 'Genetic neurodegenerative disease' 'Alpers syndrome' SubClassOf 'syndromic disease' 'Alpers syndrome' SubClassOf 'Neurometabolic disease' 'Alpers syndrome' SubClassOf 'Mitochondrial DNA depletion syndrome, hepatocerebral form' 'Alpers syndrome' SubClassOf 'brain disease' 'Alpers syndrome' SubClassOf 'Genetic neurodegenerative disease' 'Alpers syndrome' SubClassOf 'Neurometabolic disease' 'Alpers syndrome' SubClassOf 'Mitochondrial DNA depletion syndrome' http://www.orpha.net/ORDO/Orphanet_725 Continuous spikes and waves during sleep 'Continuous spikes and waves during sleep' SubClassOf 'Landau-Kleffner syndrome' 'Continuous spikes and waves during sleep' SubClassOf 'Childhood-onset epilepsy syndrome' http://www.orpha.net/ORDO/Orphanet_93449 Primary osteolysis 'Primary osteolysis' SubClassOf 'Primary bone dysplasia' 'Primary osteolysis' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_93443 Neonatal osteosclerotic dysplasia 'Neonatal osteosclerotic dysplasia' SubClassOf 'Primary bone dysplasia' 'Neonatal osteosclerotic dysplasia' SubClassOf 'osteochondrodysplasia' http://www.orpha.net/ORDO/Orphanet_276399 Familial multinodular goiter 'Familial multinodular goiter' SubClassOf 'multinodular goiter' 'Familial multinodular goiter' SubClassOf 'Inherited cancer-predisposing syndrome' 'Familial multinodular goiter' SubClassOf 'Inherited cancer-predisposing syndrome' http://www.orpha.net/ORDO/Orphanet_93458 Non-syndromic polydactyly, syndactyly and/or hyperphalangy 'Non-syndromic polydactyly, syndactyly and/or hyperphalangy' SubClassOf 'Non-syndromic limb malformation' 'Non-syndromic polydactyly, syndactyly and/or hyperphalangy' SubClassOf 'Dysostosis of genetic origin' 'Non-syndromic polydactyly, syndactyly and/or hyperphalangy' SubClassOf 'Non-syndromic limb malformation' http://www.orpha.net/ORDO/Orphanet_93457 Non-syndromic limb reduction defect 'Non-syndromic limb reduction defect' SubClassOf 'Non-syndromic limb malformation' 'Non-syndromic limb reduction defect' SubClassOf 'Dysostosis of genetic origin' 'Non-syndromic limb reduction defect' SubClassOf 'Non-syndromic limb malformation' http://www.orpha.net/ORDO/Orphanet_93455 Patellar dysostosis 'Patellar dysostosis' SubClassOf 'Dysostosis of genetic origin' 'Patellar dysostosis' SubClassOf 'Dysostosis of genetic origin' http://www.orpha.net/ORDO/Orphanet_93460 Overgrowth syndrome 'Overgrowth syndrome' SubClassOf 'Genetic overgrowth/obesity syndrome' 'Overgrowth syndrome' SubClassOf 'has modifier' some 'rare' 'Overgrowth syndrome' SubClassOf 'Genetic overgrowth/obesity syndrome' http://www.orpha.net/ORDO/Orphanet_93465 Lethal chondrodysplasia 'Lethal chondrodysplasia' SubClassOf 'Primary bone dysplasia' 'Lethal chondrodysplasia' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_93474 Scheie syndrome 'Scheie syndrome' DisjointWith 'Hurler-Scheie syndrome' 'Scheie syndrome' SubClassOf 'syndromic disease' 'Scheie syndrome' SubClassOf 'Mucopolysaccharidosis type 1' 'Scheie syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93473 Hurler syndrome 'Hurler syndrome' SubClassOf 'Lysosomal disease with hypertrophic cardiomyopathy' 'Hurler syndrome' DisjointWith 'Hurler-Scheie syndrome' 'Hurler syndrome' SubClassOf 'Lysosomal disease with restrictive cardiomyopathy' 'Hurler syndrome' SubClassOf 'syndromic disease' 'Hurler syndrome' SubClassOf 'Mucopolysaccharidosis type 1' 'Hurler syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93476 Hurler-Scheie syndrome 'Hurler syndrome' DisjointWith 'Hurler-Scheie syndrome' 'Hurler-Scheie syndrome' SubClassOf 'Mucopolysaccharidosis type 1' 'Scheie syndrome' DisjointWith 'Hurler-Scheie syndrome' 'Hurler-Scheie syndrome' SubClassOf 'Lysosomal disease with hypertrophic cardiomyopathy' 'Hurler-Scheie syndrome' SubClassOf 'syndromic disease' 'Hurler-Scheie syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93406 Syndactyly type 5 'Syndactyly type 5' SubClassOf 'Syndactyly' 'Syndactyly type 5' SubClassOf 'Syndactyly' http://www.orpha.net/ORDO/Orphanet_93405 Syndactyly type 4 'Syndactyly type 4' SubClassOf 'Syndactyly' 'Syndactyly type 4' SubClassOf 'Syndactyly' http://www.orpha.net/ORDO/Orphanet_93404 Syndactyly type 3 'Syndactyly type 3' SubClassOf 'Syndactyly' 'Syndactyly type 3' SubClassOf 'Syndactyly' http://www.orpha.net/ORDO/Orphanet_93403 Syndactyly type 2 'Syndactyly type 2' SubClassOf 'Syndactyly' 'Syndactyly type 2' SubClassOf 'synpolydactyly' 'Syndactyly type 2' SubClassOf 'Syndactyly' http://www.orpha.net/ORDO/Orphanet_93402 Syndactyly type 1 'Syndactyly type 1' SubClassOf 'Partial duplication of the long arm of chromosome 2' 'Syndactyly type 1' SubClassOf 'Syndactyly' 'Syndactyly type 1' SubClassOf 'Syndactyly' http://www.orpha.net/ORDO/Orphanet_93400 congenital sialidosis type II 'congenital sialidosis type II' SubClassOf 'sialidosis type II' 'congenital sialidosis type II' SubClassOf 'sialidosis type II' http://www.orpha.net/ORDO/Orphanet_93409 Brachydactyly-syndactyly, Zhao type 'Brachydactyly-syndactyly, Zhao type' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Brachydactyly-syndactyly, Zhao type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93420 FGFR3-related chondrodysplasia 'FGFR3-related chondrodysplasia' SubClassOf 'Rare bone disease related to a common gene or pathway defect' 'FGFR3-related chondrodysplasia' SubClassOf 'bone disease' 'FGFR3-related chondrodysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93426 Short rib dysplasia 'Short rib dysplasia' SubClassOf 'Primary bone dysplasia' 'Short rib dysplasia' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_93425 Filamin-related bone disorder 'Filamin-related bone disorder' SubClassOf 'bone disease' http://www.orpha.net/ORDO/Orphanet_93424 Perlecan-related bone disorder 'Perlecan-related bone disorder' SubClassOf 'bone disease' http://www.orpha.net/ORDO/Orphanet_93423 Sulfation-related bone disorder 'Sulfation-related bone disorder' SubClassOf 'bone disease' http://www.orpha.net/ORDO/Orphanet_93429 Multiple epiphyseal dysplasia and pseudoachondroplasia 'Multiple epiphyseal dysplasia and pseudoachondroplasia' SubClassOf 'Primary bone dysplasia' 'Multiple epiphyseal dysplasia and pseudoachondroplasia' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_93430 Multiple metaphyseal dysplasia 'Multiple metaphyseal dysplasia' SubClassOf 'Primary bone dysplasia' 'Multiple metaphyseal dysplasia' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_93439 Bent bone dysplasia 'Bent bone dysplasia' SubClassOf 'Primary bone dysplasia' 'Bent bone dysplasia' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_93438 Mesomelic and rhizo-mesomelic dysplasia 'Mesomelic and rhizo-mesomelic dysplasia' SubClassOf 'Primary bone dysplasia' 'Mesomelic and rhizo-mesomelic dysplasia' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_93437 Acromesomelic dysplasia 'Acromesomelic dysplasia' SubClassOf 'Primary bone dysplasia' 'Acromesomelic dysplasia' SubClassOf 'osteochondrodysplasia' 'Acromesomelic dysplasia' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_93436 Acromelic dysplasia 'Acromelic dysplasia' SubClassOf 'Primary bone dysplasia' 'Acromelic dysplasia' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_93434 Spondylodysplastic dysplasia 'Spondylodysplastic dysplasia' SubClassOf 'Primary bone dysplasia' 'Spondylodysplastic dysplasia' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_93442 Chondrodysplasia punctata 'Chondrodysplasia punctata' SubClassOf 'Primary bone dysplasia' 'Chondrodysplasia punctata' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_93440 Slender bone dysplasia 'Slender bone dysplasia' SubClassOf 'Primary bone dysplasia' 'Slender bone dysplasia' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_240371 Syndromic obesity 'Syndromic obesity' SubClassOf 'Genetic obesity' 'Syndromic obesity' SubClassOf 'Genetic overgrowth/obesity syndrome' 'Syndromic obesity' SubClassOf 'syndromic disease' 'Syndromic obesity' EquivalentTo 'Genetic obesity' and ('has modifier' some 'has a syndromic presentation') 'Syndromic obesity' SubClassOf 'Genetic obesity' http://www.orpha.net/ORDO/Orphanet_325448 Leydig cell hypoplasia due to LHB deficiency 'Leydig cell hypoplasia due to LHB deficiency' SubClassOf 'hypogonadotropic hypogonadism' 'Leydig cell hypoplasia due to LHB deficiency' SubClassOf 'Leydig cell hypoplasia' 'Leydig cell hypoplasia due to LHB deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019155 http://purl.obolibrary.org/obo/MONDO_0019460 acute leukemia of ambiguous lineage 'acute leukemia of ambiguous lineage' SubClassOf 'acute myeloid leukemia' 'acute leukemia of ambiguous lineage' SubClassOf 'Inherited acute myeloid leukemia' 'acute leukemia of ambiguous lineage' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017893 'acute leukemia of ambiguous lineage' SubClassOf 'acute myeloid leukemia' http://www.orpha.net/ORDO/Orphanet_254930 Combined oxidative phosphorylation defect type 7 'Combined oxidative phosphorylation defect type 7' SubClassOf 'c12orf65-related combined oxidative phosphorylation defect' 'Combined oxidative phosphorylation defect type 7' SubClassOf 'combined oxidative phosphorylation deficiency' http://www.orpha.net/ORDO/Orphanet_254925 Combined oxidative phosphorylation defect type 4 'Combined oxidative phosphorylation defect type 4' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0019457 therapy related acute myeloid leukemia and myelodysplastic syndrome 'therapy related acute myeloid leukemia and myelodysplastic syndrome' SubClassOf 'Inherited acute myeloid leukemia' 'therapy related acute myeloid leukemia and myelodysplastic syndrome' SubClassOf 'acute myeloid leukemia' 'therapy related acute myeloid leukemia and myelodysplastic syndrome' SubClassOf 'acute myeloid leukemia' 'therapy related acute myeloid leukemia and myelodysplastic syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017893 http://www.orpha.net/ORDO/Orphanet_254902 Renal tubulopathy - encephalopathy - liver failure 'Renal tubulopathy - encephalopathy - liver failure' SubClassOf 'mitochondrial complex III deficiency nuclear type 1' http://purl.obolibrary.org/obo/MONDO_0019473 enteropathy-associated T-cell lymphoma 'enteropathy-associated T-cell lymphoma' SubClassOf 'T-cell non-Hodgkin lymphoma' 'enteropathy-associated T-cell lymphoma' SubClassOf 'T-cell non-Hodgkin lymphoma' http://purl.obolibrary.org/obo/MONDO_0019474 hepatosplenic T-cell lymphoma 'hepatosplenic T-cell lymphoma' SubClassOf 'T-cell non-Hodgkin lymphoma' 'hepatosplenic T-cell lymphoma' SubClassOf 'T-cell non-Hodgkin lymphoma' http://www.orpha.net/ORDO/Orphanet_254905 Isolated cytochrome C oxidase deficiency 'Isolated cytochrome C oxidase deficiency' SubClassOf 'Isolated oxidative phosphorylation complex disorder' 'Isolated cytochrome C oxidase deficiency' SubClassOf 'mitochondrial complex deficiency' 'Isolated cytochrome C oxidase deficiency' SubClassOf 'Isolated oxidative phosphorylation complex disorder' http://www.orpha.net/ORDO/Orphanet_254920 Combined oxidative phosphorylation defect type 2 'Combined oxidative phosphorylation defect type 2' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0020460 acquired von willebrand syndrome 'acquired von willebrand syndrome' SubClassOf 'disease shares features of' some 'Von Willebrand disease' 'acquired von willebrand syndrome' SubClassOf 'disease shares features of' some http://purl.obolibrary.org/obo/MONDO_0019565 http://purl.obolibrary.org/obo/MONDO_0019487 epilepsy with myoclonic absences 'epilepsy with myoclonic absences' SubClassOf 'Childhood-onset epilepsy syndrome' 'epilepsy with myoclonic absences' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020072 http://www.orpha.net/ORDO/Orphanet_254913 Isolated ATP synthase deficiency 'Isolated ATP synthase deficiency' SubClassOf 'combined oxidative phosphorylation deficiency' http://www.orpha.net/ORDO/Orphanet_168572 Native American myopathy 'Native American myopathy' SubClassOf 'congenital nervous system disorder' 'Native American myopathy' SubClassOf 'Orofacial clefting syndrome' 'Native American myopathy' SubClassOf 'Congenital myopathy' 'Native American myopathy' SubClassOf 'Orofacial clefting syndrome' 'Native American myopathy' SubClassOf 'Congenital myopathy' http://www.orpha.net/ORDO/Orphanet_168577 Hereditary cryohydrocytosis with reduced stomatin 'Hereditary cryohydrocytosis with reduced stomatin' SubClassOf 'Hereditary stomatocytosis' 'Hereditary cryohydrocytosis with reduced stomatin' SubClassOf 'syndromic intellectual disability' 'Hereditary cryohydrocytosis with reduced stomatin' SubClassOf 'familial hemolytic anemia' 'Hereditary cryohydrocytosis with reduced stomatin' SubClassOf 'Hereditary stomatocytosis' http://www.orpha.net/ORDO/Orphanet_168563 46,XY gonadal dysgenesis - motor and sensory neuropathy '46,XY gonadal dysgenesis - motor and sensory neuropathy' SubClassOf '46,XY complete gonadal dysgenesis' http://www.orpha.net/ORDO/Orphanet_168569 H syndrome 'H syndrome' SubClassOf 'type 1 diabetes mellitus' 'H syndrome' SubClassOf 'sinus histiocytosis with massive lymphadenopathy' 'H syndrome' SubClassOf 'Developmental anomaly of metabolic origin' 'H syndrome' SubClassOf 'laryngeal disease' 'H syndrome' SubClassOf 'Genetic hyperpigmentation of the skin' 'H syndrome' SubClassOf 'Syndromic genetic deafness' 'H syndrome' SubClassOf 'autoimmune disorder of the nervous system' 'H syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_168566 Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 'Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3' SubClassOf 'combined oxidative phosphorylation deficiency' http://www.orpha.net/ORDO/Orphanet_168593 Sudden infant death - dysgenesis of the testes 'Sudden infant death - dysgenesis of the testes' SubClassOf 'has modifier' some 'rare' 'Sudden infant death - dysgenesis of the testes' SubClassOf 'respiratory system disease' http://www.orpha.net/ORDO/Orphanet_168598 Brain demyelination due to methionine adenosyltransferase deficiency 'Brain demyelination due to methionine adenosyltransferase deficiency' SubClassOf 'Neurometabolic disease' 'Brain demyelination due to methionine adenosyltransferase deficiency' SubClassOf 'Disorder of methionine cycle and sulfur amino acid metabolism' 'Brain demyelination due to methionine adenosyltransferase deficiency' SubClassOf 'Cerebral organic aciduria' 'Brain demyelination due to methionine adenosyltransferase deficiency' SubClassOf 'Neurometabolic disease' 'Brain demyelination due to methionine adenosyltransferase deficiency' SubClassOf 'Disorder of methionine cycle and sulfur amino acid metabolism' http://www.orpha.net/ORDO/Orphanet_168583 Hereditary North American Indian childhood cirrhosis 'Hereditary North American Indian childhood cirrhosis' SubClassOf 'Progressive familial intrahepatic cholestasis' http://www.orpha.net/ORDO/Orphanet_168588 Hyperandrogenism due to cortisone reductase deficiency 'Hyperandrogenism due to cortisone reductase deficiency' SubClassOf 'Anomaly of puberty or/and menstrual cycle of genetic origin' 'Hyperandrogenism due to cortisone reductase deficiency' SubClassOf 'Disorder of lipid metabolism' 'Hyperandrogenism due to cortisone reductase deficiency' SubClassOf 'Adrenogenital syndrome' 'Hyperandrogenism due to cortisone reductase deficiency' SubClassOf 'Anomaly of puberty or/and menstrual cycle of genetic origin' 'Hyperandrogenism due to cortisone reductase deficiency' SubClassOf 'Adrenogenital syndrome' http://purl.obolibrary.org/obo/MONDO_0032485 intellectual developmental disorder 61 'intellectual developmental disorder 61' SubClassOf 'Autosomal dominant non-syndromic intellectual disability' 'intellectual developmental disorder 61' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015802 http://www.orpha.net/ORDO/Orphanet_168552 Spondylometaphyseal dysplasia - bowed forearms - facial dysmorphism 'Spondylometaphyseal dysplasia - bowed forearms - facial dysmorphism' SubClassOf 'Spondylometaphyseal dysplasia' 'Spondylometaphyseal dysplasia - bowed forearms - facial dysmorphism' SubClassOf 'Spondylometaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_168558 46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency '46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency' SubClassOf 'has modifier' some 'rare' '46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency' SubClassOf 'adrenal gland disease' http://www.orpha.net/ORDO/Orphanet_168555 Spondylometaphyseal dysplasia, A4 type 'Spondylometaphyseal dysplasia, A4 type' SubClassOf 'Spondylometaphyseal dysplasia' 'Spondylometaphyseal dysplasia, A4 type' SubClassOf 'Spondylometaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_168549 Axial spondylometaphyseal dysplasia 'Axial spondylometaphyseal dysplasia' SubClassOf 'Spondylometaphyseal dysplasia' 'Axial spondylometaphyseal dysplasia' SubClassOf 'Spondylometaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_168544 Spondylometaphyseal dysplasia, Golden type 'Spondylometaphyseal dysplasia, Golden type' SubClassOf 'Spondylometaphyseal dysplasia' 'Spondylometaphyseal dysplasia, Golden type' SubClassOf 'Spondylometaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_447896 tremor - ataxia - central hypomyelination syndrome 'tremor - ataxia - central hypomyelination syndrome' SubClassOf 'Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism' 'tremor - ataxia - central hypomyelination syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93329 Autosomal recessive omodysplasia 'Autosomal recessive omodysplasia' SubClassOf 'autosomal recessive disease' 'Autosomal recessive omodysplasia' SubClassOf 'Omodysplasia' 'Autosomal recessive omodysplasia' SubClassOf 'Omodysplasia' http://www.orpha.net/ORDO/Orphanet_93328 Autosomal dominant omodysplasia 'Autosomal dominant omodysplasia' SubClassOf 'autosomal dominant disease' 'Autosomal dominant omodysplasia' SubClassOf 'Omodysplasia' 'Autosomal dominant omodysplasia' SubClassOf 'Omodysplasia' http://www.orpha.net/ORDO/Orphanet_93325 Autosomal dominant Kenny-Caffey syndrome 'Autosomal dominant Kenny-Caffey syndrome' SubClassOf 'autosomal dominant disease' 'Autosomal dominant Kenny-Caffey syndrome' SubClassOf 'Kenny-Caffey syndrome' 'Autosomal dominant Kenny-Caffey syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016516 http://www.orpha.net/ORDO/Orphanet_93324 Autosomal recessive Kenny-Caffey syndrome 'Autosomal recessive Kenny-Caffey syndrome' SubClassOf 'Kenny-Caffey syndrome' 'Autosomal recessive Kenny-Caffey syndrome' SubClassOf 'autosomal recessive disease' 'Autosomal recessive Kenny-Caffey syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016516 http://www.orpha.net/ORDO/Orphanet_68367 Inborn errors of metabolism 'Inborn errors of metabolism' SubClassOf 'genetic disorder' 'Inborn errors of metabolism' SubClassOf 'metabolic disease' 'Inborn errors of metabolism' EquivalentTo 'metabolic disease' and ('has modifier' some 'inherited') 'Inborn errors of metabolism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019052 http://www.orpha.net/ORDO/Orphanet_93323 Fibular hemimelia 'Fibular hemimelia' SubClassOf 'Hemimelia' 'Fibular hemimelia' SubClassOf 'Hemimelia' http://www.orpha.net/ORDO/Orphanet_93322 Tibial hemimelia 'Tibial hemimelia' SubClassOf 'Hemimelia' 'Tibial hemimelia' SubClassOf 'Hemimelia' http://www.orpha.net/ORDO/Orphanet_68366 Lysosomal disease 'Lysosomal disease' SubClassOf 'Inborn errors of metabolism' 'Lysosomal disease' SubClassOf 'Inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_276280 Hemihyperplasia-multiple lipomatosis syndrome 'Hemihyperplasia-multiple lipomatosis syndrome' SubClassOf 'Overgrowth syndrome' 'Hemihyperplasia-multiple lipomatosis syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_68364 Hemoglobinopathy 'Hemoglobinopathy' SubClassOf 'disease has feature' some 'anemia' 'Hemoglobinopathy' SubClassOf 'erythrocyte disorder' http://www.orpha.net/ORDO/Orphanet_325546 Sex chromosome disorder of sex development 'Sex chromosome disorder of sex development' SubClassOf 'Genetic disorder of sex development' 'Sex chromosome disorder of sex development' SubClassOf 'has modifier' some 'rare' 'Sex chromosome disorder of sex development' SubClassOf 'Genetic disorder of sex development' http://www.orpha.net/ORDO/Orphanet_93339 Polydactyly of a biphalangeal thumb 'Polydactyly of a biphalangeal thumb' SubClassOf 'Preaxial polydactyly of fingers' 'Polydactyly of a biphalangeal thumb' SubClassOf 'Preaxial polydactyly of fingers' http://www.orpha.net/ORDO/Orphanet_93338 Polysyndactyly 'Polysyndactyly' SubClassOf 'Preaxial polydactyly of fingers' 'Polysyndactyly' SubClassOf 'Developmental anomaly of metabolic origin' 'Polysyndactyly' SubClassOf 'non-syndromic synpolydactyly' 'Polysyndactyly' SubClassOf 'Preaxial polydactyly of fingers' http://www.orpha.net/ORDO/Orphanet_93337 Polydactyly of an index finger 'Polydactyly of an index finger' SubClassOf 'Preaxial polydactyly of fingers' 'Polydactyly of an index finger' SubClassOf 'Preaxial polydactyly of fingers' http://www.orpha.net/ORDO/Orphanet_93336 Polydactyly of a triphalangeal thumb 'Polydactyly of a triphalangeal thumb' SubClassOf 'Preaxial polydactyly of fingers' 'Polydactyly of a triphalangeal thumb' SubClassOf 'Preaxial polydactyly of fingers' http://www.orpha.net/ORDO/Orphanet_93335 Postaxial polydactyly type B 'Postaxial polydactyly type B' SubClassOf 'postaxial polydactyly' http://www.orpha.net/ORDO/Orphanet_93334 Postaxial polydactyly type A 'Postaxial polydactyly type A' SubClassOf 'postaxial polydactyly' http://www.orpha.net/ORDO/Orphanet_93333 Pelviscapular dysplasia 'Pelviscapular dysplasia' SubClassOf 'Dysostosis of genetic origin' 'Pelviscapular dysplasia' SubClassOf 'congenital limb malformation' http://www.orpha.net/ORDO/Orphanet_68373 Peroxisomal disease 'Peroxisomal disease' SubClassOf 'metabolic epilepsy' 'Peroxisomal disease' SubClassOf 'Rare genetic neurological disorder' 'Peroxisomal disease' SubClassOf 'Inborn errors of metabolism' 'Peroxisomal disease' SubClassOf 'Inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_276267 Xeroderma pigmentosum complementation group G 'Xeroderma pigmentosum complementation group G' SubClassOf 'COFS syndrome' 'Xeroderma pigmentosum complementation group G' SubClassOf 'Xeroderma pigmentosum' 'Xeroderma pigmentosum complementation group G' SubClassOf 'Xeroderma pigmentosum-Cockayne syndrome complex' 'Xeroderma pigmentosum complementation group G' SubClassOf 'Xeroderma pigmentosum' 'Xeroderma pigmentosum complementation group G' SubClassOf 'Xeroderma pigmentosum-Cockayne syndrome complex' http://www.orpha.net/ORDO/Orphanet_93349 X-linked spondyloepimetaphyseal dysplasia 'X-linked spondyloepimetaphyseal dysplasia' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'X-linked spondyloepimetaphyseal dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93347 Anauxetic dysplasia 'Anauxetic dysplasia' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Anauxetic dysplasia' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type 'Spondyloepimetaphyseal dysplasia congenita, Strudwick type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepimetaphyseal dysplasia congenita, Strudwick type' SubClassOf 'Spondylometaphyseal dysplasia' 'Spondyloepimetaphyseal dysplasia congenita, Strudwick type' SubClassOf 'type 2 collagenopathy' 'Spondyloepimetaphyseal dysplasia congenita, Strudwick type' SubClassOf 'disease has feature' some 'scoliosis' 'Spondyloepimetaphyseal dysplasia congenita, Strudwick type' SubClassOf 'hereditary disorder of connective tissue' 'Spondyloepimetaphyseal dysplasia congenita, Strudwick type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_276261 Xeroderma pigmentosum complementation group E 'Xeroderma pigmentosum complementation group E' SubClassOf 'Xeroderma pigmentosum' 'Xeroderma pigmentosum complementation group E' SubClassOf 'Xeroderma pigmentosum' http://www.orpha.net/ORDO/Orphanet_276264 Xeroderma pigmentosum complementation group F 'Xeroderma pigmentosum complementation group F' SubClassOf 'Xeroderma pigmentosum' 'Xeroderma pigmentosum complementation group F' SubClassOf 'Xeroderma pigmentosum-Cockayne syndrome complex' 'Xeroderma pigmentosum complementation group F' SubClassOf 'Xeroderma pigmentosum' 'Xeroderma pigmentosum complementation group F' SubClassOf 'Xeroderma pigmentosum-Cockayne syndrome complex' http://www.orpha.net/ORDO/Orphanet_93352 Spondyloepimetaphyseal dysplasia, Shohat type 'Spondyloepimetaphyseal dysplasia, Shohat type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepimetaphyseal dysplasia, Shohat type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_325529 Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency 'Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'has modifier' some 'congenital' 'Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'male infertility' 'Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'Congenital lipoid adrenal hyperplasia due to STAR deficency' 'Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'Congenital lipoid adrenal hyperplasia due to STAR deficency' http://www.orpha.net/ORDO/Orphanet_93351 Spondyloepimetaphyseal dysplasia, Irapa type 'Spondyloepimetaphyseal dysplasia, Irapa type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepimetaphyseal dysplasia, Irapa type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_325524 Classic congenital lipoid adrenal hyperplasia due to STAR deficency 'Classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'has modifier' some 'congenital' 'Classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'Congenital lipoid adrenal hyperplasia due to STAR deficency' 'Classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'Congenital lipoid adrenal hyperplasia due to STAR deficency' http://www.orpha.net/ORDO/Orphanet_276255 Xeroderma pigmentosum complementation group C 'Xeroderma pigmentosum complementation group C' SubClassOf 'Xeroderma pigmentosum' 'Xeroderma pigmentosum complementation group C' SubClassOf 'Xeroderma pigmentosum' http://www.orpha.net/ORDO/Orphanet_93359 Spondyloepimetaphyseal dysplasia with joint laxity 'Spondyloepimetaphyseal dysplasia with joint laxity' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepimetaphyseal dysplasia with joint laxity' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_276258 Xeroderma pigmentosum complementation group D 'Xeroderma pigmentosum complementation group D' SubClassOf 'Xeroderma pigmentosum-Cockayne syndrome complex' 'Xeroderma pigmentosum complementation group D' SubClassOf 'Xeroderma pigmentosum' 'Xeroderma pigmentosum complementation group D' SubClassOf 'Xeroderma pigmentosum-Cockayne syndrome complex' 'Xeroderma pigmentosum complementation group D' SubClassOf 'Xeroderma pigmentosum' http://www.orpha.net/ORDO/Orphanet_93358 Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification 'Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_93357 SPONASTRIME dysplasia 'SPONASTRIME dysplasia' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'SPONASTRIME dysplasia' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_68356 Leukodystrophy 'Leukodystrophy' SubClassOf 'Genetic neurodegenerative disease' 'Leukodystrophy' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_93356 Spondyloepimetaphyseal dysplasia, Missouri type 'Spondyloepimetaphyseal dysplasia, Missouri type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepimetaphyseal dysplasia, Missouri type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_276252 Xeroderma pigmentosum complementation group B 'Xeroderma pigmentosum complementation group B' SubClassOf 'Xeroderma pigmentosum' 'Xeroderma pigmentosum complementation group B' SubClassOf 'Xeroderma pigmentosum-Cockayne syndrome complex' 'Xeroderma pigmentosum complementation group B' SubClassOf 'Xeroderma pigmentosum' 'Xeroderma pigmentosum complementation group B' SubClassOf 'Xeroderma pigmentosum-Cockayne syndrome complex' http://www.orpha.net/ORDO/Orphanet_93365 CINCA syndrome with NLRP3 mutations 'CINCA syndrome with NLRP3 mutations' SubClassOf 'CINCA syndrome' 'CINCA syndrome with NLRP3 mutations' SubClassOf http://purl.obolibrary.org/obo/MONDO_0011776 http://www.orpha.net/ORDO/Orphanet_93360 Spondyloepimetaphyseal dysplasia with multiple dislocations 'Spondyloepimetaphyseal dysplasia with multiple dislocations' SubClassOf 'autosomal dominant disease' 'Spondyloepimetaphyseal dysplasia with multiple dislocations' SubClassOf 'Spondyloepimetaphyseal dysplasia with joint laxity' 'Spondyloepimetaphyseal dysplasia with multiple dislocations' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_93307 Multiple epiphyseal dysplasia type 4 'Multiple epiphyseal dysplasia type 4' SubClassOf 'Sulfation-related bone disorder' 'Multiple epiphyseal dysplasia type 4' SubClassOf 'Multiple epiphyseal dysplasia' 'Multiple epiphyseal dysplasia type 4' SubClassOf 'Sulfation-related bone disorder' 'Multiple epiphyseal dysplasia type 4' SubClassOf 'Multiple epiphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_93304 Autosomal dominant brachyolmia 'Autosomal dominant brachyolmia' SubClassOf 'Brachyolmia' 'Autosomal dominant brachyolmia' SubClassOf 'autosomal dominant disease' 'Autosomal dominant brachyolmia' SubClassOf 'TRPV4-related bone disorder' 'Autosomal dominant brachyolmia' SubClassOf 'Brachyolmia' 'Autosomal dominant brachyolmia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018240 http://www.orpha.net/ORDO/Orphanet_93303 Brachyolmia type 1, Toledo type 'Brachyolmia type 1, Toledo type' SubClassOf 'Sulfation-related bone disorder' 'Brachyolmia type 1, Toledo type' SubClassOf 'Brachyolmia' 'Brachyolmia type 1, Toledo type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93302 Brachyolmia, Maroteaux type 'Brachyolmia, Maroteaux type' SubClassOf 'Brachyolmia' 'Brachyolmia, Maroteaux type' SubClassOf 'Brachyolmia' http://www.orpha.net/ORDO/Orphanet_93301 Brachyolmia type 1, Hobaek type 'Brachyolmia type 1, Hobaek type' SubClassOf 'Brachyolmia' 'Brachyolmia type 1, Hobaek type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_68385 Neurometabolic disease 'Neurometabolic disease' SubClassOf 'disease has feature' some 'metabolic disease' 'Neurometabolic disease' SubClassOf 'brain disease' 'Neurometabolic disease' SubClassOf 'Rare genetic neurological disorder' 'Neurometabolic disease' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_68383 Rare constitutional medullar aplasia 'Rare constitutional medullar aplasia' SubClassOf 'Medullar aplasia' 'Rare constitutional medullar aplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015909 http://www.orpha.net/ORDO/Orphanet_93308 Multiple epiphyseal dysplasia type 1 'Multiple epiphyseal dysplasia type 1' SubClassOf 'Multiple epiphyseal dysplasia' 'Multiple epiphyseal dysplasia type 1' SubClassOf 'Multiple epiphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_93317 Spondylometaphyseal dysplasia, Sedaghatian type 'Spondylometaphyseal dysplasia, Sedaghatian type' SubClassOf 'Spondylometaphyseal dysplasia' 'Spondylometaphyseal dysplasia, Sedaghatian type' SubClassOf 'Spondylodysplastic dysplasia' 'Spondylometaphyseal dysplasia, Sedaghatian type' SubClassOf 'Spondylodysplastic dysplasia' http://www.orpha.net/ORDO/Orphanet_93316 Spondylometaphyseal dysplasia, Schmidt type 'Spondylometaphyseal dysplasia, Schmidt type' SubClassOf 'type 2 collagenopathy' 'Spondylometaphyseal dysplasia, Schmidt type' SubClassOf 'hereditary disorder of connective tissue' 'Spondylometaphyseal dysplasia, Schmidt type' SubClassOf 'Spondylometaphyseal dysplasia' 'Spondylometaphyseal dysplasia, Schmidt type' SubClassOf 'Spondylometaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_93315 Spondylometaphyseal dysplasia, 'corner fracture' type 'Spondylometaphyseal dysplasia, 'corner fracture' type' SubClassOf 'Spondylometaphyseal dysplasia' 'Spondylometaphyseal dysplasia, 'corner fracture' type' SubClassOf 'Spondylometaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_93314 Spondylometaphyseal dysplasia, Kozlowski type 'Spondylometaphyseal dysplasia, Kozlowski type' SubClassOf 'TRPV4-related bone disorder' 'Spondylometaphyseal dysplasia, Kozlowski type' SubClassOf 'Spondylometaphyseal dysplasia' 'Spondylometaphyseal dysplasia, Kozlowski type' SubClassOf 'Spondylometaphyseal dysplasia' 'Spondylometaphyseal dysplasia, Kozlowski type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018240 http://www.orpha.net/ORDO/Orphanet_93311 Multiple epiphyseal dysplasia type 5 'Multiple epiphyseal dysplasia type 5' SubClassOf 'Multiple epiphyseal dysplasia' 'Multiple epiphyseal dysplasia type 5' SubClassOf 'Multiple epiphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_93321 Radial hemimelia 'Radial hemimelia' SubClassOf 'Hemimelia' 'Radial hemimelia' SubClassOf 'Hemimelia' http://www.orpha.net/ORDO/Orphanet_93320 Ulnar hemimelia 'Ulnar hemimelia' SubClassOf 'Hemimelia' 'Ulnar hemimelia' SubClassOf 'Hemimelia' http://www.orpha.net/ORDO/Orphanet_254898 Deafness - encephaloneuropathy - obesity - valvulopathy 'Deafness - encephaloneuropathy - obesity - valvulopathy' SubClassOf 'Coenzyme Q10 deficiency' 'Deafness - encephaloneuropathy - obesity - valvulopathy' SubClassOf 'Coenzyme Q10 deficiency' http://purl.obolibrary.org/obo/MONDO_0009930 pulmonary arteriovenous malformation 'pulmonary arteriovenous malformation' SubClassOf 'arteriovenous hemangioma/malformation' 'pulmonary arteriovenous malformation' SubClassOf 'Genetic vascular anomaly' 'pulmonary arteriovenous malformation' SubClassOf 'Non-syndromic respiratory or mediastinal malformation' 'pulmonary arteriovenous malformation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001830 precursor T-cell lymphoblastic leukemia-lymphoma 'precursor T-cell lymphoblastic leukemia-lymphoma' SubClassOf 'acute lymphoblastic leukemia' 'precursor T-cell lymphoblastic leukemia-lymphoma' SubClassOf 'acute lymphoblastic leukemia' http://www.orpha.net/ORDO/Orphanet_254892 Autosomal dominant progressive external ophthalmoplegia 'Autosomal dominant progressive external ophthalmoplegia' SubClassOf 'autosomal dominant disease' 'Autosomal dominant progressive external ophthalmoplegia' SubClassOf 'progressive external ophthalmoplegia with mitochondrial DNA deletions' 'Autosomal dominant progressive external ophthalmoplegia' SubClassOf 'Multiple mitochondrial DNA deletion syndrome' 'Autosomal dominant progressive external ophthalmoplegia' SubClassOf 'Multiple mitochondrial DNA deletion syndrome' http://www.ebi.ac.uk/efo/EFO_1001838 renal nutcracker syndrome 'renal nutcracker syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'renal nutcracker syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019721 http://www.orpha.net/ORDO/Orphanet_254871 Mitochondrial DNA depletion syndrome, hepatocerebral form 'Mitochondrial DNA depletion syndrome, hepatocerebral form' SubClassOf 'has modifier' some 'rare' 'Mitochondrial DNA depletion syndrome, hepatocerebral form' SubClassOf 'Mitochondrial DNA depletion syndrome' 'Mitochondrial DNA depletion syndrome, hepatocerebral form' SubClassOf 'Mitochondrial DNA depletion syndrome' http://www.orpha.net/ORDO/Orphanet_254875 Mitochondrial DNA depletion syndrome, myopathic form 'Mitochondrial DNA depletion syndrome, myopathic form' SubClassOf 'Mitochondrial DNA depletion syndrome' 'Mitochondrial DNA depletion syndrome, myopathic form' SubClassOf 'Disorder of pyrimidine metabolism' 'Mitochondrial DNA depletion syndrome, myopathic form' SubClassOf 'Mitochondrial DNA depletion syndrome' 'Mitochondrial DNA depletion syndrome, myopathic form' SubClassOf 'Disorder of pyrimidine metabolism' http://www.orpha.net/ORDO/Orphanet_264200 14q22q23 microdeletion syndrome '14q22q23 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 14' '14q22q23 microdeletion syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' '14q22q23 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 14' '14q22q23 microdeletion syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.ebi.ac.uk/efo/EFO_1001857 Takayasu arteritis 'Takayasu arteritis' SubClassOf 'syndromic disease' 'Takayasu arteritis' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_1001856 Susac Syndrome 'Susac Syndrome' SubClassOf 'syndromic disease' 'Susac Syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009968 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss 'renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss' SubClassOf 'Autosomal recessive distal renal tubular acidosis' 'renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018440 http://www.orpha.net/ORDO/Orphanet_254886 Autosomal recessive progressive external ophthalmoplegia 'Autosomal recessive progressive external ophthalmoplegia' SubClassOf 'autosomal recessive disease' 'Autosomal recessive progressive external ophthalmoplegia' SubClassOf 'Multiple mitochondrial DNA deletion syndrome' 'Autosomal recessive progressive external ophthalmoplegia' SubClassOf 'progressive external ophthalmoplegia' 'Autosomal recessive progressive external ophthalmoplegia' SubClassOf 'Multiple mitochondrial DNA deletion syndrome' http://purl.obolibrary.org/obo/MONDO_0010953 Fanconi anemia complementation group E 'Fanconi anemia complementation group E' SubClassOf 'Fanconi anemia' 'Fanconi anemia complementation group E' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019391 http://www.orpha.net/ORDO/Orphanet_254881 Spinocerebellar ataxia with epilepsy 'Spinocerebellar ataxia with epilepsy' SubClassOf 'Sensory ataxic neuropathy - dysarthria - ophthalmoparesis' 'Spinocerebellar ataxia with epilepsy' SubClassOf 'Ataxia neuropathy spectrum' http://www.orpha.net/ORDO/Orphanet_276244 Machado-Joseph disease type 3 'Machado-Joseph disease type 3' SubClassOf 'Machado-Joseph disease' 'Machado-Joseph disease type 3' SubClassOf 'Spinocerebellar ataxia type 3' 'Machado-Joseph disease type 3' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0007319 chondrocalcinosis 2 'chondrocalcinosis 2' SubClassOf 'Inborn errors of metabolism' 'chondrocalcinosis 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019052 http://www.orpha.net/ORDO/Orphanet_276249 Xeroderma pigmentosum complementation group A 'Xeroderma pigmentosum complementation group A' SubClassOf 'Xeroderma pigmentosum' 'Xeroderma pigmentosum complementation group A' SubClassOf 'Xeroderma pigmentosum' http://www.orpha.net/ORDO/Orphanet_93367 CINCA syndrome without NLRP3 mutations 'CINCA syndrome without NLRP3 mutations' SubClassOf 'CINCA syndrome' 'CINCA syndrome without NLRP3 mutations' SubClassOf http://purl.obolibrary.org/obo/MONDO_0011776 http://www.ebi.ac.uk/efo/EFO_0001421 liver disease 'liver disease' SubClassOf 'abdominal and pelvic region disorder' http://www.orpha.net/ORDO/Orphanet_276241 Machado-Joseph disease type 2 'Machado-Joseph disease type 2' SubClassOf 'Spinocerebellar ataxia type 3' 'Machado-Joseph disease type 2' SubClassOf 'Machado-Joseph disease' 'Machado-Joseph disease type 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_181393 Growth hormone insensitivity syndrome 'Growth hormone insensitivity syndrome' SubClassOf 'syndromic disease' 'Growth hormone insensitivity syndrome' SubClassOf 'genetic endocrine growth disease' http://www.orpha.net/ORDO/Orphanet_93372 Familial hypocalciuric hypercalcemia type 1 'Familial hypocalciuric hypercalcemia type 1' SubClassOf 'Familial hypocalciuric hypercalcemia' 'Familial hypocalciuric hypercalcemia type 1' SubClassOf 'Familial hypocalciuric hypercalcemia' http://www.orpha.net/ORDO/Orphanet_276234 Non-syndromic male infertility due to sperm motility disorder 'Non-syndromic male infertility due to sperm motility disorder' SubClassOf 'has modifier' some 'has an isolated presentation' 'Non-syndromic male infertility due to sperm motility disorder' EquivalentTo 'male infertility' and ('has modifier' some 'has an isolated presentation') 'Non-syndromic male infertility due to sperm motility disorder' SubClassOf 'male infertility' http://www.orpha.net/ORDO/Orphanet_276238 Machado-Joseph disease type 1 'Machado-Joseph disease type 1' SubClassOf 'Spinocerebellar ataxia type 3' 'Machado-Joseph disease type 1' SubClassOf 'Machado-Joseph disease' 'Machado-Joseph disease type 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001887 epicondylitis 'epicondylitis' SubClassOf 'limb disorder' http://www.orpha.net/ORDO/Orphanet_93387 Brachydactyly type E 'Brachydactyly type E' SubClassOf 'brachydactyly' http://www.orpha.net/ORDO/Orphanet_93384 Brachydactyly type C 'Brachydactyly type C' SubClassOf 'brachydactyly' http://www.orpha.net/ORDO/Orphanet_93383 Brachydactyly type B 'Brachydactyly type B' SubClassOf 'brachydactyly' http://www.orpha.net/ORDO/Orphanet_93382 Brachydactyly type A6 'Brachydactyly type A6' SubClassOf 'brachydactyly' 'Brachydactyly type A6' SubClassOf 'Acromesomelic dysplasia' 'Brachydactyly type A6' SubClassOf 'Acromesomelic dysplasia' http://www.orpha.net/ORDO/Orphanet_276223 Mucopolysaccharidosis type 6, slowly progressing 'Mucopolysaccharidosis type 6, slowly progressing' SubClassOf 'Mucopolysaccharidosis type 6' 'Mucopolysaccharidosis type 6, slowly progressing' SubClassOf 'Mucopolysaccharidosis type 6' http://www.orpha.net/ORDO/Orphanet_93389 Brachydactyly type A5 'Brachydactyly type A5' SubClassOf 'brachydactyly' http://www.orpha.net/ORDO/Orphanet_93388 Brachydactyly type A1 'Brachydactyly type A1' SubClassOf 'brachydactyly' http://www.orpha.net/ORDO/Orphanet_93398 Genochondromatosis type 2 'Genochondromatosis type 2' SubClassOf 'genochondromatosis' http://www.orpha.net/ORDO/Orphanet_93397 Brachydactyly type A7 'Brachydactyly type A7' SubClassOf 'brachydactyly' http://www.orpha.net/ORDO/Orphanet_93396 Brachydactyly type A2 'Brachydactyly type A2' SubClassOf 'syndromic disease' 'Brachydactyly type A2' SubClassOf 'brachydactyly' http://www.orpha.net/ORDO/Orphanet_93395 Ballard syndrome 'Ballard syndrome' SubClassOf 'Syndrome with brachydactyly' 'Ballard syndrome' SubClassOf 'brachydactyly' 'Ballard syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93394 Brachydactyly type A4 'Brachydactyly type A4' SubClassOf 'brachydactyly' http://www.orpha.net/ORDO/Orphanet_276212 Mucopolysaccharidosis type 6, rapidly progressing 'Mucopolysaccharidosis type 6, rapidly progressing' SubClassOf 'Mucopolysaccharidosis type 6' 'Mucopolysaccharidosis type 6, rapidly progressing' SubClassOf 'Mucopolysaccharidosis type 6' http://purl.obolibrary.org/obo/MONDO_0007349 familial cold autoinflammatory syndrome 1 'familial cold autoinflammatory syndrome 1' SubClassOf 'Familial cold urticaria' 'familial cold autoinflammatory syndrome 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018768 http://www.orpha.net/ORDO/Orphanet_93399 juvenile sialidosis type II 'juvenile sialidosis type II' SubClassOf 'sialidosis type II' 'juvenile sialidosis type II' SubClassOf 'sialidosis type II' http://purl.obolibrary.org/obo/MONDO_0007342 clubfoot 'clubfoot' SubClassOf 'Familial clubfoot with or without associated lower limb anomalies' 'clubfoot' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016046 http://www.orpha.net/ORDO/Orphanet_983 Testicular regression syndrome 'Testicular regression syndrome' SubClassOf '46,XY disorder of gonadal development' 'Testicular regression syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017961 http://www.orpha.net/ORDO/Orphanet_168491 Late infantile neuronal ceroid lipofuscinosis 'Late infantile neuronal ceroid lipofuscinosis' SubClassOf 'Neuronal ceroid lipofuscinosis' 'Late infantile neuronal ceroid lipofuscinosis' SubClassOf 'Progressive myoclonic epilepsy' 'Late infantile neuronal ceroid lipofuscinosis' SubClassOf 'Neuronal ceroid lipofuscinosis' 'Late infantile neuronal ceroid lipofuscinosis' SubClassOf 'Progressive myoclonic epilepsy' http://purl.obolibrary.org/obo/MONDO_0007354 coloboma of optic nerve 'coloboma of optic nerve' SubClassOf 'Rare genetic neurological disorder' 'coloboma of optic nerve' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://purl.obolibrary.org/obo/MONDO_0007350 coloboma, ocular, autosomal dominant 'coloboma, ocular, autosomal dominant' SubClassOf 'coloboma' 'coloboma, ocular, autosomal dominant' SubClassOf 'coloboma' http://purl.obolibrary.org/obo/MONDO_0044304 hyperphenylalaninemia due to DNAJC12 deficiency 'hyperphenylalaninemia due to DNAJC12 deficiency' SubClassOf 'Persistent combined dystonia' 'hyperphenylalaninemia due to DNAJC12 deficiency' SubClassOf 'Neurometabolic disease' 'hyperphenylalaninemia due to DNAJC12 deficiency' SubClassOf 'Disorder of pterin metabolism' 'hyperphenylalaninemia due to DNAJC12 deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017756 'hyperphenylalaninemia due to DNAJC12 deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018329 'hyperphenylalaninemia due to DNAJC12 deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019058 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 cataract' 'neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination' SubClassOf 'Monogenic disease with epilepsy' 'neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015653 'neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 'neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020225 http://www.orpha.net/ORDO/Orphanet_254803 Mitochondrial DNA depletion syndrome, encephalomyopathic form 'Mitochondrial DNA depletion syndrome, encephalomyopathic form' SubClassOf 'Neurometabolic disease' 'Mitochondrial DNA depletion syndrome, encephalomyopathic form' SubClassOf 'Mitochondrial DNA depletion syndrome' 'Mitochondrial DNA depletion syndrome, encephalomyopathic form' SubClassOf 'Neurometabolic disease' 'Mitochondrial DNA depletion syndrome, encephalomyopathic form' SubClassOf 'Mitochondrial DNA depletion syndrome' http://www.orpha.net/ORDO/Orphanet_230839 Ehlers-Danlos syndrome due to tenascin-X deficiency 'Ehlers-Danlos syndrome due to tenascin-X deficiency' SubClassOf 'syndromic diaphragmatic or abdominal wall malformation' 'Ehlers-Danlos syndrome due to tenascin-X deficiency' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome due to tenascin-X deficiency' SubClassOf 'syndromic diaphragmatic or thoracic malformation' 'Ehlers-Danlos syndrome due to tenascin-X deficiency' SubClassOf 'Rare disease with dentinogenesis imperfecta' 'Ehlers-Danlos syndrome due to tenascin-X deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_254807 Multiple mitochondrial DNA deletion syndrome 'Multiple mitochondrial DNA deletion syndrome' SubClassOf 'Mitochondrial oxidative phosphorylation disorder' http://www.orpha.net/ORDO/Orphanet_978 ADULT syndrome 'ADULT syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' 'ADULT syndrome' SubClassOf 'Dysostosis of genetic origin' 'ADULT syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'ADULT syndrome' SubClassOf 'EEC syndrome and related syndrome' 'ADULT syndrome' SubClassOf 'congenital limb malformation' 'ADULT syndrome' SubClassOf 'autosomal dominant disease' 'ADULT syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_977 Adrenomyodystrophy 'Adrenomyodystrophy' SubClassOf 'has modifier' some 'rare' 'Adrenomyodystrophy' SubClassOf 'adrenal gland disease' http://www.orpha.net/ORDO/Orphanet_998 Albinism-deafness syndrome 'Albinism-deafness syndrome' SubClassOf 'Developmental anomaly of metabolic origin' 'Albinism-deafness syndrome' SubClassOf 'Syndromic genetic deafness' 'Albinism-deafness syndrome' SubClassOf 'Genetic hypopigmentation of the skin' 'Albinism-deafness syndrome' SubClassOf 'albinism' 'Albinism-deafness syndrome' SubClassOf 'Syndromic genetic deafness' 'Albinism-deafness syndrome' SubClassOf 'Genetic hypopigmentation of the skin' http://www.orpha.net/ORDO/Orphanet_994 Fetal akinesia deformation sequence 'Fetal akinesia deformation sequence' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Fetal akinesia deformation sequence' SubClassOf 'syndromic respiratory or mediastinal malformation' 'Fetal akinesia deformation sequence' SubClassOf 'Arthrogryposis multiplex congenita' 'Fetal akinesia deformation sequence' SubClassOf 'thoracic malformation' 'Fetal akinesia deformation sequence' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_991 PAGOD syndrome 'PAGOD syndrome' SubClassOf 'Syndrome with 46,XY disorder of sex development' 'PAGOD syndrome' SubClassOf 'syndromic diaphragmatic or thoracic malformation' 'PAGOD syndrome' SubClassOf 'Syndrome with 46,XX disorder of sex development' 'PAGOD syndrome' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' 'PAGOD syndrome' SubClassOf 'syndromic uterovaginal malformation' 'PAGOD syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'PAGOD syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_990 Agnathia - holoprosencephaly - situs inversus 'Agnathia - holoprosencephaly - situs inversus' SubClassOf 'syndromic intellectual disability' 'Agnathia - holoprosencephaly - situs inversus' SubClassOf 'congenital nervous system disorder' 'Agnathia - holoprosencephaly - situs inversus' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Agnathia - holoprosencephaly - situs inversus' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-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 'Monogenic disease with epilepsy' 'intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015653 'intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015159 http://www.orpha.net/ORDO/Orphanet_254818 Ataxia neuropathy spectrum 'Ataxia neuropathy spectrum' SubClassOf 'Multiple mitochondrial DNA deletion syndrome' 'Ataxia neuropathy spectrum' SubClassOf 'Multiple mitochondrial DNA deletion syndrome' http://www.orpha.net/ORDO/Orphanet_989 Hypoglossia - hypodactyly 'Hypoglossia - hypodactyly' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Hypoglossia - hypodactyly' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Hypoglossia - hypodactyly' SubClassOf 'Oromandibular-limb hypogenesis syndrome' 'Hypoglossia - hypodactyly' SubClassOf 'congenital limb malformation' 'Hypoglossia - hypodactyly' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Hypoglossia - hypodactyly' SubClassOf 'Oromandibular-limb hypogenesis syndrome' http://www.orpha.net/ORDO/Orphanet_988 Absent tibia - polydactyly 'Absent tibia - polydactyly' SubClassOf 'congenital limb malformation' 'Absent tibia - polydactyly' SubClassOf 'tibia, hypoplasia or aplasia of, with polydactyly' 'Absent tibia - polydactyly' SubClassOf 'Dysostosis of genetic origin' http://www.ebi.ac.uk/efo/EFO_0001365 age-related macular degeneration 'age-related macular degeneration' SubClassOf 'Retinal dystrophy' 'age-related macular degeneration' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019118 http://www.orpha.net/ORDO/Orphanet_230857 Ehlers-Danlos/osteogenesis imperfecta syndrome 'Ehlers-Danlos/osteogenesis imperfecta syndrome' SubClassOf 'disease has feature' some 'Osteogenesis imperfecta' 'Ehlers-Danlos/osteogenesis imperfecta syndrome' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos/osteogenesis imperfecta syndrome' SubClassOf 'Primary bone dysplasia with decreased bone density' 'Ehlers-Danlos/osteogenesis imperfecta syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_999 Ermine phenotype 'Ermine phenotype' SubClassOf 'Syndromic genetic deafness' 'Ermine phenotype' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_230851 Ehlers-Danlos syndrome, cardiac valvular type 'Ehlers-Danlos syndrome, cardiac valvular type' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, cardiac valvular type' SubClassOf 'heart disease' 'Ehlers-Danlos syndrome, cardiac valvular type' SubClassOf 'Rare syndrome with cardiac malformations' 'Ehlers-Danlos syndrome, cardiac valvular type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001357 sporadic amyotrophic lateral sclerosis 'sporadic amyotrophic lateral sclerosis' SubClassOf 'amyotrophic lateral sclerosis' 'sporadic amyotrophic lateral sclerosis' SubClassOf 'amyotrophic lateral sclerosis' http://www.ebi.ac.uk/efo/EFO_0001356 familial amyotrophic lateral sclerosis 'familial amyotrophic lateral sclerosis' SubClassOf 'amyotrophic lateral sclerosis' 'familial amyotrophic lateral sclerosis' SubClassOf 'Genetic motor neuron disease' 'familial amyotrophic lateral sclerosis' SubClassOf 'amyotrophic lateral sclerosis' 'familial amyotrophic lateral sclerosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024257 http://www.orpha.net/ORDO/Orphanet_230845 Ehlers-Danlos syndrome, vascular-like type 'Ehlers-Danlos syndrome, vascular-like type' SubClassOf 'Rare genetic vascular disease' 'Ehlers-Danlos syndrome, vascular-like type' SubClassOf 'vascular disease' 'Ehlers-Danlos syndrome, vascular-like type' SubClassOf 'has modifier' some 'rare' 'Ehlers-Danlos syndrome, vascular-like type' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, vascular-like type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019362 epidemic louse-borne typhus 'epidemic louse-borne typhus' SubClassOf 'typhus' 'epidemic louse-borne typhus' SubClassOf 'typhus' http://www.orpha.net/ORDO/Orphanet_168454 Spondyloepimetaphyseal dysplasia, Geneviève type 'Spondyloepimetaphyseal dysplasia, Geneviève type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepimetaphyseal dysplasia, Geneviève type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_254851 Maternally-inherited mitochondrial dystonia 'Maternally-inherited mitochondrial dystonia' SubClassOf 'Mitochondrial oxidative phosphorylation disorder' http://www.orpha.net/ORDO/Orphanet_168451 Spondyloepimetaphyseal dysplasia - abnormal dentition 'Spondyloepimetaphyseal dysplasia - abnormal dentition' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepimetaphyseal dysplasia - abnormal dentition' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_254854 Pure mitochondrial myopathy 'Pure mitochondrial myopathy' SubClassOf 'Maternally-inherited mitochondrial myopathy' 'Pure mitochondrial myopathy' SubClassOf 'Maternally-inherited mitochondrial myopathy' http://www.orpha.net/ORDO/Orphanet_181428 Hyperalphalipoproteinemia 'Hyperalphalipoproteinemia' SubClassOf 'hyperlipoproteinemia' 'Hyperalphalipoproteinemia' SubClassOf 'has modifier' some 'rare' 'Hyperalphalipoproteinemia' SubClassOf 'familial hyperlipidemia' 'Hyperalphalipoproteinemia' SubClassOf 'hyperlipidemia' http://purl.obolibrary.org/obo/MONDO_0007399 TWIST1-related craniosynostosis 'TWIST1-related craniosynostosis' SubClassOf 'Isolated brachycephaly' 'TWIST1-related craniosynostosis' SubClassOf 'Isolated oxycephaly' 'TWIST1-related craniosynostosis' SubClassOf 'Isolated plagiocephaly' 'TWIST1-related craniosynostosis' SubClassOf 'Isolated scaphocephaly' 'TWIST1-related craniosynostosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018112 'TWIST1-related craniosynostosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018113 'TWIST1-related craniosynostosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018971 'TWIST1-related craniosynostosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018114 http://www.orpha.net/ORDO/Orphanet_181425 Major hypertriglyceridemia 'Major hypertriglyceridemia' SubClassOf 'hyperlipidemia' 'Major hypertriglyceridemia' SubClassOf 'has modifier' some 'rare' 'Major hypertriglyceridemia' SubClassOf 'familial hyperlipidemia' http://purl.obolibrary.org/obo/MONDO_0044349 acquired hemoglobinopathy 'acquired hemoglobinopathy' EquivalentTo 'Hemoglobinopathy' and ('has modifier' some 'acquired') 'acquired hemoglobinopathy' SubClassOf 'Hemoglobinopathy' 'acquired hemoglobinopathy' SubClassOf 'inherited hemoglobinopathy' 'acquired hemoglobinopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044348 'acquired hemoglobinopathy' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0044348 and ('has modifier' some 'acquired') http://purl.obolibrary.org/obo/MONDO_0020379 early-onset zonular cataract 'early-onset zonular cataract' SubClassOf 'Partial congenital cataract' 'early-onset zonular cataract' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020377 http://www.orpha.net/ORDO/Orphanet_254846 Isolated oxidative phosphorylation complex disorder 'Isolated oxidative phosphorylation complex disorder' SubClassOf 'Mitochondrial oxidative phosphorylation disorder' 'Isolated oxidative phosphorylation complex disorder' SubClassOf 'Mitochondrial oxidative phosphorylation disorder' http://www.orpha.net/ORDO/Orphanet_168443 Spondyloepimetaphyseal dysplasia - hypotrichosis 'Spondyloepimetaphyseal dysplasia - hypotrichosis' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepimetaphyseal dysplasia - hypotrichosis' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_252202 Constitutional mismatch repair deficiency syndrome 'Constitutional mismatch repair deficiency syndrome' SubClassOf 'inherited nervous system cancer-predisposing syndrome' 'Constitutional mismatch repair deficiency syndrome' SubClassOf 'Rare genetic neurological disorder' 'Constitutional mismatch repair deficiency syndrome' SubClassOf 'mismatch repair cancer syndrome' 'Constitutional mismatch repair deficiency syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' 'Constitutional mismatch repair deficiency syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' http://www.orpha.net/ORDO/Orphanet_254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency 'Mitochondrial myopathy with reversible cytochrome C oxidase deficiency' SubClassOf 'Mitochondrial myopathy' 'Mitochondrial myopathy with reversible cytochrome C oxidase deficiency' SubClassOf 'Maternally-inherited mitochondrial myopathy' 'Mitochondrial myopathy with reversible cytochrome C oxidase deficiency' SubClassOf 'Maternally-inherited mitochondrial myopathy' http://www.orpha.net/ORDO/Orphanet_181437 Rare syndromic dyslipidemia 'Rare syndromic dyslipidemia' EquivalentTo 'Disorder of lipid metabolism' and ('has modifier' some 'has a syndromic presentation') 'Rare syndromic dyslipidemia' SubClassOf 'syndromic disease' 'Rare syndromic dyslipidemia' SubClassOf 'has modifier' some 'rare' 'Rare syndromic dyslipidemia' SubClassOf 'Disorder of lipid metabolism' http://www.orpha.net/ORDO/Orphanet_168448 Spondyloepimetaphyseal dysplasia, Bieganski type 'Spondyloepimetaphyseal dysplasia, Bieganski type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepimetaphyseal dysplasia, Bieganski type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_254857 Lethal infantile mitochondrial myopathy 'Lethal infantile mitochondrial myopathy' SubClassOf 'Maternally-inherited mitochondrial myopathy' 'Lethal infantile mitochondrial myopathy' SubClassOf 'Mitochondrial myopathy' 'Lethal infantile mitochondrial myopathy' SubClassOf 'Maternally-inherited mitochondrial myopathy' http://www.orpha.net/ORDO/Orphanet_254830 Mitochondrial substrate carrier disorder 'Mitochondrial substrate carrier disorder' SubClassOf 'Mitochondrial membrane transport disorder' 'Mitochondrial substrate carrier disorder' SubClassOf 'Mitochondrial membrane transport disorder' http://www.orpha.net/ORDO/Orphanet_254834 Mitochondrial protein import disorder 'Mitochondrial protein import disorder' SubClassOf 'Mitochondrial membrane transport disorder' 'Mitochondrial protein import disorder' SubClassOf 'Mitochondrial membrane transport disorder' http://purl.obolibrary.org/obo/MONDO_0020398 congenital mitral stenosis 'congenital mitral stenosis' SubClassOf 'congenital mitral valve insufficiency and/or stenosis' 'congenital mitral stenosis' SubClassOf 'congenital mitral valve insufficiency and/or stenosis' http://purl.obolibrary.org/obo/MONDO_0044325 Fanconi anemia, complementation group W 'Fanconi anemia, complementation group W' SubClassOf 'Fanconi anemia' 'Fanconi anemia, complementation group W' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019391 http://purl.obolibrary.org/obo/MONDO_0044327 polycystic liver disease 4 with or without kidney cysts 'polycystic liver disease 4 with or without kidney cysts' SubClassOf 'autosomal dominant polycystic liver disease' 'polycystic liver disease 4 with or without kidney cysts' SubClassOf 'autosomal dominant polycystic liver disease' http://www.orpha.net/ORDO/Orphanet_254827 Mitochondrial membrane transport disorder 'Mitochondrial membrane transport disorder' SubClassOf 'inborn mitochondrial metabolism disorder' 'Mitochondrial membrane transport disorder' SubClassOf 'Mitochondrial disease' http://purl.obolibrary.org/obo/MONDO_0044334 connective and soft tissue neoplasm 'connective and soft tissue neoplasm' SubClassOf 'neoplasm' 'connective and soft tissue neoplasm' SubClassOf 'neoplasm' http://purl.obolibrary.org/obo/MONDO_0044335 benign soft tissue neoplasm 'benign soft tissue neoplasm' SubClassOf 'benign connective and soft tissue neoplasm' 'benign soft tissue neoplasm' SubClassOf 'benign connective and soft tissue neoplasm' http://www.orpha.net/ORDO/Orphanet_181412 Adrenogenital syndrome 'Adrenogenital syndrome' SubClassOf 'steroid metabolism disease' 'Adrenogenital syndrome' SubClassOf 'Inborn errors of metabolism' 'Adrenogenital syndrome' SubClassOf 'adrenal gland disease' http://www.ebi.ac.uk/efo/EFO_1001822 Paroxysmal Hemicrania 'Paroxysmal Hemicrania' SubClassOf 'head and neck disorder' http://www.orpha.net/ORDO/Orphanet_254837 Unspecified mitochondrial disorder 'Unspecified mitochondrial disorder' SubClassOf 'inborn mitochondrial metabolism disorder' 'Unspecified mitochondrial disorder' SubClassOf 'Mitochondrial disease' http://www.orpha.net/ORDO/Orphanet_910 Xeroderma pigmentosum 'Xeroderma pigmentosum' SubClassOf 'Genetic progeroid syndrome' 'Xeroderma pigmentosum' SubClassOf 'Genetic photodermatosis' 'Xeroderma pigmentosum' SubClassOf 'progeroid syndrome' 'Xeroderma pigmentosum' SubClassOf 'DNA repair deficiency' 'Xeroderma pigmentosum' SubClassOf 'Developmental anomaly of metabolic origin' 'Xeroderma pigmentosum' SubClassOf 'progeroid syndrome' 'Xeroderma pigmentosum' SubClassOf 'Genetic photodermatosis' http://www.orpha.net/ORDO/Orphanet_909 Cerebrotendinous xanthomatosis 'Cerebrotendinous xanthomatosis' SubClassOf 'Genetic peripheral neuropathy' 'Cerebrotendinous xanthomatosis' SubClassOf 'Cerebral organic aciduria' 'Cerebrotendinous xanthomatosis' SubClassOf 'cerebellar degeneration' 'Cerebrotendinous xanthomatosis' SubClassOf 'cerebral lipidosis with dementia' 'Cerebrotendinous xanthomatosis' SubClassOf 'cholesterol catabolic process disease' 'Cerebrotendinous xanthomatosis' SubClassOf 'xanthomatosis' 'Cerebrotendinous xanthomatosis' SubClassOf 'eye degenerative disorder' 'Cerebrotendinous xanthomatosis' SubClassOf 'Rare syndromic dyslipidemia' 'Cerebrotendinous xanthomatosis' SubClassOf 'Neurometabolic disease' 'Cerebrotendinous xanthomatosis' SubClassOf 'Leukodystrophy' 'Cerebrotendinous xanthomatosis' SubClassOf 'Autosomal recessive metabolic cerebellar ataxia' 'Cerebrotendinous xanthomatosis' SubClassOf 'subcutaneous tissue disorder' 'Cerebrotendinous xanthomatosis' SubClassOf 'Rare syndromic dyslipidemia' 'Cerebrotendinous xanthomatosis' SubClassOf 'Neurometabolic disease' 'Cerebrotendinous xanthomatosis' SubClassOf 'Leukodystrophy' 'Cerebrotendinous xanthomatosis' SubClassOf 'Autosomal recessive metabolic cerebellar ataxia' http://www.orpha.net/ORDO/Orphanet_908 Fragile X syndrome 'Fragile X syndrome' SubClassOf 'epilepsy' 'Fragile X syndrome' SubClassOf 'congenital nervous system disorder' 'Fragile X syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Fragile X syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Fragile X syndrome' SubClassOf 'Motor stereotypies' 'Fragile X syndrome' SubClassOf 'Syndromic obesity' 'Fragile X syndrome' SubClassOf 'epilepsy' 'Fragile X syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 'Fragile X syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Fragile X syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016565 'Fragile X syndrome' SubClassOf 'Syndromic obesity' 'Fragile X syndrome' SubClassOf 'Motor stereotypies' http://www.orpha.net/ORDO/Orphanet_906 Wiskott-Aldrich syndrome 'Wiskott-Aldrich syndrome' SubClassOf 'Combined T and B cell immunodeficiency' 'Wiskott-Aldrich syndrome' SubClassOf 'genetic skin disease' 'Wiskott-Aldrich syndrome' SubClassOf 'Rare genetic coagulation disorder' 'Wiskott-Aldrich syndrome' SubClassOf 'X-linked disease' 'Wiskott-Aldrich syndrome' SubClassOf 'Other immunodeficiency syndrome due to defects in adaptive immunity' 'Wiskott-Aldrich syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' 'Wiskott-Aldrich syndrome' SubClassOf 'Genetic immune deficiency with skin involvement' 'Wiskott-Aldrich syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Wiskott-Aldrich syndrome' SubClassOf 'Dense granule disease' 'Wiskott-Aldrich syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_905 Wilson disease 'Wilson disease' SubClassOf 'Rare disorder with dystonia and other neurologic or systemic manifestation' 'Wilson disease' SubClassOf 'inborn metal metabolism disorder' 'Wilson disease' SubClassOf 'Genetic peripheral neuropathy' 'Wilson disease' SubClassOf 'Metabolic disease with cataract' 'Wilson disease' SubClassOf 'Disorder of copper metabolism' 'Wilson disease' SubClassOf 'Rare genetic dystonia' 'Wilson disease' SubClassOf 'Rare genetic tremor disorder' 'Wilson disease' SubClassOf 'Supranuclear oculomotor palsy' 'Wilson disease' SubClassOf 'Rare metabolic liver disease' 'Wilson disease' SubClassOf 'Neurometabolic disease' 'Wilson disease' SubClassOf 'Metabolic disease with corneal opacity' 'Wilson disease' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Wilson disease' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' 'Wilson disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_904 Williams syndrome 'Williams syndrome' SubClassOf 'neurovascular disorder' 'Williams syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Williams syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 7' 'Williams syndrome' SubClassOf 'neurodevelopmental disorder' 'Williams syndrome' SubClassOf 'Syndromic epicanthus' 'Williams syndrome' SubClassOf 'Rare syndrome with cardiac malformations' 'Williams syndrome' SubClassOf 'Genetic hypertension' 'Williams syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Williams syndrome' SubClassOf 'congenital nervous system disorder' 'Williams syndrome' SubClassOf 'heart disease' 'Williams syndrome' SubClassOf 'syndromic intellectual disability' 'Williams syndrome' SubClassOf 'disease has feature' some 'Supravalvular aortic stenosis' 'Williams syndrome' SubClassOf 'Motor stereotypies' 'Williams syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_903 Von Willebrand disease 'Von Willebrand disease' SubClassOf 'hemorrhagic disease' 'Von Willebrand disease' SubClassOf 'von Willebrand disease (hereditary or acquired)' 'Von Willebrand disease' EquivalentTo 'von Willebrand disease (hereditary or acquired)' and ('has modifier' some 'inherited') http://www.orpha.net/ORDO/Orphanet_902 Werner syndrome 'Werner syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Werner syndrome' SubClassOf 'Genetic progeroid syndrome' 'Werner syndrome' SubClassOf 'autosomal recessive disease' 'Werner syndrome' SubClassOf 'Hereditary poikiloderma' 'Werner syndrome' SubClassOf 'Ectodermal malformation syndrome associated with ocular features' 'Werner syndrome' SubClassOf 'progeroid syndrome' 'Werner syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Werner syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_921 Abruzzo-Erickson syndrome 'Abruzzo-Erickson syndrome' SubClassOf 'Orofacial clefting syndrome' 'Abruzzo-Erickson syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Abruzzo-Erickson syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'Abruzzo-Erickson syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_920 Ablepharon macrostomia syndrome 'Ablepharon macrostomia syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Ablepharon macrostomia syndrome' SubClassOf 'Orofacial clefting syndrome' 'Ablepharon macrostomia syndrome' SubClassOf 'Microblepharon - ablephara' 'Ablepharon macrostomia syndrome' SubClassOf 'Orofacial clefting syndrome' 'Ablepharon macrostomia syndrome' SubClassOf 'Microblepharon - ablephara' http://www.orpha.net/ORDO/Orphanet_916 Aase-Smith syndrome 'Aase-Smith syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Aase-Smith syndrome' SubClassOf 'Genetic syndrome with a Dandy-Walker malformation as major feature' 'Aase-Smith syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Aase-Smith syndrome' SubClassOf 'Rare genetic neurological disorder' 'Aase-Smith syndrome' SubClassOf 'central nervous system malformation' 'Aase-Smith syndrome' SubClassOf 'congenital nervous system disorder' 'Aase-Smith syndrome' SubClassOf 'Orofacial clefting syndrome' 'Aase-Smith syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_915 Aarskog-Scott syndrome 'Aarskog-Scott syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'Aarskog-Scott syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Aarskog-Scott syndrome' SubClassOf 'Syndromic lymphedema' 'Aarskog-Scott syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Aarskog-Scott syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Aarskog-Scott syndrome' SubClassOf 'Milroy disease' 'Aarskog-Scott syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'Aarskog-Scott syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' 'Aarskog-Scott syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_912 Zellweger syndrome 'Zellweger syndrome' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Zellweger syndrome' SubClassOf 'eye degenerative disorder' 'Zellweger syndrome' SubClassOf 'Peroxisome biogenesis disorder-Zellweger syndrome spectrum' 'Zellweger syndrome' SubClassOf 'Developmental anomaly of metabolic origin' 'Zellweger syndrome' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Zellweger syndrome' SubClassOf 'Peroxisome biogenesis disorder-Zellweger syndrome spectrum' 'Zellweger syndrome' SubClassOf 'Developmental anomaly of metabolic origin' http://www.orpha.net/ORDO/Orphanet_911 Combined immunodeficiency due to ZAP70 deficiency 'Combined immunodeficiency due to ZAP70 deficiency' SubClassOf 'non-SCID combined immunodeficiency' 'Combined immunodeficiency due to ZAP70 deficiency' SubClassOf 'Combined T and B cell immunodeficiency' http://www.orpha.net/ORDO/Orphanet_932 Achondrogenesis 'Achondrogenesis' SubClassOf 'Spondylodysplastic dysplasia' 'Achondrogenesis' SubClassOf 'osteochondrodysplasia' 'Achondrogenesis' SubClassOf 'Spondylodysplastic dysplasia' http://www.orpha.net/ORDO/Orphanet_931 Acheiropodia 'Acheiropodia' SubClassOf 'Terminal limb defects' 'Acheiropodia' SubClassOf 'osteochondrodysplasia' 'Acheiropodia' SubClassOf 'Terminal limb defects' 'Acheiropodia' SubClassOf 'osteochondrodysplasia' http://www.orpha.net/ORDO/Orphanet_929 Achalasia - microcephaly 'Achalasia - microcephaly' SubClassOf 'Genetic syndromic esophageal malformation' 'Achalasia - microcephaly' SubClassOf 'autosomal recessive disease' 'Achalasia - microcephaly' SubClassOf 'Genetic syndromic esophageal malformation' http://www.orpha.net/ORDO/Orphanet_927 Hyperammonemia due to N-acetylglutamate synthetase deficiency 'Hyperammonemia due to N-acetylglutamate synthetase deficiency' SubClassOf 'urea cycle disorder' http://www.orpha.net/ORDO/Orphanet_926 Acatalasemia 'Acatalasemia' SubClassOf 'Disorder of peroxisomal alpha-, beta- and omega-oxidation' 'Acatalasemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_941 D-glyceric aciduria 'D-glyceric aciduria' SubClassOf 'Disorder of glyoxylate metabolism' 'D-glyceric aciduria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_939 3-hydroxyisobutyric aciduria '3-hydroxyisobutyric aciduria' SubClassOf 'Classic organic aciduria' '3-hydroxyisobutyric aciduria' SubClassOf 'valine metabolism disease' '3-hydroxyisobutyric aciduria' SubClassOf 'inherited amino acid metabolic disorder' '3-hydroxyisobutyric aciduria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_935 Short-limb skeletal dysplasia with severe combined immunodeficiency 'Short-limb skeletal dysplasia with severe combined immunodeficiency' SubClassOf 'T-B- severe combined immunodeficiency' 'Short-limb skeletal dysplasia with severe combined immunodeficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017855 http://www.orpha.net/ORDO/Orphanet_952 Acrofacial dysostosis, Weyers type 'Acrofacial dysostosis, Weyers type' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Acrofacial dysostosis, Weyers type' SubClassOf 'Acrofacial dysostosis' 'Acrofacial dysostosis, Weyers type' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Acrofacial dysostosis, Weyers type' SubClassOf 'Ectodermal dysplasia syndrome' 'Acrofacial dysostosis, Weyers type' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Acrofacial dysostosis, Weyers type' SubClassOf 'Acrofacial dysostosis' 'Acrofacial dysostosis, Weyers type' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Acrofacial dysostosis, Weyers type' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_950 Acrodysostosis 'Acrodysostosis' SubClassOf 'Mandibulofacial dysostosis' 'Acrodysostosis' SubClassOf 'Dysostosis of genetic origin' 'Acrodysostosis' SubClassOf 'Acromelic dysplasia' 'Acrodysostosis' SubClassOf 'Mandibulofacial dysostosis' 'Acrodysostosis' SubClassOf 'Acromelic dysplasia' http://www.orpha.net/ORDO/Orphanet_949 Acrocraniofacial dysostosis 'Acrocraniofacial dysostosis' SubClassOf 'Acrofacial dysostosis' 'Acrocraniofacial dysostosis' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Acrocraniofacial dysostosis' SubClassOf 'Acrofacial dysostosis' 'Acrocraniofacial dysostosis' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_946 Acrocephalosyndactyly 'Acrocephalosyndactyly' SubClassOf 'congenital limb malformation' 'Acrocephalosyndactyly' SubClassOf 'Syndromic craniosynostosis' 'Acrocephalosyndactyly' SubClassOf 'Syndromic craniosynostosis' http://www.orpha.net/ORDO/Orphanet_965 Acromegaloid facial appearance syndrome 'Acromegaloid facial appearance syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://www.orpha.net/ORDO/Orphanet_959 Acro-renal-ocular syndrome 'Acro-renal-ocular syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Acro-renal-ocular syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_958 Acro-renal-mandibular syndrome 'Acro-renal-mandibular syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Acro-renal-mandibular syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_957 Acropectorovertebral dysplasia 'Acropectorovertebral dysplasia' SubClassOf 'thoracic malformation' http://www.orpha.net/ORDO/Orphanet_956 Acro-pectoro-renal dysplasia 'Acro-pectoro-renal dysplasia' SubClassOf 'syndromic breast hypoplasia/aplasia' 'Acro-pectoro-renal dysplasia' SubClassOf 'Syndromic renal or urinary tract malformation' 'Acro-pectoro-renal dysplasia' SubClassOf 'Syndromic renal or urinary tract malformation' http://www.orpha.net/ORDO/Orphanet_955 Acroosteolysis dominant type 'Acroosteolysis dominant type' SubClassOf 'rheumatic disease' 'Acroosteolysis dominant type' SubClassOf 'disappearing bone disease' 'Acroosteolysis dominant type' SubClassOf 'Syndromic renal or urinary tract malformation' 'Acroosteolysis dominant type' SubClassOf 'hereditary disorder of connective tissue' 'Acroosteolysis dominant type' SubClassOf 'autosomal dominant disease' 'Acroosteolysis dominant type' SubClassOf 'Syndromic urogenital tract malformation' 'Acroosteolysis dominant type' SubClassOf 'acroosteolysis' 'Acroosteolysis dominant type' SubClassOf 'Primary osteolysis' 'Acroosteolysis dominant type' SubClassOf 'Syndromic renal or urinary tract malformation' http://www.orpha.net/ORDO/Orphanet_976 Adenine phosphoribosyltransferase deficiency 'Adenine phosphoribosyltransferase deficiency' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Adenine phosphoribosyltransferase deficiency' SubClassOf 'inherited amino acid metabolic disorder' 'Adenine phosphoribosyltransferase deficiency' SubClassOf 'Disorder of purine metabolism' 'Adenine phosphoribosyltransferase deficiency' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Adenine phosphoribosyltransferase deficiency' SubClassOf 'Disorder of purine metabolism' http://www.orpha.net/ORDO/Orphanet_974 Adams-Oliver syndrome 'Adams-Oliver syndrome' SubClassOf 'genetic skin disease' 'Adams-Oliver syndrome' SubClassOf 'Dysostosis of genetic origin' 'Adams-Oliver syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' 'Adams-Oliver syndrome' SubClassOf 'congenital limb malformation' 'Adams-Oliver syndrome' SubClassOf 'mixed dermis disorder' 'Adams-Oliver syndrome' SubClassOf 'Genetic mixed dermis disorder' 'Adams-Oliver syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_973 Congenital absence/hypoplasia of fingers excluding thumb, unilateral 'Congenital absence/hypoplasia of fingers excluding thumb, unilateral' SubClassOf 'Congenital absence/hypoplasia of fingers excluding thumb' 'Congenital absence/hypoplasia of fingers excluding thumb, unilateral' SubClassOf 'Congenital absence/hypoplasia of fingers excluding thumb' http://www.orpha.net/ORDO/Orphanet_972 Hereditary continuous muscle fiber activity 'Hereditary continuous muscle fiber activity' SubClassOf 'syndromic disease' 'Hereditary continuous muscle fiber activity' SubClassOf 'Non-dystrophic myopathy' 'Hereditary continuous muscle fiber activity' SubClassOf 'Non-dystrophic myopathy' http://www.orpha.net/ORDO/Orphanet_971 Acrorenal syndrome 'Acrorenal syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Acrorenal syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Acrorenal syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Acrorenal syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_970 Hereditary sensory and autonomic neuropathy type 2 'Hereditary sensory and autonomic neuropathy type 2' SubClassOf 'Hereditary sensory and autonomic neuropathy' http://www.orpha.net/ORDO/Orphanet_969 Acromicric dysplasia 'Acromicric dysplasia' SubClassOf 'Acromelic dysplasia' 'Acromicric dysplasia' SubClassOf 'Acromelic dysplasia' http://www.orpha.net/ORDO/Orphanet_968 Acromesomelic dysplasia, Hunter-Thomson type 'Acromesomelic dysplasia, Hunter-Thomson type' SubClassOf 'Acromesomelic dysplasia' 'Acromesomelic dysplasia, Hunter-Thomson type' SubClassOf 'Acromesomelic dysplasia' http://www.orpha.net/ORDO/Orphanet_966 Hypertrichosis-acromegaloid facial appearance syndrome 'Hypertrichosis-acromegaloid facial appearance syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Hypertrichosis-acromegaloid facial appearance syndrome' SubClassOf 'Hypertrichosis' 'Hypertrichosis-acromegaloid facial appearance syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Hypertrichosis-acromegaloid facial appearance syndrome' SubClassOf 'Hypertrichosis' http://purl.obolibrary.org/obo/MONDO_0003681 myxoid chondrosarcoma 'myxoid chondrosarcoma' SubClassOf 'chondrosarcoma' 'myxoid chondrosarcoma' SubClassOf 'chondrosarcoma' http://purl.obolibrary.org/obo/MONDO_0015667 acute myeloid leukemia by FAB classification 'acute myeloid leukemia by FAB classification' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia by FAB classification' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia by FAB classification' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia by FAB classification' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017893 http://purl.obolibrary.org/obo/MONDO_0013017 hypotrichosis 5 'hypotrichosis 5' SubClassOf 'Marie Unna hereditary hypotrichosis' 'hypotrichosis 5' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018631 'hypotrichosis 5' SubClassOf 'genetic alopecia' http://purl.obolibrary.org/obo/MONDO_0001056 gastric cancer 'gastric cancer' SubClassOf 'digestive system cancer' 'gastric cancer' SubClassOf 'digestive system cancer' http://purl.obolibrary.org/obo/MONDO_0015699 immunodeficiency due to a classical component pathway complement deficiency 'immunodeficiency due to a classical component pathway complement deficiency' SubClassOf 'complement deficiency' 'immunodeficiency due to a classical component pathway complement deficiency' SubClassOf 'complement deficiency' http://purl.obolibrary.org/obo/MONDO_0001063 cardia cancer 'cardia cancer' SubClassOf 'gastric cancer' 'cardia cancer' SubClassOf 'gastric cancer' http://purl.obolibrary.org/obo/MONDO_0040677 invasive carcinoma 'invasive carcinoma' SubClassOf 'carcinoma' 'invasive carcinoma' SubClassOf 'carcinoma' http://purl.obolibrary.org/obo/MONDO_0013048 hereditary spastic paraplegia 50 'hereditary spastic paraplegia 50' SubClassOf 'Severe intellectual disability and progressive spastic paraplegia' 'hereditary spastic paraplegia 50' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017241 http://www.orpha.net/ORDO/Orphanet_174590 Congenital hypogonadotropic hypogonadism 'Congenital hypogonadotropic hypogonadism' SubClassOf 'Non-acquired pituitary hormone deficiency' 'Congenital hypogonadotropic hypogonadism' SubClassOf 'female infertility' 'Congenital hypogonadotropic hypogonadism' SubClassOf 'Anomaly of puberty or/and menstrual cycle of genetic origin' 'Congenital hypogonadotropic hypogonadism' SubClassOf 'hypogonadotropic hypogonadism' 'Congenital hypogonadotropic hypogonadism' SubClassOf 'male infertility' 'Congenital hypogonadotropic hypogonadism' SubClassOf 'Non-acquired pituitary hormone deficiency' 'Congenital hypogonadotropic hypogonadism' SubClassOf 'Anomaly of puberty or/and menstrual cycle of genetic origin' http://www.orpha.net/ORDO/Orphanet_30924 Primary hypomagnesemia with secondary hypocalcemia 'Primary hypomagnesemia with secondary hypocalcemia' SubClassOf 'Familial primary hypomagnesemia with normocalcuria' 'Primary hypomagnesemia with secondary hypocalcemia' SubClassOf 'Familial primary hypomagnesemia with normocalcuria' http://www.orpha.net/ORDO/Orphanet_30925 Hereditary central diabetes insipidus 'Hereditary central diabetes insipidus' SubClassOf 'Rare genetic neurological disorder' 'Hereditary central diabetes insipidus' SubClassOf 'pituitary gland disease' 'Hereditary central diabetes insipidus' SubClassOf 'diabetes insipidus' 'Hereditary central diabetes insipidus' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0001083 Fanconi renotubular syndrome 'Fanconi renotubular syndrome' SubClassOf 'syndromic disease' 'Fanconi renotubular syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0040653 autosomal recessive ocular albinism 'autosomal recessive ocular albinism' SubClassOf 'Ocular albinism' 'autosomal recessive ocular albinism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017304 http://purl.obolibrary.org/obo/MONDO_0013062 long QT syndrome 12 'long QT syndrome 12' SubClassOf 'Familial long QT syndrome' 'long QT syndrome 12' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019171 http://www.orpha.net/ORDO/Orphanet_353298 Roifman syndrome 'Roifman syndrome' SubClassOf 'Immunodeficiency predominantly affecting antibody production' 'Roifman syndrome' SubClassOf 'Other immunodeficiency syndrome with predominantly antibody defects' 'Roifman syndrome' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Roifman syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Roifman syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0013081 lymphoproliferative syndrome 1 'lymphoproliferative syndrome 1' SubClassOf 'Autosomal recessive lymphoproliferative disease' 'lymphoproliferative syndrome 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016536 http://www.orpha.net/ORDO/Orphanet_208447 Bilateral generalized polymicrogyria 'Bilateral generalized polymicrogyria' SubClassOf 'Bilateral polymicrogyria' 'Bilateral generalized polymicrogyria' SubClassOf 'microcephalic primordial dwarfism due to RTTN deficiency' 'Bilateral generalized polymicrogyria' SubClassOf 'Bilateral polymicrogyria' http://www.orpha.net/ORDO/Orphanet_208444 Bilateral frontal polymicrogyria 'Bilateral frontal polymicrogyria' SubClassOf 'Bilateral polymicrogyria' 'Bilateral frontal polymicrogyria' SubClassOf 'Bilateral polymicrogyria' http://www.orpha.net/ORDO/Orphanet_208441 Bilateral parasagittal parieto-occipital polymicrogyria 'Bilateral parasagittal parieto-occipital polymicrogyria' SubClassOf 'Bilateral polymicrogyria' 'Bilateral parasagittal parieto-occipital polymicrogyria' SubClassOf 'Bilateral polymicrogyria' http://www.orpha.net/ORDO/Orphanet_137639 Leukoencephalopathy - ataxia - hypodontia - hypomyelination 'Leukoencephalopathy - ataxia - hypodontia - hypomyelination' SubClassOf 'Leukodystrophy' http://www.orpha.net/ORDO/Orphanet_137631 Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis 'Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis' SubClassOf 'T-B+ severe combined immunodeficiency' 'Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis' SubClassOf 'primary interstitial lung disease specific to childhood' http://www.orpha.net/ORDO/Orphanet_137658 Microcephaly - intellectual disability - phalangeal and neurological anomalies 'Microcephaly - intellectual disability - phalangeal and neurological anomalies' SubClassOf 'congenital nervous system disorder' 'Microcephaly - intellectual disability - phalangeal and neurological anomalies' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Microcephaly - intellectual disability - phalangeal and neurological anomalies' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_137667 Capillary malformation - arteriovenous malformation 'Capillary malformation - arteriovenous malformation' SubClassOf 'Genetic vascular anomaly' 'Capillary malformation - arteriovenous malformation' SubClassOf 'capillary malformation' 'Capillary malformation - arteriovenous malformation' SubClassOf 'Genetic vascular anomaly' http://www.orpha.net/ORDO/Orphanet_137605 Legius syndrome 'Legius syndrome' SubClassOf 'Noonan syndrome and Noonan-related syndrome' 'Legius syndrome' SubClassOf 'Malformation syndrome with hamartosis' 'Legius syndrome' SubClassOf 'Genetic hyperpigmentation of the skin' 'Legius syndrome' SubClassOf 'developmental defect during embryogenesis' 'Legius syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_137608 Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus 'Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus' SubClassOf 'melanocytic nevus' 'Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus' SubClassOf 'PTEN hamartoma tumor syndrome' 'Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus' SubClassOf 'vascular neoplasm' 'Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus' SubClassOf 'Genetic skin tumor' 'Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus' SubClassOf 'Overgrowth syndrome' 'Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus' SubClassOf 'cardiovascular organ benign neoplasm' 'Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus' SubClassOf 'Genetic vascular anomaly' 'Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus' SubClassOf 'melanocytic nevus' 'Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus' SubClassOf 'Genetic skin tumor' 'Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_52368 Mohr-Tranebjaerg syndrome 'Mohr-Tranebjaerg syndrome' SubClassOf 'Genetic neurodegenerative disease' 'Mohr-Tranebjaerg syndrome' SubClassOf 'eye degenerative disorder' 'Mohr-Tranebjaerg syndrome' SubClassOf 'X-linked deafness' 'Mohr-Tranebjaerg syndrome' SubClassOf 'X-linked recessive optic atrophy' 'Mohr-Tranebjaerg syndrome' SubClassOf 'Syndromic genetic deafness' 'Mohr-Tranebjaerg syndrome' SubClassOf 'syndromic hereditary optic neuropathy' 'Mohr-Tranebjaerg syndrome' SubClassOf 'Mitochondrial protein import disorder' 'Mohr-Tranebjaerg syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Mohr-Tranebjaerg syndrome' SubClassOf 'Genetic neurodegenerative disease' 'Mohr-Tranebjaerg syndrome' SubClassOf 'Syndromic genetic deafness' 'Mohr-Tranebjaerg syndrome' SubClassOf 'syndromic hereditary optic neuropathy' 'Mohr-Tranebjaerg syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 'Mohr-Tranebjaerg syndrome' SubClassOf 'Mitochondrial protein import disorder' http://www.orpha.net/ORDO/Orphanet_137625 Glycogen storage disease due to muscle and heart glycogen synthase deficiency 'Glycogen storage disease due to muscle and heart glycogen synthase deficiency' SubClassOf 'Glycogen storage disease' http://www.orpha.net/ORDO/Orphanet_137622 Intractable diarrhea - choanal atresia - eye anomalies 'Intractable diarrhea - choanal atresia - eye anomalies' SubClassOf 'nose and cavum anomaly' 'Intractable diarrhea - choanal atresia - eye anomalies' SubClassOf 'Genetic intractable diarrhea of infancy' 'Intractable diarrhea - choanal atresia - eye anomalies' SubClassOf 'genetic otorhinolaryngological malformation' 'Intractable diarrhea - choanal atresia - eye anomalies' SubClassOf 'Genetic intractable diarrhea of infancy' http://www.orpha.net/ORDO/Orphanet_137628 Cardiac anomalies - heterotaxy 'Cardiac anomalies - heterotaxy' SubClassOf 'heart disease' http://purl.obolibrary.org/obo/MONDO_0003710 ovarian mixed germ cell neoplasm 'ovarian mixed germ cell neoplasm' SubClassOf 'mixed germ cell tumor' 'ovarian mixed germ cell neoplasm' SubClassOf 'mixed germ cell tumor' http://www.orpha.net/ORDO/Orphanet_284993 Marfan and Marfan-related disorder 'Marfan and Marfan-related disorder' SubClassOf 'hereditary disorder of connective tissue' 'Marfan and Marfan-related disorder' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Marfan and Marfan-related disorder' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0006500 tubular adenocarcinoma 'tubular adenocarcinoma' SubClassOf 'adenocarcinoma' 'tubular adenocarcinoma' SubClassOf 'adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0003735 central nervous system immature teratoma 'central nervous system immature teratoma' SubClassOf 'central nervous system teratoma' 'central nervous system immature teratoma' SubClassOf 'central nervous system teratoma' http://purl.obolibrary.org/obo/MONDO_0015713 idiopathic central precocious puberty 'idiopathic central precocious puberty' SubClassOf 'central precocious puberty' 'idiopathic central precocious puberty' SubClassOf 'central precocious puberty' http://purl.obolibrary.org/obo/MONDO_0003751 childhood germ cell tumor 'childhood germ cell tumor' SubClassOf 'germ cell tumor' 'childhood germ cell tumor' SubClassOf 'childhood neoplasm' 'childhood germ cell tumor' SubClassOf 'germ cell tumor' 'childhood germ cell tumor' SubClassOf 'childhood neoplasm' http://purl.obolibrary.org/obo/MONDO_0003762 malignant leptomeningeal tumor 'malignant leptomeningeal tumor' SubClassOf 'malignant tumor of meninges' 'malignant leptomeningeal tumor' SubClassOf 'Meningioma' 'malignant leptomeningeal tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016642 'malignant leptomeningeal tumor' SubClassOf 'malignant tumor of meninges' http://www.ebi.ac.uk/efo/EFO_0006544 bladder transitional cell carcinoma 'bladder transitional cell carcinoma' SubClassOf 'urinary bladder carcinoma' 'bladder transitional cell carcinoma' SubClassOf 'urinary bladder carcinoma' http://purl.obolibrary.org/obo/MONDO_0015748 hereditary mucosal leukokeratosis 'hereditary mucosal leukokeratosis' SubClassOf 'Genetic skin tumor' 'hereditary mucosal leukokeratosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015950 http://www.orpha.net/ORDO/Orphanet_284963 Marfan syndrome type 1 'Marfan syndrome type 1' SubClassOf 'Marfan syndrome' 'Marfan syndrome type 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0001117 methemoglobinemia 'methemoglobinemia' SubClassOf 'inherited hemoglobinopathy' 'methemoglobinemia' SubClassOf 'Hemoglobinopathy' 'methemoglobinemia' SubClassOf 'anemia' 'methemoglobinemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044348 http://www.orpha.net/ORDO/Orphanet_353308 Pyruvate carboxylase deficiency, infantile form 'Pyruvate carboxylase deficiency, infantile form' SubClassOf 'pyruvate carboxylase deficiency disease' 'Pyruvate carboxylase deficiency, infantile form' SubClassOf 'Pyruvate carboxylase deficiency' 'Pyruvate carboxylase deficiency, infantile form' SubClassOf 'pyruvate carboxylase deficiency disease' http://www.orpha.net/ORDO/Orphanet_353314 Pyruvate carboxylase deficiency, severe neonatal type 'Pyruvate carboxylase deficiency, severe neonatal type' SubClassOf 'pyruvate carboxylase deficiency disease' 'Pyruvate carboxylase deficiency, severe neonatal type' SubClassOf 'Pyruvate carboxylase deficiency' 'Pyruvate carboxylase deficiency, severe neonatal type' SubClassOf 'pyruvate carboxylase deficiency disease' http://purl.obolibrary.org/obo/MONDO_0015758 primary cutaneous T-cell lymphoma 'primary cutaneous T-cell lymphoma' SubClassOf 'T-cell non-Hodgkin lymphoma' 'primary cutaneous T-cell lymphoma' SubClassOf 'T-cell non-Hodgkin lymphoma' http://purl.obolibrary.org/obo/MONDO_0015757 lymphoid hemopathy 'lymphoid hemopathy' SubClassOf 'Genetic tumor of hematopoietic and lymphoid tissues' 'lymphoid hemopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019044 http://purl.obolibrary.org/obo/MONDO_0015756 myeloid hemopathy 'myeloid hemopathy' SubClassOf 'Genetic tumor of hematopoietic and lymphoid tissues' 'myeloid hemopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019044 http://www.orpha.net/ORDO/Orphanet_284973 Marfan syndrome type 2 'Marfan syndrome type 2' SubClassOf 'Marfan syndrome' 'Marfan syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0007947 http://www.orpha.net/ORDO/Orphanet_284979 Neonatal Marfan syndrome 'Neonatal Marfan syndrome' SubClassOf 'Marfan syndrome' 'Neonatal Marfan syndrome' SubClassOf 'has modifier' some 'rare' 'Neonatal Marfan syndrome' SubClassOf 'vascular disease' 'Neonatal Marfan syndrome' SubClassOf 'Rare disease with thoracic aortic aneurysm and aortic dissection' 'Neonatal Marfan syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017310 http://purl.obolibrary.org/obo/MONDO_0003789 hereditary papillary renal cell carcinoma 'hereditary papillary renal cell carcinoma' SubClassOf 'papillary renal cell carcinoma' 'hereditary papillary renal cell carcinoma' SubClassOf 'papillary renal cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0003780 T-cell immunodeficiency 'T-cell immunodeficiency' SubClassOf 'immunodeficiency disease' 'T-cell immunodeficiency' SubClassOf 'immunodeficiency disease' http://www.orpha.net/ORDO/Orphanet_353327 Congenital myasthenic syndromes with glycosylation defect 'Congenital myasthenic syndromes with glycosylation defect' SubClassOf 'Congenital myasthenic syndromes' 'Congenital myasthenic syndromes with glycosylation defect' SubClassOf 'Disorder of protein N-glycosylation' 'Congenital myasthenic syndromes with glycosylation defect' SubClassOf 'congenital nervous system disorder' 'Congenital myasthenic syndromes with glycosylation defect' SubClassOf 'Congenital myasthenic syndromes' 'Congenital myasthenic syndromes with glycosylation defect' SubClassOf 'Disorder of protein N-glycosylation' http://www.orpha.net/ORDO/Orphanet_353320 Pyruvate carboxylase deficiency, benign type 'Pyruvate carboxylase deficiency, benign type' SubClassOf 'pyruvate carboxylase deficiency disease' 'Pyruvate carboxylase deficiency, benign type' SubClassOf 'Pyruvate carboxylase deficiency' 'Pyruvate carboxylase deficiency, benign type' SubClassOf 'pyruvate carboxylase deficiency disease' http://www.orpha.net/ORDO/Orphanet_284984 Aneurysm - osteoarthritis syndrome 'Aneurysm - osteoarthritis syndrome' SubClassOf 'Loeys-Dietz syndrome' 'Aneurysm - osteoarthritis syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017310 'Aneurysm - osteoarthritis syndrome' SubClassOf 'Rare disease with thoracic aortic aneurysm and aortic dissection' http://purl.obolibrary.org/obo/MONDO_0015760 T-cell non-Hodgkin lymphoma 'T-cell non-Hodgkin lymphoma' SubClassOf 'non-Hodgkins lymphoma' 'T-cell non-Hodgkin lymphoma' SubClassOf 'non-Hodgkins lymphoma' http://www.ebi.ac.uk/efo/EFO_0006471 pancreatic tubular adenocarcinoma 'pancreatic tubular adenocarcinoma' SubClassOf 'tubular adenocarcinoma' 'pancreatic tubular adenocarcinoma' SubClassOf 'tubular adenocarcinoma' http://www.orpha.net/ORDO/Orphanet_448267 regressive spondylometaphyseal dysplasia 'regressive spondylometaphyseal dysplasia' SubClassOf 'Spondylometaphyseal dysplasia' 'regressive spondylometaphyseal dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0040500 glycosylphosphatidylinositol biosynthesis defect 16 'glycosylphosphatidylinositol biosynthesis defect 16' SubClassOf 'Disorder of lipid metabolism' 'glycosylphosphatidylinositol biosynthesis defect 16' SubClassOf 'Autosomal recessive non-syndromic intellectual disability' 'glycosylphosphatidylinositol biosynthesis defect 16' SubClassOf 'Congenital disorder of glycosylation' 'glycosylphosphatidylinositol biosynthesis defect 16' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002525 'glycosylphosphatidylinositol biosynthesis defect 16' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015286 'glycosylphosphatidylinositol biosynthesis defect 16' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019502 http://www.ebi.ac.uk/efo/EFO_0006462 ovarian mucinous adenocarcinoma 'ovarian mucinous adenocarcinoma' SubClassOf 'ovarian adenocarcinoma' 'ovarian mucinous adenocarcinoma' SubClassOf 'mucinous carcinoma' 'ovarian mucinous adenocarcinoma' SubClassOf 'ovarian adenocarcinoma' 'ovarian mucinous adenocarcinoma' SubClassOf 'mucinous carcinoma' http://www.ebi.ac.uk/efo/EFO_0006460 ovarian adenocarcinoma 'ovarian adenocarcinoma' SubClassOf 'ovarian carcinoma' 'ovarian adenocarcinoma' SubClassOf 'adenocarcinoma' 'ovarian adenocarcinoma' SubClassOf 'ovarian carcinoma' 'ovarian adenocarcinoma' SubClassOf 'adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0003561 malignant giant cell tumor of soft parts 'malignant giant cell tumor of soft parts' SubClassOf 'undifferentiated pleomorphic sarcoma' 'malignant giant cell tumor of soft parts' SubClassOf 'malignant giant cell tumor' 'malignant giant cell tumor of soft parts' SubClassOf 'undifferentiated pleomorphic sarcoma' 'malignant giant cell tumor of soft parts' SubClassOf 'malignant giant cell tumor' http://purl.obolibrary.org/obo/MONDO_0015542 secondary hemophagocytic lymphohistiocytosis 'secondary hemophagocytic lymphohistiocytosis' SubClassOf 'hemophagocytic syndrome' 'secondary hemophagocytic lymphohistiocytosis' SubClassOf 'hemophagocytic syndrome' http://purl.obolibrary.org/obo/MONDO_0015540 hemophagocytic syndrome 'hemophagocytic syndrome' SubClassOf 'syndromic disease' 'hemophagocytic syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0015564 Castleman disease 'Castleman disease' SubClassOf 'Lymphoproliferative syndrome' 'Castleman disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016537 http://purl.obolibrary.org/obo/MONDO_0040566 inherited glutathione metabolism disease 'inherited glutathione metabolism disease' SubClassOf 'Disorder of the gamma-glutamyl cycle' 'inherited glutathione metabolism disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019241 http://www.orpha.net/ORDO/Orphanet_235936 Familial hyperaldosteronism 'Familial hyperaldosteronism' SubClassOf 'has modifier' some 'rare' 'Familial hyperaldosteronism' SubClassOf 'primary aldosteronism' 'Familial hyperaldosteronism' SubClassOf 'Rare genetic adrenal disease' 'Familial hyperaldosteronism' EquivalentTo 'hyperaldosteronism' and ('has modifier' some 'inherited') 'Familial hyperaldosteronism' SubClassOf 'hyperaldosteronism' 'Familial hyperaldosteronism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_64280 Childhood absence epilepsy 'Childhood absence epilepsy' SubClassOf 'Childhood-onset epilepsy syndrome' 'Childhood absence epilepsy' SubClassOf 'childhood electroclinical syndrome' 'Childhood absence epilepsy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017704 'Childhood absence epilepsy' SubClassOf 'movement disorder' http://purl.obolibrary.org/obo/MONDO_0003603 non-functioning pituitary gland neoplasm 'non-functioning pituitary gland neoplasm' SubClassOf 'non-functioning endocrine neoplasm' 'non-functioning pituitary gland neoplasm' SubClassOf 'non-functioning endocrine neoplasm' http://purl.obolibrary.org/obo/MONDO_0003604 functioning pituitary gland neoplasm 'functioning pituitary gland neoplasm' SubClassOf 'functioning endocrine neoplasm' 'functioning pituitary gland neoplasm' SubClassOf 'functioning endocrine neoplasm' http://purl.obolibrary.org/obo/MONDO_0003607 neuritis of upper limb 'neuritis of upper limb' SubClassOf 'limb disorder' http://www.orpha.net/ORDO/Orphanet_269215 Isolated Dandy-Walker malformation without hydrocephalus 'Isolated Dandy-Walker malformation without hydrocephalus' SubClassOf 'Isolated Dandy-Walker malformation' 'Isolated Dandy-Walker malformation without hydrocephalus' SubClassOf 'Dandy-Walker syndrome' 'Isolated Dandy-Walker malformation without hydrocephalus' SubClassOf 'Dandy-Walker syndrome' http://www.orpha.net/ORDO/Orphanet_269212 Isolated Dandy-Walker malformation with hydrocephalus 'Isolated Dandy-Walker malformation with hydrocephalus' SubClassOf 'Dandy-Walker syndrome' 'Isolated Dandy-Walker malformation with hydrocephalus' SubClassOf 'Isolated Dandy-Walker malformation' 'Isolated Dandy-Walker malformation with hydrocephalus' SubClassOf 'Dandy-Walker syndrome' http://purl.obolibrary.org/obo/MONDO_0015619 non-syndromic urogenital tract malformation 'non-syndromic urogenital tract malformation' EquivalentTo 'Genetic urogenital tract malformation' and ('has modifier' some 'has an isolated presentation') 'non-syndromic urogenital tract malformation' SubClassOf 'Genetic urogenital tract malformation' 'non-syndromic urogenital tract malformation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019356 'non-syndromic urogenital tract malformation' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0019356 and ('has modifier' some 'has an isolated presentation') http://purl.obolibrary.org/obo/MONDO_0003641 central nervous system hematopoietic neoplasm 'central nervous system hematopoietic neoplasm' SubClassOf 'Central Nervous System Neoplasm' 'central nervous system hematopoietic neoplasm' SubClassOf 'Central Nervous System Neoplasm' http://www.orpha.net/ORDO/Orphanet_412206 Primary failure of tooth eruption 'Primary failure of tooth eruption' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0006452 malignant epithelioid mesothelioma 'malignant epithelioid mesothelioma' SubClassOf 'Malignant Mesothelioma' 'malignant epithelioid mesothelioma' SubClassOf 'Malignant Mesothelioma' http://purl.obolibrary.org/obo/MONDO_0003438 combined small cell lung carcinoma 'combined small cell lung carcinoma' SubClassOf 'small cell lung carcinoma' 'combined small cell lung carcinoma' SubClassOf 'small cell lung carcinoma' http://www.orpha.net/ORDO/Orphanet_231013 Congenital trigeminal anesthesia 'Congenital trigeminal anesthesia' SubClassOf 'Genetic neuro-ophthalmological disease' 'Congenital trigeminal anesthesia' SubClassOf 'congenital nervous system disorder' 'Congenital trigeminal anesthesia' SubClassOf 'Genetic peripheral neuropathy' 'Congenital trigeminal anesthesia' SubClassOf 'Genetic neuro-ophthalmological disease' 'Congenital trigeminal anesthesia' SubClassOf 'Genetic peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0027407 Kleefstra syndrome 1 'Kleefstra syndrome 1' SubClassOf 'Kleefstra syndrome' 'Kleefstra syndrome 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0012455 http://purl.obolibrary.org/obo/MONDO_0003446 papillary hidradenoma 'papillary hidradenoma' SubClassOf 'hidradenoma' 'papillary hidradenoma' SubClassOf 'hidradenoma' http://purl.obolibrary.org/obo/MONDO_0003443 papillary urothelial neoplasm 'papillary urothelial neoplasm' SubClassOf 'papillary epithelial neoplasm' 'papillary urothelial neoplasm' SubClassOf 'papillary epithelial neoplasm' http://www.ebi.ac.uk/efo/EFO_0004194 IGA glomerulonephritis 'IGA glomerulonephritis' SubClassOf 'glomerulonephritis' 'IGA glomerulonephritis' SubClassOf 'glomerulonephritis' http://purl.obolibrary.org/obo/MONDO_0003453 conjunctival intraepithelial neoplasm 'conjunctival intraepithelial neoplasm' SubClassOf 'Conjunctival tumor' 'conjunctival intraepithelial neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020204 http://purl.obolibrary.org/obo/MONDO_0003454 conjunctival cancer 'conjunctival cancer' SubClassOf 'Rare genetic neurological disorder' 'conjunctival cancer' SubClassOf 'Conjunctival tumor' 'conjunctival cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020204 http://www.ebi.ac.uk/efo/EFO_0004197 hepatitis B virus infection 'hepatitis B virus infection' SubClassOf 'viral human hepatitis infection' 'hepatitis B virus infection' SubClassOf 'viral human hepatitis infection' http://www.ebi.ac.uk/efo/EFO_0004198 skin neoplasm 'skin neoplasm' SubClassOf 'neoplasm' 'skin neoplasm' SubClassOf 'neoplasm' http://www.orpha.net/ORDO/Orphanet_231031 Erythema palmaris hereditarium 'Erythema palmaris hereditarium' SubClassOf 'skin disease' 'Erythema palmaris hereditarium' SubClassOf 'genetic skin disease' http://www.ebi.ac.uk/efo/EFO_0004191 androgenetic alopecia 'androgenetic alopecia' SubClassOf 'genetic alopecia' 'androgenetic alopecia' SubClassOf 'Alopecia' http://www.ebi.ac.uk/efo/EFO_0004192 alopecia areata 'alopecia areata' SubClassOf 'Alopecia' 'alopecia areata' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004907 'alopecia areata' SubClassOf 'Alopecia' http://purl.obolibrary.org/obo/MONDO_0003478 childhood ependymoma 'childhood ependymoma' SubClassOf 'ependymoma' 'childhood ependymoma' SubClassOf 'ependymoma' http://www.orpha.net/ORDO/Orphanet_231040 Familial generalized lentiginosis 'Familial generalized lentiginosis' SubClassOf 'Genetic hyperpigmentation of the skin' 'Familial generalized lentiginosis' SubClassOf 'Genetic hyperpigmentation of the skin' http://www.orpha.net/ORDO/Orphanet_52503 X-linked creatine transporter deficiency 'X-linked creatine transporter deficiency' SubClassOf 'Disorder of creatine biosynthesis' 'X-linked creatine transporter deficiency' SubClassOf 'Developmental anomaly of metabolic origin' 'X-linked creatine transporter deficiency' SubClassOf 'Neurometabolic disease' 'X-linked creatine transporter deficiency' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked creatine transporter deficiency' SubClassOf 'cerebral creatine deficiency syndrome' 'X-linked creatine transporter deficiency' SubClassOf 'congenital nervous system disorder' 'X-linked creatine transporter deficiency' SubClassOf 'Neurometabolic disease' 'X-linked creatine transporter deficiency' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked creatine transporter deficiency' SubClassOf 'cerebral creatine deficiency syndrome' http://www.orpha.net/ORDO/Orphanet_306750 Primary myoclonus 'Primary myoclonus' SubClassOf 'has modifier' some 'rare' 'Primary myoclonus' SubClassOf 'movement disorder' 'Primary myoclonus' SubClassOf 'Rare genetic myoclonus' 'Primary myoclonus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_208650 Cryopyrin-associated periodic syndrome 'Cryopyrin-associated periodic syndrome' SubClassOf 'Hereditary periodic fever syndrome' 'Cryopyrin-associated periodic syndrome' SubClassOf 'Hereditary periodic fever syndrome' http://www.orpha.net/ORDO/Orphanet_306734 Primary dystonia, DYT21 type 'Primary dystonia, DYT21 type' SubClassOf 'Generalized isolated dystonia' 'Primary dystonia, DYT21 type' SubClassOf 'Generalized isolated dystonia' http://www.orpha.net/ORDO/Orphanet_306719 Neurodegenerative disease with chorea 'Neurodegenerative disease with chorea' SubClassOf 'Genetic neurodegenerative disease' 'Neurodegenerative disease with chorea' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024237 http://www.orpha.net/ORDO/Orphanet_52530 Pseudo-von Willebrand disease 'Pseudo-von Willebrand disease' SubClassOf 'Rare hemorrhagic disorder due to a platelet receptor defect' 'Pseudo-von Willebrand disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_137871 Laminopathy type Decaudain-Vigouroux 'Laminopathy type Decaudain-Vigouroux' SubClassOf 'diabetes mellitus' 'Laminopathy type Decaudain-Vigouroux' SubClassOf 'has modifier' some 'rare' 'Laminopathy type Decaudain-Vigouroux' SubClassOf 'familial hyperlipidemia' 'Laminopathy type Decaudain-Vigouroux' SubClassOf 'hyperlipidemia' http://www.orpha.net/ORDO/Orphanet_137888 Auriculocondylar syndrome 'Auriculocondylar syndrome' SubClassOf 'ear malformation' 'Auriculocondylar syndrome' SubClassOf 'Oculo-auriculo-vertebral spectrum' 'Auriculocondylar syndrome' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Auriculocondylar syndrome' SubClassOf 'Oculo-auriculo-vertebral spectrum' http://www.orpha.net/ORDO/Orphanet_64542 Acrofacial dysostosis, Kennedy-Teebi type 'Acrofacial dysostosis, Kennedy-Teebi type' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Acrofacial dysostosis, Kennedy-Teebi type' SubClassOf 'Acrofacial dysostosis' 'Acrofacial dysostosis, Kennedy-Teebi type' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Acrofacial dysostosis, Kennedy-Teebi type' SubClassOf 'Acrofacial dysostosis' http://www.orpha.net/ORDO/Orphanet_137898 Leukoencephalopathy with brain stem and spinal cord involvement - high lactate 'Leukoencephalopathy with brain stem and spinal cord involvement - high lactate' SubClassOf 'Leukodystrophy' 'Leukoencephalopathy with brain stem and spinal cord involvement - high lactate' SubClassOf 'Leukodystrophy' http://www.orpha.net/ORDO/Orphanet_137893 Male infertility due to large-headed multiflagellar polyploid spermatozoa 'Male infertility due to large-headed multiflagellar polyploid spermatozoa' SubClassOf 'Male infertility with teratozoospermia due to single gene mutation' 'Male infertility due to large-headed multiflagellar polyploid spermatozoa' SubClassOf 'azoospermia' 'Male infertility due to large-headed multiflagellar polyploid spermatozoa' SubClassOf 'Male infertility with teratozoospermia due to single gene mutation' http://www.orpha.net/ORDO/Orphanet_137834 Frank-Ter Haar syndrome 'Frank-Ter Haar syndrome' SubClassOf 'Frontootopalatodigital syndrome' 'Frank-Ter Haar syndrome' SubClassOf 'otopalatodigital syndrome spectrum disorder' 'Frank-Ter Haar syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0006719 mesonephric adenocarcinoma 'mesonephric adenocarcinoma' SubClassOf 'adenocarcinoma' 'mesonephric adenocarcinoma' SubClassOf 'adenocarcinoma' http://www.orpha.net/ORDO/Orphanet_137831 X-linked intellectual disability - cerebellar hypoplasia 'X-linked intellectual disability - cerebellar hypoplasia' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'X-linked intellectual disability - cerebellar hypoplasia' SubClassOf 'central nervous system malformation' 'X-linked intellectual disability - cerebellar hypoplasia' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability - cerebellar hypoplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 http://www.ebi.ac.uk/efo/EFO_0006732 pancreatic adenosquamous carcinoma 'pancreatic adenosquamous carcinoma' SubClassOf 'Adenosquamous Carcinoma' 'pancreatic adenosquamous carcinoma' SubClassOf 'Adenosquamous Carcinoma' http://www.orpha.net/ORDO/Orphanet_306762 Progressive epilepsy and/or ataxia with myoclonus as a major feature 'Progressive epilepsy and/or ataxia with myoclonus as a major feature' SubClassOf 'Epilepsy and/or ataxia with myoclonus as major feature' 'Progressive epilepsy and/or ataxia with myoclonus as a major feature' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_306765 Motor stereotypies 'Motor stereotypies' SubClassOf 'movement disorder' 'Motor stereotypies' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_137867 Madras motor neuron disease 'Madras motor neuron disease' SubClassOf 'Genetic motor neuron disease' 'Madras motor neuron disease' SubClassOf 'motor neuron disease' 'Madras motor neuron disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0006740 pulmonary mucoepidermoid carcinoma 'pulmonary mucoepidermoid carcinoma' SubClassOf 'mucoepidermoid carcinoma' 'pulmonary mucoepidermoid carcinoma' SubClassOf 'mucoepidermoid carcinoma' http://www.ebi.ac.uk/efo/EFO_0006772 undifferentiated carcinoma 'undifferentiated carcinoma' SubClassOf 'carcinoma' 'undifferentiated carcinoma' SubClassOf 'carcinoma' http://purl.obolibrary.org/obo/MONDO_0003500 squamous cell bile duct carcinoma 'squamous cell bile duct carcinoma' SubClassOf 'bile duct carcinoma' 'squamous cell bile duct carcinoma' SubClassOf 'bile duct carcinoma' http://www.orpha.net/ORDO/Orphanet_269560 Genetic cerebellar malformation 'Genetic cerebellar malformation' SubClassOf 'Genetic posterior fossa malformation' 'Genetic cerebellar malformation' SubClassOf 'Genetic posterior fossa malformation' http://www.ebi.ac.uk/efo/EFO_0006792 Lewy body dementia 'Lewy body dementia' SubClassOf 'Genetic dementia' 'Lewy body dementia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015547 http://www.ebi.ac.uk/efo/EFO_0006790 cerebral amyloid angiopathy 'cerebral amyloid angiopathy' SubClassOf 'Genetic cerebrovascular dementia' 'cerebral amyloid angiopathy' SubClassOf 'cerebrovascular disorder' 'cerebral amyloid angiopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020144 'cerebral amyloid angiopathy' SubClassOf 'cerebrovascular disorder' 'cerebral amyloid angiopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015547 http://www.ebi.ac.uk/efo/EFO_0006795 serum VEGFR2 concentration measurement 'serum VEGFR2 concentration measurement' SubClassOf 'is_about' some 'Familial capillary hemangioma' 'serum VEGFR2 concentration measurement' SubClassOf 'measurement' 'serum VEGFR2 concentration measurement' SubClassOf 'is_about' some http://purl.obolibrary.org/obo/MONDO_0011191 'serum VEGFR2 concentration measurement' SubClassOf 'cardiovascular disease biomarker measurement' http://purl.obolibrary.org/obo/MONDO_0003510 malignant testicular germ cell tumor 'malignant testicular germ cell tumor' SubClassOf 'Malignant Germ Cell Tumor' 'malignant testicular germ cell tumor' SubClassOf 'Testicular Germ Cell Tumor' 'malignant testicular germ cell tumor' SubClassOf 'testicular carcinoma' 'malignant testicular germ cell tumor' SubClassOf 'Malignant Germ Cell Tumor' 'malignant testicular germ cell tumor' SubClassOf 'Testicular Germ Cell Tumor' 'malignant testicular germ cell tumor' SubClassOf 'testicular carcinoma' http://www.ebi.ac.uk/efo/EFO_0004126 Adie syndrome 'Adie syndrome' SubClassOf 'syndromic disease' 'Adie syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0004129 familial amyloid neuropathy 'familial amyloid neuropathy' SubClassOf 'Familial transthyretin-related amyloidosis' 'familial amyloid neuropathy' SubClassOf 'Genetic peripheral neuropathy' 'familial amyloid neuropathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017132 'familial amyloid neuropathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020127 http://purl.obolibrary.org/obo/MONDO_0003531 papillary eccrine carcinoma 'papillary eccrine carcinoma' SubClassOf 'papillary adenocarcinoma' 'papillary eccrine carcinoma' SubClassOf 'eccrine carcinoma' 'papillary eccrine carcinoma' SubClassOf 'papillary adenocarcinoma' 'papillary eccrine carcinoma' SubClassOf 'eccrine carcinoma' http://purl.obolibrary.org/obo/MONDO_0003541 adult acute lymphoblastic leukemia 'adult acute lymphoblastic leukemia' SubClassOf 'acute lymphoblastic leukemia' 'adult acute lymphoblastic leukemia' SubClassOf 'acute lymphoblastic leukemia' http://www.ebi.ac.uk/efo/EFO_0004143 carpal tunnel syndrome 'carpal tunnel syndrome' SubClassOf 'Genetic peripheral neuropathy' 'carpal tunnel syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020127 http://purl.obolibrary.org/obo/MONDO_0017955 granulomatous autoinflammatory syndrome 'granulomatous autoinflammatory syndrome' SubClassOf 'autoinflammatory syndrome' 'granulomatous autoinflammatory syndrome' SubClassOf 'autoinflammatory syndrome' http://purl.obolibrary.org/obo/MONDO_0017954 pyogenic autoinflammatory syndrome 'pyogenic autoinflammatory syndrome' SubClassOf 'autoinflammatory syndrome' 'pyogenic autoinflammatory syndrome' SubClassOf 'autoinflammatory syndrome' http://www.orpha.net/ORDO/Orphanet_208596 Genetic hyperparathyroidism 'Genetic hyperparathyroidism' EquivalentTo 'hyperparathyroidism' and ('has modifier' some 'inherited') 'Genetic hyperparathyroidism' SubClassOf 'hyperparathyroidism' 'Genetic hyperparathyroidism' SubClassOf 'Inborn errors of metabolism' 'Genetic hyperparathyroidism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019052 'Genetic hyperparathyroidism' SubClassOf 'parathyroid disease' http://www.orpha.net/ORDO/Orphanet_208593 Genetic hypoparathyroidism 'Genetic hypoparathyroidism' SubClassOf 'Inborn errors of metabolism' 'Genetic hypoparathyroidism' SubClassOf 'hypoparathyroidism' 'Genetic hypoparathyroidism' EquivalentTo 'hypoparathyroidism' and ('has modifier' some 'inherited') 'Genetic hypoparathyroidism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016165 http://www.orpha.net/ORDO/Orphanet_269510 Congenital non-communicating hydrocephalus 'Congenital non-communicating hydrocephalus' SubClassOf 'Congenital hydrocephalus' 'Congenital non-communicating hydrocephalus' SubClassOf 'Congenital hydrocephalus' http://purl.obolibrary.org/obo/MONDO_0030922 intellectual disability, autosomal dominant 56 'intellectual disability, autosomal dominant 56' SubClassOf 'Autosomal dominant non-syndromic intellectual disability' 'intellectual disability, autosomal dominant 56' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015802 http://purl.obolibrary.org/obo/MONDO_0003321 hereditary Wilms tumor 'hereditary Wilms tumor' SubClassOf 'Genetic renal tumor' 'hereditary Wilms tumor' EquivalentTo 'Nephroblastoma' and ('has modifier' some 'inherited') 'hereditary Wilms tumor' SubClassOf 'kidney cancer' 'hereditary Wilms tumor' SubClassOf 'embryonal neoplasm' 'hereditary Wilms tumor' SubClassOf 'kidney Wilms tumor' 'hereditary Wilms tumor' SubClassOf 'Malignant Mixed Neoplasm' 'hereditary Wilms tumor' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0006058 and ('has modifier' some 'inherited') 'hereditary Wilms tumor' SubClassOf 'genetic disorder' 'hereditary Wilms tumor' SubClassOf 'kidney Wilms tumor' http://www.orpha.net/ORDO/Orphanet_269505 Congenital communicating hydrocephalus 'Congenital communicating hydrocephalus' SubClassOf 'Congenital hydrocephalus' 'Congenital communicating hydrocephalus' SubClassOf 'Congenital hydrocephalus' http://purl.obolibrary.org/obo/MONDO_0003334 demyelinating polyneuropathy 'demyelinating polyneuropathy' SubClassOf 'polyneuropathy' 'demyelinating polyneuropathy' SubClassOf 'polyneuropathy' http://purl.obolibrary.org/obo/MONDO_0003335 chronic polyneuropathy 'chronic polyneuropathy' SubClassOf 'polyneuropathy' 'chronic polyneuropathy' SubClassOf 'polyneuropathy' http://purl.obolibrary.org/obo/MONDO_0017985 congenital radioulnar synostosis 'congenital radioulnar synostosis' SubClassOf 'Joint formation defects' 'congenital radioulnar synostosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017429 http://purl.obolibrary.org/obo/MONDO_0017986 disorder of plasmalogens biosynthesis 'disorder of plasmalogens biosynthesis' SubClassOf 'Disorder of lipid metabolism' 'disorder of plasmalogens biosynthesis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002525 http://www.orpha.net/ORDO/Orphanet_269557 Genetic posterior fossa malformation 'Genetic posterior fossa malformation' SubClassOf 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0042968 partial duplication of chromosome 12 'partial duplication of chromosome 12' SubClassOf 'Partial autosomal trisomy/tetrasomy' 'partial duplication of chromosome 12' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020052 http://purl.obolibrary.org/obo/MONDO_0015333 progeroid syndrome 'progeroid syndrome' SubClassOf 'Premature aging' 'progeroid syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019303 http://www.orpha.net/ORDO/Orphanet_269550 Genetic non-syndromic central nervous system malformation 'Genetic non-syndromic central nervous system malformation' SubClassOf 'has modifier' some 'has an isolated presentation' 'Genetic non-syndromic central nervous system malformation' EquivalentTo 'central nervous system malformation' and ('has modifier' some 'has an isolated presentation') 'Genetic non-syndromic central nervous system malformation' SubClassOf 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0017992 autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis 'autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis' SubClassOf 'Primary immunodeficiency due to a defect in adaptive immunity' 'autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis' SubClassOf 'Primary immunodeficiency due to a defect in innate immunity' 'autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015135 'autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015823 http://purl.obolibrary.org/obo/MONDO_0015346 Jeavons syndrome 'Jeavons syndrome' SubClassOf 'Childhood-onset epilepsy syndrome' 'Jeavons syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020072 http://purl.obolibrary.org/obo/MONDO_0015344 idiopathic acute transverse myelitis 'idiopathic acute transverse myelitis' SubClassOf 'acute transverse myelitis' 'idiopathic acute transverse myelitis' SubClassOf 'acute transverse myelitis' http://www.orpha.net/ORDO/Orphanet_208513 Spinocerebellar ataxia type 29 'Spinocerebellar ataxia type 29' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 29' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' http://purl.obolibrary.org/obo/MONDO_0003393 thymus gland disorder 'thymus gland disorder' SubClassOf 'thoracic disorder' http://www.orpha.net/ORDO/Orphanet_137678 Czech dysplasia, metatarsal type 'Czech dysplasia, metatarsal type' SubClassOf 'type 2 collagenopathy' 'Czech dysplasia, metatarsal type' SubClassOf 'hereditary disorder of connective tissue' 'Czech dysplasia, metatarsal type' SubClassOf 'Type 2 collagen-related bone disorder' 'Czech dysplasia, metatarsal type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Czech dysplasia, metatarsal type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_137675 Histiocytoid cardiomyopathy 'Histiocytoid cardiomyopathy' SubClassOf 'Genetic cardiac rhythm disease' 'Histiocytoid cardiomyopathy' SubClassOf 'inborn mitochondrial metabolism disorder' 'Histiocytoid cardiomyopathy' SubClassOf 'Genetic cardiac rhythm disease' http://www.orpha.net/ORDO/Orphanet_52429 Branchio-otic syndrome 'Branchio-otic syndrome' SubClassOf 'congenital nervous system disorder' 'Branchio-otic syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Branchio-otic syndrome' SubClassOf 'Syndromic genetic deafness' 'Branchio-otic syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Branchio-otic syndrome' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_52427 Retinitis punctata albescens 'Retinitis punctata albescens' SubClassOf 'Fundus albipunctatus' 'Retinitis punctata albescens' SubClassOf 'Familial flecked retinopathy' http://www.orpha.net/ORDO/Orphanet_52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia 'Inclusion body myopathy with Paget disease of bone and frontotemporal dementia' SubClassOf 'syndromic disease' 'Inclusion body myopathy with Paget disease of bone and frontotemporal dementia' SubClassOf 'Inclusion myopathy' 'Inclusion body myopathy with Paget disease of bone and frontotemporal dementia' SubClassOf 'Frontotemporal dementia' 'Inclusion body myopathy with Paget disease of bone and frontotemporal dementia' SubClassOf 'Inclusion myopathy' http://www.orpha.net/ORDO/Orphanet_137681 Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 'Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1' SubClassOf 'has modifier' some 'rare' 'Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1' SubClassOf 'combined oxidative phosphorylation deficiency' http://www.orpha.net/ORDO/Orphanet_353217 Epileptic encephalopathy with global cerebral demyelination 'Epileptic encephalopathy with global cerebral demyelination' SubClassOf 'Mitochondrial substrate carrier disorder' 'Epileptic encephalopathy with global cerebral demyelination' SubClassOf 'neonatal-onset developmental and epileptic encephalopathy' 'Epileptic encephalopathy with global cerebral demyelination' SubClassOf 'Neonatal epilepsy syndrome' 'Epileptic encephalopathy with global cerebral demyelination' SubClassOf 'Mitochondrial substrate carrier disorder' http://www.orpha.net/ORDO/Orphanet_137754 Neurological conditions associated with aminoacylase 1 deficiency 'Neurological conditions associated with aminoacylase 1 deficiency' SubClassOf 'inherited amino acid metabolic disorder' 'Neurological conditions associated with aminoacylase 1 deficiency' SubClassOf 'Aminoacylase deficiency' 'Neurological conditions associated with aminoacylase 1 deficiency' SubClassOf 'Neurometabolic disease' 'Neurological conditions associated with aminoacylase 1 deficiency' SubClassOf 'Aminoacylase deficiency' 'Neurological conditions associated with aminoacylase 1 deficiency' SubClassOf 'Neurometabolic disease' http://www.orpha.net/ORDO/Orphanet_353220 Familial primary localized cutaneous amyloidosis 'Familial primary localized cutaneous amyloidosis' SubClassOf 'primary cutaneous amyloidosis' 'Familial primary localized cutaneous amyloidosis' SubClassOf 'Genetic dermis disorder' 'Familial primary localized cutaneous amyloidosis' SubClassOf 'genetic skin disease' 'Familial primary localized cutaneous amyloidosis' EquivalentTo 'primary cutaneous amyloidosis' and ('has modifier' some 'inherited') 'Familial primary localized cutaneous amyloidosis' SubClassOf 'hereditary amyloidosis' 'Familial primary localized cutaneous amyloidosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019276 http://www.orpha.net/ORDO/Orphanet_316244 Partial deletion of the short arm of chromosome 12 'Partial deletion of the short arm of chromosome 12' SubClassOf 'Partial deletion of chromosome 12' 'Partial deletion of the short arm of chromosome 12' SubClassOf 'Partial deletion of chromosome 12' http://www.orpha.net/ORDO/Orphanet_137776 Lethal congenital contracture syndrome type 2 'Lethal congenital contracture syndrome type 2' SubClassOf 'Lethal congenital contracture syndrome' 'Lethal congenital contracture syndrome type 2' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Lethal congenital contracture syndrome type 2' SubClassOf 'Lethal congenital contracture syndrome' 'Lethal congenital contracture syndrome type 2' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_316240 Autosomal recessive spastic ataxia 'Autosomal recessive spastic ataxia' SubClassOf 'Spastic ataxia' 'Autosomal recessive spastic ataxia' SubClassOf 'autosomal recessive disease' 'Autosomal recessive spastic ataxia' SubClassOf 'Spastic ataxia' http://www.orpha.net/ORDO/Orphanet_137783 Lethal congenital contracture syndrome type 3 'Lethal congenital contracture syndrome type 3' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Lethal congenital contracture syndrome type 3' SubClassOf 'Lethal congenital contracture syndrome' 'Lethal congenital contracture syndrome type 3' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Lethal congenital contracture syndrome type 3' SubClassOf 'Lethal congenital contracture syndrome' http://www.orpha.net/ORDO/Orphanet_316226 Spastic ataxia 'Spastic ataxia' SubClassOf 'hereditary ataxia' http://www.orpha.net/ORDO/Orphanet_316235 Autosomal dominant spastic ataxia 'Autosomal dominant spastic ataxia' SubClassOf 'Spastic ataxia' 'Autosomal dominant spastic ataxia' SubClassOf 'autosomal dominant disease' 'Autosomal dominant spastic ataxia' SubClassOf 'Spastic ataxia' http://www.orpha.net/ORDO/Orphanet_353277 Rubinstein-Taybi syndrome due to CREBBP mutations 'Rubinstein-Taybi syndrome due to CREBBP mutations' SubClassOf 'Rubinstein-Taybi syndrome' 'Rubinstein-Taybi syndrome due to CREBBP mutations' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_208508 Autosomal dominant cerebellar ataxia type 2 'Autosomal dominant cerebellar ataxia type 2' SubClassOf 'Autosomal dominant cerebellar ataxia' 'Autosomal dominant cerebellar ataxia type 2' SubClassOf 'Autosomal dominant cerebellar ataxia' http://www.orpha.net/ORDO/Orphanet_353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 'Rubinstein-Taybi syndrome due to EP300 haploinsufficiency' SubClassOf 'Rubinstein-Taybi syndrome' 'Rubinstein-Taybi syndrome due to EP300 haploinsufficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion 'Rubinstein-Taybi syndrome due to 16p13.3 microdeletion' SubClassOf 'chromosome 16p13.3 deletion syndrome' 'Rubinstein-Taybi syndrome due to 16p13.3 microdeletion' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0003403 testicular non-seminomatous germ cell cancer 'testicular non-seminomatous germ cell cancer' SubClassOf 'Testicular Non-Seminomatous Germ Cell Tumor' 'testicular non-seminomatous germ cell cancer' SubClassOf 'Testicular Non-Seminomatous Germ Cell Tumor' http://www.orpha.net/ORDO/Orphanet_294415 Renal-hepatic-pancreatic dysplasia 'Renal-hepatic-pancreatic dysplasia' SubClassOf 'Familial cystic renal disease' 'Renal-hepatic-pancreatic dysplasia' SubClassOf 'Syndromic visceral malformation' 'Renal-hepatic-pancreatic dysplasia' SubClassOf 'Syndromic visceral malformation' http://purl.obolibrary.org/obo/MONDO_0015405 cerebrofacial arteriovenous metameric syndrome 'cerebrofacial arteriovenous metameric syndrome' SubClassOf 'Genetic neurovascular malformation' 'cerebrofacial arteriovenous metameric syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015145 http://purl.obolibrary.org/obo/MONDO_0003429 functioning pituitary gland adenoma 'functioning pituitary gland adenoma' SubClassOf 'Pituitary Gland Adenoma' 'functioning pituitary gland adenoma' SubClassOf 'Pituitary Gland Adenoma' http://www.orpha.net/ORDO/Orphanet_255229 Navajo neurohepatopathy 'Navajo neurohepatopathy' SubClassOf 'Mitochondrial DNA depletion syndrome, hepatocerebral form' 'Navajo neurohepatopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0003204 villous adenocarcinoma 'villous adenocarcinoma' SubClassOf 'adenocarcinoma' 'villous adenocarcinoma' SubClassOf 'adenocarcinoma' http://www.orpha.net/ORDO/Orphanet_255235 Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy' SubClassOf 'Mitochondrial DNA depletion syndrome, encephalomyopathic form' 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy' SubClassOf 'Mitochondrial DNA depletion syndrome, encephalomyopathic form' http://www.orpha.net/ORDO/Orphanet_231249 Hemoglobin E - beta-thalassemia 'Hemoglobin E - beta-thalassemia' SubClassOf 'Beta-thalassemia and related diseases' http://purl.obolibrary.org/obo/MONDO_0003200 urethra adenocarcinoma 'urethra adenocarcinoma' SubClassOf 'adenocarcinoma' 'urethra adenocarcinoma' SubClassOf 'carcinoma of urethra' 'urethra adenocarcinoma' SubClassOf 'adenocarcinoma' 'urethra adenocarcinoma' SubClassOf 'carcinoma of urethra' http://www.orpha.net/ORDO/Orphanet_231242 Hemoglobin C - beta-thalassemia 'Hemoglobin C - beta-thalassemia' SubClassOf 'Beta-thalassemia and related diseases' http://www.orpha.net/ORDO/Orphanet_280200 Microform holoprosencephaly 'Microform holoprosencephaly' SubClassOf 'Midline cerebral malformation' http://purl.obolibrary.org/obo/MONDO_0003215 apocrine sweat gland cancer 'apocrine sweat gland cancer' SubClassOf 'apocrine sweat gland neoplasm' 'apocrine sweat gland cancer' SubClassOf 'sweat gland cancer' 'apocrine sweat gland cancer' SubClassOf 'apocrine sweat gland neoplasm' 'apocrine sweat gland cancer' SubClassOf 'sweat gland cancer' http://purl.obolibrary.org/obo/MONDO_0003218 adenocarcinoma in situ 'adenocarcinoma in situ' SubClassOf 'in situ carcinoma' 'adenocarcinoma in situ' SubClassOf 'adenocarcinoma' 'adenocarcinoma in situ' SubClassOf 'in situ carcinoma' 'adenocarcinoma in situ' SubClassOf 'adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0003212 nasal cavity carcinoma 'nasal cavity carcinoma' SubClassOf 'nasal cavity cancer' 'nasal cavity carcinoma' SubClassOf 'nasal cavity cancer' http://purl.obolibrary.org/obo/MONDO_0003219 gastroesophageal junction adenocarcinoma 'gastroesophageal junction adenocarcinoma' SubClassOf 'adenocarcinoma' 'gastroesophageal junction adenocarcinoma' SubClassOf 'adenocarcinoma' http://www.orpha.net/ORDO/Orphanet_280210 Pelizaeus-Merzbacher disease, connatal form 'Pelizaeus-Merzbacher disease, connatal form' SubClassOf 'Pelizaeus-Merzbacher disease' 'Pelizaeus-Merzbacher disease, connatal form' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0003222 central nervous system melanocytic neoplasm 'central nervous system melanocytic neoplasm' SubClassOf 'melanocytic neoplasm' 'central nervous system melanocytic neoplasm' SubClassOf 'melanocytic neoplasm' http://www.orpha.net/ORDO/Orphanet_280219 Pelizaeus-Merzbacher disease, classic form 'Pelizaeus-Merzbacher disease, classic form' SubClassOf 'Pelizaeus-Merzbacher disease' 'Pelizaeus-Merzbacher disease, classic form' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_255210 Maternally-inherited Leigh syndrome 'Maternally-inherited Leigh syndrome' SubClassOf 'Leigh syndrome' 'Maternally-inherited Leigh syndrome' SubClassOf 'Neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0054837 intellectual disability, autosomal dominant 57 'intellectual disability, autosomal dominant 57' SubClassOf 'Autosomal dominant non-syndromic intellectual disability' 'intellectual disability, autosomal dominant 57' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015802 http://purl.obolibrary.org/obo/MONDO_0003243 hepatocellular clear cell carcinoma 'hepatocellular clear cell carcinoma' SubClassOf 'clear cell adenocarcinoma' 'hepatocellular clear cell carcinoma' SubClassOf 'clear cell adenocarcinoma' http://www.orpha.net/ORDO/Orphanet_91483 Rieger anomaly 'Rieger anomaly' SubClassOf 'Iridogoniodysgenesis' 'Rieger anomaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015222 syndromic respiratory or mediastinal malformation 'syndromic respiratory or mediastinal malformation' SubClassOf 'Genetic respiratory or mediastinal malformation' 'syndromic respiratory or mediastinal malformation' EquivalentTo 'Genetic respiratory or mediastinal malformation' and ('has modifier' some 'has a syndromic presentation') 'syndromic respiratory or mediastinal malformation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020023 'syndromic respiratory or mediastinal malformation' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0020023 and ('has modifier' some 'has a syndromic presentation') http://purl.obolibrary.org/obo/MONDO_0054801 erythrocytosis, familial, 6 'erythrocytosis, familial, 6' SubClassOf 'Genetic polycythemia' 'erythrocytosis, familial, 6' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001115 http://www.orpha.net/ORDO/Orphanet_91489 Isolated congenital megalocornea 'Isolated congenital megalocornea' SubClassOf 'has modifier' some 'congenital' 'Isolated congenital megalocornea' SubClassOf 'Corneogoniodysgenesis' 'Isolated congenital megalocornea' SubClassOf 'megalocornea' 'Isolated congenital megalocornea' SubClassOf 'Corneogoniodysgenesis' http://www.orpha.net/ORDO/Orphanet_255249 Leigh syndrome with nephrotic syndrome 'Leigh syndrome with nephrotic syndrome' SubClassOf 'disease has feature' some 'nephrotic syndrome' 'Leigh syndrome with nephrotic syndrome' SubClassOf 'Leigh syndrome' 'Leigh syndrome with nephrotic syndrome' SubClassOf 'Coenzyme Q10 deficiency' 'Leigh syndrome with nephrotic syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0003252 granular cell cancer 'granular cell cancer' SubClassOf 'Granular Cell Tumor' 'granular cell cancer' SubClassOf 'Granular Cell Tumor' http://www.orpha.net/ORDO/Orphanet_255241 Leigh syndrome with leukodystrophy 'Leigh syndrome with leukodystrophy' SubClassOf 'Leigh syndrome' 'Leigh syndrome with leukodystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_91494 Macular coloboma - cleft palate - hallux valgus 'Macular coloboma - cleft palate - hallux valgus' SubClassOf 'Genetic macular dystrophy' 'Macular coloboma - cleft palate - hallux valgus' SubClassOf 'Orofacial clefting syndrome' 'Macular coloboma - cleft palate - hallux valgus' SubClassOf 'Colobomatous and areolar dystrophy' 'Macular coloboma - cleft palate - hallux valgus' SubClassOf 'Orofacial clefting syndrome' 'Macular coloboma - cleft palate - hallux valgus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019118 http://www.orpha.net/ORDO/Orphanet_91495 Persistent hyperplastic primary vitreous 'Persistent hyperplastic primary vitreous' SubClassOf 'vitreous disorder' 'Persistent hyperplastic primary vitreous' SubClassOf 'Syndromic cataract' 'Persistent hyperplastic primary vitreous' SubClassOf 'Congenital vitreoretinal dysplasia' 'Persistent hyperplastic primary vitreous' SubClassOf 'Syndromic cataract' 'Persistent hyperplastic primary vitreous' SubClassOf 'Congenital vitreoretinal dysplasia' http://www.orpha.net/ORDO/Orphanet_91492 Non-syndromic congenital cataract 'Non-syndromic congenital cataract' SubClassOf 'Rare non-syndromic cataract' 'Non-syndromic congenital cataract' SubClassOf 'Non-syndromic developmental defect of the eye' 'Non-syndromic congenital cataract' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_91490 Isolated congenital sclerocornea 'Isolated congenital sclerocornea' SubClassOf 'Corneogoniodysgenesis' 'Isolated congenital sclerocornea' SubClassOf 'Corneogoniodysgenesis' http://www.orpha.net/ORDO/Orphanet_91491 Congenital ectropion uveae 'Congenital ectropion uveae' SubClassOf 'Iridogoniodysgenesis' 'Congenital ectropion uveae' SubClassOf 'has modifier' some 'congenital' 'Congenital ectropion uveae' SubClassOf 'Non-syndromic developmental defect of the eye' 'Congenital ectropion uveae' SubClassOf 'Iridogoniodysgenesis' http://purl.obolibrary.org/obo/MONDO_0030866 neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities 'neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities' SubClassOf 'Rare genetic neurological disorder' 'neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.orpha.net/ORDO/Orphanet_91498 Familial congenital palsy of trochlear nerve 'Familial congenital palsy of trochlear nerve' SubClassOf 'congenital nervous system disorder' 'Familial congenital palsy of trochlear nerve' SubClassOf 'Nuclear oculomotor paralysis' 'Familial congenital palsy of trochlear nerve' SubClassOf 'Congenital trochlear nerve palsy' 'Familial congenital palsy of trochlear nerve' SubClassOf 'fourth cranial nerve palsy' 'Familial congenital palsy of trochlear nerve' EquivalentTo 'fourth cranial nerve palsy' and ('has modifier' some 'inherited') 'Familial congenital palsy of trochlear nerve' SubClassOf 'Congenital trochlear nerve palsy' http://www.orpha.net/ORDO/Orphanet_91496 Snowflake vitreoretinal degeneration 'Snowflake vitreoretinal degeneration' SubClassOf 'Vitreoretinal degeneration' 'Snowflake vitreoretinal degeneration' SubClassOf 'Vitreoretinal degeneration' http://purl.obolibrary.org/obo/MONDO_0054813 Ehlers-Danlos syndrome, classic-like, 2 'Ehlers-Danlos syndrome, classic-like, 2' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, classic-like, 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020066 http://purl.obolibrary.org/obo/MONDO_0054817 leukodystrophy, hypomyelinating, 17 'leukodystrophy, hypomyelinating, 17' SubClassOf 'Leukodystrophy' 'leukodystrophy, hypomyelinating, 17' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019046 http://purl.obolibrary.org/obo/MONDO_0054865 encephalopathy due to mitochondrial and peroxisomal fission defect 'encephalopathy due to mitochondrial and peroxisomal fission defect' SubClassOf 'Neurometabolic disease' 'encephalopathy due to mitochondrial and peroxisomal fission defect' SubClassOf 'Mitochondrial oxidative phosphorylation disorder' 'encephalopathy due to mitochondrial and peroxisomal fission defect' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019058 'encephalopathy due to mitochondrial and peroxisomal fission defect' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016387 http://purl.obolibrary.org/obo/MONDO_0003274 thoracic cancer 'thoracic cancer' SubClassOf 'cancer' 'thoracic cancer' SubClassOf 'neoplasm of thorax' 'thoracic cancer' SubClassOf 'cancer' 'thoracic cancer' SubClassOf 'neoplasm of thorax' http://purl.obolibrary.org/obo/MONDO_0003275 middle ear cancer 'middle ear cancer' SubClassOf 'malignant ear neoplasm' 'middle ear cancer' SubClassOf 'neoplasm of middle ear' 'middle ear cancer' SubClassOf 'malignant ear neoplasm' 'middle ear cancer' SubClassOf 'neoplasm of middle ear' http://www.orpha.net/ORDO/Orphanet_399058 Alpha-B crystallin-related late-onset distal myopathy 'Alpha-B crystallin-related late-onset distal myopathy' SubClassOf 'Alpha-crystallinopathy' 'Alpha-B crystallin-related late-onset distal myopathy' SubClassOf 'Autosomal dominant distal myopathy' 'Alpha-B crystallin-related late-onset distal myopathy' SubClassOf 'Alpha-crystallinopathy' 'Alpha-B crystallin-related late-onset distal myopathy' SubClassOf 'Autosomal dominant distal myopathy' http://purl.obolibrary.org/obo/MONDO_0015277 medullary thyroid gland carcinoma 'medullary thyroid gland carcinoma' SubClassOf 'neuroendocrine carcinoma' 'medullary thyroid gland carcinoma' SubClassOf 'neuroendocrine carcinoma' http://purl.obolibrary.org/obo/MONDO_0054852 peeling skin syndrome 6 'peeling skin syndrome 6' SubClassOf 'Peeling skin syndrome' 'peeling skin syndrome 6' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019347 http://www.orpha.net/ORDO/Orphanet_231214 Beta-thalassemia major 'Beta-thalassemia major' SubClassOf 'beta-thalassemia HBB/LCRB' 'Beta-thalassemia major' SubClassOf 'Beta-thalassemia' http://www.orpha.net/ORDO/Orphanet_399096 Distal anoctaminopathy 'Distal anoctaminopathy' SubClassOf 'Miyoshi myopathy' 'Distal anoctaminopathy' SubClassOf 'Autosomal recessive distal myopathy' http://www.orpha.net/ORDO/Orphanet_231237 Delta-beta-thalassemia 'Delta-beta-thalassemia' SubClassOf 'Beta-thalassemia and related diseases' http://www.orpha.net/ORDO/Orphanet_231226 Dominant beta-thalassemia 'Dominant beta-thalassemia' SubClassOf 'Beta-thalassemia' 'Dominant beta-thalassemia' SubClassOf 'Beta-thalassemia' http://www.orpha.net/ORDO/Orphanet_231222 Beta-thalassemia intermedia 'Beta-thalassemia intermedia' SubClassOf 'beta-thalassemia HBB/LCRB' 'Beta-thalassemia intermedia' SubClassOf 'Beta-thalassemia' http://www.orpha.net/ORDO/Orphanet_399081 KLHL9-related childhood-onset distal myopathy 'KLHL9-related childhood-onset distal myopathy' SubClassOf 'Autosomal dominant distal myopathy' 'KLHL9-related childhood-onset distal myopathy' SubClassOf 'Autosomal dominant distal myopathy' http://www.orpha.net/ORDO/Orphanet_399086 Finnish upper limb-onset distal myopathy 'Finnish upper limb-onset distal myopathy' SubClassOf 'Autosomal dominant distal myopathy' 'Finnish upper limb-onset distal myopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_399103 Nebulin-related early-onset distal myopathy 'Nebulin-related early-onset distal myopathy' SubClassOf 'Autosomal recessive distal myopathy' 'Nebulin-related early-onset distal myopathy' SubClassOf 'Autosomal recessive distal myopathy' http://www.orpha.net/ORDO/Orphanet_280195 Septopreoptic holoprosencephaly 'Septopreoptic holoprosencephaly' SubClassOf 'Holoprosencephaly' http://www.orpha.net/ORDO/Orphanet_363189 congenital anomaly of the great veins 'congenital anomaly of the great veins' SubClassOf 'Genetic vascular anomaly' 'congenital anomaly of the great veins' SubClassOf 'congenital heart malformation' 'congenital anomaly of the great veins' SubClassOf 'vascular anomaly' 'congenital anomaly of the great veins' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_66518 Short fifth metacarpals - insulin resistance 'Short fifth metacarpals - insulin resistance' SubClassOf 'diabetes mellitus' http://www.orpha.net/ORDO/Orphanet_255182 Pyruvate dehydrogenase E3-binding protein deficiency 'Pyruvate dehydrogenase E3-binding protein deficiency' SubClassOf 'Pyruvate dehydrogenase deficiency' 'Pyruvate dehydrogenase E3-binding protein deficiency' SubClassOf 'Pyruvate dehydrogenase deficiency' http://www.orpha.net/ORDO/Orphanet_280183 Methylmalonic aciduria due to transcobalamin receptor defect 'Methylmalonic aciduria due to transcobalamin receptor defect' SubClassOf 'Disorder of cobalamin metabolism and transport' 'Methylmalonic aciduria due to transcobalamin receptor defect' SubClassOf 'methylmalonic acidemia' 'Methylmalonic aciduria due to transcobalamin receptor defect' SubClassOf 'Disorder of cobalamin metabolism and transport' http://purl.obolibrary.org/obo/MONDO_0030910 intellectual disability, autosomal dominant 45 'intellectual disability, autosomal dominant 45' SubClassOf 'Autosomal dominant non-syndromic intellectual disability' 'intellectual disability, autosomal dominant 45' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015802 http://purl.obolibrary.org/obo/MONDO_0030912 intellectual disability, autosomal dominant 47 'intellectual disability, autosomal dominant 47' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'intellectual disability, autosomal dominant 47' SubClassOf 'Autosomal dominant non-syndromic intellectual disability' 'intellectual disability, autosomal dominant 47' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043005 'intellectual disability, autosomal dominant 47' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015802 'intellectual disability, autosomal dominant 47' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015159 http://purl.obolibrary.org/obo/MONDO_0030919 intellectual disability, autosomal dominant 53 'intellectual disability, autosomal dominant 53' SubClassOf 'Autosomal dominant non-syndromic intellectual disability' 'intellectual disability, autosomal dominant 53' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015802 http://purl.obolibrary.org/obo/MONDO_0030918 intellectual disability, autosomal dominant 52 'intellectual disability, autosomal dominant 52' SubClassOf 'Autosomal dominant non-syndromic intellectual disability' 'intellectual disability, autosomal dominant 52' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015802 http://purl.obolibrary.org/obo/MONDO_0030914 Clark-Baraitser syndrome 'Clark-Baraitser syndrome' SubClassOf 'Autosomal dominant non-syndromic intellectual disability' 'Clark-Baraitser syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015802 http://purl.obolibrary.org/obo/MONDO_0030917 intellectual disability, autosomal dominant 51 'intellectual disability, autosomal dominant 51' SubClassOf 'Autosomal dominant non-syndromic intellectual disability' 'intellectual disability, autosomal dominant 51' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015802 http://purl.obolibrary.org/obo/MONDO_0030916 intellectual disability, autosomal dominant 50 'intellectual disability, autosomal dominant 50' SubClassOf 'Autosomal dominant non-syndromic intellectual disability' 'intellectual disability, autosomal dominant 50' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015802 http://www.orpha.net/ORDO/Orphanet_280133 Complement component 3 deficiency 'Complement component 3 deficiency' SubClassOf 'classic complement early component deficiency' http://purl.obolibrary.org/obo/MONDO_0030907 intellectual disability, X-linked 106 'intellectual disability, X-linked 106' SubClassOf 'X-linked non-syndromic intellectual disability' 'intellectual disability, X-linked 106' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019181 http://www.orpha.net/ORDO/Orphanet_280142 Severe combined immunodeficiency due to LCK deficiency 'Severe combined immunodeficiency due to LCK deficiency' SubClassOf 'T-B- severe combined immunodeficiency' 'Severe combined immunodeficiency due to LCK deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017855 http://www.orpha.net/ORDO/Orphanet_231137 Silver-Russell syndrome due to 7p11.2p13 microduplication 'Silver-Russell syndrome due to 7p11.2p13 microduplication' SubClassOf 'Partial duplication of the short arm of chromosome 7' 'Silver-Russell syndrome due to 7p11.2p13 microduplication' SubClassOf 'Silver-Russell syndrome' 'Silver-Russell syndrome due to 7p11.2p13 microduplication' SubClassOf 'Partial duplication of the short arm of chromosome 7' 'Silver-Russell syndrome due to 7p11.2p13 microduplication' SubClassOf http://purl.obolibrary.org/obo/MONDO_0008394 http://www.orpha.net/ORDO/Orphanet_91387 Familial thoracic aortic aneurysm and aortic dissection 'Familial thoracic aortic aneurysm and aortic dissection' SubClassOf 'Marfan and Marfan-related disorder' 'Familial thoracic aortic aneurysm and aortic dissection' SubClassOf 'has modifier' some 'rare' 'Familial thoracic aortic aneurysm and aortic dissection' SubClassOf 'vascular disease' 'Familial thoracic aortic aneurysm and aortic dissection' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017310 http://www.orpha.net/ORDO/Orphanet_231130 Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion 'Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion' SubClassOf 'Beckwith-Wiedemann syndrome' 'Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion' SubClassOf 'Complex chromosomal rearrangement' 'Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017713 disorder of fatty acid oxidation and ketogenesis 'disorder of fatty acid oxidation and ketogenesis' SubClassOf 'Disorder of fatty acid oxidation and ketone body metabolism' 'disorder of fatty acid oxidation and ketogenesis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019223 http://www.orpha.net/ORDO/Orphanet_91396 Isolated cryptophthalmia 'Isolated cryptophthalmia' SubClassOf 'Cryptophthalmia' 'Isolated cryptophthalmia' SubClassOf 'Non-syndromic developmental defect of the eye' 'Isolated cryptophthalmia' EquivalentTo 'Cryptophthalmia' and ('has modifier' some 'has an isolated presentation') 'Isolated cryptophthalmia' SubClassOf 'Cryptophthalmia' 'Isolated cryptophthalmia' SubClassOf 'Non-syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_231127 Beckwith-Wiedemann syndrome due to 11p15 microdeletion 'Beckwith-Wiedemann syndrome due to 11p15 microdeletion' SubClassOf 'Partial deletion of the short arm of chromosome 11' 'Beckwith-Wiedemann syndrome due to 11p15 microdeletion' SubClassOf 'Beckwith-Wiedemann syndrome' 'Beckwith-Wiedemann syndrome due to 11p15 microdeletion' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004284 upper aerodigestive tract neoplasm 'upper aerodigestive tract neoplasm' SubClassOf 'neoplasm' 'upper aerodigestive tract neoplasm' SubClassOf 'neoplasm' http://www.orpha.net/ORDO/Orphanet_91397 Isolated ankyloblepharon filiforme adnatum 'Isolated ankyloblepharon filiforme adnatum' SubClassOf 'Eyelid border anomaly' 'Isolated ankyloblepharon filiforme adnatum' SubClassOf 'Non-syndromic developmental defect of the eye' 'Isolated ankyloblepharon filiforme adnatum' SubClassOf 'Eyelid border anomaly' 'Isolated ankyloblepharon filiforme adnatum' SubClassOf 'Non-syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_231120 Beckwith-Wiedemann syndrome due to CDKN1C mutation 'Beckwith-Wiedemann syndrome due to CDKN1C mutation' SubClassOf 'Beckwith-Wiedemann syndrome' 'Beckwith-Wiedemann syndrome due to CDKN1C mutation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_231154 Combined immunodeficiency T+ B+ due to partial RAG1 deficiency 'Combined immunodeficiency T+ B+ due to partial RAG1 deficiency' SubClassOf 'T-B- severe combined immunodeficiency' 'Combined immunodeficiency T+ B+ due to partial RAG1 deficiency' SubClassOf 'Combined T and B cell immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0003107 infratentorial cancer 'infratentorial cancer' SubClassOf 'brain cancer' 'infratentorial cancer' SubClassOf 'brain cancer' http://www.orpha.net/ORDO/Orphanet_231144 Silver-Russell syndrome due to 11p15 microduplication 'Silver-Russell syndrome due to 11p15 microduplication' SubClassOf 'Partial duplication of the short arm of chromosome 11' 'Silver-Russell syndrome due to 11p15 microduplication' SubClassOf 'Silver-Russell syndrome' 'Silver-Russell syndrome due to 11p15 microduplication' SubClassOf 'Partial duplication of the short arm of chromosome 11' 'Silver-Russell syndrome due to 11p15 microduplication' SubClassOf http://purl.obolibrary.org/obo/MONDO_0008394 http://www.orpha.net/ORDO/Orphanet_231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11' SubClassOf 'chromosome 11 disorder' 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11' SubClassOf 'Silver-Russell syndrome' 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11' SubClassOf 'uniparental disomy' 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11' SubClassOf 'Uniparental disomy of maternal origin' 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11' SubClassOf http://purl.obolibrary.org/obo/MONDO_0008394 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11' SubClassOf 'Uniparental disomy of maternal origin' http://www.orpha.net/ORDO/Orphanet_231140 Silver-Russell syndrome due to imprinting defect of 11p15 'Silver-Russell syndrome due to imprinting defect of 11p15' SubClassOf 'Silver-Russell syndrome' 'Silver-Russell syndrome due to imprinting defect of 11p15' SubClassOf http://purl.obolibrary.org/obo/MONDO_0008394 http://purl.obolibrary.org/obo/MONDO_0054701 Kleefstra syndrome 2 'Kleefstra syndrome 2' SubClassOf 'Kleefstra syndrome' 'Kleefstra syndrome 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0012455 http://purl.obolibrary.org/obo/MONDO_0054700 proteasome-associated autoinflammatory syndrome 2 'proteasome-associated autoinflammatory syndrome 2' SubClassOf 'Proteasome disability syndrome' 'proteasome-associated autoinflammatory syndrome 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0009726 http://www.orpha.net/ORDO/Orphanet_231178 Usher syndrome type 2 'Usher syndrome type 2' SubClassOf 'Usher syndrome' 'Usher syndrome type 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0003113 extragonadal germ cell cancer 'extragonadal germ cell cancer' SubClassOf 'extragonadal germ cell tumor' 'extragonadal germ cell cancer' SubClassOf 'Malignant Germ Cell Tumor' 'extragonadal germ cell cancer' SubClassOf 'extragonadal germ cell tumor' 'extragonadal germ cell cancer' SubClassOf 'Malignant Germ Cell Tumor' http://www.orpha.net/ORDO/Orphanet_91357 Duplication of the esophagus 'Duplication of the esophagus' SubClassOf 'Non-syndromic esophageal malformation' 'Duplication of the esophagus' SubClassOf 'Non-syndromic esophageal malformation' http://www.orpha.net/ORDO/Orphanet_91358 Congenital esophageal diverticulum 'Congenital esophageal diverticulum' SubClassOf 'Non-syndromic esophageal malformation' 'Congenital esophageal diverticulum' SubClassOf 'has modifier' some 'congenital' 'Congenital esophageal diverticulum' SubClassOf 'Non-syndromic esophageal malformation' http://www.orpha.net/ORDO/Orphanet_231169 Usher syndrome type 1 'Usher syndrome type 1' SubClassOf 'Usher syndrome' 'Usher syndrome type 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_231160 Familial cerebral saccular aneurysm 'Familial cerebral saccular aneurysm' SubClassOf 'Genetic neurovascular malformation' 'Familial cerebral saccular aneurysm' SubClassOf 'brain aneurysm' 'Familial cerebral saccular aneurysm' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'Familial cerebral saccular aneurysm' SubClassOf 'Genetic central nervous system and retinal vascular disease' http://www.orpha.net/ORDO/Orphanet_255138 Pyruvate dehydrogenase E1-beta deficiency 'Pyruvate dehydrogenase E1-beta deficiency' SubClassOf 'Pyruvate dehydrogenase deficiency' 'Pyruvate dehydrogenase E1-beta deficiency' SubClassOf 'Pyruvate dehydrogenase deficiency' http://www.orpha.net/ORDO/Orphanet_91378 Hereditary angioedema 'Hereditary angioedema' SubClassOf 'angioedema' 'Hereditary angioedema' EquivalentTo 'angioedema' and ('has modifier' some 'inherited') 'Hereditary angioedema' SubClassOf 'genetic skin disease' 'Hereditary angioedema' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_231183 Usher syndrome type 3 'Usher syndrome type 3' SubClassOf 'Usher syndrome' 'Usher syndrome type 3' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_255132 Adult-onset autosomal recessive sideroblastic anemia 'Adult-onset autosomal recessive sideroblastic anemia' SubClassOf 'Mitochondrial substrate carrier disorder' 'Adult-onset autosomal recessive sideroblastic anemia' SubClassOf 'Autosomal recessive sideroblastic anemia' 'Adult-onset autosomal recessive sideroblastic anemia' SubClassOf 'Constitutional sideroblastic anemia' 'Adult-onset autosomal recessive sideroblastic anemia' SubClassOf 'Mitochondrial substrate carrier disorder' http://purl.obolibrary.org/obo/MONDO_0003157 disappearing bone disease 'disappearing bone disease' SubClassOf 'syndromic disease' 'disappearing bone disease' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0003158 malignant myoepithelioma 'malignant myoepithelioma' SubClassOf 'carcinoma' 'malignant myoepithelioma' SubClassOf 'myoepithelial tumor' 'malignant myoepithelioma' SubClassOf 'carcinoma' 'malignant myoepithelioma' SubClassOf 'myoepithelial tumor' http://purl.obolibrary.org/obo/MONDO_0054748 Fanconi anemia, complementation group S 'Fanconi anemia, complementation group S' SubClassOf 'Fanconi anemia' 'Fanconi anemia, complementation group S' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019391 http://purl.obolibrary.org/obo/MONDO_0015130 acquired chronic primary adrenal insufficiency 'acquired chronic primary adrenal insufficiency' EquivalentTo 'Genetic chronic primary adrenal insufficiency' and ('has modifier' some 'acquired') 'acquired chronic primary adrenal insufficiency' SubClassOf 'Genetic chronic primary adrenal insufficiency' 'acquired chronic primary adrenal insufficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015129 'acquired chronic primary adrenal insufficiency' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0015129 and ('has modifier' some 'acquired') http://purl.obolibrary.org/obo/MONDO_0015133 quantitative and/or qualitative congenital phagocyte defect 'quantitative and/or qualitative congenital phagocyte defect' SubClassOf 'Primary immunodeficiency due to a defect in innate immunity' 'quantitative and/or qualitative congenital phagocyte defect' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015135 http://purl.obolibrary.org/obo/MONDO_0003175 salivary gland adenoid cystic carcinoma 'salivary gland adenoid cystic carcinoma' SubClassOf 'salivary gland carcinoma' 'salivary gland adenoid cystic carcinoma' SubClassOf 'adenoid cystic carcinoma' 'salivary gland adenoid cystic carcinoma' SubClassOf 'salivary gland carcinoma' 'salivary gland adenoid cystic carcinoma' SubClassOf 'adenoid cystic carcinoma' http://purl.obolibrary.org/obo/MONDO_0003180 cutaneous adenocystic carcinoma 'cutaneous adenocystic carcinoma' SubClassOf 'adenoid cystic carcinoma' 'cutaneous adenocystic carcinoma' SubClassOf 'adenoid cystic carcinoma' http://purl.obolibrary.org/obo/MONDO_0003181 lung adenoid cystic carcinoma 'lung adenoid cystic carcinoma' SubClassOf 'adenoid cystic carcinoma' 'lung adenoid cystic carcinoma' SubClassOf 'adenoid cystic carcinoma' http://purl.obolibrary.org/obo/MONDO_0003196 appendix carcinoma 'appendix carcinoma' SubClassOf 'appendix cancer' 'appendix carcinoma' SubClassOf 'appendix cancer' http://purl.obolibrary.org/obo/MONDO_0003197 granular cell carcinoma 'granular cell carcinoma' SubClassOf 'adenocarcinoma' 'granular cell carcinoma' SubClassOf 'adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0003199 anal carcinoma 'anal carcinoma' SubClassOf 'anus cancer' 'anal carcinoma' SubClassOf 'anus cancer' http://purl.obolibrary.org/obo/MONDO_0054782 leukodystrophy, hypomyelinating, 15 'leukodystrophy, hypomyelinating, 15' SubClassOf 'Leukodystrophy' 'leukodystrophy, hypomyelinating, 15' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019046 http://purl.obolibrary.org/obo/MONDO_0054785 multiple mitochondrial dysfunctions syndrome 6 'multiple mitochondrial dysfunctions syndrome 6' SubClassOf 'Fatal multiple mitochondrial dysfunction syndrome' 'multiple mitochondrial dysfunctions syndrome 6' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017338 http://purl.obolibrary.org/obo/MONDO_0054794 hydrocephalus, congenital, 3, with brain anomalies 'hydrocephalus, congenital, 3, with brain anomalies' SubClassOf 'Congenital hydrocephalus' 'hydrocephalus, congenital, 3, with brain anomalies' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016349 http://www.orpha.net/ORDO/Orphanet_231117 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 'Beckwith-Wiedemann syndrome due to imprinting defect of 11p15' SubClassOf 'Beckwith-Wiedemann syndrome' 'Beckwith-Wiedemann syndrome due to imprinting defect of 11p15' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0054764 neurodegeneration with brain iron accumulation 8 'neurodegeneration with brain iron accumulation 8' SubClassOf 'Neurodegeneration with brain iron accumulation' 'neurodegeneration with brain iron accumulation 8' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018307 http://www.orpha.net/ORDO/Orphanet_231108 Familial rhabdoid tumor 'Familial rhabdoid tumor' SubClassOf 'malignant rhabdoid tumour' 'Familial rhabdoid tumor' EquivalentTo 'Inherited cancer-predisposing syndrome' and ('disease has feature' some 'malignant rhabdoid tumour') 'Familial rhabdoid tumor' SubClassOf 'disease has feature' some 'malignant rhabdoid tumour' 'Familial rhabdoid tumor' SubClassOf 'Genetic soft tissue tumor' 'Familial rhabdoid tumor' SubClassOf 'Inherited cancer-predisposing syndrome' 'Familial rhabdoid tumor' SubClassOf 'malignant rhabdoid tumour' 'Familial rhabdoid tumor' SubClassOf 'Genetic soft tissue tumor' http://www.orpha.net/ORDO/Orphanet_363294 Genetic syndromic Pierre Robin syndrome 'Genetic syndromic Pierre Robin syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'Genetic syndromic Pierre Robin syndrome' SubClassOf 'otorhinolaryngologic disease' 'Genetic syndromic Pierre Robin syndrome' SubClassOf 'disorder of development or morphogenesis' http://www.orpha.net/ORDO/Orphanet_280071 ALG11-CDG 'ALG11-CDG' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'ALG11-CDG' SubClassOf 'Disorder of protein N-glycosylation' 'ALG11-CDG' SubClassOf 'congenital nervous system disorder' 'ALG11-CDG' SubClassOf 'congenital disorder of glycosylation type I' 'ALG11-CDG' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'ALG11-CDG' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0006859 head and neck malignant neoplasia 'head and neck malignant neoplasia' SubClassOf 'cancer' 'head and neck malignant neoplasia' SubClassOf 'head and neck neoplasia' 'head and neck malignant neoplasia' SubClassOf 'cancer' 'head and neck malignant neoplasia' SubClassOf 'head and neck neoplasia' http://www.ebi.ac.uk/efo/EFO_0006858 epithelial neoplasm 'epithelial neoplasm' SubClassOf 'neoplasm' 'epithelial neoplasm' SubClassOf 'neoplasm' http://www.orpha.net/ORDO/Orphanet_137908 Hypotonia with lactic acidemia and hyperammonemia 'Hypotonia with lactic acidemia and hyperammonemia' SubClassOf 'combined oxidative phosphorylation deficiency' http://www.orpha.net/ORDO/Orphanet_137905 Syndromic optic nerve hypoplasia 'Syndromic optic nerve hypoplasia' SubClassOf 'Optic neuropathy' 'Syndromic optic nerve hypoplasia' SubClassOf 'Optic neuropathy' http://www.orpha.net/ORDO/Orphanet_137911 Autism - facial port-wine stain 'Autism - facial port-wine stain' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0006862 Meniere disease 'Meniere disease' SubClassOf 'head and neck disorder' http://www.ebi.ac.uk/efo/EFO_0006861 male breast carcinoma 'male breast carcinoma' SubClassOf 'breast carcinoma' 'male breast carcinoma' SubClassOf 'breast carcinoma' http://www.orpha.net/ORDO/Orphanet_101960 Genetic chronic primary adrenal insufficiency 'Genetic chronic primary adrenal insufficiency' SubClassOf 'primary adrenal insufficiency' 'Genetic chronic primary adrenal insufficiency' SubClassOf 'adrenocortical insufficiency' http://www.ebi.ac.uk/efo/EFO_0004209 hypospadias 'hypospadias' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_101957 Pituitary deficiency 'Pituitary deficiency' SubClassOf 'endocrine system disease' http://www.orpha.net/ORDO/Orphanet_101934 Genetic cardiac rhythm disease 'Genetic cardiac rhythm disease' EquivalentTo 'cardiac rhythm disease' and ('has modifier' some 'inherited') 'Genetic cardiac rhythm disease' SubClassOf 'cardiac rhythm disease' 'Genetic cardiac rhythm disease' SubClassOf 'has modifier' some 'rare' http://www.ebi.ac.uk/efo/EFO_0004235 exfoliation syndrome 'exfoliation syndrome' SubClassOf 'syndromic disease' 'exfoliation syndrome' SubClassOf 'Hereditary glaucoma' 'exfoliation syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018174 'exfoliation syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0004239 chronic hepatitis B virus infection 'chronic hepatitis B virus infection' SubClassOf 'hepatitis B virus infection' 'chronic hepatitis B virus infection' SubClassOf 'hepatitis B virus infection' http://www.orpha.net/ORDO/Orphanet_363203 Ring chromosome 'Ring chromosome' SubClassOf 'Autosomal monosomy' 'Ring chromosome' SubClassOf 'Autosomal monosomy' http://www.ebi.ac.uk/efo/EFO_0004220 chronic hepatitis C virus infection 'chronic hepatitis C virus infection' SubClassOf 'hepatitis C virus infection' 'chronic hepatitis C virus infection' SubClassOf 'hepatitis C virus infection' http://www.ebi.ac.uk/efo/EFO_0004226 Creutzfeldt Jacob Disease 'Creutzfeldt Jacob Disease' SubClassOf 'prion disease' 'Creutzfeldt Jacob Disease' SubClassOf 'prion disease' http://www.orpha.net/ORDO/Orphanet_101997 Primary immunodeficiency 'Primary immunodeficiency' SubClassOf 'Rare genetic immune disease' 'Primary immunodeficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004254 membranous glomerulonephritis 'membranous glomerulonephritis' SubClassOf 'glomerulonephritis' 'membranous glomerulonephritis' SubClassOf 'glomerulonephritis' http://www.ebi.ac.uk/efo/EFO_0004255 nephrotic syndrome 'nephrotic syndrome' SubClassOf 'syndromic disease' 'nephrotic syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0004242 obsessive-compulsive disorder 'obsessive-compulsive disorder' SubClassOf 'Rare genetic neurological disorder' 'obsessive-compulsive disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.ebi.ac.uk/efo/EFO_0004247 mood disorder 'mood disorder' SubClassOf 'mental or behavioural disorder' 'mood disorder' SubClassOf 'mental or behavioural disorder' http://www.ebi.ac.uk/efo/EFO_0004248 male infertility 'male infertility' SubClassOf 'male reproductive system disease' 'male infertility' SubClassOf 'male reproductive system disease' http://www.orpha.net/ORDO/Orphanet_101977 Immunodeficiency predominantly affecting antibody production 'Immunodeficiency predominantly affecting antibody production' SubClassOf 'Primary immunodeficiency due to a defect in adaptive immunity' 'Immunodeficiency predominantly affecting antibody production' SubClassOf 'Primary immunodeficiency due to a defect in adaptive immunity' http://www.ebi.ac.uk/efo/EFO_0004270 restless legs syndrome 'restless legs syndrome' SubClassOf 'Rare genetic neurological disorder' 'restless legs syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.ebi.ac.uk/efo/EFO_0004276 Stevens-Johnson syndrome 'Stevens-Johnson syndrome' SubClassOf 'syndromic disease' 'Stevens-Johnson syndrome' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_101972 Combined T and B cell immunodeficiency 'Combined T and B cell immunodeficiency' SubClassOf 'immunodeficiency disease' 'Combined T and B cell immunodeficiency' SubClassOf 'Primary immunodeficiency due to a defect in adaptive immunity' 'Combined T and B cell immunodeficiency' SubClassOf 'Primary immunodeficiency due to a defect in adaptive immunity' http://www.orpha.net/ORDO/Orphanet_101988 Primary immunodeficiency due to a defect in innate immunity 'Primary immunodeficiency due to a defect in innate immunity' SubClassOf 'has modifier' some 'rare' 'Primary immunodeficiency due to a defect in innate immunity' SubClassOf 'primary immunodeficiency disease' 'Primary immunodeficiency due to a defect in innate immunity' SubClassOf 'Primary immunodeficiency' 'Primary immunodeficiency due to a defect in innate immunity' SubClassOf 'primary immunodeficiency disease' http://www.orpha.net/ORDO/Orphanet_91415 Familial capillary hemangioma 'Familial capillary hemangioma' SubClassOf 'Palpebral tumor with a vascular malformation' 'Familial capillary hemangioma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_91412 Marcus-Gunn syndrome 'Marcus-Gunn syndrome' SubClassOf 'cranial nerve neuropathy' 'Marcus-Gunn syndrome' SubClassOf 'Rare genetic neurological disorder' 'Marcus-Gunn syndrome' SubClassOf 'Eyelids malposition disorder' http://www.orpha.net/ORDO/Orphanet_101987 Constitutional neutropenia 'Constitutional neutropenia' SubClassOf 'quantitative and/or qualitative congenital phagocyte defect' 'Constitutional neutropenia' SubClassOf 'congenital hematological disorder' 'Constitutional neutropenia' SubClassOf 'neutropenia' 'Constitutional neutropenia' SubClassOf 'Primary immunodeficiency due to a defect in innate immunity' http://www.orpha.net/ORDO/Orphanet_91413 Congenital Horner syndrome 'Congenital Horner syndrome' SubClassOf 'Eyelids malposition disorder' http://www.orpha.net/ORDO/Orphanet_91411 Congenital ptosis 'Congenital ptosis' SubClassOf 'Eyelids malposition disorder' 'Congenital ptosis' SubClassOf 'ptosis' http://www.orpha.net/ORDO/Orphanet_363245 Genetic progeroid syndrome 'Genetic progeroid syndrome' SubClassOf 'Rare genetic developmental defect during embryogenesis' 'Genetic progeroid syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_91416 Isolated congenital alacrima 'Isolated congenital alacrima' SubClassOf 'has modifier' some 'has an isolated presentation' 'Isolated congenital alacrima' SubClassOf 'Congenital alacrima' 'Isolated congenital alacrima' EquivalentTo 'Congenital alacrima' and ('has modifier' some 'has an isolated presentation') 'Isolated congenital alacrima' SubClassOf 'Congenital alacrima' http://purl.obolibrary.org/obo/MONDO_0017824 familial isolated pituitary adenoma 'familial isolated pituitary adenoma' SubClassOf 'Rare genetic neurological disorder' 'familial isolated pituitary adenoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.orpha.net/ORDO/Orphanet_137902 Isolated optic nerve hypoplasia 'Isolated optic nerve hypoplasia' SubClassOf 'Optic neuropathy' 'Isolated optic nerve hypoplasia' SubClassOf 'Optic neuropathy' http://purl.obolibrary.org/obo/MONDO_0017609 renal tubular dysgenesis 'renal tubular dysgenesis' SubClassOf 'Genetic non-syndromic renal or urinary tract malformation' 'renal tubular dysgenesis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019720 http://purl.obolibrary.org/obo/MONDO_0017634 non-infectious anterior uveitis 'non-infectious anterior uveitis' SubClassOf 'anterior uveitis' 'non-infectious anterior uveitis' SubClassOf 'anterior uveitis' http://purl.obolibrary.org/obo/MONDO_0003008 hereditary renal cell carcinoma 'hereditary renal cell carcinoma' SubClassOf 'renal cell adenocarcinoma' 'hereditary renal cell carcinoma' SubClassOf 'renal cell adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0003000 central nervous system germ cell tumor 'central nervous system germ cell tumor' SubClassOf 'Central Nervous System Neoplasm' 'central nervous system germ cell tumor' SubClassOf 'Central Nervous System Neoplasm' http://www.orpha.net/ORDO/Orphanet_280406 Familial steroid-resistant nephrotic syndrome with sensorineural deafness 'Familial steroid-resistant nephrotic syndrome with sensorineural deafness' SubClassOf 'Familial idiopathic steroid-resistant nephrotic syndrome' 'Familial steroid-resistant nephrotic syndrome with sensorineural deafness' SubClassOf 'Coenzyme Q10 deficiency' 'Familial steroid-resistant nephrotic syndrome with sensorineural deafness' SubClassOf 'Syndromic genetic deafness' 'Familial steroid-resistant nephrotic syndrome with sensorineural deafness' SubClassOf 'Syndromic genetic deafness' 'Familial steroid-resistant nephrotic syndrome with sensorineural deafness' SubClassOf 'Primary glomerular disease' http://www.orpha.net/ORDO/Orphanet_280403 Familial omphalocele syndrome with facial dysmorphism 'Familial omphalocele syndrome with facial dysmorphism' SubClassOf 'syndromic diaphragmatic or abdominal wall malformation' http://purl.obolibrary.org/obo/MONDO_0015006 epidermolysis bullosa simplex 6, generalized, with scarring and hair loss 'epidermolysis bullosa simplex 6, generalized, with scarring and hair loss' SubClassOf 'Basal epidermolysis bullosa simplex' 'epidermolysis bullosa simplex 6, generalized, with scarring and hair loss' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015551 http://purl.obolibrary.org/obo/MONDO_0015003 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 'dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities' SubClassOf 'Rare syndromic dyslipidemia' 'dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities' SubClassOf 'Lipoic acid biosynthesis defect' 'dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities' SubClassOf 'Cerebral organic aciduria' 'dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities' SubClassOf 'Persistent combined dystonia' 'dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities' SubClassOf 'Genetic neurodegenerative disease' 'dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities' SubClassOf 'Neurometabolic disease' 'dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024237 'dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018329 'dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018424 'dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019213 'dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019058 'dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015905 http://purl.obolibrary.org/obo/MONDO_0015009 lymphatic malformation 7 'lymphatic malformation 7' SubClassOf 'Milroy disease' 'lymphatic malformation 7' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019313 http://purl.obolibrary.org/obo/MONDO_0015007 spastic paraplegia, intellectual disability, nystagmus, and obesity; 'spastic paraplegia, intellectual disability, nystagmus, and obesity;' SubClassOf 'Syndromic obesity' 'spastic paraplegia, intellectual disability, nystagmus, and obesity;' SubClassOf 'Autosomal dominant complex spastic paraplegia' 'spastic paraplegia, intellectual disability, nystagmus, and obesity;' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016565 'spastic paraplegia, intellectual disability, nystagmus, and obesity;' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015087 http://purl.obolibrary.org/obo/MONDO_0054636 Skraban-Deardorff syndrome 'Skraban-Deardorff syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Skraban-Deardorff syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015159 http://www.orpha.net/ORDO/Orphanet_231401 Alpha-thalassemia - myelodysplastic syndrome 'Alpha-thalassemia - myelodysplastic syndrome' SubClassOf 'Alpha-thalassemia-related diseases' 'Alpha-thalassemia - myelodysplastic syndrome' SubClassOf 'Alpha-thalassemia-related diseases' http://purl.obolibrary.org/obo/MONDO_0003049 ovarian large-cell neuroendocrine carcinoma 'ovarian large-cell neuroendocrine carcinoma' SubClassOf 'large cell neuroendocrine carcinoma' 'ovarian large-cell neuroendocrine carcinoma' SubClassOf 'large cell neuroendocrine carcinoma' http://purl.obolibrary.org/obo/MONDO_0015023 MYPN-related myopathy 'MYPN-related myopathy' SubClassOf 'Nemaline myopathy' 'MYPN-related myopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018958 http://purl.obolibrary.org/obo/MONDO_0003064 inverted transitional cell papilloma 'inverted transitional cell papilloma' SubClassOf 'transitional cell papilloma' 'inverted transitional cell papilloma' SubClassOf 'transitional cell papilloma' http://www.orpha.net/ORDO/Orphanet_42738 Severe congenital neutropenia 'Severe congenital neutropenia' SubClassOf 'Constitutional neutropenia' 'Severe congenital neutropenia' SubClassOf 'Constitutional neutropenia' http://purl.obolibrary.org/obo/MONDO_0015070 laryngeal neuroendocrine neoplasm 'laryngeal neuroendocrine neoplasm' SubClassOf 'laryngeal neoplasm' 'laryngeal neuroendocrine neoplasm' SubClassOf 'laryngeal neoplasm' http://purl.obolibrary.org/obo/MONDO_0003090 extrahepatic bile duct carcinoma 'extrahepatic bile duct carcinoma' SubClassOf 'malignant tumor of extrahepatic bile duct' 'extrahepatic bile duct carcinoma' SubClassOf 'bile duct carcinoma' 'extrahepatic bile duct carcinoma' SubClassOf 'malignant tumor of extrahepatic bile duct' 'extrahepatic bile duct carcinoma' SubClassOf 'bile duct carcinoma' http://purl.obolibrary.org/obo/MONDO_0015067 neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor 'neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor' SubClassOf 'colon neuroendocrine neoplasm' 'neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor' SubClassOf 'colon neuroendocrine neoplasm' http://purl.obolibrary.org/obo/MONDO_0015073 gallbladder neuroendocrine tumor, grade 1/2 'gallbladder neuroendocrine tumor, grade 1/2' SubClassOf 'Genetic biliary tract disease' 'gallbladder neuroendocrine tumor, grade 1/2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015509 http://www.orpha.net/ORDO/Orphanet_365563 Primary short bowel syndrome 'Primary short bowel syndrome' SubClassOf 'short bowel syndrome' http://purl.obolibrary.org/obo/MONDO_0054699 proteasome-associated autoinflammatory syndrome 3 'proteasome-associated autoinflammatory syndrome 3' SubClassOf 'Proteasome disability syndrome' 'proteasome-associated autoinflammatory syndrome 3' SubClassOf http://purl.obolibrary.org/obo/MONDO_0009726 http://purl.obolibrary.org/obo/MONDO_0054691 immunodeficiency, common variable, 14 'immunodeficiency, common variable, 14' SubClassOf 'Common variable immunodeficiency' 'immunodeficiency, common variable, 14' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015517 http://www.orpha.net/ORDO/Orphanet_42775 PHACE syndrome 'PHACE syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' 'PHACE syndrome' SubClassOf 'Palpebral tumor with a vascular malformation' 'PHACE syndrome' SubClassOf 'Rare syndrome with cardiac malformations' 'PHACE syndrome' SubClassOf 'central nervous system malformation' 'PHACE syndrome' SubClassOf 'Genetic neurovascular malformation' 'PHACE syndrome' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' 'PHACE syndrome' SubClassOf 'disease has feature' some 'Genetic neurovascular malformation' 'PHACE syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'PHACE syndrome' SubClassOf 'heart disease' 'PHACE syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'PHACE syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0054695 myopathy, centronuclear, 6, with fiber-type disproportion 'myopathy, centronuclear, 6, with fiber-type disproportion' SubClassOf 'Centronuclear myopathy' 'myopathy, centronuclear, 6, with fiber-type disproportion' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018947 http://www.ebi.ac.uk/efo/EFO_0004533 alkaline phosphatase measurement 'alkaline phosphatase measurement' SubClassOf ('is_about' some 'Hypophosphatasia') or ('is_about' some 'Sarcoidosis') or ('is_about' some 'Wilson disease') 'alkaline phosphatase measurement' SubClassOf ('is_about' some http://purl.obolibrary.org/obo/MONDO_0010200) or ('is_about' some 'Hypophosphatasia') or ('is_about' some 'Sarcoidosis') http://www.orpha.net/ORDO/Orphanet_206428 Hypoxanthine-guanine phosphoribosyltransferase deficiency 'Hypoxanthine-guanine phosphoribosyltransferase deficiency' SubClassOf 'Disorder of purine metabolism' 'Hypoxanthine-guanine phosphoribosyltransferase deficiency' SubClassOf 'Neurometabolic disease' 'Hypoxanthine-guanine phosphoribosyltransferase deficiency' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Hypoxanthine-guanine phosphoribosyltransferase deficiency' SubClassOf 'Vitamin B12- and folate-independent constitutional megaloblastic anemia' 'Hypoxanthine-guanine phosphoribosyltransferase deficiency' SubClassOf 'Disorder of purine metabolism' 'Hypoxanthine-guanine phosphoribosyltransferase deficiency' SubClassOf 'Neurometabolic disease' 'Hypoxanthine-guanine phosphoribosyltransferase deficiency' SubClassOf 'Vitamin B12- and folate-independent constitutional megaloblastic anemia' 'Hypoxanthine-guanine phosphoribosyltransferase deficiency' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' http://www.orpha.net/ORDO/Orphanet_206436 Infantile Krabbe disease 'Infantile Krabbe disease' SubClassOf 'Krabbe disease' 'Infantile Krabbe disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0009499 http://www.orpha.net/ORDO/Orphanet_206448 Adult Krabbe disease 'Adult Krabbe disease' SubClassOf 'Krabbe disease' 'Adult Krabbe disease' SubClassOf 'cerebral lipidosis with dementia' 'Adult Krabbe disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0009499 http://www.ebi.ac.uk/efo/EFO_0004540 chronic fatigue syndrome 'chronic fatigue syndrome' SubClassOf 'Rare genetic neurological disorder' 'chronic fatigue syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.orpha.net/ORDO/Orphanet_206443 Late-infantile/juvenile Krabbe disease 'Late-infantile/juvenile Krabbe disease' SubClassOf 'Krabbe disease' 'Late-infantile/juvenile Krabbe disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0009499 http://www.orpha.net/ORDO/Orphanet_52183 Premature chromosome condensation with microcephaly and intellectual disability 'Premature chromosome condensation with microcephaly and intellectual disability' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Premature chromosome condensation with microcephaly and intellectual disability' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Premature chromosome condensation with microcephaly and intellectual disability' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004594 childhood eosinophilic esophagitis 'childhood eosinophilic esophagitis' SubClassOf 'eosinophilic esophagitis' 'childhood eosinophilic esophagitis' SubClassOf 'eosinophilic esophagitis' http://www.orpha.net/ORDO/Orphanet_294990 Congenital absence/hypoplasia of fingers excluding thumb 'Congenital absence/hypoplasia of fingers excluding thumb' SubClassOf 'Adactyly of hand' 'Congenital absence/hypoplasia of fingers excluding thumb' SubClassOf 'Adactyly of hand' http://www.orpha.net/ORDO/Orphanet_294994 Split foot 'Split foot' SubClassOf 'Split hand or/and split foot malformation' 'Split foot' SubClassOf 'Split hand or/and split foot malformation' http://www.orpha.net/ORDO/Orphanet_294992 Split hand 'Split hand' SubClassOf 'Split hand or/and split foot malformation' 'Split hand' SubClassOf 'Split hand or/and split foot malformation' http://www.orpha.net/ORDO/Orphanet_294988 Congenital absence/hypoplasia of thumb 'Congenital absence/hypoplasia of thumb' SubClassOf 'Adactyly of hand' 'Congenital absence/hypoplasia of thumb' SubClassOf 'Adactyly of hand' http://www.orpha.net/ORDO/Orphanet_294986 Apodia 'Apodia' SubClassOf 'Terminal limb defects' 'Apodia' SubClassOf 'Terminal limb defects' http://www.orpha.net/ORDO/Orphanet_280356 Familial partial lipodystrophy associated with PLIN1 mutations 'Familial partial lipodystrophy associated with PLIN1 mutations' SubClassOf 'Familial partial lipodystrophy' 'Familial partial lipodystrophy associated with PLIN1 mutations' SubClassOf 'Rare insulin-resistance syndrome' 'Familial partial lipodystrophy associated with PLIN1 mutations' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_294998 Brachydactyly of toes 'Brachydactyly of toes' SubClassOf 'foot disorder' 'Brachydactyly of toes' SubClassOf 'Brachydactyly' 'Brachydactyly of toes' SubClassOf 'Brachydactyly' http://www.orpha.net/ORDO/Orphanet_294996 Brachydactyly of fingers 'Brachydactyly of fingers' SubClassOf 'hand disorder' 'Brachydactyly of fingers' SubClassOf 'Brachydactyly' 'Brachydactyly of fingers' SubClassOf 'Brachydactyly' http://www.orpha.net/ORDO/Orphanet_280365 Autosomal codominant severe lipodystrophic laminopathy 'Autosomal codominant severe lipodystrophic laminopathy' SubClassOf 'Familial partial lipodystrophy' 'Autosomal codominant severe lipodystrophic laminopathy' SubClassOf 'diabetes mellitus' 'Autosomal codominant severe lipodystrophic laminopathy' SubClassOf 'Familial partial lipodystrophy' http://www.orpha.net/ORDO/Orphanet_280379 Erythropoietic uroporphyria associated with myeloid malignancy 'Erythropoietic uroporphyria associated with myeloid malignancy' SubClassOf 'inherited porphyria' http://www.orpha.net/ORDO/Orphanet_280384 Recessive intellectual disability - motor dysfunction - multiple joint contractures 'Recessive intellectual disability - motor dysfunction - multiple joint contractures' SubClassOf 'syndromic intellectual disability' 'Recessive intellectual disability - motor dysfunction - multiple joint contractures' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_294951 Congenital joint dislocations 'Congenital joint dislocations' SubClassOf 'Non-syndromic limb malformation' 'Congenital joint dislocations' SubClassOf 'Non-syndromic limb malformation' http://www.orpha.net/ORDO/Orphanet_294944 Congenital deformities of limbs 'Congenital deformities of limbs' SubClassOf 'Non-syndromic limb malformation' 'Congenital deformities of limbs' SubClassOf 'Non-syndromic limb malformation' http://www.orpha.net/ORDO/Orphanet_294942 Postaxial polydactyly of fingers 'Postaxial polydactyly of fingers' SubClassOf 'Polydactyly' 'Postaxial polydactyly of fingers' SubClassOf 'Polydactyly' http://www.orpha.net/ORDO/Orphanet_294947 Congenital deformities of fingers 'Congenital deformities of fingers' SubClassOf 'Congenital deformities of limbs' 'Congenital deformities of fingers' SubClassOf 'Congenital deformities of limbs' http://www.orpha.net/ORDO/Orphanet_294949 Joint formation defects 'Joint formation defects' SubClassOf 'Dysostosis of genetic origin' http://www.orpha.net/ORDO/Orphanet_294953 Limb overgrowth 'Limb overgrowth' SubClassOf 'Non-syndromic limb malformation' 'Limb overgrowth' SubClassOf 'Non-syndromic limb malformation' http://www.orpha.net/ORDO/Orphanet_280325 Distal monosomy 12p 'Distal monosomy 12p' SubClassOf 'Partial deletion of the short arm of chromosome 12' 'Distal monosomy 12p' SubClassOf 'Partial deletion of the short arm of chromosome 12' http://www.orpha.net/ORDO/Orphanet_231393 Beta-thalassemia - X-linked thrombocytopenia 'Beta-thalassemia - X-linked thrombocytopenia' SubClassOf 'GATA1-Related X-Linked Cytopenia' http://www.orpha.net/ORDO/Orphanet_294973 Humeral agenesis/hypoplasia 'Humeral agenesis/hypoplasia' SubClassOf 'Non-syndromic limb reduction defect' 'Humeral agenesis/hypoplasia' SubClassOf 'Non-syndromic limb reduction defect' http://www.orpha.net/ORDO/Orphanet_294971 Tetra-amelia 'Tetra-amelia' SubClassOf 'Amelia' 'Tetra-amelia' SubClassOf 'Amelia' http://www.orpha.net/ORDO/Orphanet_294965 Lethal congenital contracture syndrome 'Lethal congenital contracture syndrome' SubClassOf 'Arthrogryposis syndrome' 'Lethal congenital contracture syndrome' SubClassOf 'Arthrogryposis syndrome' http://www.orpha.net/ORDO/Orphanet_294963 Popliteal pterygium syndrome 'Popliteal pterygium syndrome' SubClassOf 'Arthrogryposis syndrome' 'Popliteal pterygium syndrome' SubClassOf 'syndromic disease' 'Popliteal pterygium syndrome' SubClassOf 'Arthrogryposis syndrome' http://www.orpha.net/ORDO/Orphanet_243343 Dimethylglycine dehydrogenase deficiency 'Dimethylglycine dehydrogenase deficiency' SubClassOf 'Disorder of serine or glycine metabolism' 'Dimethylglycine dehydrogenase deficiency' SubClassOf 'Disorder of serine or glycine metabolism' http://www.orpha.net/ORDO/Orphanet_294969 Amelia of lower limb 'Amelia of lower limb' SubClassOf 'limb disorder' 'Amelia of lower limb' SubClassOf 'Amelia' 'Amelia of lower limb' SubClassOf 'Amelia' http://www.orpha.net/ORDO/Orphanet_294967 Amelia of upper limb 'Amelia of upper limb' SubClassOf 'limb disorder' 'Amelia of upper limb' SubClassOf 'Amelia' 'Amelia of upper limb' SubClassOf 'Amelia' http://www.orpha.net/ORDO/Orphanet_280333 Autosomal recessive limb-girdle muscular dystrophy type 2P 'Autosomal recessive limb-girdle muscular dystrophy type 2P' SubClassOf 'muscular dystrophy-dystroglycanopathy, type C' 'Autosomal recessive limb-girdle muscular dystrophy type 2P' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2P' SubClassOf 'Primary qualitative or quantitative defects of alpha-dystroglycan' 'Autosomal recessive limb-girdle muscular dystrophy type 2P' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2P' SubClassOf 'Primary qualitative or quantitative defects of alpha-dystroglycan' http://www.orpha.net/ORDO/Orphanet_294983 Acheiria 'Acheiria' SubClassOf 'Terminal limb defects' 'Acheiria' SubClassOf 'Terminal limb defects' http://www.orpha.net/ORDO/Orphanet_294981 Congenital absence of both lower leg and foot 'Congenital absence of both lower leg and foot' SubClassOf 'Terminal limb defects' 'Congenital absence of both lower leg and foot' SubClassOf 'Terminal limb defects' http://www.orpha.net/ORDO/Orphanet_294977 Congenital absence of thigh and lower leg with foot present 'Congenital absence of thigh and lower leg with foot present' SubClassOf 'Intercalary limb defects' 'Congenital absence of thigh and lower leg with foot present' SubClassOf 'Intercalary limb defects' http://www.orpha.net/ORDO/Orphanet_294975 Congenital absence of upper arm and forearm with hand present 'Congenital absence of upper arm and forearm with hand present' SubClassOf 'Intercalary limb defects' 'Congenital absence of upper arm and forearm with hand present' SubClassOf 'Intercalary limb defects' http://www.orpha.net/ORDO/Orphanet_294979 Congenital absence of both forearm and hand 'Congenital absence of both forearm and hand' SubClassOf 'Terminal limb defects' 'Congenital absence of both forearm and hand' SubClassOf 'Terminal limb defects' http://www.orpha.net/ORDO/Orphanet_294925 Amelia 'Amelia' SubClassOf 'Non-syndromic limb reduction defect' 'Amelia' SubClassOf 'Non-syndromic limb reduction defect' http://www.orpha.net/ORDO/Orphanet_294929 Terminal limb defects 'Terminal limb defects' SubClassOf 'Non-syndromic limb reduction defect' 'Terminal limb defects' SubClassOf 'Non-syndromic limb reduction defect' http://www.orpha.net/ORDO/Orphanet_294927 Intercalary limb defects 'Intercalary limb defects' SubClassOf 'Non-syndromic limb reduction defect' 'Intercalary limb defects' SubClassOf 'Non-syndromic limb reduction defect' http://www.orpha.net/ORDO/Orphanet_294931 Adactyly of hand 'Adactyly of hand' SubClassOf 'Terminal limb defects' 'Adactyly of hand' SubClassOf 'Terminal limb defects' http://www.orpha.net/ORDO/Orphanet_294937 Brachydactyly 'Brachydactyly' SubClassOf 'Terminal limb defects' 'Brachydactyly' SubClassOf 'brachydactyly' 'Brachydactyly' SubClassOf 'Terminal limb defects' http://www.orpha.net/ORDO/Orphanet_294935 Split hand or/and split foot malformation 'Split hand or/and split foot malformation' SubClassOf 'dysostosis' http://www.orpha.net/ORDO/Orphanet_294939 Preaxial polydactyly of fingers 'Preaxial polydactyly of fingers' SubClassOf 'Polydactyly' 'Preaxial polydactyly of fingers' SubClassOf 'Polydactyly' http://www.orpha.net/ORDO/Orphanet_314002 Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome 'Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0017582 pituitary adenocarcinoma 'pituitary adenocarcinoma' SubClassOf 'adenocarcinoma' 'pituitary adenocarcinoma' SubClassOf 'pituitary cancer' 'pituitary adenocarcinoma' SubClassOf 'adenocarcinoma' 'pituitary adenocarcinoma' SubClassOf 'pituitary cancer' http://purl.obolibrary.org/obo/MONDO_0017595 aggressive B-cell non-Hodgkin lymphoma 'aggressive B-cell non-Hodgkin lymphoma' SubClassOf 'B-cell non-Hodgkins lymphoma' 'aggressive B-cell non-Hodgkin lymphoma' SubClassOf 'B-cell non-Hodgkins lymphoma' http://purl.obolibrary.org/obo/MONDO_0017594 indolent B-cell non-Hodgkin lymphoma 'indolent B-cell non-Hodgkin lymphoma' SubClassOf 'B-cell non-Hodgkins lymphoma' 'indolent B-cell non-Hodgkin lymphoma' SubClassOf 'B-cell non-Hodgkins lymphoma' http://purl.obolibrary.org/obo/MONDO_0054559 congenital disorder of glycosylation, type IIq 'congenital disorder of glycosylation, type IIq' SubClassOf 'Neurometabolic disease' 'congenital disorder of glycosylation, type IIq' SubClassOf 'Defect in conserved oligomeric Golgi complex' 'congenital disorder of glycosylation, type IIq' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019058 'congenital disorder of glycosylation, type IIq' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017750 http://www.orpha.net/ORDO/Orphanet_42665 Tietz syndrome 'Tietz syndrome' SubClassOf 'Genetic hypopigmentation of the skin' 'Tietz syndrome' SubClassOf 'Pigmentation disorder with eye involvement, excluding albinism' 'Tietz syndrome' SubClassOf 'Syndromic genetic deafness' 'Tietz syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_66634 Dilated cardiomyopathy with ataxia 'Dilated cardiomyopathy with ataxia' SubClassOf '3-methylglutaconic aciduria' 'Dilated cardiomyopathy with ataxia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017359 http://www.orpha.net/ORDO/Orphanet_66633 Sensorineural hearing loss - early graying - essential tremor 'Sensorineural hearing loss - early graying - essential tremor' SubClassOf 'Syndromic genetic deafness' 'Sensorineural hearing loss - early graying - essential tremor' SubClassOf 'movement disorder' 'Sensorineural hearing loss - early graying - essential tremor' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_66630 Congenital pseudoarthrosis of clavicle 'Congenital pseudoarthrosis of clavicle' SubClassOf 'has modifier' some 'congenital' 'Congenital pseudoarthrosis of clavicle' SubClassOf 'Dysostosis of genetic origin' 'Congenital pseudoarthrosis of clavicle' SubClassOf 'Dysostosis of genetic origin' http://www.orpha.net/ORDO/Orphanet_66631 CEDNIK syndrome 'CEDNIK syndrome' SubClassOf 'Autosomal recessive isolated diffuse palmoplantar keratoderma' 'CEDNIK syndrome' SubClassOf 'Autosomal ichthyosis syndrome with fatal disease course' 'CEDNIK syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'CEDNIK syndrome' SubClassOf 'Diffuse palmoplantar keratoderma' 'CEDNIK syndrome' SubClassOf 'Inherited non-syndromic ichthyosis' 'CEDNIK syndrome' SubClassOf 'syndromic intellectual disability' 'CEDNIK syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_66629 Goldberg-Shprintzen megacolon syndrome 'Goldberg-Shprintzen megacolon syndrome' SubClassOf 'Syndromic intestinal malformation' 'Goldberg-Shprintzen megacolon syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Goldberg-Shprintzen megacolon syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Goldberg-Shprintzen megacolon syndrome' SubClassOf 'congenital nervous system disorder' 'Goldberg-Shprintzen megacolon syndrome' SubClassOf 'Ptosis' 'Goldberg-Shprintzen megacolon syndrome' SubClassOf 'Eyelids malposition disorder' 'Goldberg-Shprintzen megacolon syndrome' SubClassOf 'Syndromic anorectal malformation' 'Goldberg-Shprintzen megacolon syndrome' SubClassOf 'Orofacial clefting syndrome' 'Goldberg-Shprintzen megacolon syndrome' SubClassOf 'syndromic intellectual disability' 'Goldberg-Shprintzen megacolon syndrome' SubClassOf 'intestinal motility disease' 'Goldberg-Shprintzen megacolon syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_66628 Obesity due to congenital leptin deficiency 'Obesity due to congenital leptin deficiency' SubClassOf 'Isolated congenital hypogonadotropic hypogonadism' 'Obesity due to congenital leptin deficiency' SubClassOf 'Genetic non-syndromic obesity' 'Obesity due to congenital leptin deficiency' SubClassOf 'Genetic non-syndromic obesity' http://www.orpha.net/ORDO/Orphanet_66625 Cerebro-oculo-nasal syndrome 'Cerebro-oculo-nasal syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Cerebro-oculo-nasal syndrome' SubClassOf 'syndromic intellectual disability' 'Cerebro-oculo-nasal syndrome' SubClassOf 'congenital nervous system disorder' 'Cerebro-oculo-nasal syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0054565 short-rib thoracic dysplasia 17 with or without polydactyly 'short-rib thoracic dysplasia 17 with or without polydactyly' SubClassOf 'Jeune syndrome' 'short-rib thoracic dysplasia 17 with or without polydactyly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018770 http://www.orpha.net/ORDO/Orphanet_42642 PFAPA syndrome 'PFAPA syndrome' SubClassOf 'Autoinflammatory syndrome with immune deficiency' 'PFAPA syndrome' SubClassOf 'hereditary disorder of connective tissue' 'PFAPA syndrome' SubClassOf 'autoinflammatory syndrome' 'PFAPA syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_52022 Potocki-Shaffer syndrome 'Potocki-Shaffer syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' 'Potocki-Shaffer syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 11' 'Potocki-Shaffer syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Potocki-Shaffer syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_314041 Marfanoid habitus - inguinal hernia - advanced bone age 'Marfanoid habitus - inguinal hernia - advanced bone age' SubClassOf 'developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_39041 Omenn syndrome 'Omenn syndrome' SubClassOf 'T-B- severe combined immunodeficiency' 'Omenn syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_314051 Leukoencephalopathy - thalamus and brainstem anomalies - high lactate 'Leukoencephalopathy - thalamus and brainstem anomalies - high lactate' SubClassOf 'Leukodystrophy' 'Leukoencephalopathy - thalamus and brainstem anomalies - high lactate' SubClassOf 'combined oxidative phosphorylation deficiency' 'Leukoencephalopathy - thalamus and brainstem anomalies - high lactate' SubClassOf 'Leukodystrophy' http://www.orpha.net/ORDO/Orphanet_314029 High bone mass osteogenesis imperfecta 'High bone mass osteogenesis imperfecta' SubClassOf 'Osteogenesis imperfecta' http://www.orpha.net/ORDO/Orphanet_66637 Diaphanospondylodysostosis 'Diaphanospondylodysostosis' SubClassOf 'Spondylodysplastic dysplasia' 'Diaphanospondylodysostosis' SubClassOf 'Dysostosis of genetic origin' 'Diaphanospondylodysostosis' SubClassOf 'Spondylodysplastic dysplasia' http://www.orpha.net/ORDO/Orphanet_314034 7p22.1 microduplication syndrome '7p22.1 microduplication syndrome' SubClassOf 'Partial duplication of the short arm of chromosome 7' '7p22.1 microduplication syndrome' SubClassOf 'syndromic intellectual disability' '7p22.1 microduplication syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '7p22.1 microduplication syndrome' SubClassOf 'Rare genetic neurological disorder' '7p22.1 microduplication syndrome' SubClassOf 'congenital nervous system disorder' '7p22.1 microduplication syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_280270 Pelizaeus-Merzbacher-like disease 'Pelizaeus-Merzbacher-like disease' SubClassOf 'Leukodystrophy' 'Pelizaeus-Merzbacher-like disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_280282 Pelizaeus-Merzbacher-like disease due to GJC2 mutation 'Pelizaeus-Merzbacher-like disease due to GJC2 mutation' SubClassOf 'Pelizaeus-Merzbacher-like disease' 'Pelizaeus-Merzbacher-like disease due to GJC2 mutation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017226 http://www.orpha.net/ORDO/Orphanet_280288 Pelizaeus-Merzbacher-like disease due to HSPD1 mutation 'Pelizaeus-Merzbacher-like disease due to HSPD1 mutation' SubClassOf 'Pelizaeus-Merzbacher-like disease' 'Pelizaeus-Merzbacher-like disease due to HSPD1 mutation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017226 http://www.orpha.net/ORDO/Orphanet_52047 Braddock syndrome 'Braddock syndrome' SubClassOf 'pulmonary hypertension' 'Braddock syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Braddock syndrome' SubClassOf 'Genetic hypertension' 'Braddock syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_280293 Pelizaeus-Merzbacher-like disease due to AIMP1 mutation 'Pelizaeus-Merzbacher-like disease due to AIMP1 mutation' SubClassOf 'Pelizaeus-Merzbacher-like disease' 'Pelizaeus-Merzbacher-like disease due to AIMP1 mutation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017226 http://www.orpha.net/ORDO/Orphanet_52055 Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia 'Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia' SubClassOf 'Rare eye disease due to a differentiation anomaly' 'Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia' SubClassOf 'X-linked syndromic intellectual disability' 'Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia' SubClassOf 'congenital nervous system disorder' 'Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia' SubClassOf 'Genetic developmental defect of the eye' 'Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 'Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020145 http://www.orpha.net/ORDO/Orphanet_52056 Ulnar/fibula ray defect - brachydactyly 'Ulnar/fibula ray defect - brachydactyly' SubClassOf 'congenital limb malformation' http://www.orpha.net/ORDO/Orphanet_52054 Craniosynostosis - intracranial calcifications 'Craniosynostosis - intracranial calcifications' SubClassOf 'Syndromic craniosynostosis' 'Craniosynostosis - intracranial calcifications' SubClassOf 'Syndromic craniosynostosis' http://www.orpha.net/ORDO/Orphanet_280224 Pelizaeus-Merzbacher disease, transitional form 'Pelizaeus-Merzbacher disease, transitional form' SubClassOf 'Pelizaeus-Merzbacher disease' 'Pelizaeus-Merzbacher disease, transitional form' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_280229 Pelizaeus-Merzbacher disease in female carriers 'Pelizaeus-Merzbacher disease in female carriers' SubClassOf 'Pelizaeus-Merzbacher disease' 'Pelizaeus-Merzbacher disease in female carriers' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_280234 Null syndrome 'Null syndrome' SubClassOf 'Pelizaeus-Merzbacher disease' 'Null syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0010714 http://www.orpha.net/ORDO/Orphanet_139373 Recessive hereditary methemoglobinemia type 1 'Recessive hereditary methemoglobinemia type 1' SubClassOf 'methemoglobinemia' http://www.orpha.net/ORDO/Orphanet_404568 Dysostosis of genetic origin 'Dysostosis of genetic origin' EquivalentTo 'dysostosis' and ('has modifier' some 'inherited') 'Dysostosis of genetic origin' SubClassOf 'dysostosis' http://www.orpha.net/ORDO/Orphanet_404560 Familial atypical multiple mole melanoma syndrome 'Familial atypical multiple mole melanoma syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' 'Familial atypical multiple mole melanoma syndrome' SubClassOf 'Genetic skin tumor' 'Familial atypical multiple mole melanoma syndrome' SubClassOf 'Genetic skin tumor' http://www.orpha.net/ORDO/Orphanet_139380 Recessive hereditary methemoglobinemia type 2 'Recessive hereditary methemoglobinemia type 2' SubClassOf 'methemoglobinemia' http://www.orpha.net/ORDO/Orphanet_139393 Syndromic craniosynostosis 'Syndromic craniosynostosis' SubClassOf 'syndromic disease' 'Syndromic craniosynostosis' EquivalentTo 'Craniosynostosis' and ('has modifier' some 'has a syndromic presentation') 'Syndromic craniosynostosis' SubClassOf 'Craniosynostosis' 'Syndromic craniosynostosis' SubClassOf 'Craniosynostosis' http://www.orpha.net/ORDO/Orphanet_139390 Isolated craniosynostosis 'Isolated craniosynostosis' SubClassOf 'Craniosynostosis' 'Isolated craniosynostosis' SubClassOf 'has modifier' some 'has an isolated presentation' 'Isolated craniosynostosis' EquivalentTo 'Craniosynostosis' and ('has modifier' some 'has an isolated presentation') 'Isolated craniosynostosis' SubClassOf 'Craniosynostosis' http://www.orpha.net/ORDO/Orphanet_139396 X-linked cerebral adrenoleukodystrophy 'X-linked cerebral adrenoleukodystrophy' SubClassOf 'Syndromic neurometabolic disease with X-linked intellectual disability' 'X-linked cerebral adrenoleukodystrophy' SubClassOf 'X-linked adrenoleukodystrophy' 'X-linked cerebral adrenoleukodystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_139399 Adrenomyeloneuropathy 'Adrenomyeloneuropathy' SubClassOf 'Genetic peripheral neuropathy' 'Adrenomyeloneuropathy' SubClassOf 'X-linked adrenoleukodystrophy' 'Adrenomyeloneuropathy' SubClassOf 'X-linked adrenoleukodystrophy' http://purl.obolibrary.org/obo/MONDO_0023297 guttate psoriasis 'guttate psoriasis' SubClassOf 'psoriasis' 'guttate psoriasis' SubClassOf 'psoriasis' http://www.orpha.net/ORDO/Orphanet_404538 X-linked distal hereditary motor neuropathy 'X-linked distal hereditary motor neuropathy' SubClassOf 'X-linked disease' 'X-linked distal hereditary motor neuropathy' SubClassOf 'Distal spinal muscular atrophy' 'X-linked distal hereditary motor neuropathy' SubClassOf 'Distal hereditary motor neuropathy' 'X-linked distal hereditary motor neuropathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_37553 Cardiodysrhythmic potassium-sensitive periodic paralysis 'Cardiodysrhythmic potassium-sensitive periodic paralysis' SubClassOf 'periodic paralysis' 'Cardiodysrhythmic potassium-sensitive periodic paralysis' SubClassOf 'familial periodic paralysis' 'Cardiodysrhythmic potassium-sensitive periodic paralysis' SubClassOf 'muscular channelopathy' 'Cardiodysrhythmic potassium-sensitive periodic paralysis' SubClassOf 'Familial long QT syndrome' 'Cardiodysrhythmic potassium-sensitive periodic paralysis' SubClassOf 'Genetic cardiac rhythm disease' http://www.orpha.net/ORDO/Orphanet_98505 Genetic motor neuron disease 'Genetic motor neuron disease' EquivalentTo 'motor neuron disease' and ('has modifier' some 'inherited') 'Genetic motor neuron disease' SubClassOf 'Genetic neurodegenerative disease' 'Genetic motor neuron disease' SubClassOf 'motor neuron disease' http://www.orpha.net/ORDO/Orphanet_98518 Cranial nerve and nuclear aplasia 'Cranial nerve and nuclear aplasia' SubClassOf 'Rare genetic neurological disorder' 'Cranial nerve and nuclear aplasia' SubClassOf 'central nervous system malformation' http://www.orpha.net/ORDO/Orphanet_98523 Non-syndromic pontocerebellar hypoplasia 'Non-syndromic pontocerebellar hypoplasia' SubClassOf 'Genetic posterior fossa malformation' 'Non-syndromic pontocerebellar hypoplasia' SubClassOf 'Genetic posterior fossa malformation' http://www.orpha.net/ORDO/Orphanet_284160 8q21.11 microdeletion syndrome '8q21.11 microdeletion syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '8q21.11 microdeletion syndrome' SubClassOf 'congenital nervous system disorder' '8q21.11 microdeletion syndrome' SubClassOf 'syndromic intellectual disability' '8q21.11 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 8' '8q21.11 microdeletion syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '8q21.11 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 8' http://purl.obolibrary.org/obo/MONDO_0001902 congenital agammaglobulinemia 'congenital agammaglobulinemia' SubClassOf 'Agammaglobulinemia' 'congenital agammaglobulinemia' EquivalentTo 'Agammaglobulinemia' and ('has modifier' some 'congenital') 'congenital agammaglobulinemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015977 'congenital agammaglobulinemia' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0015977 and ('has modifier' some 'congenital') http://www.orpha.net/ORDO/Orphanet_284169 10p11.21p12.31 microdeletion syndrome '10p11.21p12.31 microdeletion syndrome' SubClassOf 'facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation' '10p11.21p12.31 microdeletion syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 10' '10p11.21p12.31 microdeletion syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' '10p11.21p12.31 microdeletion syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 10' http://purl.obolibrary.org/obo/MONDO_0013906 amelogenesis imperfecta hypomaturation type 2A4 'amelogenesis imperfecta hypomaturation type 2A4' SubClassOf 'Hypomaturation amelogenesis imperfecta' 'amelogenesis imperfecta hypomaturation type 2A4' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015048 http://www.orpha.net/ORDO/Orphanet_284180 Xp22.13p22.2 duplication syndrome 'Xp22.13p22.2 duplication syndrome' SubClassOf 'congenital nervous system disorder' 'Xp22.13p22.2 duplication syndrome' SubClassOf 'Partial duplication of the short arm of chromosome X' 'Xp22.13p22.2 duplication syndrome' SubClassOf 'syndromic intellectual disability' 'Xp22.13p22.2 duplication syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Xp22.13p22.2 duplication syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Xp22.13p22.2 duplication syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0001926 ureteral disorder 'ureteral disorder' SubClassOf 'abdominal and pelvic region disorder' http://www.orpha.net/ORDO/Orphanet_98584 Malignant tumor of palpebral epidermis 'Malignant tumor of palpebral epidermis' SubClassOf 'eyelid cancer' 'Malignant tumor of palpebral epidermis' SubClassOf 'Rare genetic neurological disorder' 'Malignant tumor of palpebral epidermis' SubClassOf 'genetic skin disease' 'Malignant tumor of palpebral epidermis' SubClassOf 'palpebral epidermal tumor' http://www.orpha.net/ORDO/Orphanet_98583 Precancerous lesion of palpebral epidermis 'Precancerous lesion of palpebral epidermis' SubClassOf 'palpebral epidermal tumor' 'Precancerous lesion of palpebral epidermis' SubClassOf 'precancerous condition' 'Precancerous lesion of palpebral epidermis' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_98586 Pigmented palpebral tumor 'Pigmented palpebral tumor' SubClassOf 'eyelid neoplasm' 'Pigmented palpebral tumor' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_98585 Palpebral sebaceous gland tumor 'Palpebral sebaceous gland tumor' SubClassOf 'eyelid neoplasm' 'Palpebral sebaceous gland tumor' SubClassOf 'genetic skin disease' 'Palpebral sebaceous gland tumor' SubClassOf 'sebaceous gland neoplasm' http://www.orpha.net/ORDO/Orphanet_98588 Palpebral nevus 'Palpebral nevus' SubClassOf 'melanocytic nevus' 'Palpebral nevus' SubClassOf 'Rare genetic neurological disorder' 'Palpebral nevus' SubClassOf 'Pigmented palpebral tumor' 'Palpebral nevus' SubClassOf 'benign tumor of palpebral epidermis' 'Palpebral nevus' SubClassOf 'Pigmented palpebral tumor' http://www.orpha.net/ORDO/Orphanet_98587 Palpebral lentiginosis 'Palpebral lentiginosis' SubClassOf 'lentigo' 'Palpebral lentiginosis' SubClassOf 'palpebral epidermal tumor' 'Palpebral lentiginosis' SubClassOf 'Pigmented palpebral tumor' 'Palpebral lentiginosis' SubClassOf 'Genetic skin tumor' 'Palpebral lentiginosis' SubClassOf 'Pigmented palpebral tumor' http://purl.obolibrary.org/obo/MONDO_0013928 dystonia 23 'dystonia 23' SubClassOf 'Focal, segmental or multifocal dystonia' 'dystonia 23' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015990 http://www.orpha.net/ORDO/Orphanet_262794 Partial duplication of the short arm of chromosome 16 'Partial duplication of the short arm of chromosome 16' SubClassOf 'Partial duplication of chromosome 16' 'Partial duplication of the short arm of chromosome 16' SubClassOf 'Partial duplication of chromosome 16' http://purl.obolibrary.org/obo/MONDO_0013920 herpes simplex encephalitis, susceptibility to, 3 'herpes simplex encephalitis, susceptibility to, 3' SubClassOf 'Herpetic encephalitis' 'herpes simplex encephalitis, susceptibility to, 3' SubClassOf http://purl.obolibrary.org/obo/MONDO_0012521 http://purl.obolibrary.org/obo/MONDO_0013921 herpes simplex encephalitis, susceptibility to, 4 'herpes simplex encephalitis, susceptibility to, 4' SubClassOf 'Herpetic encephalitis' 'herpes simplex encephalitis, susceptibility to, 4' SubClassOf http://purl.obolibrary.org/obo/MONDO_0012521 http://www.orpha.net/ORDO/Orphanet_98591 Mesenchymatous palpebral tumor 'Mesenchymatous palpebral tumor' SubClassOf 'genetic skin disease' 'Mesenchymatous palpebral tumor' SubClassOf 'eyelid neoplasm' http://www.orpha.net/ORDO/Orphanet_98590 Palpebral piliary tumor 'Palpebral piliary tumor' SubClassOf 'genetic skin disease' 'Palpebral piliary tumor' SubClassOf 'eyelid neoplasm' http://www.orpha.net/ORDO/Orphanet_98593 Neurogenic palpebral tumor 'Neurogenic palpebral tumor' SubClassOf 'eyelid neoplasm' 'Neurogenic palpebral tumor' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_262785 Partial duplication of the short arm of chromosome 11 'Partial duplication of the short arm of chromosome 11' SubClassOf 'Partial duplication of chromosome 11' 'Partial duplication of the short arm of chromosome 11' SubClassOf 'Partial duplication of chromosome 11' http://www.orpha.net/ORDO/Orphanet_284139 Larsen-like syndrome, B3GAT3 type 'Larsen-like syndrome, B3GAT3 type' SubClassOf 'Congenital disorder of glycosylation-related bone disorder' 'Larsen-like syndrome, B3GAT3 type' SubClassOf 'Congenital disorder of glycosylation with cardiac malformation as a major feature' 'Larsen-like syndrome, B3GAT3 type' SubClassOf 'Primary bone dysplasia with multiple joint dislocations' 'Larsen-like syndrome, B3GAT3 type' SubClassOf 'Disorder of O-xylosylglycan synthesis' 'Larsen-like syndrome, B3GAT3 type' SubClassOf 'Malformation syndrome with connective tissue involvement' 'Larsen-like syndrome, B3GAT3 type' SubClassOf 'heart disease' 'Larsen-like syndrome, B3GAT3 type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_262767 Partial trisomy of the short arm of chromosome 9 'Partial trisomy of the short arm of chromosome 9' SubClassOf 'Partial trisomy/tetrasomy of chromosome 9' 'Partial trisomy of the short arm of chromosome 9' SubClassOf 'Partial trisomy/tetrasomy of chromosome 9' http://www.orpha.net/ORDO/Orphanet_262776 Partial duplication of the short arm of chromosome 10 'Partial duplication of the short arm of chromosome 10' SubClassOf 'Partial duplication of chromosome 10' 'Partial duplication of the short arm of chromosome 10' SubClassOf 'Partial duplication of chromosome 10' http://www.orpha.net/ORDO/Orphanet_284149 Craniosynostosis and dental anomalies 'Craniosynostosis and dental anomalies' SubClassOf 'Syndromic craniosynostosis' 'Craniosynostosis and dental anomalies' SubClassOf 'Syndromic craniosynostosis' http://www.orpha.net/ORDO/Orphanet_98555 Anophthalmia - microphthalmia 'Anophthalmia - microphthalmia' SubClassOf 'Major induction processes eye anomaly' 'Anophthalmia - microphthalmia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98554 Major induction processes eye anomaly 'Major induction processes eye anomaly' SubClassOf 'Genetic developmental defect of the eye' 'Major induction processes eye anomaly' SubClassOf 'Genetic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_98557 Syndromic aniridia 'Syndromic aniridia' SubClassOf 'Aniridia' 'Syndromic aniridia' SubClassOf 'Isolated aniridia' 'Syndromic aniridia' SubClassOf 'Iridogoniodysgenesis' 'Syndromic aniridia' EquivalentTo 'Aniridia' and ('has modifier' some 'has a syndromic presentation') 'Syndromic aniridia' SubClassOf 'Syndromic cataract' 'Syndromic aniridia' SubClassOf 'Aniridia' 'Syndromic aniridia' SubClassOf 'Syndromic cataract' http://www.orpha.net/ORDO/Orphanet_98558 Rare eye disease due to a differentiation anomaly 'Rare eye disease due to a differentiation anomaly' SubClassOf 'Genetic developmental defect of the eye' 'Rare eye disease due to a differentiation anomaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98562 Cryptophthalmia 'Cryptophthalmia' SubClassOf 'eyelid disease' http://purl.obolibrary.org/obo/MONDO_0013972 Perrault syndrome 2 'Perrault syndrome 2' SubClassOf 'Perrault syndrome' 'Perrault syndrome 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017312 http://purl.obolibrary.org/obo/MONDO_0037940 inherited auditory system disease 'inherited auditory system disease' SubClassOf 'Rare genetic neurological disorder' 'inherited auditory system disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.orpha.net/ORDO/Orphanet_98564 Eyelid border anomaly 'Eyelid border anomaly' SubClassOf 'eyelid disease' http://www.orpha.net/ORDO/Orphanet_98563 Microblepharon - ablephara 'Microblepharon - ablephara' SubClassOf 'eyelid disease' http://www.orpha.net/ORDO/Orphanet_98566 Syndromic palpebral coloboma 'Syndromic palpebral coloboma' SubClassOf 'syndromic disease' 'Syndromic palpebral coloboma' SubClassOf 'Eyelid border anomaly' 'Syndromic palpebral coloboma' SubClassOf 'Eyelid border anomaly' http://www.orpha.net/ORDO/Orphanet_98565 Syndromic ankyloblepharon 'Syndromic ankyloblepharon' SubClassOf 'Eyelid border anomaly' 'Syndromic ankyloblepharon' SubClassOf 'Eyelid border anomaly' http://www.orpha.net/ORDO/Orphanet_98568 Congenital entropion 'Congenital entropion' SubClassOf 'has modifier' some 'congenital' 'Congenital entropion' SubClassOf 'entropion' 'Congenital entropion' SubClassOf 'Eyelids malposition disorder' 'Congenital entropion' SubClassOf 'Eyelids malposition disorder' http://www.orpha.net/ORDO/Orphanet_98567 Eyelids malposition disorder 'Eyelids malposition disorder' SubClassOf 'has modifier' some 'rare' 'Eyelids malposition disorder' SubClassOf 'eyelid disease' http://www.orpha.net/ORDO/Orphanet_98569 Secondary entropion 'Secondary entropion' SubClassOf 'Congenital entropion' 'Secondary entropion' SubClassOf 'Congenital entropion' http://www.orpha.net/ORDO/Orphanet_98573 Epicanthal fold 'Epicanthal fold' SubClassOf 'Canthal anomaly' 'Epicanthal fold' SubClassOf 'Canthal anomaly' http://www.orpha.net/ORDO/Orphanet_98572 Canthal anomaly 'Canthal anomaly' SubClassOf 'eyelid disease' 'Canthal anomaly' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_98575 Telecanthus 'Telecanthus' SubClassOf 'Canthal anomaly' 'Telecanthus' SubClassOf 'Canthal anomaly' http://www.orpha.net/ORDO/Orphanet_98574 Syndromic epicanthus 'Syndromic epicanthus' SubClassOf 'syndromic disease' 'Syndromic epicanthus' SubClassOf 'Epicanthal fold' 'Syndromic epicanthus' SubClassOf 'Epicanthal fold' http://www.orpha.net/ORDO/Orphanet_98576 Malposition of external canthus 'Malposition of external canthus' SubClassOf 'Canthal anomaly' 'Malposition of external canthus' SubClassOf 'Canthal anomaly' http://www.orpha.net/ORDO/Orphanet_247198 Progressive cerebello-cerebral atrophy 'Progressive cerebello-cerebral atrophy' SubClassOf 'Rare genetic neurological disorder' 'Progressive cerebello-cerebral atrophy' SubClassOf 'disorder of development or morphogenesis' http://www.orpha.net/ORDO/Orphanet_98571 Secondary ectropion 'Secondary ectropion' SubClassOf 'Eyelids malposition disorder' 'Secondary ectropion' SubClassOf 'Eyelids malposition disorder' http://www.orpha.net/ORDO/Orphanet_98570 Congenital ectropion 'Congenital ectropion' SubClassOf 'Eyelids malposition disorder' 'Congenital ectropion' SubClassOf 'has modifier' some 'congenital' 'Congenital ectropion' SubClassOf 'ectropion' 'Congenital ectropion' SubClassOf 'Eyelids malposition disorder' http://www.orpha.net/ORDO/Orphanet_308712 Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form 'Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form' SubClassOf 'Glycogen storage disease due to glycogen branching enzyme deficiency' 'Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form' SubClassOf 'Glycogen storage disease due to glycogen branching enzyme deficiency' http://www.orpha.net/ORDO/Orphanet_262716 Partial duplication of the short arm of chromosome 4 'Partial duplication of the short arm of chromosome 4' SubClassOf 'Partial duplication of chromosome 4' 'Partial duplication of the short arm of chromosome 4' SubClassOf 'Partial duplication of chromosome 4' http://www.orpha.net/ORDO/Orphanet_262707 Partial duplication of the short arm of chromosome 3 'Partial duplication of the short arm of chromosome 3' SubClassOf 'Partial duplication of chromosome 3' 'Partial duplication of the short arm of chromosome 3' SubClassOf 'Partial duplication of chromosome 3' http://www.orpha.net/ORDO/Orphanet_262758 Partial duplication of the short arm of chromosome 8 'Partial duplication of the short arm of chromosome 8' SubClassOf 'Partial duplication of chromosome 8' 'Partial duplication of the short arm of chromosome 8' SubClassOf 'Partial duplication of chromosome 8' http://www.orpha.net/ORDO/Orphanet_404521 Spinal muscular atrophy with respiratory distress type 2 'Spinal muscular atrophy with respiratory distress type 2' SubClassOf 'X-linked distal hereditary motor neuropathy' 'Spinal muscular atrophy with respiratory distress type 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018451 http://purl.obolibrary.org/obo/MONDO_0011377 long QT syndrome 3 'long QT syndrome 3' SubClassOf 'Familial long QT syndrome' 'long QT syndrome 3' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019171 http://www.orpha.net/ORDO/Orphanet_262749 Partial duplication of the short arm of chromosome 7 'Partial duplication of the short arm of chromosome 7' SubClassOf 'Partial duplication of chromosome 7' 'Partial duplication of the short arm of chromosome 7' SubClassOf 'Partial duplication of chromosome 7' http://purl.obolibrary.org/obo/MONDO_0011383 autoimmune lymphoproliferative syndrome type 2A 'autoimmune lymphoproliferative syndrome type 2A' SubClassOf 'Autoimmune lymphoproliferative syndrome' 'autoimmune lymphoproliferative syndrome type 2A' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017979 http://www.orpha.net/ORDO/Orphanet_262740 Partial duplication of the short arm of chromosome 6 'Partial duplication of the short arm of chromosome 6' SubClassOf 'Partial duplication of chromosome 6' 'Partial duplication of the short arm of chromosome 6' SubClassOf 'Partial duplication of chromosome 6' http://www.orpha.net/ORDO/Orphanet_262725 Partial trisomy/tetrasomy of the short arm of chromosome 5 'Partial trisomy/tetrasomy of the short arm of chromosome 5' SubClassOf 'Partial trisomy/tetrasomy of chromosome 5' 'Partial trisomy/tetrasomy of the short arm of chromosome 5' SubClassOf 'Partial trisomy/tetrasomy of chromosome 5' http://purl.obolibrary.org/obo/MONDO_0011173 thrombocythemia 2 'thrombocythemia 2' SubClassOf 'Familial thrombocytosis' 'thrombocythemia 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019111 http://purl.obolibrary.org/obo/MONDO_0011182 trimethylaminuria 'trimethylaminuria' SubClassOf 'Dimethylglycine dehydrogenase deficiency' 'trimethylaminuria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0011610 http://www.orpha.net/ORDO/Orphanet_402003 Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering 'Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering' SubClassOf 'Hereditary palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0011190 nephronophthisis 2 'nephronophthisis 2' SubClassOf 'Nephronophthisis' 'nephronophthisis 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019005 http://purl.obolibrary.org/obo/MONDO_0011193 cone dystrophy 3 'cone dystrophy 3' SubClassOf 'Progressive cone dystrophy' 'cone dystrophy 3' SubClassOf 'Cone rod dystrophy' 'cone dystrophy 3' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015993 'cone dystrophy 3' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000455 http://www.orpha.net/ORDO/Orphanet_331190 Immunodeficiency due to ficolin3 deficiency 'Immunodeficiency due to ficolin3 deficiency' SubClassOf 'disorder of lectin complement activation pathway' http://www.orpha.net/ORDO/Orphanet_331187 Immunodeficiency due to MASP-2 deficiency 'Immunodeficiency due to MASP-2 deficiency' SubClassOf 'disorder of lectin complement activation pathway' http://www.orpha.net/ORDO/Orphanet_331176 Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency 'Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency' SubClassOf 'autosomal recessive severe congenital neutropenia' 'Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency' SubClassOf 'Severe congenital neutropenia' http://www.orpha.net/ORDO/Orphanet_402041 Autosomal recessive distal renal tubular acidosis 'Autosomal recessive distal renal tubular acidosis' SubClassOf 'Syndromic genetic deafness' 'Autosomal recessive distal renal tubular acidosis' SubClassOf 'Distal renal tubular acidosis' 'Autosomal recessive distal renal tubular acidosis' SubClassOf 'autosomal recessive disease' 'Autosomal recessive distal renal tubular acidosis' SubClassOf 'Syndromic genetic deafness' 'Autosomal recessive distal renal tubular acidosis' SubClassOf 'Distal renal tubular acidosis' http://www.orpha.net/ORDO/Orphanet_402082 Progressive myoclonic epilepsy type 5 'Progressive myoclonic epilepsy type 5' SubClassOf 'Progressive myoclonic epilepsy' 'Progressive myoclonic epilepsy type 5' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_402075 Familial bicuspid aortic valve 'Familial bicuspid aortic valve' SubClassOf 'aortic valve disease' 'Familial bicuspid aortic valve' SubClassOf 'Genetic cardiac anomaly' 'Familial bicuspid aortic valve' SubClassOf 'aortic malformation' 'Familial bicuspid aortic valve' SubClassOf 'Genetic cardiac anomaly' http://www.orpha.net/ORDO/Orphanet_262682 Partial trisomy/tetrasomy of chromosome 18 'Partial trisomy/tetrasomy of chromosome 18' SubClassOf 'chromosome 18 disorder' 'Partial trisomy/tetrasomy of chromosome 18' SubClassOf 'Partial autosomal trisomy/tetrasomy' 'Partial trisomy/tetrasomy of chromosome 18' SubClassOf 'syndrome caused by partial chromosomal duplication' 'Partial trisomy/tetrasomy of chromosome 18' SubClassOf 'Partial autosomal trisomy/tetrasomy' http://www.orpha.net/ORDO/Orphanet_98464 X-linked syndromic intellectual disability 'X-linked syndromic intellectual disability' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'X-linked syndromic intellectual disability' SubClassOf 'syndromic intellectual disability' 'X-linked syndromic intellectual disability' SubClassOf 'X-linked intellectual disability' 'X-linked syndromic intellectual disability' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_262687 Partial duplication of chromosome 19 'Partial duplication of chromosome 19' SubClassOf 'Partial autosomal trisomy/tetrasomy' 'Partial duplication of chromosome 19' SubClassOf 'syndrome caused by partial chromosomal duplication' 'Partial duplication of chromosome 19' SubClassOf 'chromosome 19 disorder' 'Partial duplication of chromosome 19' SubClassOf 'Partial autosomal trisomy/tetrasomy' http://www.orpha.net/ORDO/Orphanet_298644 Disorder of thiamine metabolism and transport 'Disorder of thiamine metabolism and transport' SubClassOf 'Disorder of vitamin and non-protein cofactor absorption and transport ' 'Disorder of thiamine metabolism and transport' SubClassOf 'Disorder of vitamin and non-protein cofactor absorption and transport ' http://www.orpha.net/ORDO/Orphanet_98473 Muscular dystrophy 'Muscular dystrophy' SubClassOf 'Genetic skeletal muscle disease' 'Muscular dystrophy' SubClassOf 'myopathy' 'Muscular dystrophy' SubClassOf 'neuromuscular disease' 'Muscular dystrophy' SubClassOf 'Genetic skeletal muscle disease' http://www.orpha.net/ORDO/Orphanet_262672 Partial duplication of chromosome 16 'Partial duplication of chromosome 16' SubClassOf 'chromosome 16 disorder' 'Partial duplication of chromosome 16' SubClassOf 'syndrome caused by partial chromosomal duplication' 'Partial duplication of chromosome 16' SubClassOf 'Partial autosomal trisomy/tetrasomy' 'Partial duplication of chromosome 16' SubClassOf 'Partial autosomal trisomy/tetrasomy' http://www.orpha.net/ORDO/Orphanet_262677 Partial duplication of chromosome 17 'Partial duplication of chromosome 17' SubClassOf 'Partial autosomal trisomy/tetrasomy' 'Partial duplication of chromosome 17' SubClassOf 'syndrome caused by partial chromosomal duplication' 'Partial duplication of chromosome 17' SubClassOf 'chromosome 17 disorder' 'Partial duplication of chromosome 17' SubClassOf 'Partial autosomal trisomy/tetrasomy' http://purl.obolibrary.org/obo/MONDO_0001823 sick sinus syndrome 'sick sinus syndrome' SubClassOf 'syndromic disease' 'sick sinus syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0001822 hypolipoproteinemia 'hypolipoproteinemia' SubClassOf 'Disorder of lipid metabolism' 'hypolipoproteinemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002525 http://purl.obolibrary.org/obo/MONDO_0001828 acquired color blindness 'acquired color blindness' EquivalentTo 'Color-vision disease' and ('has modifier' some 'acquired') 'acquired color blindness' SubClassOf 'Color-vision disease' 'acquired color blindness' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001703 'acquired color blindness' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0001703 and ('has modifier' some 'acquired') http://www.orpha.net/ORDO/Orphanet_262658 Partial trisomy/tetrasomy of the short arm of chromosome 12 'Partial trisomy/tetrasomy of the short arm of chromosome 12' SubClassOf 'partial duplication of chromosome 12' 'Partial trisomy/tetrasomy of the short arm of chromosome 12' SubClassOf 'Partial autosomal trisomy/tetrasomy' http://www.orpha.net/ORDO/Orphanet_98486 Metabolic myopathy 'Metabolic myopathy' SubClassOf 'Non-dystrophic myopathy' 'Metabolic myopathy' SubClassOf 'Non-dystrophic myopathy' http://purl.obolibrary.org/obo/MONDO_0013810 COG6-CGD 'COG6-CGD' SubClassOf 'Defect in conserved oligomeric Golgi complex' 'COG6-CGD' SubClassOf 'congenital disorder of glycosylation type II' 'COG6-CGD' SubClassOf 'Neurometabolic disease' 'COG6-CGD' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019058 'COG6-CGD' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017750 'COG6-CGD' SubClassOf 'congenital disorder of glycosylation type II' http://purl.obolibrary.org/obo/MONDO_0013824 Joubert syndrome 17 'Joubert syndrome 17' SubClassOf 'Joubert syndrome' 'Joubert syndrome 17' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018772 http://www.orpha.net/ORDO/Orphanet_262648 Partial duplication of chromosome 10 'Partial duplication of chromosome 10' SubClassOf 'Partial autosomal trisomy/tetrasomy' 'Partial duplication of chromosome 10' SubClassOf 'chromosome 10 disorder' 'Partial duplication of chromosome 10' SubClassOf 'syndrome caused by partial chromosomal duplication' 'Partial duplication of chromosome 10' SubClassOf 'Partial autosomal trisomy/tetrasomy' http://www.orpha.net/ORDO/Orphanet_98495 Genetic neuromuscular junction disease 'Genetic neuromuscular junction disease' SubClassOf 'neuromuscular disease' 'Genetic neuromuscular junction disease' SubClassOf 'synaptopathy' http://www.orpha.net/ORDO/Orphanet_98497 Genetic peripheral neuropathy 'Genetic peripheral neuropathy' SubClassOf 'Rare genetic neurological disorder' 'Genetic peripheral neuropathy' SubClassOf 'peripheral neuropathy' 'Genetic peripheral neuropathy' EquivalentTo 'peripheral neuropathy' and ('has modifier' some 'inherited') 'Genetic peripheral neuropathy' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_262653 Partial duplication of chromosome 11 'Partial duplication of chromosome 11' SubClassOf 'Partial autosomal trisomy/tetrasomy' 'Partial duplication of chromosome 11' SubClassOf 'chromosome 11 disorder' 'Partial duplication of chromosome 11' SubClassOf 'syndrome caused by partial chromosomal duplication' 'Partial duplication of chromosome 11' SubClassOf 'Partial autosomal trisomy/tetrasomy' http://purl.obolibrary.org/obo/MONDO_0001847 nuclear senile cataract 'nuclear senile cataract' SubClassOf 'senile cataract' 'nuclear senile cataract' SubClassOf 'senile cataract' http://www.orpha.net/ORDO/Orphanet_98415 Vitamin B12- and folate-independent constitutional megaloblastic anemia 'Vitamin B12- and folate-independent constitutional megaloblastic anemia' SubClassOf 'Constitutional deficiency anemia' 'Vitamin B12- and folate-independent constitutional megaloblastic anemia' SubClassOf 'megaloblastic anemia' 'Vitamin B12- and folate-independent constitutional megaloblastic anemia' SubClassOf 'Constitutional deficiency anemia' http://www.orpha.net/ORDO/Orphanet_369840 Autosomal recessive limb-girdle muscular dystrophy type 2S 'Autosomal recessive limb-girdle muscular dystrophy type 2S' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2S' SubClassOf 'Intellectual disability-hyperkinetic movement-truncal ataxia syndrome' 'Autosomal recessive limb-girdle muscular dystrophy type 2S' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0001858 Tietze syndrome 'Tietze syndrome' SubClassOf 'syndromic disease' 'Tietze syndrome' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome 'Intellectual disability-hyperkinetic movement-truncal ataxia syndrome' SubClassOf 'has modifier' some 'rare' 'Intellectual disability-hyperkinetic movement-truncal ataxia syndrome' SubClassOf 'syndromic intellectual disability' 'Intellectual disability-hyperkinetic movement-truncal ataxia syndrome' SubClassOf 'movement disorder' http://www.orpha.net/ORDO/Orphanet_98428 Secondary polycythemia 'Secondary polycythemia' SubClassOf 'polycythemia' http://www.orpha.net/ORDO/Orphanet_98434 Hereditary combined deficiency of vitamin K-dependent clotting factors 'Hereditary combined deficiency of vitamin K-dependent clotting factors' SubClassOf 'Congenital vitamin K-dependent coagulation factors deficiency' 'Hereditary combined deficiency of vitamin K-dependent clotting factors' SubClassOf 'Disorder of other vitamins and cofactors metabolism and transport' 'Hereditary combined deficiency of vitamin K-dependent clotting factors' SubClassOf 'Congenital vitamin K-dependent coagulation factors deficiency' 'Hereditary combined deficiency of vitamin K-dependent clotting factors' SubClassOf 'Disorder of other vitamins and cofactors metabolism and transport' http://www.orpha.net/ORDO/Orphanet_369837 Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome 'Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome' SubClassOf 'multiple congenital anomalies-hypotonia-seizures syndrome' 'Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome' SubClassOf 'Rare syndromic dyslipidemia' 'Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome' SubClassOf 'Congenital disorder of glycosylation-related bone disorder' 'Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome' SubClassOf 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' 'Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome' SubClassOf 'congenital nervous system disorder' 'Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome' SubClassOf 'Slender bone dysplasia' 'Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome' SubClassOf 'syndromic intellectual disability' 'Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome' SubClassOf 'Slender bone dysplasia' http://www.orpha.net/ORDO/Orphanet_369861 Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome 'Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome' SubClassOf 'Immunodeficiency predominantly affecting antibody production' 'Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome' SubClassOf 'Constitutional sideroblastic anemia' 'Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome' SubClassOf 'Constitutional sideroblastic anemia' http://www.orpha.net/ORDO/Orphanet_369867 Autosomal recessive intermediate Charcot-Marie-Tooth disease type C 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type C' SubClassOf 'Autosomal recessive intermediate Charcot-Marie-Tooth disease' 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type C' SubClassOf 'Autosomal recessive intermediate Charcot-Marie-Tooth disease' http://www.orpha.net/ORDO/Orphanet_262692 Partial trisomy of chromosome 20 'Partial trisomy of chromosome 20' SubClassOf 'chromosome 20 disorder' 'Partial trisomy of chromosome 20' SubClassOf 'syndrome caused by partial chromosomal duplication' 'Partial trisomy of chromosome 20' SubClassOf 'Partial autosomal trisomy/tetrasomy' 'Partial trisomy of chromosome 20' SubClassOf 'Partial autosomal trisomy/tetrasomy' http://purl.obolibrary.org/obo/MONDO_0013862 immunodeficiency, common variable, 7 'immunodeficiency, common variable, 7' SubClassOf 'Common variable immunodeficiency' 'immunodeficiency, common variable, 7' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015517 http://purl.obolibrary.org/obo/MONDO_0013860 idiopathic membranous glomerulonephritis 'idiopathic membranous glomerulonephritis' SubClassOf 'Primary glomerular disease' 'idiopathic membranous glomerulonephritis' SubClassOf 'membranous glomerulonephritis' 'idiopathic membranous glomerulonephritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015163 'idiopathic membranous glomerulonephritis' SubClassOf 'membranous glomerulonephritis' http://www.orpha.net/ORDO/Orphanet_98456 Dense granule disease 'Dense granule disease' SubClassOf 'syndromic constitutional thrombocytopenia' http://www.orpha.net/ORDO/Orphanet_98455 Alpha granule disease 'Alpha granule disease' SubClassOf 'Inherited giant platelet disorder' http://www.orpha.net/ORDO/Orphanet_262698 Partial duplication of the short arm of chromosome 2 'Partial duplication of the short arm of chromosome 2' SubClassOf 'Partial duplication of chromosome 2' 'Partial duplication of the short arm of chromosome 2' SubClassOf 'Partial duplication of chromosome 2' http://www.orpha.net/ORDO/Orphanet_369852 Recurrent infections-myelofibrosis-nephromegaly syndrome 'Recurrent infections-myelofibrosis-nephromegaly syndrome' SubClassOf 'autosomal recessive severe congenital neutropenia' http://purl.obolibrary.org/obo/MONDO_0011216 hemochromatosis type 2A 'hemochromatosis type 2A' SubClassOf 'Hemochromatosis type 2' 'hemochromatosis type 2A' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019257 http://purl.obolibrary.org/obo/MONDO_0011213 Pierpont syndrome 'Pierpont syndrome' SubClassOf 'Rare genetic neurological disorder' 'Pierpont syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Pierpont syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015159 'Pierpont syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 'Pierpont syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043005 http://purl.obolibrary.org/obo/MONDO_0013877 mitochondrial pyruvate carrier deficiency 'mitochondrial pyruvate carrier deficiency' SubClassOf 'Pyruvate metabolism disorder' 'mitochondrial pyruvate carrier deficiency' SubClassOf 'Cerebral organic aciduria' 'mitochondrial pyruvate carrier deficiency' SubClassOf 'Neurometabolic disease' 'mitochondrial pyruvate carrier deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016789 'mitochondrial pyruvate carrier deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019213 'mitochondrial pyruvate carrier deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019058 http://purl.obolibrary.org/obo/MONDO_0023206 functional pancreatic neuroendocrine tumor 'functional pancreatic neuroendocrine tumor' SubClassOf 'pancreatic neuroendocrine tumor' 'functional pancreatic neuroendocrine tumor' SubClassOf 'pancreatic neuroendocrine tumor' http://www.orpha.net/ORDO/Orphanet_211017 Spinocerebellar ataxia type 30 'Spinocerebellar ataxia type 30' SubClassOf 'Autosomal dominant cerebellar ataxia type 3' 'Spinocerebellar ataxia type 30' SubClassOf 'Autosomal dominant cerebellar ataxia type 3' http://purl.obolibrary.org/obo/MONDO_0013885 Malan overgrowth syndrome 'Malan overgrowth syndrome' SubClassOf 'Sotos syndrome' 'Malan overgrowth syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019349 http://purl.obolibrary.org/obo/MONDO_0023224 inherited reflex epilepsy 'inherited reflex epilepsy' SubClassOf 'Rare genetic neurological disorder' 'inherited reflex epilepsy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.orpha.net/ORDO/Orphanet_211037 Autosomal dominant proximal spinal muscular atrophy 'Autosomal dominant proximal spinal muscular atrophy' SubClassOf 'Proximal spinal muscular atrophy' 'Autosomal dominant proximal spinal muscular atrophy' SubClassOf 'autosomal dominant disease' 'Autosomal dominant proximal spinal muscular atrophy' SubClassOf 'Genetic motor neuron disease' http://purl.obolibrary.org/obo/MONDO_0037858 inherited fatty acid metabolism disorder 'inherited fatty acid metabolism disorder' SubClassOf 'Disorder of lipid metabolism' 'inherited fatty acid metabolism disorder' SubClassOf 'Organic aciduria' 'inherited fatty acid metabolism disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002525 'inherited fatty acid metabolism disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000688 http://www.orpha.net/ORDO/Orphanet_331235 Selective IgM deficiency 'Selective IgM deficiency' SubClassOf 'Immunodeficiency predominantly affecting antibody production' 'Selective IgM deficiency' SubClassOf 'dysgammaglobulinemia' http://purl.obolibrary.org/obo/MONDO_0011242 Bartter disease type 4a 'Bartter disease type 4a' SubClassOf 'Infantile Bartter syndrome with sensorineural deafness' 'Bartter disease type 4a' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019524 http://www.orpha.net/ORDO/Orphanet_331220 Immunodeficiency due to absence of thymus 'Immunodeficiency due to absence of thymus' SubClassOf 'Other immunodeficiency syndrome due to defects in adaptive immunity' 'Immunodeficiency due to absence of thymus' SubClassOf 'immunodeficiency disease' http://www.orpha.net/ORDO/Orphanet_331223 Hyper-IgE syndrome 'Hyper-IgE syndrome' SubClassOf 'Other immunodeficiency syndrome due to defects in adaptive immunity' 'Hyper-IgE syndrome' SubClassOf 'hyperimmunoglobulin syndrome' 'Hyper-IgE syndrome' SubClassOf 'immunodeficiency disease' http://www.orpha.net/ORDO/Orphanet_262638 Partial duplication of chromosome 8 'Partial duplication of chromosome 8' SubClassOf 'Partial autosomal trisomy/tetrasomy' 'Partial duplication of chromosome 8' SubClassOf 'syndrome caused by partial chromosomal duplication' 'Partial duplication of chromosome 8' SubClassOf 'chromosome 8 disorder' 'Partial duplication of chromosome 8' SubClassOf 'Partial autosomal trisomy/tetrasomy' http://www.orpha.net/ORDO/Orphanet_331226 Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency 'Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency' SubClassOf 'Genetic susceptibility to infections due to particular pathogens' http://www.orpha.net/ORDO/Orphanet_262643 Partial trisomy/tetrasomy of chromosome 9 'Partial trisomy/tetrasomy of chromosome 9' SubClassOf 'chromosome 9 disorder' 'Partial trisomy/tetrasomy of chromosome 9' SubClassOf 'syndrome caused by partial chromosomal duplication' 'Partial trisomy/tetrasomy of chromosome 9' SubClassOf 'Partial autosomal trisomy/tetrasomy' 'Partial trisomy/tetrasomy of chromosome 9' SubClassOf 'Partial autosomal trisomy/tetrasomy' http://www.orpha.net/ORDO/Orphanet_331217 Other immunodeficiency syndrome due to defects in adaptive immunity 'Other immunodeficiency syndrome due to defects in adaptive immunity' SubClassOf 'Primary immunodeficiency due to a defect in adaptive immunity' 'Other immunodeficiency syndrome due to defects in adaptive immunity' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_262628 Partial duplication of chromosome 6 'Partial duplication of chromosome 6' SubClassOf 'chromosome 6 disorder' 'Partial duplication of chromosome 6' SubClassOf 'syndrome caused by partial chromosomal duplication' 'Partial duplication of chromosome 6' SubClassOf 'Partial autosomal trisomy/tetrasomy' 'Partial duplication of chromosome 6' SubClassOf 'Partial autosomal trisomy/tetrasomy' http://www.orpha.net/ORDO/Orphanet_262633 Partial duplication of chromosome 7 'Partial duplication of chromosome 7' SubClassOf 'Partial autosomal trisomy/tetrasomy' 'Partial duplication of chromosome 7' SubClassOf 'chromosome 7 disorder' 'Partial duplication of chromosome 7' SubClassOf 'syndrome caused by partial chromosomal duplication' 'Partial duplication of chromosome 7' SubClassOf 'Partial autosomal trisomy/tetrasomy' http://www.orpha.net/ORDO/Orphanet_331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency 'Severe combined immunodeficiency due to complete RAG1/2 deficiency' SubClassOf 'T-B- severe combined immunodeficiency' 'Severe combined immunodeficiency due to complete RAG1/2 deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0011271 rigid spine muscular dystrophy 1 'rigid spine muscular dystrophy 1' SubClassOf 'Rigid spine syndrome' 'rigid spine muscular dystrophy 1' SubClassOf 'Multiminicore myopathy' 'rigid spine muscular dystrophy 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019951 'rigid spine muscular dystrophy 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018948 http://purl.obolibrary.org/obo/MONDO_0023258 glycogen storage disease type 1 due to SLC37A4 mutation 'glycogen storage disease type 1 due to SLC37A4 mutation' SubClassOf 'Glycogen storage disease due to glucose-6-phosphatase deficiency' 'glycogen storage disease type 1 due to SLC37A4 mutation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002413 http://www.orpha.net/ORDO/Orphanet_211062 Hereditary episodic ataxia 'Hereditary episodic ataxia' SubClassOf 'hereditary ataxia' http://www.orpha.net/ORDO/Orphanet_211067 Episodic ataxia type 5 'Episodic ataxia type 5' SubClassOf 'Hereditary episodic ataxia' 'Episodic ataxia type 5' SubClassOf 'Hereditary episodic ataxia' http://purl.obolibrary.org/obo/MONDO_0011283 mitochondrial DNA depletion syndrome 1 'mitochondrial DNA depletion syndrome 1' SubClassOf 'Mitochondrial DNA depletion syndrome' 'mitochondrial DNA depletion syndrome 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018158 http://www.ebi.ac.uk/efo/EFO_0008528 urothelial carcinoma 'urothelial carcinoma' SubClassOf 'Transitional Cell Carcinoma' 'urothelial carcinoma' SubClassOf 'Transitional Cell Carcinoma' http://www.ebi.ac.uk/efo/EFO_0008524 small cell carcinoma 'small cell carcinoma' SubClassOf 'neuroendocrine carcinoma' 'small cell carcinoma' SubClassOf 'neuroendocrine carcinoma' http://www.ebi.ac.uk/efo/EFO_0008525 spinal muscular atrophy 'spinal muscular atrophy' SubClassOf 'anterior horn disorder' 'spinal muscular atrophy' SubClassOf 'anterior horn disorder' http://purl.obolibrary.org/obo/MONDO_0023069 enlarged vestibular aqueduct syndrome 'enlarged vestibular aqueduct syndrome' SubClassOf 'syndromic disease' 'enlarged vestibular aqueduct syndrome' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_35107 Desmosterolosis 'Desmosterolosis' SubClassOf 'Neonatal osteosclerotic dysplasia' 'Desmosterolosis' SubClassOf 'cholesterol biosynthetic process disease' 'Desmosterolosis' SubClassOf 'Neonatal osteosclerotic dysplasia' 'Desmosterolosis' SubClassOf 'Sterol biosynthesis disorder' http://purl.obolibrary.org/obo/MONDO_0011071 hereditary thrombocytopenia and hematologic cancer predisposition syndrome 'hereditary thrombocytopenia and hematologic cancer predisposition syndrome' SubClassOf 'Rare genetic coagulation disorder' 'hereditary thrombocytopenia and hematologic cancer predisposition syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' 'hereditary thrombocytopenia and hematologic cancer predisposition syndrome' SubClassOf 'Dense granule disease' 'hereditary thrombocytopenia and hematologic cancer predisposition syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015356 'hereditary thrombocytopenia and hematologic cancer predisposition syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021181 'hereditary thrombocytopenia and hematologic cancer predisposition syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020118 http://www.ebi.ac.uk/efo/EFO_0008545 Malignant Breast Phyllodes Tumor 'Malignant Breast Phyllodes Tumor' SubClassOf 'breast phyllodes tumor' 'Malignant Breast Phyllodes Tumor' SubClassOf 'malignant phyllodes tumor' 'Malignant Breast Phyllodes Tumor' SubClassOf 'breast phyllodes tumor' 'Malignant Breast Phyllodes Tumor' SubClassOf 'malignant phyllodes tumor' http://www.ebi.ac.uk/efo/EFO_0008549 digestive system neoplasm 'digestive system neoplasm' SubClassOf 'neoplasm' 'digestive system neoplasm' SubClassOf 'neoplasm' http://www.orpha.net/ORDO/Orphanet_35122 Congenital sucrase-isomaltase deficiency 'Congenital sucrase-isomaltase deficiency' SubClassOf 'Disorder of carbohydrate absorption and transport' 'Congenital sucrase-isomaltase deficiency' SubClassOf 'intestinal disaccharide deficiency and disaccharide malabsorption' 'Congenital sucrase-isomaltase deficiency' SubClassOf 'has modifier' some 'congenital' 'Congenital sucrase-isomaltase deficiency' SubClassOf 'Disorder of carbohydrate absorption and transport' 'Congenital sucrase-isomaltase deficiency' SubClassOf 'malabsorption syndrome' http://www.orpha.net/ORDO/Orphanet_35121 Acid phosphatase deficiency 'Acid phosphatase deficiency' SubClassOf 'Lysosomal disease' 'Acid phosphatase deficiency' SubClassOf 'Lysosomal disease' http://www.orpha.net/ORDO/Orphanet_35120 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency 'Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency' SubClassOf 'familial hemolytic anemia' 'Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency' SubClassOf 'Disorder of pyrimidine metabolism' 'Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency' SubClassOf 'Disorder of pyrimidine metabolism' http://www.orpha.net/ORDO/Orphanet_35125 Epidermal nevus syndrome 'Epidermal nevus syndrome' SubClassOf 'has modifier' some 'rare' 'Epidermal nevus syndrome' SubClassOf 'genetic skin disease' 'Epidermal nevus syndrome' SubClassOf 'Syndromic ichthyosis associated with ocular features' 'Epidermal nevus syndrome' SubClassOf 'melanocytic nevus' 'Epidermal nevus syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017263 http://www.orpha.net/ORDO/Orphanet_139578 Hereditary sensory and autonomic neuropathy with spastic paraplegia 'Hereditary sensory and autonomic neuropathy with spastic paraplegia' SubClassOf 'Autosomal recessive hereditary sensory and autonomic neuropathy' 'Hereditary sensory and autonomic neuropathy with spastic paraplegia' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Hereditary sensory and autonomic neuropathy with spastic paraplegia' SubClassOf 'Autosomal recessive hereditary sensory and autonomic neuropathy' 'Hereditary sensory and autonomic neuropathy with spastic paraplegia' SubClassOf 'Autosomal recessive complex spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_139573 Hereditary sensory and autonomic neuropathy with deafness and global delay 'Hereditary sensory and autonomic neuropathy with deafness and global delay' SubClassOf 'Autosomal recessive hereditary sensory and autonomic neuropathy' 'Hereditary sensory and autonomic neuropathy with deafness and global delay' SubClassOf 'Autosomal recessive hereditary sensory and autonomic neuropathy' http://www.orpha.net/ORDO/Orphanet_139589 Distal hereditary motor neuropathy type 7 'Distal hereditary motor neuropathy type 7' SubClassOf 'Autosomal dominant distal hereditary motor neuropathy' 'Distal hereditary motor neuropathy type 7' SubClassOf 'Autosomal dominant distal hereditary motor neuropathy' http://www.orpha.net/ORDO/Orphanet_139583 X-linked hereditary sensory and autonomic neuropathy with deafness 'X-linked hereditary sensory and autonomic neuropathy with deafness' SubClassOf 'auditory neuropathy' 'X-linked hereditary sensory and autonomic neuropathy with deafness' SubClassOf 'X-linked nonsyndromic hearing loss' 'X-linked hereditary sensory and autonomic neuropathy with deafness' SubClassOf 'Hereditary sensory and autonomic neuropathy' 'X-linked hereditary sensory and autonomic neuropathy with deafness' SubClassOf 'Hereditary sensory and autonomic neuropathy' http://www.ebi.ac.uk/efo/EFO_0008583 acute myocardial infarction 'acute myocardial infarction' SubClassOf 'myocardial infarction' 'acute myocardial infarction' SubClassOf 'myocardial infarction' http://www.orpha.net/ORDO/Orphanet_59135 Laing early-onset distal myopathy 'Laing early-onset distal myopathy' SubClassOf 'Congenital myopathy' 'Laing early-onset distal myopathy' SubClassOf 'Distal myopathy' 'Laing early-onset distal myopathy' SubClassOf 'congenital nervous system disorder' 'Laing early-onset distal myopathy' SubClassOf 'Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)' 'Laing early-onset distal myopathy' SubClassOf 'Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)' http://www.orpha.net/ORDO/Orphanet_139536 Distal hereditary motor neuropathy type 5 'Distal hereditary motor neuropathy type 5' SubClassOf 'Autosomal dominant distal hereditary motor neuropathy' 'Distal hereditary motor neuropathy type 5' SubClassOf 'neuronopathy, distal hereditary motor, type 5' 'Distal hereditary motor neuropathy type 5' SubClassOf 'Autosomal dominant distal hereditary motor neuropathy' http://www.orpha.net/ORDO/Orphanet_47159 Proximal renal tubular acidosis 'Proximal renal tubular acidosis' SubClassOf 'renal tubular acidosis' 'Proximal renal tubular acidosis' SubClassOf 'Primary renal tubular acidosis' 'Proximal renal tubular acidosis' SubClassOf 'Inborn errors of metabolism' 'Proximal renal tubular acidosis' SubClassOf 'Primary renal tubular acidosis' http://www.orpha.net/ORDO/Orphanet_139547 Distal spinal muscular atrophy type 3 'Distal spinal muscular atrophy type 3' SubClassOf 'spinal muscular atrophy' 'Distal spinal muscular atrophy type 3' SubClassOf 'Autosomal recessive distal hereditary motor neuropathy' 'Distal spinal muscular atrophy type 3' SubClassOf 'Autosomal recessive distal hereditary motor neuropathy' http://www.orpha.net/ORDO/Orphanet_98755 Spinocerebellar ataxia type 1 'Spinocerebellar ataxia type 1' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 1' SubClassOf 'Huntington disease-like syndrome' 'Spinocerebellar ataxia type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015548 'Spinocerebellar ataxia type 1' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' http://www.orpha.net/ORDO/Orphanet_98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 'Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15' SubClassOf 'Prader-Willi syndrome' 'Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15' SubClassOf 'Uniparental disomy of maternal origin' 'Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15' SubClassOf 'chromosome 15 disorder' 'Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15' SubClassOf 'uniparental disomy' 'Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98757 Spinocerebellar ataxia type 3 'Spinocerebellar ataxia type 3' SubClassOf 'Huntington disease-like syndrome' 'Spinocerebellar ataxia type 3' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015548 http://www.orpha.net/ORDO/Orphanet_98756 Spinocerebellar ataxia type 2 'Spinocerebellar ataxia type 2' SubClassOf 'familial amyotrophic lateral sclerosis' 'Spinocerebellar ataxia type 2' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 2' SubClassOf 'Huntington disease-like syndrome' 'Spinocerebellar ataxia type 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015548 'Spinocerebellar ataxia type 2' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' http://www.orpha.net/ORDO/Orphanet_98759 Spinocerebellar ataxia type 17 'Spinocerebellar ataxia type 17' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 17' SubClassOf 'Huntington disease-like syndrome' 'Spinocerebellar ataxia type 17' SubClassOf 'disease arises from feature' some 'neurodegenerative disease' 'Spinocerebellar ataxia type 17' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015548 'Spinocerebellar ataxia type 17' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' http://www.orpha.net/ORDO/Orphanet_98758 Spinocerebellar ataxia type 6 'Spinocerebellar ataxia type 6' SubClassOf 'Autosomal dominant cerebellar ataxia type 3' 'Spinocerebellar ataxia type 6' SubClassOf 'Autosomal dominant cerebellar ataxia type 3' http://www.orpha.net/ORDO/Orphanet_98760 Spinocerebellar ataxia type 8 'Spinocerebellar ataxia type 8' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 8' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' http://www.orpha.net/ORDO/Orphanet_98762 Spinocerebellar ataxia type 12 'Spinocerebellar ataxia type 12' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 12' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' http://www.orpha.net/ORDO/Orphanet_96100 Distal trisomy 8q 'Distal trisomy 8q' SubClassOf 'Partial duplication of the long arm of chromosome 8' 'Distal trisomy 8q' SubClassOf 'Partial duplication of the long arm of chromosome 8' http://www.orpha.net/ORDO/Orphanet_98761 Spinocerebellar ataxia type 10 'Spinocerebellar ataxia type 10' SubClassOf 'Autosomal dominant cerebellar ataxia type 4' 'Spinocerebellar ataxia type 10' SubClassOf 'Autosomal dominant cerebellar ataxia type 4' http://www.orpha.net/ORDO/Orphanet_96101 Distal trisomy 9q 'Distal trisomy 9q' SubClassOf 'Partial trisomy of the long arm of chromosome 9' 'Distal trisomy 9q' SubClassOf 'Partial trisomy of the long arm of chromosome 9' http://www.orpha.net/ORDO/Orphanet_98764 Spinocerebellar ataxia type 27 'Spinocerebellar ataxia type 27' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 27' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' http://www.orpha.net/ORDO/Orphanet_96102 Distal trisomy 10q 'Distal trisomy 10q' SubClassOf 'Partial duplication of the long arm of chromosome 10' 'Distal trisomy 10q' SubClassOf 'Partial duplication of the long arm of chromosome 10' http://www.orpha.net/ORDO/Orphanet_98763 Spinocerebellar ataxia type 14 'Spinocerebellar ataxia type 14' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 14' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' http://www.orpha.net/ORDO/Orphanet_96103 Distal trisomy 11q 'Distal trisomy 11q' SubClassOf 'chromosome 11q trisomy' 'Distal trisomy 11q' SubClassOf 'Partial duplication of the long arm of chromosome 11' 'Distal trisomy 11q' SubClassOf 'Partial duplication of the long arm of chromosome 11' http://www.orpha.net/ORDO/Orphanet_98766 Spinocerebellar ataxia type 5 'Spinocerebellar ataxia type 5' SubClassOf 'Autosomal dominant cerebellar ataxia type 3' 'Spinocerebellar ataxia type 5' SubClassOf 'Autosomal dominant cerebellar ataxia type 3' http://www.orpha.net/ORDO/Orphanet_98765 Spinocerebellar ataxia type 4 'Spinocerebellar ataxia type 4' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 4' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' http://www.orpha.net/ORDO/Orphanet_139557 X-linked distal spinal muscular atrophy 'X-linked distal spinal muscular atrophy' SubClassOf 'X-linked distal hereditary motor neuropathy' 'X-linked distal spinal muscular atrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_139552 Distal hereditary motor neuropathy, Jerash type 'Distal hereditary motor neuropathy, Jerash type' SubClassOf 'Autosomal recessive distal hereditary motor neuropathy' 'Distal hereditary motor neuropathy, Jerash type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_35173 X-linked dominant chondrodysplasia punctata 'X-linked dominant chondrodysplasia punctata' SubClassOf 'Rare syndromic dyslipidemia' 'X-linked dominant chondrodysplasia punctata' SubClassOf 'Sterol biosynthesis disorder' 'X-linked dominant chondrodysplasia punctata' SubClassOf 'X-linked ichthyosis syndrome' 'X-linked dominant chondrodysplasia punctata' SubClassOf 'Non-rhizomelic chondrodysplasia punctata' 'X-linked dominant chondrodysplasia punctata' SubClassOf 'Syndromic ichthyosis associated with ocular features' 'X-linked dominant chondrodysplasia punctata' SubClassOf 'Sterol biosynthesis disorder' 'X-linked dominant chondrodysplasia punctata' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017269 'X-linked dominant chondrodysplasia punctata' SubClassOf 'Non-rhizomelic chondrodysplasia punctata' http://www.orpha.net/ORDO/Orphanet_96105 Distal trisomy 13q 'Distal trisomy 13q' SubClassOf 'Partial duplication of the long arm of chromosome 13' 'Distal trisomy 13q' SubClassOf 'chromosome 13q trisomy' 'Distal trisomy 13q' SubClassOf 'Partial duplication of the long arm of chromosome 13' http://www.orpha.net/ORDO/Orphanet_98768 Spinocerebellar ataxia type 13 'Spinocerebellar ataxia type 13' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 13' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' http://www.orpha.net/ORDO/Orphanet_96106 Distal trisomy 16q 'Distal trisomy 16q' SubClassOf 'Partial trisomy of the long arm of chromosome 16' 'Distal trisomy 16q' SubClassOf 'Partial trisomy of the long arm of chromosome 16' http://www.orpha.net/ORDO/Orphanet_98767 Spinocerebellar ataxia type 11 'Spinocerebellar ataxia type 11' SubClassOf 'Autosomal dominant cerebellar ataxia type 3' 'Spinocerebellar ataxia type 11' SubClassOf 'Autosomal dominant cerebellar ataxia type 3' http://www.orpha.net/ORDO/Orphanet_96107 Distal trisomy 20q 'Distal trisomy 20q' SubClassOf 'Partial trisomy of the long arm of chromosome 20' 'Distal trisomy 20q' SubClassOf 'Partial trisomy of the long arm of chromosome 20' http://www.orpha.net/ORDO/Orphanet_98769 Spinocerebellar ataxia type 15/16 'Spinocerebellar ataxia type 15/16' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 15/16' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' http://www.orpha.net/ORDO/Orphanet_96109 Distal trisomy 22q 'Distal trisomy 22q' SubClassOf 'Partial duplication of the long arm of chromosome 22' 'Distal trisomy 22q' SubClassOf 'Partial duplication of the long arm of chromosome 22' http://www.orpha.net/ORDO/Orphanet_98771 Spinocerebellar ataxia type 18 'Spinocerebellar ataxia type 18' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 18' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' http://www.orpha.net/ORDO/Orphanet_98773 Spinocerebellar ataxia type 21 'Spinocerebellar ataxia type 21' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 21' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' http://www.orpha.net/ORDO/Orphanet_98772 Spinocerebellar ataxia type 19/22 'Spinocerebellar ataxia type 19/22' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 19/22' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' http://www.orpha.net/ORDO/Orphanet_96112 Non-distal trisomy 9q 'Non-distal trisomy 9q' SubClassOf 'Partial trisomy of the long arm of chromosome 9' 'Non-distal trisomy 9q' SubClassOf 'Partial trisomy of the long arm of chromosome 9' http://www.orpha.net/ORDO/Orphanet_139564 Hereditary sensory and autonomic neuropathy type 1B 'Hereditary sensory and autonomic neuropathy type 1B' SubClassOf 'Hereditary sensory and autonomic neuropathy type 1' 'Hereditary sensory and autonomic neuropathy type 1B' SubClassOf 'Autosomal dominant hereditary sensory and autonomic neuropathy' http://www.orpha.net/ORDO/Orphanet_84132 Desmin-related myopathy with Mallory body-like inclusions 'Desmin-related myopathy with Mallory body-like inclusions' SubClassOf 'Inclusion myopathy' 'Desmin-related myopathy with Mallory body-like inclusions' SubClassOf 'rigid spine muscular dystrophy 1' 'Desmin-related myopathy with Mallory body-like inclusions' SubClassOf 'Inclusion myopathy' 'Desmin-related myopathy with Mallory body-like inclusions' SubClassOf 'Qualitative or quantitative defects of desmin' 'Desmin-related myopathy with Mallory body-like inclusions' SubClassOf 'Qualitative or quantitative defects of selenoprotein N1' http://www.orpha.net/ORDO/Orphanet_86788 X-linked severe congenital neutropenia 'X-linked severe congenital neutropenia' SubClassOf 'X-linked disease' 'X-linked severe congenital neutropenia' SubClassOf 'Severe congenital neutropenia' 'X-linked severe congenital neutropenia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_86789 Patella aplasia/hypoplasia 'Patella aplasia/hypoplasia' SubClassOf 'Non-syndromic limb malformation' 'Patella aplasia/hypoplasia' SubClassOf 'Patellar dysostosis' 'Patella aplasia/hypoplasia' SubClassOf 'Non-syndromic limb malformation' 'Patella aplasia/hypoplasia' SubClassOf 'Patellar dysostosis' http://www.orpha.net/ORDO/Orphanet_98706 Oculocutaneous or ocular albinism 'Oculocutaneous or ocular albinism' SubClassOf 'has modifier' some 'rare' 'Oculocutaneous or ocular albinism' SubClassOf 'albinism' http://www.orpha.net/ORDO/Orphanet_139507 African iron overload 'African iron overload' SubClassOf 'Rare metabolic liver disease' 'African iron overload' SubClassOf 'hereditary hemochromatosis' 'African iron overload' SubClassOf 'has modifier' some 'rare' 'African iron overload' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_59181 Sorsby's fundus dystrophy 'Sorsby's fundus dystrophy' SubClassOf 'Retinal dystrophy' http://www.orpha.net/ORDO/Orphanet_139518 Distal hereditary motor neuropathy type 1 'Distal hereditary motor neuropathy type 1' SubClassOf 'Charcot-Marie-Tooth disease' 'Distal hereditary motor neuropathy type 1' SubClassOf 'neuronopathy, distal hereditary motor' 'Distal hereditary motor neuropathy type 1' SubClassOf 'Autosomal dominant distal hereditary motor neuropathy' 'Distal hereditary motor neuropathy type 1' SubClassOf 'Autosomal dominant distal hereditary motor neuropathy' http://www.orpha.net/ORDO/Orphanet_139515 Charcot-Marie-Tooth disease type 4J 'Charcot-Marie-Tooth disease type 4J' SubClassOf 'Charcot-Marie-Tooth disease type 4' 'Charcot-Marie-Tooth disease type 4J' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_139512 Neuropathy with hearing impairment 'Neuropathy with hearing impairment' SubClassOf 'Autosomal dominant hereditary demyelinating motor and sensory neuropathy' 'Neuropathy with hearing impairment' SubClassOf 'Syndromic genetic deafness' 'Neuropathy with hearing impairment' SubClassOf 'Autosomal dominant hereditary demyelinating motor and sensory neuropathy' 'Neuropathy with hearing impairment' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_98724 congenital anomaly of the great arteries 'congenital anomaly of the great arteries' SubClassOf 'congenital heart malformation' 'congenital anomaly of the great arteries' SubClassOf 'has modifier' some 'congenital' 'congenital anomaly of the great arteries' SubClassOf 'Genetic vascular anomaly' 'congenital anomaly of the great arteries' SubClassOf 'vascular anomaly' 'congenital anomaly of the great arteries' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_139525 Distal hereditary motor neuropathy type 2 'Distal hereditary motor neuropathy type 2' SubClassOf 'Autosomal dominant distal hereditary motor neuropathy' 'Distal hereditary motor neuropathy type 2' SubClassOf 'Autosomal dominant distal hereditary motor neuropathy' http://www.orpha.net/ORDO/Orphanet_98733 Noonan syndrome and Noonan-related syndrome 'Noonan syndrome and Noonan-related syndrome' SubClassOf 'rasopathy' 'Noonan syndrome and Noonan-related syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'Noonan syndrome and Noonan-related syndrome' SubClassOf 'familial hypertrophic cardiomyopathy' 'Noonan syndrome and Noonan-related syndrome' SubClassOf 'Syndrome associated with hypertrophic cardiomyopathy' 'Noonan syndrome and Noonan-related syndrome' SubClassOf 'disorder of development or morphogenesis' 'Noonan syndrome and Noonan-related syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96164 Non-distal monosomy 20q 'Non-distal monosomy 20q' SubClassOf 'Partial deletion of the long arm of chromosome 20' 'Non-distal monosomy 20q' SubClassOf 'Partial deletion of the long arm of chromosome 20' http://www.orpha.net/ORDO/Orphanet_96167 Recombinant 8 syndrome 'Recombinant 8 syndrome' SubClassOf 'Complex chromosomal rearrangement' 'Recombinant 8 syndrome' SubClassOf 'Complex chromosomal rearrangement' http://www.orpha.net/ORDO/Orphanet_96168 Monosomy 13q34 'Monosomy 13q34' SubClassOf 'Partial deletion of the long arm of chromosome 13' 'Monosomy 13q34' SubClassOf 'Syndromic anorectal malformation' 'Monosomy 13q34' SubClassOf 'Partial deletion of the long arm of chromosome 13' 'Monosomy 13q34' SubClassOf 'Syndromic anorectal malformation' http://www.orpha.net/ORDO/Orphanet_96169 Koolen-De Vries syndrome 'Koolen-De Vries syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Koolen-De Vries syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_96160 Non-distal monosomy 12q 'Non-distal monosomy 12q' SubClassOf 'Partial deletion of the long arm of chromosome 12' 'Non-distal monosomy 12q' SubClassOf 'Partial deletion of the long arm of chromosome 12' http://www.orpha.net/ORDO/Orphanet_2001 Cleft lip/palate - intestinal malrotation - cardiopathy 'Cleft lip/palate - intestinal malrotation - cardiopathy' SubClassOf 'Orofacial clefting syndrome' 'Cleft lip/palate - intestinal malrotation - cardiopathy' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Cleft lip/palate - intestinal malrotation - cardiopathy' SubClassOf 'Orofacial clefting syndrome' 'Cleft lip/palate - intestinal malrotation - cardiopathy' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_2008 Acro-cardio-facial syndrome 'Acro-cardio-facial syndrome' SubClassOf 'syndromic intellectual disability' 'Acro-cardio-facial syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Acro-cardio-facial syndrome' SubClassOf 'congenital nervous system disorder' 'Acro-cardio-facial syndrome' SubClassOf 'Orofacial clefting syndrome' 'Acro-cardio-facial syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Acro-cardio-facial syndrome' SubClassOf 'Orofacial clefting syndrome' http://www.orpha.net/ORDO/Orphanet_2007 Alar cartilages hypoplasia - coloboma - telecanthus 'Alar cartilages hypoplasia - coloboma - telecanthus' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Alar cartilages hypoplasia - coloboma - telecanthus' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_2005 Laryngo-tracheo-esophageal cleft - pulmonary hypoplasia 'Laryngo-tracheo-esophageal cleft - pulmonary hypoplasia' SubClassOf 'Tracheal anomaly' 'Laryngo-tracheo-esophageal cleft - pulmonary hypoplasia' SubClassOf 'Non-syndromic respiratory or mediastinal malformation' 'Laryngo-tracheo-esophageal cleft - pulmonary hypoplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2003 Cleft lip/palate - deafness - sacral lipoma 'Cleft lip/palate - deafness - sacral lipoma' SubClassOf 'Syndromic genetic deafness' 'Cleft lip/palate - deafness - sacral lipoma' SubClassOf 'Orofacial clefting syndrome' 'Cleft lip/palate - deafness - sacral lipoma' SubClassOf 'Syndromic genetic deafness' 'Cleft lip/palate - deafness - sacral lipoma' SubClassOf 'Orofacial clefting syndrome' http://www.orpha.net/ORDO/Orphanet_96175 Ring chromosome 11 'Ring chromosome 11' SubClassOf 'ring chromosome disorder' 'Ring chromosome 11' SubClassOf 'Ring chromosome' 'Ring chromosome 11' SubClassOf 'chromosome 11 disorder' 'Ring chromosome 11' SubClassOf 'Ring chromosome' http://www.orpha.net/ORDO/Orphanet_96176 Ring chromosome 13 'Ring chromosome 13' SubClassOf 'Syndromic anorectal malformation' 'Ring chromosome 13' SubClassOf 'Ring chromosome' 'Ring chromosome 13' SubClassOf 'ring chromosome disorder' 'Ring chromosome 13' SubClassOf 'chromosome 13 disorder' 'Ring chromosome 13' SubClassOf 'Syndromic anorectal malformation' 'Ring chromosome 13' SubClassOf 'Ring chromosome' http://www.orpha.net/ORDO/Orphanet_96177 Ring chromosome 15 'Ring chromosome 15' SubClassOf 'ring chromosome disorder' 'Ring chromosome 15' SubClassOf 'Ring chromosome' 'Ring chromosome 15' SubClassOf 'chromosome 15 disorder' 'Ring chromosome 15' SubClassOf 'Ring chromosome' http://www.orpha.net/ORDO/Orphanet_96178 Ring chromosome 16 'Ring chromosome 16' SubClassOf 'ring chromosome disorder' 'Ring chromosome 16' SubClassOf 'Ring chromosome' 'Ring chromosome 16' SubClassOf 'chromosome 16 disorder' 'Ring chromosome 16' SubClassOf 'Ring chromosome' http://www.orpha.net/ORDO/Orphanet_96179 Maternal uniparental disomy of chromosome 2 'Maternal uniparental disomy of chromosome 2' SubClassOf 'chromosome 2 disorder' 'Maternal uniparental disomy of chromosome 2' SubClassOf 'Uniparental disomy of maternal origin' 'Maternal uniparental disomy of chromosome 2' SubClassOf 'uniparental disomy' 'Maternal uniparental disomy of chromosome 2' SubClassOf 'Uniparental disomy of maternal origin' http://www.orpha.net/ORDO/Orphanet_96170 Emanuel syndrome 'Emanuel syndrome' SubClassOf 'syndromic diaphragmatic or thoracic malformation' 'Emanuel syndrome' SubClassOf 'syndromic diaphragmatic or abdominal wall malformation' 'Emanuel syndrome' SubClassOf 'Complex chromosomal rearrangement' 'Emanuel syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96171 Ring chromosome 2 'Ring chromosome 2' SubClassOf 'Ring chromosome' 'Ring chromosome 2' SubClassOf 'ring chromosome disorder' 'Ring chromosome 2' SubClassOf 'chromosome 2 disorder' 'Ring chromosome 2' SubClassOf 'Ring chromosome' http://www.orpha.net/ORDO/Orphanet_96172 Ring chromosome 3 'Ring chromosome 3' SubClassOf 'chromosome 3 disorder' 'Ring chromosome 3' SubClassOf 'ring chromosome disorder' 'Ring chromosome 3' SubClassOf 'Ring chromosome' 'Ring chromosome 3' SubClassOf 'Ring chromosome' http://www.orpha.net/ORDO/Orphanet_96173 Ring chromosome 9 'Ring chromosome 9' SubClassOf 'chromosome 9 disorder' 'Ring chromosome 9' SubClassOf 'Ring chromosome' 'Ring chromosome 9' SubClassOf 'ring chromosome disorder' 'Ring chromosome 9' SubClassOf 'Ring chromosome' http://www.orpha.net/ORDO/Orphanet_2013 Cleft palate - large ears - small head 'Cleft palate - large ears - small head' SubClassOf 'Orofacial clefting syndrome' 'Cleft palate - large ears - small head' SubClassOf 'Orofacial clefting syndrome' http://www.orpha.net/ORDO/Orphanet_2010 Cleft palate - stapes fixation - oligodontia 'Cleft palate - stapes fixation - oligodontia' SubClassOf 'has modifier' some 'rare' 'Cleft palate - stapes fixation - oligodontia' SubClassOf 'disorder of development or morphogenesis' http://www.orpha.net/ORDO/Orphanet_2019 Femur-fibula-ulna complex 'Femur-fibula-ulna complex' SubClassOf 'congenital limb malformation' 'Femur-fibula-ulna complex' SubClassOf 'Dysostosis of genetic origin' http://www.orpha.net/ORDO/Orphanet_2016 Cleft palate-lateral synechia syndrome 'Cleft palate-lateral synechia syndrome' SubClassOf 'Orofacial clefting syndrome' 'Cleft palate-lateral synechia syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Cleft palate-lateral synechia syndrome' SubClassOf 'Orofacial clefting syndrome' 'Cleft palate-lateral synechia syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_2015 Cleft palate - short stature - vertebral anomalies 'Cleft palate - short stature - vertebral anomalies' SubClassOf 'syndromic intellectual disability' 'Cleft palate - short stature - vertebral anomalies' SubClassOf 'Orofacial clefting syndrome' 'Cleft palate - short stature - vertebral anomalies' SubClassOf 'congenital nervous system disorder' 'Cleft palate - short stature - vertebral anomalies' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Cleft palate - short stature - vertebral anomalies' SubClassOf 'Orofacial clefting syndrome' 'Cleft palate - short stature - vertebral anomalies' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_96185 Maternal uniparental disomy of chromosome 16 'Maternal uniparental disomy of chromosome 16' SubClassOf 'Syndromic anorectal malformation' 'Maternal uniparental disomy of chromosome 16' SubClassOf 'Uniparental disomy of maternal origin' 'Maternal uniparental disomy of chromosome 16' SubClassOf 'uniparental disomy' 'Maternal uniparental disomy of chromosome 16' SubClassOf 'chromosome 16 disorder' 'Maternal uniparental disomy of chromosome 16' SubClassOf 'Syndromic anorectal malformation' 'Maternal uniparental disomy of chromosome 16' SubClassOf 'Uniparental disomy of maternal origin' http://www.orpha.net/ORDO/Orphanet_96186 Maternal uniparental disomy of chromosome 20 'Maternal uniparental disomy of chromosome 20' SubClassOf 'Uniparental disomy of maternal origin' 'Maternal uniparental disomy of chromosome 20' SubClassOf 'chromosome 20 disorder' 'Maternal uniparental disomy of chromosome 20' SubClassOf 'uniparental disomy' 'Maternal uniparental disomy of chromosome 20' SubClassOf 'Uniparental disomy of maternal origin' http://www.orpha.net/ORDO/Orphanet_96187 Maternal uniparental disomy of chromosome 21 'Maternal uniparental disomy of chromosome 21' SubClassOf 'chromosome 21 disorder' 'Maternal uniparental disomy of chromosome 21' SubClassOf 'uniparental disomy' 'Maternal uniparental disomy of chromosome 21' SubClassOf 'Uniparental disomy of maternal origin' 'Maternal uniparental disomy of chromosome 21' SubClassOf 'Uniparental disomy of maternal origin' http://www.orpha.net/ORDO/Orphanet_96188 Maternal uniparental disomy of chromosome 22 'Maternal uniparental disomy of chromosome 22' SubClassOf 'uniparental disomy' 'Maternal uniparental disomy of chromosome 22' SubClassOf 'chromosome 22 disorder' 'Maternal uniparental disomy of chromosome 22' SubClassOf 'Uniparental disomy of maternal origin' 'Maternal uniparental disomy of chromosome 22' SubClassOf 'Uniparental disomy of maternal origin' http://purl.obolibrary.org/obo/MONDO_0001713 inherited aplastic anemia 'inherited aplastic anemia' SubClassOf 'anemia' 'inherited aplastic anemia' SubClassOf 'telomere syndrome' 'inherited aplastic anemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015909 'inherited aplastic anemia' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0015909 and ('has modifier' some 'inherited') http://www.orpha.net/ORDO/Orphanet_96180 Maternal uniparental disomy of chromosome 4 'Maternal uniparental disomy of chromosome 4' SubClassOf 'uniparental disomy' 'Maternal uniparental disomy of chromosome 4' SubClassOf 'chromosome 4 disorder' 'Maternal uniparental disomy of chromosome 4' SubClassOf 'Uniparental disomy of maternal origin' 'Maternal uniparental disomy of chromosome 4' SubClassOf 'Uniparental disomy of maternal origin' http://www.orpha.net/ORDO/Orphanet_96181 Maternal uniparental disomy of chromosome 6 'Maternal uniparental disomy of chromosome 6' SubClassOf 'uniparental disomy' 'Maternal uniparental disomy of chromosome 6' SubClassOf 'Uniparental disomy of maternal origin' 'Maternal uniparental disomy of chromosome 6' SubClassOf 'chromosome 6 disorder' 'Maternal uniparental disomy of chromosome 6' SubClassOf 'Uniparental disomy of maternal origin' http://www.orpha.net/ORDO/Orphanet_96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7' SubClassOf 'chromosome 7 disorder' 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7' SubClassOf 'Uniparental disomy of maternal origin' 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7' SubClassOf 'uniparental disomy' 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7' SubClassOf 'Silver-Russell syndrome' 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7' SubClassOf http://purl.obolibrary.org/obo/MONDO_0008394 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7' SubClassOf 'Uniparental disomy of maternal origin' http://www.orpha.net/ORDO/Orphanet_96183 Maternal uniparental disomy of chromosome 9 'Maternal uniparental disomy of chromosome 9' SubClassOf 'Uniparental disomy of maternal origin' 'Maternal uniparental disomy of chromosome 9' SubClassOf 'uniparental disomy' 'Maternal uniparental disomy of chromosome 9' SubClassOf 'chromosome 9 disorder' 'Maternal uniparental disomy of chromosome 9' SubClassOf 'Uniparental disomy of maternal origin' http://www.orpha.net/ORDO/Orphanet_96184 Maternal uniparental disomy of chromosome 14 'Maternal uniparental disomy of chromosome 14' SubClassOf 'Uniparental disomy of maternal origin' 'Maternal uniparental disomy of chromosome 14' SubClassOf 'Motor developmental delay due to 14q32.2 paternally expressed gene defect' 'Maternal uniparental disomy of chromosome 14' SubClassOf 'uniparental disomy' 'Maternal uniparental disomy of chromosome 14' SubClassOf 'chromosome 14 disorder' 'Maternal uniparental disomy of chromosome 14' SubClassOf 'Uniparental disomy of maternal origin' 'Maternal uniparental disomy of chromosome 14' SubClassOf 'Motor developmental delay due to 14q32.2 paternally expressed gene defect' http://www.orpha.net/ORDO/Orphanet_2024 Hereditary gingival fibromatosis 'Hereditary gingival fibromatosis' SubClassOf 'disorder of development or morphogenesis' 'Hereditary gingival fibromatosis' SubClassOf 'gingival overgrowth' 'Hereditary gingival fibromatosis' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_2022 Endomyocardial fibroelastosis 'Endomyocardial fibroelastosis' SubClassOf 'Familial dilated cardiomyopathy' 'Endomyocardial fibroelastosis' SubClassOf 'Familial restrictive cardiomyopathy' 'Endomyocardial fibroelastosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2021 Fibrochondrogenesis 'Fibrochondrogenesis' SubClassOf 'osteochondrodysplasia' 'Fibrochondrogenesis' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' 'Fibrochondrogenesis' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' http://www.orpha.net/ORDO/Orphanet_2020 Congenital fiber-type disproportion myopathy 'Congenital fiber-type disproportion myopathy' SubClassOf 'congenital structural myopathy' 'Congenital fiber-type disproportion myopathy' SubClassOf 'Congenital myopathy' 'Congenital fiber-type disproportion myopathy' SubClassOf 'Congenital myopathy' http://www.orpha.net/ORDO/Orphanet_2029 Multiple non-ossifying fibromatosis 'Multiple non-ossifying fibromatosis' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_2028 Juvenile hyaline fibromatosis 'Juvenile hyaline fibromatosis' SubClassOf 'Soft Tissue Neoplasm' 'Juvenile hyaline fibromatosis' SubClassOf 'Genetic dermis disorder' 'Juvenile hyaline fibromatosis' SubClassOf 'hereditary disorder of connective tissue' 'Juvenile hyaline fibromatosis' SubClassOf 'Genetic skin tumor' 'Juvenile hyaline fibromatosis' SubClassOf 'Genetic soft tissue tumor' 'Juvenile hyaline fibromatosis' SubClassOf 'dermis tumor' 'Juvenile hyaline fibromatosis' SubClassOf 'bone neoplasm' 'Juvenile hyaline fibromatosis' SubClassOf 'hyaline fibromatosis syndrome' 'Juvenile hyaline fibromatosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019276 'Juvenile hyaline fibromatosis' SubClassOf 'Primary osteolysis' http://www.orpha.net/ORDO/Orphanet_2027 Gingival fibromatosis - progressive deafness 'Gingival fibromatosis - progressive deafness' SubClassOf 'Syndromic genetic deafness' 'Gingival fibromatosis - progressive deafness' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_2026 Gingival fibromatosis-hypertrichosis syndrome 'Gingival fibromatosis-hypertrichosis syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Gingival fibromatosis-hypertrichosis syndrome' SubClassOf 'Hypertrichosis' 'Gingival fibromatosis-hypertrichosis syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Gingival fibromatosis-hypertrichosis syndrome' SubClassOf 'Hypertrichosis' http://www.orpha.net/ORDO/Orphanet_2025 Gingival fibromatosis - facial dysmorphism 'Gingival fibromatosis - facial dysmorphism' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Gingival fibromatosis - facial dysmorphism' SubClassOf 'syndromic disease' 'Gingival fibromatosis - facial dysmorphism' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0001724 supraglottis cancer 'supraglottis cancer' SubClassOf 'Malignant Laryngeal Neoplasm' 'supraglottis cancer' SubClassOf 'supraglottis neoplasm' 'supraglottis cancer' SubClassOf 'Malignant Laryngeal Neoplasm' 'supraglottis cancer' SubClassOf 'supraglottis neoplasm' http://www.orpha.net/ORDO/Orphanet_96190 Paternal uniparental disomy of chromosome 5 'Paternal uniparental disomy of chromosome 5' SubClassOf 'Uniparental disomy of paternal origin' 'Paternal uniparental disomy of chromosome 5' SubClassOf 'uniparental disomy' 'Paternal uniparental disomy of chromosome 5' SubClassOf 'chromosome 5 disorder' 'Paternal uniparental disomy of chromosome 5' SubClassOf 'Uniparental disomy of paternal origin' http://www.orpha.net/ORDO/Orphanet_96191 Paternal uniparental disomy of chromosome 6 'Paternal uniparental disomy of chromosome 6' SubClassOf 'chromosome 6 disorder' 'Paternal uniparental disomy of chromosome 6' SubClassOf 'uniparental disomy' 'Paternal uniparental disomy of chromosome 6' SubClassOf 'Uniparental disomy of paternal origin' 'Paternal uniparental disomy of chromosome 6' SubClassOf 'Uniparental disomy of paternal origin' http://www.orpha.net/ORDO/Orphanet_284385 Familial intrahepatic cholestasis 'Familial intrahepatic cholestasis' SubClassOf 'Genetic biliary tract disease' 'Familial intrahepatic cholestasis' EquivalentTo 'intrahepatic cholestasis' and ('has modifier' some 'inherited') 'Familial intrahepatic cholestasis' SubClassOf 'Inborn errors of metabolism' 'Familial intrahepatic cholestasis' SubClassOf 'intrahepatic cholestasis' 'Familial intrahepatic cholestasis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015509 http://www.orpha.net/ORDO/Orphanet_96192 Paternal uniparental disomy of chromosome 7 'Paternal uniparental disomy of chromosome 7' SubClassOf 'chromosome 7 disorder' 'Paternal uniparental disomy of chromosome 7' SubClassOf 'Uniparental disomy of paternal origin' 'Paternal uniparental disomy of chromosome 7' SubClassOf 'uniparental disomy' 'Paternal uniparental disomy of chromosome 7' SubClassOf 'Uniparental disomy of paternal origin' http://www.orpha.net/ORDO/Orphanet_96193 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 'Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11' SubClassOf 'Uniparental disomy of paternal origin' 'Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11' SubClassOf 'Beckwith-Wiedemann syndrome' 'Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11' SubClassOf 'chromosome 11 disorder' 'Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11' SubClassOf 'uniparental disomy' 'Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96194 Paternal uniparental disomy of chromosome 20 'Paternal uniparental disomy of chromosome 20' SubClassOf 'Uniparental disomy of paternal origin' 'Paternal uniparental disomy of chromosome 20' SubClassOf 'chromosome 20 disorder' 'Paternal uniparental disomy of chromosome 20' SubClassOf 'uniparental disomy' 'Paternal uniparental disomy of chromosome 20' SubClassOf 'Uniparental disomy of paternal origin' http://www.orpha.net/ORDO/Orphanet_96195 Paternal uniparental disomy of chromosome 21 'Paternal uniparental disomy of chromosome 21' SubClassOf 'uniparental disomy' 'Paternal uniparental disomy of chromosome 21' SubClassOf 'Uniparental disomy of paternal origin' 'Paternal uniparental disomy of chromosome 21' SubClassOf 'chromosome 21 disorder' 'Paternal uniparental disomy of chromosome 21' SubClassOf 'Uniparental disomy of paternal origin' http://purl.obolibrary.org/obo/MONDO_0013713 dengue virus, susceptibility to 'dengue virus, susceptibility to' SubClassOf 'Genetic susceptibility to infections due to particular pathogens' 'dengue virus, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015979 http://www.orpha.net/ORDO/Orphanet_96121 7q11.23 microduplication syndrome '7q11.23 microduplication syndrome' SubClassOf 'Partial duplication of the long arm of chromosome 7' '7q11.23 microduplication syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98784 Autosomal dominant nocturnal frontal lobe epilepsy 'Autosomal dominant nocturnal frontal lobe epilepsy' SubClassOf 'frontal lobe epilepsy' 'Autosomal dominant nocturnal frontal lobe epilepsy' SubClassOf 'Familial partial epilepsy' 'Autosomal dominant nocturnal frontal lobe epilepsy' SubClassOf 'Familial partial epilepsy' http://www.orpha.net/ORDO/Orphanet_96123 Monosomy 22 'Monosomy 22' SubClassOf 'Total autosomal monosomy' 'Monosomy 22' SubClassOf 'chromosome 22 disorder' 'Monosomy 22' SubClassOf 'monosomy' 'Monosomy 22' SubClassOf 'Total autosomal monosomy' http://www.orpha.net/ORDO/Orphanet_96125 Distal monosomy 6p 'Distal monosomy 6p' SubClassOf 'Iridogoniodysgenesis' 'Distal monosomy 6p' SubClassOf 'Partial deletion of the short arm of chromosome 6' 'Distal monosomy 6p' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Distal monosomy 6p' SubClassOf 'Rare disease with glaucoma as a major feature' 'Distal monosomy 6p' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96126 Distal monosomy 7p 'Distal monosomy 7p' SubClassOf 'Partial deletion of the short arm of chromosome 7' 'Distal monosomy 7p' SubClassOf 'Partial deletion of the short arm of chromosome 7' http://www.orpha.net/ORDO/Orphanet_101009 Autosomal dominant spastic paraplegia type 29 'Autosomal dominant spastic paraplegia type 29' SubClassOf 'Autosomal dominant complex spastic paraplegia' 'Autosomal dominant spastic paraplegia type 29' SubClassOf 'Autosomal dominant complex spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_101007 Autosomal recessive spastic paraplegia type 27 'Autosomal recessive spastic paraplegia type 27' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 27' SubClassOf 'Autosomal recessive complex spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_101008 Autosomal recessive spastic paraplegia type 28 'Autosomal recessive spastic paraplegia type 28' SubClassOf 'Autosomal recessive pure spastic paraplegia' 'Autosomal recessive spastic paraplegia type 28' SubClassOf 'Autosomal recessive pure spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_101005 Autosomal recessive spastic paraplegia type 25 'Autosomal recessive spastic paraplegia type 25' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 25' SubClassOf 'Autosomal recessive complex spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_101006 Autosomal recessive spastic paraplegia type 26 'Autosomal recessive spastic paraplegia type 26' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 26' SubClassOf 'Autosomal recessive complex spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_101003 Autosomal recessive spastic paraplegia type 23 'Autosomal recessive spastic paraplegia type 23' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 23' SubClassOf 'Autosomal recessive complex spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_101004 Autosomal recessive spastic paraplegia type 24 'Autosomal recessive spastic paraplegia type 24' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 24' SubClassOf 'Autosomal recessive complex spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_101001 Autosomal recessive spastic paraplegia type 21 'Autosomal recessive spastic paraplegia type 21' SubClassOf 'Pure or complex autosomal recessive spastic paraplegia' 'Autosomal recessive spastic paraplegia type 21' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96129 Distal monosomy 19p13.3 'Distal monosomy 19p13.3' SubClassOf 'Partial deletion of the short arm of chromosome 19' 'Distal monosomy 19p13.3' SubClassOf 'Partial deletion of the short arm of chromosome 19' http://www.orpha.net/ORDO/Orphanet_101000 Autosomal recessive spastic paraplegia type 20 'Autosomal recessive spastic paraplegia type 20' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 20' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_357506 Genetic non-syndromic renal or urinary tract malformation 'Genetic non-syndromic renal or urinary tract malformation' SubClassOf 'Genetic urogenital tract malformation' 'Genetic non-syndromic renal or urinary tract malformation' SubClassOf 'kidney disease' http://www.orpha.net/ORDO/Orphanet_98793 Prader-Willi syndrome due to paternal 15q11q13 deletion 'Prader-Willi syndrome due to paternal 15q11q13 deletion' SubClassOf 'Partial deletion of the long arm of chromosome 15' 'Prader-Willi syndrome due to paternal 15q11q13 deletion' SubClassOf 'Prader-Willi syndrome' 'Prader-Willi syndrome due to paternal 15q11q13 deletion' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 'Angelman syndrome due to paternal uniparental disomy of chromosome 15' SubClassOf 'chromosome 15 disorder' 'Angelman syndrome due to paternal uniparental disomy of chromosome 15' SubClassOf 'Uniparental disomy of paternal origin' 'Angelman syndrome due to paternal uniparental disomy of chromosome 15' SubClassOf 'uniparental disomy' 'Angelman syndrome due to paternal uniparental disomy of chromosome 15' SubClassOf 'Angelman syndrome' 'Angelman syndrome due to paternal uniparental disomy of chromosome 15' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98794 Angelman syndrome due to maternal 15q11q13 deletion 'Angelman syndrome due to maternal 15q11q13 deletion' SubClassOf 'Angelman syndrome' 'Angelman syndrome due to maternal 15q11q13 deletion' SubClassOf 'Partial deletion of the long arm of chromosome 15' 'Angelman syndrome due to maternal 15q11q13 deletion' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98797 Isochromosomy Yp 'Isochromosomy Yp' SubClassOf 'Isochromosome Y' 'Isochromosomy Yp' SubClassOf 'Isochromosome Y' http://www.orpha.net/ORDO/Orphanet_98798 Isochromosomy Yq 'Isochromosomy Yq' SubClassOf 'Isochromosome Y' 'Isochromosomy Yq' SubClassOf 'Isochromosome Y' http://www.orpha.net/ORDO/Orphanet_284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia 'Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia' SubClassOf 'Autosomal recessive cerebellar ataxia' 'Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia' SubClassOf 'Autosomal recessive cerebellar ataxia' http://www.orpha.net/ORDO/Orphanet_98791 Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16 'Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16' SubClassOf 'syndromic intellectual disability' 'Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16' SubClassOf 'Alpha-thalassemia-related diseases' 'Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16' SubClassOf 'Partial deletion of the short arm of chromosome 16' 'Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16' SubClassOf 'Alpha-thalassemia-related diseases' 'Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16' SubClassOf 'Partial deletion of the short arm of chromosome 16' http://purl.obolibrary.org/obo/MONDO_0001750 non-renal secondary hyperparathyroidism 'non-renal secondary hyperparathyroidism' SubClassOf 'secondary hyperparathyroidism' 'non-renal secondary hyperparathyroidism' SubClassOf 'secondary hyperparathyroidism' http://www.orpha.net/ORDO/Orphanet_96145 Distal monosomy 4q 'Distal monosomy 4q' SubClassOf 'Partial deletion of the long arm of chromosome 4' 'Distal monosomy 4q' SubClassOf 'Partial deletion of the long arm of chromosome 4' http://purl.obolibrary.org/obo/MONDO_0013731 MEGF10-Related Myopathy 'MEGF10-Related Myopathy' SubClassOf 'Congenital myopathy' 'MEGF10-Related Myopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019952 'MEGF10-Related Myopathy' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_96147 Kleefstra syndrome due to 9q34 microdeletion 'Kleefstra syndrome due to 9q34 microdeletion' SubClassOf 'epilepsy' 'Kleefstra syndrome due to 9q34 microdeletion' SubClassOf 'Partial monosomy of the long arm of chromosome 9' 'Kleefstra syndrome due to 9q34 microdeletion' SubClassOf 'Kleefstra syndrome 1' 'Kleefstra syndrome due to 9q34 microdeletion' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96148 Distal monosomy 10q 'Distal monosomy 10q' SubClassOf 'Partial monosomy of the long arm of chromosome 10' 'Distal monosomy 10q' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia 'Infantile-onset autosomal recessive nonprogressive cerebellar ataxia' SubClassOf 'Autosomal recessive cerebellar ataxia' 'Infantile-onset autosomal recessive nonprogressive cerebellar ataxia' SubClassOf 'Autosomal recessive cerebellar ataxia' http://www.orpha.net/ORDO/Orphanet_284339 Pontocerebellar hypoplasia type 7 'Pontocerebellar hypoplasia type 7' SubClassOf 'Non-syndromic pontocerebellar hypoplasia' 'Pontocerebellar hypoplasia type 7' SubClassOf 'Non-syndromic pontocerebellar hypoplasia' http://www.orpha.net/ORDO/Orphanet_96149 Distal monosomy 12q 'Distal monosomy 12q' SubClassOf 'Partial deletion of the long arm of chromosome 12' 'Distal monosomy 12q' SubClassOf 'Partial deletion of the long arm of chromosome 12' http://purl.obolibrary.org/obo/MONDO_0013747 atrioventricular septal defect 4 'atrioventricular septal defect 4' SubClassOf 'atrioventricular septal defect' 'atrioventricular septal defect 4' SubClassOf 'atrioventricular septal defect' http://www.orpha.net/ORDO/Orphanet_96152 Distal monosomy 20q 'Distal monosomy 20q' SubClassOf 'Partial deletion of the long arm of chromosome 20' 'Distal monosomy 20q' SubClassOf 'Partial deletion of the long arm of chromosome 20' http://purl.obolibrary.org/obo/HP_0008955 Progressive distal muscular atrophy 'Progressive distal muscular atrophy' SubClassOf 'Abnormality of muscle size' 'Progressive distal muscular atrophy' SubClassOf http://purl.obolibrary.org/obo/HP_0003202 http://www.orpha.net/ORDO/Orphanet_96150 Distal monosomy 14q 'Distal monosomy 14q' SubClassOf 'Partial deletion of the long arm of chromosome 14' 'Distal monosomy 14q' SubClassOf 'Partial deletion of the long arm of chromosome 14' http://www.orpha.net/ORDO/Orphanet_250972 Polymicrogyria with optic nerve hypoplasia 'Polymicrogyria with optic nerve hypoplasia' SubClassOf 'complex cortical dysplasia with other brain malformations' http://www.orpha.net/ORDO/Orphanet_262959 Partial trisomy of the long arm of chromosome 16 'Partial trisomy of the long arm of chromosome 16' SubClassOf 'Partial duplication of chromosome 16' 'Partial trisomy of the long arm of chromosome 16' SubClassOf 'Partial duplication of chromosome 16' http://www.orpha.net/ORDO/Orphanet_250984 Autosomal recessive Stickler syndrome 'Autosomal recessive Stickler syndrome' SubClassOf 'autosomal recessive disease' 'Autosomal recessive Stickler syndrome' SubClassOf 'Stickler syndrome' 'Autosomal recessive Stickler syndrome' SubClassOf 'Multiple epiphyseal dysplasia and pseudoachondroplasia' 'Autosomal recessive Stickler syndrome' SubClassOf 'Multiple epiphyseal dysplasia and pseudoachondroplasia' 'Autosomal recessive Stickler syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019354 http://purl.obolibrary.org/obo/MONDO_0001785 malignant secondary hypertension 'malignant secondary hypertension' SubClassOf 'secondary hypertension' 'malignant secondary hypertension' SubClassOf 'secondary hypertension' http://purl.obolibrary.org/obo/MONDO_0011106 facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome 'facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome' SubClassOf 'Lens position anomaly' 'facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome' SubClassOf 'genetic disorder' 'facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020236 http://www.orpha.net/ORDO/Orphanet_262950 Partial duplication of the long arm of chromosome 15 'Partial duplication of the long arm of chromosome 15' SubClassOf 'syndrome caused by partial chromosomal duplication' 'Partial duplication of the long arm of chromosome 15' SubClassOf 'Partial autosomal trisomy/tetrasomy' 'Partial duplication of the long arm of chromosome 15' SubClassOf 'Partial autosomal trisomy/tetrasomy' http://www.orpha.net/ORDO/Orphanet_250977 AICA-ribosiduria 'AICA-ribosiduria' SubClassOf 'congenital nervous system disorder' 'AICA-ribosiduria' SubClassOf 'Genetic macular dystrophy' 'AICA-ribosiduria' SubClassOf 'Developmental anomaly of metabolic origin' 'AICA-ribosiduria' SubClassOf 'Disorder of purine metabolism' 'AICA-ribosiduria' SubClassOf 'syndromic intellectual disability' 'AICA-ribosiduria' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'AICA-ribosiduria' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'AICA-ribosiduria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_262932 Partial duplication of the long arm of chromosome 13 'Partial duplication of the long arm of chromosome 13' SubClassOf 'Partial autosomal trisomy/tetrasomy' 'Partial duplication of the long arm of chromosome 13' SubClassOf 'Partial autosomal trisomy/tetrasomy' http://purl.obolibrary.org/obo/MONDO_0037743 mediastinal soft tissue cancer 'mediastinal soft tissue cancer' SubClassOf 'mediastinal mesenchymal tumor' 'mediastinal soft tissue cancer' SubClassOf 'malignant soft tissue neoplasm' 'mediastinal soft tissue cancer' SubClassOf 'mediastinal mesenchymal tumor' 'mediastinal soft tissue cancer' SubClassOf 'malignant soft tissue neoplasm' http://www.orpha.net/ORDO/Orphanet_262941 Partial duplication of the long arm of chromosome 14 'Partial duplication of the long arm of chromosome 14' SubClassOf 'Partial autosomal trisomy/tetrasomy' 'Partial duplication of the long arm of chromosome 14' SubClassOf 'syndrome caused by partial chromosomal duplication' 'Partial duplication of the long arm of chromosome 14' SubClassOf 'Partial autosomal trisomy/tetrasomy' http://purl.obolibrary.org/obo/MONDO_0037737 peritoneal solitary fibrous tumor 'peritoneal solitary fibrous tumor' SubClassOf 'solitary fibrous tumor' 'peritoneal solitary fibrous tumor' SubClassOf 'solitary fibrous tumor' http://www.orpha.net/ORDO/Orphanet_262923 Partial duplication of the long arm of chromosome 11 'Partial duplication of the long arm of chromosome 11' SubClassOf 'Partial duplication of chromosome 11' 'Partial duplication of the long arm of chromosome 11' SubClassOf 'Partial duplication of chromosome 11' http://www.orpha.net/ORDO/Orphanet_50809 Talo-patello-scaphoid osteolysis 'Talo-patello-scaphoid osteolysis' SubClassOf 'Primary osteolysis' 'Talo-patello-scaphoid osteolysis' SubClassOf 'Primary osteolysis' http://purl.obolibrary.org/obo/MONDO_0023113 familial colorectal cancer 'familial colorectal cancer' SubClassOf 'Genetic digestive tract tumor' 'familial colorectal cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017128 http://www.orpha.net/ORDO/Orphanet_262986 Partial duplication of the long arm of chromosome 19 'Partial duplication of the long arm of chromosome 19' SubClassOf 'Partial duplication of chromosome 19' 'Partial duplication of the long arm of chromosome 19' SubClassOf 'Partial duplication of chromosome 19' http://www.orpha.net/ORDO/Orphanet_262995 Partial trisomy of the long arm of chromosome 20 'Partial trisomy of the long arm of chromosome 20' SubClassOf 'Partial trisomy of chromosome 20' 'Partial trisomy of the long arm of chromosome 20' SubClassOf 'Partial trisomy of chromosome 20' http://www.orpha.net/ORDO/Orphanet_247378 Autosomal recessive secondary polycythemia not associated with VHL gene 'Autosomal recessive secondary polycythemia not associated with VHL gene' SubClassOf 'Congenital secondary polycythemia' 'Autosomal recessive secondary polycythemia not associated with VHL gene' SubClassOf 'Congenital secondary polycythemia' http://www.orpha.net/ORDO/Orphanet_49827 Thiamine-responsive megaloblastic anemia syndrome 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf 'diabetes mellitus' 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf 'thiamine-responsive dysfunction syndrome' 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf 'Syndromic genetic deafness' 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf 'autosomal recessive disease' 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf 'Vitamin B12- and folate-independent constitutional megaloblastic anemia' 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf 'Developmental anomaly of metabolic origin' 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf 'Syndromic genetic deafness' 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf 'Disorder of thiamine metabolism and transport' 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf 'Vitamin B12- and folate-independent constitutional megaloblastic anemia' http://www.orpha.net/ORDO/Orphanet_250994 1q21.1 microduplication syndrome '1q21.1 microduplication syndrome' SubClassOf 'Partial duplication of the long arm of chromosome 1' '1q21.1 microduplication syndrome' SubClassOf 'Partial duplication of the long arm of chromosome 1' http://www.orpha.net/ORDO/Orphanet_262977 Partial trisomy of the long arm of chromosome 18 'Partial trisomy of the long arm of chromosome 18' SubClassOf 'Partial trisomy/tetrasomy of chromosome 18' 'Partial trisomy of the long arm of chromosome 18' SubClassOf 'Partial trisomy/tetrasomy of chromosome 18' http://www.ebi.ac.uk/efo/EFO_0008514 neurofibromatosis 'neurofibromatosis' SubClassOf 'autosomal dominant disease' 'neurofibromatosis' SubClassOf 'inherited nervous system cancer-predisposing syndrome' 'neurofibromatosis' SubClassOf 'Inherited cancer-predisposing syndrome' 'neurofibromatosis' SubClassOf 'Rare genetic neurological disorder' 'neurofibromatosis' SubClassOf 'autosomal dominant disease' 'neurofibromatosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015356 'neurofibromatosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 'neurofibromatosis' SubClassOf 'inherited nervous system cancer-predisposing syndrome' http://www.ebi.ac.uk/efo/EFO_0008515 nodular melanoma 'nodular melanoma' SubClassOf 'cutaneous melanoma' 'nodular melanoma' SubClassOf 'cutaneous melanoma' http://www.ebi.ac.uk/efo/EFO_0008516 non-functioning pituitary adenoma 'non-functioning pituitary adenoma' SubClassOf 'Pituitary Gland Adenoma' 'non-functioning pituitary adenoma' SubClassOf 'Pituitary Gland Adenoma' http://purl.obolibrary.org/obo/MONDO_0011153 hyperinsulinemic hypoglycemia, familial, 2 'hyperinsulinemic hypoglycemia, familial, 2' SubClassOf 'Congenital isolated hyperinsulinism' 'hyperinsulinemic hypoglycemia, familial, 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019010 http://www.orpha.net/ORDO/Orphanet_250989 1q21.1 microdeletion syndrome '1q21.1 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 1' '1q21.1 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 1' http://www.orpha.net/ORDO/Orphanet_260305 Autosomal recessive sideroblastic anemia 'Autosomal recessive sideroblastic anemia' SubClassOf 'Constitutional sideroblastic anemia' 'Autosomal recessive sideroblastic anemia' SubClassOf 'autosomal recessive disease' 'Autosomal recessive sideroblastic anemia' SubClassOf 'Constitutional sideroblastic anemia' http://www.orpha.net/ORDO/Orphanet_308552 Glycogen storage disease due to acid maltase deficiency, infantile onset 'Glycogen storage disease due to acid maltase deficiency, infantile onset' SubClassOf 'Glycogen storage disease due to acid maltase deficiency' 'Glycogen storage disease due to acid maltase deficiency, infantile onset' SubClassOf 'Glycogen storage disease due to acid maltase deficiency' http://www.ebi.ac.uk/efo/EFO_0008507 interstitial cystitis 'interstitial cystitis' SubClassOf 'chronic cystitis' 'interstitial cystitis' SubClassOf 'chronic cystitis' http://www.orpha.net/ORDO/Orphanet_262968 Partial duplication of the long arm of chromosome 17 'Partial duplication of the long arm of chromosome 17' SubClassOf 'Partial duplication of chromosome 17' 'Partial duplication of the long arm of chromosome 17' SubClassOf 'Partial duplication of chromosome 17' http://www.orpha.net/ORDO/Orphanet_250999 1q41q42 microdeletion syndrome '1q41q42 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 1' '1q41q42 microdeletion syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_247353 Generalized pustular psoriasis 'Generalized pustular psoriasis' SubClassOf 'Other genetic epidermal disease' 'Generalized pustular psoriasis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0011163 malignant hyperthermia, susceptibility to, 5 'malignant hyperthermia, susceptibility to, 5' SubClassOf 'Malignant hyperthermia' 'malignant hyperthermia, susceptibility to, 5' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018493 http://www.orpha.net/ORDO/Orphanet_139491 Hemochromatosis type 4 'Hemochromatosis type 4' SubClassOf 'hereditary hemochromatosis' 'Hemochromatosis type 4' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_140481 Autosomal dominant slowed nerve conduction velocity 'Autosomal dominant slowed nerve conduction velocity' SubClassOf 'Autosomal dominant hereditary demyelinating motor and sensory neuropathy' 'Autosomal dominant slowed nerve conduction velocity' SubClassOf 'Autosomal dominant hereditary demyelinating motor and sensory neuropathy' http://www.orpha.net/ORDO/Orphanet_404448 ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder 'ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder' SubClassOf 'congenital nervous system 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 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder' SubClassOf 'intellectual disability, autosomal dominant' 'ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_404443 Tall stature-intellectual disability-facial dysmorphism syndrome 'Tall stature-intellectual disability-facial dysmorphism syndrome' SubClassOf 'congenital nervous system disorder' 'Tall stature-intellectual disability-facial dysmorphism syndrome' SubClassOf 'syndromic intellectual disability' 'Tall stature-intellectual disability-facial dysmorphism syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Tall stature-intellectual disability-facial dysmorphism syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 'Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency' SubClassOf 'intellectual disability, autosomal dominant' 'Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency' SubClassOf 'syndromic intellectual disability' 'Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency' SubClassOf 'congenital nervous system disorder' 'Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_404437 Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome 'Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome' SubClassOf 'syndromic disease' 'Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_37612 Episodic ataxia type 1 'Episodic ataxia type 1' SubClassOf 'Hereditary episodic ataxia' 'Episodic ataxia type 1' SubClassOf 'Genetic peripheral neuropathy' 'Episodic ataxia type 1' SubClassOf 'Hereditary episodic ataxia' http://www.orpha.net/ORDO/Orphanet_139450 Microtia - eye coloboma - imperforation of the nasolacrimal duct 'Microtia - eye coloboma - imperforation of the nasolacrimal duct' SubClassOf 'Genetic developmental defect of the eye' 'Microtia - eye coloboma - imperforation of the nasolacrimal duct' SubClassOf 'Rare eye disease due to a differentiation anomaly' 'Microtia - eye coloboma - imperforation of the nasolacrimal duct' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020145 http://www.orpha.net/ORDO/Orphanet_262914 Partial duplication of the long arm of chromosome 10 'Partial duplication of the long arm of chromosome 10' SubClassOf 'Partial duplication of chromosome 10' 'Partial duplication of the long arm of chromosome 10' SubClassOf 'Partial duplication of chromosome 10' http://www.orpha.net/ORDO/Orphanet_404481 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome' SubClassOf 'Autosomal recessive cerebellar ataxia' 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome' SubClassOf 'Monogenic disease with epilepsy' 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome' SubClassOf 'Autosomal recessive cerebellar ataxia' 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome' SubClassOf 'Monogenic disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_140436 Primary intraosseous vascular malformation 'Primary intraosseous vascular malformation' SubClassOf 'Congenital vascular bone syndrome' 'Primary intraosseous vascular malformation' SubClassOf 'vascular bone neoplasm' 'Primary intraosseous vascular malformation' SubClassOf 'infantile hemangioma of rare localization' 'Primary intraosseous vascular malformation' SubClassOf 'Genetic vascular anomaly' 'Primary intraosseous vascular malformation' SubClassOf 'bone benign neoplasm' 'Primary intraosseous vascular malformation' SubClassOf 'hereditary disorder of connective tissue' 'Primary intraosseous vascular malformation' SubClassOf 'Congenital vascular bone syndrome' http://www.orpha.net/ORDO/Orphanet_139455 Autosomal recessive bestrophinopathy 'Autosomal recessive bestrophinopathy' SubClassOf 'Retinal dystrophy' 'Autosomal recessive bestrophinopathy' SubClassOf 'macular degeneration' 'Autosomal recessive bestrophinopathy' SubClassOf 'Retinal dystrophy' http://www.orpha.net/ORDO/Orphanet_250923 Isolated aniridia 'Isolated aniridia' SubClassOf 'iris disorder' 'Isolated aniridia' SubClassOf 'Major induction processes eye anomaly' 'Isolated aniridia' SubClassOf 'Aniridia' 'Isolated aniridia' SubClassOf 'Non-syndromic developmental defect of the eye' 'Isolated aniridia' EquivalentTo 'Aniridia' and ('has modifier' some 'has an isolated presentation') 'Isolated aniridia' SubClassOf 'Iridogoniodysgenesis' 'Isolated aniridia' SubClassOf 'Aniridia' 'Isolated aniridia' SubClassOf 'Non-syndromic developmental defect of the eye' http://www.ebi.ac.uk/efo/EFO_0008440 tag based single cell RNA sequencing 'tag based single cell RNA sequencing' SubClassOf 'single cell sequencing' 'tag based single cell RNA sequencing' SubClassOf 'single-cell RNA sequencing' http://www.ebi.ac.uk/efo/EFO_0008441 full length single cell RNA sequencing 'full length single cell RNA sequencing' SubClassOf 'single cell sequencing' 'full length single cell RNA sequencing' SubClassOf 'single-cell RNA sequencing' http://www.orpha.net/ORDO/Orphanet_140456 Autosomal dominant hereditary axonal motor and sensory neuropathy 'Autosomal dominant hereditary axonal motor and sensory neuropathy' SubClassOf 'axonal hereditary motor and sensory neuropathy' 'Autosomal dominant hereditary axonal motor and sensory neuropathy' SubClassOf 'autosomal dominant disease' 'Autosomal dominant hereditary axonal motor and sensory neuropathy' SubClassOf 'Hereditary motor and sensory neuropathy' http://www.orpha.net/ORDO/Orphanet_140453 Autosomal dominant hereditary demyelinating motor and sensory neuropathy 'Autosomal dominant hereditary demyelinating motor and sensory neuropathy' SubClassOf 'autosomal dominant disease' 'Autosomal dominant hereditary demyelinating motor and sensory neuropathy' SubClassOf 'demyelinating hereditary motor and sensory neuropathy' 'Autosomal dominant hereditary demyelinating motor and sensory neuropathy' SubClassOf 'Hereditary motor and sensory neuropathy' http://www.orpha.net/ORDO/Orphanet_404476 Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome 'Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome' SubClassOf 'Overgrowth syndrome' 'Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome' SubClassOf 'Inherited renal cancer-predisposing syndrome' http://www.orpha.net/ORDO/Orphanet_140450 Hereditary motor and sensory neuropathy 'Hereditary motor and sensory neuropathy' SubClassOf 'Genetic peripheral neuropathy' 'Hereditary motor and sensory neuropathy' SubClassOf 'Genetic motor neuron disease' 'Hereditary motor and sensory neuropathy' SubClassOf 'Genetic peripheral neuropathy' 'Hereditary motor and sensory neuropathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024257 http://www.orpha.net/ORDO/Orphanet_262905 Partial trisomy of the long arm of chromosome 9 'Partial trisomy of the long arm of chromosome 9' SubClassOf 'Partial trisomy/tetrasomy of chromosome 9' 'Partial trisomy of the long arm of chromosome 9' SubClassOf 'Partial trisomy/tetrasomy of chromosome 9' http://www.orpha.net/ORDO/Orphanet_404473 Severe intellectual disability-progressive spastic diplegia syndrome 'Severe intellectual disability-progressive spastic diplegia syndrome' SubClassOf 'congenital nervous system disorder' 'Severe intellectual disability-progressive spastic diplegia syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Severe intellectual disability-progressive spastic diplegia syndrome' SubClassOf 'intellectual disability, autosomal dominant' 'Severe intellectual disability-progressive spastic diplegia syndrome' SubClassOf 'syndromic intellectual disability' 'Severe intellectual disability-progressive spastic diplegia syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_139466 SERKAL syndrome 'SERKAL syndrome' SubClassOf '46,XX gonadal dysgenesis' 'SERKAL syndrome' SubClassOf 'Syndrome with 46,XX disorder of sex development' 'SERKAL syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_250932 Autosomal dominant optic atrophy and peripheral neuropathy 'Autosomal dominant optic atrophy and peripheral neuropathy' SubClassOf 'Autosomal dominant optic atrophy' 'Autosomal dominant optic atrophy and peripheral neuropathy' SubClassOf 'Autosomal dominant optic atrophy' http://www.orpha.net/ORDO/Orphanet_139471 Microphthalmia with brain and digit anomalies 'Microphthalmia with brain and digit anomalies' SubClassOf 'Syndromic microphthalmia' 'Microphthalmia with brain and digit anomalies' SubClassOf 'Syndromic microphthalmia' http://www.orpha.net/ORDO/Orphanet_140465 Autosomal dominant distal hereditary motor neuropathy 'Autosomal dominant distal hereditary motor neuropathy' SubClassOf 'spinal muscular atrophy' 'Autosomal dominant distal hereditary motor neuropathy' SubClassOf 'autosomal dominant disease' 'Autosomal dominant distal hereditary motor neuropathy' SubClassOf 'Distal hereditary motor neuropathy' 'Autosomal dominant distal hereditary motor neuropathy' SubClassOf 'Distal spinal muscular atrophy' 'Autosomal dominant distal hereditary motor neuropathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018894 'Autosomal dominant distal hereditary motor neuropathy' SubClassOf 'Distal hereditary motor neuropathy' http://www.orpha.net/ORDO/Orphanet_404466 Female infertility due to zona pellucida defect 'Female infertility due to zona pellucida defect' SubClassOf 'inherited oocyte maturation defect' 'Female infertility due to zona pellucida defect' SubClassOf 'female infertility' http://www.orpha.net/ORDO/Orphanet_404463 Multisystemic smooth muscle dysfunction syndrome 'Multisystemic smooth muscle dysfunction syndrome' SubClassOf 'disease of genitourinary system' 'Multisystemic smooth muscle dysfunction syndrome' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'Multisystemic smooth muscle dysfunction syndrome' SubClassOf 'intestinal motility disease' 'Multisystemic smooth muscle dysfunction syndrome' SubClassOf 'Genetic central nervous system and retinal vascular disease' http://www.orpha.net/ORDO/Orphanet_140459 Autosomal recessive hereditary demyelinating motor and sensory neuropathy 'Autosomal recessive hereditary demyelinating motor and sensory neuropathy' SubClassOf 'autosomal recessive disease' 'Autosomal recessive hereditary demyelinating motor and sensory neuropathy' SubClassOf 'demyelinating hereditary motor and sensory neuropathy' 'Autosomal recessive hereditary demyelinating motor and sensory neuropathy' SubClassOf 'Hereditary motor and sensory neuropathy' http://www.orpha.net/ORDO/Orphanet_139474 17q11.2 microduplication syndrome '17q11.2 microduplication syndrome' SubClassOf 'Partial duplication of the long arm of chromosome 17' '17q11.2 microduplication syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' '17q11.2 microduplication syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_139480 Autosomal recessive spastic paraplegia type 39 'Autosomal recessive spastic paraplegia type 39' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 39' SubClassOf 'Rare syndromic dyslipidemia' 'Autosomal recessive spastic paraplegia type 39' SubClassOf 'Autosomal recessive complex spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_140477 Autosomal recessive hereditary sensory and autonomic neuropathy 'Autosomal recessive hereditary sensory and autonomic neuropathy' SubClassOf 'autosomal recessive disease' 'Autosomal recessive hereditary sensory and autonomic neuropathy' SubClassOf 'Hereditary sensory and autonomic neuropathy' 'Autosomal recessive hereditary sensory and autonomic neuropathy' SubClassOf 'Hereditary sensory and autonomic neuropathy' http://www.orpha.net/ORDO/Orphanet_404454 Alacrimia-choreoathetosis-liver dysfunction syndrome 'Alacrimia-choreoathetosis-liver dysfunction syndrome' SubClassOf 'syndromic intellectual disability' 'Alacrimia-choreoathetosis-liver dysfunction syndrome' SubClassOf 'Disorder of carbohydrate metabolism' 'Alacrimia-choreoathetosis-liver dysfunction syndrome' SubClassOf 'glycoprotein metabolism disease' http://www.orpha.net/ORDO/Orphanet_140474 Autosomal dominant hereditary sensory and autonomic neuropathy 'Autosomal dominant hereditary sensory and autonomic neuropathy' SubClassOf 'autosomal dominant disease' 'Autosomal dominant hereditary sensory and autonomic neuropathy' SubClassOf 'Hereditary sensory and autonomic neuropathy' 'Autosomal dominant hereditary sensory and autonomic neuropathy' SubClassOf 'Hereditary sensory and autonomic neuropathy' http://www.orpha.net/ORDO/Orphanet_140471 Hereditary sensory and autonomic neuropathy 'Hereditary sensory and autonomic neuropathy' SubClassOf 'sensory peripheral neuropathy' 'Hereditary sensory and autonomic neuropathy' EquivalentTo 'sensory peripheral neuropathy' and ('has modifier' some 'inherited') 'Hereditary sensory and autonomic neuropathy' SubClassOf 'Genetic peripheral neuropathy' 'Hereditary sensory and autonomic neuropathy' SubClassOf 'Genetic peripheral neuropathy' http://www.orpha.net/ORDO/Orphanet_404451 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome 'FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '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 'Rare genetic intellectual disability with developmental anomaly' 'FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome' SubClassOf 'congenital nervous system disorder' 'FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_140468 Autosomal recessive distal hereditary motor neuropathy 'Autosomal recessive distal hereditary motor neuropathy' SubClassOf 'Distal hereditary motor neuropathy' 'Autosomal recessive distal hereditary motor neuropathy' SubClassOf 'Distal spinal muscular atrophy' 'Autosomal recessive distal hereditary motor neuropathy' SubClassOf 'autosomal recessive disease' 'Autosomal recessive distal hereditary motor neuropathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018894 'Autosomal recessive distal hereditary motor neuropathy' SubClassOf 'Distal hereditary motor neuropathy' http://www.orpha.net/ORDO/Orphanet_139485 Autosomal recessive ataxia due to ubiquinone deficiency 'Autosomal recessive ataxia due to ubiquinone deficiency' SubClassOf 'Coenzyme Q10 deficiency' 'Autosomal recessive ataxia due to ubiquinone deficiency' SubClassOf 'Autosomal recessive cerebellar ataxia' 'Autosomal recessive ataxia due to ubiquinone deficiency' EquivalentTo 'Autosomal recessive cerebellar ataxia' and 'Coenzyme Q10 deficiency' 'Autosomal recessive ataxia due to ubiquinone deficiency' SubClassOf 'Coenzyme Q10 deficiency' 'Autosomal recessive ataxia due to ubiquinone deficiency' SubClassOf 'Autosomal recessive cerebellar ataxia' http://www.ebi.ac.uk/efo/EFO_0008498 clear cell sarcoma 'clear cell sarcoma' SubClassOf 'soft tissue sarcoma' 'clear cell sarcoma' SubClassOf 'soft tissue sarcoma' http://www.ebi.ac.uk/efo/EFO_0008499 DNA repair deficiency 'DNA repair deficiency' SubClassOf 'Inborn errors of metabolism' 'DNA repair deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019052 http://www.ebi.ac.uk/efo/EFO_0008495 childhood supratentorial ependymoma 'childhood supratentorial ependymoma' SubClassOf 'childhood ependymoma' 'childhood supratentorial ependymoma' SubClassOf 'childhood ependymoma' http://www.orpha.net/ORDO/Orphanet_98616 Conjunctival tumor 'Conjunctival tumor' SubClassOf 'Conjunctival Disorder' 'Conjunctival tumor' SubClassOf 'has modifier' some 'rare' 'Conjunctival tumor' SubClassOf 'eye neoplasm' http://www.orpha.net/ORDO/Orphanet_98615 Pigmented conjunctival lesion 'Pigmented conjunctival lesion' SubClassOf 'has modifier' some 'rare' 'Pigmented conjunctival lesion' SubClassOf 'Conjunctival Disorder' http://www.orpha.net/ORDO/Orphanet_98617 Bulbar conjunctival dermoid or conjunctival dermolipoma 'Bulbar conjunctival dermoid or conjunctival dermolipoma' SubClassOf 'Conjunctival tumor' 'Bulbar conjunctival dermoid or conjunctival dermolipoma' SubClassOf 'Conjunctival tumor' http://www.orpha.net/ORDO/Orphanet_98620 Syndromic myopia 'Syndromic myopia' SubClassOf 'syndromic disease' 'Syndromic myopia' SubClassOf 'refractive error' http://www.orpha.net/ORDO/Orphanet_98623 Syndromic keratoconus 'Syndromic keratoconus' EquivalentTo 'Keratoconus' and ('has modifier' some 'has a syndromic presentation') 'Syndromic keratoconus' SubClassOf 'syndromic disease' 'Syndromic keratoconus' SubClassOf 'Keratoconus' 'Syndromic keratoconus' SubClassOf 'Keratoconus' http://www.orpha.net/ORDO/Orphanet_98622 Syndromic hyperopia 'Syndromic hyperopia' SubClassOf 'hyperopia' 'Syndromic hyperopia' EquivalentTo 'hyperopia' and ('has modifier' some 'has a syndromic presentation') 'Syndromic hyperopia' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_139411 Carney triad 'Carney triad' SubClassOf 'disease has feature' some 'extra-adrenal sympathetic paraganglioma' 'Carney triad' SubClassOf 'Multiple polyglandular tumor' 'Carney triad' SubClassOf 'disease has feature' some 'Gastrointestinal stromal tumor' 'Carney triad' SubClassOf 'has modifier' some 'acquired' 'Carney triad' SubClassOf 'disease has feature' some 'lung neoplasm' 'Carney triad' SubClassOf 'neoplastic syndrome' 'Carney triad' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98625 Superficial corneal dystrophy 'Superficial corneal dystrophy' SubClassOf 'Corneal dystrophy' 'Superficial corneal dystrophy' SubClassOf 'Corneal dystrophy' http://www.orpha.net/ORDO/Orphanet_98627 Posterior corneal dystrophy 'Posterior corneal dystrophy' SubClassOf 'Corneal dystrophy' 'Posterior corneal dystrophy' SubClassOf 'Corneal dystrophy' http://www.orpha.net/ORDO/Orphanet_98626 Stromal corneal dystrophy 'Stromal corneal dystrophy' SubClassOf 'Corneal dystrophy' 'Stromal corneal dystrophy' SubClassOf 'Corneal dystrophy' http://www.orpha.net/ORDO/Orphanet_98628 Syndromic corneal dystrophy 'Syndromic corneal dystrophy' SubClassOf 'syndromic disease' 'Syndromic corneal dystrophy' SubClassOf 'Corneal dystrophy' 'Syndromic corneal dystrophy' EquivalentTo 'Corneal dystrophy' and ('has modifier' some 'has a syndromic presentation') 'Syndromic corneal dystrophy' SubClassOf 'Corneal dystrophy' http://www.orpha.net/ORDO/Orphanet_98631 Secondary dysgenetic glaucoma 'Secondary dysgenetic glaucoma' SubClassOf 'Hereditary glaucoma' 'Secondary dysgenetic glaucoma' SubClassOf 'Hereditary glaucoma' http://www.orpha.net/ORDO/Orphanet_98634 Iridogoniodysgenesis 'Iridogoniodysgenesis' SubClassOf 'Familial ocular anterior segment mesenchymal dysgenesis' http://www.orpha.net/ORDO/Orphanet_47044 Familial papillary renal cell carcinoma 'Familial papillary renal cell carcinoma' SubClassOf 'Genetic renal tumor' 'Familial papillary renal cell carcinoma' SubClassOf 'Inherited renal cancer-predisposing syndrome' 'Familial papillary renal cell carcinoma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_47045 Familial cold urticaria 'Familial cold urticaria' SubClassOf 'Cryopyrin-associated periodic syndrome' 'Familial cold urticaria' SubClassOf 'Cryopyrin-associated periodic syndrome' http://www.orpha.net/ORDO/Orphanet_98633 Goniodysgenesis 'Goniodysgenesis' SubClassOf 'Secondary dysgenetic glaucoma' http://www.ebi.ac.uk/efo/EFO_0008490 ampulla of Vater adenocarcinoma 'ampulla of Vater adenocarcinoma' SubClassOf 'Ampulla of Vater Carcinoma' 'ampulla of Vater adenocarcinoma' SubClassOf 'Ampulla of Vater Carcinoma' http://www.ebi.ac.uk/efo/EFO_0008493 cerebral small vessel disease 'cerebral small vessel disease' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'cerebral small vessel disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015953 http://www.orpha.net/ORDO/Orphanet_98636 Corneoiridogoniodysgenesis 'Corneoiridogoniodysgenesis' SubClassOf 'Secondary dysgenetic glaucoma' http://www.orpha.net/ORDO/Orphanet_98635 Corneogoniodysgenesis 'Corneogoniodysgenesis' SubClassOf 'corneal disease' http://www.orpha.net/ORDO/Orphanet_35069 Infantile neuroaxonal dystrophy 'Infantile neuroaxonal dystrophy' SubClassOf 'Genetic peripheral neuropathy' 'Infantile neuroaxonal dystrophy' SubClassOf 'PLA2G6-associated neurodegeneration' 'Infantile neuroaxonal dystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98641 Syndromic cataract 'Syndromic cataract' EquivalentTo 'cataract' and ('has modifier' some 'has a syndromic presentation') 'Syndromic cataract' SubClassOf 'cataract' 'Syndromic cataract' SubClassOf 'has modifier' some 'rare' 'Syndromic cataract' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency' SubClassOf 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome' 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98652 Lens size anomaly 'Lens size anomaly' SubClassOf 'eye disease' http://www.orpha.net/ORDO/Orphanet_404493 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency' SubClassOf 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome' 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency' SubClassOf 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome' http://www.orpha.net/ORDO/Orphanet_98653 Lens position anomaly 'Lens position anomaly' SubClassOf 'lens disease' http://www.orpha.net/ORDO/Orphanet_98655 Lens shape anomaly 'Lens shape anomaly' SubClassOf 'eye disease' http://www.orpha.net/ORDO/Orphanet_139444 Leukoencephalopathy with bilateral anterior temporal lobe cysts 'Leukoencephalopathy with bilateral anterior temporal lobe cysts' SubClassOf 'Leukodystrophy' 'Leukoencephalopathy with bilateral anterior temporal lobe cysts' SubClassOf 'Leukodystrophy' http://www.orpha.net/ORDO/Orphanet_139447 Progressive cavitating leukoencephalopathy 'Progressive cavitating leukoencephalopathy' SubClassOf 'Leukodystrophy' 'Progressive cavitating leukoencephalopathy' SubClassOf 'Leukodystrophy' http://www.orpha.net/ORDO/Orphanet_139441 Hypomyelination with atrophy of basal ganglia and cerebellum 'Hypomyelination with atrophy of basal ganglia and cerebellum' SubClassOf 'Leukodystrophy' 'Hypomyelination with atrophy of basal ganglia and cerebellum' SubClassOf 'Leukodystrophy' http://www.orpha.net/ORDO/Orphanet_60041 Congenital heart block 'Congenital heart block' SubClassOf 'has modifier' some 'rare' 'Congenital heart block' SubClassOf 'has modifier' some 'congenital' 'Congenital heart block' SubClassOf 'atrioventricular block' http://www.orpha.net/ORDO/Orphanet_60040 Megalencephaly-capillary malformation-polymicrogyria syndrome 'Megalencephaly-capillary malformation-polymicrogyria syndrome' SubClassOf 'overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes' 'Megalencephaly-capillary malformation-polymicrogyria syndrome' SubClassOf 'disease has feature' some 'capillary malformation' http://www.orpha.net/ORDO/Orphanet_284271 Autosomal recessive cerebellar ataxia - psychomotor retardation 'Autosomal recessive cerebellar ataxia - psychomotor retardation' SubClassOf 'Autosomal recessive syndromic cerebellar ataxia' 'Autosomal recessive cerebellar ataxia - psychomotor retardation' SubClassOf 'Autosomal recessive syndromic cerebellar ataxia' http://www.orpha.net/ORDO/Orphanet_35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency 'T-B+ severe combined immunodeficiency due to JAK3 deficiency' SubClassOf 'T-B+ severe combined immunodeficiency' 'T-B+ severe combined immunodeficiency due to JAK3 deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_394529 Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type 'Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type' SubClassOf 'Multiple acyl-CoA dehydrogenase deficiency' 'Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_284282 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency' SubClassOf 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome' 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_394532 Multiple acyl-CoA dehydrogenation deficiency, mild type 'Multiple acyl-CoA dehydrogenation deficiency, mild type' SubClassOf 'Multiple acyl-CoA dehydrogenase deficiency' 'Multiple acyl-CoA dehydrogenation deficiency, mild type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_284289 Adult-onset autosomal recessive cerebellar ataxia 'Adult-onset autosomal recessive cerebellar ataxia' SubClassOf 'Autosomal recessive cerebellar ataxia' 'Adult-onset autosomal recessive cerebellar ataxia' SubClassOf 'Autosomal recessive cerebellar ataxia' http://www.orpha.net/ORDO/Orphanet_60015 Parietal foramina 'Parietal foramina' SubClassOf 'cranial malformation' 'Parietal foramina' SubClassOf 'Primary bone dysplasia' 'Parietal foramina' SubClassOf 'Neural tube defect' http://www.orpha.net/ORDO/Orphanet_60030 Loeys-Dietz syndrome 'Loeys-Dietz syndrome' SubClassOf 'has modifier' some 'rare' 'Loeys-Dietz syndrome' SubClassOf 'syndromic disease' 'Loeys-Dietz syndrome' SubClassOf 'Marfan and Marfan-related disorder' 'Loeys-Dietz syndrome' SubClassOf 'vascular disease' 'Loeys-Dietz syndrome' SubClassOf 'Rare disease with thoracic aortic aneurysm and aortic dissection' 'Loeys-Dietz syndrome' SubClassOf 'autosomal dominant disease' 'Loeys-Dietz syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_35099 Isolated brachycephaly 'Isolated brachycephaly' SubClassOf 'Isolated craniosynostosis' 'Isolated brachycephaly' SubClassOf 'Isolated craniosynostosis' http://www.orpha.net/ORDO/Orphanet_35098 Isolated plagiocephaly 'Isolated plagiocephaly' SubClassOf 'Isolated craniosynostosis' 'Isolated plagiocephaly' SubClassOf 'Isolated craniosynostosis' http://www.orpha.net/ORDO/Orphanet_98603 Secretory apparatus of the lacrimal system anomaly 'Secretory apparatus of the lacrimal system anomaly' SubClassOf 'has modifier' some 'rare' 'Secretory apparatus of the lacrimal system anomaly' SubClassOf 'lacrimal apparatus disease' http://www.orpha.net/ORDO/Orphanet_98605 Excretory apparatus of the lacrimal system anomaly 'Excretory apparatus of the lacrimal system anomaly' SubClassOf 'lacrimal apparatus disease' 'Excretory apparatus of the lacrimal system anomaly' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_98604 Congenital alacrima 'Congenital alacrima' SubClassOf 'has modifier' some 'congenital' 'Congenital alacrima' SubClassOf 'Secretory apparatus of the lacrimal system anomaly' 'Congenital alacrima' SubClassOf 'Secretory apparatus of the lacrimal system anomaly' http://www.orpha.net/ORDO/Orphanet_98606 Syndromic orbital border hypoplasia 'Syndromic orbital border hypoplasia' SubClassOf 'Excretory apparatus of the lacrimal system anomaly' 'Syndromic orbital border hypoplasia' SubClassOf 'Excretory apparatus of the lacrimal system anomaly' http://www.orpha.net/ORDO/Orphanet_98609 EEC syndrome and related syndrome 'EEC syndrome and related syndrome' SubClassOf 'Anomaly of the secretory and excretory apparatus of the lacrimal system' 'EEC syndrome and related syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'EEC syndrome and related syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98608 Anomaly of the secretory and excretory apparatus of the lacrimal system 'Anomaly of the secretory and excretory apparatus of the lacrimal system' SubClassOf 'lacrimal apparatus disease' 'Anomaly of the secretory and excretory apparatus of the lacrimal system' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_139406 Encephalopathy due to prosaposin deficiency 'Encephalopathy due to prosaposin deficiency' SubClassOf 'Neurometabolic disease' 'Encephalopathy due to prosaposin deficiency' SubClassOf 'Sphingolipidosis' 'Encephalopathy due to prosaposin deficiency' SubClassOf 'Neurometabolic disease' 'Encephalopathy due to prosaposin deficiency' SubClassOf 'Sphingolipidosis' http://www.orpha.net/ORDO/Orphanet_60025 Pulmonary alveolar microlithiasis 'Pulmonary alveolar microlithiasis' SubClassOf 'has modifier' some 'rare' 'Pulmonary alveolar microlithiasis' SubClassOf 'lung disease' http://www.orpha.net/ORDO/Orphanet_35093 Isolated scaphocephaly 'Isolated scaphocephaly' SubClassOf 'Isolated craniosynostosis' 'Isolated scaphocephaly' SubClassOf 'Isolated craniosynostosis' http://www.orpha.net/ORDO/Orphanet_284232 Autosomal dominant Charcot-Marie-Tooth disease type 2O 'Autosomal dominant Charcot-Marie-Tooth disease type 2O' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'Autosomal dominant Charcot-Marie-Tooth disease type 2O' SubClassOf 'Autosomal dominant Charcot-Marie-Tooth disease type 2' 'Autosomal dominant Charcot-Marie-Tooth disease type 2O' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://www.orpha.net/ORDO/Orphanet_96055 Tetrasomy 21 'Tetrasomy 21' SubClassOf 'chromosome 21 disorder' 'Tetrasomy 21' SubClassOf 'tetrasomy' 'Tetrasomy 21' SubClassOf 'Partial autosomal trisomy/tetrasomy' 'Tetrasomy 21' SubClassOf 'Partial autosomal trisomy/tetrasomy' http://www.orpha.net/ORDO/Orphanet_96059 Mosaic trisomy 4 'Mosaic trisomy 4' SubClassOf 'has modifier' some 'mosaic' 'Mosaic trisomy 4' SubClassOf 'chromosome 4 disorder' 'Mosaic trisomy 4' SubClassOf 'Total autosomal trisomy' 'Mosaic trisomy 4' SubClassOf 'trisomy' 'Mosaic trisomy 4' SubClassOf 'Total autosomal trisomy' http://www.orpha.net/ORDO/Orphanet_308655 Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form 'Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form' SubClassOf 'Glycogen storage disease due to glycogen branching enzyme deficiency' 'Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form' SubClassOf 'Glycogen storage disease due to glycogen branching enzyme deficiency' http://www.orpha.net/ORDO/Orphanet_284247 Familial retinal arterial macroaneurysm 'Familial retinal arterial macroaneurysm' SubClassOf 'heart disease' 'Familial retinal arterial macroaneurysm' SubClassOf 'Genetic vitreous-retinal disease' 'Familial retinal arterial macroaneurysm' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'Familial retinal arterial macroaneurysm' SubClassOf 'Genetic vitreous-retinal disease' http://www.orpha.net/ORDO/Orphanet_96068 Mosaic trisomy 22 'Mosaic trisomy 22' SubClassOf 'trisomy 22' 'Mosaic trisomy 22' SubClassOf 'has modifier' some 'mosaic' 'Mosaic trisomy 22' SubClassOf 'Total autosomal trisomy' 'Mosaic trisomy 22' SubClassOf 'Total autosomal trisomy' http://www.orpha.net/ORDO/Orphanet_96069 Distal trisomy 1p36 'Distal trisomy 1p36' SubClassOf 'Partial duplication of the short arm of chromosome 1' 'Distal trisomy 1p36' SubClassOf 'Partial duplication of the short arm of chromosome 1' http://www.orpha.net/ORDO/Orphanet_308621 Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form 'Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form' SubClassOf 'Glycogen storage disease due to glycogen branching enzyme deficiency' 'Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form' SubClassOf 'Glycogen storage disease due to glycogen branching enzyme deficiency' http://www.orpha.net/ORDO/Orphanet_96060 Mosaic trisomy 5 'Mosaic trisomy 5' SubClassOf 'chromosome 5 disorder' 'Mosaic trisomy 5' SubClassOf 'has modifier' some 'mosaic' 'Mosaic trisomy 5' SubClassOf 'trisomy' 'Mosaic trisomy 5' SubClassOf 'Total autosomal trisomy' 'Mosaic trisomy 5' SubClassOf 'Total autosomal trisomy' http://www.orpha.net/ORDO/Orphanet_96061 Mosaic trisomy 8 'Mosaic trisomy 8' SubClassOf 'chromosome 8, trisomy' 'Mosaic trisomy 8' SubClassOf 'has modifier' some 'mosaic' 'Mosaic trisomy 8' SubClassOf 'Total autosomal trisomy' 'Mosaic trisomy 8' SubClassOf 'Total autosomal trisomy' http://www.orpha.net/ORDO/Orphanet_247262 Hyperphosphatasia-intellectual disability syndrome 'Hyperphosphatasia-intellectual disability syndrome' SubClassOf 'congenital nervous system disorder' 'Hyperphosphatasia-intellectual disability syndrome' SubClassOf 'Congenital disorder of glycosylation-related bone disorder' 'Hyperphosphatasia-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'Hyperphosphatasia-intellectual disability syndrome' SubClassOf 'Rare syndromic dyslipidemia' 'Hyperphosphatasia-intellectual disability syndrome' SubClassOf 'congenital limb malformation' 'Hyperphosphatasia-intellectual disability syndrome' SubClassOf 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' 'Hyperphosphatasia-intellectual disability syndrome' SubClassOf 'Congenital disorder of glycosylation-related bone disorder' 'Hyperphosphatasia-intellectual disability syndrome' SubClassOf 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' http://www.orpha.net/ORDO/Orphanet_96063 Mosaic trisomy 10 'Mosaic trisomy 10' SubClassOf 'has modifier' some 'mosaic' 'Mosaic trisomy 10' SubClassOf 'chromosome 10 disorder' 'Mosaic trisomy 10' SubClassOf 'trisomy' 'Mosaic trisomy 10' SubClassOf 'Total autosomal trisomy' 'Mosaic trisomy 10' SubClassOf 'Total autosomal trisomy' http://www.orpha.net/ORDO/Orphanet_262887 Partial duplication of the long arm of chromosome 7 'Partial duplication of the long arm of chromosome 7' SubClassOf 'Partial duplication of chromosome 7' 'Partial duplication of the long arm of chromosome 7' SubClassOf 'Partial duplication of chromosome 7' http://www.orpha.net/ORDO/Orphanet_96076 Beckwith-Wiedemann syndrome due to 11p15 microduplication 'Beckwith-Wiedemann syndrome due to 11p15 microduplication' SubClassOf 'Beckwith-Wiedemann syndrome' 'Beckwith-Wiedemann syndrome due to 11p15 microduplication' SubClassOf 'Partial duplication of the short arm of chromosome 11' 'Beckwith-Wiedemann syndrome due to 11p15 microduplication' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96078 16p13.3 microduplication syndrome '16p13.3 microduplication syndrome' SubClassOf 'Partial duplication of the short arm of chromosome 16' '16p13.3 microduplication syndrome' SubClassOf 'Partial duplication of the short arm of chromosome 16' http://www.orpha.net/ORDO/Orphanet_262896 Partial duplication of the long arm of chromosome 8 'Partial duplication of the long arm of chromosome 8' SubClassOf 'Partial duplication of chromosome 8' 'Partial duplication of the long arm of chromosome 8' SubClassOf 'Partial duplication of chromosome 8' http://www.orpha.net/ORDO/Orphanet_96070 Distal trisomy 2p 'Distal trisomy 2p' SubClassOf 'Partial duplication of the short arm of chromosome 2' 'Distal trisomy 2p' SubClassOf 'Partial duplication of the short arm of chromosome 2' http://www.orpha.net/ORDO/Orphanet_308638 Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form 'Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form' SubClassOf 'Glycogen storage disease due to glycogen branching enzyme deficiency' 'Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form' SubClassOf 'Glycogen storage disease due to glycogen branching enzyme deficiency' http://www.orpha.net/ORDO/Orphanet_96071 Distal trisomy 3p 'Distal trisomy 3p' SubClassOf 'Partial duplication of the short arm of chromosome 3' 'Distal trisomy 3p' SubClassOf 'Partial duplication of the short arm of chromosome 3' http://www.orpha.net/ORDO/Orphanet_96072 4p16.3 microduplication syndrome '4p16.3 microduplication syndrome' SubClassOf 'Overgrowth syndrome' '4p16.3 microduplication syndrome' SubClassOf 'Partial duplication of the short arm of chromosome 4' '4p16.3 microduplication syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96074 Distal trisomy 7p 'Distal trisomy 7p' SubClassOf 'Partial duplication of the short arm of chromosome 7' 'Distal trisomy 7p' SubClassOf 'Partial duplication of the short arm of chromosome 7' http://www.orpha.net/ORDO/Orphanet_84096 Unknown leukodystrophy 'Unknown leukodystrophy' SubClassOf 'Leukodystrophy' 'Unknown leukodystrophy' SubClassOf 'Leukodystrophy' http://www.orpha.net/ORDO/Orphanet_98658 Color-vision disease 'Color-vision disease' SubClassOf 'blindness (disorder)' http://www.orpha.net/ORDO/Orphanet_98657 Genetic vitreous-retinal disease 'Genetic vitreous-retinal disease' SubClassOf 'retinopathy' 'Genetic vitreous-retinal disease' SubClassOf 'vitreous body disease' 'Genetic vitreous-retinal disease' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_84090 Fibronectin glomerulopathy 'Fibronectin glomerulopathy' SubClassOf 'Primary glomerular disease' 'Fibronectin glomerulopathy' SubClassOf 'Primary glomerular disease' http://www.orpha.net/ORDO/Orphanet_84093 Hereditary thermosensitive neuropathy 'Hereditary thermosensitive neuropathy' SubClassOf 'Autosomal dominant hereditary demyelinating motor and sensory neuropathy' 'Hereditary thermosensitive neuropathy' SubClassOf 'Autosomal dominant hereditary demyelinating motor and sensory neuropathy' http://www.orpha.net/ORDO/Orphanet_98661 Syndromic retinitis pigmentosa 'Syndromic retinitis pigmentosa' SubClassOf 'Retinitis pigmentosa' 'Syndromic retinitis pigmentosa' SubClassOf 'syndromic disease' 'Syndromic retinitis pigmentosa' EquivalentTo 'Retinitis pigmentosa' and ('has modifier' some 'has a syndromic presentation') 'Syndromic retinitis pigmentosa' SubClassOf 'Retinal dystrophy' http://www.orpha.net/ORDO/Orphanet_98665 Colobomatous and areolar dystrophy 'Colobomatous and areolar dystrophy' SubClassOf 'Genetic macular dystrophy' 'Colobomatous and areolar dystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98664 Genetic macular dystrophy 'Genetic macular dystrophy' SubClassOf 'Retinal dystrophy' 'Genetic macular dystrophy' SubClassOf 'Retinal dystrophy' http://www.orpha.net/ORDO/Orphanet_98667 Disease predisposing to age-related macular degeneration 'Disease predisposing to age-related macular degeneration' SubClassOf 'disease has feature' some 'age-related macular degeneration' 'Disease predisposing to age-related macular degeneration' SubClassOf 'Genetic vitreous-retinal disease' 'Disease predisposing to age-related macular degeneration' SubClassOf 'Genetic vitreous-retinal disease' http://www.orpha.net/ORDO/Orphanet_308604 Glycogen storage disease due to acid maltase deficiency, adult onset 'Glycogen storage disease due to acid maltase deficiency, adult onset' SubClassOf 'Glycogen storage disease due to acid maltase deficiency' 'Glycogen storage disease due to acid maltase deficiency, adult onset' SubClassOf 'Glycogen storage disease due to acid maltase deficiency' http://www.orpha.net/ORDO/Orphanet_98669 Congenital vitreoretinal dysplasia 'Congenital vitreoretinal dysplasia' SubClassOf 'Vitreoretinopathy' 'Congenital vitreoretinal dysplasia' SubClassOf 'congenital nervous system disorder' 'Congenital vitreoretinal dysplasia' SubClassOf 'Vitreoretinopathy' http://www.orpha.net/ORDO/Orphanet_98668 Vitreoretinopathy 'Vitreoretinopathy' SubClassOf 'Genetic vitreous-retinal disease' 'Vitreoretinopathy' SubClassOf 'Genetic vitreous-retinal disease' http://www.orpha.net/ORDO/Orphanet_84081 Senior-Boichis syndrome 'Senior-Boichis syndrome' SubClassOf 'Genetic renal tubular disease' 'Senior-Boichis syndrome' SubClassOf 'Familial cystic renal disease' 'Senior-Boichis syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98672 Autosomal dominant optic atrophy 'Autosomal dominant optic atrophy' SubClassOf 'autosomal dominant disease' 'Autosomal dominant optic atrophy' SubClassOf 'hereditary optic atrophy' 'Autosomal dominant optic atrophy' SubClassOf 'Genetic optic atrophy' 'Autosomal dominant optic atrophy' SubClassOf 'eye degenerative disorder' 'Autosomal dominant optic atrophy' SubClassOf 'Optic neuropathy' 'Autosomal dominant optic atrophy' SubClassOf 'hereditary optic atrophy' http://www.orpha.net/ORDO/Orphanet_98671 Optic neuropathy 'Optic neuropathy' SubClassOf 'has modifier' some 'rare' 'Optic neuropathy' SubClassOf 'eye disease' http://www.orpha.net/ORDO/Orphanet_98673 Autosomal dominant optic atrophy, classic type 'Autosomal dominant optic atrophy, classic type' SubClassOf 'Autosomal dominant optic atrophy' 'Autosomal dominant optic atrophy, classic type' SubClassOf 'Autosomal dominant optic atrophy' http://www.orpha.net/ORDO/Orphanet_98676 Autosomal recessive isolated optic atrophy 'Autosomal recessive isolated optic atrophy' SubClassOf 'autosomal recessive disease' 'Autosomal recessive isolated optic atrophy' SubClassOf 'hereditary optic atrophy' 'Autosomal recessive isolated optic atrophy' SubClassOf 'Optic neuropathy' 'Autosomal recessive isolated optic atrophy' SubClassOf 'eye degenerative disorder' http://www.orpha.net/ORDO/Orphanet_98675 Autosomal recessive optic atrophy 'Autosomal recessive optic atrophy' SubClassOf 'Genetic optic atrophy' 'Autosomal recessive optic atrophy' SubClassOf 'hereditary optic atrophy' http://www.orpha.net/ORDO/Orphanet_98678 X-linked recessive optic atrophy 'X-linked recessive optic atrophy' SubClassOf 'Genetic optic atrophy' 'X-linked recessive optic atrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98677 Autosomal recessive syndromic optic atrophy 'Autosomal recessive syndromic optic atrophy' SubClassOf 'Autosomal recessive optic atrophy' 'Autosomal recessive syndromic optic atrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98670 Vitreoretinal degeneration 'Vitreoretinal degeneration' SubClassOf 'vitreous syneresis' 'Vitreoretinal degeneration' SubClassOf 'Genetic neurodegenerative disease' 'Vitreoretinal degeneration' SubClassOf 'Vitreoretinopathy' 'Vitreoretinal degeneration' SubClassOf 'Vitreoretinopathy' http://www.orpha.net/ORDO/Orphanet_98682 Essential strabismus 'Essential strabismus' SubClassOf 'Genetic neuro-ophthalmological disease' http://www.orpha.net/ORDO/Orphanet_98685 Oculomotor palsy 'Oculomotor palsy' SubClassOf 'cranial nerve palsy' 'Oculomotor palsy' SubClassOf 'Genetic neuro-ophthalmological disease' 'Oculomotor palsy' SubClassOf 'third cranial nerve disorder' 'Oculomotor palsy' SubClassOf 'Rare genetic neurological disorder' 'Oculomotor palsy' SubClassOf 'Genetic neuro-ophthalmological disease' 'Oculomotor palsy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 http://www.orpha.net/ORDO/Orphanet_98687 Supranuclear oculomotor palsy 'Supranuclear oculomotor palsy' SubClassOf 'Oculomotor palsy' 'Supranuclear oculomotor palsy' SubClassOf 'Oculomotor palsy' http://www.orpha.net/ORDO/Orphanet_98686 Congenital trochlear nerve palsy 'Congenital trochlear nerve palsy' SubClassOf 'fourth cranial nerve palsy' 'Congenital trochlear nerve palsy' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0001641 severe pre-eclampsia 'severe pre-eclampsia' SubClassOf 'preeclampsia' 'severe pre-eclampsia' SubClassOf 'preeclampsia' http://www.orpha.net/ORDO/Orphanet_84064 Syndromic diarrhea 'Syndromic diarrhea' SubClassOf 'Genetic intractable diarrhea of infancy' 'Syndromic diarrhea' SubClassOf 'type 1 interferonopathy' 'Syndromic diarrhea' SubClassOf 'hereditary disorder of connective tissue' 'Syndromic diarrhea' SubClassOf 'Genetic parenchymatous liver disease' 'Syndromic diarrhea' SubClassOf 'Primary immunodeficiency due to a defect in innate immunity' 'Syndromic diarrhea' SubClassOf 'Genetic intractable diarrhea of infancy' 'Syndromic diarrhea' SubClassOf 'Genetic parenchymatous liver disease' http://purl.obolibrary.org/obo/MONDO_0013626 psoriasis 14, pustular 'psoriasis 14, pustular' SubClassOf 'Primary immunodeficiency due to a defect in innate immunity' 'psoriasis 14, pustular' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015135 http://www.orpha.net/ORDO/Orphanet_98694 Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly 'Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly' SubClassOf 'Nervous system anomaly with eye involvement' 'Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015368 http://www.orpha.net/ORDO/Orphanet_98693 Spinocerebellar ataxia with oculomotor anomaly 'Spinocerebellar ataxia with oculomotor anomaly' SubClassOf 'Nervous system anomaly with eye involvement' 'Spinocerebellar ataxia with oculomotor anomaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015368 http://www.orpha.net/ORDO/Orphanet_98699 Syndromic ichthyosis associated with ocular features 'Syndromic ichthyosis associated with ocular features' SubClassOf 'Genetic keratinization disorder associated with ocular features' 'Syndromic ichthyosis associated with ocular features' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98692 Nervous system anomaly with eye involvement 'Nervous system anomaly with eye involvement' SubClassOf 'Genetic neuro-ophthalmological disease' 'Nervous system anomaly with eye involvement' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98691 Abnormal eye movements 'Abnormal eye movements' SubClassOf 'Genetic neuro-ophthalmological disease' 'Abnormal eye movements' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_262833 Partial duplication of the long arm of chromosome 1 'Partial duplication of the long arm of chromosome 1' SubClassOf 'Partial duplication of chromosome 1' 'Partial duplication of the long arm of chromosome 1' SubClassOf 'Partial duplication of chromosome 1' http://www.orpha.net/ORDO/Orphanet_262842 Partial duplication of the long arm of chromosome 2 'Partial duplication of the long arm of chromosome 2' SubClassOf 'Partial duplication of chromosome 2' 'Partial duplication of the long arm of chromosome 2' SubClassOf 'Partial duplication of chromosome 2' http://www.orpha.net/ORDO/Orphanet_211240 Genetic vascular anomaly 'Genetic vascular anomaly' SubClassOf 'disorder of development or morphogenesis' 'Genetic vascular anomaly' EquivalentTo 'vascular anomaly' and ('has modifier' some 'inherited') 'Genetic vascular anomaly' SubClassOf 'vascular anomaly' 'Genetic vascular anomaly' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0001672 bronchus cancer 'bronchus cancer' SubClassOf 'thoracic cancer' http://www.orpha.net/ORDO/Orphanet_262812 Partial trisomy/tetrasomy of the short arm of chromosome 18 'Partial trisomy/tetrasomy of the short arm of chromosome 18' SubClassOf 'Partial trisomy/tetrasomy of chromosome 18' 'Partial trisomy/tetrasomy of the short arm of chromosome 18' SubClassOf 'Partial trisomy/tetrasomy of chromosome 18' http://www.orpha.net/ORDO/Orphanet_262803 Partial duplication of the short arm of chromosome 17 'Partial duplication of the short arm of chromosome 17' SubClassOf 'Partial duplication of chromosome 17' 'Partial duplication of the short arm of chromosome 17' SubClassOf 'Partial duplication of chromosome 17' http://www.orpha.net/ORDO/Orphanet_308684 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form 'Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form' SubClassOf 'Glycogen storage disease due to glycogen branching enzyme deficiency' 'Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form' SubClassOf 'Glycogen storage disease due to glycogen branching enzyme deficiency' http://www.orpha.net/ORDO/Orphanet_262878 Partial duplication of the long arm of chromosome 6 'Partial duplication of the long arm of chromosome 6' SubClassOf 'Partial duplication of chromosome 6' 'Partial duplication of the long arm of chromosome 6' SubClassOf 'Partial duplication of chromosome 6' http://purl.obolibrary.org/obo/MONDO_0011014 pleuropulmonary blastoma 'pleuropulmonary blastoma' SubClassOf 'pulmonary blastoma' 'pleuropulmonary blastoma' SubClassOf 'pulmonary blastoma' http://www.orpha.net/ORDO/Orphanet_262869 Partial trisomy of the long arm of chromosome 5 'Partial trisomy of the long arm of chromosome 5' SubClassOf 'Partial trisomy/tetrasomy of chromosome 5' 'Partial trisomy of the long arm of chromosome 5' SubClassOf 'Partial trisomy/tetrasomy of chromosome 5' http://www.orpha.net/ORDO/Orphanet_96097 Distal trisomy 5q 'Distal trisomy 5q' SubClassOf 'Partial trisomy of the long arm of chromosome 5' 'Distal trisomy 5q' SubClassOf 'Partial trisomy of the long arm of chromosome 5' http://www.orpha.net/ORDO/Orphanet_96098 Distal trisomy 6q 'Distal trisomy 6q' SubClassOf 'Partial duplication of the long arm of chromosome 6' 'Distal trisomy 6q' SubClassOf 'Partial duplication of the long arm of chromosome 6' http://purl.obolibrary.org/obo/MONDO_0011024 dermatitis herpetiformis, familial 'dermatitis herpetiformis, familial' SubClassOf 'dermatitis herpetiformis' 'dermatitis herpetiformis, familial' SubClassOf 'dermatitis herpetiformis' http://purl.obolibrary.org/obo/MONDO_0011026 autosomal recessive congenital ichthyosis 4A 'autosomal recessive congenital ichthyosis 4A' SubClassOf 'Autosomal recessive congenital ichthyosis' 'autosomal recessive congenital ichthyosis 4A' SubClassOf 'Lamellar ichthyosis' 'autosomal recessive congenital ichthyosis 4A' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017778 'autosomal recessive congenital ichthyosis 4A' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017265 http://www.orpha.net/ORDO/Orphanet_308698 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form 'Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form' SubClassOf 'Glycogen storage disease due to glycogen branching enzyme deficiency' 'Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form' SubClassOf 'Glycogen storage disease due to glycogen branching enzyme deficiency' http://www.orpha.net/ORDO/Orphanet_96092 8p inverted duplication/deletion syndrome '8p inverted duplication/deletion syndrome' SubClassOf 'Complex chromosomal rearrangement' '8p inverted duplication/deletion syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96094 Distal trisomy 2q 'Distal trisomy 2q' SubClassOf 'Partial duplication of the long arm of chromosome 2' 'Distal trisomy 2q' SubClassOf 'Partial duplication of the long arm of chromosome 2' http://www.orpha.net/ORDO/Orphanet_96095 3q26 microduplication syndrome '3q26 microduplication syndrome' SubClassOf 'Partial duplication of the long arm of chromosome 3' '3q26 microduplication syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96096 Distal trisomy 4q 'Distal trisomy 4q' SubClassOf 'Partial duplication of the long arm of chromosome 4' 'Distal trisomy 4q' SubClassOf 'Partial duplication of the long arm of chromosome 4' http://www.orpha.net/ORDO/Orphanet_262860 Partial duplication of the long arm of chromosome 4 'Partial duplication of the long arm of chromosome 4' SubClassOf 'Partial duplication of chromosome 4' 'Partial duplication of the long arm of chromosome 4' SubClassOf 'Partial duplication of chromosome 4' http://www.orpha.net/ORDO/Orphanet_308670 Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form 'Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form' SubClassOf 'has modifier' some 'congenital' 'Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form' SubClassOf 'Glycogen storage disease due to glycogen branching enzyme deficiency' 'Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form' SubClassOf 'Glycogen storage disease due to glycogen branching enzyme deficiency' http://www.orpha.net/ORDO/Orphanet_262851 Partial duplication of the long arm of chromosome 3 'Partial duplication of the long arm of chromosome 3' SubClassOf 'Partial duplication of chromosome 3' 'Partial duplication of the long arm of chromosome 3' SubClassOf 'Partial duplication of chromosome 3' http://purl.obolibrary.org/obo/MONDO_0013477 hypertrophic cardiomyopathy 20 'hypertrophic cardiomyopathy 20' SubClassOf 'familial hypertrophic cardiomyopathy' 'hypertrophic cardiomyopathy 20' SubClassOf 'familial hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0013474 hypertrophic cardiomyopathy 17 'hypertrophic cardiomyopathy 17' SubClassOf 'familial hypertrophic cardiomyopathy' 'hypertrophic cardiomyopathy 17' SubClassOf 'familial hypertrophic cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_247604 Juvenile primary lateral sclerosis 'Juvenile primary lateral sclerosis' SubClassOf 'Primary lateral sclerosis' 'Juvenile primary lateral sclerosis' SubClassOf 'Genetic motor neuron disease' http://www.orpha.net/ORDO/Orphanet_402364 Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly 'Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly' SubClassOf 'central nervous system disease' http://purl.obolibrary.org/obo/MONDO_0013499 Fanconi anemia complementation group P 'Fanconi anemia complementation group P' SubClassOf 'Fanconi anemia' 'Fanconi anemia complementation group P' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019391 http://www.orpha.net/ORDO/Orphanet_221016 Rothmund-Thomson syndrome type 2 'Rothmund-Thomson syndrome type 2' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Rothmund-Thomson syndrome type 2' SubClassOf 'Disease with potential neoplastic degeneration associated with ocular features' 'Rothmund-Thomson syndrome type 2' SubClassOf 'Rothmund-Thomson syndrome' 'Rothmund-Thomson syndrome type 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_221008 Rothmund-Thomson syndrome type 1 'Rothmund-Thomson syndrome type 1' SubClassOf 'Rothmund-Thomson syndrome' 'Rothmund-Thomson syndrome type 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_247651 Infantile hypophosphatasia 'Infantile hypophosphatasia' SubClassOf 'Hypophosphatasia' 'Infantile hypophosphatasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_221039 Hereditary sclerosing poikiloderma, Weary type 'Hereditary sclerosing poikiloderma, Weary type' SubClassOf 'Hereditary poikiloderma' 'Hereditary sclerosing poikiloderma, Weary type' SubClassOf 'Hereditary poikiloderma' http://www.orpha.net/ORDO/Orphanet_247638 Prenatal benign hypophosphatasia 'Prenatal benign hypophosphatasia' SubClassOf 'Hypophosphatasia' 'Prenatal benign hypophosphatasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_101150 Autosomal recessive dopa-responsive dystonia 'Autosomal recessive dopa-responsive dystonia' SubClassOf 'Disorder of pterin metabolism' 'Autosomal recessive dopa-responsive dystonia' SubClassOf 'Dopa-responsive dystonia' 'Autosomal recessive dopa-responsive dystonia' SubClassOf 'Disorder of tyrosine metabolism' 'Autosomal recessive dopa-responsive dystonia' SubClassOf 'tyrosine hydroxylase deficiency' 'Autosomal recessive dopa-responsive dystonia' SubClassOf 'autosomal recessive disease' 'Autosomal recessive dopa-responsive dystonia' SubClassOf 'Cerebral organic aciduria' 'Autosomal recessive dopa-responsive dystonia' SubClassOf 'Disorder of pterin metabolism' 'Autosomal recessive dopa-responsive dystonia' SubClassOf 'Disorder of tyrosine metabolism' 'Autosomal recessive dopa-responsive dystonia' SubClassOf 'Dopa-responsive dystonia' http://www.orpha.net/ORDO/Orphanet_306507 LAMB2-related infantile-onset nephrotic syndrome 'LAMB2-related infantile-onset nephrotic syndrome' SubClassOf 'Congenital and infantile nephrotic syndrome' 'LAMB2-related infantile-onset nephrotic syndrome' SubClassOf 'familial nephrotic syndrome' 'LAMB2-related infantile-onset nephrotic syndrome' SubClassOf 'Primary glomerular disease' 'LAMB2-related infantile-onset nephrotic syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_306504 Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome 'Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome' SubClassOf 'has modifier' some 'congenital' 'Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome' SubClassOf 'Basement membrane disease' 'Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome' SubClassOf 'primary interstitial lung disease specific to childhood' 'Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome' SubClassOf 'Junctional epidermolysis bullosa' 'Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome' SubClassOf 'Basement membrane disease' 'Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome' SubClassOf 'Junctional epidermolysis bullosa' http://www.orpha.net/ORDO/Orphanet_306519 Familial primary hypomagnesemia with hypocalcuria 'Familial primary hypomagnesemia with hypocalcuria' SubClassOf 'Familial primary hypomagnesemia' 'Familial primary hypomagnesemia with hypocalcuria' SubClassOf 'Familial primary hypomagnesemia' http://www.orpha.net/ORDO/Orphanet_306516 Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis' SubClassOf 'Familial primary hypomagnesemia' 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis' SubClassOf 'Familial primary hypomagnesemia' http://www.orpha.net/ORDO/Orphanet_306511 Autosomal recessive spastic paraplegia type 48 'Autosomal recessive spastic paraplegia type 48' SubClassOf 'Neurometabolic disease' 'Autosomal recessive spastic paraplegia type 48' SubClassOf 'Lysosomal disease' 'Autosomal recessive spastic paraplegia type 48' SubClassOf 'Pure or complex autosomal recessive spastic paraplegia' 'Autosomal recessive spastic paraplegia type 48' SubClassOf 'Pure or complex autosomal recessive spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_164736 Familial advanced sleep-phase syndrome 'Familial advanced sleep-phase syndrome' SubClassOf 'Rare genetic neurological disorder' 'Familial advanced sleep-phase syndrome' SubClassOf 'circadian rhythm sleep disorder' 'Familial advanced sleep-phase syndrome' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_64755 Becker nevus syndrome 'Becker nevus syndrome' SubClassOf 'female reproductive system neoplasm' 'Becker nevus syndrome' SubClassOf 'Genetic skin tumor' 'Becker nevus syndrome' SubClassOf 'breast benign neoplasm' 'Becker nevus syndrome' SubClassOf 'deficient breast volume or number' 'Becker nevus syndrome' SubClassOf 'developmental defect during embryogenesis' 'Becker nevus syndrome' SubClassOf 'melanocytic nevus' 'Becker nevus syndrome' SubClassOf 'benign reproductive system neoplasm' 'Becker nevus syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_64739 Ovarian hyperstimulation syndrome 'Ovarian hyperstimulation syndrome' SubClassOf 'has modifier' some 'rare' 'Ovarian hyperstimulation syndrome' SubClassOf 'Rare genetic gynecological and obstetrical diseases' 'Ovarian hyperstimulation syndrome' SubClassOf 'ovarian disease' 'Ovarian hyperstimulation syndrome' SubClassOf 'ovarian disease' http://www.orpha.net/ORDO/Orphanet_64734 Iridocorneal endothelial syndrome 'Iridocorneal endothelial syndrome' SubClassOf 'Syndromic corneal dystrophy' 'Iridocorneal endothelial syndrome' SubClassOf 'disease has feature' some 'glaucoma' http://www.orpha.net/ORDO/Orphanet_64752 Hereditary sensory and autonomic neuropathy type 5 'Hereditary sensory and autonomic neuropathy type 5' SubClassOf 'Autosomal recessive hereditary sensory and autonomic neuropathy' 'Hereditary sensory and autonomic neuropathy type 5' SubClassOf 'Autosomal recessive hereditary sensory and autonomic neuropathy' http://www.orpha.net/ORDO/Orphanet_64751 Hereditary motor and sensory neuropathy type 5 'Hereditary motor and sensory neuropathy type 5' SubClassOf 'Autosomal dominant hereditary axonal motor and sensory neuropathy' 'Hereditary motor and sensory neuropathy type 5' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_64754 Nevus comedonicus syndrome 'Nevus comedonicus syndrome' SubClassOf 'melanocytic nevus' 'Nevus comedonicus syndrome' SubClassOf 'Genetic skin tumor' 'Nevus comedonicus syndrome' SubClassOf 'melanocytic nevus' 'Nevus comedonicus syndrome' SubClassOf 'Genetic skin tumor' 'Nevus comedonicus syndrome' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_64753 Spinocerebellar ataxia with axonal neuropathy type 2 'Spinocerebellar ataxia with axonal neuropathy type 2' SubClassOf 'Genetic peripheral neuropathy' 'Spinocerebellar ataxia with axonal neuropathy type 2' SubClassOf 'spinocerebellar ataxia, autosomal recessive, with axonal neuropathy' 'Spinocerebellar ataxia with axonal neuropathy type 2' SubClassOf 'Genetic peripheral neuropathy' http://www.orpha.net/ORDO/Orphanet_64749 Charcot-Marie-Tooth disease type 4 'Charcot-Marie-Tooth disease type 4' SubClassOf 'Autosomal recessive hereditary demyelinating motor and sensory neuropathy' 'Charcot-Marie-Tooth disease type 4' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_64748 Dejerine-Sottas syndrome 'Dejerine-Sottas syndrome' SubClassOf 'Charcot-Marie-Tooth disease' http://www.orpha.net/ORDO/Orphanet_64747 X-linked Charcot-Marie-Tooth disease 'X-linked Charcot-Marie-Tooth disease' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked Charcot-Marie-Tooth disease' SubClassOf 'Charcot-Marie-Tooth disease' 'X-linked Charcot-Marie-Tooth disease' SubClassOf 'Syndromic genetic deafness' 'X-linked Charcot-Marie-Tooth disease' SubClassOf 'X-linked deafness' 'X-linked Charcot-Marie-Tooth disease' SubClassOf 'Hereditary motor and sensory neuropathy' 'X-linked Charcot-Marie-Tooth disease' SubClassOf 'Syndromic genetic deafness' 'X-linked Charcot-Marie-Tooth disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015626 'X-linked Charcot-Marie-Tooth disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020119 http://www.orpha.net/ORDO/Orphanet_64746 Autosomal dominant Charcot-Marie-Tooth disease type 2 'Autosomal dominant Charcot-Marie-Tooth disease type 2' SubClassOf 'Autosomal dominant hereditary axonal motor and sensory neuropathy' 'Autosomal dominant Charcot-Marie-Tooth disease type 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_306588 Autosomal dominant Opitz G/BBB syndrome 'Autosomal dominant Opitz G/BBB syndrome' SubClassOf 'autosomal dominant disease' 'Autosomal dominant Opitz G/BBB syndrome' SubClassOf 'Opitz G/BBB syndrome' 'Autosomal dominant Opitz G/BBB syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017138 http://www.orpha.net/ORDO/Orphanet_306597 X-linked Opitz G/BBB syndrome 'X-linked Opitz G/BBB syndrome' SubClassOf 'Opitz G/BBB syndrome' 'X-linked Opitz G/BBB syndrome' SubClassOf 'X-linked disease' 'X-linked Opitz G/BBB syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98127 Autosomal anomaly 'Autosomal anomaly' SubClassOf 'Chromosomal anomaly' 'Autosomal anomaly' SubClassOf 'Chromosomal anomaly' http://www.orpha.net/ORDO/Orphanet_98132 Partial autosomal trisomy/tetrasomy 'Partial autosomal trisomy/tetrasomy' SubClassOf 'Autosomal trisomy' 'Partial autosomal trisomy/tetrasomy' SubClassOf 'Autosomal trisomy' http://www.orpha.net/ORDO/Orphanet_306577 Sodium channelopathy-related small fiber neuropathy 'Sodium channelopathy-related small fiber neuropathy' SubClassOf 'autosomal dominant disease' 'Sodium channelopathy-related small fiber neuropathy' SubClassOf 'channelopathy' 'Sodium channelopathy-related small fiber neuropathy' SubClassOf 'Genetic peripheral neuropathy' 'Sodium channelopathy-related small fiber neuropathy' SubClassOf 'Genetic peripheral neuropathy' http://www.orpha.net/ORDO/Orphanet_98131 Total autosomal trisomy 'Total autosomal trisomy' SubClassOf 'Autosomal trisomy' 'Total autosomal trisomy' SubClassOf 'Autosomal trisomy' http://www.orpha.net/ORDO/Orphanet_98130 Autosomal trisomy 'Autosomal trisomy' SubClassOf 'Autosomal anomaly' 'Autosomal trisomy' SubClassOf 'Autosomal anomaly' http://www.orpha.net/ORDO/Orphanet_306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome 'Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome' SubClassOf 'Orofacial clefting syndrome' 'Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome' SubClassOf 'Frontonasal dysplasia' 'Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome' SubClassOf 'Orofacial clefting syndrome' 'Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome' SubClassOf 'Frontonasal dysplasia' 'Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome' SubClassOf 'Genetic branchial arch or oral-acral syndrome' http://www.orpha.net/ORDO/Orphanet_306547 Porencephaly-microcephaly-bilateral congenital cataract syndrome 'Porencephaly-microcephaly-bilateral congenital cataract syndrome' SubClassOf 'Rare genetic neurological disorder' 'Porencephaly-microcephaly-bilateral congenital cataract syndrome' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0001502 retroperitoneum carcinoma 'retroperitoneum carcinoma' SubClassOf 'carcinoma' 'retroperitoneum carcinoma' SubClassOf 'retroperitoneal cancer' 'retroperitoneum carcinoma' SubClassOf 'carcinoma' 'retroperitoneum carcinoma' SubClassOf 'retroperitoneal cancer' http://www.orpha.net/ORDO/Orphanet_306550 FADD-related immunodeficiency 'FADD-related immunodeficiency' SubClassOf 'Immunodeficiency syndrome with autoimmunity' 'FADD-related immunodeficiency' SubClassOf 'immunodeficiency disease' 'FADD-related immunodeficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_306558 Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome 'Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome' SubClassOf 'Rare genetic diabetes mellitus' 'Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome' SubClassOf 'Cerebral malformation with epilepsy' 'Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome' SubClassOf 'Syndrome with microcephaly as major feature' 'Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_306527 Isolated hereditary congenital facial paralysis 'Isolated hereditary congenital facial paralysis' SubClassOf 'Paralytic facial malformation' 'Isolated hereditary congenital facial paralysis' SubClassOf 'congenital nervous system disorder' 'Isolated hereditary congenital facial paralysis' SubClassOf 'Cranial nerve and nuclear aplasia' 'Isolated hereditary congenital facial paralysis' SubClassOf 'Paralytic facial malformation' 'Isolated hereditary congenital facial paralysis' SubClassOf 'Cranial nerve and nuclear aplasia' http://www.orpha.net/ORDO/Orphanet_306522 Familial primary hypomagnesemia with normocalcuria 'Familial primary hypomagnesemia with normocalcuria' SubClassOf 'Familial primary hypomagnesemia' 'Familial primary hypomagnesemia with normocalcuria' SubClassOf 'Familial primary hypomagnesemia' http://www.orpha.net/ORDO/Orphanet_306539 Hereditary acrokeratotic poikiloderma of Kindler-Weary 'Hereditary acrokeratotic poikiloderma of Kindler-Weary' SubClassOf 'Genetic photodermatosis' 'Hereditary acrokeratotic poikiloderma of Kindler-Weary' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0013500 immunodeficiency 51 'immunodeficiency 51' SubClassOf 'Chronic mucocutaneous candidosis' 'immunodeficiency 51' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015279 http://www.orpha.net/ORDO/Orphanet_306530 Congenital hereditary facial paralysis with variable hearing loss 'Congenital hereditary facial paralysis with variable hearing loss' SubClassOf 'Cranial nerve and nuclear aplasia' 'Congenital hereditary facial paralysis with variable hearing loss' SubClassOf 'Paralytic facial malformation' 'Congenital hereditary facial paralysis with variable hearing loss' SubClassOf 'Cranial nerve and nuclear aplasia' 'Congenital hereditary facial paralysis with variable hearing loss' SubClassOf 'Paralytic facial malformation' http://purl.obolibrary.org/obo/MONDO_0001530 secondary hyperparathyroidism of renal origin 'secondary hyperparathyroidism of renal origin' SubClassOf 'impaired renal function disease' 'secondary hyperparathyroidism of renal origin' SubClassOf 'secondary hyperparathyroidism' 'secondary hyperparathyroidism of renal origin' SubClassOf 'impaired renal function disease' 'secondary hyperparathyroidism of renal origin' SubClassOf 'secondary hyperparathyroidism' http://purl.obolibrary.org/obo/MONDO_0013517 beta-thalassemia HBB/LCRB 'beta-thalassemia HBB/LCRB' SubClassOf 'Beta-thalassemia' 'beta-thalassemia HBB/LCRB' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019402 http://purl.obolibrary.org/obo/MONDO_0001549 hemolytic-uremic syndrome 'hemolytic-uremic syndrome' SubClassOf 'Genetic thrombotic microangiopathy' 'hemolytic-uremic syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021181 'hemolytic-uremic syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019737 http://www.orpha.net/ORDO/Orphanet_247573 Adult-onset citrullinemia type I 'Adult-onset citrullinemia type I' SubClassOf 'Citrullinemia type I' 'Adult-onset citrullinemia type I' SubClassOf 'Citrullinemia type I' http://purl.obolibrary.org/obo/MONDO_0001557 olecranon bursitis 'olecranon bursitis' SubClassOf 'limb disorder' http://purl.obolibrary.org/obo/MONDO_0013536 heme oxygenase 1 deficiency 'heme oxygenase 1 deficiency' SubClassOf 'Disorder of porphyrin and haem metabolism' 'heme oxygenase 1 deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017754 http://www.orpha.net/ORDO/Orphanet_247546 Acute neonatal citrullinemia type I 'Acute neonatal citrullinemia type I' SubClassOf 'acute disease' 'Acute neonatal citrullinemia type I' SubClassOf 'Citrullinemia type I' 'Acute neonatal citrullinemia type I' SubClassOf 'Citrullinemia type I' http://purl.obolibrary.org/obo/MONDO_0001558 Potter sequence 'Potter sequence' DisjointWith 'Bilateral renal agenesis' 'Potter sequence' SubClassOf 'syndromic disease' 'Potter sequence' DisjointWith http://purl.obolibrary.org/obo/MONDO_0015986 'Potter sequence' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0013551 hereditary spastic paraplegia 47 'hereditary spastic paraplegia 47' SubClassOf 'Severe intellectual disability and progressive spastic paraplegia' 'hereditary spastic paraplegia 47' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017241 http://purl.obolibrary.org/obo/MONDO_0013552 hereditary spastic paraplegia 52 'hereditary spastic paraplegia 52' SubClassOf 'Severe intellectual disability and progressive spastic paraplegia' 'hereditary spastic paraplegia 52' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017241 http://purl.obolibrary.org/obo/MONDO_0013555 Hermansky-Pudlak syndrome 3 'Hermansky-Pudlak syndrome 3' SubClassOf 'Hermansky-Pudlak syndrome without pulmonary fibrosis' 'Hermansky-Pudlak syndrome 3' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016502 http://www.orpha.net/ORDO/Orphanet_98142 Partial autosomal monosomy 'Partial autosomal monosomy' SubClassOf 'Autosomal monosomy' 'Partial autosomal monosomy' SubClassOf 'Autosomal monosomy' http://www.orpha.net/ORDO/Orphanet_98141 Total autosomal monosomy 'Total autosomal monosomy' SubClassOf 'Autosomal monosomy' 'Total autosomal monosomy' SubClassOf 'Autosomal monosomy' http://www.orpha.net/ORDO/Orphanet_98155 Gonosome anomaly 'Gonosome anomaly' SubClassOf 'Chromosomal anomaly' 'Gonosome anomaly' SubClassOf 'Chromosomal anomaly' http://www.orpha.net/ORDO/Orphanet_98154 Uniparental disomy of paternal origin 'Uniparental disomy of paternal origin' SubClassOf 'Autosomal uniparental disomy' 'Uniparental disomy of paternal origin' SubClassOf 'Autosomal uniparental disomy' http://purl.obolibrary.org/obo/MONDO_0013562 aspergillosis, susceptibility to 'aspergillosis, susceptibility to' SubClassOf 'Genetic susceptibility to infections due to particular pathogens' 'aspergillosis, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015979 http://www.orpha.net/ORDO/Orphanet_98157 Gonosome structural anomaly 'Gonosome structural anomaly' SubClassOf 'Gonosome anomaly' 'Gonosome structural anomaly' SubClassOf 'Gonosome anomaly' http://www.orpha.net/ORDO/Orphanet_98156 Gonosome number anomaly 'Gonosome number anomaly' SubClassOf 'Gonosome anomaly' 'Gonosome number anomaly' SubClassOf 'Gonosome anomaly' http://www.orpha.net/ORDO/Orphanet_98159 Chromosome X structural anomaly 'Chromosome X structural anomaly' SubClassOf 'Gonosome structural anomaly' 'Chromosome X structural anomaly' SubClassOf 'Gonosome structural anomaly' http://www.orpha.net/ORDO/Orphanet_98158 Chromosome Y structural anomaly 'Chromosome Y structural anomaly' SubClassOf 'Gonosome structural anomaly' 'Chromosome Y structural anomaly' SubClassOf 'Gonosome structural anomaly' http://purl.obolibrary.org/obo/MONDO_0013566 Fanconi anemia complementation group L 'Fanconi anemia complementation group L' SubClassOf 'Fanconi anemia' 'Fanconi anemia complementation group L' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019391 http://www.orpha.net/ORDO/Orphanet_98153 Uniparental disomy of maternal origin 'Uniparental disomy of maternal origin' SubClassOf 'Autosomal uniparental disomy' 'Uniparental disomy of maternal origin' SubClassOf 'Autosomal uniparental disomy' http://www.orpha.net/ORDO/Orphanet_98152 Autosomal uniparental disomy 'Autosomal uniparental disomy' SubClassOf 'Autosomal anomaly' 'Autosomal uniparental disomy' SubClassOf 'Autosomal anomaly' http://purl.obolibrary.org/obo/MONDO_0013578 DYRK1A-related intellectual disability syndrome 'DYRK1A-related intellectual disability syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'DYRK1A-related intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043005 'DYRK1A-related intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015159 http://www.orpha.net/ORDO/Orphanet_247585 Citrullinemia type II 'Citrullinemia type II' SubClassOf 'Citrin deficiency' 'Citrullinemia type II' SubClassOf 'Citrin deficiency' http://purl.obolibrary.org/obo/MONDO_0013572 Keppen-Lubinsky syndrome 'Keppen-Lubinsky syndrome' SubClassOf 'Genetic lipodystrophy' 'Keppen-Lubinsky syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020087 http://www.orpha.net/ORDO/Orphanet_247582 Citrin deficiency 'Citrin deficiency' SubClassOf 'Citrullinemia' 'Citrin deficiency' SubClassOf 'Citrullinemia' http://purl.obolibrary.org/obo/MONDO_0013586 Chitotriosidase deficiency 'Chitotriosidase deficiency' SubClassOf 'genetic disorder' 'Chitotriosidase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0013585 hydrolethalus syndrome 2 'hydrolethalus syndrome 2' SubClassOf 'Hydrolethalus' 'hydrolethalus syndrome 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0006037 http://www.orpha.net/ORDO/Orphanet_247598 Neonatal intrahepatic cholestasis due to citrin deficiency 'Neonatal intrahepatic cholestasis due to citrin deficiency' SubClassOf 'Citrin deficiency' 'Neonatal intrahepatic cholestasis due to citrin deficiency' SubClassOf 'Citrin deficiency' http://www.orpha.net/ORDO/Orphanet_101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness 'Autosomal recessive Charcot-Marie-Tooth disease with hoarseness' SubClassOf 'Autosomal recessive axonal Charcot-Marie-Tooth disease type 2' 'Autosomal recessive Charcot-Marie-Tooth disease with hoarseness' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'Autosomal recessive Charcot-Marie-Tooth disease with hoarseness' SubClassOf 'autosomal recessive axonal hereditary motor and sensory neuropathy' 'Autosomal recessive Charcot-Marie-Tooth disease with hoarseness' SubClassOf 'Autosomal recessive axonal neuropathy with neuromyotonia' http://www.orpha.net/ORDO/Orphanet_101092 Hyper-IgM syndrome type 5 'Hyper-IgM syndrome type 5' SubClassOf 'Hyper-IgM syndrome without susceptibility to opportunistic infections' 'Hyper-IgM syndrome type 5' SubClassOf 'Hyper-IgM syndrome without susceptibility to opportunistic infections' http://www.orpha.net/ORDO/Orphanet_101090 Hyper-IgM syndrome type 3 'Hyper-IgM syndrome type 3' SubClassOf 'Hyper-IgM syndrome with susceptibility to opportunistic infections' 'Hyper-IgM syndrome type 3' SubClassOf 'Hyper-IgM syndrome with susceptibility to opportunistic infections' http://www.orpha.net/ORDO/Orphanet_101091 Hyper-IgM syndrome type 4 'Hyper-IgM syndrome type 4' SubClassOf 'Hyper-IgM syndrome without susceptibility to opportunistic infections' 'Hyper-IgM syndrome type 4' SubClassOf 'Hyper-IgM syndrome without susceptibility to opportunistic infections' http://purl.obolibrary.org/obo/MONDO_0013372 long QT syndrome 5 'long QT syndrome 5' SubClassOf 'Familial long QT syndrome' 'long QT syndrome 5' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019171 http://purl.obolibrary.org/obo/MONDO_0013389 developmental and epileptic encephalopathy, 12 'developmental and epileptic encephalopathy, 12' SubClassOf 'West syndrome' 'developmental and epileptic encephalopathy, 12' SubClassOf 'Rare syndromic dyslipidemia' 'developmental and epileptic encephalopathy, 12' SubClassOf 'Malignant migrating partial seizures of infancy' 'developmental and epileptic encephalopathy, 12' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018097 'developmental and epileptic encephalopathy, 12' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017385 'developmental and epileptic encephalopathy, 12' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015905 http://www.orpha.net/ORDO/Orphanet_247525 Citrullinemia type I 'Citrullinemia type I' SubClassOf 'Citrullinemia' 'Citrullinemia type I' SubClassOf 'Citrullinemia' http://www.orpha.net/ORDO/Orphanet_247511 Autosomal dominant secondary polycythemia 'Autosomal dominant secondary polycythemia' SubClassOf 'autosomal dominant disease' 'Autosomal dominant secondary polycythemia' SubClassOf 'Congenital secondary polycythemia' 'Autosomal dominant secondary polycythemia' SubClassOf 'Congenital secondary polycythemia' http://www.orpha.net/ORDO/Orphanet_101039 Female restricted epilepsy with intellectual disability 'Female restricted epilepsy with intellectual disability' SubClassOf 'X-linked intellectual disability - epilepsy' 'Female restricted epilepsy with intellectual disability' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_101033 Peters anomaly - cataract 'Peters anomaly - cataract' SubClassOf 'Peters anomaly' 'Peters anomaly - cataract' SubClassOf http://purl.obolibrary.org/obo/MONDO_0011414 http://www.orpha.net/ORDO/Orphanet_101030 Subependymal nodular heterotopia 'Subependymal nodular heterotopia' SubClassOf 'Nodular neuronal heterotopia' 'Subependymal nodular heterotopia' SubClassOf 'Nodular neuronal heterotopia' http://www.orpha.net/ORDO/Orphanet_101049 Familial hypocalciuric hypercalcemia type 2 'Familial hypocalciuric hypercalcemia type 2' SubClassOf 'Familial hypocalciuric hypercalcemia' 'Familial hypocalciuric hypercalcemia type 2' SubClassOf 'Familial hypocalciuric hypercalcemia' http://www.orpha.net/ORDO/Orphanet_101046 Autosomal dominant epilepsy with auditory features 'Autosomal dominant epilepsy with auditory features' SubClassOf 'temporal lobe epilepsy' 'Autosomal dominant epilepsy with auditory features' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_101041 Familial hypofibrinogenemia 'Familial hypofibrinogenemia' SubClassOf 'Familial afibrinogenemia' 'Familial hypofibrinogenemia' SubClassOf 'Congenital fibrinogen deficiency' http://www.orpha.net/ORDO/Orphanet_101010 Autosomal recessive spastic paraplegia type 30 'Autosomal recessive spastic paraplegia type 30' SubClassOf 'Pure or complex autosomal dominant spastic paraplegia' 'Autosomal recessive spastic paraplegia type 30' SubClassOf 'Pure or complex autosomal recessive spastic paraplegia' 'Autosomal recessive spastic paraplegia type 30' SubClassOf 'Pure or complex autosomal recessive spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_101011 Autosomal dominant spastic paraplegia type 31 'Autosomal dominant spastic paraplegia type 31' SubClassOf 'Pure or complex autosomal dominant spastic paraplegia' 'Autosomal dominant spastic paraplegia type 31' SubClassOf 'Pure or complex autosomal dominant spastic paraplegia' http://purl.obolibrary.org/obo/UBERON_2001118 urogenital papilla 'urogenital papilla' SubClassOf 'part_of' some 'integumental system' http://www.orpha.net/ORDO/Orphanet_101029 Sub-cortical nodular heterotopia 'Sub-cortical nodular heterotopia' SubClassOf 'Nodular neuronal heterotopia' 'Sub-cortical nodular heterotopia' SubClassOf 'Nodular neuronal heterotopia' http://www.orpha.net/ORDO/Orphanet_101028 Transaldolase deficiency 'Transaldolase deficiency' SubClassOf 'Disorder of pentose phosphate metabolism' 'Transaldolase deficiency' SubClassOf 'Disorder of pentose phosphate metabolism' http://www.orpha.net/ORDO/Orphanet_101022 Mediterranean macrothrombocytopenia 'Mediterranean macrothrombocytopenia' SubClassOf 'Inherited giant platelet disorder' 'Mediterranean macrothrombocytopenia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_306617 X-linked complicated spastic paraplegia type 1 'X-linked complicated spastic paraplegia type 1' SubClassOf 'L1 syndrome' 'X-linked complicated spastic paraplegia type 1' SubClassOf 'X-linked recessive disease' 'X-linked complicated spastic paraplegia type 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_101078 X-linked Charcot-Marie-Tooth disease type 4 'X-linked Charcot-Marie-Tooth disease type 4' SubClassOf 'X-linked Charcot-Marie-Tooth disease' 'X-linked Charcot-Marie-Tooth disease type 4' SubClassOf 'X-linked Charcot-Marie-Tooth disease' http://www.orpha.net/ORDO/Orphanet_101076 X-linked Charcot-Marie-Tooth disease type 2 'X-linked Charcot-Marie-Tooth disease type 2' SubClassOf 'X-linked Charcot-Marie-Tooth disease' 'X-linked Charcot-Marie-Tooth disease type 2' SubClassOf 'X-linked Charcot-Marie-Tooth disease' http://www.orpha.net/ORDO/Orphanet_101077 X-linked Charcot-Marie-Tooth disease type 3 'X-linked Charcot-Marie-Tooth disease type 3' SubClassOf 'X-linked Charcot-Marie-Tooth disease' 'X-linked Charcot-Marie-Tooth disease type 3' SubClassOf 'X-linked Charcot-Marie-Tooth disease' http://www.orpha.net/ORDO/Orphanet_101075 X-linked Charcot-Marie-Tooth disease type 1 'X-linked Charcot-Marie-Tooth disease type 1' SubClassOf 'X-linked Charcot-Marie-Tooth disease' 'X-linked Charcot-Marie-Tooth disease type 1' SubClassOf 'Hereditary motor and sensory neuropathy' 'X-linked Charcot-Marie-Tooth disease type 1' SubClassOf 'X-linked Charcot-Marie-Tooth disease' http://www.orpha.net/ORDO/Orphanet_101070 Bilateral frontoparietal polymicrogyria 'Bilateral frontoparietal polymicrogyria' SubClassOf 'Bilateral polymicrogyria' 'Bilateral frontoparietal polymicrogyria' SubClassOf 'Bilateral polymicrogyria' http://www.orpha.net/ORDO/Orphanet_101071 Unilateral hemispheric polymicrogyria 'Unilateral hemispheric polymicrogyria' SubClassOf 'Unilateral polymicrogyria' 'Unilateral hemispheric polymicrogyria' SubClassOf 'Unilateral polymicrogyria' http://www.orpha.net/ORDO/Orphanet_101089 Hyper-IgM syndrome type 2 'Hyper-IgM syndrome type 2' SubClassOf 'autosomal recessive disease' 'Hyper-IgM syndrome type 2' SubClassOf 'Hyper-IgM syndrome without susceptibility to opportunistic infections' 'Hyper-IgM syndrome type 2' SubClassOf 'Hyper-IgM syndrome without susceptibility to opportunistic infections' http://www.orpha.net/ORDO/Orphanet_101088 X-linked hyper-IgM syndrome 'X-linked hyper-IgM syndrome' SubClassOf 'Hyper-IgM syndrome with susceptibility to opportunistic infections' 'X-linked hyper-IgM syndrome' SubClassOf 'X-linked disease' 'X-linked hyper-IgM syndrome' SubClassOf 'Hyper-IgM syndrome with susceptibility to opportunistic infections' http://www.orpha.net/ORDO/Orphanet_101085 Charcot-Marie-Tooth disease type 1F 'Charcot-Marie-Tooth disease type 1F' SubClassOf 'Charcot-Marie-Tooth disease type 1' 'Charcot-Marie-Tooth disease type 1F' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_101083 Charcot-Marie-Tooth disease type 1C 'Charcot-Marie-Tooth disease type 1C' SubClassOf 'Charcot-Marie-Tooth disease type 1' 'Charcot-Marie-Tooth disease type 1C' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_101084 Charcot-Marie-Tooth disease type 1D 'Charcot-Marie-Tooth disease type 1D' SubClassOf 'Charcot-Marie-Tooth disease type 1' 'Charcot-Marie-Tooth disease type 1D' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_101081 Charcot-Marie-Tooth disease type 1A 'Charcot-Marie-Tooth disease type 1A' SubClassOf 'Charcot-Marie-Tooth disease type 1' 'Charcot-Marie-Tooth disease type 1A' SubClassOf 'Partial duplication of the short arm of chromosome 17' 'Charcot-Marie-Tooth disease type 1A' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_101082 Charcot-Marie-Tooth disease type 1B 'Charcot-Marie-Tooth disease type 1B' SubClassOf 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type D' 'Charcot-Marie-Tooth disease type 1B' SubClassOf 'Charcot-Marie-Tooth disease type 1' 'Charcot-Marie-Tooth disease type 1B' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf 'autoimmune enteropathy' 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf 'hypersensitivity reaction disease' 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf 'autoimmune polyendocrinopathy' 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf 'Genetic intractable diarrhea of infancy' 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf 'malabsorption syndrome' 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf 'Genetic intractable diarrhea of infancy' http://www.orpha.net/ORDO/Orphanet_101050 Familial hypocalciuric hypercalcemia type 3 'Familial hypocalciuric hypercalcemia type 3' SubClassOf 'Familial hypocalciuric hypercalcemia' 'Familial hypocalciuric hypercalcemia type 3' SubClassOf 'Familial hypocalciuric hypercalcemia' http://www.orpha.net/ORDO/Orphanet_101068 Congenital stromal corneal dystrophy 'Congenital stromal corneal dystrophy' SubClassOf 'has modifier' some 'congenital' 'Congenital stromal corneal dystrophy' SubClassOf 'Stromal corneal dystrophy' 'Congenital stromal corneal dystrophy' SubClassOf 'Stromal corneal dystrophy' http://www.orpha.net/ORDO/Orphanet_101063 Situs inversus totalis 'Situs inversus totalis' SubClassOf 'visceral heterotaxy' 'Situs inversus totalis' SubClassOf 'Genetic cardiac anomaly' 'Situs inversus totalis' SubClassOf 'Genetic cardiac anomaly' http://www.orpha.net/ORDO/Orphanet_64686 Tolosa-Hunt syndrome 'Tolosa-Hunt syndrome' SubClassOf 'ocular motility disease' 'Tolosa-Hunt syndrome' SubClassOf 'Rare strabismus and restriction syndrome' 'Tolosa-Hunt syndrome' SubClassOf 'syndromic disease' 'Tolosa-Hunt syndrome' SubClassOf 'Nuclear oculomotor paralysis' 'Tolosa-Hunt syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_88642 Channelopathy-associated congenital insensitivity to pain 'Channelopathy-associated congenital insensitivity to pain' SubClassOf 'Autosomal recessive hereditary sensory and autonomic neuropathy' 'Channelopathy-associated congenital insensitivity to pain' SubClassOf 'congenital nervous system disorder' 'Channelopathy-associated congenital insensitivity to pain' SubClassOf 'Autosomal recessive hereditary sensory and autonomic neuropathy' http://www.orpha.net/ORDO/Orphanet_88644 Autosomal recessive ataxia, Beauce type 'Autosomal recessive ataxia, Beauce type' SubClassOf 'Autosomal recessive cerebellar ataxia' 'Autosomal recessive ataxia, Beauce type' SubClassOf 'Autosomal recessive cerebellar ataxia' http://www.orpha.net/ORDO/Orphanet_88643 Obesity - colitis - hypothyroidism - cardiac hypertrophy - developmental delay 'Obesity - colitis - hypothyroidism - cardiac hypertrophy - developmental delay' SubClassOf 'Syndromic hypothyroidism' 'Obesity - colitis - hypothyroidism - cardiac hypertrophy - developmental delay' SubClassOf 'Syndromic hypothyroidism' http://www.orpha.net/ORDO/Orphanet_88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency 'Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency' SubClassOf 'Cerebral organic aciduria' 'Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency' SubClassOf 'valine metabolism disease' 'Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency' SubClassOf 'Classic organic aciduria' 'Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency' SubClassOf 'inherited amino acid metabolic disorder' 'Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency' SubClassOf 'Neurometabolic disease' 'Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency' SubClassOf 'Classic organic aciduria' 'Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency' SubClassOf 'Neurometabolic disease' http://www.orpha.net/ORDO/Orphanet_88637 Hypomyelination - hypogonadotropic hypogonadism - hypodontia 'Hypomyelination - hypogonadotropic hypogonadism - hypodontia' SubClassOf 'Congenital hypogonadotropic hypogonadism' http://www.orpha.net/ORDO/Orphanet_88630 Terminal osseous dysplasia - pigmentary defects 'Terminal osseous dysplasia - pigmentary defects' SubClassOf 'Acromelic dysplasia' 'Terminal osseous dysplasia - pigmentary defects' SubClassOf 'Genetic hyperpigmentation of the skin' 'Terminal osseous dysplasia - pigmentary defects' SubClassOf 'Filamin-related bone disorder' 'Terminal osseous dysplasia - pigmentary defects' SubClassOf 'Acromelic dysplasia' 'Terminal osseous dysplasia - pigmentary defects' SubClassOf 'Genetic hyperpigmentation of the skin' 'Terminal osseous dysplasia - pigmentary defects' SubClassOf 'Filamin-related bone disorder' http://www.orpha.net/ORDO/Orphanet_88635 Myopathy due to calsequestrin and SERCA1 protein overload 'Myopathy due to calsequestrin and SERCA1 protein overload' SubClassOf 'Qualitative or quantitative defects of protein SERCA1' 'Myopathy due to calsequestrin and SERCA1 protein overload' SubClassOf 'Genetic skeletal muscle disease' 'Myopathy due to calsequestrin and SERCA1 protein overload' SubClassOf 'Qualitative or quantitative defects of protein SERCA1' 'Myopathy due to calsequestrin and SERCA1 protein overload' SubClassOf 'Genetic skeletal muscle disease' http://www.orpha.net/ORDO/Orphanet_88632 Familial ocular anterior segment mesenchymal dysgenesis 'Familial ocular anterior segment mesenchymal dysgenesis' SubClassOf 'Rare eye disease due to a differentiation anomaly' 'Familial ocular anterior segment mesenchymal dysgenesis' SubClassOf 'Genetic developmental defect of the eye' 'Familial ocular anterior segment mesenchymal dysgenesis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020145 http://www.orpha.net/ORDO/Orphanet_88628 Posterior column ataxia - retinitis pigmentosa 'Posterior column ataxia - retinitis pigmentosa' SubClassOf 'FLVCR1-related retinopathy with or without ataxia' 'Posterior column ataxia - retinitis pigmentosa' SubClassOf 'Autosomal recessive degenerative and progressive cerebellar ataxia' http://www.orpha.net/ORDO/Orphanet_88629 Tritanopia 'Tritanopia' SubClassOf 'Color-vision disease' 'Tritanopia' SubClassOf 'Color-vision disease' http://www.orpha.net/ORDO/Orphanet_88621 Ichthyosis prematurity syndrome 'Ichthyosis prematurity syndrome' SubClassOf 'pneumonitis' http://www.orpha.net/ORDO/Orphanet_49042 Dentinogenesis imperfecta 'Dentinogenesis imperfecta' SubClassOf 'Hereditary dentin defect' 'Dentinogenesis imperfecta' SubClassOf 'Hereditary dentin defect' http://www.orpha.net/ORDO/Orphanet_88616 Autosomal recessive non-syndromic intellectual disability 'Autosomal recessive non-syndromic intellectual disability' SubClassOf 'non-syndromic intellectual disability' 'Autosomal recessive non-syndromic intellectual disability' SubClassOf 'autosomal recessive disease' http://www.orpha.net/ORDO/Orphanet_88619 Familial acute necrotizing encephalopathy 'Familial acute necrotizing encephalopathy' SubClassOf 'encephalopathy, acute, infection-induced' 'Familial acute necrotizing encephalopathy' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_88618 Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency 'Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency' SubClassOf 'Cerebral organic aciduria' 'Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency' SubClassOf 'disorder of methionine catabolism' 'Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency' SubClassOf 'syndromic intellectual disability' 'Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency' SubClassOf 'Disorder of methionine cycle and sulfur amino acid metabolism' http://www.orpha.net/ORDO/Orphanet_284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 'Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency' SubClassOf 'Glycogen storage disease due to lactate dehydrogenase deficiency' 'Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency' SubClassOf 'Muscular glycogenosis' 'Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency' SubClassOf 'Glycogen storage disease due to lactate dehydrogenase deficiency' 'Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency' SubClassOf 'Muscular glycogenosis' http://www.orpha.net/ORDO/Orphanet_306661 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome 'familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome' SubClassOf 'Genetic skin tumor' 'familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome' SubClassOf 'endocrine neoplasm' 'familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome' SubClassOf 'calcinosis' http://www.orpha.net/ORDO/Orphanet_101111 Spinocerebellar ataxia type 25 'Spinocerebellar ataxia type 25' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 25' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' http://www.orpha.net/ORDO/Orphanet_101112 Spinocerebellar ataxia type 26 'Spinocerebellar ataxia type 26' SubClassOf 'Autosomal dominant cerebellar ataxia type 3' 'Spinocerebellar ataxia type 26' SubClassOf 'Autosomal dominant cerebellar ataxia type 3' http://www.orpha.net/ORDO/Orphanet_101110 Spinocerebellar ataxia type 20 'Spinocerebellar ataxia type 20' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 20' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' http://www.orpha.net/ORDO/Orphanet_284435 Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency 'Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency' SubClassOf 'Glycogen storage disease due to lactate dehydrogenase deficiency' 'Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency' SubClassOf 'Glycogen storage disease due to lactate dehydrogenase deficiency' http://www.orpha.net/ORDO/Orphanet_306669 Hemiparkinsonism-hemiatrophy syndrome 'Hemiparkinsonism-hemiatrophy syndrome' SubClassOf 'parkinsonian disorder' http://www.orpha.net/ORDO/Orphanet_306674 Kufor-Rakeb syndrome 'Kufor-Rakeb syndrome' SubClassOf 'Abnormal eye movements' 'Kufor-Rakeb syndrome' SubClassOf 'juvenile-onset Parkinson disease' 'Kufor-Rakeb syndrome' SubClassOf 'Neurodegeneration with brain iron accumulation' 'Kufor-Rakeb syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_101108 Spinocerebellar ataxia type 23 'Spinocerebellar ataxia type 23' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 23' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' http://www.orpha.net/ORDO/Orphanet_101109 Spinocerebellar ataxia type 28 'Spinocerebellar ataxia type 28' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 28' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' http://www.orpha.net/ORDO/Orphanet_88661 Amelogenesis imperfecta 'Amelogenesis imperfecta' SubClassOf 'Dental enamel hypoplasia' http://www.orpha.net/ORDO/Orphanet_101104 Marin-Amat syndrome 'Marin-Amat syndrome' SubClassOf 'Marcus-Gunn syndrome' 'Marin-Amat syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_101102 Charcot-Marie-Tooth disease type 2H 'Charcot-Marie-Tooth disease type 2H' SubClassOf 'autosomal recessive axonal hereditary motor and sensory neuropathy' 'Charcot-Marie-Tooth disease type 2H' SubClassOf 'Autosomal recessive axonal Charcot-Marie-Tooth disease type 2' 'Charcot-Marie-Tooth disease type 2H' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'Charcot-Marie-Tooth disease type 2H' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://www.orpha.net/ORDO/Orphanet_101101 Charcot-Marie-Tooth disease type 2B2 'Charcot-Marie-Tooth disease type 2B2' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'Charcot-Marie-Tooth disease type 2B2' SubClassOf 'autosomal recessive axonal hereditary motor and sensory neuropathy' 'Charcot-Marie-Tooth disease type 2B2' SubClassOf 'Autosomal recessive axonal Charcot-Marie-Tooth disease type 2' 'Charcot-Marie-Tooth disease type 2B2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_88660 Pseudohyperaldosteronism type 2 'Pseudohyperaldosteronism type 2' SubClassOf 'Genetic hypertension' 'Pseudohyperaldosteronism type 2' SubClassOf 'hypertension, pregnancy-induced' 'Pseudohyperaldosteronism type 2' SubClassOf 'Genetic hypertension' http://purl.obolibrary.org/obo/MONDO_0001407 tracheal cancer 'tracheal cancer' SubClassOf 'Tracheal neoplasm' 'tracheal cancer' SubClassOf 'Tracheal neoplasm' http://www.orpha.net/ORDO/Orphanet_88659 Autosomal dominant progressive nephropathy with hypertension 'Autosomal dominant progressive nephropathy with hypertension' SubClassOf 'Genetic hypertension' 'Autosomal dominant progressive nephropathy with hypertension' SubClassOf 'Genetic hypertension' http://www.orpha.net/ORDO/Orphanet_306658 Normocalcemic tumoral calcinosis 'Normocalcemic tumoral calcinosis' SubClassOf 'Tumoral calcinosis' 'Normocalcemic tumoral calcinosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0013401 hereditary spastic paraplegia 51 'hereditary spastic paraplegia 51' SubClassOf 'Severe intellectual disability and progressive spastic paraplegia' 'hereditary spastic paraplegia 51' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017241 http://www.orpha.net/ORDO/Orphanet_284408 Glycerol kinase deficiency, infantile form 'Glycerol kinase deficiency, infantile form' SubClassOf 'Glycerol kinase deficiency' http://purl.obolibrary.org/obo/MONDO_0013419 complement component C1s deficiency 'complement component C1s deficiency' SubClassOf 'immunodeficiency due to a classical component pathway complement deficiency' 'complement component C1s deficiency' SubClassOf 'immunodeficiency due to a classical component pathway complement deficiency' http://purl.obolibrary.org/obo/MONDO_0013411 cataract 16 multiple types 'cataract 16 multiple types' SubClassOf 'early-onset zonular cataract' 'cataract 16 multiple types' SubClassOf 'early-onset zonular cataract' http://www.orpha.net/ORDO/Orphanet_284411 Glycerol kinase deficiency, juvenile form 'Glycerol kinase deficiency, juvenile form' SubClassOf 'Isolated glycerol kinase deficiency' 'Glycerol kinase deficiency, juvenile form' SubClassOf 'Isolated glycerol kinase deficiency' http://www.orpha.net/ORDO/Orphanet_284414 Glycerol kinase deficiency, adult form 'Glycerol kinase deficiency, adult form' SubClassOf 'Isolated glycerol kinase deficiency' 'Glycerol kinase deficiency, adult form' SubClassOf 'Isolated glycerol kinase deficiency' http://www.orpha.net/ORDO/Orphanet_284417 Phosphoserine aminotransferase deficiency 'Phosphoserine aminotransferase deficiency' SubClassOf 'syndromic intellectual disability' 'Phosphoserine aminotransferase deficiency' SubClassOf 'Neurometabolic disorder due to serine deficiency' 'Phosphoserine aminotransferase deficiency' SubClassOf 'Neurometabolic disorder due to serine deficiency' http://purl.obolibrary.org/obo/MONDO_0013421 type II complement component 8 deficiency 'type II complement component 8 deficiency' SubClassOf 'Immunodeficiency due to a late component of complements deficiency' 'type II complement component 8 deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015700 http://www.orpha.net/ORDO/Orphanet_98099 Autosomal recessive syndromic cerebellar ataxia 'Autosomal recessive syndromic cerebellar ataxia' SubClassOf 'Autosomal recessive cerebellar ataxia' 'Autosomal recessive syndromic cerebellar ataxia' SubClassOf 'Autosomal recessive cerebellar ataxia' http://www.orpha.net/ORDO/Orphanet_98096 Autosomal recessive metabolic cerebellar ataxia 'Autosomal recessive metabolic cerebellar ataxia' SubClassOf 'Autosomal recessive cerebellar ataxia' 'Autosomal recessive metabolic cerebellar ataxia' SubClassOf 'Autosomal recessive cerebellar ataxia' http://www.orpha.net/ORDO/Orphanet_98095 Autosomal recessive congenital cerebellar ataxia 'Autosomal recessive congenital cerebellar ataxia' SubClassOf 'Autosomal recessive cerebellar ataxia' 'Autosomal recessive congenital cerebellar ataxia' SubClassOf 'Autosomal recessive cerebellar ataxia' http://www.orpha.net/ORDO/Orphanet_98098 Autosomal recessive degenerative and progressive cerebellar ataxia 'Autosomal recessive degenerative and progressive cerebellar ataxia' SubClassOf 'Autosomal recessive cerebellar ataxia' 'Autosomal recessive degenerative and progressive cerebellar ataxia' SubClassOf 'Autosomal recessive cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0001459 radial neuropathy 'radial neuropathy' SubClassOf 'limb disorder' http://purl.obolibrary.org/obo/MONDO_0025445 Wieacker-Wolff syndrome (spectrum) 'Wieacker-Wolff syndrome (spectrum)' SubClassOf 'Genetic skeletal muscle disease' 'Wieacker-Wolff syndrome (spectrum)' SubClassOf 'Arthrogryposis multiplex congenita' 'Wieacker-Wolff syndrome (spectrum)' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020120 'Wieacker-Wolff syndrome (spectrum)' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015168 http://www.ebi.ac.uk/efo/EFO_0008623 dysthymic disorder 'dysthymic disorder' SubClassOf 'mood disorder' 'dysthymic disorder' SubClassOf 'mood disorder' http://www.ebi.ac.uk/efo/EFO_0006352 laryngeal squamous cell carcinoma 'laryngeal squamous cell carcinoma' SubClassOf 'laryngeal carcinoma' 'laryngeal squamous cell carcinoma' SubClassOf 'laryngeal carcinoma' http://www.orpha.net/ORDO/Orphanet_52901 Isolated follicle stimulating hormone deficiency 'Isolated follicle stimulating hormone deficiency' SubClassOf 'hypogonadotropic hypogonadism' http://www.orpha.net/ORDO/Orphanet_284804 Ocular albinism 'Ocular albinism' SubClassOf 'Oculocutaneous or ocular albinism' 'Ocular albinism' SubClassOf 'Disorder of melanin metabolism' 'Ocular albinism' SubClassOf 'Oculocutaneous or ocular albinism' 'Ocular albinism' SubClassOf 'Disorder of melanin metabolism' http://www.orpha.net/ORDO/Orphanet_247827 Ectodermal dysplasia - cutaneous syndactyly syndrome 'Ectodermal dysplasia - cutaneous syndactyly syndrome' SubClassOf 'Ectodermal dysplasia - syndactyly syndrome' 'Ectodermal dysplasia - cutaneous syndactyly syndrome' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_247820 Ectodermal dysplasia - syndactyly syndrome 'Ectodermal dysplasia - syndactyly syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Ectodermal dysplasia - syndactyly syndrome' SubClassOf 'Ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0001288 endometriosis of rectovaginal septum and vagina 'endometriosis of rectovaginal septum and vagina' SubClassOf 'endometriosis' 'endometriosis of rectovaginal septum and vagina' SubClassOf 'endometriosis' http://www.orpha.net/ORDO/Orphanet_284814 Disorder of phenylalanine metabolism 'Disorder of phenylalanine metabolism' SubClassOf 'inherited amino acid metabolic disorder' 'Disorder of phenylalanine metabolism' SubClassOf 'Disorder of phenylalanin or tyrosine metabolism' 'Disorder of phenylalanine metabolism' SubClassOf 'Disorder of phenylalanin or tyrosine metabolism' http://www.orpha.net/ORDO/Orphanet_284811 Syndromic oculocutaneous albinism 'Syndromic oculocutaneous albinism' SubClassOf 'Disorder of melanin metabolism' http://purl.obolibrary.org/obo/MONDO_0001285 endometriosis of pelvic peritoneum 'endometriosis of pelvic peritoneum' SubClassOf 'endometriosis' 'endometriosis of pelvic peritoneum' SubClassOf 'endometriosis' http://www.orpha.net/ORDO/Orphanet_284818 Disorder of tyrosine metabolism 'Disorder of tyrosine metabolism' SubClassOf 'Disorder of phenylalanin or tyrosine metabolism' 'Disorder of tyrosine metabolism' SubClassOf 'inherited amino acid metabolic disorder' 'Disorder of tyrosine metabolism' SubClassOf 'Disorder of phenylalanin or tyrosine metabolism' http://purl.obolibrary.org/obo/MONDO_0001282 fallopian tube endometriosis 'fallopian tube endometriosis' SubClassOf 'endometriosis' 'fallopian tube endometriosis' SubClassOf 'endometriosis' http://www.orpha.net/ORDO/Orphanet_247834 Occult macular dystrophy 'Occult macular dystrophy' SubClassOf 'Genetic macular dystrophy' 'Occult macular dystrophy' SubClassOf 'macular degeneration' 'Occult macular dystrophy' SubClassOf 'Genetic macular dystrophy' http://purl.obolibrary.org/obo/MONDO_0001299 diabetic autonomic neuropathy 'diabetic autonomic neuropathy' SubClassOf 'autonomic neuropathy' 'diabetic autonomic neuropathy' SubClassOf 'autonomic neuropathy' http://purl.obolibrary.org/obo/MONDO_0001296 acquired night blindness 'acquired night blindness' SubClassOf 'night blindness' 'acquired night blindness' SubClassOf 'night blindness' http://purl.obolibrary.org/obo/MONDO_0013279 long QT syndrome 13 'long QT syndrome 13' SubClassOf 'Familial long QT syndrome' 'long QT syndrome 13' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019171 http://www.ebi.ac.uk/efo/EFO_0006388 cystic renal cell carcinoma 'cystic renal cell carcinoma' SubClassOf 'renal cell carcinoma' 'cystic renal cell carcinoma' SubClassOf 'renal cell carcinoma' http://www.ebi.ac.uk/efo/EFO_0006387 cystadenocarcinoma 'cystadenocarcinoma' SubClassOf 'adenocarcinoma' 'cystadenocarcinoma' SubClassOf 'adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0013286 immunodeficiency, common variable, 6 'immunodeficiency, common variable, 6' SubClassOf 'Common variable immunodeficiency' 'immunodeficiency, common variable, 6' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015517 http://purl.obolibrary.org/obo/MONDO_0013284 immunodeficiency, common variable, 4 'immunodeficiency, common variable, 4' SubClassOf 'Common variable immunodeficiency' 'immunodeficiency, common variable, 4' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015517 http://www.orpha.net/ORDO/Orphanet_247868 NLRP12-associated hereditary periodic fever syndrome 'NLRP12-associated hereditary periodic fever syndrome' SubClassOf 'Familial cold urticaria' 'NLRP12-associated hereditary periodic fever syndrome' SubClassOf 'Hereditary periodic fever syndrome' http://www.orpha.net/ORDO/Orphanet_369881 2p21 microdeletion syndrome without cystinuria '2p21 microdeletion syndrome without cystinuria' SubClassOf '2p21 microdeletion syndrome' '2p21 microdeletion syndrome without cystinuria' SubClassOf 'Homozygous 2p21 microdeletion syndrome' '2p21 microdeletion syndrome without cystinuria' SubClassOf 'Hypotonia - cystinuria type 1' '2p21 microdeletion syndrome without cystinuria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_140997 Orofaciodigital syndrome 'Orofaciodigital syndrome' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Orofaciodigital syndrome' SubClassOf 'Oromandibular-limb anomalies syndrome' 'Orofaciodigital syndrome' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Orofaciodigital syndrome' SubClassOf 'Oromandibular-limb anomalies syndrome' http://www.orpha.net/ORDO/Orphanet_369886 Homozygous 2p21 microdeletion syndrome 'Homozygous 2p21 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 2' 'Homozygous 2p21 microdeletion syndrome' SubClassOf 'Genetic renal tubular disease' 'Homozygous 2p21 microdeletion syndrome' SubClassOf 'Disorder of amino acid absorption and transport' 'Homozygous 2p21 microdeletion syndrome' SubClassOf 'Mitochondrial disease' 'Homozygous 2p21 microdeletion syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 2' 'Homozygous 2p21 microdeletion syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 2' http://www.orpha.net/ORDO/Orphanet_88924 Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis 'Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis' SubClassOf 'Familial cystic renal disease' 'Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis' SubClassOf 'Partial deletion of the short arm of chromosome 16' 'Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis' SubClassOf 'Partial deletion of the short arm of chromosome 16' http://www.orpha.net/ORDO/Orphanet_88919 Autosomal recessive Alport syndrome 'Autosomal recessive Alport syndrome' SubClassOf 'autosomal recessive disease' 'Autosomal recessive Alport syndrome' SubClassOf 'Alport syndrome' 'Autosomal recessive Alport syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018965 http://www.orpha.net/ORDO/Orphanet_369873 Obesity due to SIM1 deficiency 'Obesity due to SIM1 deficiency' SubClassOf 'Genetic non-syndromic obesity' 'Obesity due to SIM1 deficiency' SubClassOf 'Genetic non-syndromic obesity' http://www.orpha.net/ORDO/Orphanet_88918 Autosomal dominant Alport syndrome 'Autosomal dominant Alport syndrome' SubClassOf 'autosomal dominant disease' 'Autosomal dominant Alport syndrome' SubClassOf 'Alport syndrome' 'Autosomal dominant Alport syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018965 http://www.orpha.net/ORDO/Orphanet_88917 X-linked Alport syndrome 'X-linked Alport syndrome' SubClassOf 'X-linked deafness' 'X-linked Alport syndrome' SubClassOf 'Alport syndrome' 'X-linked Alport syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_369891 Cardiac anomalies-developmental delay-facial dysmorphism syndrome 'Cardiac anomalies-developmental delay-facial dysmorphism syndrome' SubClassOf 'Genetic cardiac anomaly' 'Cardiac anomalies-developmental delay-facial dysmorphism syndrome' SubClassOf 'heart disease' 'Cardiac anomalies-developmental delay-facial dysmorphism syndrome' SubClassOf 'syndromic intellectual disability' 'Cardiac anomalies-developmental delay-facial dysmorphism syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Cardiac anomalies-developmental delay-facial dysmorphism syndrome' SubClassOf 'congenital nervous system disorder' 'Cardiac anomalies-developmental delay-facial dysmorphism syndrome' SubClassOf 'Genetic cardiac anomaly' 'Cardiac anomalies-developmental delay-facial dysmorphism syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_369894 Early infantile epileptic encephalopathy without suppression burst 'Early infantile epileptic encephalopathy without suppression burst' SubClassOf 'Developmental anomaly of metabolic origin' 'Early infantile epileptic encephalopathy without suppression burst' SubClassOf 'developmental and epileptic encephalopathy' 'Early infantile epileptic encephalopathy without suppression burst' SubClassOf 'Infantile epilepsy syndrome' 'Early infantile epileptic encephalopathy without suppression burst' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Early infantile epileptic encephalopathy without suppression burst' SubClassOf 'Infantile epilepsy syndrome' 'Early infantile epileptic encephalopathy without suppression burst' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_369897 Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies' SubClassOf 'Mitochondrial DNA depletion syndrome, encephalomyopathic form' 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies' SubClassOf 'Mitochondrial DNA depletion syndrome, encephalomyopathic form' http://www.orpha.net/ORDO/Orphanet_140957 Autosomal dominant macrothrombocytopenia 'Autosomal dominant macrothrombocytopenia' SubClassOf 'Inherited giant platelet disorder' 'Autosomal dominant macrothrombocytopenia' SubClassOf 'Inherited giant platelet disorder' http://www.orpha.net/ORDO/Orphanet_140952 Syndactyly - telecanthus - anogenital and renal malformations 'Syndactyly - telecanthus - anogenital and renal malformations' SubClassOf 'Syndromic anorectal malformation' 'Syndactyly - telecanthus - anogenital and renal malformations' SubClassOf 'congenital limb malformation' 'Syndactyly - telecanthus - anogenital and renal malformations' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Syndactyly - telecanthus - anogenital and renal malformations' SubClassOf 'Syndromic anorectal malformation' 'Syndactyly - telecanthus - anogenital and renal malformations' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_86309 DPAGT1-CDG 'DPAGT1-CDG' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'DPAGT1-CDG' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'DPAGT1-CDG' SubClassOf 'congenital nervous system disorder' 'DPAGT1-CDG' SubClassOf 'Disorder of protein N-glycosylation' 'DPAGT1-CDG' SubClassOf 'congenital disorder of glycosylation type I' 'DPAGT1-CDG' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_49382 Achromatopsia 'Achromatopsia' SubClassOf 'Color-vision disease' 'Achromatopsia' SubClassOf 'disease has feature' some 'amblyopia' 'Achromatopsia' SubClassOf 'Syndromic myopia' 'Achromatopsia' SubClassOf 'Color-vision disease' 'Achromatopsia' SubClassOf 'Syndromic myopia' http://www.orpha.net/ORDO/Orphanet_247806 APC-related attenuated familial adenomatous polyposis 'APC-related attenuated familial adenomatous polyposis' SubClassOf 'Attenuated familial adenomatous polyposis' 'APC-related attenuated familial adenomatous polyposis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_140969 Saldino-Mainzer syndrome 'Saldino-Mainzer syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'Saldino-Mainzer syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Saldino-Mainzer syndrome' SubClassOf 'Acromelic dysplasia' 'Saldino-Mainzer syndrome' SubClassOf 'Syndromic retinitis pigmentosa' 'Saldino-Mainzer syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_247815 Autosomal recessive ataxia due to PEX10 deficiency 'Autosomal recessive ataxia due to PEX10 deficiency' SubClassOf 'Autosomal recessive metabolic cerebellar ataxia' 'Autosomal recessive ataxia due to PEX10 deficiency' SubClassOf 'Autosomal recessive metabolic cerebellar ataxia' http://www.orpha.net/ORDO/Orphanet_140966 Palmoplantar keratoderma, Nagashima type 'Palmoplantar keratoderma, Nagashima type' SubClassOf 'Autosomal recessive isolated diffuse palmoplantar keratoderma' 'Palmoplantar keratoderma, Nagashima type' SubClassOf 'Autosomal recessive isolated diffuse palmoplantar keratoderma' http://www.orpha.net/ORDO/Orphanet_140963 Bilateral microtia - deafness - cleft palate 'Bilateral microtia - deafness - cleft palate' SubClassOf 'Orofacial clefting syndrome' 'Bilateral microtia - deafness - cleft palate' SubClassOf 'Syndromic genetic deafness' 'Bilateral microtia - deafness - cleft palate' SubClassOf 'Syndromic genetic deafness' 'Bilateral microtia - deafness - cleft palate' SubClassOf 'Orofacial clefting syndrome' http://www.orpha.net/ORDO/Orphanet_88950 Autosomal dominant medullary cystic kidney disease with hyperuricemia 'Autosomal dominant medullary cystic kidney disease with hyperuricemia' SubClassOf 'Autosomal dominant medullary cystic kidney disease with or without hyperuricemia' 'Autosomal dominant medullary cystic kidney disease with hyperuricemia' SubClassOf 'Autosomal dominant medullary cystic kidney disease with or without hyperuricemia' http://www.orpha.net/ORDO/Orphanet_235832 Congenital vascular bone syndrome 'Congenital vascular bone syndrome' SubClassOf 'has modifier' some 'rare' 'Congenital vascular bone syndrome' SubClassOf 'bone disease' http://www.orpha.net/ORDO/Orphanet_140976 RHYNS syndrome 'RHYNS syndrome' SubClassOf 'Familial cystic renal disease' 'RHYNS syndrome' SubClassOf 'Syndromic retinitis pigmentosa' 'RHYNS syndrome' SubClassOf 'Genetic renal tubular disease' 'RHYNS syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_88949 Autosomal dominant medullary cystic kidney disease without hyperuricemia 'Autosomal dominant medullary cystic kidney disease without hyperuricemia' SubClassOf 'Autosomal dominant medullary cystic kidney disease with or without hyperuricemia' 'Autosomal dominant medullary cystic kidney disease without hyperuricemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_88940 Pseudohypoaldosteronism type 2C 'Pseudohypoaldosteronism type 2C' SubClassOf 'Pseudohypoaldosteronism type 2' 'Pseudohypoaldosteronism type 2C' SubClassOf 'Pseudohypoaldosteronism type 2' http://www.orpha.net/ORDO/Orphanet_140989 Primary central nervous system vasculitis 'Primary central nervous system vasculitis' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'Primary central nervous system vasculitis' SubClassOf 'predominantly medium-vessel vasculitis' 'Primary central nervous system vasculitis' SubClassOf 'Genetic central nervous system and retinal vascular disease' http://www.orpha.net/ORDO/Orphanet_88939 Pseudohypoaldosteronism type 2B 'Pseudohypoaldosteronism type 2B' SubClassOf 'Pseudohypoaldosteronism type 2' 'Pseudohypoaldosteronism type 2B' SubClassOf 'Pseudohypoaldosteronism type 2' http://www.orpha.net/ORDO/Orphanet_88938 Pseudohypoaldosteronism type 2A 'Pseudohypoaldosteronism type 2A' SubClassOf 'Pseudohypoaldosteronism type 2' 'Pseudohypoaldosteronism type 2A' SubClassOf 'Pseudohypoaldosteronism type 2' http://www.orpha.net/ORDO/Orphanet_269190 Encephaloclastic disorder 'Encephaloclastic disorder' SubClassOf 'cerebral malformation' http://www.orpha.net/ORDO/Orphanet_369920 Pontocerebellar hypoplasia type 9 'Pontocerebellar hypoplasia type 9' SubClassOf 'Non-syndromic pontocerebellar hypoplasia' 'Pontocerebellar hypoplasia type 9' SubClassOf 'Non-syndromic pontocerebellar hypoplasia' http://www.orpha.net/ORDO/Orphanet_98349 Autosomal dominant isolated diffuse palmoplantar keratoderma 'Autosomal dominant isolated diffuse palmoplantar keratoderma' SubClassOf 'Isolated diffuse palmoplantar keratoderma' 'Autosomal dominant isolated diffuse palmoplantar keratoderma' SubClassOf 'autosomal dominant disease' 'Autosomal dominant isolated diffuse palmoplantar keratoderma' SubClassOf 'Isolated diffuse palmoplantar keratoderma' http://www.orpha.net/ORDO/Orphanet_98356 Autosomal recessive isolated diffuse palmoplantar keratoderma 'Autosomal recessive isolated diffuse palmoplantar keratoderma' SubClassOf 'autosomal recessive disease' 'Autosomal recessive isolated diffuse palmoplantar keratoderma' SubClassOf 'Isolated diffuse palmoplantar keratoderma' 'Autosomal recessive isolated diffuse palmoplantar keratoderma' SubClassOf 'Isolated diffuse palmoplantar keratoderma' http://www.orpha.net/ORDO/Orphanet_369913 Combined oxidative phosphorylation defect type 17 'Combined oxidative phosphorylation defect type 17' SubClassOf 'combined oxidative phosphorylation deficiency' http://www.orpha.net/ORDO/Orphanet_369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome 'Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome' SubClassOf 'Syndromic genetic deafness' 'Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome' SubClassOf 'syndromic intellectual disability' 'Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome' SubClassOf 'Rare genetic dystonia' 'Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome' SubClassOf 'syndrome caused by partial chromosomal deletion' 'Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_88993 Esophageal malformation 'Esophageal malformation' SubClassOf 'Genetic digestive tract malformation' 'Esophageal malformation' SubClassOf 'Genetic digestive tract malformation' http://www.orpha.net/ORDO/Orphanet_370927 SSR4-CDG 'SSR4-CDG' SubClassOf 'Developmental anomaly of metabolic origin' 'SSR4-CDG' SubClassOf 'congenital disorder of glycosylation type I' 'SSR4-CDG' SubClassOf 'congenital nervous system disorder' 'SSR4-CDG' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'SSR4-CDG' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'SSR4-CDG' SubClassOf 'Disorder of protein N-glycosylation' 'SSR4-CDG' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_370921 STT3A-CDG 'STT3A-CDG' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'STT3A-CDG' SubClassOf 'Disorder of protein N-glycosylation' 'STT3A-CDG' SubClassOf 'congenital nervous system disorder' 'STT3A-CDG' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'STT3A-CDG' SubClassOf 'congenital disorder of glycosylation type I' 'STT3A-CDG' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_370924 STT3B-CDG 'STT3B-CDG' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'STT3B-CDG' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'STT3B-CDG' SubClassOf 'congenital nervous system disorder' 'STT3B-CDG' SubClassOf 'congenital disorder of glycosylation type I' 'STT3B-CDG' SubClassOf 'Disorder of protein N-glycosylation' 'STT3B-CDG' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98365 Hereditary stomatocytosis 'Hereditary stomatocytosis' SubClassOf 'normocytic anemia' http://www.orpha.net/ORDO/Orphanet_369942 CADDS 'CADDS' SubClassOf 'Rare metabolic liver disease' 'CADDS' SubClassOf 'Neurometabolic disease' 'CADDS' SubClassOf 'Developmental anomaly of metabolic origin' 'CADDS' SubClassOf 'Leukodystrophy' 'CADDS' SubClassOf 'Peroxisomal disease' 'CADDS' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98362 Constitutional sideroblastic anemia 'Constitutional sideroblastic anemia' SubClassOf 'sideroblastic anemia' 'Constitutional sideroblastic anemia' EquivalentTo 'sideroblastic anemia' and ('has modifier' some 'inherited') http://www.orpha.net/ORDO/Orphanet_369929 Aldosterone-producing adenoma with seizures and neurological abnormalities 'Aldosterone-producing adenoma with seizures and neurological abnormalities' SubClassOf 'Genetic hyperaldosteronism' 'Aldosterone-producing adenoma with seizures and neurological abnormalities' SubClassOf 'Familial hyperaldosteronism' 'Aldosterone-producing adenoma with seizures and neurological abnormalities' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016525 http://www.orpha.net/ORDO/Orphanet_308993 Glycerol kinase deficiency 'Glycerol kinase deficiency' SubClassOf 'Disorder of glycerol metabolism' 'Glycerol kinase deficiency' SubClassOf 'Disorder of glycerol metabolism' http://www.orpha.net/ORDO/Orphanet_308998 Disorder of glyoxylate metabolism 'Disorder of glyoxylate metabolism' SubClassOf 'peroxisomal single enzyme/protein defect' http://www.orpha.net/ORDO/Orphanet_370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf 'Disorder of protein N-glycosylation' 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf 'Distal arthrogryposis' 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf 'congenital nervous system disorder' 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf 'Disorder of protein N-glycosylation' 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf 'Distal arthrogryposis' http://www.orpha.net/ORDO/Orphanet_284790 Qualitative or quantitative defects of tropomyosin 'Qualitative or quantitative defects of tropomyosin' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of tropomyosin' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' http://www.orpha.net/ORDO/Orphanet_369962 Methylmalonic acidemia with homocystinuria, type cblX 'Methylmalonic acidemia with homocystinuria, type cblX' SubClassOf 'Cerebral organic aciduria' 'Methylmalonic acidemia with homocystinuria, type cblX' SubClassOf 'Methylmalonic acidemia with homocystinuria' 'Methylmalonic acidemia with homocystinuria, type cblX' SubClassOf 'X-linked non-syndromic intellectual disability' 'Methylmalonic acidemia with homocystinuria, type cblX' SubClassOf 'Methylmalonic acidemia with homocystinuria' http://purl.obolibrary.org/obo/MONDO_0003915 cortical thymoma 'cortical thymoma' SubClassOf 'thymoma type B' 'cortical thymoma' SubClassOf 'thymoma type B' http://www.orpha.net/ORDO/Orphanet_370938 Salt-and-pepper syndrome 'Salt-and-pepper syndrome' SubClassOf 'ST3GAL5-CDG' 'Salt-and-pepper syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98306 Familial partial lipodystrophy 'Familial partial lipodystrophy' SubClassOf 'laminopathy' 'Familial partial lipodystrophy' EquivalentTo 'partial lipodystrophy' and ('has modifier' some 'inherited') 'Familial partial lipodystrophy' SubClassOf 'partial lipodystrophy' 'Familial partial lipodystrophy' SubClassOf 'Genetic lipodystrophy' 'Familial partial lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020087 'Familial partial lipodystrophy' SubClassOf 'Genetic lipodystrophy' http://www.orpha.net/ORDO/Orphanet_98305 Genetic lipodystrophy 'Genetic lipodystrophy' SubClassOf 'genetic skin disease' 'Genetic lipodystrophy' SubClassOf 'Inborn errors of metabolism' 'Genetic lipodystrophy' SubClassOf 'lipodystrophy' 'Genetic lipodystrophy' SubClassOf 'Primary lipodystrophy' 'Genetic lipodystrophy' EquivalentTo 'lipodystrophy' and ('has modifier' some 'inherited') 'Genetic lipodystrophy' SubClassOf 'Primary lipodystrophy' http://www.orpha.net/ORDO/Orphanet_370930 XYLT1-CDG 'XYLT1-CDG' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'XYLT1-CDG' SubClassOf 'Congenital disorder of glycosylation with developmental anomaly' 'XYLT1-CDG' SubClassOf 'congenital nervous system disorder' 'XYLT1-CDG' SubClassOf 'Disorder of O-xylosylglycan synthesis' 'XYLT1-CDG' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'XYLT1-CDG' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_370933 ST3GAL5-CDG 'ST3GAL5-CDG' SubClassOf 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' 'ST3GAL5-CDG' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' 'ST3GAL5-CDG' SubClassOf 'Congenital disorder of glycosylation with skin involvement' 'ST3GAL5-CDG' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'ST3GAL5-CDG' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'ST3GAL5-CDG' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_369950 Intellectual disability-seizures-macrocephaly-obesity syndrome 'Intellectual disability-seizures-macrocephaly-obesity syndrome' SubClassOf 'Complex chromosomal rearrangement' 'Intellectual disability-seizures-macrocephaly-obesity syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Intellectual disability-seizures-macrocephaly-obesity syndrome' SubClassOf 'syndromic intellectual disability' 'Intellectual disability-seizures-macrocephaly-obesity syndrome' SubClassOf 'congenital nervous system disorder' 'Intellectual disability-seizures-macrocephaly-obesity syndrome' SubClassOf 'Syndromic obesity' 'Intellectual disability-seizures-macrocephaly-obesity syndrome' SubClassOf 'Complex chromosomal rearrangement' 'Intellectual disability-seizures-macrocephaly-obesity syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Intellectual disability-seizures-macrocephaly-obesity syndrome' SubClassOf 'Syndromic obesity' http://www.orpha.net/ORDO/Orphanet_369955 Methylmalonic acidemia with homocystinuria, type cblJ 'Methylmalonic acidemia with homocystinuria, type cblJ' SubClassOf 'Methylmalonic acidemia with homocystinuria' 'Methylmalonic acidemia with homocystinuria, type cblJ' SubClassOf 'Methylmalonic acidemia with homocystinuria' http://www.orpha.net/ORDO/Orphanet_370968 Congenital muscular dystrophy with intellectual disability 'Congenital muscular dystrophy with intellectual disability' SubClassOf 'Congenital muscular dystrophy due to dystroglycanopathy' 'Congenital muscular dystrophy with intellectual disability' SubClassOf 'Disorder of O-mannosylglycan synthesis' 'Congenital muscular dystrophy with intellectual disability' SubClassOf 'Congenital muscular dystrophy due to dystroglycanopathy' 'Congenital muscular dystrophy with intellectual disability' SubClassOf 'Disorder of O-mannosylglycan synthesis' http://www.orpha.net/ORDO/Orphanet_370959 Congenital muscular dystrophy with cerebellar involvement 'Congenital muscular dystrophy with cerebellar involvement' SubClassOf 'Congenital muscular dystrophy due to dystroglycanopathy' 'Congenital muscular dystrophy with cerebellar involvement' SubClassOf 'Disorder of O-mannosylglycan synthesis' 'Congenital muscular dystrophy with cerebellar involvement' SubClassOf 'Congenital muscular dystrophy due to dystroglycanopathy' 'Congenital muscular dystrophy with cerebellar involvement' SubClassOf 'Disorder of O-mannosylglycan synthesis' http://www.orpha.net/ORDO/Orphanet_370953 Congenital muscular dystrophy due to dystroglycanopathy 'Congenital muscular dystrophy due to dystroglycanopathy' SubClassOf 'Congenital muscular dystrophy' 'Congenital muscular dystrophy due to dystroglycanopathy' SubClassOf 'Congenital muscular dystrophy' http://www.orpha.net/ORDO/Orphanet_369970 Microcornea-myopic chorioretinal atrophy-telecanthus syndrome 'Microcornea-myopic chorioretinal atrophy-telecanthus syndrome' SubClassOf 'Retinal dystrophy' 'Microcornea-myopic chorioretinal atrophy-telecanthus syndrome' SubClassOf 'Genetic developmental defect of the eye' 'Microcornea-myopic chorioretinal atrophy-telecanthus syndrome' SubClassOf 'Retinal dystrophy' 'Microcornea-myopic chorioretinal atrophy-telecanthus syndrome' SubClassOf 'Genetic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_282166 Inherited Creutzfeldt-Jakob disease 'Inherited Creutzfeldt-Jakob disease' EquivalentTo 'Creutzfeldt Jacob Disease' and ('has modifier' some 'inherited') 'Inherited Creutzfeldt-Jakob disease' SubClassOf 'inherited prion disease' 'Inherited Creutzfeldt-Jakob disease' SubClassOf 'disease arises from feature' some 'neurodegenerative disease' 'Inherited Creutzfeldt-Jakob disease' SubClassOf 'Creutzfeldt Jacob Disease' http://www.orpha.net/ORDO/Orphanet_369979 Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome 'Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_522077 infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome 'infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome' SubClassOf 'genetic disorder' 'infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing 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' 'non-syndromic urogenital tract malformation of male and female' SubClassOf 'non-syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0015933 non-syndromic urogenital tract malformation of male 'non-syndromic urogenital tract malformation of male' SubClassOf 'non-syndromic urogenital tract malformation' 'non-syndromic urogenital tract malformation of male' SubClassOf 'non-syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0015932 non-syndromic urogenital tract malformation of female 'non-syndromic urogenital tract malformation of female' SubClassOf 'non-syndromic urogenital tract malformation' 'non-syndromic urogenital tract malformation of female' SubClassOf 'non-syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0001300 autonomic neuropathy 'autonomic neuropathy' SubClassOf 'peripheral neuropathy' 'autonomic neuropathy' SubClassOf 'peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0003978 colon small cell neuroendocrine carcinoma 'colon small cell neuroendocrine carcinoma' SubClassOf 'colon carcinoma' 'colon small cell neuroendocrine carcinoma' SubClassOf 'small cell carcinoma' 'colon small cell neuroendocrine carcinoma' SubClassOf 'colon carcinoma' 'colon small cell neuroendocrine carcinoma' SubClassOf 'small cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0013302 nephronophthisis 11 'nephronophthisis 11' SubClassOf 'Nephronophthisis' 'nephronophthisis 11' SubClassOf 'Senior-Boichis syndrome' 'nephronophthisis 11' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019394 'nephronophthisis 11' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019005 http://www.orpha.net/ORDO/Orphanet_247798 MUTYH-related attenuated familial adenomatous polyposis 'MUTYH-related attenuated familial adenomatous polyposis' SubClassOf 'Attenuated familial adenomatous polyposis' 'MUTYH-related attenuated familial adenomatous polyposis' SubClassOf 'autosomal recessive disease' 'MUTYH-related attenuated familial adenomatous polyposis' SubClassOf 'Familial adenomatous polyposis' 'MUTYH-related attenuated familial adenomatous polyposis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_247794 Juvenile cataract - microcornea - renal glucosuria 'Juvenile cataract - microcornea - renal glucosuria' SubClassOf 'autosomal dominant cataract' 'Juvenile cataract - microcornea - renal glucosuria' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Juvenile cataract - microcornea - renal glucosuria' SubClassOf 'Disorder of carbohydrate absorption and transport' 'Juvenile cataract - microcornea - renal glucosuria' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Juvenile cataract - microcornea - renal glucosuria' SubClassOf 'Syndromic cataract' 'Juvenile cataract - microcornea - renal glucosuria' SubClassOf 'Disorder of carbohydrate absorption and transport' http://www.orpha.net/ORDO/Orphanet_282124 Partial deletion of chromosome 12 'Partial deletion of chromosome 12' SubClassOf 'chromosome 12 disorder' 'Partial deletion of chromosome 12' SubClassOf 'syndrome caused by partial chromosomal deletion' 'Partial deletion of chromosome 12' SubClassOf 'Partial autosomal monosomy' 'Partial deletion of chromosome 12' SubClassOf 'Partial autosomal monosomy' http://www.orpha.net/ORDO/Orphanet_284786 Qualitative or quantitative defects of troponin 'Qualitative or quantitative defects of troponin' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of troponin' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' http://www.orpha.net/ORDO/Orphanet_247790 FTH1-related iron overload 'FTH1-related iron overload' SubClassOf 'hereditary hemochromatosis' 'FTH1-related iron overload' SubClassOf 'has modifier' some 'rare' 'FTH1-related iron overload' SubClassOf 'Disorder of iron metabolism and transport' http://purl.obolibrary.org/obo/MONDO_0001332 palindromic rheumatism 'palindromic rheumatism' SubClassOf 'syndromic disease' 'palindromic rheumatism' SubClassOf 'rheumatic disease' 'palindromic rheumatism' SubClassOf 'syndromic disease' 'palindromic rheumatism' SubClassOf 'rheumatic disease' http://purl.obolibrary.org/obo/MONDO_0001336 familial hyperlipidemia 'familial hyperlipidemia' SubClassOf 'Disorder of lipid metabolism' 'familial hyperlipidemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002525 http://purl.obolibrary.org/obo/MONDO_0001334 hypertrichosis of eyelid 'hypertrichosis of eyelid' SubClassOf 'Hypertrichosis' 'hypertrichosis of eyelid' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019280 http://www.ebi.ac.uk/efo/EFO_0006318 breast ductal adenocarcinoma 'breast ductal adenocarcinoma' SubClassOf 'breast adenocarcinoma' 'breast ductal adenocarcinoma' SubClassOf 'breast adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0013324 lymphedema-posterior choanal atresia syndrome 'lymphedema-posterior choanal atresia syndrome' SubClassOf 'Genetic vascular anomaly' 'lymphedema-posterior choanal atresia syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016229 http://www.orpha.net/ORDO/Orphanet_369902 Orofaciodigital syndrome type 14 'Orofaciodigital syndrome type 14' SubClassOf 'Orofaciodigital syndrome' 'Orofaciodigital syndrome type 14' SubClassOf 'congenital nervous system disorder' 'Orofaciodigital syndrome type 14' SubClassOf 'Rare genetic neurological disorder' 'Orofaciodigital syndrome type 14' SubClassOf 'syndromic intellectual disability' 'Orofaciodigital syndrome type 14' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Orofaciodigital syndrome type 14' SubClassOf 'Orofaciodigital syndrome' http://purl.obolibrary.org/obo/MONDO_0013343 C1Q deficiency 'C1Q deficiency' SubClassOf 'immunodeficiency due to a classical component pathway complement deficiency' 'C1Q deficiency' SubClassOf 'immunodeficiency due to a classical component pathway complement deficiency' http://purl.obolibrary.org/obo/MONDO_0015792 transient congenital hypothyroidism 'transient congenital hypothyroidism' SubClassOf 'Congenital hypothyroidism' 'transient congenital hypothyroidism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018612 http://purl.obolibrary.org/obo/MONDO_0001169 spastic monoplegia 'spastic monoplegia' SubClassOf 'spastic cerebral palsy' 'spastic monoplegia' SubClassOf 'spastic cerebral palsy' http://purl.obolibrary.org/obo/MONDO_0027772 lung colloid adenocarcinoma 'lung colloid adenocarcinoma' SubClassOf 'lung adenocarcinoma' 'lung colloid adenocarcinoma' SubClassOf 'mucinous carcinoma' 'lung colloid adenocarcinoma' SubClassOf 'lung adenocarcinoma' 'lung colloid adenocarcinoma' SubClassOf 'mucinous carcinoma' http://www.orpha.net/ORDO/Orphanet_247709 Multiple endocrine neoplasia type 2B 'Multiple endocrine neoplasia type 2B' SubClassOf 'Multiple endocrine neoplasia type 2' 'Multiple endocrine neoplasia type 2B' SubClassOf 'Malignant Urinary System Neoplasm' 'Multiple endocrine neoplasia type 2B' SubClassOf 'autosomal dominant disease' 'Multiple endocrine neoplasia type 2B' SubClassOf 'Multiple endocrine neoplasia type 2' 'Multiple endocrine neoplasia type 2B' SubClassOf 'Malignant Urinary System Neoplasm' http://www.ebi.ac.uk/efo/EFO_0006276 GM15850 'GM15850' SubClassOf 'bearer_of' some 'Friedreich ataxia' 'GM15850' SubClassOf 'bearer_of' some http://purl.obolibrary.org/obo/MONDO_0100339 http://www.orpha.net/ORDO/Orphanet_221139 Combined immunodeficiency with facio-oculo-skeletal anomalies 'Combined immunodeficiency with facio-oculo-skeletal anomalies' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://www.orpha.net/ORDO/Orphanet_247768 Atypical Mayer-Rokitansky-Küster-Hauser syndrome 'Atypical Mayer-Rokitansky-Küster-Hauser syndrome' SubClassOf 'Mayer-Rokitansky-Küster-Hauser syndrome' 'Atypical Mayer-Rokitansky-Küster-Hauser syndrome' SubClassOf 'Syndrome with 46,XX disorder of sex development' 'Atypical Mayer-Rokitansky-Küster-Hauser syndrome' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' 'Atypical Mayer-Rokitansky-Küster-Hauser syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_247765 X-linked cerebellar ataxia 'X-linked cerebellar ataxia' SubClassOf 'X-linked disease' 'X-linked cerebellar ataxia' SubClassOf 'Rare hereditary ataxia' 'X-linked cerebellar ataxia' SubClassOf 'hereditary cerebellar ataxia' 'X-linked cerebellar ataxia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_221126 Fowler syndrome 'Fowler syndrome' SubClassOf 'Rare genetic neurological disorder' 'Fowler syndrome' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'Fowler syndrome' SubClassOf 'disorder of development or morphogenesis' 'Fowler syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_247775 Classic Mayer-Rokitansky-Küster-Hauser syndrome 'Classic Mayer-Rokitansky-Küster-Hauser syndrome' SubClassOf 'Mayer-Rokitansky-Küster-Hauser syndrome' 'Classic Mayer-Rokitansky-Küster-Hauser syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_221120 Pseudoaminopterin syndrome 'Pseudoaminopterin syndrome' SubClassOf 'syndromic intellectual disability' 'Pseudoaminopterin syndrome' SubClassOf 'Syndromic craniosynostosis' 'Pseudoaminopterin syndrome' SubClassOf 'Rare genetic neurological disorder' 'Pseudoaminopterin syndrome' SubClassOf 'congenital nervous system disorder' 'Pseudoaminopterin syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Pseudoaminopterin syndrome' SubClassOf 'Syndromic craniosynostosis' 'Pseudoaminopterin syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_221150 Pitt-Hopkins-like syndrome 'Pitt-Hopkins-like syndrome' SubClassOf 'syndromic intellectual disability' 'Pitt-Hopkins-like syndrome' SubClassOf 'congenital nervous system disorder' 'Pitt-Hopkins-like syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Pitt-Hopkins-like syndrome' SubClassOf 'Monogenic disease with epilepsy' 'Pitt-Hopkins-like syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Pitt-Hopkins-like syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_221145 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies 'Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies' SubClassOf 'autosomal recessive disease' 'Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies' SubClassOf 'inherited cutis laxa' http://purl.obolibrary.org/obo/MONDO_0013187 factor XIII, A subunit, deficiency of 'factor XIII, A subunit, deficiency of' SubClassOf 'Congenital factor XIII deficiency' 'factor XIII, A subunit, deficiency of' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021181 'factor XIII, A subunit, deficiency of' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018029 http://www.orpha.net/ORDO/Orphanet_369992 Severe dermatitis-multiple allergies-metabolic wasting syndrome 'Severe dermatitis-multiple allergies-metabolic wasting syndrome' SubClassOf 'epidermal disease' 'Severe dermatitis-multiple allergies-metabolic wasting syndrome' SubClassOf 'Hyper-IgE syndrome' 'Severe dermatitis-multiple allergies-metabolic wasting syndrome' SubClassOf 'allergic disease' 'Severe dermatitis-multiple allergies-metabolic wasting syndrome' SubClassOf 'genetic skin disease' 'Severe dermatitis-multiple allergies-metabolic wasting syndrome' SubClassOf 'immunodeficiency disease' http://www.orpha.net/ORDO/Orphanet_370980 Congenital muscular dystrophy without intellectual disability 'Congenital muscular dystrophy without intellectual disability' SubClassOf 'Congenital muscular dystrophy due to dystroglycanopathy' 'Congenital muscular dystrophy without intellectual disability' SubClassOf 'Disorder of O-mannosylglycan synthesis' 'Congenital muscular dystrophy without intellectual disability' SubClassOf 'Congenital muscular dystrophy due to dystroglycanopathy' 'Congenital muscular dystrophy without intellectual disability' SubClassOf 'Disorder of O-mannosylglycan synthesis' http://www.orpha.net/ORDO/Orphanet_369999 Diffuse palmoplantar keratoderma with painful fissures 'Diffuse palmoplantar keratoderma with painful fissures' SubClassOf 'Autosomal dominant isolated diffuse palmoplantar keratoderma' 'Diffuse palmoplantar keratoderma with painful fissures' SubClassOf 'Autosomal dominant isolated diffuse palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0025193 oculopharyngodistal myopathy 'oculopharyngodistal myopathy' SubClassOf 'Eyelids malposition disorder' 'oculopharyngodistal myopathy' SubClassOf 'Progressive muscular dystrophy' 'oculopharyngodistal myopathy' SubClassOf 'Distal myopathy' 'oculopharyngodistal myopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016106 'oculopharyngodistal myopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019117 'oculopharyngodistal myopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020158 'oculopharyngodistal myopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018949 http://www.orpha.net/ORDO/Orphanet_370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy 'Muscle-eye-brain disease with bilateral multicystic leucodystrophy' SubClassOf 'Primary qualitative or quantitative defects of alpha-dystroglycan' 'Muscle-eye-brain disease with bilateral multicystic leucodystrophy' SubClassOf 'Primary qualitative or quantitative defects of alpha-dystroglycan' http://www.orpha.net/ORDO/Orphanet_223713 Mitochondrial oxidative phosphorylation disorder 'Mitochondrial oxidative phosphorylation disorder' SubClassOf 'inborn mitochondrial metabolism disorder' 'Mitochondrial oxidative phosphorylation disorder' SubClassOf 'Mitochondrial disease' http://www.orpha.net/ORDO/Orphanet_140874 Joubert syndrome and related disorders 'Joubert syndrome and related disorders' SubClassOf 'Autosomal recessive congenital cerebellar ataxia' 'Joubert syndrome and related disorders' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_306462 Congenital sucrase-isomaltase deficiency without starch intolerance 'Congenital sucrase-isomaltase deficiency without starch intolerance' SubClassOf 'Congenital sucrase-isomaltase deficiency' 'Congenital sucrase-isomaltase deficiency without starch intolerance' DisjointWith 'Congenital sucrase-isomaltase deficiency with starch and lactose intolerance' 'Congenital sucrase-isomaltase deficiency without starch intolerance' SubClassOf 'Congenital sucrase-isomaltase deficiency' http://www.orpha.net/ORDO/Orphanet_140917 Stapes ankylosis with broad thumbs and toes 'Stapes ankylosis with broad thumbs and toes' SubClassOf 'Syndromic genetic deafness' 'Stapes ankylosis with broad thumbs and toes' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_306474 Congenital sucrase-isomaltase deficiency with starch and lactose intolerance 'Congenital sucrase-isomaltase deficiency with starch and lactose intolerance' SubClassOf 'Congenital sucrase-isomaltase deficiency' 'Congenital sucrase-isomaltase deficiency without starch intolerance' DisjointWith 'Congenital sucrase-isomaltase deficiency with starch and lactose intolerance' 'Congenital sucrase-isomaltase deficiency with starch and lactose intolerance' SubClassOf 'Congenital sucrase-isomaltase deficiency' http://www.orpha.net/ORDO/Orphanet_294049 Reunion Island's Larsen syndrome 'Reunion Island's Larsen syndrome' SubClassOf 'Disorder of multiple glycosylation' 'Reunion Island's Larsen syndrome' SubClassOf 'Congenital disorder of glycosylation-related bone disorder' http://www.orpha.net/ORDO/Orphanet_140922 Autosomal recessive limb-girdle muscular dystrophy type 2J 'Autosomal recessive limb-girdle muscular dystrophy type 2J' SubClassOf 'Qualitative or quantitative defects of titin' 'Autosomal recessive limb-girdle muscular dystrophy type 2J' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2J' SubClassOf 'Qualitative or quantitative defects of titin' 'Autosomal recessive limb-girdle muscular dystrophy type 2J' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' http://www.orpha.net/ORDO/Orphanet_140936 Lelis syndrome 'Lelis syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Lelis syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_140933 Linear atrophoderma of Moulin 'Linear atrophoderma of Moulin' SubClassOf 'Genetic dermis disorder' 'Linear atrophoderma of Moulin' SubClassOf 'genetic skin disease' 'Linear atrophoderma of Moulin' SubClassOf 'dermis disorder' 'Linear atrophoderma of Moulin' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019276 http://www.orpha.net/ORDO/Orphanet_98249 Ehlers-Danlos syndrome 'Ehlers-Danlos syndrome' SubClassOf 'syndromic disease' 'Ehlers-Danlos syndrome' SubClassOf 'Malformation syndrome with connective tissue involvement' 'Ehlers-Danlos syndrome' SubClassOf 'developmental defect during embryogenesis' 'Ehlers-Danlos syndrome' SubClassOf 'Genetic dermis elastic tissue disorder' 'Ehlers-Danlos syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Ehlers-Danlos syndrome' SubClassOf 'hereditary disorder of connective tissue' 'Ehlers-Danlos syndrome' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Ehlers-Danlos syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_306446 Congenital sucrase-isomaltase deficiency with minimal starch tolerance 'Congenital sucrase-isomaltase deficiency with minimal starch tolerance' SubClassOf 'Congenital sucrase-isomaltase deficiency' 'Congenital sucrase-isomaltase deficiency with minimal starch tolerance' SubClassOf 'Congenital sucrase-isomaltase deficiency' http://www.orpha.net/ORDO/Orphanet_294060 Multiple pterygium syndrome 'Multiple pterygium syndrome' SubClassOf 'Arthrogryposis syndrome' 'Multiple pterygium syndrome' SubClassOf 'Arthrogryposis syndrome' http://www.orpha.net/ORDO/Orphanet_98258 Infantile epilepsy syndrome 'Infantile epilepsy syndrome' SubClassOf 'Epilepsy syndrome' 'Infantile epilepsy syndrome' SubClassOf 'Epilepsy syndrome' http://www.orpha.net/ORDO/Orphanet_98257 Neonatal epilepsy syndrome 'Neonatal epilepsy syndrome' SubClassOf 'Epilepsy syndrome' 'Neonatal epilepsy syndrome' SubClassOf 'Epilepsy syndrome' http://www.orpha.net/ORDO/Orphanet_140944 CLOVE syndrome 'CLOVE syndrome' SubClassOf 'syndromic disease' 'CLOVE syndrome' SubClassOf 'subcutaneous tissue disorder' 'CLOVE syndrome' SubClassOf 'Genetic skin tumor' 'CLOVE syndrome' SubClassOf 'melanocytic nevus' 'CLOVE syndrome' SubClassOf 'cardiovascular organ benign neoplasm' 'CLOVE syndrome' SubClassOf 'vascular neoplasm' 'CLOVE syndrome' SubClassOf 'Genetic vascular anomaly' 'CLOVE syndrome' SubClassOf 'Genetic skin tumor' 'CLOVE syndrome' SubClassOf 'melanocytic nevus' 'CLOVE syndrome' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_140941 Short stature due to primary acid-labile subunit deficiency 'Short stature due to primary acid-labile subunit deficiency' SubClassOf 'Growth hormone insensitivity syndrome' 'Short stature due to primary acid-labile subunit deficiency' SubClassOf 'Growth hormone insensitivity syndrome' http://www.orpha.net/ORDO/Orphanet_98259 Childhood-onset epilepsy syndrome 'Childhood-onset epilepsy syndrome' SubClassOf 'Epilepsy syndrome' 'Childhood-onset epilepsy syndrome' SubClassOf 'Epilepsy syndrome' http://www.orpha.net/ORDO/Orphanet_101351 Familial isolated congenital asplenia 'Familial isolated congenital asplenia' SubClassOf 'Non-syndromic visceral malformation' 'Familial isolated congenital asplenia' SubClassOf 'Primary immunodeficiency due to a defect in innate immunity' 'Familial isolated congenital asplenia' SubClassOf 'has modifier' some 'congenital' 'Familial isolated congenital asplenia' SubClassOf 'Non-syndromic visceral malformation' http://purl.obolibrary.org/obo/MONDO_0003805 malignant pericardial mesothelioma 'malignant pericardial mesothelioma' SubClassOf 'Malignant Mesothelioma' 'malignant pericardial mesothelioma' SubClassOf 'Malignant Mesothelioma' http://www.orpha.net/ORDO/Orphanet_306436 Congenital sucrase-isomaltase deficiency with starch intolerance 'Congenital sucrase-isomaltase deficiency with starch intolerance' SubClassOf 'Congenital sucrase-isomaltase deficiency' 'Congenital sucrase-isomaltase deficiency with starch intolerance' SubClassOf 'Congenital sucrase-isomaltase deficiency' http://purl.obolibrary.org/obo/MONDO_0003812 ovarian endometrial cancer 'ovarian endometrial cancer' SubClassOf 'Malignant epithelial tumor of ovary' 'ovarian endometrial cancer' SubClassOf 'endometrioid tumor' 'ovarian endometrial cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018364 'ovarian endometrial cancer' SubClassOf 'endometrioid tumor' http://www.orpha.net/ORDO/Orphanet_101330 Porphyria cutanea tarda 'Porphyria cutanea tarda' SubClassOf 'dermatitis' 'Porphyria cutanea tarda' SubClassOf 'Chronic hepatic porphyria' 'Porphyria cutanea tarda' SubClassOf 'Chronic hepatic porphyria' http://www.orpha.net/ORDO/Orphanet_294016 Microcephaly-capillary malformation syndrome 'Microcephaly-capillary malformation syndrome' SubClassOf 'syndromic disease' 'Microcephaly-capillary malformation syndrome' SubClassOf 'disease has feature' some 'capillary malformation' http://www.orpha.net/ORDO/Orphanet_98203 Combined dystonia 'Combined dystonia' SubClassOf 'Rare genetic dystonia' 'Combined dystonia' SubClassOf 'Rare genetic dystonia' http://www.orpha.net/ORDO/Orphanet_294023 Neonatal inflammatory skin and bowel disease 'Neonatal inflammatory skin and bowel disease' SubClassOf 'Primary immunodeficiency due to a defect in innate immunity' 'Neonatal inflammatory skin and bowel disease' SubClassOf 'hereditary disorder of connective tissue' 'Neonatal inflammatory skin and bowel disease' SubClassOf 'autoinflammatory syndrome' 'Neonatal inflammatory skin and bowel disease' SubClassOf 'inflammatory bowel disease' 'Neonatal inflammatory skin and bowel disease' SubClassOf 'genetic skin disease' 'Neonatal inflammatory skin and bowel disease' SubClassOf 'epidermal disease' http://www.orpha.net/ORDO/Orphanet_294026 2q31.1 microduplication syndrome '2q31.1 microduplication syndrome' SubClassOf 'Partial duplication of the long arm of chromosome 2' '2q31.1 microduplication syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_140908 Brachydactyly type B2 'Brachydactyly type B2' SubClassOf 'Brachydactyly type B' 'Brachydactyly type B2' SubClassOf 'Syndrome with brachydactyly' http://www.orpha.net/ORDO/Orphanet_140905 Hyperlipidemia due to hepatic triglyceride lipase deficiency 'Hyperlipidemia due to hepatic triglyceride lipase deficiency' SubClassOf 'Hyperalphalipoproteinemia' 'Hyperlipidemia due to hepatic triglyceride lipase deficiency' SubClassOf 'Hyperalphalipoproteinemia' http://purl.obolibrary.org/obo/MONDO_0003827 transient hypogammaglobulinemia 'transient hypogammaglobulinemia' SubClassOf 'Syndromic agammaglobulinemia' 'transient hypogammaglobulinemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016463 http://purl.obolibrary.org/obo/MONDO_0003832 complement deficiency 'complement deficiency' SubClassOf 'immunodeficiency disease' 'complement deficiency' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0015817 aggressive primary cutaneous T-cell lymphoma 'aggressive primary cutaneous T-cell lymphoma' SubClassOf 'primary cutaneous T-cell lymphoma' 'aggressive primary cutaneous T-cell lymphoma' SubClassOf 'primary cutaneous T-cell lymphoma' http://purl.obolibrary.org/obo/MONDO_0015816 indolent primary cutaneous T-cell lymphoma 'indolent primary cutaneous T-cell lymphoma' SubClassOf 'primary cutaneous T-cell lymphoma' 'indolent primary cutaneous T-cell lymphoma' SubClassOf 'primary cutaneous T-cell lymphoma' http://www.orpha.net/ORDO/Orphanet_221054 Acrocephalopolydactyly 'Acrocephalopolydactyly' SubClassOf 'Syndromic craniosynostosis' 'Acrocephalopolydactyly' SubClassOf 'Syndromic craniosynostosis' http://www.orpha.net/ORDO/Orphanet_247685 Odontohypophosphatasia 'Odontohypophosphatasia' SubClassOf 'Hypophosphatasia' 'Odontohypophosphatasia' SubClassOf 'Hypophosphatasia' http://purl.obolibrary.org/obo/MONDO_0003837 TSH producing pituitary tumor 'TSH producing pituitary tumor' SubClassOf 'functioning pituitary gland adenoma' 'TSH producing pituitary tumor' SubClassOf 'functioning pituitary gland adenoma' http://www.orpha.net/ORDO/Orphanet_221046 Poikiloderma with neutropenia 'Poikiloderma with neutropenia' SubClassOf 'Hereditary poikiloderma' 'Poikiloderma with neutropenia' SubClassOf 'Constitutional neutropenia' 'Poikiloderma with neutropenia' SubClassOf 'disease has feature' some 'neutropenia' 'Poikiloderma with neutropenia' SubClassOf 'Hereditary poikiloderma' http://www.orpha.net/ORDO/Orphanet_247698 Multiple endocrine neoplasia type 2A 'Multiple endocrine neoplasia type 2A' SubClassOf 'autosomal dominant disease' 'Multiple endocrine neoplasia type 2A' SubClassOf 'Multiple endocrine neoplasia type 2' 'Multiple endocrine neoplasia type 2A' SubClassOf 'Multiple endocrine neoplasia type 2' http://www.orpha.net/ORDO/Orphanet_221043 Hereditary sclerosing poikiloderma with tendon and pulmonary involvement 'Hereditary sclerosing poikiloderma with tendon and pulmonary involvement' SubClassOf 'primary interstitial lung disease specific to adulthood' 'Hereditary sclerosing poikiloderma with tendon and pulmonary involvement' SubClassOf 'Hereditary poikiloderma' 'Hereditary sclerosing poikiloderma with tendon and pulmonary involvement' SubClassOf 'Hereditary poikiloderma' http://www.orpha.net/ORDO/Orphanet_247691 Retinal vasculopathy and cerebral leukodystrophy 'Retinal vasculopathy and cerebral leukodystrophy' SubClassOf 'hereditary disorder of connective tissue' 'Retinal vasculopathy and cerebral leukodystrophy' SubClassOf 'disease has feature' some 'Retinal dystrophy' 'Retinal vasculopathy and cerebral leukodystrophy' SubClassOf 'Basement membrane disease' 'Retinal vasculopathy and cerebral leukodystrophy' SubClassOf 'cerebral small vessel disease' 'Retinal vasculopathy and cerebral leukodystrophy' SubClassOf 'type 1 interferonopathy' 'Retinal vasculopathy and cerebral leukodystrophy' SubClassOf 'retinal vascular disorder' 'Retinal vasculopathy and cerebral leukodystrophy' SubClassOf 'Retinal dystrophy' 'Retinal vasculopathy and cerebral leukodystrophy' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'Retinal vasculopathy and cerebral leukodystrophy' SubClassOf 'Retinal dystrophy' http://www.orpha.net/ORDO/Orphanet_247667 Childhood-onset hypophosphatasia 'Childhood-onset hypophosphatasia' SubClassOf 'Hypophosphatasia' 'Childhood-onset hypophosphatasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0003865 acral lentiginous melanoma 'acral lentiginous melanoma' SubClassOf 'cutaneous melanoma' 'acral lentiginous melanoma' SubClassOf 'cutaneous melanoma' http://www.orpha.net/ORDO/Orphanet_247676 Adult hypophosphatasia 'Adult hypophosphatasia' SubClassOf 'Hypophosphatasia' 'Adult hypophosphatasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_221061 Hereditary cerebral cavernous malformation 'Hereditary cerebral cavernous malformation' SubClassOf 'Genetic neurovascular malformation' 'Hereditary cerebral cavernous malformation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98267 Genetic non-syndromic obesity 'Genetic non-syndromic obesity' EquivalentTo 'Genetic obesity' and ('has modifier' some 'has an isolated presentation') 'Genetic non-syndromic obesity' SubClassOf 'Genetic obesity' 'Genetic non-syndromic obesity' SubClassOf 'has modifier' some 'has an isolated presentation' 'Genetic non-syndromic obesity' SubClassOf 'Genetic obesity' http://www.orpha.net/ORDO/Orphanet_98261 Progressive myoclonic epilepsy 'Progressive myoclonic epilepsy' SubClassOf 'Adolescent-onset epilepsy syndrome' 'Progressive myoclonic epilepsy' SubClassOf 'variable age onset epilepsy' 'Progressive myoclonic epilepsy' SubClassOf 'Childhood-onset epilepsy syndrome' 'Progressive myoclonic epilepsy' SubClassOf 'Adolescent-onset epilepsy syndrome' 'Progressive myoclonic epilepsy' SubClassOf 'Childhood-onset epilepsy syndrome' http://www.orpha.net/ORDO/Orphanet_98260 Adolescent-onset epilepsy syndrome 'Adolescent-onset epilepsy syndrome' SubClassOf 'Epilepsy syndrome' 'Adolescent-onset epilepsy syndrome' SubClassOf 'Epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0001222 congenital T-cell immunodeficiency 'congenital T-cell immunodeficiency' SubClassOf 'T-cell immunodeficiency' 'congenital T-cell immunodeficiency' SubClassOf 'T-cell immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0015864 mixed germ cell tumor 'mixed germ cell tumor' SubClassOf 'Malignant Germ Cell Tumor' 'mixed germ cell tumor' SubClassOf 'Malignant Germ Cell Tumor' http://purl.obolibrary.org/obo/MONDO_0015867 vaginal carcinoma 'vaginal carcinoma' SubClassOf 'vaginal cancer' 'vaginal carcinoma' SubClassOf 'carcinoma' 'vaginal carcinoma' SubClassOf 'vaginal cancer' 'vaginal carcinoma' SubClassOf 'carcinoma' http://www.orpha.net/ORDO/Orphanet_103910 Congenital enterocyte heparan sulfate deficiency 'Congenital enterocyte heparan sulfate deficiency' SubClassOf 'Congenital enteropathy involving intestinal mucosa development' 'Congenital enterocyte heparan sulfate deficiency' SubClassOf 'Congenital enteropathy involving intestinal mucosa development' http://purl.obolibrary.org/obo/MONDO_0003890 infiltrating bladder urothelial carcinoma 'infiltrating bladder urothelial carcinoma' SubClassOf 'bladder transitional cell carcinoma' 'infiltrating bladder urothelial carcinoma' SubClassOf 'bladder transitional cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0003892 acinar lung adenocarcinoma 'acinar lung adenocarcinoma' SubClassOf 'lung adenocarcinoma' 'acinar lung adenocarcinoma' SubClassOf 'lung adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0015879 non-syndromic diaphragmatic or thoracic malformation 'non-syndromic diaphragmatic or thoracic malformation' SubClassOf 'thoracic disorder' 'non-syndromic diaphragmatic or thoracic malformation' SubClassOf 'disorder of development or morphogenesis' http://www.orpha.net/ORDO/Orphanet_103909 Diarrhea-vomiting due to trehalase deficiency 'Diarrhea-vomiting due to trehalase deficiency' SubClassOf 'Disorder of carbohydrate absorption and transport' 'Diarrhea-vomiting due to trehalase deficiency' SubClassOf 'Disorder of carbohydrate absorption and transport' http://www.orpha.net/ORDO/Orphanet_306486 Congenital sucrase-isomaltase deficiency without sucrose intolerance 'Congenital sucrase-isomaltase deficiency without sucrose intolerance' SubClassOf 'Congenital sucrase-isomaltase deficiency' 'Congenital sucrase-isomaltase deficiency without sucrose intolerance' SubClassOf 'Congenital sucrase-isomaltase deficiency' http://www.orpha.net/ORDO/Orphanet_103908 Congenital sodium diarrhea 'Congenital sodium diarrhea' SubClassOf 'congenital diarrhea' 'Congenital sodium diarrhea' SubClassOf 'Congenital intestinal transport defect' 'Congenital sodium diarrhea' SubClassOf 'Congenital intestinal transport defect' http://www.orpha.net/ORDO/Orphanet_103907 Chronic diarrhea due to glucoamylase deficiency 'Chronic diarrhea due to glucoamylase deficiency' SubClassOf 'Disorder of carbohydrate absorption and transport' 'Chronic diarrhea due to glucoamylase deficiency' SubClassOf 'chronic diarrheal disease' 'Chronic diarrhea due to glucoamylase deficiency' SubClassOf 'Disorder of carbohydrate absorption and transport' http://www.orpha.net/ORDO/Orphanet_269008 Isolated focal cortical dysplasia type IIb 'Isolated focal cortical dysplasia type IIb' SubClassOf 'Isolated focal cortical dysplasia type II' 'Isolated focal cortical dysplasia type IIb' SubClassOf 'Isolated focal cortical dysplasia type II' http://www.orpha.net/ORDO/Orphanet_269001 Isolated focal cortical dysplasia type IIa 'Isolated focal cortical dysplasia type IIa' SubClassOf 'Isolated focal cortical dysplasia type II' 'Isolated focal cortical dysplasia type IIa' SubClassOf 'Isolated focal cortical dysplasia type II' http://www.orpha.net/ORDO/Orphanet_306498 PTEN hamartoma tumor syndrome 'PTEN hamartoma tumor syndrome' SubClassOf 'developmental defect during embryogenesis' 'PTEN hamartoma tumor syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'PTEN hamartoma tumor syndrome' SubClassOf 'Malformation syndrome with hamartosis' 'PTEN hamartoma tumor syndrome' SubClassOf 'has modifier' some 'rare' 'PTEN hamartoma tumor syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0013220 hemochromatosis type 2B 'hemochromatosis type 2B' SubClassOf 'Hemochromatosis type 2' 'hemochromatosis type 2B' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019257 http://purl.obolibrary.org/obo/MONDO_0015880 syndromic diaphragmatic or thoracic malformation 'syndromic diaphragmatic or thoracic malformation' SubClassOf 'thoracic disorder' 'syndromic diaphragmatic or thoracic malformation' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0008509 distal symphalangism 'distal symphalangism' SubClassOf 'symphalangism' 'distal symphalangism' SubClassOf 'joint formation defects' http://purl.obolibrary.org/obo/MONDO_0008504 supravalvular aortic stenosis 'supravalvular aortic stenosis' SubClassOf 'aortic stenosis' 'supravalvular aortic stenosis' SubClassOf 'genetic cardiac anomaly' 'supravalvular aortic stenosis' SubClassOf 'aortic malformation' http://purl.obolibrary.org/obo/MONDO_0008501 Sturge-Weber syndrome 'Sturge-Weber syndrome' SubClassOf 'neurocutaneous syndrome' 'Sturge-Weber syndrome' SubClassOf 'disease has feature' some 'neurovascular malformation' 'Sturge-Weber syndrome' SubClassOf 'genetic nervous system disorder' 'Sturge-Weber syndrome' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0008517 syndactyly-polydactyly-ear lobe syndrome 'syndactyly-polydactyly-ear lobe syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0008516 syndactyly type 5 'syndactyly type 5' SubClassOf 'non-syndromic syndactyly' http://purl.obolibrary.org/obo/MONDO_0008515 syndactyly type 4 'syndactyly type 4' SubClassOf 'non-syndromic syndactyly' http://purl.obolibrary.org/obo/MONDO_0008514 syndactyly type 3 'syndactyly type 3' SubClassOf 'non-syndromic syndactyly' http://purl.obolibrary.org/obo/MONDO_0008513 synpolydactyly type 1 'synpolydactyly type 1' SubClassOf 'non-syndromic synpolydactyly' http://purl.obolibrary.org/obo/MONDO_0008512 syndactyly type 1 'syndactyly type 1' SubClassOf 'non-syndromic syndactyly' 'syndactyly type 1' SubClassOf 'partial duplication of the long arm of chromosome 2' http://purl.obolibrary.org/obo/MONDO_0008511 proximal symphalangism 'proximal symphalangism' SubClassOf 'symphalangism' 'proximal symphalangism' SubClassOf 'autosomal dominant disease' 'proximal symphalangism' SubClassOf 'congenital limb malformation' 'proximal symphalangism' SubClassOf 'dysostosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0008510 symphalangism with multiple anomalies of hands and feet 'symphalangism with multiple anomalies of hands and feet' SubClassOf 'congenital limb malformation' 'symphalangism with multiple anomalies of hands and feet' SubClassOf 'dysostosis of genetic origin' 'symphalangism with multiple anomalies of hands and feet' SubClassOf 'symphalangism' http://purl.obolibrary.org/obo/MONDO_0008523 Blau syndrome 'Blau syndrome' SubClassOf 'type II hypersensitivity reaction disease' 'Blau syndrome' SubClassOf 'hereditary disorder of connective tissue' 'Blau syndrome' SubClassOf 'primary immunodeficiency due to a genetic defect in innate immunity' 'Blau syndrome' SubClassOf 'sarcoidosis' http://purl.obolibrary.org/obo/MONDO_0008521 tarsal-carpal coalition syndrome 'tarsal-carpal coalition syndrome' SubClassOf 'dysostosis of genetic origin' 'tarsal-carpal coalition syndrome' SubClassOf 'congenital limb malformation' 'tarsal-carpal coalition syndrome' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0008520 brachydactyly-elbow wrist dysplasia syndrome 'brachydactyly-elbow wrist dysplasia syndrome' SubClassOf 'bone development disease' 'brachydactyly-elbow wrist dysplasia syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008537 telecanthus 'telecanthus' SubClassOf 'canthal anomaly' http://purl.obolibrary.org/obo/MONDO_0008547 thanatophoric dysplasia type 2 'thanatophoric dysplasia type 2' SubClassOf 'genetic disorder' 'thanatophoric dysplasia type 2' SubClassOf 'thanatophoric dysplasia' http://purl.obolibrary.org/obo/MONDO_0008546 thanatophoric dysplasia type 1 'thanatophoric dysplasia type 1' SubClassOf 'thanatophoric dysplasia' 'thanatophoric dysplasia type 1' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0008544 tetramelic monodactyly 'tetramelic monodactyly' SubClassOf 'congenital limb malformation' 'tetramelic monodactyly' SubClassOf 'dysostosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0008540 extensor tendons of finger anomalies 'extensor tendons of finger anomalies' SubClassOf 'congenital limb malformation' 'extensor tendons of finger anomalies' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0008557 Paris-Trousseau thrombocytopenia 'Paris-Trousseau thrombocytopenia' SubClassOf 'partial deletion of the long arm of chromosome 11' 'Paris-Trousseau thrombocytopenia' SubClassOf 'alpha granule disease' http://purl.obolibrary.org/obo/MONDO_0008551 thoracolaryngopelvic dysplasia 'thoracolaryngopelvic dysplasia' SubClassOf 'respiratory malformation' 'thoracolaryngopelvic dysplasia' SubClassOf 'short rib dysplasia' 'thoracolaryngopelvic dysplasia' SubClassOf 'thoracic malformation' http://purl.obolibrary.org/obo/MONDO_0008563 thumb stiffness-brachydactyly-intellectual disability syndrome 'thumb stiffness-brachydactyly-intellectual disability syndrome' SubClassOf 'congenital limb malformation' http://purl.obolibrary.org/obo/MONDO_0008562 thumb deformity-alopecia-pigmentation anomaly syndrome 'thumb deformity-alopecia-pigmentation anomaly syndrome' SubClassOf 'congenital limb malformation' 'thumb deformity-alopecia-pigmentation anomaly syndrome' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0021548 total early-onset cataract 'total early-onset cataract' SubClassOf 'early-onset non-syndromic cataract' http://purl.obolibrary.org/obo/MONDO_0008588 hereditary geniospasm 'hereditary geniospasm' SubClassOf 'has modifier' some 'rare' 'hereditary geniospasm' SubClassOf 'movement disorder' http://purl.obolibrary.org/obo/MONDO_0008582 tooth and nail syndrome 'tooth and nail syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0008592 tricho-dento-osseous syndrome 'tricho-dento-osseous syndrome' SubClassOf 'syndromic hair shaft abnormality' 'tricho-dento-osseous syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant 'Emery-Dreifuss muscular dystrophy 2, autosomal dominant' SubClassOf 'autosomal dominant Emery-Dreifuss muscular dystrophy' 'Emery-Dreifuss muscular dystrophy 2, autosomal dominant' SubClassOf 'disease shares features of' some 'X-linked Emery-Dreifuss muscular dystrophy' 'Emery-Dreifuss muscular dystrophy 2, autosomal dominant' SubClassOf 'muscular dystrophy, limb-girdle, autosomal dominant' http://purl.obolibrary.org/obo/MONDO_0008598 trichodysplasia-xeroderma syndrome 'trichodysplasia-xeroderma syndrome' SubClassOf 'syndromic hair shaft abnormality' http://purl.obolibrary.org/obo/MONDO_0008407 neurogenic scapuloperoneal syndrome, Kaeser type 'neurogenic scapuloperoneal syndrome, Kaeser type' SubClassOf 'hereditary motor neuron disease' 'neurogenic scapuloperoneal syndrome, Kaeser type' SubClassOf 'qualitative or quantitative defects of desmin' http://purl.obolibrary.org/obo/MONDO_0008406 autosomal recessive Emery-Dreifuss muscular dystrophy 'autosomal recessive Emery-Dreifuss muscular dystrophy' SubClassOf 'autosomal recessive disease' 'autosomal recessive Emery-Dreifuss muscular dystrophy' SubClassOf 'Emery-Dreifuss muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0008404 scalp-ear-nipple syndrome 'scalp-ear-nipple syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'scalp-ear-nipple syndrome' SubClassOf 'deficient breast volume or number' 'scalp-ear-nipple syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'scalp-ear-nipple syndrome' SubClassOf 'mixed dermis disorder' http://purl.obolibrary.org/obo/MONDO_0008403 scalp defects-postaxial polydactyly syndrome 'scalp defects-postaxial polydactyly syndrome' SubClassOf 'genetic skin disease' 'scalp defects-postaxial polydactyly syndrome' SubClassOf 'mixed dermis disorder' 'scalp defects-postaxial polydactyly syndrome' SubClassOf 'congenital limb malformation' 'scalp defects-postaxial polydactyly syndrome' SubClassOf 'dysostosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0008402 cleft palate-large ears-small head syndrome 'cleft palate-large ears-small head syndrome' SubClassOf 'orofacial clefting syndrome' http://purl.obolibrary.org/obo/MONDO_0008416 palmoplantar keratoderma-sclerodactyly syndrome 'palmoplantar keratoderma-sclerodactyly syndrome' SubClassOf 'diffuse palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0008411 ulnar-mammary syndrome 'ulnar-mammary syndrome' SubClassOf 'dysostosis of genetic origin' 'ulnar-mammary syndrome' SubClassOf 'congenital limb malformation' 'ulnar-mammary syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'ulnar-mammary syndrome' SubClassOf 'syndromic anorectal malformation' 'ulnar-mammary syndrome' SubClassOf 'deficient breast volume or number' http://purl.obolibrary.org/obo/MONDO_0008410 Scheuermann disease 'Scheuermann disease' SubClassOf 'osteochondrosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0008429 Singleton-Merten dysplasia 'Singleton-Merten dysplasia' SubClassOf 'type 1 interferonopathy' 'Singleton-Merten dysplasia' SubClassOf 'hereditary disorder of connective tissue' http://purl.obolibrary.org/obo/MONDO_0008428 septooptic dysplasia 'septooptic dysplasia' SubClassOf 'combined pituitary hormone deficiencies, genetic form' 'septooptic dysplasia' SubClassOf 'autosomal genetic disease' 'septooptic dysplasia' SubClassOf 'syndromic disease' 'septooptic dysplasia' SubClassOf 'neuro-ophthalmological disease' http://purl.obolibrary.org/obo/MONDO_0008426 Shprintzen-Goldberg syndrome 'Shprintzen-Goldberg syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Shprintzen-Goldberg syndrome' SubClassOf 'syndromic intellectual disability' 'Shprintzen-Goldberg syndrome' SubClassOf 'congenital nervous system disorder' 'Shprintzen-Goldberg syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Shprintzen-Goldberg syndrome' SubClassOf 'syndromic craniosynostosis' 'Shprintzen-Goldberg syndrome' SubClassOf 'genetic nervous system disorder' 'Shprintzen-Goldberg syndrome' SubClassOf 'Marfan and Marfan-related disorder' http://purl.obolibrary.org/obo/MONDO_0008425 omphalocele syndrome, Shprintzen-Goldberg type 'omphalocele syndrome, Shprintzen-Goldberg type' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'omphalocele syndrome, Shprintzen-Goldberg type' SubClassOf 'syndromic intellectual disability' 'omphalocele syndrome, Shprintzen-Goldberg type' SubClassOf 'congenital nervous system disorder' 'omphalocele syndrome, Shprintzen-Goldberg type' SubClassOf 'syndromic diaphragmatic or abdominal wall malformation' http://purl.obolibrary.org/obo/MONDO_0008439 spastic paraplegia-epilepsy-intellectual disability syndrome 'spastic paraplegia-epilepsy-intellectual disability syndrome' SubClassOf 'autosomal dominant complex spastic paraplegia' '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_0008438 hereditary spastic paraplegia 4 'hereditary spastic paraplegia 4' SubClassOf 'pure or complex autosomal dominant spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0008437 hereditary spastic paraplegia 3A 'hereditary spastic paraplegia 3A' SubClassOf 'pure or complex autosomal dominant spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0008434 Smith-Magenis syndrome 'Smith-Magenis syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Smith-Magenis syndrome' SubClassOf 'syndromic genetic obesity' 'Smith-Magenis syndrome' SubClassOf 'congenital nervous system disorder' 'Smith-Magenis syndrome' SubClassOf 'chromosome 17p deletion' 'Smith-Magenis syndrome' SubClassOf 'syndromic intellectual disability' 'Smith-Magenis syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Smith-Magenis syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0008448 spheroid body myopathy 'spheroid body myopathy' SubClassOf 'myofibrillar myopathy 3' 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 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '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_0008443 spastic paraplegia-precocious puberty syndrome 'spastic paraplegia-precocious puberty syndrome' SubClassOf 'autosomal dominant complex spastic paraplegia' 'spastic paraplegia-precocious puberty syndrome' SubClassOf 'disease has feature' some 'precocious puberty' http://purl.obolibrary.org/obo/MONDO_0008442 spastic paraplegia-neuropathy-poikiloderma syndrome 'spastic paraplegia-neuropathy-poikiloderma syndrome' SubClassOf 'autosomal dominant complex spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0008440 spastic paraplegia-nephritis-deafness syndrome 'spastic paraplegia-nephritis-deafness syndrome' SubClassOf 'syndromic genetic hearing loss' 'spastic paraplegia-nephritis-deafness syndrome' SubClassOf 'intellectual disability, autosomal dominant' 'spastic paraplegia-nephritis-deafness syndrome' SubClassOf 'syndromic urogenital tract malformation' 'spastic paraplegia-nephritis-deafness syndrome' SubClassOf 'syndromic renal or urinary tract malformation' 'spastic paraplegia-nephritis-deafness syndrome' SubClassOf 'autosomal dominant complex spastic paraplegia' 'spastic paraplegia-nephritis-deafness syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008458 spinocerebellar ataxia type 2 'spinocerebellar ataxia type 2' SubClassOf 'autosomal dominant cerebellar ataxia type I' 'spinocerebellar ataxia type 2' SubClassOf 'Huntington disease-like syndrome' 'spinocerebellar ataxia type 2' SubClassOf 'familial amyotrophic lateral sclerosis' http://purl.obolibrary.org/obo/MONDO_0008457 spinocerebellar ataxia type 6 'spinocerebellar ataxia type 6' SubClassOf 'autosomal dominant cerebellar ataxia type III' http://purl.obolibrary.org/obo/MONDO_0008453 adult-onset proximal spinal muscular atrophy, autosomal dominant 'adult-onset proximal spinal muscular atrophy, autosomal dominant' SubClassOf 'autosomal dominant proximal spinal muscular atrophy' http://purl.obolibrary.org/obo/MONDO_0008451 neuronopathy, distal hereditary motor, type 1 'neuronopathy, distal hereditary motor, type 1' SubClassOf 'neuronopathy, distal hereditary motor' 'neuronopathy, distal hereditary motor, type 1' SubClassOf 'Charcot-Marie-Tooth disease' 'neuronopathy, distal hereditary motor, type 1' SubClassOf 'autosomal dominant distal hereditary motor neuropathy' http://purl.obolibrary.org/obo/MONDO_0008460 splenogonadal fusion-limb defects-micrognathia syndrome 'splenogonadal fusion-limb defects-micrognathia syndrome' SubClassOf 'syndromic visceral malformation' 'splenogonadal fusion-limb defects-micrognathia syndrome' SubClassOf 'congenital limb malformation' 'splenogonadal fusion-limb defects-micrognathia syndrome' SubClassOf 'branchial arch or oral-acral syndrome' 'splenogonadal fusion-limb defects-micrognathia syndrome' SubClassOf 'dysostosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0008469 spondyloepimetaphyseal dysplasia-hypotrichosis syndrome 'spondyloepimetaphyseal dysplasia-hypotrichosis syndrome' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0008467 Czeizel-Losonci syndrome 'Czeizel-Losonci syndrome' SubClassOf 'congenital nervous system disorder' 'Czeizel-Losonci syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Czeizel-Losonci syndrome' SubClassOf 'genetic nervous system disorder' 'Czeizel-Losonci syndrome' SubClassOf 'syndromic intellectual disability' 'Czeizel-Losonci syndrome' SubClassOf 'syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0008466 Karsch-Neugebauer syndrome 'Karsch-Neugebauer syndrome' SubClassOf 'congenital limb malformation' 'Karsch-Neugebauer syndrome' SubClassOf 'dysostosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0008465 Patterson-Stevenson-Fontaine syndrome 'Patterson-Stevenson-Fontaine syndrome' SubClassOf 'acrofacial dysostosis' 'Patterson-Stevenson-Fontaine syndrome' SubClassOf 'branchial arch or oral-acral syndrome' http://purl.obolibrary.org/obo/MONDO_0008471 spondyloepiphyseal dysplasia congenita 'spondyloepiphyseal dysplasia congenita' SubClassOf 'hereditary disorder of connective tissue' 'spondyloepiphyseal dysplasia congenita' SubClassOf 'type 2 collagenopathy' 'spondyloepiphyseal dysplasia congenita' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0008479 spondylometaphyseal dysplasia, 'corner fracture' type 'spondylometaphyseal dysplasia, 'corner fracture' type' SubClassOf 'spondylometaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0008478 spondylometaphyseal dysplasia, Schmidt type 'spondylometaphyseal dysplasia, Schmidt type' SubClassOf 'spondylometaphyseal dysplasia' 'spondylometaphyseal dysplasia, Schmidt type' SubClassOf 'type 2 collagenopathy' 'spondylometaphyseal dysplasia, Schmidt type' SubClassOf 'hereditary disorder of connective tissue' http://purl.obolibrary.org/obo/MONDO_0008477 spondylometaphyseal dysplasia, Kozlowski type 'spondylometaphyseal dysplasia, Kozlowski type' SubClassOf 'TRPV4-related bone disorder' 'spondylometaphyseal dysplasia, Kozlowski type' SubClassOf 'spondylometaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0008476 spondyloepimetaphyseal dysplasia, Strudwick type 'spondyloepimetaphyseal dysplasia, Strudwick type' SubClassOf 'hereditary disorder of connective tissue' 'spondyloepimetaphyseal dysplasia, Strudwick type' SubClassOf 'spondyloepiphyseal dysplasia' 'spondyloepimetaphyseal dysplasia, Strudwick type' SubClassOf 'spondylometaphyseal dysplasia' 'spondyloepimetaphyseal dysplasia, Strudwick type' SubClassOf 'disease has feature' some 'scoliosis' 'spondyloepimetaphyseal dysplasia, Strudwick type' SubClassOf 'type 2 collagenopathy' http://purl.obolibrary.org/obo/MONDO_0008473 spondyloepimetaphyseal dysplasia, Maroteaux type 'spondyloepimetaphyseal dysplasia, Maroteaux type' SubClassOf 'TRPV4-related bone disorder' 'spondyloepimetaphyseal dysplasia, Maroteaux type' SubClassOf 'genetic disorder' 'spondyloepimetaphyseal dysplasia, Maroteaux type' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0008472 spondyloepiphyseal dysplasia, MacDermot type 'spondyloepiphyseal dysplasia, MacDermot type' SubClassOf 'syndromic genetic hearing loss' 'spondyloepiphyseal dysplasia, MacDermot type' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0008488 holoprosencephaly-radial heart renal anomalies syndrome 'holoprosencephaly-radial heart renal anomalies syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'holoprosencephaly-radial heart renal anomalies syndrome' SubClassOf 'syndromic renal or urinary tract malformation' 'holoprosencephaly-radial heart renal anomalies syndrome' SubClassOf 'congenital nervous system disorder' 'holoprosencephaly-radial heart renal anomalies syndrome' SubClassOf 'syndromic urogenital tract malformation' 'holoprosencephaly-radial heart renal anomalies syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008486 steatocystoma multiplex-natal teeth syndrome 'steatocystoma multiplex-natal teeth syndrome' SubClassOf 'genetic sebaceous gland anomaly' 'steatocystoma multiplex-natal teeth syndrome' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0008485 sebocystomatosis 'sebocystomatosis' SubClassOf 'genetic sebaceous gland anomaly' http://purl.obolibrary.org/obo/MONDO_0008484 stapes ankylosis with broad thumbs and toes 'stapes ankylosis with broad thumbs and toes' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0008493 overhydrated hereditary stomatocytosis 'overhydrated hereditary stomatocytosis' SubClassOf 'hereditary stomatocytosis' http://purl.obolibrary.org/obo/MONDO_0008492 stiff skin syndrome 'stiff skin syndrome' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant 'otospondylomegaepiphyseal dysplasia, autosomal dominant' SubClassOf 'genetic syndromic Pierre Robin syndrome' 'otospondylomegaepiphyseal dysplasia, autosomal dominant' SubClassOf 'genetic otorhinolaryngologic disease' 'otospondylomegaepiphyseal dysplasia, autosomal dominant' SubClassOf 'disease has feature' some 'collagenopathy' 'otospondylomegaepiphyseal dysplasia, autosomal dominant' SubClassOf 'syndromic genetic hearing loss' 'otospondylomegaepiphyseal dysplasia, autosomal dominant' SubClassOf 'orofacial clefting syndrome' 'otospondylomegaepiphyseal dysplasia, autosomal dominant' SubClassOf 'otospondylomegaepiphyseal dysplasia' 'otospondylomegaepiphyseal dysplasia, autosomal dominant' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'otospondylomegaepiphyseal dysplasia, autosomal dominant' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0008499 short stature-wormian bones-dextrocardia syndrome 'short stature-wormian bones-dextrocardia syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0008497 Stormorken syndrome 'Stormorken syndrome' SubClassOf 'syndromic constitutional thrombocytopenia' http://purl.obolibrary.org/obo/MONDO_0008494 cryohydrocytosis 'cryohydrocytosis' SubClassOf 'hereditary stomatocytosis' http://purl.obolibrary.org/obo/MONDO_0011909 Charcot-Marie-Tooth disease dominant intermediate D 'Charcot-Marie-Tooth disease dominant intermediate D' SubClassOf 'autosomal dominant intermediate Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0011906 congenital bile acid synthesis defect 1 'congenital bile acid synthesis defect 1' SubClassOf 'Congenital bile acid synthesis defect' http://purl.obolibrary.org/obo/MONDO_0011907 acrocapitofemoral dysplasia 'acrocapitofemoral dysplasia' SubClassOf 'acromelic dysplasia' 'acrocapitofemoral dysplasia' SubClassOf 'osteochondrodysplasia' 'acrocapitofemoral dysplasia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0011901 Charcot-Marie-Tooth disease axonal type 2H 'Charcot-Marie-Tooth disease axonal type 2H' SubClassOf 'autosomal recessive axonal hereditary motor and sensory neuropathy' 'Charcot-Marie-Tooth disease axonal type 2H' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://purl.obolibrary.org/obo/MONDO_0011905 obsolete familial hypercholanemia 'obsolete familial hypercholanemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0011902 Charcot-Marie-Tooth disease type 1F 'Charcot-Marie-Tooth disease type 1F' SubClassOf 'Charcot-Marie-Tooth disease type 1' http://purl.obolibrary.org/obo/MONDO_0011903 Charcot-Marie-Tooth disease type 2J 'Charcot-Marie-Tooth disease type 2J' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'Charcot-Marie-Tooth disease type 2J' SubClassOf 'Charcot-Marie-Tooth disease dominant intermediate D' http://purl.obolibrary.org/obo/MONDO_0011911 craniolenticulosutural dysplasia 'craniolenticulosutural dysplasia' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0011916 Charcot-Marie-Tooth disease axonal type 2K 'Charcot-Marie-Tooth disease axonal type 2K' SubClassOf 'autosomal recessive axonal hereditary motor and sensory neuropathy' 'Charcot-Marie-Tooth disease axonal type 2K' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://purl.obolibrary.org/obo/MONDO_0011928 caudal duplication 'caudal duplication' SubClassOf 'genetic disorder' 'caudal duplication' SubClassOf 'syndromic anorectal malformation' http://purl.obolibrary.org/obo/MONDO_0011929 chromosome 1p36 deletion syndrome 'chromosome 1p36 deletion syndrome' SubClassOf 'partial deletion of the short arm of chromosome 1' http://purl.obolibrary.org/obo/MONDO_0011927 tufted angioma 'tufted angioma' SubClassOf 'has modifier' some 'rare' 'tufted angioma' SubClassOf 'skin hemangioma' http://purl.obolibrary.org/obo/MONDO_0011925 congenital merosin-deficient muscular dystrophy 1A 'congenital merosin-deficient muscular dystrophy 1A' SubClassOf 'congenital muscular dystrophy' 'congenital merosin-deficient muscular dystrophy 1A' SubClassOf 'LAMA2-related muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0011939 Spondyloenchondrodysplasia with immune dysregulation 'Spondyloenchondrodysplasia with immune dysregulation' SubClassOf 'spondylometaphyseal dysplasia' 'Spondyloenchondrodysplasia with immune dysregulation' SubClassOf 'type 1 interferonopathy' 'Spondyloenchondrodysplasia with immune dysregulation' SubClassOf 'hereditary disorder of connective tissue' http://purl.obolibrary.org/obo/MONDO_0011933 ALG2-CDG 'ALG2-CDG' SubClassOf 'disorder of protein N-glycosylation' 'ALG2-CDG' SubClassOf 'congenital disorder of glycosylation type I' 'ALG2-CDG' SubClassOf 'neurometabolic disease' 'ALG2-CDG' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0011934 dermatofibrosarcoma protuberans 'dermatofibrosarcoma protuberans' SubClassOf 'inherited soft tissue tumor' 'dermatofibrosarcoma protuberans' SubClassOf 'Skin Sarcoma' 'dermatofibrosarcoma protuberans' SubClassOf 'hereditary disorder of connective tissue' 'dermatofibrosarcoma protuberans' SubClassOf 'fibrosarcoma' 'dermatofibrosarcoma protuberans' SubClassOf 'inherited skin tumor' http://purl.obolibrary.org/obo/MONDO_0011936 microphthalmia with brain and digit anomalies 'microphthalmia with brain and digit anomalies' SubClassOf 'syndromic microphthalmia' http://purl.obolibrary.org/obo/MONDO_0011945 Gaucher disease perinatal lethal 'Gaucher disease perinatal lethal' SubClassOf 'Gaucher disease' 'Gaucher disease perinatal lethal' SubClassOf 'autosomal ichthyosis syndrome' 'Gaucher disease perinatal lethal' SubClassOf 'syndromic dyslipidemia' http://purl.obolibrary.org/obo/MONDO_0011948 pontocerebellar hypoplasia type 3 'pontocerebellar hypoplasia type 3' SubClassOf 'pontocerebellar hypoplasia' http://purl.obolibrary.org/obo/MONDO_0011946 diaphanospondylodysostosis 'diaphanospondylodysostosis' SubClassOf 'spondylodysplastic dysplasia' 'diaphanospondylodysostosis' SubClassOf 'dysostosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0008306 ABri amyloidosis 'ABri amyloidosis' SubClassOf 'cerebral amyloid angiopathy' 'ABri amyloidosis' SubClassOf 'ITM2B amyloidosis' http://purl.obolibrary.org/obo/MONDO_0008305 Currarino triad 'Currarino triad' SubClassOf 'syndromic anorectal malformation' 'Currarino triad' SubClassOf 'dysostosis of genetic origin' 'Currarino triad' SubClassOf 'syndromic uterovaginal malformation' http://purl.obolibrary.org/obo/MONDO_0008301 Guttmacher syndrome 'Guttmacher syndrome' SubClassOf 'genetic disorder' 'Guttmacher syndrome' SubClassOf 'syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0011953 familial acute necrotizing encephalopathy 'familial acute necrotizing encephalopathy' SubClassOf 'encephalopathy, acute, infection-induced' http://purl.obolibrary.org/obo/MONDO_0008300 Prader-Willi syndrome 'Prader-Willi syndrome' SubClassOf 'chromosomal disorder' 'Prader-Willi syndrome' SubClassOf 'complex neurodevelopmental disorder' 'Prader-Willi syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Prader-Willi syndrome' SubClassOf 'syndromic genetic obesity' 'Prader-Willi syndrome' SubClassOf 'congenital hypogonadotropic hypogonadism' http://purl.obolibrary.org/obo/MONDO_0011957 retinal macular dystrophy type 2 'retinal macular dystrophy type 2' SubClassOf 'genetic macular dystrophy' http://purl.obolibrary.org/obo/MONDO_0011950 infantile-onset autosomal recessive nonprogressive cerebellar ataxia 'infantile-onset autosomal recessive nonprogressive cerebellar ataxia' SubClassOf 'autosomal recessive cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0008318 Proteus syndrome 'Proteus syndrome' SubClassOf 'genetic vascular anomaly' 'Proteus syndrome' SubClassOf 'PTEN hamartoma tumor syndrome' 'Proteus syndrome' SubClassOf 'overgrowth syndrome' http://purl.obolibrary.org/obo/MONDO_0008312 autosomal dominant prognathism 'autosomal dominant prognathism' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0011964 DPAGT1-CDG 'DPAGT1-CDG' SubClassOf 'congenital nervous system disorder' 'DPAGT1-CDG' SubClassOf 'disorder of protein N-glycosylation' 'DPAGT1-CDG' SubClassOf 'congenital disorder of glycosylation type I' 'DPAGT1-CDG' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0008311 progeria-short stature-pigmented nevi syndrome 'progeria-short stature-pigmented nevi syndrome' SubClassOf 'progeroid syndrome' http://purl.obolibrary.org/obo/MONDO_0011965 familial temporal lobe epilepsy 2 'familial temporal lobe epilepsy 2' SubClassOf 'temporal lobe epilepsy' http://purl.obolibrary.org/obo/MONDO_0008310 Hutchinson-Gilford progeria syndrome 'Hutchinson-Gilford progeria syndrome' SubClassOf 'progeria' 'Hutchinson-Gilford progeria syndrome' SubClassOf 'autosomal recessive disease' 'Hutchinson-Gilford progeria syndrome' SubClassOf 'laminopathy' 'Hutchinson-Gilford progeria syndrome' SubClassOf 'primary osteolysis' 'Hutchinson-Gilford progeria syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0011968 autosomal recessive limb-girdle muscular dystrophy type 2D 'autosomal recessive limb-girdle muscular dystrophy type 2D' SubClassOf 'familial dilated cardiomyopathy' 'autosomal recessive limb-girdle muscular dystrophy type 2D' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' 'autosomal recessive limb-girdle muscular dystrophy type 2D' SubClassOf 'qualitative or quantitative defects of alpha-sarcoglycan' http://purl.obolibrary.org/obo/MONDO_0011969 ALG8-CDG 'ALG8-CDG' SubClassOf 'congenital nervous system disorder' 'ALG8-CDG' SubClassOf 'neurometabolic disease' 'ALG8-CDG' SubClassOf 'disorder of protein N-glycosylation' 'ALG8-CDG' SubClassOf 'congenital disorder of glycosylation type I' 'ALG8-CDG' SubClassOf 'nephropathy secondary to a storage or other metabolic disease' http://purl.obolibrary.org/obo/MONDO_0011961 hereditary sensory and autonomic neuropathy type 1B 'hereditary sensory and autonomic neuropathy type 1B' SubClassOf 'hereditary sensory and autonomic neuropathy type 1' http://purl.obolibrary.org/obo/MONDO_0008329 autosomal dominant pseudohypoaldosteronism type 1 'autosomal dominant pseudohypoaldosteronism type 1' SubClassOf 'pseudohypoaldosteronism type 1' http://purl.obolibrary.org/obo/MONDO_0011977 8q22.1 microdeletion syndrome '8q22.1 microdeletion syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' '8q22.1 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 8' http://purl.obolibrary.org/obo/MONDO_0008323 Liddle syndrome 'Liddle syndrome' SubClassOf 'genetic hypertension' 'Liddle syndrome' SubClassOf 'syndromic disease' 'Liddle syndrome' SubClassOf 'renal tubular transport disease' http://purl.obolibrary.org/obo/MONDO_0011975 paternal uniparental disomy of chromosome 14 'paternal uniparental disomy of chromosome 14' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'paternal uniparental disomy of chromosome 14' SubClassOf 'multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' 'paternal uniparental disomy of chromosome 14' SubClassOf 'chromosome 14 disorder' 'paternal uniparental disomy of chromosome 14' SubClassOf 'genetic nervous system disorder' 'paternal uniparental disomy of chromosome 14' SubClassOf 'uniparental disomy' http://purl.obolibrary.org/obo/MONDO_0008322 pseudoachondroplasia 'pseudoachondroplasia' SubClassOf 'multiple epiphyseal dysplasia and pseudoachondroplasia' 'pseudoachondroplasia' SubClassOf 'osteochondrodysplasia' 'pseudoachondroplasia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0011976 lipodystrophy-intellectual disability-deafness syndrome 'lipodystrophy-intellectual disability-deafness syndrome' SubClassOf 'progeroid syndrome' 'lipodystrophy-intellectual disability-deafness syndrome' SubClassOf 'syndromic genetic hearing loss' 'lipodystrophy-intellectual disability-deafness syndrome' SubClassOf 'genetic lipodystrophy' 'lipodystrophy-intellectual disability-deafness syndrome' SubClassOf 'developmental anomaly of metabolic origin' http://purl.obolibrary.org/obo/MONDO_0011979 adult-onset foveomacular vitelliform dystrophy 'adult-onset foveomacular vitelliform dystrophy' SubClassOf 'vitelliform macular dystrophy' http://purl.obolibrary.org/obo/MONDO_0011970 rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome 'rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome' SubClassOf 'childhood-onset epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0011971 hyper-IgM syndrome type 5 'hyper-IgM syndrome type 5' SubClassOf 'hyper-IgM syndrome without susceptibility to opportunistic infections' http://purl.obolibrary.org/obo/MONDO_0011972 ovarian hyperstimulation syndrome 'ovarian hyperstimulation syndrome' SubClassOf 'has modifier' some 'rare' 'ovarian hyperstimulation syndrome' SubClassOf 'ovarian disease' 'ovarian hyperstimulation syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008339 antecubital pterygium syndrome 'antecubital pterygium syndrome' SubClassOf 'dermis disorder' http://purl.obolibrary.org/obo/MONDO_0008338 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A 'contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A' SubClassOf 'autosomal dominant disease' 'contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A' SubClassOf 'distal arthrogryposis' 'contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A' SubClassOf 'contractures, pterygia, and variable skeletal fusions syndrome' http://purl.obolibrary.org/obo/MONDO_0008337 familial pterygium of the conjunctiva 'familial pterygium of the conjunctiva' EquivalentTo 'pterygium' and ('has modifier' some 'inherited') 'familial pterygium of the conjunctiva' SubClassOf 'Benign Conjunctival Neoplasm' 'familial pterygium of the conjunctiva' SubClassOf 'benign neoplasm of cornea' http://purl.obolibrary.org/obo/MONDO_0011988 neutrophil immunodeficiency syndrome 'neutrophil immunodeficiency syndrome' SubClassOf 'functional neutrophil defect' 'neutrophil immunodeficiency syndrome' SubClassOf 'T-B- severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0008335 short stature-craniofacial anomalies-genital hypoplasia syndrome 'short stature-craniofacial anomalies-genital hypoplasia syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008332 pseudo-von Willebrand disease 'pseudo-von Willebrand disease' SubClassOf 'inherited bleeding disorder, platelet-type' 'pseudo-von Willebrand disease' SubClassOf 'hereditary von Willebrand disease' http://purl.obolibrary.org/obo/MONDO_0011984 synpolydactyly type 2 'synpolydactyly type 2' SubClassOf 'non-syndromic synpolydactyly' http://purl.obolibrary.org/obo/MONDO_0011985 hyper-IgM syndrome type 4 'hyper-IgM syndrome type 4' SubClassOf 'hyper-IgM syndrome without susceptibility to opportunistic infections' http://purl.obolibrary.org/obo/MONDO_0008347 idiopathic and/or familial pulmonary arterial hypertension 'idiopathic and/or familial pulmonary arterial hypertension' SubClassOf 'primary pulmonary hypertension' 'idiopathic and/or familial pulmonary arterial hypertension' SubClassOf 'pulmonary arterial hypertension' 'idiopathic and/or familial pulmonary arterial hypertension' SubClassOf 'idiopathic disease' http://purl.obolibrary.org/obo/MONDO_0011997 Hermansky-Pudlak syndrome 2 'Hermansky-Pudlak syndrome 2' SubClassOf 'genetic hemophagocytic lymphohistiocytosis' 'Hermansky-Pudlak syndrome 2' SubClassOf 'Hermansky-Pudlak syndrome' 'Hermansky-Pudlak syndrome 2' SubClassOf 'constitutional neutropenia' http://purl.obolibrary.org/obo/MONDO_0011998 autosomal dominant slowed nerve conduction velocity 'autosomal dominant slowed nerve conduction velocity' SubClassOf 'autosomal dominant hereditary demyelinating motor and sensory neuropathy' http://purl.obolibrary.org/obo/MONDO_0008341 ptosis-strabismus-ectopic pupils syndrome 'ptosis-strabismus-ectopic pupils syndrome' SubClassOf 'eyelids malposition disorder' http://purl.obolibrary.org/obo/MONDO_0008340 congenital ptosis 'congenital ptosis' SubClassOf 'ptosis' 'congenital ptosis' SubClassOf 'genetic disorder' 'congenital ptosis' SubClassOf 'eyelids malposition disorder' http://purl.obolibrary.org/obo/MONDO_0011992 hereditary spastic paraplegia 25 'hereditary spastic paraplegia 25' SubClassOf 'autosomal recessive complex spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0011995 cataract - congenital heart disease - neural tube defect syndrome 'cataract - congenital heart disease - neural tube defect syndrome' SubClassOf 'disorder of development or morphogenesis' 'cataract - congenital heart disease - neural tube defect syndrome' SubClassOf 'syndromic cataract' 'cataract - congenital heart disease - neural tube defect syndrome' SubClassOf 'has modifier' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0008359 radio-renal syndrome 'radio-renal syndrome' SubClassOf 'congenital limb malformation' 'radio-renal syndrome' SubClassOf 'dysostosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0008357 radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome 'radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome' SubClassOf 'syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0008369 proximal renal tubular acidosis 'proximal renal tubular acidosis' SubClassOf 'renal tubular acidosis' 'proximal renal tubular acidosis' SubClassOf 'primary renal tubular acidosis' 'proximal renal tubular acidosis' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0008368 autosomal dominant distal renal tubular acidosis 'autosomal dominant distal renal tubular acidosis' SubClassOf 'autosomal dominant disease' 'autosomal dominant distal renal tubular acidosis' SubClassOf 'distal renal tubular acidosis' http://purl.obolibrary.org/obo/MONDO_0008365 recombinant 8 syndrome 'recombinant 8 syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008371 Dowling-Degos disease 'Dowling-Degos disease' SubClassOf 'has modifier' some 'rare' 'Dowling-Degos disease' SubClassOf 'disorder of fucoglycosan synthesis' 'Dowling-Degos disease' SubClassOf 'reticulate pigment disorder' 'Dowling-Degos disease' SubClassOf 'hyperpigmentation of the skin' http://purl.obolibrary.org/obo/MONDO_0008373 retinal arterial tortuosity 'retinal arterial tortuosity' SubClassOf 'genetic disorder' 'retinal arterial tortuosity' SubClassOf 'arterial disorder' http://purl.obolibrary.org/obo/MONDO_0008380 retinoblastoma 'retinoblastoma' SubClassOf 'retinal cell cancer' http://purl.obolibrary.org/obo/MONDO_0008389 autosomal dominant Robinow syndrome 'autosomal dominant Robinow syndrome' SubClassOf 'intellectual disability, autosomal dominant' 'autosomal dominant Robinow syndrome' SubClassOf 'Robinow syndrome' http://purl.obolibrary.org/obo/MONDO_0008388 ringed hair disease 'ringed hair disease' SubClassOf 'isolated genetic hair shaft abnormality' http://purl.obolibrary.org/obo/MONDO_0008394 Silver-Russell syndrome 'Silver-Russell syndrome' SubClassOf 'chromosomal disorder' 'Silver-Russell syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0008393 Rubinstein-Taybi syndrome due to CREBBP mutations 'Rubinstein-Taybi syndrome due to CREBBP mutations' SubClassOf 'Rubinstein-Taybi syndrome' http://purl.obolibrary.org/obo/MONDO_0008392 Roussy-Levy syndrome 'Roussy-Levy syndrome' SubClassOf 'autosomal dominant hereditary demyelinating motor and sensory neuropathy' http://purl.obolibrary.org/obo/MONDO_0008390 Rombo syndrome 'Rombo syndrome' SubClassOf 'inherited skin tumor' http://purl.obolibrary.org/obo/MONDO_0008397 aplasia of lacrimal and salivary glands 'aplasia of lacrimal and salivary glands' SubClassOf 'excretory apparatus of the lacrimal system anomaly' 'aplasia of lacrimal and salivary glands' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008396 oculodental syndrome, Rutherfurd type 'oculodental syndrome, Rutherfurd type' SubClassOf 'disorder of development or morphogenesis' 'oculodental syndrome, Rutherfurd type' SubClassOf 'syndromic corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0008395 Ruvalcaba syndrome 'Ruvalcaba syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Ruvalcaba syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Ruvalcaba syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Ruvalcaba syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0011801 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 'spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1' SubClassOf 'spinocerebellar ataxia, autosomal recessive, with axonal neuropathy' 'spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1' SubClassOf 'genetic peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0011803 hereditary spastic paraplegia 7 'hereditary spastic paraplegia 7' SubClassOf 'syndromic hereditary optic neuropathy' 'hereditary spastic paraplegia 7' SubClassOf 'mitochondrial oxidative phosphorylation disorder' 'hereditary spastic paraplegia 7' SubClassOf 'pure or complex autosomal recessive spastic paraplegia' 'hereditary spastic paraplegia 7' SubClassOf 'eye degenerative disorder' 'hereditary spastic paraplegia 7' SubClassOf 'complex hereditary spastic paraplegia' 'hereditary spastic paraplegia 7' SubClassOf 'facial paralysis' 'hereditary spastic paraplegia 7' SubClassOf 'hereditary ataxia' http://purl.obolibrary.org/obo/MONDO_0011804 autoimmune lymphoproliferative syndrome type 2B 'autoimmune lymphoproliferative syndrome type 2B' SubClassOf 'autoimmune lymphoproliferative syndrome' http://purl.obolibrary.org/obo/MONDO_0011818 isolated focal cortical dysplasia type II 'isolated focal cortical dysplasia type II' SubClassOf 'isolated focal cortical dysplasia' http://purl.obolibrary.org/obo/MONDO_0011819 spinocerebellar ataxia type 19/22 'spinocerebellar ataxia type 19/22' SubClassOf 'autosomal dominant cerebellar ataxia type I' http://purl.obolibrary.org/obo/MONDO_0011812 Duane-radial ray syndrome 'Duane-radial ray syndrome' SubClassOf 'dysostosis of genetic origin' 'Duane-radial ray syndrome' SubClassOf 'congenital limb malformation' 'Duane-radial ray syndrome' SubClassOf 'autosomal dominant disease' 'Duane-radial ray syndrome' SubClassOf 'neuro-ophthalmological disease' 'Duane-radial ray syndrome' SubClassOf 'syndromic anorectal malformation' http://purl.obolibrary.org/obo/MONDO_0011810 horizontal gaze palsy with progressive scoliosis 'horizontal gaze palsy with progressive scoliosis' SubClassOf 'neuro-ophthalmological disease' 'horizontal gaze palsy with progressive scoliosis' SubClassOf 'disorder of development or morphogenesis' 'horizontal gaze palsy with progressive scoliosis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome 'autosomal recessive cerebellar ataxia-saccadic intrusion syndrome' SubClassOf 'autosomal recessive syndromic cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0011816 lathosterolosis 'lathosterolosis' SubClassOf 'cholesterol biosynthetic process disease' http://purl.obolibrary.org/obo/MONDO_0011823 developmental malformations-deafness-dystonia syndrome 'developmental malformations-deafness-dystonia syndrome' SubClassOf 'inherited dystonia' 'developmental malformations-deafness-dystonia syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'developmental malformations-deafness-dystonia syndrome' SubClassOf 'congenital nervous system disorder' 'developmental malformations-deafness-dystonia syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0011822 Bartter disease type 3 'Bartter disease type 3' SubClassOf 'Bartter syndrome' http://purl.obolibrary.org/obo/MONDO_0011834 spinocerebellar ataxia type 18 'spinocerebellar ataxia type 18' SubClassOf 'autosomal dominant cerebellar ataxia type I' http://purl.obolibrary.org/obo/MONDO_0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 'sensory ataxic neuropathy, dysarthria, and ophthalmoparesis' SubClassOf 'genetic peripheral neuropathy' 'sensory ataxic neuropathy, dysarthria, and ophthalmoparesis' SubClassOf 'ataxia neuropathy spectrum' 'sensory ataxic neuropathy, dysarthria, and ophthalmoparesis' SubClassOf 'progressive myoclonus epilepsy' 'sensory ataxic neuropathy, dysarthria, and ophthalmoparesis' SubClassOf 'inborn mitochondrial myopathy' 'sensory ataxic neuropathy, dysarthria, and ophthalmoparesis' SubClassOf 'metabolic epilepsy' http://purl.obolibrary.org/obo/MONDO_0011833 spinocerebellar ataxia type 21 'spinocerebellar ataxia type 21' SubClassOf 'autosomal dominant cerebellar ataxia type I' http://purl.obolibrary.org/obo/MONDO_0011838 Bothnia retinal dystrophy 'Bothnia retinal dystrophy' SubClassOf 'RLBP1-related retinopathy' http://purl.obolibrary.org/obo/MONDO_0011830 lissencephaly due to LIS1 mutation 'lissencephaly due to LIS1 mutation' SubClassOf 'classic lissencephaly' http://purl.obolibrary.org/obo/MONDO_0011841 biotin-responsive basal ganglia disease 'biotin-responsive basal ganglia disease' SubClassOf 'basal ganglia disease' 'biotin-responsive basal ganglia disease' SubClassOf 'thiamine-responsive dysfunction syndrome' 'biotin-responsive basal ganglia disease' SubClassOf 'neurometabolic disease' 'biotin-responsive basal ganglia disease' SubClassOf 'toxic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0008209 Char syndrome 'Char syndrome' SubClassOf 'neurovascular disorder' 'Char syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Char syndrome' SubClassOf 'eyelids malposition disorder' 'Char syndrome' SubClassOf 'familial patent arterial duct' http://purl.obolibrary.org/obo/MONDO_0008207 chondromalacia patellae 'chondromalacia patellae' SubClassOf 'patellar dysostosis' 'chondromalacia patellae' SubClassOf 'chondromalacia' http://purl.obolibrary.org/obo/MONDO_0008206 benign paroxysmal tonic upgaze of childhood with ataxia 'benign paroxysmal tonic upgaze of childhood with ataxia' SubClassOf 'movement disorder' http://purl.obolibrary.org/obo/MONDO_0008205 patella aplasia/hypoplasia 'patella aplasia/hypoplasia' SubClassOf 'patellar dysostosis' 'patella aplasia/hypoplasia' SubClassOf 'non-syndromic limb malformation' http://purl.obolibrary.org/obo/MONDO_0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome 'spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome' SubClassOf 'spondylometaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0008201 Perry syndrome 'Perry syndrome' SubClassOf 'genetic nervous system disorder' 'Perry syndrome' SubClassOf 'parkinsonian disorder' 'Perry syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0011855 granular corneal dystrophy type II 'granular corneal dystrophy type II' SubClassOf 'epithelial-stromal TGFBI dystrophy' 'granular corneal dystrophy type II' SubClassOf 'stromal corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0008218 Hailey-Hailey disease 'Hailey-Hailey disease' SubClassOf 'epidermal disease' 'Hailey-Hailey disease' SubClassOf 'genetic skin disease' 'Hailey-Hailey disease' SubClassOf 'pemphigus' http://purl.obolibrary.org/obo/MONDO_0008217 pelvis-shoulder dysplasia 'pelvis-shoulder dysplasia' SubClassOf 'congenital limb malformation' 'pelvis-shoulder dysplasia' SubClassOf 'dysostosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0008215 adult-onset autosomal dominant demyelinating leukodystrophy 'adult-onset autosomal dominant demyelinating leukodystrophy' SubClassOf 'laminopathy' 'adult-onset autosomal dominant demyelinating leukodystrophy' SubClassOf 'leukodystrophy' 'adult-onset autosomal dominant demyelinating leukodystrophy' SubClassOf 'partial trisomy of the long arm of chromosome 5' http://purl.obolibrary.org/obo/MONDO_0011868 lethal congenital contracture syndrome 2 'lethal congenital contracture syndrome 2' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'lethal congenital contracture syndrome 2' SubClassOf 'lethal congenital contracture syndrome' http://purl.obolibrary.org/obo/MONDO_0008211 pseudoleprechaunism syndrome, Patterson type 'pseudoleprechaunism syndrome, Patterson type' SubClassOf 'has modifier' some 'rare' 'pseudoleprechaunism syndrome, Patterson type' SubClassOf 'adrenal gland disease' http://purl.obolibrary.org/obo/MONDO_0011869 epidermolysis bullosa simplex superficialis 'epidermolysis bullosa simplex superficialis' SubClassOf 'suprabasal epidermolysis bullosa simplex' http://purl.obolibrary.org/obo/MONDO_0011862 hereditary spastic paraplegia 24 'hereditary spastic paraplegia 24' SubClassOf 'autosomal recessive complex spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0008227 peripheral dysostosis 'peripheral dysostosis' SubClassOf 'acromelic dysplasia' http://purl.obolibrary.org/obo/MONDO_0008224 hyperkalemic periodic paralysis 'hyperkalemic periodic paralysis' SubClassOf 'familial periodic paralysis' 'hypokalemic periodic paralysis' DisjointWith 'hyperkalemic periodic paralysis' http://purl.obolibrary.org/obo/MONDO_0011876 juvenile absence epilepsy 'juvenile absence epilepsy' SubClassOf 'inherited disease susceptibility' 'juvenile absence epilepsy' SubClassOf 'predisposes towards' some 'juvenile absence epilepsy' 'juvenile absence epilepsy' SubClassOf 'adolescent/adult-onset epilepsy syndrome' 'juvenile absence epilepsy' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0008223 hypokalemic periodic paralysis 'hypokalemic periodic paralysis' SubClassOf 'potassium deficiency disease' 'hypokalemic periodic paralysis' DisjointWith 'hyperkalemic periodic paralysis' 'hypokalemic periodic paralysis' SubClassOf 'familial periodic paralysis' http://purl.obolibrary.org/obo/MONDO_0011877 autosomal dominant osteopetrosis 1 'autosomal dominant osteopetrosis 1' SubClassOf 'autosomal dominant osteopetrosis' http://purl.obolibrary.org/obo/MONDO_0008222 Andersen-Tawil syndrome 'Andersen-Tawil syndrome' SubClassOf 'familial periodic paralysis' 'Andersen-Tawil syndrome' SubClassOf 'muscular channelopathy' 'Andersen-Tawil syndrome' SubClassOf 'genetic nervous system disorder' 'Andersen-Tawil syndrome' SubClassOf 'familial long QT syndrome' http://purl.obolibrary.org/obo/MONDO_0008221 prolidase deficiency 'prolidase deficiency' SubClassOf 'lymphatic malformation' 'prolidase deficiency' SubClassOf 'syndromic lymphedema' 'prolidase deficiency' SubClassOf 'syndromic intellectual disability' 'prolidase deficiency' SubClassOf 'inborn disorder of peptide metabolism' 'prolidase deficiency' SubClassOf 'genetic skin disease' 'prolidase deficiency' SubClassOf 'neurovascular disorder' 'prolidase deficiency' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0011870 annular epidermolytic ichthyosis 'annular epidermolytic ichthyosis' SubClassOf 'autosomal dominant epidermolytic ichthyosis' http://purl.obolibrary.org/obo/MONDO_0011871 Niemann-Pick disease type B 'Niemann-Pick disease type B' SubClassOf 'Niemann-Pick disease' 'Niemann-Pick disease type B' SubClassOf 'genetic peripheral neuropathy' 'Niemann-Pick disease type B' SubClassOf 'interstitial lung disease specific to childhood' http://purl.obolibrary.org/obo/MONDO_0011874 neonatal ichthyosis-sclerosing cholangitis syndrome 'neonatal ichthyosis-sclerosing cholangitis syndrome' SubClassOf 'autosomal ichthyosis syndrome' 'neonatal ichthyosis-sclerosing cholangitis syndrome' SubClassOf 'sclerosing cholangitis' 'neonatal ichthyosis-sclerosing cholangitis syndrome' SubClassOf 'genetic biliary tract disease' http://purl.obolibrary.org/obo/MONDO_0011872 Griscelli syndrome type 2 'Griscelli syndrome type 2' SubClassOf 'constitutional neutropenia' 'Griscelli syndrome type 2' SubClassOf 'Griscelli syndrome' 'Griscelli syndrome type 2' SubClassOf 'genetic hemophagocytic lymphohistiocytosis' http://purl.obolibrary.org/obo/MONDO_0008237 phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome 'phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome' SubClassOf 'congenital nervous system disorder' 'phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome' SubClassOf 'dysostosis of genetic origin' 'phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome' SubClassOf 'congenital limb malformation' 'phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0011889 Charcot-Marie-Tooth disease type 2I 'Charcot-Marie-Tooth disease type 2I' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'Charcot-Marie-Tooth disease type 2I' SubClassOf 'Charcot-Marie-Tooth disease dominant intermediate D' http://purl.obolibrary.org/obo/MONDO_0008234 multiple endocrine neoplasia type 2A 'multiple endocrine neoplasia type 2A' SubClassOf 'autosomal dominant disease' 'multiple endocrine neoplasia type 2A' SubClassOf 'multiple endocrine neoplasia type 2' http://purl.obolibrary.org/obo/MONDO_0011888 immunodeficiency 67 'immunodeficiency 67' SubClassOf 'hereditary predisposition to infections' 'immunodeficiency 67' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0011882 skin fragility-woolly hair-palmoplantar keratoderma syndrome 'skin fragility-woolly hair-palmoplantar keratoderma syndrome' SubClassOf 'diffuse palmoplantar keratoderma' 'skin fragility-woolly hair-palmoplantar keratoderma syndrome' SubClassOf 'autosomal recessive disease' 'skin fragility-woolly hair-palmoplantar keratoderma syndrome' SubClassOf 'syndromic hair shaft abnormality' http://purl.obolibrary.org/obo/MONDO_0011886 torsion dystonia 13 'torsion dystonia 13' SubClassOf 'focal, segmental or multifocal dystonia' http://purl.obolibrary.org/obo/MONDO_0011883 Curly hair - acral keratoderma - caries syndrome 'Curly hair - acral keratoderma - caries syndrome' SubClassOf 'diffuse palmoplantar keratoderma' 'Curly hair - acral keratoderma - caries syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0011884 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome 'hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome' SubClassOf 'focal palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0008247 robin sequence-oligodactyly syndrome 'robin sequence-oligodactyly syndrome' SubClassOf 'orofacial clefting syndrome' http://purl.obolibrary.org/obo/MONDO_0008246 pigmented paravenous retinochoroidal atrophy 'pigmented paravenous retinochoroidal atrophy' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0008245 piebald trait-neurologic defects syndrome 'piebald trait-neurologic defects syndrome' SubClassOf 'hypopigmentation of the skin' http://purl.obolibrary.org/obo/MONDO_0011899 Noonan syndrome-like disorder with loose anagen hair 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf 'loose anagen syndrome' 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf 'genetic alopecia' 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf 'Noonan syndrome and Noonan-related syndrome' 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0008244 piebaldism 'piebaldism' SubClassOf 'genetic skin disease' 'piebaldism' SubClassOf 'eye disease' 'piebaldism' SubClassOf 'has modifier' some 'rare' 'piebaldism' SubClassOf 'autosomal dominant disease' 'piebaldism' SubClassOf 'neurocristopathy' 'piebaldism' SubClassOf 'hypopigmentation of the skin' http://purl.obolibrary.org/obo/MONDO_0008251 familial pityriasis rubra pilaris 'familial pityriasis rubra pilaris' SubClassOf 'pityriasis rubra pilaris' 'familial pityriasis rubra pilaris' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0008250 isolated growth hormone deficiency type II 'isolated growth hormone deficiency type II' SubClassOf 'isolated congenital growth hormone deficiency' http://purl.obolibrary.org/obo/MONDO_0011890 Charcot-Marie-Tooth disease type 1D 'Charcot-Marie-Tooth disease type 1D' SubClassOf 'Charcot-Marie-Tooth disease type 1' http://purl.obolibrary.org/obo/MONDO_0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome 'leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0011894 Charcot-Marie-Tooth disease type 2E 'Charcot-Marie-Tooth disease type 2E' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://purl.obolibrary.org/obo/MONDO_0008259 familial spontaneous pneumothorax 'familial spontaneous pneumothorax' SubClassOf 'pneumothorax' 'familial spontaneous pneumothorax' SubClassOf 'genetic disorder' 'familial spontaneous pneumothorax' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0008262 Poland syndrome 'Poland syndrome' SubClassOf 'syndromic breast hypoplasia/aplasia' 'Poland syndrome' SubClassOf 'congenital limb malformation' 'Poland syndrome' SubClassOf 'dysostosis of genetic origin' 'Poland syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0008261 hereditary sclerosing poikiloderma, Weary type 'hereditary sclerosing poikiloderma, Weary type' SubClassOf 'hereditary poikiloderma' http://purl.obolibrary.org/obo/MONDO_0008260 Kindler syndrome 'Kindler syndrome' SubClassOf 'inherited epidermolysis bullosa' http://purl.obolibrary.org/obo/MONDO_0008269 polydactyly of a biphalangeal thumb 'polydactyly of a biphalangeal thumb' SubClassOf 'preaxial polydactyly of fingers' http://purl.obolibrary.org/obo/MONDO_0008268 polydactyly-myopia syndrome 'polydactyly-myopia syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0008267 orofaciodigital syndrome V 'orofaciodigital syndrome V' SubClassOf 'syndromic intellectual disability' 'orofaciodigital syndrome V' SubClassOf 'orofaciodigital syndrome' 'orofaciodigital syndrome V' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0008265 polycystic liver disease 1 'polycystic liver disease 1' SubClassOf 'autosomal dominant polycystic liver disease' 'polycystic liver disease 1' SubClassOf 'genetic biliary tract disease' 'polycystic liver disease 1' SubClassOf 'has modifier' some 'has an isolated presentation' http://purl.obolibrary.org/obo/MONDO_0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia 'autosomal dominant medullary cystic kidney disease with or without hyperuricemia' SubClassOf 'familial cystic renal disease' 'autosomal dominant medullary cystic kidney disease with or without hyperuricemia' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0008272 polysyndactyly 4 'polysyndactyly 4' SubClassOf 'preaxial polydactyly of fingers' 'polysyndactyly 4' SubClassOf 'inborn errors of metabolism' 'polysyndactyly 4' SubClassOf 'non-syndromic synpolydactyly' 'polysyndactyly 4' SubClassOf 'developmental anomaly of metabolic origin' http://purl.obolibrary.org/obo/MONDO_0008271 polydactyly of an index finger 'polydactyly of an index finger' SubClassOf 'preaxial polydactyly of fingers' http://purl.obolibrary.org/obo/MONDO_0008270 polydactyly of a triphalangeal thumb 'polydactyly of a triphalangeal thumb' SubClassOf 'preaxial polydactyly of fingers' http://purl.obolibrary.org/obo/MONDO_0008276 generalized juvenile polyposis/juvenile polyposis coli 'generalized juvenile polyposis/juvenile polyposis coli' SubClassOf 'juvenile polyposis syndrome' 'generalized juvenile polyposis/juvenile polyposis coli' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0008275 familial expansile osteolysis 'familial expansile osteolysis' SubClassOf 'genetic disorder' 'familial expansile osteolysis' SubClassOf 'primary osteolysis' http://purl.obolibrary.org/obo/MONDO_0008274 polyostotic fibrous dysplasia 'polyostotic fibrous dysplasia' SubClassOf 'fibrous dysplasia' http://purl.obolibrary.org/obo/MONDO_0008283 Cronkhite-Canada syndrome 'Cronkhite-Canada syndrome' SubClassOf 'digestive system disease' 'Cronkhite-Canada syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'Cronkhite-Canada syndrome' SubClassOf 'intestinal polyposis syndrome' http://purl.obolibrary.org/obo/MONDO_0008280 Peutz-Jeghers syndrome 'Peutz-Jeghers syndrome' SubClassOf 'genetic intestinal polyposis' 'Peutz-Jeghers syndrome' SubClassOf 'developmental defect during embryogenesis' 'Peutz-Jeghers syndrome' SubClassOf 'disease has feature' some 'Peutz-Jeghers Polyp' 'Peutz-Jeghers syndrome' SubClassOf 'disease has feature' some 'pigmented conjunctival lesion' 'Peutz-Jeghers syndrome' SubClassOf 'intestinal polyposis syndrome' 'Peutz-Jeghers syndrome' SubClassOf 'intestinal neoplasm' 'Peutz-Jeghers syndrome' SubClassOf 'inherited digestive tract tumor' 'Peutz-Jeghers syndrome' SubClassOf 'disease has feature' some 'hyperpigmentation of the skin' 'Peutz-Jeghers syndrome' SubClassOf 'disease has feature' some 'palpebral lentiginosis' http://purl.obolibrary.org/obo/MONDO_0008287 Greig cephalopolysyndactyly syndrome 'Greig cephalopolysyndactyly syndrome' SubClassOf 'syndromic disease' 'Greig cephalopolysyndactyly syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008286 crossed polysyndactyly 'crossed polysyndactyly' SubClassOf 'congenital limb malformation' http://purl.obolibrary.org/obo/MONDO_0008294 acute intermittent porphyria 'acute intermittent porphyria' SubClassOf 'inherited porphyria' 'acute intermittent porphyria' SubClassOf 'hepatic porphyria' http://purl.obolibrary.org/obo/MONDO_0008292 punctate palmoplantar keratoderma type 2 'punctate palmoplantar keratoderma type 2' SubClassOf 'isolated punctate palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0008291 porokeratosis plantaris palmaris et disseminata 'porokeratosis plantaris palmaris et disseminata' SubClassOf 'isolated punctate palmoplantar keratoderma' 'porokeratosis plantaris palmaris et disseminata' SubClassOf 'porokeratosis' http://purl.obolibrary.org/obo/MONDO_0008298 postaxial tetramelic oligodactyly 'postaxial tetramelic oligodactyly' SubClassOf 'congenital limb malformation' 'postaxial tetramelic oligodactyly' SubClassOf 'dysostosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0008297 variegate porphyria 'variegate porphyria' SubClassOf 'hepatic porphyria' 'variegate porphyria' SubClassOf 'inherited porphyria' http://purl.obolibrary.org/obo/MONDO_0011706 Kufor-Rakeb syndrome 'Kufor-Rakeb syndrome' SubClassOf 'juvenile-onset Parkinson disease' 'Kufor-Rakeb syndrome' SubClassOf 'neurodegeneration with brain iron accumulation' http://purl.obolibrary.org/obo/MONDO_0011707 familial dyskinesia and facial myokymia 'familial dyskinesia and facial myokymia' SubClassOf 'movement disorder' 'familial dyskinesia and facial myokymia' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0011705 lymphangioleiomyomatosis 'lymphangioleiomyomatosis' SubClassOf 'PEComa' http://purl.obolibrary.org/obo/MONDO_0011719 gastrointestinal stromal tumor 'gastrointestinal stromal tumor' SubClassOf 'mesenchymal tumor of small intestine' 'gastrointestinal stromal tumor' SubClassOf 'inherited digestive tract tumor' http://purl.obolibrary.org/obo/MONDO_0011717 hyperinsulinism-hyperammonemia syndrome 'hyperinsulinism-hyperammonemia syndrome' SubClassOf 'urea cycle disorder' 'hyperinsulinism-hyperammonemia syndrome' SubClassOf 'diazoxide-sensitive diffuse hyperinsulinism' http://purl.obolibrary.org/obo/MONDO_0011724 encephalopathy due to GLUT1 deficiency 'encephalopathy due to GLUT1 deficiency' SubClassOf 'GLUT1 deficiency syndrome' http://purl.obolibrary.org/obo/MONDO_0011725 Crigler-Najjar syndrome type 2 'Crigler-Najjar syndrome type 2' SubClassOf 'Crigler-Najjar syndrome' 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' 'intellectual disability-obesity-prognathism-eye and skin anomalies syndrome' SubClassOf 'genetic nervous system disorder' 'intellectual disability-obesity-prognathism-eye and skin anomalies syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'intellectual disability-obesity-prognathism-eye and skin anomalies syndrome' SubClassOf 'syndromic genetic obesity' 'intellectual disability-obesity-prognathism-eye and skin anomalies syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0011721 distal myopathy with anterior tibial onset 'distal myopathy with anterior tibial onset' SubClassOf 'qualitative or quantitative defects of dysferlin' 'distal myopathy with anterior tibial onset' SubClassOf 'autosomal recessive distal myopathy' http://purl.obolibrary.org/obo/MONDO_0011735 hyper-IgM syndrome type 3 'hyper-IgM syndrome type 3' SubClassOf 'hyper-IgM syndrome with susceptibility to opportunistic infections' http://purl.obolibrary.org/obo/MONDO_0011738 bilateral frontoparietal polymicrogyria 'bilateral frontoparietal polymicrogyria' SubClassOf 'bilateral polymicrogyria' 'bilateral frontoparietal polymicrogyria' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0011731 glucose-galactose malabsorption 'glucose-galactose malabsorption' SubClassOf 'congenital intestinal transport defect' 'glucose-galactose malabsorption' SubClassOf 'glucose transport disorder' http://purl.obolibrary.org/obo/MONDO_0011732 familial digital arthropathy-brachydactyly 'familial digital arthropathy-brachydactyly' SubClassOf 'TRPV4-related bone disorder' 'familial digital arthropathy-brachydactyly' SubClassOf 'congenital limb malformation' 'familial digital arthropathy-brachydactyly' SubClassOf 'dysostosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0011730 fumaric aciduria 'fumaric aciduria' SubClassOf 'genetic peripheral neuropathy' 'fumaric aciduria' SubClassOf 'neurometabolic disease' 'fumaric aciduria' SubClassOf 'inborn mitochondrial metabolism disorder' 'fumaric aciduria' SubClassOf 'tricarboxylic acid cycle disorder' http://purl.obolibrary.org/obo/MONDO_0011744 primary intraosseous venous malformation 'primary intraosseous venous malformation' SubClassOf 'infantile hemangioma of rare localization' 'primary intraosseous venous malformation' SubClassOf 'genetic vascular anomaly' 'primary intraosseous venous malformation' SubClassOf 'hereditary disorder of connective tissue' 'primary intraosseous venous malformation' SubClassOf 'congenital vascular bone syndrome' 'primary intraosseous venous malformation' SubClassOf 'vascular bone neoplasm' 'primary intraosseous venous malformation' SubClassOf 'bone benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0011749 oculocutaneous albinism type 1B 'oculocutaneous albinism type 1B' SubClassOf 'oculocutaneous albinism type 1A' http://purl.obolibrary.org/obo/MONDO_0011740 Carney-Stratakis syndrome 'Carney-Stratakis syndrome' SubClassOf 'hereditary neoplastic syndrome' 'Carney-Stratakis syndrome' SubClassOf 'multiple polyglandular tumor' http://purl.obolibrary.org/obo/MONDO_0008108 oculocerebrocutaneous syndrome 'oculocerebrocutaneous syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0011758 Hurler syndrome 'Hurler syndrome' DisjointWith 'Hurler-Scheie syndrome' 'Hurler syndrome' SubClassOf 'mucopolysaccharidosis type 1' 'Hurler syndrome' SubClassOf 'syndromic disease' 'Hurler syndrome' SubClassOf 'familial restrictive cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0011759 Hurler-Scheie syndrome 'Hurler syndrome' DisjointWith 'Hurler-Scheie syndrome' 'Hurler-Scheie syndrome' DisjointWith 'Scheie syndrome' 'Hurler-Scheie syndrome' SubClassOf 'syndromic disease' 'Hurler-Scheie syndrome' SubClassOf 'mucopolysaccharidosis type 1' http://purl.obolibrary.org/obo/MONDO_0011754 familial hyperreninemic hypoaldosteronism type 2 'familial hyperreninemic hypoaldosteronism type 2' SubClassOf 'familial hypoaldosteronism' http://purl.obolibrary.org/obo/MONDO_0008119 spinocerebellar ataxia type 1 'spinocerebellar ataxia type 1' SubClassOf 'Huntington disease-like syndrome' 'spinocerebellar ataxia type 1' SubClassOf 'autosomal dominant cerebellar ataxia type I' http://purl.obolibrary.org/obo/MONDO_0008118 odontomatosis-aortae esophagus stenosis syndrome 'odontomatosis-aortae esophagus stenosis syndrome' SubClassOf 'has modifier' some 'rare' 'odontomatosis-aortae esophagus stenosis syndrome' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0008116 oculopharyngeal muscular dystrophy 'oculopharyngeal muscular dystrophy' SubClassOf 'genetic nervous system disorder' 'oculopharyngeal muscular dystrophy' SubClassOf 'progressive muscular dystrophy' 'oculopharyngeal muscular dystrophy' SubClassOf 'myopathy of extraocular muscle' 'oculopharyngeal muscular dystrophy' SubClassOf 'eyelids malposition disorder' http://purl.obolibrary.org/obo/MONDO_0008115 Feingold syndrome type 1 'Feingold syndrome type 1' SubClassOf 'Feingold syndrome' http://purl.obolibrary.org/obo/MONDO_0011766 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome '46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome' SubClassOf '46,XY complete gonadal dysgenesis' http://purl.obolibrary.org/obo/MONDO_0008113 Schilbach-Rott syndrome 'Schilbach-Rott syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Schilbach-Rott syndrome' SubClassOf 'syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0008111 oculodentodigital dysplasia 'oculodentodigital dysplasia' SubClassOf 'ectodermal dysplasia syndrome' 'oculodentodigital dysplasia' SubClassOf 'eye disease' 'oculodentodigital dysplasia' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0011760 Scheie syndrome 'Hurler-Scheie syndrome' DisjointWith 'Scheie syndrome' 'Scheie syndrome' SubClassOf 'syndromic disease' 'Scheie syndrome' SubClassOf 'mucopolysaccharidosis type 1' http://purl.obolibrary.org/obo/MONDO_0011765 multiple epiphyseal dysplasia type 5 'multiple epiphyseal dysplasia type 5' SubClassOf 'multiple epiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0008127 ophthalmomandibulomelic dysplasia 'ophthalmomandibulomelic dysplasia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0011778 multiple epiphyseal dysplasia, Al-Gazali type 'multiple epiphyseal dysplasia, Al-Gazali type' SubClassOf 'multiple epiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0008123 autosomal dominant omodysplasia 'autosomal dominant omodysplasia' SubClassOf 'autosomal dominant disease' 'autosomal dominant omodysplasia' SubClassOf 'omodysplasia' http://purl.obolibrary.org/obo/MONDO_0008120 spinocerebellar ataxia type 7 'spinocerebellar ataxia type 7' SubClassOf 'autosomal dominant cerebellar ataxia type II' http://purl.obolibrary.org/obo/MONDO_0008130 ophthalmoplegia-intellectual disability-lingua scrotalis syndrome 'ophthalmoplegia-intellectual disability-lingua scrotalis syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '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_0011771 distal spinal muscular atrophy type 3 'distal spinal muscular atrophy type 3' SubClassOf 'autosomal recessive distal hereditary motor neuropathy' 'distal spinal muscular atrophy type 3' SubClassOf 'spinal muscular atrophy' http://purl.obolibrary.org/obo/MONDO_0011772 B4GALT1-CDG 'B4GALT1-CDG' SubClassOf 'developmental anomaly of metabolic origin' 'B4GALT1-CDG' SubClassOf 'neurometabolic disease' 'B4GALT1-CDG' SubClassOf 'disorder of multiple glycosylation' 'B4GALT1-CDG' SubClassOf 'central nervous system malformation' 'B4GALT1-CDG' SubClassOf 'congenital nervous system disorder' 'B4GALT1-CDG' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'B4GALT1-CDG' SubClassOf 'congenital disorder of glycosylation type II' http://purl.obolibrary.org/obo/MONDO_0011776 CINCA syndrome 'CINCA syndrome' SubClassOf 'cryopyrin-associated periodic syndrome' http://purl.obolibrary.org/obo/MONDO_0011773 anauxetic dysplasia 'anauxetic dysplasia' SubClassOf 'genetic disorder' 'anauxetic dysplasia' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0008139 OSLAM syndrome 'OSLAM syndrome' SubClassOf 'congenital limb malformation' 'OSLAM syndrome' SubClassOf 'bone neoplasm' 'OSLAM syndrome' SubClassOf 'dysostosis of genetic origin' 'OSLAM syndrome' SubClassOf 'hereditary disorder of connective tissue' http://purl.obolibrary.org/obo/MONDO_0008138 syndromic orbital border hypoplasia 'syndromic orbital border hypoplasia' SubClassOf 'excretory apparatus of the lacrimal system anomaly' http://purl.obolibrary.org/obo/MONDO_0008137 orofaciodigital syndrome X 'orofaciodigital syndrome X' SubClassOf 'genetic nervous system disorder' 'orofaciodigital syndrome X' SubClassOf 'orofaciodigital syndrome' 'orofaciodigital syndrome X' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008136 isolated optic nerve hypoplasia 'isolated optic nerve hypoplasia' SubClassOf 'hereditary optic neuropathy' 'isolated optic nerve hypoplasia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0011788 cloverleaf skull-multiple congenital anomalies syndrome 'cloverleaf skull-multiple congenital anomalies syndrome' SubClassOf 'syndromic craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0008134 autosomal dominant optic atrophy, classic form 'autosomal dominant optic atrophy, classic form' SubClassOf 'autosomal dominant optic atrophy' 'autosomal dominant optic atrophy, classic form' SubClassOf 'mitochondrial oxidative phosphorylation disorder' http://purl.obolibrary.org/obo/MONDO_0008133 optic atrophy 3 'optic atrophy 3' SubClassOf 'autosomal dominant optic atrophy' 'optic atrophy 3' SubClassOf 'mitochondrial oxidative phosphorylation disorder' http://purl.obolibrary.org/obo/MONDO_0011783 ALG12-CDG 'ALG12-CDG' SubClassOf 'disorder of protein N-glycosylation' 'ALG12-CDG' SubClassOf 'congenital nervous system disorder' 'ALG12-CDG' SubClassOf 'neurometabolic disease' 'ALG12-CDG' SubClassOf 'congenital disorder of glycosylation type I' http://purl.obolibrary.org/obo/MONDO_0011781 spinocerebellar ataxia type 17 'spinocerebellar ataxia type 17' SubClassOf 'disease arises from feature' some 'neurodegenerative disease' 'spinocerebellar ataxia type 17' SubClassOf 'Huntington disease-like syndrome' 'spinocerebellar ataxia type 17' SubClassOf 'autosomal dominant cerebellar ataxia type I' http://purl.obolibrary.org/obo/MONDO_0011787 autosomal recessive limb-girdle muscular dystrophy type 2I 'autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' 'autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf 'neurometabolic disease' 'autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf 'disorder of O-mannosylglycan synthesis' 'autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf 'myopathy caused by variation in FKRP' 'autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf 'qualitative or quantitative defects of FKRP' http://purl.obolibrary.org/obo/MONDO_0011785 hereditary spastic paraplegia 19 'hereditary spastic paraplegia 19' SubClassOf 'autosomal dominant pure spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0008148 osteogenesis imperfecta type 4 'osteogenesis imperfecta type 4' SubClassOf 'osteogenesis imperfecta' http://purl.obolibrary.org/obo/MONDO_0008147 osteogenesis imperfecta type 2 'osteogenesis imperfecta type 2' SubClassOf 'osteogenesis imperfecta' http://purl.obolibrary.org/obo/MONDO_0008146 osteogenesis imperfecta type 1 'osteogenesis imperfecta type 1' SubClassOf 'osteogenesis imperfecta' http://purl.obolibrary.org/obo/MONDO_0008145 Ollier disease 'Ollier disease' SubClassOf 'overgrowth syndrome' 'Ollier disease' SubClassOf 'bone neoplasm' 'Ollier disease' SubClassOf 'disease has feature' some 'bone benign neoplasm' 'Ollier disease' SubClassOf 'primary bone dysplasia' 'Ollier disease' SubClassOf 'hereditary disorder of connective tissue' 'Ollier disease' SubClassOf 'hereditary neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0008142 Thiemann disease, familial form 'Thiemann disease, familial form' SubClassOf 'osteochondrosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0008152 multicentric carpo-tarsal osteolysis with or without nephropathy 'multicentric carpo-tarsal osteolysis with or without nephropathy' SubClassOf 'primary osteolysis' 'multicentric carpo-tarsal osteolysis with or without nephropathy' SubClassOf 'genetic disorder' 'multicentric carpo-tarsal osteolysis with or without nephropathy' SubClassOf 'syndromic renal or urinary tract malformation' http://purl.obolibrary.org/obo/MONDO_0008151 gnathodiaphyseal dysplasia 'gnathodiaphyseal dysplasia' SubClassOf 'primary bone dysplasia' 'gnathodiaphyseal dysplasia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008150 osteoglophonic dwarfism 'osteoglophonic dwarfism' SubClassOf 'musculoskeletal system disease' 'osteoglophonic dwarfism' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0011797 infantile-onset ascending hereditary spastic paralysis 'infantile-onset ascending hereditary spastic paralysis' SubClassOf 'hereditary motor neuron disease' http://purl.obolibrary.org/obo/MONDO_0011795 anonychia-microcephaly syndrome 'anonychia-microcephaly syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0011790 Amish lethal microcephaly 'Amish lethal microcephaly' SubClassOf 'thiamine-responsive dysfunction syndrome' 'Amish lethal microcephaly' SubClassOf 'genetic nervous system disorder' 'Amish lethal microcephaly' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0008158 dacryocystitis-osteopoikilosis syndrome 'dacryocystitis-osteopoikilosis syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0008157 Buschke-Ollendorff syndrome 'Buschke-Ollendorff syndrome' SubClassOf 'dermis elastic tissue disorder' 'Buschke-Ollendorff syndrome' SubClassOf 'genetic skin disease' 'Buschke-Ollendorff syndrome' SubClassOf 'osteopetrosis' 'Buschke-Ollendorff syndrome' SubClassOf 'laminopathy' http://purl.obolibrary.org/obo/MONDO_0008156 autosomal dominant osteopetrosis 2 'autosomal dominant osteopetrosis 2' SubClassOf 'autosomal dominant osteopetrosis' http://purl.obolibrary.org/obo/MONDO_0008155 osteomesopyknosis 'osteomesopyknosis' SubClassOf 'osteopetrosis' http://purl.obolibrary.org/obo/MONDO_0008153 progressive osseous heteroplasia 'progressive osseous heteroplasia' SubClassOf 'dermis disorder' 'progressive osseous heteroplasia' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0008163 otofaciocervical syndrome 'otofaciocervical syndrome' SubClassOf 'branchial arch or oral-acral syndrome' 'otofaciocervical syndrome' SubClassOf 'genetic disorder' 'otofaciocervical syndrome' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0008161 otodental syndrome 'otodental syndrome' SubClassOf 'partial deletion of the long arm of chromosome 11' http://purl.obolibrary.org/obo/MONDO_0008165 southeast Asian ovalocytosis 'southeast Asian ovalocytosis' SubClassOf 'hereditary elliptocytosis' 'southeast Asian ovalocytosis' SubClassOf 'familial hemolytic anemia' 'southeast Asian ovalocytosis' SubClassOf 'hereditary stomatocytosis' http://purl.obolibrary.org/obo/MONDO_0008179 paroxysmal extreme pain disorder 'paroxysmal extreme pain disorder' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0008175 pacman dysplasia 'pacman dysplasia' SubClassOf 'primary osteolysis' http://purl.obolibrary.org/obo/MONDO_0008185 hereditary chronic pancreatitis 'hereditary chronic pancreatitis' EquivalentTo 'chronic pancreatitis' and ('has modifier' some 'inherited') 'hereditary chronic pancreatitis' SubClassOf 'chronic pancreatitis' 'hereditary chronic pancreatitis' SubClassOf 'inborn errors of metabolism' 'hereditary chronic pancreatitis' SubClassOf 'has modifier' some 'rare' 'hereditary chronic pancreatitis' SubClassOf 'diabetes mellitus' http://purl.obolibrary.org/obo/MONDO_0008183 annular pancreas 'annular pancreas' SubClassOf 'non-syndromic visceral malformation' http://purl.obolibrary.org/obo/MONDO_0008182 nasopalpebral lipoma-coloboma syndrome 'nasopalpebral lipoma-coloboma syndrome' SubClassOf 'syndromic palpebral coloboma' 'nasopalpebral lipoma-coloboma syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008196 parastremmatic dwarfism 'parastremmatic dwarfism' SubClassOf 'genetic disorder' 'parastremmatic dwarfism' SubClassOf 'TRPV4-related bone disorder' 'parastremmatic dwarfism' SubClassOf 'bent bone dysplasia' http://purl.obolibrary.org/obo/MONDO_0008195 paramyotonia congenita of Von Eulenburg 'paramyotonia congenita of Von Eulenburg' SubClassOf 'genetic nervous system disorder' 'paramyotonia congenita of Von Eulenburg' SubClassOf 'myotonic syndrome' 'paramyotonia congenita of Von Eulenburg' SubClassOf 'muscular channelopathy' http://purl.obolibrary.org/obo/MONDO_0008198 parietal foramina with cleidocranial dysplasia 'parietal foramina with cleidocranial dysplasia' SubClassOf 'cranial malformation' 'parietal foramina with cleidocranial dysplasia' SubClassOf 'genetic disorder' 'parietal foramina with cleidocranial dysplasia' SubClassOf 'primary bone dysplasia' http://purl.obolibrary.org/obo/MONDO_0021181 inherited blood coagulation disorder 'inherited blood coagulation disorder' SubClassOf 'blood coagulation disease' 'inherited blood coagulation disorder' SubClassOf 'genetic disorder' 'inherited blood coagulation disorder' EquivalentTo 'blood coagulation disease' and ('has modifier' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0011603 GNE myopathy 'GNE myopathy' SubClassOf 'autosomal recessive distal myopathy' 'GNE myopathy' SubClassOf 'inclusion body myositis' 'GNE myopathy' SubClassOf 'qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -' 'GNE myopathy' SubClassOf 'syndromic constitutional thrombocytopenia' 'GNE myopathy' SubClassOf 'congenital hematological disorder' 'GNE myopathy' SubClassOf 'neurometabolic disease' 'GNE myopathy' SubClassOf 'inclusion myopathy' 'GNE myopathy' SubClassOf 'congenital nervous system disorder' 'GNE myopathy' SubClassOf 'disorder of multiple glycosylation' http://purl.obolibrary.org/obo/MONDO_0011604 spondylo-ocular syndrome 'spondylo-ocular syndrome' SubClassOf 'congenital vitreoretinal dysplasia' 'spondylo-ocular syndrome' SubClassOf 'syndromic cataract' http://purl.obolibrary.org/obo/MONDO_0011601 neonatal intrahepatic cholestasis due to citrin deficiency 'neonatal intrahepatic cholestasis due to citrin deficiency' SubClassOf 'citrin deficiency' http://purl.obolibrary.org/obo/MONDO_0011605 generalized basaloid follicular hamartoma syndrome 'generalized basaloid follicular hamartoma syndrome' SubClassOf 'inherited skin tumor' http://purl.obolibrary.org/obo/MONDO_0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency '3-hydroxy-3-methylglutaryl-CoA synthase deficiency' SubClassOf 'disorder of fatty acid oxidation and ketogenesis' http://purl.obolibrary.org/obo/MONDO_0011615 East Texas bleeding disorder 'East Texas bleeding disorder' SubClassOf 'coagulation protein disease' 'East Texas bleeding disorder' SubClassOf 'hemorrhagic disease' http://purl.obolibrary.org/obo/MONDO_0011612 glycine encephalopathy 'glycine encephalopathy' SubClassOf 'cerebral organic aciduria' 'glycine encephalopathy' SubClassOf 'glycine metabolism disease' 'glycine encephalopathy' SubClassOf 'neurometabolic disease' 'glycine encephalopathy' SubClassOf 'inborn disorder of serine family metabolism' http://purl.obolibrary.org/obo/MONDO_0011610 dimethylglycine dehydrogenase deficiency 'dimethylglycine dehydrogenase deficiency' SubClassOf 'inborn disorder of serine family metabolism' http://purl.obolibrary.org/obo/MONDO_0011624 transaldolase deficiency 'transaldolase deficiency' SubClassOf 'inborn disorder of pentose phosphate metabolism' http://purl.obolibrary.org/obo/MONDO_0011628 propionic acidemia 'propionic acidemia' SubClassOf 'classic organic aciduria' http://purl.obolibrary.org/obo/MONDO_0011621 acropectoral syndrome 'acropectoral syndrome' SubClassOf 'congenital limb malformation' http://purl.obolibrary.org/obo/MONDO_0011620 metaphyseal dysplasia, Braun-Tinschert type 'metaphyseal dysplasia, Braun-Tinschert type' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0011634 rippling muscle disease 'rippling muscle disease' SubClassOf 'non-dystrophic myopathy' http://purl.obolibrary.org/obo/MONDO_0011638 neuroferritinopathy 'neuroferritinopathy' SubClassOf 'neurodegeneration with brain iron accumulation' 'neuroferritinopathy' SubClassOf 'Huntington disease-like syndrome' 'neuroferritinopathy' SubClassOf 'disorder of iron metabolism and transport' http://purl.obolibrary.org/obo/MONDO_0011633 Charcot-Marie-Tooth disease axonal type 2C 'Charcot-Marie-Tooth disease axonal type 2C' SubClassOf 'motor peripheral neuropathy' 'Charcot-Marie-Tooth disease axonal type 2C' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://purl.obolibrary.org/obo/MONDO_0011631 hemochromatosis type 4 'hemochromatosis type 4' SubClassOf 'has modifier' some 'rare' 'hemochromatosis type 4' SubClassOf 'hereditary hemochromatosis' http://purl.obolibrary.org/obo/MONDO_0011640 genitopatellar syndrome 'genitopatellar syndrome' SubClassOf 'genetic nervous system disorder' 'genitopatellar syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'genitopatellar syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'genitopatellar syndrome' SubClassOf 'syndromic intellectual disability' 'genitopatellar syndrome' SubClassOf 'congenital nervous system disorder' 'genitopatellar syndrome' SubClassOf 'patellar dysostosis' http://purl.obolibrary.org/obo/MONDO_0008009 monilethrix 'monilethrix' SubClassOf 'isolated genetic hair shaft abnormality' 'monilethrix' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0008008 MOMO syndrome 'MOMO syndrome' SubClassOf 'syndromic genetic obesity' http://purl.obolibrary.org/obo/MONDO_0008007 tooth ankylosis 'tooth ankylosis' SubClassOf 'tooth hard tissue disease' 'tooth ankylosis' SubClassOf 'ankylosis' 'tooth ankylosis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008006 Mobius syndrome 'Mobius syndrome' SubClassOf 'paralytic facial malformation' 'Mobius syndrome' SubClassOf 'nuclear oculomotor paralysis' 'Mobius syndrome' SubClassOf 'cranial nerve and nuclear aplasia' 'Mobius syndrome' SubClassOf 'branchial arch or oral-acral syndrome' 'Mobius syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Mobius syndrome' SubClassOf 'facial nerve disease' http://purl.obolibrary.org/obo/MONDO_0008005 cardiospondylocarpofacial syndrome 'cardiospondylocarpofacial syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0008003 autosomal dominant progressive external ophthalmoplegia 'autosomal dominant progressive external ophthalmoplegia' SubClassOf 'progressive external ophthalmoplegia with mitochondrial DNA deletions' 'autosomal dominant progressive external ophthalmoplegia' SubClassOf 'multiple mitochondrial DNA deletion syndrome' 'autosomal dominant progressive external ophthalmoplegia' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0008002 mirror movements 1 'mirror movements 1' SubClassOf 'familial congenital mirror movements' http://purl.obolibrary.org/obo/MONDO_0011652 Phelan-McDermid syndrome 'Phelan-McDermid syndrome' SubClassOf 'chromosome 22q deletion' http://purl.obolibrary.org/obo/MONDO_0008019 mullerian aplasia and hyperandrogenism 'mullerian aplasia and hyperandrogenism' SubClassOf 'genetic disorder' 'mullerian aplasia and hyperandrogenism' SubClassOf 'partial bilateral aplasia of the mullerian ducts' http://purl.obolibrary.org/obo/MONDO_0008018 Muir-Torre syndrome 'Muir-Torre syndrome' SubClassOf 'hereditary nonpolyposis colon cancer' 'Muir-Torre syndrome' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0008017 hereditary mucoepithelial dysplasia 'hereditary mucoepithelial dysplasia' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0011669 hypotonia-cystinuria syndrome 'hypotonia-cystinuria syndrome' SubClassOf 'syndromic disease' 'hypotonia-cystinuria syndrome' SubClassOf 'homozygous 2p21 microdeletion syndrome' 'hypotonia-cystinuria syndrome' SubClassOf 'inborn disorder of amino acid absorption and transport' 'hypotonia-cystinuria syndrome' SubClassOf 'inborn mitochondrial metabolism disorder' http://purl.obolibrary.org/obo/MONDO_0008016 trismus-pseudocamptodactyly syndrome 'trismus-pseudocamptodactyly syndrome' SubClassOf 'distal arthrogryposis' http://purl.obolibrary.org/obo/MONDO_0008013 chromosome 9p deletion syndrome 'chromosome 9p deletion syndrome' SubClassOf 'partial deletion of chromosome 9' http://purl.obolibrary.org/obo/MONDO_0011663 juvenile primary lateral sclerosis 'juvenile primary lateral sclerosis' SubClassOf 'lateral sclerosis' http://purl.obolibrary.org/obo/MONDO_0011664 immunodeficiency due to CD25 deficiency 'immunodeficiency due to CD25 deficiency' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0008029 Bethlem myopathy 'Bethlem myopathy' SubClassOf 'progressive muscular dystrophy' 'Bethlem myopathy' SubClassOf 'contracture' 'Bethlem myopathy' SubClassOf 'genetic nervous system disorder' 'Bethlem myopathy' SubClassOf 'congenital muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures 'autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures' SubClassOf 'autosomal dominant childhood-onset proximal spinal muscular atrophy' http://purl.obolibrary.org/obo/MONDO_0008023 muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome 'muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome' SubClassOf 'hereditary ataxia' 'muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome' SubClassOf 'syndromic retinitis pigmentosa' 'muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome' SubClassOf 'eye degenerative disorder' http://purl.obolibrary.org/obo/MONDO_0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency 'Ehlers-Danlos syndrome due to tenascin-X deficiency' SubClassOf 'syndromic diaphragmatic or abdominal wall malformation' 'Ehlers-Danlos syndrome due to tenascin-X deficiency' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome due to tenascin-X deficiency' SubClassOf 'syndromic diaphragmatic or thoracic malformation' http://purl.obolibrary.org/obo/MONDO_0011671 Huntington disease-like 2 'Huntington disease-like 2' SubClassOf 'neuroacanthocytosis' http://purl.obolibrary.org/obo/MONDO_0011676 PHACE syndrome 'PHACE syndrome' SubClassOf 'disease has feature' some 'neurovascular malformation' 'PHACE syndrome' SubClassOf 'central nervous system malformation' 'PHACE syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'PHACE syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'PHACE syndrome' SubClassOf 'heart disease' http://purl.obolibrary.org/obo/MONDO_0011674 Charcot-Marie-Tooth disease dominant intermediate B 'Charcot-Marie-Tooth disease dominant intermediate B' SubClassOf 'autosomal dominant intermediate Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0011675 Charcot-Marie-Tooth Disease, axonal, type 2GG 'Charcot-Marie-Tooth Disease, axonal, type 2GG' SubClassOf 'autosomal dominant intermediate Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0008038 ataxia-pancytopenia syndrome 'ataxia-pancytopenia syndrome' SubClassOf 'genetic nervous system disorder' 'ataxia-pancytopenia syndrome' SubClassOf 'disorder of medulla oblongata' http://purl.obolibrary.org/obo/MONDO_0011683 oculocutaneous albinism type 4 'oculocutaneous albinism type 4' SubClassOf 'oculocutaneous albinism' http://purl.obolibrary.org/obo/MONDO_0011681 episodic ataxia type 4 'episodic ataxia type 4' SubClassOf 'hereditary episodic ataxia' http://purl.obolibrary.org/obo/MONDO_0011682 episodic ataxia type 3 'episodic ataxia type 3' SubClassOf 'hereditary episodic ataxia' http://purl.obolibrary.org/obo/MONDO_0011687 Charcot-Marie-Tooth disease axonal type 2F 'Charcot-Marie-Tooth disease axonal type 2F' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://purl.obolibrary.org/obo/MONDO_0011686 DNA ligase IV deficiency 'DNA ligase IV deficiency' SubClassOf 'syndromic disease' 'DNA ligase IV deficiency' SubClassOf 'T-B- severe combined immunodeficiency' 'DNA ligase IV deficiency' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0021020 Crigler-Najjar syndrome type 1 'Crigler-Najjar syndrome type 1' SubClassOf 'Crigler-Najjar syndrome' http://purl.obolibrary.org/obo/MONDO_0021022 hereditary hyperekplexia 'hereditary hyperekplexia' EquivalentTo 'hyperekplexia' and ('has modifier' some 'inherited') 'hereditary hyperekplexia' SubClassOf 'neurometabolic disease' 'hereditary hyperekplexia' SubClassOf 'hyperekplexia' 'hereditary hyperekplexia' SubClassOf 'metabolic disease involving other neurotransmitter deficiency' http://purl.obolibrary.org/obo/MONDO_0021023 complete androgen insensitivity syndrome 'complete androgen insensitivity syndrome' SubClassOf 'androgen insensitivity syndrome' http://purl.obolibrary.org/obo/MONDO_0021026 genetic epidermal appendage anomaly 'genetic epidermal appendage anomaly' SubClassOf 'genetic skin disease' 'genetic epidermal appendage anomaly' EquivalentTo 'epidermal appendage anomaly' and ('has modifier' some 'inherited') 'genetic epidermal appendage anomaly' SubClassOf 'epidermal appendage anomaly' http://purl.obolibrary.org/obo/MONDO_0021027 genetic hair anomaly 'genetic hair anomaly' SubClassOf 'hair anomaly' 'genetic hair anomaly' EquivalentTo 'hair anomaly' and ('has modifier' some 'inherited') 'genetic hair anomaly' SubClassOf 'genetic epidermal appendage anomaly' http://purl.obolibrary.org/obo/MONDO_0008048 autosomal dominant centronuclear myopathy 'autosomal dominant centronuclear myopathy' SubClassOf 'congenital structural myopathy' 'autosomal dominant centronuclear myopathy' SubClassOf 'autosomal dominant disease' 'autosomal dominant centronuclear myopathy' SubClassOf 'centronuclear myopathy' http://purl.obolibrary.org/obo/MONDO_0008047 episodic ataxia type 1 'episodic ataxia type 1' SubClassOf 'hereditary episodic ataxia' 'episodic ataxia type 1' SubClassOf 'genetic peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0008046 autosomal dominant myoglobinuria 'autosomal dominant myoglobinuria' SubClassOf 'myoglobinuria' 'autosomal dominant myoglobinuria' SubClassOf 'muscular lipidosis' 'autosomal dominant myoglobinuria' SubClassOf 'autosomal dominant disease' 'autosomal dominant myoglobinuria' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome 'spinal muscular atrophy-progressive myoclonic epilepsy syndrome' SubClassOf 'variable age onset epilepsy' 'spinal muscular atrophy-progressive myoclonic epilepsy syndrome' SubClassOf 'movement disorder' 'spinal muscular atrophy-progressive myoclonic epilepsy syndrome' SubClassOf 'hereditary motor neuron disease' http://purl.obolibrary.org/obo/MONDO_0008043 myoclonus-cerebellar ataxia-deafness syndrome 'myoclonus-cerebellar ataxia-deafness syndrome' SubClassOf 'syndromic genetic hearing loss' 'myoclonus-cerebellar ataxia-deafness syndrome' SubClassOf 'hereditary ataxia' http://purl.obolibrary.org/obo/MONDO_0011694 spinocerebellar ataxia type 15/16 'spinocerebellar ataxia type 15/16' SubClassOf 'autosomal dominant cerebellar ataxia type I' http://purl.obolibrary.org/obo/MONDO_0008051 tubular aggregate myopathy 'tubular aggregate myopathy' SubClassOf 'congenital myopathy' 'tubular aggregate myopathy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008050 MYH7-related skeletal myopathy 'MYH7-related skeletal myopathy' SubClassOf 'congenital nervous system disorder' 'MYH7-related skeletal myopathy' SubClassOf 'qualitative or quantitative defects of beta-myosin heavy chain (MYH7)' 'MYH7-related skeletal myopathy' SubClassOf 'congenital myopathy' 'MYH7-related skeletal myopathy' SubClassOf 'distal myopathy' http://purl.obolibrary.org/obo/MONDO_0011698 glycine N-methyltransferase deficiency 'glycine N-methyltransferase deficiency' SubClassOf 'disorder of methionine catabolism' http://purl.obolibrary.org/obo/MONDO_0021028 genetic nail anomaly 'genetic nail anomaly' SubClassOf 'nail anomaly' 'genetic nail anomaly' EquivalentTo 'nail anomaly' and ('has modifier' some 'inherited') 'genetic nail anomaly' SubClassOf 'genetic epidermal appendage anomaly' http://purl.obolibrary.org/obo/MONDO_0021029 genetic sebaceous gland anomaly 'genetic sebaceous gland anomaly' SubClassOf 'sebaceous gland anomaly' 'genetic sebaceous gland anomaly' SubClassOf 'genetic epidermal appendage anomaly' 'genetic sebaceous gland anomaly' EquivalentTo 'sebaceous gland anomaly' and ('has modifier' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0008059 Naegeli-Franceschetti-Jadassohn syndrome 'Naegeli-Franceschetti-Jadassohn syndrome' SubClassOf 'hyperpigmentation of the skin' 'Naegeli-Franceschetti-Jadassohn syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'Naegeli-Franceschetti-Jadassohn syndrome' SubClassOf 'diffuse palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0008058 cylindrical spirals myopathy 'cylindrical spirals myopathy' SubClassOf 'congenital myopathy' http://purl.obolibrary.org/obo/MONDO_0008056 myotonic dystrophy type 1 'myotonic dystrophy type 1' SubClassOf 'neuro-ophthalmological disease' 'myotonic dystrophy type 1' SubClassOf 'eyelids malposition disorder' 'myotonic dystrophy type 1' SubClassOf 'myotonic dystrophy' 'myotonic dystrophy type 1' SubClassOf 'familial hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0008061 nail-patella syndrome 'nail-patella syndrome' SubClassOf 'eye disease' 'nail-patella syndrome' SubClassOf 'patellar dysostosis' 'nail-patella syndrome' SubClassOf 'syndromic nail anomaly' 'nail-patella syndrome' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0008060 nonsyndromic congenital nail disorder 1 'nonsyndromic congenital nail disorder 1' SubClassOf 'has modifier' some 'congenital' 'nonsyndromic congenital nail disorder 1' SubClassOf 'inherited isolated nail anomaly' http://purl.obolibrary.org/obo/MONDO_0021018 autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) 'autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)' SubClassOf 'muscular dystrophy, limb-girdle, autosomal dominant' http://purl.obolibrary.org/obo/MONDO_0021019 X-linked recessive ocular albinism 'X-linked recessive ocular albinism' SubClassOf 'X-linked recessive disease' 'X-linked recessive ocular albinism' SubClassOf 'ocular albinism' http://purl.obolibrary.org/obo/MONDO_0008075 neurofibromatosis type 3 'neurofibromatosis type 3' SubClassOf 'neurofibromatosis' 'neurofibromatosis type 3' SubClassOf 'inherited skin tumor' 'neurofibromatosis type 3' SubClassOf 'schwannoma' 'neurofibromatosis type 3' SubClassOf 'hyperpigmentation of the skin' 'neurofibromatosis type 3' SubClassOf 'developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0008073 familial juvenile hyperuricemic nephropathy type 1 'familial juvenile hyperuricemic nephropathy type 1' SubClassOf 'inborn disorder of purine metabolism' 'familial juvenile hyperuricemic nephropathy type 1' SubClassOf 'familial cystic renal disease' 'familial juvenile hyperuricemic nephropathy type 1' SubClassOf 'familial juvenile hyperuricemic nephropathy' http://purl.obolibrary.org/obo/MONDO_0008071 autosomal dominant progressive nephropathy with hypertension 'autosomal dominant progressive nephropathy with hypertension' SubClassOf 'genetic hypertension' http://purl.obolibrary.org/obo/MONDO_0008083 ceroid lipofuscinosis, neuronal, 4 (Kufs type) 'ceroid lipofuscinosis, neuronal, 4 (Kufs type)' SubClassOf 'adult neuronal ceroid lipofuscinosis' http://purl.obolibrary.org/obo/MONDO_0008082 multiple endocrine neoplasia type 2B 'multiple endocrine neoplasia type 2B' SubClassOf 'multiple endocrine neoplasia type 2' 'multiple endocrine neoplasia type 2B' SubClassOf 'Malignant Urinary System Neoplasm' 'multiple endocrine neoplasia type 2B' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0008087 hereditary neuropathy with liability to pressure palsies 'hereditary neuropathy with liability to pressure palsies' SubClassOf 'chromosome 17p deletion' 'hereditary neuropathy with liability to pressure palsies' SubClassOf 'autosomal dominant hereditary demyelinating motor and sensory neuropathy' http://purl.obolibrary.org/obo/MONDO_0008097 linear nevus sebaceous syndrome 'linear nevus sebaceous syndrome' SubClassOf 'Benign Conjunctival Neoplasm' 'linear nevus sebaceous syndrome' SubClassOf 'bulbar conjunctival dermoid or conjunctival dermolipoma' 'linear nevus sebaceous syndrome' SubClassOf 'hamartoma' 'linear nevus sebaceous syndrome' SubClassOf 'palpebral nevus' 'linear nevus sebaceous syndrome' SubClassOf 'inherited skin tumor' 'linear nevus sebaceous syndrome' SubClassOf 'developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0008094 familial multiple nevi flammei 'familial multiple nevi flammei' SubClassOf 'genetic skin disease' 'familial multiple nevi flammei' SubClassOf 'capillary malformation' 'familial multiple nevi flammei' SubClassOf 'genetic vascular anomaly' 'familial multiple nevi flammei' SubClassOf 'vascular ectasia' 'familial multiple nevi flammei' SubClassOf 'skin vascular disease' http://purl.obolibrary.org/obo/MONDO_0008092 hereditary neutrophilia 'hereditary neutrophilia' SubClassOf 'genetic disorder' 'hereditary neutrophilia' SubClassOf 'leukocyte disorder' http://purl.obolibrary.org/obo/MONDO_0008090 cyclic hematopoiesis 'cyclic hematopoiesis' SubClassOf 'constitutional neutropenia' http://purl.obolibrary.org/obo/MONDO_0021055 classic familial adenomatous polyposis 'classic familial adenomatous polyposis' SubClassOf 'classic or attenuated familial adenomatous polyposis' http://purl.obolibrary.org/obo/MONDO_0008098 mesomelic dwarfism, Nievergelt type 'mesomelic dwarfism, Nievergelt type' SubClassOf 'mesomelic and rhizo-mesomelic dysplasia' http://purl.obolibrary.org/obo/MONDO_0011506 familial infantile myoclonic epilepsy 'familial infantile myoclonic epilepsy' SubClassOf 'monogenic epilepsy' 'familial infantile myoclonic epilepsy' SubClassOf 'myoclonic epilepsy of infancy' 'familial infantile myoclonic epilepsy' SubClassOf 'early myoclonic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0011500 Becker nevus syndrome 'Becker nevus syndrome' SubClassOf 'female reproductive system neoplasm' 'Becker nevus syndrome' SubClassOf 'breast benign neoplasm' 'Becker nevus syndrome' SubClassOf 'deficient breast volume or number' 'Becker nevus syndrome' SubClassOf 'inherited skin tumor' 'Becker nevus syndrome' SubClassOf 'developmental defect during embryogenesis' 'Becker nevus syndrome' SubClassOf 'melanocytic nevus' 'Becker nevus syndrome' SubClassOf 'benign reproductive system neoplasm' http://purl.obolibrary.org/obo/MONDO_0011501 wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia 'wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia' SubClassOf 'genetic disorder' 'wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia' SubClassOf 'musculoskeletal system disease' http://purl.obolibrary.org/obo/MONDO_0011517 pseudohyperaldosteronism type 2 'pseudohyperaldosteronism type 2' SubClassOf 'hypertension, pregnancy-induced' 'pseudohyperaldosteronism type 2' SubClassOf 'genetic hypertension' 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' 'Wiedemann-Steiner syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Wiedemann-Steiner syndrome' SubClassOf 'genetic nervous system disorder' 'Wiedemann-Steiner syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0011512 Brooke-Spiegler syndrome 'Brooke-Spiegler syndrome' SubClassOf 'palpebral piliary tumor' 'Brooke-Spiegler syndrome' SubClassOf 'autosomal dominant disease' 'Brooke-Spiegler syndrome' SubClassOf 'inherited skin tumor' http://purl.obolibrary.org/obo/MONDO_0011510 Bohring-Opitz syndrome 'Bohring-Opitz syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Bohring-Opitz syndrome' SubClassOf 'genetic nervous system disorder' 'Bohring-Opitz syndrome' SubClassOf 'syndromic intellectual disability' 'Bohring-Opitz syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Bohring-Opitz syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0011527 Charcot-Marie-Tooth disease type 4E 'Charcot-Marie-Tooth disease type 4E' SubClassOf 'neuropathy, congenital hypomelinating' 'Charcot-Marie-Tooth disease type 4E' SubClassOf 'Charcot-Marie-Tooth disease type 4' http://purl.obolibrary.org/obo/MONDO_0011524 Dianzani autoimmune lymphoproliferative disease 'Dianzani autoimmune lymphoproliferative disease' SubClassOf 'lymphoproliferative syndrome' http://purl.obolibrary.org/obo/MONDO_0011528 hyper-IgM syndrome type 2 'hyper-IgM syndrome type 2' SubClassOf 'autosomal recessive disease' 'hyper-IgM syndrome type 2' SubClassOf 'hyper-IgM syndrome without susceptibility to opportunistic infections' http://purl.obolibrary.org/obo/MONDO_0011529 spinocerebellar ataxia type 13 'spinocerebellar ataxia type 13' SubClassOf 'autosomal dominant cerebellar ataxia type I' http://purl.obolibrary.org/obo/MONDO_0011522 hereditary spastic paraplegia 14 'hereditary spastic paraplegia 14' SubClassOf 'pure or complex autosomal recessive spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0011537 macrocephaly-autism syndrome 'macrocephaly-autism syndrome' SubClassOf 'has modifier' some 'rare' 'macrocephaly-autism syndrome' SubClassOf 'autosomal dominant disease' 'macrocephaly-autism syndrome' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0011539 nemaline myopathy 5 'nemaline myopathy 5' SubClassOf 'nemaline myopathy' 'nemaline myopathy 5' SubClassOf 'qualitative or quantitative defects of troponin' 'nemaline myopathy 5' SubClassOf 'congenital nervous system disorder' 'nemaline myopathy 5' SubClassOf 'congenital nemaline myopathy' http://purl.obolibrary.org/obo/MONDO_0011530 mesomelic dysplasia, Savarirayan type 'mesomelic dysplasia, Savarirayan type' SubClassOf 'mesomelic and rhizo-mesomelic dysplasia' http://purl.obolibrary.org/obo/MONDO_0011533 temtamy preaxial brachydactyly syndrome 'temtamy preaxial brachydactyly syndrome' SubClassOf 'congenital nervous system disorder' 'temtamy preaxial brachydactyly syndrome' SubClassOf 'syndromic genetic hearing loss' 'temtamy preaxial brachydactyly syndrome' SubClassOf 'congenital limb malformation' 'temtamy preaxial brachydactyly syndrome' SubClassOf 'congenital disorder of glycosylation-related bone disorder' 'temtamy preaxial brachydactyly syndrome' SubClassOf 'dysostosis of genetic origin' 'temtamy preaxial brachydactyly syndrome' SubClassOf 'disorder of O-xylosylglycan synthesis' 'temtamy preaxial brachydactyly syndrome' SubClassOf 'autosomal recessive disease' 'temtamy preaxial brachydactyly syndrome' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0011534 Charcot-Marie-Tooth disease type 4G 'Charcot-Marie-Tooth disease type 4G' SubClassOf 'motor peripheral neuropathy' 'Charcot-Marie-Tooth disease type 4G' SubClassOf 'Charcot-Marie-Tooth disease type 4' http://purl.obolibrary.org/obo/MONDO_0011532 hereditary spastic paraplegia 13 'hereditary spastic paraplegia 13' SubClassOf 'pure or complex autosomal dominant spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0011540 spinocerebellar ataxia type 14 'spinocerebellar ataxia type 14' SubClassOf 'autosomal dominant cerebellar ataxia type I' http://purl.obolibrary.org/obo/MONDO_0011541 dilated cardiomyopathy 1J 'dilated cardiomyopathy 1J' SubClassOf 'familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0011559 benign recurrent intrahepatic cholestasis type 2 'benign recurrent intrahepatic cholestasis type 2' SubClassOf 'benign recurrent intrahepatic cholestasis' http://purl.obolibrary.org/obo/MONDO_0011551 TH-deficient dopa-responsive dystonia 'TH-deficient dopa-responsive dystonia' SubClassOf 'autosomal recessive disease' 'TH-deficient dopa-responsive dystonia' SubClassOf 'disorder of tyrosine metabolism' 'TH-deficient dopa-responsive dystonia' SubClassOf 'cerebral organic aciduria' 'TH-deficient dopa-responsive dystonia' SubClassOf 'disorder of pterin metabolism' 'TH-deficient dopa-responsive dystonia' SubClassOf 'dopa-responsive dystonia' 'TH-deficient dopa-responsive dystonia' SubClassOf 'tyrosine hydroxylase deficiency' http://purl.obolibrary.org/obo/MONDO_0011555 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome 'radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome' SubClassOf 'dysostosis of genetic origin' 'radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome' SubClassOf 'congenital hematological disorder' 'radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome' SubClassOf 'syndromic constitutional thrombocytopenia' 'radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome' SubClassOf 'congenital limb malformation' http://purl.obolibrary.org/obo/MONDO_0011569 Charcot-Marie-Tooth disease type 2B1 'Charcot-Marie-Tooth disease type 2B1' SubClassOf 'autosomal recessive axonal hereditary motor and sensory neuropathy' 'Charcot-Marie-Tooth disease type 2B1' SubClassOf 'laminopathy' 'Charcot-Marie-Tooth disease type 2B1' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://purl.obolibrary.org/obo/MONDO_0011579 late-onset retinal degeneration 'late-onset retinal degeneration' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0011578 familial papillary thyroid carcinoma with renal papillary neoplasia 'familial papillary thyroid carcinoma with renal papillary neoplasia' SubClassOf 'familial nonmedullary thyroid carcinoma' 'familial papillary thyroid carcinoma with renal papillary neoplasia' SubClassOf 'inherited renal cancer-predisposing syndrome' 'familial papillary thyroid carcinoma with renal papillary neoplasia' SubClassOf 'renal carcinoma' http://purl.obolibrary.org/obo/MONDO_0011575 cerebrooculonasal syndrome 'cerebrooculonasal syndrome' SubClassOf 'syndromic intellectual disability' 'cerebrooculonasal syndrome' SubClassOf 'congenital nervous system disorder' 'cerebrooculonasal syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0011576 familial hyperaldosteronism type II 'familial hyperaldosteronism type II' SubClassOf 'familial hyperaldosteronism' 'familial hyperaldosteronism type II' SubClassOf 'adrenal cortex neoplasm' 'familial hyperaldosteronism type II' SubClassOf 'adrenal/paraganglial tumor' http://purl.obolibrary.org/obo/MONDO_0011570 Charcot-Marie-Tooth disease type 2B2 'Charcot-Marie-Tooth disease type 2B2' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'Charcot-Marie-Tooth disease type 2B2' SubClassOf 'autosomal recessive axonal hereditary motor and sensory neuropathy' http://purl.obolibrary.org/obo/MONDO_0011585 autosomal recessive distal spinal muscular atrophy 2 'autosomal recessive distal spinal muscular atrophy 2' SubClassOf 'spinal muscular atrophy' 'autosomal recessive distal spinal muscular atrophy 2' SubClassOf 'autosomal recessive distal hereditary motor neuropathy' http://purl.obolibrary.org/obo/MONDO_0011582 multiple mitochondrial dysfunctions syndrome 1 'multiple mitochondrial dysfunctions syndrome 1' SubClassOf 'fatal multiple mitochondrial dysfunctions syndrome' http://purl.obolibrary.org/obo/MONDO_0011595 nonsyndromic congenital nail disorder 7 'nonsyndromic congenital nail disorder 7' SubClassOf 'inherited isolated nail anomaly' 'nonsyndromic congenital nail disorder 7' SubClassOf 'has modifier' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0011599 birdshot chorioretinopathy 'birdshot chorioretinopathy' SubClassOf 'non-infectious posterior uveitis' http://purl.obolibrary.org/obo/MONDO_0011405 poikiloderma with neutropenia 'poikiloderma with neutropenia' SubClassOf 'disease has feature' some 'neutropenia' 'poikiloderma with neutropenia' SubClassOf 'hereditary poikiloderma' 'poikiloderma with neutropenia' SubClassOf 'constitutional neutropenia' 'poikiloderma with neutropenia' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0011408 hereditary spastic paraplegia 10 'hereditary spastic paraplegia 10' SubClassOf 'pure or complex autosomal dominant spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0011402 congenital cataracts-facial dysmorphism-neuropathy syndrome 'congenital cataracts-facial dysmorphism-neuropathy syndrome' SubClassOf 'autosomal recessive hereditary demyelinating motor and sensory neuropathy' 'congenital cataracts-facial dysmorphism-neuropathy syndrome' SubClassOf 'partial duplication of the short arm of chromosome 16' 'congenital cataracts-facial dysmorphism-neuropathy syndrome' SubClassOf 'syndromic intellectual disability' 'congenital cataracts-facial dysmorphism-neuropathy syndrome' SubClassOf 'congenital nervous system disorder' 'congenital cataracts-facial dysmorphism-neuropathy syndrome' SubClassOf 'syndromic epicanthus' 'congenital cataracts-facial dysmorphism-neuropathy syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'congenital cataracts-facial dysmorphism-neuropathy syndrome' SubClassOf 'autosomal recessive degenerative and progressive cerebellar ataxia' 'congenital cataracts-facial dysmorphism-neuropathy syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0011417 hemochromatosis type 3 'hemochromatosis type 3' SubClassOf 'has modifier' some 'rare' 'hemochromatosis type 3' SubClassOf 'hereditary hemochromatosis' http://purl.obolibrary.org/obo/MONDO_0011414 Peters anomaly 'Peters anomaly' SubClassOf 'anterior segment dysgenesis' 'Peters anomaly' SubClassOf 'corneal disease' http://purl.obolibrary.org/obo/MONDO_0011412 familial encephalopathy with neuroserpin inclusion bodies 'familial encephalopathy with neuroserpin inclusion bodies' SubClassOf 'progressive myoclonus epilepsy' http://purl.obolibrary.org/obo/MONDO_0011411 Chudley-McCullough syndrome 'Chudley-McCullough syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0011426 aceruloplasminemia 'aceruloplasminemia' SubClassOf 'inherited deficiency anemia' 'aceruloplasminemia' SubClassOf 'eye degenerative disorder' 'aceruloplasminemia' SubClassOf 'disorder of iron metabolism and transport' 'aceruloplasminemia' SubClassOf 'neurodegeneration with brain iron accumulation' 'aceruloplasminemia' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0011420 short stature due to partial GHR deficiency 'short stature due to partial GHR deficiency' SubClassOf 'growth hormone insensitivity syndrome' 'short stature due to partial GHR deficiency' SubClassOf 'pituitary dwarfism' http://purl.obolibrary.org/obo/MONDO_0011423 autosomal recessive limb-girdle muscular dystrophy type 2E 'autosomal recessive limb-girdle muscular dystrophy type 2E' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' 'autosomal recessive limb-girdle muscular dystrophy type 2E' SubClassOf 'familial dilated cardiomyopathy' 'autosomal recessive limb-girdle muscular dystrophy type 2E' SubClassOf 'qualitative or quantitative defects of beta-sarcoglycan' http://purl.obolibrary.org/obo/MONDO_0011424 Carney triad 'Carney triad' SubClassOf 'disease has feature' some 'gastrointestinal stromal tumor' 'Carney triad' SubClassOf 'multiple polyglandular tumor' 'Carney triad' SubClassOf 'disease has feature' some 'extra-adrenal sympathetic paraganglioma' 'Carney triad' SubClassOf 'has modifier' some 'acquired' 'Carney triad' SubClassOf 'disease has feature' some 'lung neoplasm' 'Carney triad' SubClassOf 'neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0011422 autosomal recessive proximal renal tubular acidosis 'autosomal recessive proximal renal tubular acidosis' SubClassOf 'proximal renal tubular acidosis' 'autosomal recessive proximal renal tubular acidosis' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0011439 spinocerebellar ataxia type 12 'spinocerebellar ataxia type 12' SubClassOf 'autosomal dominant cerebellar ataxia type I' http://purl.obolibrary.org/obo/MONDO_0011436 autosomal recessive distal spinal muscular atrophy 1 'autosomal recessive distal spinal muscular atrophy 1' SubClassOf 'spinal muscular atrophy' 'autosomal recessive distal spinal muscular atrophy 1' SubClassOf 'autosomal recessive distal hereditary motor neuropathy' http://purl.obolibrary.org/obo/MONDO_0011430 pulverulent cataract 'pulverulent cataract' SubClassOf 'early-onset non-syndromic cataract' http://purl.obolibrary.org/obo/MONDO_0011432 blepharophimosis - intellectual disability syndrome, Verloes type 'blepharophimosis - intellectual disability syndrome, Verloes type' SubClassOf 'blepharophimosis - intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0011449 Salla disease 'Salla disease' SubClassOf 'free sialic acid storage disease' http://purl.obolibrary.org/obo/MONDO_0011448 PPARG-related familial partial lipodystrophy 'PPARG-related familial partial lipodystrophy' SubClassOf 'familial partial lipodystrophy' http://purl.obolibrary.org/obo/MONDO_0011445 hereditary spastic paraplegia 11 'hereditary spastic paraplegia 11' SubClassOf 'syndromic intellectual disability' 'hereditary spastic paraplegia 11' SubClassOf 'pure or complex autosomal recessive spastic paraplegia' 'hereditary spastic paraplegia 11' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0011457 ataxia-telangiectasia-like disorder 'ataxia-telangiectasia-like disorder' SubClassOf 'inherited neurodegenerative disorder' 'ataxia-telangiectasia-like disorder' SubClassOf 'inherited nervous system cancer-predisposing syndrome' 'ataxia-telangiectasia-like disorder' SubClassOf 'skin vascular disease' 'ataxia-telangiectasia-like disorder' SubClassOf 'neurovascular disorder' 'ataxia-telangiectasia-like disorder' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0011454 patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome 'patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome' SubClassOf 'heart-hand syndrome' 'patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome' SubClassOf 'heart disease' http://purl.obolibrary.org/obo/MONDO_0011469 congenital amegakaryocytic thrombocytopenia 'congenital amegakaryocytic thrombocytopenia' SubClassOf 'isolated constitutional thrombocytopenia' 'congenital amegakaryocytic thrombocytopenia' SubClassOf 'inherited aplastic anemia' 'congenital amegakaryocytic thrombocytopenia' SubClassOf 'congenital anemia' http://purl.obolibrary.org/obo/MONDO_0011464 spinocerebellar ataxia type 11 'spinocerebellar ataxia type 11' SubClassOf 'autosomal dominant cerebellar ataxia type III' http://purl.obolibrary.org/obo/MONDO_0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome 'pyogenic arthritis-pyoderma gangrenosum-acne syndrome' SubClassOf 'hereditary disorder of connective tissue' 'pyogenic arthritis-pyoderma gangrenosum-acne syndrome' SubClassOf 'primary immunodeficiency due to a genetic defect in innate immunity' 'pyogenic arthritis-pyoderma gangrenosum-acne syndrome' SubClassOf 'pyogenic autoinflammatory syndrome' http://purl.obolibrary.org/obo/MONDO_0011468 hereditary motor and sensory neuropathy, Okinawa type 'hereditary motor and sensory neuropathy, Okinawa type' SubClassOf 'autosomal dominant hereditary axonal motor and sensory neuropathy' 'hereditary motor and sensory neuropathy, Okinawa type' SubClassOf 'motor peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0011466 distal myopathy, Welander type 'distal myopathy, Welander type' SubClassOf 'autosomal dominant distal myopathy' http://purl.obolibrary.org/obo/MONDO_0011475 Charcot-Marie-Tooth disease type 4B2 'Charcot-Marie-Tooth disease type 4B2' SubClassOf 'Charcot-Marie-Tooth disease type 4' http://purl.obolibrary.org/obo/MONDO_0011472 epidermolysis bullosa simplex due to plakophilin deficiency 'epidermolysis bullosa simplex due to plakophilin deficiency' SubClassOf 'suprabasal epidermolysis bullosa simplex' 'epidermolysis bullosa simplex due to plakophilin deficiency' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0011476 MHC class I deficiency 'MHC class I deficiency' SubClassOf 'non-SCID combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0011486 congenital muscular dystrophy 1B 'congenital muscular dystrophy 1B' SubClassOf 'congenital muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0011489 hereditary spastic paraplegia 12 'hereditary spastic paraplegia 12' SubClassOf 'autosomal dominant pure spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0011487 Huntington disease-like 3 'Huntington disease-like 3' SubClassOf 'Huntington disease-like syndrome' 'Huntington disease-like 3' SubClassOf 'disease arises from feature' some 'neurodegenerative disease' 'Huntington disease-like 3' SubClassOf 'movement disorder' http://purl.obolibrary.org/obo/MONDO_0011481 craniosynostosis 2 'craniosynostosis 2' SubClassOf 'syndromic craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis 'mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis' SubClassOf 'hereditary disorder of connective tissue' 'mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis' SubClassOf 'spondyloepiphyseal dysplasia' 'mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis' SubClassOf 'type 2 collagenopathy' http://purl.obolibrary.org/obo/MONDO_0011497 hereditary North American Indian childhood cirrhosis 'hereditary North American Indian childhood cirrhosis' SubClassOf 'progressive familial intrahepatic cholestasis' http://purl.obolibrary.org/obo/MONDO_0011499 Okamoto syndrome 'Okamoto syndrome' SubClassOf 'syndromic intellectual disability' 'Okamoto syndrome' SubClassOf 'congenital nervous system disorder' 'Okamoto syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0011493 Stickler syndrome type 2 'Stickler syndrome type 2' SubClassOf 'Stickler syndrome' http://purl.obolibrary.org/obo/MONDO_0018749 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome 'hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome' SubClassOf 'beta-thalassemia and related diseases' http://purl.obolibrary.org/obo/MONDO_0016107 myotonic dystrophy 'myotonic dystrophy' SubClassOf 'genetic nervous system disorder' 'myotonic dystrophy' SubClassOf 'myotonic syndrome' 'myotonic dystrophy' SubClassOf 'progressive muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0016108 autosomal dominant distal myopathy 'autosomal dominant distal myopathy' SubClassOf 'autosomal dominant disease' 'autosomal dominant distal myopathy' SubClassOf 'distal myopathy' 'autosomal dominant distal myopathy' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0016109 autosomal recessive distal myopathy 'autosomal recessive distal myopathy' SubClassOf 'autosomal recessive disease' 'autosomal recessive distal myopathy' SubClassOf 'genetic nervous system disorder' 'autosomal recessive distal myopathy' SubClassOf 'distal myopathy' http://purl.obolibrary.org/obo/MONDO_0016103 isolated asymptomatic elevation of creatine phosphokinase 'isolated asymptomatic elevation of creatine phosphokinase' SubClassOf 'qualitative or quantitative defects of dystrophin' 'isolated asymptomatic elevation of creatine phosphokinase' SubClassOf 'caveolinopathy' http://purl.obolibrary.org/obo/MONDO_0018768 familial cold autoinflammatory syndrome 'familial cold autoinflammatory syndrome' SubClassOf 'cryopyrin-associated periodic syndrome' http://purl.obolibrary.org/obo/MONDO_0016106 progressive muscular dystrophy 'progressive muscular dystrophy' SubClassOf 'muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0018762 non-acquired combined pituitary hormone deficiency 'non-acquired combined pituitary hormone deficiency' SubClassOf 'non-acquired pituitary hormone deficiency' http://purl.obolibrary.org/obo/MONDO_0016118 muscular glycogenosis 'muscular glycogenosis' SubClassOf 'metabolic myopathy' http://purl.obolibrary.org/obo/MONDO_0016114 bulbospinal muscular atrophy of childhood 'bulbospinal muscular atrophy of childhood' SubClassOf 'bulbospinal muscular atrophy' http://purl.obolibrary.org/obo/MONDO_0016115 bulbospinal muscular atrophy of adulthood 'bulbospinal muscular atrophy of adulthood' SubClassOf 'bulbospinal muscular atrophy' http://purl.obolibrary.org/obo/MONDO_0016116 generalized bulbospinal muscular atrophy 'generalized bulbospinal muscular atrophy' SubClassOf 'bulbospinal muscular atrophy' http://purl.obolibrary.org/obo/MONDO_0016117 muscular lipidosis 'muscular lipidosis' SubClassOf 'metabolic myopathy' http://purl.obolibrary.org/obo/MONDO_0016110 non-dystrophic myopathy 'non-dystrophic myopathy' SubClassOf 'myopathy' 'non-dystrophic myopathy' SubClassOf 'skeletal muscle disorder' http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome 'Joubert syndrome' SubClassOf 'syndromic disease' 'Joubert syndrome' SubClassOf 'malformation of the cerebellar vermis' 'Joubert syndrome' SubClassOf 'ciliopathy' 'Joubert syndrome' SubClassOf 'Joubert syndrome and related disorders' http://purl.obolibrary.org/obo/MONDO_0016112 inclusion myopathy 'inclusion myopathy' SubClassOf 'non-dystrophic myopathy' http://purl.obolibrary.org/obo/MONDO_0016113 bulbospinal muscular atrophy 'bulbospinal muscular atrophy' SubClassOf 'spinal muscular atrophy' http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome 'Jeune syndrome' SubClassOf 'inherited renal tubular disease' 'Jeune syndrome' SubClassOf 'short rib-polydactyly syndrome' 'Jeune syndrome' SubClassOf 'nephropathy-associated ciliopathy' http://purl.obolibrary.org/obo/MONDO_0016121 congenital myotonia 'congenital myotonia' SubClassOf 'has modifier' some 'congenital' 'congenital myotonia' SubClassOf 'myotonic syndrome' http://purl.obolibrary.org/obo/MONDO_0016120 myotonic syndrome 'myotonic syndrome' SubClassOf 'syndromic disease' 'myotonic syndrome' SubClassOf 'skeletal muscle disorder' http://purl.obolibrary.org/obo/MONDO_0018781 KID syndrome 'KID syndrome' SubClassOf 'diffuse palmoplantar keratoderma' 'KID syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'KID syndrome' SubClassOf 'syndromic genetic hearing loss' 'KID syndrome' SubClassOf 'autosomal ichthyosis syndrome' http://purl.obolibrary.org/obo/MONDO_0016139 qualitative or quantitative protein defects in neuromuscular diseases 'qualitative or quantitative protein defects in neuromuscular diseases' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0016147 qualitative or quantitative defects of dystrophin 'qualitative or quantitative defects of dystrophin' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' http://purl.obolibrary.org/obo/MONDO_0016149 qualitative or quantitative defects of merosin 'qualitative or quantitative defects of merosin' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' http://purl.obolibrary.org/obo/MONDO_0016143 qualitative or quantitative defects of gamma-sarcoglycan 'qualitative or quantitative defects of gamma-sarcoglycan' SubClassOf 'sarcoglycanopathy' http://purl.obolibrary.org/obo/MONDO_0016144 qualitative or quantitative defects of delta-sarcoglycan 'qualitative or quantitative defects of delta-sarcoglycan' SubClassOf 'sarcoglycanopathy' http://purl.obolibrary.org/obo/MONDO_0016145 qualitative or quantitative defects of dysferlin 'qualitative or quantitative defects of dysferlin' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' http://purl.obolibrary.org/obo/MONDO_0016146 caveolinopathy 'caveolinopathy' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' http://purl.obolibrary.org/obo/MONDO_0016140 sarcoglycanopathy 'sarcoglycanopathy' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' http://purl.obolibrary.org/obo/MONDO_0016141 qualitative or quantitative defects of alpha-sarcoglycan 'qualitative or quantitative defects of alpha-sarcoglycan' SubClassOf 'sarcoglycanopathy' http://purl.obolibrary.org/obo/MONDO_0016142 qualitative or quantitative defects of beta-sarcoglycan 'qualitative or quantitative defects of beta-sarcoglycan' SubClassOf 'sarcoglycanopathy' http://purl.obolibrary.org/obo/MONDO_0016160 X-linked intellectual disability-epilepsy syndrome 'X-linked intellectual disability-epilepsy syndrome' SubClassOf 'monogenic epilepsy' 'X-linked intellectual disability-epilepsy syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0016154 qualitative or quantitative defects of myotubularin 'qualitative or quantitative defects of myotubularin' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' http://purl.obolibrary.org/obo/MONDO_0016155 qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan 'qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' SubClassOf 'qualitative or quantitative defects of alpha-dystroglycan' 'qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' SubClassOf 'disorder of protein O-glycosylation' 'qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0016156 qualitative or quantitative defects of FKRP 'qualitative or quantitative defects of FKRP' SubClassOf 'qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' http://purl.obolibrary.org/obo/MONDO_0016157 qualitative or quantitative defects of fukutin 'qualitative or quantitative defects of fukutin' SubClassOf 'qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' http://purl.obolibrary.org/obo/MONDO_0016150 qualitative or quantitative defects of integrin alpha-7 'qualitative or quantitative defects of integrin alpha-7' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' http://purl.obolibrary.org/obo/MONDO_0016151 qualitative or quantitative defects of perlecan 'qualitative or quantitative defects of perlecan' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' http://purl.obolibrary.org/obo/MONDO_0016152 qualitative or quantitative defects of calpain 'qualitative or quantitative defects of calpain' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' http://purl.obolibrary.org/obo/MONDO_0016153 qualitative or quantitative defects of TRIM32 'qualitative or quantitative defects of TRIM32' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' http://purl.obolibrary.org/obo/MONDO_0016165 genetic hypoparathyroidism 'genetic hypoparathyroidism' SubClassOf 'inborn errors of metabolism' 'genetic hypoparathyroidism' SubClassOf 'hypoparathyroidism' 'genetic hypoparathyroidism' EquivalentTo 'hypoparathyroidism' and ('has modifier' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0016166 genetic hyperparathyroidism 'genetic hyperparathyroidism' SubClassOf 'inborn errors of metabolism' 'genetic hyperparathyroidism' EquivalentTo 'hyperparathyroidism' and ('has modifier' some 'inherited') 'genetic hyperparathyroidism' SubClassOf 'hyperparathyroidism' http://purl.obolibrary.org/obo/MONDO_0016168 cryopyrin-associated periodic syndrome 'cryopyrin-associated periodic syndrome' SubClassOf 'hereditary periodic fever syndrome' 'cryopyrin-associated periodic syndrome' SubClassOf 'primary immunodeficiency due to a genetic defect in innate immunity' http://purl.obolibrary.org/obo/MONDO_0016162 bilateral frontal polymicrogyria 'bilateral frontal polymicrogyria' SubClassOf 'bilateral polymicrogyria' http://purl.obolibrary.org/obo/MONDO_0016163 autosomal dominant cerebellar ataxia type II 'autosomal dominant cerebellar ataxia type II' SubClassOf 'autosomal dominant cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0016182 qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase 'qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase' SubClassOf 'qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' http://purl.obolibrary.org/obo/MONDO_0016175 cutis laxa 'cutis laxa' SubClassOf 'syndromic diaphragmatic or thoracic malformation' 'cutis laxa' SubClassOf 'syndromic diaphragmatic or abdominal wall malformation' 'cutis laxa' SubClassOf 'congenital entropion' 'cutis laxa' SubClassOf 'dermis elastic tissue disorder' http://purl.obolibrary.org/obo/MONDO_0016190 qualitative or quantitative defects of protein ZASP 'qualitative or quantitative defects of protein ZASP' SubClassOf 'qualitative or quantitative defects of myofibrillar proteins' http://purl.obolibrary.org/obo/MONDO_0016191 qualitative or quantitative defects of titin 'qualitative or quantitative defects of titin' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' http://purl.obolibrary.org/obo/MONDO_0016192 qualitative or quantitative defects of telethonin 'qualitative or quantitative defects of telethonin' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' http://purl.obolibrary.org/obo/MONDO_0016193 qualitative or quantitative defects of alpha-actin 'qualitative or quantitative defects of alpha-actin' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' http://purl.obolibrary.org/obo/MONDO_0016187 qualitative or quantitative defects of desmin 'qualitative or quantitative defects of desmin' SubClassOf 'qualitative or quantitative defects of myofibrillar proteins' http://purl.obolibrary.org/obo/MONDO_0016188 qualitative or quantitative defects of alphaB-cristallin 'qualitative or quantitative defects of alphaB-cristallin' SubClassOf 'qualitative or quantitative defects of myofibrillar proteins' http://purl.obolibrary.org/obo/MONDO_0016189 qualitative or quantitative defects of filamin C 'qualitative or quantitative defects of filamin C' SubClassOf 'qualitative or quantitative defects of myofibrillar proteins' http://purl.obolibrary.org/obo/MONDO_0016183 qualitative or quantitative defects of protein glycosyltransferase-like 'qualitative or quantitative defects of protein glycosyltransferase-like' SubClassOf 'qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' http://purl.obolibrary.org/obo/MONDO_0016184 qualitative or quantitative defects of protein O-mannosyltransferase 1 'qualitative or quantitative defects of protein O-mannosyltransferase 1' SubClassOf 'qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' http://purl.obolibrary.org/obo/MONDO_0016185 qualitative or quantitative defects of protein O-mannosyltransferase 2 'qualitative or quantitative defects of protein O-mannosyltransferase 2' SubClassOf 'qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' http://purl.obolibrary.org/obo/MONDO_0016186 qualitative or quantitative defects of myofibrillar proteins 'qualitative or quantitative defects of myofibrillar proteins' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' http://purl.obolibrary.org/obo/MONDO_0016198 qualitative or quantitative defects of plectin 'qualitative or quantitative defects of plectin' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' http://purl.obolibrary.org/obo/MONDO_0016199 qualitative or quantitative defects of protein SERCA1 'qualitative or quantitative defects of protein SERCA1' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' http://purl.obolibrary.org/obo/MONDO_0016194 qualitative or quantitative defects of nebulin 'qualitative or quantitative defects of nebulin' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' http://purl.obolibrary.org/obo/MONDO_0016195 qualitative or quantitative defects of beta-myosin heavy chain (MYH7) 'qualitative or quantitative defects of beta-myosin heavy chain (MYH7)' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' http://purl.obolibrary.org/obo/MONDO_0016196 qualitative or quantitative defects of emerin 'qualitative or quantitative defects of emerin' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' http://purl.obolibrary.org/obo/MONDO_0016197 qualitative or quantitative defects of selenoprotein N1 'qualitative or quantitative defects of selenoprotein N1' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' http://purl.obolibrary.org/obo/EFO_0011021 BRCA1 mutation carier status 'BRCA1 mutation carier status' SubClassOf 'is_about' some 'breast cancer' 'BRCA1 mutation carier status' SubClassOf 'carrier status' 'BRCA1 mutation carier status' SubClassOf 'is_about' some 'ovarian cancer' http://purl.obolibrary.org/obo/MONDO_0018612 congenital hypothyroidism 'congenital hypothyroidism' SubClassOf 'has modifier' some 'congenital' 'congenital hypothyroidism' SubClassOf 'has modifier' some 'rare' 'congenital hypothyroidism' EquivalentTo 'hypothyroidism' and ('has modifier' some 'congenital') 'congenital hypothyroidism' SubClassOf 'hypothyroidism' http://purl.obolibrary.org/obo/MONDO_0018631 Marie Unna hereditary hypotrichosis 'Marie Unna hereditary hypotrichosis' SubClassOf 'alopecia' http://purl.obolibrary.org/obo/MONDO_0018656 tremor-ataxia-central hypomyelination syndrome 'tremor-ataxia-central hypomyelination syndrome' SubClassOf 'eye degenerative disorder' 'tremor-ataxia-central hypomyelination syndrome' SubClassOf 'hereditary ataxia' 'tremor-ataxia-central hypomyelination syndrome' SubClassOf 'syndromic hereditary optic neuropathy' http://purl.obolibrary.org/obo/MONDO_0016006 Cockayne syndrome 'Cockayne syndrome' SubClassOf 'hereditary photodermatosis' 'Cockayne syndrome' SubClassOf 'DNA repair deficiency' 'Cockayne syndrome' SubClassOf 'syndromic genetic hearing loss' 'Cockayne syndrome' SubClassOf 'syndromic intellectual disability' 'Cockayne syndrome' SubClassOf 'syndromic retinitis pigmentosa' 'Cockayne syndrome' SubClassOf 'eye degenerative disorder' 'Cockayne syndrome' SubClassOf 'inherited neurodegenerative disorder' 'Cockayne syndrome' SubClassOf 'progeroid syndrome' 'Cockayne syndrome' SubClassOf 'developmental anomaly of metabolic origin' 'Cockayne syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0016000 familial isolated hypoparathyroidism due to impaired PTH secretion 'familial isolated hypoparathyroidism due to impaired PTH secretion' SubClassOf 'hypoparathyroidism, familial isolated 1' http://purl.obolibrary.org/obo/MONDO_0018663 regressive spondylometaphyseal dysplasia 'regressive spondylometaphyseal dysplasia' SubClassOf 'spondylometaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0016001 2-hydroxyglutaric aciduria '2-hydroxyglutaric aciduria' SubClassOf 'cerebral organic aciduria' '2-hydroxyglutaric aciduria' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0018662 autosomal recessive brachyolmia 'autosomal recessive brachyolmia' SubClassOf 'autosomal recessive disease' 'autosomal recessive brachyolmia' SubClassOf 'brachyolmia' http://purl.obolibrary.org/obo/MONDO_0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 'Ehlers-Danlos syndrome, kyphoscoliotic type 1' SubClassOf 'eye disease' 'Ehlers-Danlos syndrome, kyphoscoliotic type 1' SubClassOf 'autosomal recessive disease' 'Ehlers-Danlos syndrome, kyphoscoliotic type 1' SubClassOf 'kyphoscoliotic Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, kyphoscoliotic type 1' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018660 hemophilia 'hemophilia' SubClassOf 'coagulation protein disease' http://purl.obolibrary.org/obo/MONDO_0016027 benign neonatal seizures 'benign neonatal seizures' SubClassOf 'neonatal period electroclinical syndrome' 'benign neonatal seizures' SubClassOf 'neonatal epilepsy syndrome' 'benign neonatal seizures' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0016028 erythromelalgia 'erythromelalgia' SubClassOf 'peripheral vascular disease' 'erythromelalgia' SubClassOf 'neurovascular disorder' 'erythromelalgia' SubClassOf 'autosomal dominant hereditary sensory and autonomic neuropathy' http://purl.obolibrary.org/obo/MONDO_0016022 early myoclonic encephalopathy 'early myoclonic encephalopathy' SubClassOf 'mitochondrial substrate carrier disorder' 'early myoclonic encephalopathy' SubClassOf 'neonatal/infantile epilepsy syndrome' 'early myoclonic encephalopathy' SubClassOf 'genetic nervous system disorder' 'early myoclonic encephalopathy' SubClassOf 'neonatal period electroclinical syndrome' http://purl.obolibrary.org/obo/MONDO_0016024 shoulder and thorax deformity-congenital heart disease syndrome 'shoulder and thorax deformity-congenital heart disease syndrome' SubClassOf 'dysostosis of genetic origin' 'shoulder and thorax deformity-congenital heart disease syndrome' SubClassOf 'congenital limb malformation' 'shoulder and thorax deformity-congenital heart disease syndrome' SubClassOf 'thoracic malformation' http://purl.obolibrary.org/obo/MONDO_0016025 myoclonic-astastic epilepsy 'myoclonic-astastic epilepsy' SubClassOf 'childhood-onset epilepsy syndrome' 'myoclonic-astastic epilepsy' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0016020 frontal encephalocele 'frontal encephalocele' SubClassOf 'isolated encephalocele' http://purl.obolibrary.org/obo/MONDO_0016033 Cornelia de Lange syndrome 'Cornelia de Lange syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Cornelia de Lange syndrome' SubClassOf 'congenital nervous system disorder' 'Cornelia de Lange syndrome' SubClassOf 'congenital limb malformation' 'Cornelia de Lange syndrome' SubClassOf 'dysostosis of genetic origin' 'Cornelia de Lange syndrome' SubClassOf 'syndromic intellectual disability' 'Cornelia de Lange syndrome' SubClassOf 'genetic nervous system disorder' 'Cornelia de Lange syndrome' SubClassOf 'syndromic diaphragmatic or abdominal wall malformation' 'Cornelia de Lange syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Cornelia de Lange syndrome' SubClassOf 'syndromic diaphragmatic or thoracic malformation' http://purl.obolibrary.org/obo/MONDO_0016032 femoral agenesis/hypoplasia 'femoral agenesis/hypoplasia' SubClassOf 'non-syndromic limb reduction defect' http://purl.obolibrary.org/obo/MONDO_0016048 isolated autosomal dominant hypomagnesemia, Glaudemans type 'isolated autosomal dominant hypomagnesemia, Glaudemans type' SubClassOf 'familial primary hypomagnesemia with normocalcuria' http://purl.obolibrary.org/obo/MONDO_0016049 congenital myopathy, Paradas type 'congenital myopathy, Paradas type' SubClassOf 'qualitative or quantitative defects of dysferlin' 'congenital myopathy, Paradas type' SubClassOf 'congenital muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0016045 tetragametic chimerism 'tetragametic chimerism' SubClassOf 'sex chromosome disorder of sex development' http://purl.obolibrary.org/obo/MONDO_0016046 familial clubfoot with or without associated lower limb anomalies 'familial clubfoot with or without associated lower limb anomalies' SubClassOf 'congenital limb malformation' 'familial clubfoot with or without associated lower limb anomalies' SubClassOf 'dysostosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0016040 harlequin syndrome 'harlequin syndrome' SubClassOf 'autonomic nervous system disease' 'harlequin syndrome' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016060 laryngotracheoesophageal cleft 'laryngotracheoesophageal cleft' SubClassOf 'respiratory malformation' 'laryngotracheoesophageal cleft' SubClassOf 'non-syndromic esophageal malformation' 'laryngotracheoesophageal cleft' SubClassOf 'non-syndromic respiratory or mediastinal malformation' 'laryngotracheoesophageal cleft' SubClassOf 'larynx anomaly' http://purl.obolibrary.org/obo/MONDO_0016061 immunodeficiency with factor H anomaly 'immunodeficiency with factor H anomaly' SubClassOf 'complement factor H deficiency' http://purl.obolibrary.org/obo/MONDO_0016059 cleft lip/palate-deafness-sacral lipoma syndrome 'cleft lip/palate-deafness-sacral lipoma syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'cleft lip/palate-deafness-sacral lipoma syndrome' SubClassOf 'syndromic genetic hearing loss' 'cleft lip/palate-deafness-sacral lipoma syndrome' SubClassOf 'orofacial clefting syndrome' http://purl.obolibrary.org/obo/MONDO_0016056 isolated congenital microcephaly 'isolated congenital microcephaly' SubClassOf 'cerebral malformation' 'isolated congenital microcephaly' SubClassOf 'microcephaly' 'isolated congenital microcephaly' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0016057 isolated encephalocele 'isolated encephalocele' SubClassOf 'cephalocele' http://purl.obolibrary.org/obo/MONDO_0016058 paroxysmal dystonia 'paroxysmal dystonia' SubClassOf 'combined dystonia' http://purl.obolibrary.org/obo/MONDO_0016051 cleft lip-retinopathy syndrome 'cleft lip-retinopathy syndrome' SubClassOf 'syndromic retinitis pigmentosa' 'cleft lip-retinopathy syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'cleft lip-retinopathy syndrome' SubClassOf 'congenital nervous system disorder' 'cleft lip-retinopathy syndrome' SubClassOf 'orofacial clefting syndrome' 'cleft lip-retinopathy syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://purl.obolibrary.org/obo/MONDO_0016052 atypical autism 'atypical autism' SubClassOf 'pervasive developmental disorder' 'atypical autism' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016070 hereditary gingival fibromatosis 'hereditary gingival fibromatosis' SubClassOf 'genetic disorder' 'hereditary gingival fibromatosis' SubClassOf 'gingival overgrowth' 'hereditary gingival fibromatosis' SubClassOf 'has modifier' some 'rare' 'hereditary gingival fibromatosis' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0016071 juvenile hyaline fibromatosis 'juvenile hyaline fibromatosis' SubClassOf 'hereditary disorder of connective tissue' 'juvenile hyaline fibromatosis' SubClassOf 'hyaline fibromatosis syndrome' 'juvenile hyaline fibromatosis' SubClassOf 'dermis tumor' 'juvenile hyaline fibromatosis' SubClassOf 'Soft Tissue Neoplasm' 'juvenile hyaline fibromatosis' SubClassOf 'inherited soft tissue tumor' 'juvenile hyaline fibromatosis' SubClassOf 'inherited skin tumor' 'juvenile hyaline fibromatosis' SubClassOf 'bone neoplasm' http://purl.obolibrary.org/obo/MONDO_0016072 anomaly of puberty or/and menstrual cycle of genetic origin 'anomaly of puberty or/and menstrual cycle of genetic origin' SubClassOf 'genetic disorder' 'anomaly of puberty or/and menstrual cycle of genetic origin' SubClassOf 'anomaly of puberty or/and menstrual cycle' 'anomaly of puberty or/and menstrual cycle of genetic origin' EquivalentTo 'anomaly of puberty or/and menstrual cycle' and ('has modifier' some 'inherited') 'anomaly of puberty or/and menstrual cycle of genetic origin' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016067 Crandall syndrome 'Crandall syndrome' SubClassOf 'syndromic hair shaft abnormality' http://purl.obolibrary.org/obo/MONDO_0016068 fibrochondrogenesis 'fibrochondrogenesis' SubClassOf 'genetic disorder' 'fibrochondrogenesis' SubClassOf 'osteochondrodysplasia' 'fibrochondrogenesis' SubClassOf 'mesomelic and rhizo-mesomelic dysplasia' http://purl.obolibrary.org/obo/MONDO_0016063 Cowden disease 'Cowden disease' SubClassOf 'autosomal dominant disease' 'Cowden disease' SubClassOf 'intestinal polyposis syndrome' 'Cowden disease' SubClassOf 'disease has feature' some 'inherited digestive tract tumor' 'Cowden disease' SubClassOf 'PTEN hamartoma tumor syndrome' 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 'orofacial clefting syndrome' 'cleft palate-short stature-vertebral anomalies syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'cleft palate-short stature-vertebral anomalies syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0016083 FLOTCH syndrome 'FLOTCH syndrome' SubClassOf 'syndromic nail anomaly' http://purl.obolibrary.org/obo/MONDO_0016073 syndromic microphthalmia 'syndromic microphthalmia' SubClassOf 'microphthalmia' 'syndromic microphthalmia' SubClassOf 'anophthalmia-microphthalmia syndrome' 'syndromic microphthalmia' EquivalentTo 'microphthalmia' and ('has modifier' some 'has a syndromic presentation') 'syndromic microphthalmia' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0016091 adult Krabbe disease 'adult Krabbe disease' SubClassOf 'cerebral lipidosis with dementia' 'adult Krabbe disease' SubClassOf 'Krabbe disease' http://purl.obolibrary.org/obo/MONDO_0016090 late-infantile/juvenile Krabbe disease 'late-infantile/juvenile Krabbe disease' SubClassOf 'Krabbe disease' http://purl.obolibrary.org/obo/MONDO_0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency 'hypoxanthine-guanine phosphoribosyltransferase deficiency' SubClassOf 'neurometabolic disease' 'hypoxanthine-guanine phosphoribosyltransferase deficiency' SubClassOf 'inborn disorder of purine metabolism' 'hypoxanthine-guanine phosphoribosyltransferase deficiency' SubClassOf 'nephropathy secondary to a storage or other metabolic disease' 'hypoxanthine-guanine phosphoribosyltransferase deficiency' SubClassOf 'vitamin B12- and folate-independent constitutional megaloblastic anemia' http://purl.obolibrary.org/obo/MONDO_0016089 infantile Krabbe disease 'infantile Krabbe disease' SubClassOf 'Krabbe disease' http://purl.obolibrary.org/obo/MONDO_0016085 Cole-Carpenter syndrome 'Cole-Carpenter syndrome' SubClassOf 'primary bone dysplasia' 'Cole-Carpenter syndrome' SubClassOf 'syndromic disease' 'Cole-Carpenter syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Cole-Carpenter syndrome' SubClassOf 'osteogenesis imperfecta' http://purl.obolibrary.org/obo/MONDO_0016087 progressive non-infectious anterior vertebral fusion 'progressive non-infectious anterior vertebral fusion' SubClassOf 'dysostosis of genetic origin' 'progressive non-infectious anterior vertebral fusion' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0016097 symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers 'symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers' SubClassOf 'dilated cardiomyopathy 3B' 'symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers' SubClassOf 'Duchenne and Becker muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0018542 severe congenital neutropenia 'severe congenital neutropenia' SubClassOf 'constitutional neutropenia' http://purl.obolibrary.org/obo/MONDO_0018541 familial hypoaldosteronism 'familial hypoaldosteronism' SubClassOf 'hypoaldosteronism disease' 'familial hypoaldosteronism' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018544 adrenoleukodystrophy 'adrenoleukodystrophy' SubClassOf 'adrenal gland disease' 'adrenoleukodystrophy' SubClassOf 'disorder of peroxisomal transporter' 'adrenoleukodystrophy' SubClassOf 'neurometabolic disease' 'adrenoleukodystrophy' SubClassOf 'genetic dementia' 'adrenoleukodystrophy' SubClassOf 'leukodystrophy' 'adrenoleukodystrophy' SubClassOf 'X-linked disease' http://purl.obolibrary.org/obo/MONDO_0018543 autosomal dominant hypocalcemia 'autosomal dominant hypocalcemia' SubClassOf 'autosomal dominant disease' 'autosomal dominant hypocalcemia' SubClassOf 'calcium metabolic disease' 'autosomal dominant hypocalcemia' SubClassOf 'familial hypoparathyroidism' http://purl.obolibrary.org/obo/MONDO_0018540 PFAPA syndrome 'PFAPA syndrome' SubClassOf 'autoinflammatory syndrome' http://purl.obolibrary.org/obo/MONDO_0006588 obsolete nonepidermolytic palmoplantar keratoderma 'obsolete nonepidermolytic palmoplantar keratoderma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0018570 hypophosphatasia 'hypophosphatasia' SubClassOf 'autosomal dominant disease' 'hypophosphatasia' SubClassOf 'developmental anomaly of metabolic origin' 'hypophosphatasia' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0018591 ITM2B amyloidosis 'ITM2B amyloidosis' SubClassOf 'disease has major feature' some 'dementia' 'ITM2B amyloidosis' SubClassOf 'inherited neurodegenerative disorder' 'ITM2B amyloidosis' SubClassOf 'hereditary amyloidosis' http://purl.obolibrary.org/obo/MONDO_0018598 obsolete neonatal adrenoleukodystrophy 'obsolete neonatal adrenoleukodystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0018418 autosomal recessive spastic paraplegia type 66 'autosomal recessive spastic paraplegia type 66' SubClassOf 'autosomal recessive complex spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0018417 autosomal recessive spastic paraplegia type 60 'autosomal recessive spastic paraplegia type 60' SubClassOf 'autosomal recessive complex spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0018419 autosomal recessive spastic paraplegia type 67 'autosomal recessive spastic paraplegia type 67' SubClassOf 'autosomal recessive complex spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0018416 autosomal recessive spastic paraplegia type 59 'autosomal recessive spastic paraplegia type 59' SubClassOf 'autosomal recessive complex spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0018429 14q24.1q24.3 microdeletion syndrome '14q24.1q24.3 microdeletion syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' '14q24.1q24.3 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 14' '14q24.1q24.3 microdeletion syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0018428 9q31.1q31.3 microdeletion syndrome '9q31.1q31.3 microdeletion syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' '9q31.1q31.3 microdeletion syndrome' SubClassOf 'partial monosomy of the long arm of chromosome 9' '9q31.1q31.3 microdeletion syndrome' SubClassOf 'genetic nervous system disorder' '9q31.1q31.3 microdeletion syndrome' SubClassOf 'congenital nervous system disorder' '9q31.1q31.3 microdeletion syndrome' SubClassOf 'syndromic intellectual disability' '9q31.1q31.3 microdeletion syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0018425 Huntington disease-like syndrome due to C9ORF72 expansions 'Huntington disease-like syndrome due to C9ORF72 expansions' SubClassOf 'Huntington disease-like syndrome' 'Huntington disease-like syndrome due to C9ORF72 expansions' SubClassOf 'movement disorder' 'Huntington disease-like syndrome due to C9ORF72 expansions' SubClassOf 'disease has major feature' some 'dementia' http://purl.obolibrary.org/obo/MONDO_0018424 inherited lipoic acid biosynthesis defect 'inherited lipoic acid biosynthesis defect' SubClassOf 'sulfur metabolism disease' 'inherited lipoic acid biosynthesis defect' SubClassOf 'inborn mitochondrial metabolism disorder' 'inherited lipoic acid biosynthesis defect' SubClassOf 'inherited fatty acid metabolism disorder' http://purl.obolibrary.org/obo/MONDO_0018426 AXIN2-related attenuated familial adenomatous polyposis 'AXIN2-related attenuated familial adenomatous polyposis' SubClassOf 'attenuated familial adenomatous polyposis' http://purl.obolibrary.org/obo/MONDO_0018421 autosomal recessive spastic paraplegia type 69 'autosomal recessive spastic paraplegia type 69' SubClassOf 'autosomal recessive complex spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0018420 autosomal recessive spastic paraplegia type 68 'autosomal recessive spastic paraplegia type 68' SubClassOf 'autosomal recessive complex spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0018423 autosomal recessive spastic paraplegia type 71 'autosomal recessive spastic paraplegia type 71' SubClassOf 'autosomal recessive pure spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0018422 autosomal recessive spastic paraplegia type 70 'autosomal recessive spastic paraplegia type 70' SubClassOf 'autosomal recessive complex spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0018431 cold-induced sweating syndrome - hyperthermia spectrum 'cold-induced sweating syndrome - hyperthermia spectrum' SubClassOf 'hereditary sensory and autonomic neuropathy' http://purl.obolibrary.org/obo/MONDO_0018430 partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome 'partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome' SubClassOf 'cerebral malformation' 'partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0018446 autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome 'autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome' SubClassOf 'monogenic epilepsy' 'autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome' SubClassOf 'autosomal recessive cerebellar ataxia' 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 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '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_0031421 Olmsted syndrome 'Olmsted syndrome' SubClassOf 'autosomal dominant diffuse mutilating palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0018445 global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome 'global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome' SubClassOf 'inherited renal cancer-predisposing syndrome' 'global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome' SubClassOf 'overgrowth syndrome' http://purl.obolibrary.org/obo/MONDO_0018440 autosomal recessive distal renal tubular acidosis 'autosomal recessive distal renal tubular acidosis' SubClassOf 'autosomal recessive disease' 'autosomal recessive distal renal tubular acidosis' SubClassOf 'syndromic genetic hearing loss' 'autosomal recessive distal renal tubular acidosis' SubClassOf 'distal renal tubular acidosis' http://purl.obolibrary.org/obo/MONDO_0018458 familial hypocalciuric hypercalcemia 'familial hypocalciuric hypercalcemia' SubClassOf 'endocrine system disease' 'familial hypocalciuric hypercalcemia' SubClassOf 'inborn errors of metabolism' 'familial hypocalciuric hypercalcemia' SubClassOf 'hypercalcemia disease' 'familial hypocalciuric hypercalcemia' SubClassOf 'interstitial lung disease specific to childhood' http://purl.obolibrary.org/obo/MONDO_0018459 isolated glycerol kinase deficiency 'isolated glycerol kinase deficiency' SubClassOf 'inborn glycerol kinase deficiency' 'isolated glycerol kinase deficiency' EquivalentTo 'inborn glycerol kinase deficiency' and ('has modifier' some 'has an isolated presentation') 'isolated glycerol kinase deficiency' SubClassOf 'has modifier' some 'has an isolated presentation' http://purl.obolibrary.org/obo/MONDO_0018454 dysostosis of genetic origin 'dysostosis of genetic origin' SubClassOf 'genetic disorder' 'dysostosis of genetic origin' EquivalentTo 'dysostosis' and ('has modifier' some 'inherited') 'dysostosis of genetic origin' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0018453 familial atypical multiple mole melanoma syndrome 'familial atypical multiple mole melanoma syndrome' SubClassOf 'inherited skin tumor' 'familial atypical multiple mole melanoma syndrome' SubClassOf 'hereditary neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0018450 spinal muscular atrophy with respiratory distress type 2 'spinal muscular atrophy with respiratory distress type 2' SubClassOf 'X-linked distal hereditary motor neuropathy' http://purl.obolibrary.org/obo/MONDO_0018451 X-linked distal hereditary motor neuropathy 'X-linked distal hereditary motor neuropathy' SubClassOf 'X-linked disease' 'X-linked distal hereditary motor neuropathy' SubClassOf 'distal hereditary motor neuropathy' http://purl.obolibrary.org/obo/MONDO_0031446 hypercholanemia, familial 1 'hypercholanemia, familial 1' SubClassOf 'hypercholanemia, familial' http://purl.obolibrary.org/obo/MONDO_0018479 congenital adrenal hyperplasia 'congenital adrenal hyperplasia' SubClassOf 'adrenogenital syndrome' 'congenital adrenal hyperplasia' SubClassOf 'steroid inherited metabolic disorder' 'congenital adrenal hyperplasia' SubClassOf 'chronic primary adrenal insufficiency' 'congenital adrenal hyperplasia' SubClassOf 'genetic endocrine growth disease' http://purl.obolibrary.org/obo/MONDO_0018473 hyperlipoproteinemia type 3 'hyperlipoproteinemia type 3' SubClassOf 'familial hyperlipidemia' http://purl.obolibrary.org/obo/MONDO_0018485 glycogen storage disease due to acid maltase deficiency, late-onset 'glycogen storage disease due to acid maltase deficiency, late-onset' SubClassOf 'glycogen storage disease II' http://purl.obolibrary.org/obo/MONDO_0018493 malignant hyperthermia of anesthesia 'malignant hyperthermia of anesthesia' SubClassOf 'muscular channelopathy' 'malignant hyperthermia of anesthesia' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0031481 microcephaly, epilepsy, and diabetes syndrome 1 'microcephaly, epilepsy, and diabetes syndrome 1' SubClassOf 'has modifier' some 'rare' 'microcephaly, epilepsy, and diabetes syndrome 1' SubClassOf 'microcephaly, epilepsy, and diabetes syndrome' http://purl.obolibrary.org/obo/MONDO_0008901 Tel Hashomer camptodactyly syndrome 'Tel Hashomer camptodactyly syndrome' SubClassOf 'skeletal muscle disorder' http://purl.obolibrary.org/obo/MONDO_0008908 MGAT2-CDG 'MGAT2-CDG' SubClassOf 'congenital disorder of glycosylation type II' 'MGAT2-CDG' SubClassOf 'neurometabolic disease' 'MGAT2-CDG' SubClassOf 'disorder of protein N-glycosylation' 'MGAT2-CDG' SubClassOf 'congenital nervous system disorder' 'MGAT2-CDG' SubClassOf 'developmental anomaly of metabolic origin' 'MGAT2-CDG' SubClassOf 'heart disease' http://purl.obolibrary.org/obo/MONDO_0008907 PMM2-CDG 'PMM2-CDG' SubClassOf 'congenital disorder of glycosylation type I' 'PMM2-CDG' SubClassOf 'congenital nervous system disorder' 'PMM2-CDG' SubClassOf 'neurometabolic disease' 'PMM2-CDG' SubClassOf 'genetic skin disease' 'PMM2-CDG' SubClassOf 'disorder of protein N-glycosylation' http://purl.obolibrary.org/obo/MONDO_0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome 'dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome' SubClassOf 'heart disease' 'dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome' SubClassOf 'has modifier' some 'rare' 'dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome' SubClassOf 'male reproductive system disease' 'dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome' SubClassOf 'endocrine system disease' 'dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008919 systemic primary carnitine deficiency disease 'systemic primary carnitine deficiency disease' SubClassOf 'inherited amino acid metabolic disorder' 'systemic primary carnitine deficiency disease' SubClassOf 'disorder of carnitine cycle and carnitine transport' 'systemic primary carnitine deficiency disease' SubClassOf 'muscular lipidosis' 'systemic primary carnitine deficiency disease' SubClassOf 'disorder of fatty acid oxidation and ketogenesis' http://purl.obolibrary.org/obo/MONDO_0008918 carnitine-acylcarnitine translocase deficiency 'carnitine-acylcarnitine translocase deficiency' SubClassOf 'disorder of carnitine cycle and carnitine transport' 'carnitine-acylcarnitine translocase deficiency' SubClassOf 'disorder of fatty acid oxidation and ketogenesis' 'carnitine-acylcarnitine translocase deficiency' SubClassOf 'familial hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0008917 heart defects-limb shortening syndrome 'heart defects-limb shortening syndrome' SubClassOf 'congenital heart disease' 'heart defects-limb shortening syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'heart defects-limb shortening syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0008926 COFS syndrome 'COFS syndrome' SubClassOf 'syndromic microphthalmia' 'COFS syndrome' SubClassOf 'autosomal recessive disease' 'COFS syndrome' SubClassOf 'developmental anomaly of metabolic origin' 'COFS syndrome' SubClassOf 'DNA repair deficiency' http://purl.obolibrary.org/obo/MONDO_0008925 cataract 46 juvenile-onset 'cataract 46 juvenile-onset' SubClassOf 'early-onset non-syndromic cataract' http://purl.obolibrary.org/obo/MONDO_0008924 congenital cataract-ichthyosis syndrome 'congenital cataract-ichthyosis syndrome' SubClassOf 'autosomal ichthyosis syndrome' 'congenital cataract-ichthyosis syndrome' SubClassOf 'syndromic cataract' http://purl.obolibrary.org/obo/MONDO_0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia 'autosomal recessive palmoplantar keratoderma and congenital alopecia' SubClassOf 'autosomal recessive disease' 'autosomal recessive palmoplantar keratoderma and congenital alopecia' SubClassOf 'ectodermal dysplasia syndrome' 'autosomal recessive palmoplantar keratoderma and congenital alopecia' SubClassOf 'diffuse palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0008922 Sengers syndrome 'Sengers syndrome' SubClassOf 'heart disease' 'Sengers syndrome' SubClassOf 'mitochondrial DNA depletion syndrome' 'Sengers syndrome' SubClassOf 'disorder of phospholipids, sphingolipids and fatty acids biosynthesis' 'Sengers syndrome' SubClassOf 'mitochondrial substrate carrier disorder' http://purl.obolibrary.org/obo/MONDO_0008921 carnosinemia 'carnosinemia' SubClassOf 'homocarnosinosis' http://purl.obolibrary.org/obo/MONDO_0008928 cataract-ataxia-deafness syndrome 'cataract-ataxia-deafness syndrome' SubClassOf 'syndromic genetic hearing loss' 'cataract-ataxia-deafness syndrome' SubClassOf 'hereditary ataxia' http://purl.obolibrary.org/obo/MONDO_0008938 early-onset cerebellar ataxia with retained tendon reflexes 'early-onset cerebellar ataxia with retained tendon reflexes' SubClassOf 'autosomal recessive degenerative and progressive cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0008935 cerebellar ataxia-hypogonadism syndrome 'cerebellar ataxia-hypogonadism syndrome' SubClassOf 'inherited neurodegenerative disorder' 'cerebellar ataxia-hypogonadism syndrome' SubClassOf 'congenital hypogonadotropic hypogonadism' http://purl.obolibrary.org/obo/MONDO_0008934 cerebellar ataxia-ectodermal dysplasia syndrome 'cerebellar ataxia-ectodermal dysplasia syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0008931 Cenani-Lenz syndactyly syndrome 'Cenani-Lenz syndactyly syndrome' SubClassOf 'genetic disorder' 'Cenani-Lenz syndactyly syndrome' SubClassOf 'congenital limb malformation' http://purl.obolibrary.org/obo/MONDO_0008948 cerebrotendinous xanthomatosis 'cerebrotendinous xanthomatosis' SubClassOf 'eye degenerative disorder' 'cerebrotendinous xanthomatosis' SubClassOf 'syndromic dyslipidemia' 'cerebrotendinous xanthomatosis' SubClassOf 'autosomal recessive metabolic cerebellar ataxia' 'cerebrotendinous xanthomatosis' SubClassOf 'cerebral lipidosis with dementia' 'cerebrotendinous xanthomatosis' SubClassOf 'neurometabolic disease' 'cerebrotendinous xanthomatosis' SubClassOf 'leukodystrophy' 'cerebrotendinous xanthomatosis' SubClassOf 'xanthomatosis' 'cerebrotendinous xanthomatosis' SubClassOf 'cerebellar degeneration' 'cerebrotendinous xanthomatosis' SubClassOf 'cerebral organic aciduria' 'cerebrotendinous xanthomatosis' SubClassOf 'subcutaneous tissue disorder' 'cerebrotendinous xanthomatosis' SubClassOf 'inborn disorder of bile acid synthesis' 'cerebrotendinous xanthomatosis' SubClassOf 'cholesterol catabolic process disease' 'cerebrotendinous xanthomatosis' SubClassOf 'genetic peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0008947 bilateral striopallidodentate calcinosis 'bilateral striopallidodentate calcinosis' SubClassOf 'genetic dementia' 'bilateral striopallidodentate calcinosis' SubClassOf 'basal ganglia disease' http://purl.obolibrary.org/obo/MONDO_0008943 autosomal recessive spinocerebellar ataxia 2 'autosomal recessive spinocerebellar ataxia 2' SubClassOf 'autosomal recessive congenital cerebellar ataxia' 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 'genetic parenchymatous liver disease' 'hepatic fibrosis-renal cysts-intellectual disability syndrome' SubClassOf 'genetic nervous system disorder' 'hepatic fibrosis-renal cysts-intellectual disability syndrome' SubClassOf 'familial cystic renal disease' http://purl.obolibrary.org/obo/MONDO_0008940 endosteal sclerosis-cerebellar hypoplasia syndrome 'endosteal sclerosis-cerebellar hypoplasia syndrome' SubClassOf 'central nervous system malformation' 'endosteal sclerosis-cerebellar hypoplasia syndrome' SubClassOf 'genetic nervous system disorder' 'endosteal sclerosis-cerebellar hypoplasia syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0008952 cerebrofaciothoracic dysplasia 'cerebrofaciothoracic dysplasia' SubClassOf 'dysostosis of genetic origin' 'cerebrofaciothoracic dysplasia' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'cerebrofaciothoracic dysplasia' SubClassOf 'genetic nervous system disorder' 'cerebrofaciothoracic dysplasia' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'cerebrofaciothoracic dysplasia' SubClassOf 'syndromic intellectual disability' 'cerebrofaciothoracic dysplasia' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0008967 congenital bile acid synthesis defect 4 'congenital bile acid synthesis defect 4' SubClassOf 'Congenital bile acid synthesis defect' 'congenital bile acid synthesis defect 4' SubClassOf 'Alpha-methylacyl-CoA racemase deficiency' 'congenital bile acid synthesis defect 4' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0008966 Aagenaes syndrome 'Aagenaes syndrome' SubClassOf 'primary lymphedema' 'Aagenaes syndrome' SubClassOf 'has modifier' some 'rare' 'Aagenaes syndrome' SubClassOf 'liver disease' 'Aagenaes syndrome' SubClassOf 'syndromic lymphedema' http://purl.obolibrary.org/obo/MONDO_0008965 CHARGE syndrome 'CHARGE syndrome' SubClassOf 'neurocristopathy' 'CHARGE syndrome' SubClassOf 'syndromic genetic hearing loss' 'CHARGE syndrome' SubClassOf 'congenital hypogonadotropic hypogonadism' 'CHARGE syndrome' SubClassOf 'syndromic urogenital tract malformation' 'CHARGE syndrome' SubClassOf 'heart disease' 'CHARGE syndrome' SubClassOf 'lens shape anomaly' 'CHARGE syndrome' SubClassOf 'primary immunodeficiency due to a defect in adaptive immunity' 'CHARGE syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'CHARGE syndrome' SubClassOf 'syndromic renal or urinary tract malformation' http://purl.obolibrary.org/obo/MONDO_0008964 congenital secretory chloride diarrhea 1 'congenital secretory chloride diarrhea 1' SubClassOf 'congenital intestinal transport defect' 'congenital secretory chloride diarrhea 1' SubClassOf 'congenital secretory diarrhea' http://purl.obolibrary.org/obo/MONDO_0008963 Chediak-Higashi syndrome 'Chediak-Higashi syndrome' SubClassOf 'syndromic oculocutaneous albinism' 'Chediak-Higashi syndrome' SubClassOf 'inherited neurodegenerative disorder' 'Chediak-Higashi syndrome' SubClassOf 'disorder of lysosomal-related organelles' 'Chediak-Higashi syndrome' SubClassOf 'congenital nervous system disorder' 'Chediak-Higashi syndrome' SubClassOf 'eye degenerative disorder' 'Chediak-Higashi syndrome' SubClassOf 'dense granule disease' 'Chediak-Higashi syndrome' SubClassOf 'genetic hemophagocytic lymphohistiocytosis' 'Chediak-Higashi syndrome' SubClassOf 'genetic peripheral neuropathy' 'Chediak-Higashi syndrome' SubClassOf 'constitutional neutropenia' http://purl.obolibrary.org/obo/MONDO_0008962 Griscelli syndrome type 1 'Griscelli syndrome type 1' SubClassOf 'Griscelli syndrome' 'Griscelli syndrome type 1' SubClassOf 'cerebral organic aciduria' 'Griscelli syndrome type 1' SubClassOf 'brain inflammatory disease' http://purl.obolibrary.org/obo/MONDO_0008961 Charcot-Marie-Tooth disease type 4A 'Charcot-Marie-Tooth disease type 4A' SubClassOf 'Charcot-Marie-Tooth disease type 4' 'Charcot-Marie-Tooth disease type 4A' SubClassOf 'Charcot-Marie-Tooth disease recessive intermediate A' 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 genetic hearing loss' 'Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome' SubClassOf 'autosomal recessive hereditary demyelinating motor and sensory neuropathy' http://purl.obolibrary.org/obo/MONDO_0008979 chorea, benign familial 'chorea, benign familial' SubClassOf 'chorea' http://purl.obolibrary.org/obo/MONDO_0008978 chordoma 'chordoma' SubClassOf 'notochordal tumor' http://purl.obolibrary.org/obo/MONDO_0008975 otospondylomegaepiphyseal dysplasia 'otospondylomegaepiphyseal dysplasia' SubClassOf 'spondyloepiphyseal dysplasia' 'otospondylomegaepiphyseal dysplasia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008974 Greenberg dysplasia 'Greenberg dysplasia' SubClassOf 'laminopathy' 'Greenberg dysplasia' SubClassOf 'sterol biosynthesis disorder' 'Greenberg dysplasia' SubClassOf 'chondrodysplasia punctata' http://purl.obolibrary.org/obo/MONDO_0008973 chondrodysplasia punctata, Toriello type 'chondrodysplasia punctata, Toriello type' SubClassOf 'non-rhizomelic chondrodysplasia punctata' http://purl.obolibrary.org/obo/MONDO_0008972 rhizomelic chondrodysplasia punctata type 1 'rhizomelic chondrodysplasia punctata type 1' SubClassOf 'syndromic dyslipidemia' 'rhizomelic chondrodysplasia punctata type 1' SubClassOf 'rhizomelic chondrodysplasia punctata' 'rhizomelic chondrodysplasia punctata type 1' SubClassOf 'eye degenerative disorder' 'rhizomelic chondrodysplasia punctata type 1' SubClassOf 'peroxisome biogenesis disorder due to PEX7 defect' http://purl.obolibrary.org/obo/MONDO_0008970 chondrodysplasia Blomstrand type 'chondrodysplasia Blomstrand type' SubClassOf 'genetic disorder' 'chondrodysplasia Blomstrand type' SubClassOf 'neonatal osteosclerotic dysplasia' http://purl.obolibrary.org/obo/MONDO_0008988 citrullinemia type I 'citrullinemia type I' SubClassOf 'citrullinemia' http://purl.obolibrary.org/obo/MONDO_0008982 central areolar choroidal dystrophy 'central areolar choroidal dystrophy' SubClassOf 'optic choroid disorder' 'central areolar choroidal dystrophy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008980 ataxia-hypogonadism-choroidal dystrophy syndrome 'ataxia-hypogonadism-choroidal dystrophy syndrome' SubClassOf 'congenital hypogonadotropic hypogonadism' 'ataxia-hypogonadism-choroidal dystrophy syndrome' SubClassOf 'hereditary ataxia' http://purl.obolibrary.org/obo/MONDO_0018307 neurodegeneration with brain iron accumulation 'neurodegeneration with brain iron accumulation' SubClassOf 'movement disorder' 'neurodegeneration with brain iron accumulation' SubClassOf 'disease arises from feature' some 'neurodegenerative disease' 'neurodegeneration with brain iron accumulation' SubClassOf 'iron metabolism disease' 'neurodegeneration with brain iron accumulation' SubClassOf 'neuroaxonal dystrophy' 'neurodegeneration with brain iron accumulation' SubClassOf 'genetic dementia' 'neurodegeneration with brain iron accumulation' SubClassOf 'neurometabolic disease' 'neurodegeneration with brain iron accumulation' SubClassOf 'disease has major feature' some 'dementia' 'neurodegeneration with brain iron accumulation' SubClassOf 'inborn errors of metabolism' 'neurodegeneration with brain iron accumulation' SubClassOf 'inherited neurodegenerative disorder' http://purl.obolibrary.org/obo/MONDO_0018309 Hirschsprung disease 'Hirschsprung disease' SubClassOf 'genetic disorder' 'Hirschsprung disease' SubClassOf 'neurocristopathy' 'Hirschsprung disease' SubClassOf 'has modifier' some 'rare' 'Hirschsprung disease' SubClassOf 'intestinal motility disease' http://purl.obolibrary.org/obo/MONDO_0018303 generalized isolated dystonia 'generalized isolated dystonia' SubClassOf 'isolated dystonia' 'generalized isolated dystonia' SubClassOf 'generalized dystonia' 'generalized isolated dystonia' EquivalentTo 'generalized dystonia' and 'isolated dystonia' http://purl.obolibrary.org/obo/MONDO_0018306 Griscelli syndrome 'Griscelli syndrome' SubClassOf 'syndromic oculocutaneous albinism' http://purl.obolibrary.org/obo/MONDO_0018305 chronic granulomatous disease 'chronic granulomatous disease' SubClassOf 'phagocyte bactericidal dysfunction' 'chronic granulomatous disease' SubClassOf 'defective phagocytic cell engulfment' 'chronic granulomatous disease' SubClassOf 'inflammatory disease' http://purl.obolibrary.org/obo/MONDO_0008999 Cohen syndrome 'Cohen syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Cohen syndrome' SubClassOf 'syndromic myopia' 'Cohen syndrome' SubClassOf 'constitutional neutropenia' 'Cohen syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Cohen syndrome' SubClassOf 'syndromic retinitis pigmentosa' 'Cohen syndrome' SubClassOf 'congenital nervous system disorder' 'Cohen syndrome' SubClassOf 'syndromic genetic obesity' 'Cohen syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008998 Cockayne syndrome type 3 'Cockayne syndrome type 3' SubClassOf 'Cockayne syndrome' http://purl.obolibrary.org/obo/MONDO_0008996 COACH syndrome 1 'COACH syndrome 1' SubClassOf 'COACH syndrome' 'COACH syndrome 1' SubClassOf 'disorder of development or morphogenesis' 'COACH syndrome 1' SubClassOf 'Joubert syndrome and related disorders' 'COACH syndrome 1' SubClassOf 'genetic parenchymatous liver disease' http://purl.obolibrary.org/obo/MONDO_0008995 Yunis-Varon syndrome 'Yunis-Varon syndrome' SubClassOf 'primary bone dysplasia' 'Yunis-Varon syndrome' SubClassOf 'syndromic disease' 'Yunis-Varon syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008993 cleft palate-stapes fixation-oligodontia syndrome 'cleft palate-stapes fixation-oligodontia syndrome' SubClassOf 'disorder of development or morphogenesis' 'cleft palate-stapes fixation-oligodontia syndrome' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0008992 Juberg-Hayward syndrome 'Juberg-Hayward syndrome' SubClassOf 'orofacial clefting syndrome' 'Juberg-Hayward syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'Juberg-Hayward syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008991 Verloove Vanhorick-Brubakk syndrome 'Verloove Vanhorick-Brubakk syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'Verloove Vanhorick-Brubakk syndrome' SubClassOf 'orofacial clefting syndrome' 'Verloove Vanhorick-Brubakk syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008990 cleft larynx, posterior 'cleft larynx, posterior' SubClassOf 'laryngotracheoesophageal cleft' http://purl.obolibrary.org/obo/MONDO_0018319 familial episodic pain syndrome 'familial episodic pain syndrome' SubClassOf 'genetic peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0018318 disorder of asparagine metabolism 'disorder of asparagine metabolism' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' http://purl.obolibrary.org/obo/MONDO_0018315 X-linked osteoporosis with fractures 'X-linked osteoporosis with fractures' SubClassOf 'osteoporosis' http://purl.obolibrary.org/obo/MONDO_0018314 infantile-onset mesial temporal lobe epilepsy with severe cognitive regression 'infantile-onset mesial temporal lobe epilepsy with severe cognitive regression' SubClassOf 'monogenic epilepsy' 'infantile-onset mesial temporal lobe epilepsy with severe cognitive regression' SubClassOf 'infantile epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0018317 growth retardation-mild developmental delay-chronic hepatitis syndrome 'growth retardation-mild developmental delay-chronic hepatitis syndrome' SubClassOf 'genetic parenchymatous liver disease' http://purl.obolibrary.org/obo/MONDO_0018316 fatal post-viral neurodegenerative disorder 'fatal post-viral neurodegenerative disorder' SubClassOf 'inherited neurodegenerative disorder' 'fatal post-viral neurodegenerative disorder' SubClassOf 'brain inflammatory disease' http://purl.obolibrary.org/obo/MONDO_0018329 persistent combined dystonia 'persistent combined dystonia' SubClassOf 'combined dystonia' http://purl.obolibrary.org/obo/MONDO_0018328 homozygous familial hypercholesterolemia 'homozygous familial hypercholesterolemia' SubClassOf 'has modifier' some 'rare' 'homozygous familial hypercholesterolemia' SubClassOf 'familial hypercholesterolemia' http://purl.obolibrary.org/obo/MONDO_0018322 HSD10 disease, infantile type 'HSD10 disease, infantile type' SubClassOf 'HSD10 mitochondrial disease' http://purl.obolibrary.org/obo/MONDO_0018321 atypical juvenile parkinsonism 'atypical juvenile parkinsonism' SubClassOf 'parkinsonian disorder' http://purl.obolibrary.org/obo/MONDO_0018323 HSD10 disease, neonatal type 'HSD10 disease, neonatal type' SubClassOf 'HSD10 mitochondrial 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 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018337 severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency 'severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency' SubClassOf 'mitochondrial disease' http://purl.obolibrary.org/obo/MONDO_0018339 PrP systemic amyloidosis 'PrP systemic amyloidosis' SubClassOf 'inherited prion disease' 'PrP systemic amyloidosis' SubClassOf 'autosomal dominant hereditary sensory and autonomic neuropathy' http://purl.obolibrary.org/obo/MONDO_0018338 activated PI3K-delta syndrome 'activated PI3K-delta syndrome' SubClassOf 'agammaglobulinemia' http://purl.obolibrary.org/obo/MONDO_0018333 multiple acyl-CoA dehydrogenase deficiency, mild type 'multiple acyl-CoA dehydrogenase deficiency, mild type' SubClassOf 'multiple acyl-CoA dehydrogenase deficiency' http://purl.obolibrary.org/obo/MONDO_0018332 multiple acyl-CoA dehydrogenase deficiency, severe neonatal type 'multiple acyl-CoA dehydrogenase deficiency, severe neonatal type' SubClassOf 'multiple acyl-CoA dehydrogenase deficiency' http://purl.obolibrary.org/obo/MONDO_0018347 severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome 'severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0018349 MAN1B1-CDG 'MAN1B1-CDG' SubClassOf 'disorder of protein N-glycosylation' 'MAN1B1-CDG' SubClassOf 'congenital nervous system disorder' 'MAN1B1-CDG' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0018344 periodic paralysis with transient compartment-like syndrome 'periodic paralysis with transient compartment-like syndrome' SubClassOf 'muscular channelopathy' 'periodic paralysis with transient compartment-like syndrome' SubClassOf 'periodic paralysis' http://purl.obolibrary.org/obo/MONDO_0018343 periodic paralysis with later-onset distal motor neuropathy 'periodic paralysis with later-onset distal motor neuropathy' SubClassOf 'genetic nervous system disorder' 'periodic paralysis with later-onset distal motor neuropathy' SubClassOf 'neuromuscular disease' 'periodic paralysis with later-onset distal motor neuropathy' SubClassOf 'mitochondrial oxidative phosphorylation disorder' 'periodic paralysis with later-onset distal motor neuropathy' SubClassOf 'inborn mitochondrial myopathy' 'periodic paralysis with later-onset distal motor neuropathy' SubClassOf 'familial periodic paralysis' http://purl.obolibrary.org/obo/MONDO_0018346 ferro-cerebro-cutaneous syndrome 'ferro-cerebro-cutaneous syndrome' SubClassOf 'genetic parenchymatous liver disease' 'ferro-cerebro-cutaneous syndrome' SubClassOf 'inherited neurodegenerative disorder' 'ferro-cerebro-cutaneous syndrome' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0018340 hereditary isolated aplastic anemia 'hereditary isolated aplastic anemia' SubClassOf 'inherited aplastic anemia' http://purl.obolibrary.org/obo/MONDO_0018342 Joubert syndrome with Jeune asphyxiating thoracic dystrophy 'Joubert syndrome with Jeune asphyxiating thoracic dystrophy' SubClassOf 'Joubert syndrome and related disorders' 'Joubert syndrome with Jeune asphyxiating thoracic dystrophy' SubClassOf 'short rib-polydactyly syndrome' http://purl.obolibrary.org/obo/MONDO_0018341 3q27.3 microdeletion syndrome '3q27.3 microdeletion syndrome' SubClassOf 'genetic nervous system disorder' '3q27.3 microdeletion syndrome' SubClassOf 'congenital nervous system disorder' '3q27.3 microdeletion syndrome' SubClassOf 'syndromic intellectual disability' '3q27.3 microdeletion syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' '3q27.3 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 3' '3q27.3 microdeletion syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0018355 SIM1-related Prader-Willi-like syndrome 'SIM1-related Prader-Willi-like syndrome' SubClassOf 'Prader-Willi-like syndrome' http://purl.obolibrary.org/obo/MONDO_0018354 Prader-Willi-like syndrome 'Prader-Willi-like syndrome' SubClassOf 'syndromic genetic obesity' 'Prader-Willi-like syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Prader-Willi-like syndrome' SubClassOf 'congenital hypogonadotropic hypogonadism' http://purl.obolibrary.org/obo/MONDO_0018371 nebulin-related early-onset distal myopathy 'nebulin-related early-onset distal myopathy' SubClassOf 'autosomal recessive distal myopathy' http://purl.obolibrary.org/obo/MONDO_0018370 KLHL9-related early-onset distal myopathy 'KLHL9-related early-onset distal myopathy' SubClassOf 'autosomal dominant distal myopathy' http://purl.obolibrary.org/obo/MONDO_0018364 malignant epithelial tumor of ovary 'malignant epithelial tumor of ovary' SubClassOf 'carcinoma' 'malignant epithelial tumor of ovary' SubClassOf 'ovarian cancer' 'malignant epithelial tumor of ovary' DisjointWith 'malignant non-epithelial tumor of ovary' 'malignant epithelial tumor of ovary' SubClassOf 'ovarian epithelial tumor' http://purl.obolibrary.org/obo/MONDO_0018363 focal facial dermal dysplasia 'focal facial dermal dysplasia' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0031332 Glanzmann thrombasthenia 1 'Glanzmann thrombasthenia 1' SubClassOf 'Glanzmann thrombasthenia' http://purl.obolibrary.org/obo/MONDO_0018393 male infertility with azoospermia or oligozoospermia due to single gene mutation 'male infertility with azoospermia or oligozoospermia due to single gene mutation' SubClassOf 'male infertility' http://purl.obolibrary.org/obo/MONDO_0018384 avascular necrosis of genetic origin 'avascular necrosis of genetic origin' EquivalentTo 'avascular necrosis' and ('has modifier' some 'inherited') 'avascular necrosis of genetic origin' SubClassOf 'avascular necrosis' 'avascular necrosis of genetic origin' SubClassOf 'osteonecrosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0018383 osteonecrosis of genetic origin 'osteonecrosis of genetic origin' SubClassOf 'genetic disorder' 'osteonecrosis of genetic origin' SubClassOf 'osteonecrosis' 'osteonecrosis of genetic origin' EquivalentTo 'osteonecrosis' and ('has modifier' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0018385 osteochondrosis of genetic origin 'osteochondrosis of genetic origin' SubClassOf 'osteonecrosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0018394 male infertility with teratozoospermia due to single gene mutation 'male infertility with teratozoospermia due to single gene mutation' SubClassOf 'male infertility' http://purl.obolibrary.org/obo/MONDO_0008806 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome 'Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome' SubClassOf 'dysostosis of genetic origin' 'Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome' SubClassOf 'congenital limb malformation' http://purl.obolibrary.org/obo/MONDO_0008803 Antley-Bixler syndrome 'Antley-Bixler syndrome' SubClassOf 'craniosynostosis syndrome, autosomal recessive' 'Antley-Bixler syndrome' SubClassOf 'syndromic craniosynostosis' 'Antley-Bixler syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0008800 microphthalmia with limb anomalies 'microphthalmia with limb anomalies' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'microphthalmia with limb anomalies' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/HP_0002937 Hemivertebrae 'Hemivertebrae' SubClassOf 'Abnormality of the vertebral column' http://purl.obolibrary.org/obo/MONDO_0008809 polyneuropathy-hand defect syndrome 'polyneuropathy-hand defect syndrome' SubClassOf 'hereditary sensory and autonomic neuropathy' 'polyneuropathy-hand defect syndrome' SubClassOf 'hereditary motor and sensory neuropathy' http://purl.obolibrary.org/obo/MONDO_0008808 aplasia cutis congenita-intestinal lymphangiectasia syndrome 'aplasia cutis congenita-intestinal lymphangiectasia syndrome' SubClassOf 'primary lymphedema' 'aplasia cutis congenita-intestinal lymphangiectasia syndrome' SubClassOf 'intestinal disease' 'aplasia cutis congenita-intestinal lymphangiectasia syndrome' SubClassOf 'syndromic lymphedema' 'aplasia cutis congenita-intestinal lymphangiectasia syndrome' SubClassOf 'mixed dermis disorder' http://purl.obolibrary.org/obo/MONDO_0008816 Chiari malformation type II 'Chiari malformation type II' SubClassOf 'Chiari malformation' 'Chiari malformation type II' SubClassOf 'spina bifida cystica' http://purl.obolibrary.org/obo/MONDO_0008815 argininosuccinic aciduria 'argininosuccinic aciduria' SubClassOf 'urea cycle disorder' http://purl.obolibrary.org/obo/MONDO_0008814 hyperargininemia 'hyperargininemia' SubClassOf 'urea cycle disorder' http://purl.obolibrary.org/obo/MONDO_0008813 arachnoid cyst 'arachnoid cyst' SubClassOf 'central nervous system cystic malformation' 'arachnoid cyst' SubClassOf 'disease has feature' some 'pituitary hormone deficiency from meningeal origin' http://purl.obolibrary.org/obo/MONDO_0008812 AREDYLD syndrome 'AREDYLD syndrome' SubClassOf 'syndromic renal or urinary tract malformation' 'AREDYLD syndrome' SubClassOf 'inborn errors of metabolism' 'AREDYLD syndrome' SubClassOf 'syndromic urogenital tract malformation' 'AREDYLD syndrome' SubClassOf 'developmental anomaly of metabolic origin' 'AREDYLD syndrome' SubClassOf 'diabetes mellitus' 'AREDYLD syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0008810 familial apolipoprotein C-II deficiency 'familial apolipoprotein C-II deficiency' SubClassOf 'familial chylomicronemia syndrome' 'familial apolipoprotein C-II deficiency' SubClassOf 'familial hyperlipidemia' http://purl.obolibrary.org/obo/MONDO_0008818 arterial tortuosity syndrome 'arterial tortuosity syndrome' SubClassOf 'vascular disease' 'arterial tortuosity syndrome' SubClassOf 'inherited cutis laxa' 'arterial tortuosity syndrome' SubClassOf 'hereditary disorder of connective tissue' http://purl.obolibrary.org/obo/MONDO_0008827 progressive pseudorheumatoid arthropathy of childhood 'progressive pseudorheumatoid arthropathy of childhood' SubClassOf 'genetic disorder' 'progressive pseudorheumatoid arthropathy of childhood' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0008826 arthrogryposis-hyperkeratosis syndrome, lethal form 'arthrogryposis-hyperkeratosis syndrome, lethal form' SubClassOf 'arthrogryposis multiplex congenita' http://purl.obolibrary.org/obo/MONDO_0008825 arthrogryposis multiplex congenita-whistling face syndrome 'arthrogryposis multiplex congenita-whistling face syndrome' SubClassOf 'arthrogryposis multiplex congenita' http://purl.obolibrary.org/obo/MONDO_0008824 fetal akinesia deformation sequence 'fetal akinesia deformation sequence' SubClassOf 'arthrogryposis multiplex congenita' 'fetal akinesia deformation sequence' SubClassOf 'thoracic malformation' 'fetal akinesia deformation sequence' SubClassOf 'syndromic respiratory or mediastinal malformation' 'fetal akinesia deformation sequence' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008823 arthrogryposis multiplex congenita 2, neurogenic type 'arthrogryposis multiplex congenita 2, neurogenic type' SubClassOf 'arthrogryposis multiplex congenita' http://purl.obolibrary.org/obo/MONDO_0008838 ataxia - deafness - intellectual disability syndrome 'ataxia - deafness - intellectual disability syndrome' SubClassOf 'X-linked cerebellar ataxia' 'ataxia - deafness - intellectual disability syndrome' SubClassOf 'X-linked deafness' 'ataxia - deafness - intellectual disability syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0008832 right atrial isomerism 'right atrial isomerism' SubClassOf 'visceral heterotaxy' 'right atrial isomerism' SubClassOf 'genetic cardiac anomaly' 'right atrial isomerism' SubClassOf 'syndromic renal or urinary tract malformation' 'right atrial isomerism' SubClassOf 'syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0008830 aspartylglucosaminuria 'aspartylglucosaminuria' SubClassOf 'bone disease' 'aspartylglucosaminuria' SubClassOf 'neurometabolic disease' 'aspartylglucosaminuria' SubClassOf 'oligosaccharidosis' http://purl.obolibrary.org/obo/MONDO_0008849 atrophoderma vermiculata 'atrophoderma vermiculata' SubClassOf 'keratosis pilaris atrophicans' http://purl.obolibrary.org/obo/MONDO_0008847 atrichia with papular lesions 'atrichia with papular lesions' SubClassOf 'genetic alopecia' http://purl.obolibrary.org/obo/MONDO_0008846 atransferrinemia 'atransferrinemia' SubClassOf 'inherited deficiency anemia' 'atransferrinemia' SubClassOf 'disorder of iron metabolism and transport' 'atransferrinemia' SubClassOf 'inborn metal metabolism disorder' http://purl.obolibrary.org/obo/MONDO_0008843 atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome 'atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome' SubClassOf 'syndromic urogenital tract malformation' 'atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome' SubClassOf 'epilepsy syndrome' 'atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome' SubClassOf 'syndromic renal or urinary tract malformation' 'atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 'ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia' SubClassOf 'disease has feature' some 'coenzyme Q10 deficiency' 'ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia' SubClassOf 'ataxia-telangiectasia-like disorder' http://purl.obolibrary.org/obo/MONDO_0008840 ataxia telangiectasia 'ataxia telangiectasia' SubClassOf 'neurocutaneous syndrome' 'ataxia telangiectasia' SubClassOf 'genetic nervous system disorder' 'ataxia telangiectasia' SubClassOf 'genetic skin disease' 'ataxia telangiectasia' SubClassOf 'inherited nervous system cancer-predisposing syndrome' 'ataxia telangiectasia' SubClassOf 'skin vascular disease' 'ataxia telangiectasia' SubClassOf 'combined immunodeficiency' 'ataxia telangiectasia' SubClassOf 'inherited primary ovarian failure' 'ataxia telangiectasia' SubClassOf 'neurovascular disorder' http://purl.obolibrary.org/obo/MONDO_0008858 Behr syndrome 'Behr syndrome' SubClassOf 'genetic disorder' 'Behr syndrome' SubClassOf 'syndromic hereditary optic neuropathy' http://purl.obolibrary.org/obo/MONDO_0008857 Beemer-Ertbruggen syndrome 'Beemer-Ertbruggen syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008855 MHC class II deficiency 'MHC class II deficiency' SubClassOf 'non-SCID combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0008853 Barber-Say syndrome 'Barber-Say syndrome' SubClassOf 'congenital entropion' 'Barber-Say syndrome' SubClassOf 'secondary ectropion' 'Barber-Say syndrome' SubClassOf 'microblepharon-ablephara syndrome' 'Barber-Say syndrome' SubClassOf 'hypertrichosis of eyelid' 'Barber-Say syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Barber-Say syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0008852 congenital central hypoventilation syndrome 'congenital central hypoventilation syndrome' SubClassOf 'autonomic nervous system disease' 'congenital central hypoventilation syndrome' SubClassOf 'congenital nervous system disorder' 'congenital central hypoventilation syndrome' SubClassOf 'neurocristopathy' 'congenital central hypoventilation syndrome' SubClassOf 'has modifier' some 'rare' 'congenital central hypoventilation syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0008850 Cooper-Jabs syndrome 'Cooper-Jabs syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008867 biliary atresia 'biliary atresia' SubClassOf 'non-syndromic visceral malformation' 'biliary atresia' SubClassOf 'cholestasis' 'biliary atresia' SubClassOf 'Non-Neoplastic Bile Duct Disorder' http://purl.obolibrary.org/obo/MONDO_0008865 Bietti crystalline corneoretinal dystrophy 'Bietti crystalline corneoretinal dystrophy' SubClassOf 'familial flecked retinopathy' http://purl.obolibrary.org/obo/MONDO_0008864 Biemond syndrome type 2 'Biemond syndrome type 2' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Biemond syndrome type 2' SubClassOf 'congenital nervous system disorder' 'Biemond syndrome type 2' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008863 sitosterolemia 'sitosterolemia' SubClassOf 'syndromic dyslipidemia' http://purl.obolibrary.org/obo/MONDO_0008879 Bowen-Conradi syndrome 'Bowen-Conradi syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Bowen-Conradi syndrome' SubClassOf 'autosomal recessive disease' 'Bowen-Conradi syndrome' SubClassOf 'genetic nervous system disorder' 'Bowen-Conradi syndrome' SubClassOf 'congenital nervous system disorder' 'Bowen-Conradi syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Bowen-Conradi syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008878 bone dysplasia, lethal Holmgren type 'bone dysplasia, lethal Holmgren type' SubClassOf 'lethal chondrodysplasia' http://purl.obolibrary.org/obo/MONDO_0008877 blue diaper syndrome 'blue diaper syndrome' SubClassOf 'inborn disorder of amino acid absorption and transport' http://purl.obolibrary.org/obo/MONDO_0008876 Bloom syndrome 'Bloom syndrome' SubClassOf 'autosomal recessive disease' 'Bloom syndrome' SubClassOf 'disorder of development or morphogenesis' 'Bloom syndrome' SubClassOf 'microcephaly, growth restriction and increased sister chromatid exchange' 'Bloom syndrome' SubClassOf 'hereditary photodermatosis' 'Bloom syndrome' SubClassOf 'tumor of hematopoietic and lymphoid tissues' 'Bloom syndrome' SubClassOf 'inherited skin tumor' http://purl.obolibrary.org/obo/MONDO_0008875 blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome 'blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome' SubClassOf 'eyelids malposition disorder' 'blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008874 Bangstad syndrome 'Bangstad syndrome' SubClassOf 'polyendocrinopathy' http://purl.obolibrary.org/obo/MONDO_0008872 microcephalic osteodysplastic primordial dwarfism type II 'microcephalic osteodysplastic primordial dwarfism type II' SubClassOf 'osteochondrodysplasia' 'microcephalic osteodysplastic primordial dwarfism type II' SubClassOf 'microcephalic primordial dwarfism' 'microcephalic osteodysplastic primordial dwarfism type II' SubClassOf 'syndromic genetic obesity' 'microcephalic osteodysplastic primordial dwarfism type II' SubClassOf 'microcephalic osteodysplastic primordial dwarfism' http://purl.obolibrary.org/obo/MONDO_0008870 bird headed-dwarfism, Montreal type 'bird headed-dwarfism, Montreal type' SubClassOf 'microcephalic primordial dwarfism' http://purl.obolibrary.org/obo/MONDO_0008885 Elsahy-Waters syndrome 'Elsahy-Waters syndrome' SubClassOf 'congenital nervous system disorder' 'Elsahy-Waters syndrome' SubClassOf 'genetic nervous system disorder' 'Elsahy-Waters syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Elsahy-Waters syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Elsahy-Waters syndrome' SubClassOf 'syndromic intellectual disability' 'Elsahy-Waters syndrome' SubClassOf 'syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0008884 oculoosteocutaneous syndrome 'oculoosteocutaneous syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0008882 congenital bowing of long bones 'congenital bowing of long bones' SubClassOf 'bent bone dysplasia' 'congenital bowing of long bones' SubClassOf 'congenital deformities of limbs' http://purl.obolibrary.org/obo/MONDO_0008881 kyphomelic dysplasia 'kyphomelic dysplasia' SubClassOf 'bent bone dysplasia' http://purl.obolibrary.org/obo/MONDO_0018209 Alexander disease type I 'Alexander disease type I' SubClassOf 'Alexander disease' http://purl.obolibrary.org/obo/MONDO_0018208 neurofibromatosis type 1 due to NF1 mutation or intragenic deletion 'neurofibromatosis type 1 due to NF1 mutation or intragenic deletion' SubClassOf 'neurofibromatosis type 1' http://purl.obolibrary.org/obo/MONDO_0018205 distal monosomy 1q 'distal monosomy 1q' SubClassOf 'genetic nervous system disorder' 'distal monosomy 1q' SubClassOf 'syndromic intellectual disability' 'distal monosomy 1q' SubClassOf 'chromosome 1q deletion' http://purl.obolibrary.org/obo/MONDO_0018204 20q11.2 microduplication syndrome '20q11.2 microduplication syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '20q11.2 microduplication syndrome' SubClassOf 'partial trisomy of the long arm of chromosome 20' '20q11.2 microduplication syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0018207 2p13.2 microdeletion syndrome '2p13.2 microdeletion syndrome' SubClassOf 'partial deletion of the short arm of chromosome 2' '2p13.2 microdeletion syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '2p13.2 microdeletion syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0018206 childhood-onset autosomal recessive myopathy with external ophthalmoplegia 'childhood-onset autosomal recessive myopathy with external ophthalmoplegia' SubClassOf 'neuro-ophthalmological disease' 'childhood-onset autosomal recessive myopathy with external ophthalmoplegia' SubClassOf 'inclusion myopathy' 'childhood-onset autosomal recessive myopathy with external ophthalmoplegia' SubClassOf 'myopathy, proximal, and ophthalmoplegia' http://purl.obolibrary.org/obo/MONDO_0018203 LMNA-related cardiocutaneous progeria syndrome 'LMNA-related cardiocutaneous progeria syndrome' SubClassOf 'heart disease' 'LMNA-related cardiocutaneous progeria syndrome' SubClassOf 'premature aging syndrome' 'LMNA-related cardiocutaneous progeria syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008899 camptodactyly syndrome, Guadalajara type 2 'camptodactyly syndrome, Guadalajara type 2' SubClassOf 'camptodactyly syndrome, Guadalajara' 'camptodactyly syndrome, Guadalajara type 2' SubClassOf 'congenital limb malformation' 'camptodactyly syndrome, Guadalajara type 2' SubClassOf 'dysostosis of genetic origin' 'camptodactyly syndrome, Guadalajara type 2' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008898 camptodactyly syndrome, Guadalajara type 1 'camptodactyly syndrome, Guadalajara type 1' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'camptodactyly syndrome, Guadalajara type 1' SubClassOf 'camptodactyly syndrome, Guadalajara' http://purl.obolibrary.org/obo/MONDO_0008896 campomelia, Cumming type 'campomelia, Cumming type' SubClassOf 'neurovascular disorder' 'campomelia, Cumming type' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'campomelia, Cumming type' SubClassOf 'syndromic lymphedema' 'campomelia, Cumming type' SubClassOf 'bent bone dysplasia' 'campomelia, Cumming type' SubClassOf 'lymphatic malformation' http://purl.obolibrary.org/obo/MONDO_0008895 hereditary arterial and articular multiple calcification syndrome 'hereditary arterial and articular multiple calcification syndrome' SubClassOf 'has modifier' some 'rare' 'hereditary arterial and articular multiple calcification syndrome' SubClassOf 'vascular disease' 'hereditary arterial and articular multiple calcification syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008894 cataract-hypertrichosis-intellectual disability syndrome 'cataract-hypertrichosis-intellectual disability syndrome' SubClassOf 'genetic nervous system disorder' 'cataract-hypertrichosis-intellectual disability syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'cataract-hypertrichosis-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'cataract-hypertrichosis-intellectual disability syndrome' SubClassOf 'syndromic cataract' 'cataract-hypertrichosis-intellectual disability syndrome' SubClassOf 'hypertrichosis' http://purl.obolibrary.org/obo/MONDO_0008893 C syndrome 'C syndrome' SubClassOf 'syndromic craniosynostosis' 'C syndrome' SubClassOf 'genetic nervous system disorder' 'C syndrome' SubClassOf 'syndromic intellectual disability' 'C syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'C syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'C syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0008892 progressive familial intrahepatic cholestasis type 1 'progressive familial intrahepatic cholestasis type 1' SubClassOf 'progressive familial intrahepatic cholestasis' http://purl.obolibrary.org/obo/MONDO_0008891 riboflavin transporter deficiency 'riboflavin transporter deficiency' SubClassOf 'hereditary motor neuron disease' 'riboflavin transporter deficiency' SubClassOf 'disease has major feature' some 'bulbospinal muscular atrophy' http://purl.obolibrary.org/obo/MONDO_0018216 Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome 'Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome' SubClassOf 'Koolen-de Vries syndrome' 'Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 17' http://purl.obolibrary.org/obo/MONDO_0018218 autosomal recessive cerebral atrophy 'autosomal recessive cerebral atrophy' SubClassOf 'inherited neurodegenerative disorder' 'autosomal recessive cerebral atrophy' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0018217 Koolen-de Vries syndrome due to a point mutation 'Koolen-de Vries syndrome due to a point mutation' SubClassOf 'Koolen-de Vries syndrome' http://purl.obolibrary.org/obo/MONDO_0018212 familial cervical artery dissection 'familial cervical artery dissection' SubClassOf 'cervical artery dissection' 'familial cervical artery dissection' SubClassOf 'genetic central nervous system and retinal vascular disease' 'familial cervical artery dissection' EquivalentTo 'cervical artery dissection' and ('has modifier' some 'inherited') 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 nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0018213 hereditary sensory and autonomic neuropathy type 1 'hereditary sensory and autonomic neuropathy type 1' SubClassOf 'disorder of phospholipids, sphingolipids and fatty acids biosynthesis' 'hereditary sensory and autonomic neuropathy type 1' SubClassOf 'autosomal dominant hereditary sensory and autonomic neuropathy' http://purl.obolibrary.org/obo/MONDO_0018210 Alexander disease type II 'Alexander disease type II' SubClassOf 'Alexander disease' http://purl.obolibrary.org/obo/MONDO_0018226 infantile epileptic-dyskinetic encephalopathy 'infantile epileptic-dyskinetic encephalopathy' SubClassOf 'persistent combined dystonia' http://purl.obolibrary.org/obo/MONDO_0018228 bipartite talus 'bipartite talus' SubClassOf 'dysostosis of genetic origin' 'bipartite talus' SubClassOf 'non-syndromic limb malformation' http://purl.obolibrary.org/obo/MONDO_0033864 infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome 'infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome' SubClassOf 'neuro-ophthalmological disease' 'infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome' SubClassOf 'movement disorder' 'infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome' SubClassOf 'genetic nervous system disorder' 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 'congenital nervous system disorder' 'X-linked intellectual disability due to GRIA3 anomalies' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'X-linked intellectual disability due to GRIA3 anomalies' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0018237 acrofacial dysostosis 'acrofacial dysostosis' SubClassOf 'dysostosis of genetic origin' 'acrofacial dysostosis' SubClassOf 'congenital limb malformation' http://purl.obolibrary.org/obo/MONDO_0018239 aggrecan-related bone disorder 'aggrecan-related bone disorder' SubClassOf 'bone disease' http://purl.obolibrary.org/obo/MONDO_0018230 primary bone dysplasia 'primary bone dysplasia' SubClassOf 'has modifier' some 'rare' 'primary bone dysplasia' SubClassOf 'bone development disease' http://purl.obolibrary.org/obo/MONDO_0018250 diffuse palmoplantar keratoderma with painful fissures 'diffuse palmoplantar keratoderma with painful fissures' SubClassOf 'autosomal dominant isolated diffuse palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0018249 finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome 'finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome' SubClassOf 'syndromic disease' 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' 'intellectual disability-seizures-macrocephaly-obesity syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'intellectual disability-seizures-macrocephaly-obesity syndrome' SubClassOf 'genetic nervous system disorder' 'intellectual disability-seizures-macrocephaly-obesity syndrome' SubClassOf 'syndromic genetic obesity' 'intellectual disability-seizures-macrocephaly-obesity syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0018245 2p21 microdeletion syndrome without cystinuria '2p21 microdeletion syndrome without cystinuria' SubClassOf 'homozygous 2p21 microdeletion syndrome' http://purl.obolibrary.org/obo/MONDO_0018244 obesity due to SIM1 deficiency 'obesity due to SIM1 deficiency' SubClassOf 'genetic non-syndromic obesity' http://purl.obolibrary.org/obo/MONDO_0018247 CADDS 'CADDS' SubClassOf 'leukodystrophy' 'CADDS' SubClassOf 'peroxisomal disease' 'CADDS' SubClassOf 'developmental anomaly of metabolic origin' 'CADDS' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0018246 homozygous 2p21 microdeletion syndrome 'homozygous 2p21 microdeletion syndrome' SubClassOf '2p21 microdeletion syndrome' 'homozygous 2p21 microdeletion syndrome' SubClassOf 'partial deletion of the short arm of chromosome 2' http://purl.obolibrary.org/obo/MONDO_0018241 primary short bowel syndrome 'primary short bowel syndrome' SubClassOf 'short bowel syndrome' http://purl.obolibrary.org/obo/MONDO_0018240 TRPV4-related bone disorder 'TRPV4-related bone disorder' SubClassOf 'bone disease' 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 'has modifier' some 'rare' 'intellectual disability-hyperkinetic movement-truncal ataxia syndrome' SubClassOf 'movement disorder' http://purl.obolibrary.org/obo/MONDO_0018255 spondylometaphyseal dysplasia, Czarny-Ratajczak type 'spondylometaphyseal dysplasia, Czarny-Ratajczak type' SubClassOf 'spondylometaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0018257 familial syringomyelia 'familial syringomyelia' SubClassOf 'genetic nervous system disorder' 'familial syringomyelia' SubClassOf 'primary syringomyelia' 'familial syringomyelia' EquivalentTo 'syringomyelia' and ('has modifier' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0018252 focal palmoplantar keratoderma with joint keratoses 'focal palmoplantar keratoderma with joint keratoses' SubClassOf 'isolated focal palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0018254 spondyloepimetaphyseal dysplasia, Isidor type 'spondyloepimetaphyseal dysplasia, Isidor type' SubClassOf 'spondyloepiphyseal dysplasia' 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' 'intellectual disability-facial dysmorphism-hand anomalies syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0018267 combined cervical dystonia 'combined cervical dystonia' SubClassOf 'persistent combined dystonia' http://purl.obolibrary.org/obo/MONDO_0018266 ataxia - telangiectasia variant 'ataxia - telangiectasia variant' SubClassOf 'persistent combined dystonia' 'ataxia - telangiectasia variant' SubClassOf 'disease shares features of' some 'ataxia telangiectasia' http://purl.obolibrary.org/obo/MONDO_0018269 white platelet syndrome 'white platelet syndrome' SubClassOf 'alpha granule disease' http://purl.obolibrary.org/obo/MONDO_0018268 Medich giant platelet syndrome 'Medich giant platelet syndrome' SubClassOf 'alpha granule disease' http://purl.obolibrary.org/obo/MONDO_0018264 oculocutaneous albinism type 6 'oculocutaneous albinism type 6' SubClassOf 'oculocutaneous albinism' http://purl.obolibrary.org/obo/MONDO_0018281 congenital muscular dystrophy with hyperlaxity 'congenital muscular dystrophy with hyperlaxity' SubClassOf 'congenital muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0018280 muscle-eye-brain disease with bilateral multicystic leucodystrophy 'muscle-eye-brain disease with bilateral multicystic leucodystrophy' SubClassOf 'cobblestone lissencephaly' 'muscle-eye-brain disease with bilateral multicystic leucodystrophy' SubClassOf 'muscular dystrophy-dystroglycanopathy' 'muscle-eye-brain disease with bilateral multicystic leucodystrophy' SubClassOf 'primary qualitative or quantitative defects of alpha-dystroglycan' http://purl.obolibrary.org/obo/MONDO_0018283 primary qualitative or quantitative defects of alpha-dystroglycan 'primary qualitative or quantitative defects of alpha-dystroglycan' SubClassOf 'qualitative or quantitative defects of alpha-dystroglycan' http://purl.obolibrary.org/obo/MONDO_0018282 qualitative or quantitative defects of alpha-dystroglycan 'qualitative or quantitative defects of alpha-dystroglycan' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' http://purl.obolibrary.org/obo/MONDO_0018278 congenital muscular dystrophy with intellectual disability 'congenital muscular dystrophy with intellectual disability' SubClassOf 'disorder of O-mannosylglycan synthesis' 'congenital muscular dystrophy with intellectual disability' SubClassOf 'neurometabolic disease' 'congenital muscular dystrophy with intellectual disability' SubClassOf 'muscular dystrophy-dystroglycanopathy' http://purl.obolibrary.org/obo/MONDO_0018277 congenital muscular dystrophy with cerebellar involvement 'congenital muscular dystrophy with cerebellar involvement' SubClassOf 'neurometabolic disease' 'congenital muscular dystrophy with cerebellar involvement' SubClassOf 'muscular dystrophy-dystroglycanopathy' 'congenital muscular dystrophy with cerebellar involvement' SubClassOf 'disorder of O-mannosylglycan synthesis' http://purl.obolibrary.org/obo/MONDO_0018279 congenital muscular dystrophy without intellectual disability 'congenital muscular dystrophy without intellectual disability' SubClassOf 'disorder of O-mannosylglycan synthesis' 'congenital muscular dystrophy without intellectual disability' SubClassOf 'neurometabolic disease' 'congenital muscular dystrophy without intellectual disability' SubClassOf 'muscular dystrophy-dystroglycanopathy' http://purl.obolibrary.org/obo/MONDO_0018274 GM3 synthase deficiency 'GM3 synthase deficiency' SubClassOf 'inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' 'GM3 synthase deficiency' SubClassOf 'congenital nervous system disorder' 'GM3 synthase deficiency' SubClassOf 'disorder of phospholipids, sphingolipids and fatty acids biosynthesis' 'GM3 synthase deficiency' SubClassOf 'autosomal recessive disease' 'GM3 synthase deficiency' SubClassOf 'skin pigmentation disorder' 'GM3 synthase deficiency' SubClassOf 'genetic skin disease' 'GM3 synthase deficiency' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0018273 XYLT1-CDG 'XYLT1-CDG' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'XYLT1-CDG' SubClassOf 'disorder of O-xylosylglycan synthesis' 'XYLT1-CDG' SubClassOf 'congenital nervous system disorder' 'XYLT1-CDG' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'XYLT1-CDG' SubClassOf 'developmental anomaly of metabolic origin' 'XYLT1-CDG' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0018276 muscular dystrophy-dystroglycanopathy 'muscular dystrophy-dystroglycanopathy' SubClassOf 'congenital muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0018292 congenital disorder of glycosylation-related bone disorder 'congenital disorder of glycosylation-related bone disorder' SubClassOf 'developmental anomaly of metabolic origin' 'congenital disorder of glycosylation-related bone disorder' SubClassOf 'bone disease' 'congenital disorder of glycosylation-related bone disorder' SubClassOf 'congenital disorder of glycosylation' http://purl.obolibrary.org/obo/MONDO_0018298 multicentric osteolysis-nodulosis-arthropathy spectrum 'multicentric osteolysis-nodulosis-arthropathy spectrum' SubClassOf 'primary osteolysis' http://purl.obolibrary.org/obo/MONDO_0018297 obsolete hypotonia-speech impairment-severe cognitive delay syndrome 'obsolete hypotonia-speech impairment-severe cognitive delay syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0008707 acro-renal-mandibular syndrome 'acro-renal-mandibular syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008706 Ackerman syndrome 'Ackerman syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'Ackerman syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008705 lysosomal acid phosphatase deficiency 'lysosomal acid phosphatase deficiency' SubClassOf 'lysosomal storage disease' http://purl.obolibrary.org/obo/MONDO_0008704 short-limb skeletal dysplasia with severe combined immunodeficiency 'short-limb skeletal dysplasia with severe combined immunodeficiency' SubClassOf 'T-B- severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0008703 acromesomelic dysplasia 2A 'acromesomelic dysplasia 2A' SubClassOf 'achondrogenesis' 'acromesomelic dysplasia 2A' SubClassOf 'acromesomelic dysplasia' http://purl.obolibrary.org/obo/MONDO_0008702 achondrogenesis type II 'achondrogenesis type II' SubClassOf 'achondrogenesis' 'achondrogenesis type II' SubClassOf 'hereditary disorder of connective tissue' 'achondrogenesis type II' SubClassOf 'type 2 collagenopathy' http://purl.obolibrary.org/obo/MONDO_0008701 achondrogenesis type IA 'achondrogenesis type IA' SubClassOf 'achondrogenesis' http://purl.obolibrary.org/obo/MONDO_0008700 acheiropody 'acheiropody' SubClassOf 'osteochondrodysplasia' 'acheiropody' SubClassOf 'non-syndromic terminal limb defects' http://purl.obolibrary.org/obo/MONDO_0008709 acrocephalopolydactyly 'acrocephalopolydactyly' SubClassOf 'syndromic craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0008708 acrocallosal syndrome 'acrocallosal syndrome' SubClassOf 'syndromic intellectual disability' 'acrocallosal syndrome' SubClassOf 'congenital nervous system disorder' 'acrocallosal syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'acrocallosal syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'acrocallosal syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0008717 acromesomelic dysplasia 2C, Hunter-Thompson type 'acromesomelic dysplasia 2C, Hunter-Thompson type' SubClassOf 'acromesomelic dysplasia' http://purl.obolibrary.org/obo/MONDO_0008716 acrogeria 'acrogeria' SubClassOf 'genetic skin disease' 'acrogeria' SubClassOf 'premature aging syndrome' http://purl.obolibrary.org/obo/MONDO_0008715 acrofrontofacionasal dysostosis 'acrofrontofacionasal dysostosis' SubClassOf 'acrofacial dysostosis' http://purl.obolibrary.org/obo/MONDO_0008714 acrofacial dysostosis Rodriguez type 'acrofacial dysostosis Rodriguez type' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'acrofacial dysostosis Rodriguez type' SubClassOf 'branchial arch or oral-acral syndrome' 'acrofacial dysostosis Rodriguez type' SubClassOf 'acrofacial dysostosis' 'acrofacial dysostosis Rodriguez type' SubClassOf 'genetic nervous system disorder' 'acrofacial dysostosis Rodriguez type' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' '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 'genetic skin disease' 'acrodermatitis enteropathica' SubClassOf 'inborn metal metabolism disorder' 'acrodermatitis enteropathica' SubClassOf 'intestinal disease due to fat malabsorption' 'acrodermatitis enteropathica' SubClassOf 'disorder of zinc metabolism' http://purl.obolibrary.org/obo/MONDO_0008712 acrocraniofacial dysostosis 'acrocraniofacial dysostosis' SubClassOf 'acrofacial dysostosis' 'acrocraniofacial dysostosis' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008711 Goodman syndrome 'Goodman syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Goodman syndrome' SubClassOf 'acrocephalopolysyndactyly' 'Goodman syndrome' SubClassOf 'disease shares features of' some 'Carpenter syndrome' http://purl.obolibrary.org/obo/MONDO_0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency 'congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency' SubClassOf '46,XX disorder of sex development induced by fetal androgens excess' 'congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency' SubClassOf 'has modifier' some 'congenital' 'congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency' SubClassOf 'developmental anomaly of metabolic origin' 'congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency' SubClassOf 'congenital adrenal hyperplasia' http://purl.obolibrary.org/obo/MONDO_0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 'classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'female infertility' 'classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'has modifier' some 'congenital' 'classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'developmental anomaly of metabolic origin' 'classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'male infertility' 'classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'genetic infertility' 'classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf '46,XX disorder of sex development induced by fetal androgens excess' 'classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'congenital adrenal hyperplasia' http://purl.obolibrary.org/obo/MONDO_0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency 'congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf '46,XY disorder of sex development of endocrine origin' 'congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf 'has modifier' some 'congenital' 'congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf 'congenital adrenal hyperplasia' 'congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf 'developmental anomaly of metabolic origin' 'congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf '46,XX disorder of sex development induced by fetal androgens excess' http://purl.obolibrary.org/obo/MONDO_0008725 congenital lipoid adrenal hyperplasia due to STAR deficency 'congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'female infertility' 'congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'inherited primary ovarian failure' 'congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'genetic infertility' 'congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'congenital adrenal hyperplasia' 'congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'developmental anomaly of metabolic origin' 'congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf '46,XY disorder of sex development of endocrine origin' http://purl.obolibrary.org/obo/MONDO_0008724 adducted thumbs-arthrogryposis syndrome, Christian type 'adducted thumbs-arthrogryposis syndrome, Christian type' SubClassOf 'arthrogryposis multiplex congenita' http://purl.obolibrary.org/obo/MONDO_0008723 very long chain acyl-CoA dehydrogenase deficiency 'very long chain acyl-CoA dehydrogenase deficiency' SubClassOf 'long chain acyl-CoA dehydrogenase deficiency' http://purl.obolibrary.org/obo/MONDO_0008722 short chain acyl-CoA dehydrogenase deficiency 'short chain acyl-CoA dehydrogenase deficiency' SubClassOf 'muscular lipidosis' 'short chain acyl-CoA dehydrogenase deficiency' SubClassOf 'acyl-CoA dehydrogenase deficiency' http://purl.obolibrary.org/obo/MONDO_0008721 medium chain acyl-CoA dehydrogenase deficiency 'medium chain acyl-CoA dehydrogenase deficiency' SubClassOf 'acyl-CoA dehydrogenase deficiency' http://purl.obolibrary.org/obo/MONDO_0008737 congenital afibrinogenemia 'congenital afibrinogenemia' SubClassOf 'familial dysfibrinogenemia' http://purl.obolibrary.org/obo/MONDO_0008733 familial glucocorticoid deficiency 'familial glucocorticoid deficiency' SubClassOf 'has modifier' some 'rare' 'familial glucocorticoid deficiency' SubClassOf 'chronic primary adrenal insufficiency' 'familial glucocorticoid deficiency' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008731 familial adrenal hypoplasia with absent pituitary luteinizing hormone 'familial adrenal hypoplasia with absent pituitary luteinizing hormone' SubClassOf 'chronic primary adrenal insufficiency' 'familial adrenal hypoplasia with absent pituitary luteinizing hormone' SubClassOf 'has modifier' some 'congenital' 'familial adrenal hypoplasia with absent pituitary luteinizing hormone' SubClassOf 'congenital hypogonadotropic hypogonadism' 'familial adrenal hypoplasia with absent pituitary luteinizing hormone' SubClassOf '46,XY disorder of sex development' http://purl.obolibrary.org/obo/MONDO_0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency 'congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'has modifier' some 'congenital' 'congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf '46,XY disorder of sex development of endocrine origin' 'congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'developmental anomaly of metabolic origin' 'congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'congenital adrenal hyperplasia' http://purl.obolibrary.org/obo/MONDO_0008749 pseudohypoparathyroidism type 2 'pseudohypoparathyroidism type 2' SubClassOf 'pseudohypoparathyroidism' http://purl.obolibrary.org/obo/MONDO_0008747 oculocutaneous albinism type 3 'oculocutaneous albinism type 3' SubClassOf 'oculocutaneous albinism' http://purl.obolibrary.org/obo/MONDO_0008746 oculocutaneous albinism type 2 'oculocutaneous albinism type 2' SubClassOf 'oculocutaneous albinism' http://purl.obolibrary.org/obo/MONDO_0008745 oculocutaneous albinism type 1A 'oculocutaneous albinism type 1A' SubClassOf 'autosomal recessive ocular albinism' 'oculocutaneous albinism type 1A' SubClassOf 'oculocutaneous albinism type 1' http://purl.obolibrary.org/obo/MONDO_0008744 alar cartilages hypoplasia-coloboma-telecanthus syndrome 'alar cartilages hypoplasia-coloboma-telecanthus syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008743 Stimmler syndrome 'Stimmler syndrome' SubClassOf 'congenital nervous system disorder' 'Stimmler syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Stimmler syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008742 autosomal dominant severe congenital neutropenia 'autosomal dominant severe congenital neutropenia' SubClassOf 'autosomal dominant disease' 'autosomal dominant severe congenital neutropenia' SubClassOf 'severe congenital neutropenia' http://purl.obolibrary.org/obo/MONDO_0008741 PAGOD syndrome 'PAGOD syndrome' SubClassOf 'syndromic diaphragmatic or thoracic malformation' 'PAGOD syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'PAGOD syndrome' SubClassOf '46,XY disorder of sex development' 'PAGOD syndrome' SubClassOf 'syndromic uterovaginal malformation' http://purl.obolibrary.org/obo/MONDO_0008740 agnathia-otocephaly complex 'agnathia-otocephaly complex' SubClassOf 'syndromic intellectual disability' 'agnathia-otocephaly complex' SubClassOf 'genetic nervous system disorder' 'agnathia-otocephaly complex' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'agnathia-otocephaly complex' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'agnathia-otocephaly complex' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0008759 oxoglutaricaciduria 'oxoglutaricaciduria' SubClassOf 'neurometabolic disease' 'oxoglutaricaciduria' SubClassOf 'inborn mitochondrial metabolism disorder' 'oxoglutaricaciduria' SubClassOf 'metabolic epilepsy' 'oxoglutaricaciduria' SubClassOf 'tricarboxylic acid cycle disorder' 'oxoglutaricaciduria' SubClassOf 'genetic peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0008758 mitochondrial DNA depletion syndrome 4a 'mitochondrial DNA depletion syndrome 4a' SubClassOf 'neurometabolic disease' 'mitochondrial DNA depletion syndrome 4a' SubClassOf 'metabolic epilepsy' 'mitochondrial DNA depletion syndrome 4a' SubClassOf 'mitochondrial DNA depletion syndrome, hepatocerebral form' 'mitochondrial DNA depletion syndrome 4a' SubClassOf 'inherited neurodegenerative disorder' 'mitochondrial DNA depletion syndrome 4a' SubClassOf 'genetic peripheral neuropathy' 'mitochondrial DNA depletion syndrome 4a' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0008757 alopecia universalis congenita 'alopecia universalis congenita' SubClassOf 'alopecia, isolated' http://purl.obolibrary.org/obo/MONDO_0008756 alopecia - intellectual disability syndrome 'alopecia - intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'alopecia - intellectual disability syndrome' SubClassOf 'genetic nervous system disorder' 'alopecia - intellectual disability syndrome' SubClassOf 'genetic alopecia' http://purl.obolibrary.org/obo/MONDO_0008755 Moynahan syndrome 'Moynahan syndrome' SubClassOf 'epilepsy syndrome' 'Moynahan syndrome' SubClassOf 'syndromic intellectual disability' 'Moynahan syndrome' SubClassOf 'hyperpigmentation of the skin' http://purl.obolibrary.org/obo/MONDO_0008754 alopecia - contractures - dwarfism - intellectual disability syndrome 'alopecia - contractures - dwarfism - intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'alopecia - contractures - dwarfism - intellectual disability syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'alopecia - contractures - dwarfism - intellectual disability syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0008753 alkaptonuria 'alkaptonuria' SubClassOf 'pigmented conjunctival lesion' 'alkaptonuria' SubClassOf 'genetic skin disease' 'alkaptonuria' SubClassOf 'disorder of tyrosine metabolism' http://purl.obolibrary.org/obo/MONDO_0008752 Alexander disease 'Alexander disease' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0008750 microcephaly-albinism-digital anomalies syndrome 'microcephaly-albinism-digital anomalies syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008769 neuronal ceroid lipofuscinosis 2 'neuronal ceroid lipofuscinosis 2' SubClassOf 'juvenile neuronal ceroid lipofuscinosis' 'neuronal ceroid lipofuscinosis 2' SubClassOf 'late infantile neuronal ceroid lipofuscinosis' http://purl.obolibrary.org/obo/MONDO_0008768 ceroid lipofuscinosis, neuronal, 6B (Kufs type) 'ceroid lipofuscinosis, neuronal, 6B (Kufs type)' SubClassOf 'adult neuronal ceroid lipofuscinosis' http://purl.obolibrary.org/obo/MONDO_0008767 neuronal ceroid lipofuscinosis 3 'neuronal ceroid lipofuscinosis 3' SubClassOf 'juvenile neuronal ceroid lipofuscinosis' http://purl.obolibrary.org/obo/MONDO_0008766 amaurosis-hypertrichosis syndrome 'amaurosis-hypertrichosis syndrome' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0008763 Alstrom syndrome 'Alstrom syndrome' SubClassOf 'ciliopathy' 'Alstrom syndrome' SubClassOf 'syndromic genetic hearing loss' 'Alstrom syndrome' SubClassOf 'autosomal recessive disease' 'Alstrom syndrome' SubClassOf 'syndromic genetic obesity' http://purl.obolibrary.org/obo/MONDO_0008762 autosomal recessive Alport syndrome 'autosomal recessive Alport syndrome' SubClassOf 'Alport syndrome' 'autosomal recessive Alport syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0008777 gelatinous drop-like corneal dystrophy 'gelatinous drop-like corneal dystrophy' SubClassOf 'epithelial and subepithelial corneal dystrophy' 'gelatinous drop-like corneal dystrophy' SubClassOf 'superficial corneal dystrophy' 'gelatinous drop-like corneal dystrophy' SubClassOf 'genetic disorder' 'gelatinous drop-like corneal dystrophy' SubClassOf 'lattice corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0008774 2-aminoadipic 2-oxoadipic aciduria '2-aminoadipic 2-oxoadipic aciduria' SubClassOf 'inborn disorder of lysine and hydroxylysine metabolism' http://purl.obolibrary.org/obo/MONDO_0008788 IRIDA syndrome 'IRIDA syndrome' SubClassOf 'inherited deficiency anemia' 'IRIDA syndrome' SubClassOf 'microcytic anemia' http://purl.obolibrary.org/obo/MONDO_0008787 microcytic anemia with liver iron overload 'microcytic anemia with liver iron overload' SubClassOf 'disorder of iron metabolism and transport' 'microcytic anemia with liver iron overload' SubClassOf 'anemia, hypochromic microcytic with iron overload' 'microcytic anemia with liver iron overload' SubClassOf 'inherited deficiency anemia' http://purl.obolibrary.org/obo/MONDO_0008783 Tangier disease 'Tangier disease' SubClassOf 'neurometabolic disease' 'Tangier disease' SubClassOf 'genetic peripheral neuropathy' 'Tangier disease' SubClassOf 'hypoalphalipoproteinemia' 'Tangier disease' SubClassOf 'hypolipoproteinemia' http://purl.obolibrary.org/obo/MONDO_0018106 hereditary xanthinuria 'hereditary xanthinuria' SubClassOf 'inborn disorder of purine metabolism' 'hereditary xanthinuria' SubClassOf 'xanthinuria' 'hereditary xanthinuria' SubClassOf 'nephropathy secondary to a storage or other metabolic disease' 'hereditary xanthinuria' EquivalentTo 'xanthinuria' and ('has modifier' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0018105 Wolfram syndrome 'Wolfram syndrome' SubClassOf 'syndromic hereditary optic neuropathy' 'Wolfram syndrome' SubClassOf 'disease has feature' some 'type 1 diabetes mellitus' 'Wolfram syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0018102 corneal dystrophy 'corneal dystrophy' SubClassOf 'has modifier' some 'rare' 'corneal dystrophy' SubClassOf 'corneal disease' http://purl.obolibrary.org/obo/MONDO_0018101 familial primary hypomagnesemia with normocalciuria and normocalcemia 'familial primary hypomagnesemia with normocalciuria and normocalcemia' SubClassOf 'familial primary hypomagnesemia with normocalcuria' http://purl.obolibrary.org/obo/MONDO_0018100 familial primary hypomagnesemia 'familial primary hypomagnesemia' SubClassOf 'inherited renal tubular disease' 'familial primary hypomagnesemia' SubClassOf 'inborn metal metabolism disorder' 'familial primary hypomagnesemia' SubClassOf 'disorder of magnesium transport' http://purl.obolibrary.org/obo/MONDO_0008799 anophthalmia/microphthalmia-esophageal atresia syndrome 'anophthalmia/microphthalmia-esophageal atresia syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'anophthalmia/microphthalmia-esophageal atresia syndrome' SubClassOf 'syndromic microphthalmia' 'anophthalmia/microphthalmia-esophageal atresia syndrome' SubClassOf 'syndromic esophageal malformation' 'anophthalmia/microphthalmia-esophageal atresia syndrome' SubClassOf 'non-acquired combined pituitary hormone deficiency' http://purl.obolibrary.org/obo/MONDO_0008798 nonsyndromic congenital nail disorder 4 'nonsyndromic congenital nail disorder 4' SubClassOf 'isolated congenital anonychia' http://purl.obolibrary.org/obo/MONDO_0008797 anodontia 'anodontia' SubClassOf 'genetic disorder' 'anodontia' SubClassOf 'tooth disease' http://purl.obolibrary.org/obo/MONDO_0008796 aniridia-renal agenesis-psychomotor retardation syndrome 'aniridia-renal agenesis-psychomotor retardation syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'aniridia-renal agenesis-psychomotor retardation syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'aniridia-renal agenesis-psychomotor retardation syndrome' SubClassOf 'syndromic urogenital tract malformation' 'aniridia-renal agenesis-psychomotor retardation syndrome' SubClassOf 'congenital nervous system disorder' 'aniridia-renal agenesis-psychomotor retardation syndrome' SubClassOf 'syndromic intellectual disability' 'aniridia-renal agenesis-psychomotor retardation syndrome' SubClassOf 'syndromic aniridia' 'aniridia-renal agenesis-psychomotor retardation syndrome' SubClassOf 'genetic nervous system disorder' 'aniridia-renal agenesis-psychomotor retardation syndrome' SubClassOf 'syndromic renal or urinary tract malformation' http://purl.obolibrary.org/obo/MONDO_0008795 aniridia-cerebellar ataxia-intellectual disability syndrome 'aniridia-cerebellar ataxia-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'aniridia-cerebellar ataxia-intellectual disability syndrome' SubClassOf 'genetic nervous system disorder' 'aniridia-cerebellar ataxia-intellectual disability syndrome' SubClassOf 'syndromic aniridia' http://purl.obolibrary.org/obo/MONDO_0008792 familial angiolipomatosis 'familial angiolipomatosis' SubClassOf 'has modifier' some 'rare' 'familial angiolipomatosis' SubClassOf 'subcutaneous tissue disorder' http://purl.obolibrary.org/obo/MONDO_0008791 anencephaly 1 'anencephaly 1' SubClassOf 'neural tube closure defect' 'anencephaly 1' SubClassOf 'anencephaly' 'anencephaly 1' SubClassOf 'syndromic intellectual disability' 'anencephaly 1' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'anencephaly 1' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0018117 disorder of phospholipids, sphingolipids and fatty acids biosynthesis 'disorder of phospholipids, sphingolipids and fatty acids biosynthesis' SubClassOf 'inherited lipid metabolism disorder' http://purl.obolibrary.org/obo/MONDO_0018116 galactosemia 'galactosemia' SubClassOf 'nephropathy secondary to a storage or other metabolic disease' 'galactosemia' SubClassOf 'disease has feature' some 'metabolic disease' 'galactosemia' SubClassOf 'syndromic cataract' 'galactosemia' SubClassOf 'disorder of galactose metabolism' http://purl.obolibrary.org/obo/MONDO_0018113 isolated plagiocephaly 'isolated plagiocephaly' SubClassOf 'neuro-ophthalmological disease' 'isolated plagiocephaly' SubClassOf 'isolated craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0018112 isolated scaphocephaly 'isolated scaphocephaly' SubClassOf 'isolated craniosynostosis' 'isolated scaphocephaly' SubClassOf 'neuro-ophthalmological disease' http://purl.obolibrary.org/obo/MONDO_0018115 epidermal nevus syndrome 'epidermal nevus syndrome' SubClassOf 'melanocytic nevus' 'epidermal nevus syndrome' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018114 isolated brachycephaly 'isolated brachycephaly' SubClassOf 'isolated craniosynostosis' 'isolated brachycephaly' SubClassOf 'neuro-ophthalmological disease' http://purl.obolibrary.org/obo/MONDO_0018128 phalangeal microgeodic syndrome 'phalangeal microgeodic syndrome' SubClassOf 'primary osteolysis' http://purl.obolibrary.org/obo/MONDO_0018127 16q24.1 microdeletion syndrome '16q24.1 microdeletion syndrome' SubClassOf 'respiratory system disease' '16q24.1 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 16' http://purl.obolibrary.org/obo/MONDO_0018129 autosomal recessive cerebellar ataxia with late-onset spasticity 'autosomal recessive cerebellar ataxia with late-onset spasticity' SubClassOf 'autosomal recessive metabolic cerebellar ataxia' 'autosomal recessive cerebellar ataxia with late-onset spasticity' SubClassOf 'sphingolipidosis' 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 genetic obesity' 'intellectual disability-obesity-brain malformations-facial dysmorphism syndrome' SubClassOf 'genetic nervous system disorder' 'intellectual disability-obesity-brain malformations-facial dysmorphism syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0018126 progressive myoclonic epilepsy with dystonia 'progressive myoclonic epilepsy with dystonia' SubClassOf 'infantile epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0018125 focal epilepsy-intellectual disability-cerebro-cerebellar malformation 'focal epilepsy-intellectual disability-cerebro-cerebellar malformation' SubClassOf 'monogenic epilepsy' http://purl.obolibrary.org/obo/MONDO_0018122 digital anomalies-intellectual disability-short stature syndrome 'digital anomalies-intellectual disability-short stature syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0018121 mitochondrial DNA maintenance syndrome 'mitochondrial DNA maintenance syndrome' SubClassOf 'mitochondrial oxidative phosphorylation disorder' http://purl.obolibrary.org/obo/MONDO_0018138 ocular albinism with congenital sensorineural hearing loss 'ocular albinism with congenital sensorineural hearing loss' SubClassOf 'ocular albinism' 'ocular albinism with congenital sensorineural hearing loss' SubClassOf 'developmental anomaly of metabolic origin' 'ocular albinism with congenital sensorineural hearing loss' SubClassOf 'Waardenburg syndrome' http://purl.obolibrary.org/obo/MONDO_0018135 oculocutaneous albinism type 1 'oculocutaneous albinism type 1' SubClassOf 'oculocutaneous albinism' http://purl.obolibrary.org/obo/MONDO_0018134 disorder of melanin metabolism 'disorder of melanin metabolism' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' http://purl.obolibrary.org/obo/MONDO_0018137 temperature-sensitive oculocutaneous albinism type 1 'temperature-sensitive oculocutaneous albinism type 1' SubClassOf 'oculocutaneous albinism type 1' http://purl.obolibrary.org/obo/MONDO_0018136 minimal pigment oculocutaneous albinism type 1 'minimal pigment oculocutaneous albinism type 1' SubClassOf 'oculocutaneous albinism type 1' http://purl.obolibrary.org/obo/MONDO_0018131 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion 'neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion' SubClassOf 'neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome' 'neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion' SubClassOf 'partial monosomy of the long arm of chromosome 9' http://purl.obolibrary.org/obo/MONDO_0018130 brain dopamine-serotonin vesicular transport disease 'brain dopamine-serotonin vesicular transport disease' SubClassOf 'inborn disorder of neurotransmitter metabolism and transport' http://purl.obolibrary.org/obo/MONDO_0018133 attenuated Chédiak-Higashi syndrome 'attenuated Chédiak-Higashi syndrome' SubClassOf 'inherited neurodegenerative disorder' 'attenuated Chédiak-Higashi syndrome' SubClassOf 'genetic peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0018151 coenzyme Q10 deficiency 'coenzyme Q10 deficiency' SubClassOf 'mitochondrial oxidative phosphorylation disorder' 'coenzyme Q10 deficiency' SubClassOf 'genetic peripheral neuropathy' 'coenzyme Q10 deficiency' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0018150 Gaucher disease 'Gaucher disease' SubClassOf 'sphingolipidosis' 'Gaucher disease' SubClassOf 'has modifier' some 'rare' 'Gaucher disease' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0018149 GM1 gangliosidosis 'GM1 gangliosidosis' SubClassOf 'bone disease' 'GM1 gangliosidosis' SubClassOf 'neurometabolic disease' 'GM1 gangliosidosis' SubClassOf 'neuro-ophthalmological disease' 'GM1 gangliosidosis' SubClassOf 'gangliosidosis' http://purl.obolibrary.org/obo/MONDO_0018142 pyruvate carboxylase deficiency, severe neonatal type 'pyruvate carboxylase deficiency, severe neonatal type' SubClassOf 'pyruvate carboxylase deficiency disease' http://purl.obolibrary.org/obo/MONDO_0018141 pyruvate carboxylase deficiency, infantile form 'pyruvate carboxylase deficiency, infantile form' SubClassOf 'pyruvate carboxylase deficiency disease' http://purl.obolibrary.org/obo/MONDO_0018144 congenital myasthenic syndromes with glycosylation defect 'congenital myasthenic syndromes with glycosylation defect' SubClassOf 'congenital myasthenic syndrome' 'congenital myasthenic syndromes with glycosylation defect' SubClassOf 'congenital nervous system disorder' 'congenital myasthenic syndromes with glycosylation defect' SubClassOf 'disorder of protein N-glycosylation' 'congenital myasthenic syndromes with glycosylation defect' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0018143 pyruvate carboxylase deficiency, benign type 'pyruvate carboxylase deficiency, benign type' SubClassOf 'pyruvate carboxylase deficiency disease' http://purl.obolibrary.org/obo/MONDO_0018160 hereditary retinoblastoma 'hereditary retinoblastoma' SubClassOf 'genetic nervous system disorder' 'hereditary retinoblastoma' SubClassOf 'retinoblastoma' 'hereditary retinoblastoma' SubClassOf 'hereditary neoplastic syndrome' 'hereditary retinoblastoma' EquivalentTo 'retinoblastoma' and ('has modifier' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0018162 neurometabolic disorder due to serine deficiency 'neurometabolic disorder due to serine deficiency' SubClassOf 'neurometabolic disease' 'neurometabolic disorder due to serine deficiency' SubClassOf 'inborn serine deficiency' 'neurometabolic disorder due to serine deficiency' SubClassOf 'cerebral organic aciduria' http://purl.obolibrary.org/obo/MONDO_0018156 3q26q27 microdeletion syndrome '3q26q27 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 3' http://purl.obolibrary.org/obo/MONDO_0018159 atypical hemolytic-uremic syndrome with DGKE deficiency 'atypical hemolytic-uremic syndrome with DGKE deficiency' SubClassOf 'atypical hemolytic-uremic syndrome' http://purl.obolibrary.org/obo/MONDO_0018158 mitochondrial DNA depletion syndrome 'mitochondrial DNA depletion syndrome' SubClassOf 'mitochondrial oxidative phosphorylation disorder' http://purl.obolibrary.org/obo/MONDO_0018155 lateral sclerosis 'lateral sclerosis' SubClassOf 'hereditary motor neuron disease' http://purl.obolibrary.org/obo/MONDO_0018154 Madelung deformity 'Madelung deformity' SubClassOf 'Leri-Weill dyschondrosteosis' 'Madelung deformity' SubClassOf 'joint formation defects' 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 'has modifier' some 'rare' 'primary non-essential cutis verticis gyrata' SubClassOf 'primary cutis verticis gyrata' http://purl.obolibrary.org/obo/MONDO_0018169 morning glory syndrome 'morning glory syndrome' SubClassOf 'coloboma of optic nerve' 'morning glory syndrome' SubClassOf 'hereditary optic neuropathy' 'morning glory syndrome' SubClassOf 'developmental defect of the eye' http://purl.obolibrary.org/obo/MONDO_0018163 autosomal recessive cutis laxa type 2A 'autosomal recessive cutis laxa type 2A' SubClassOf 'cerebral organic aciduria' 'autosomal recessive cutis laxa type 2A' SubClassOf 'autosomal recessive cutis laxa type 2' 'autosomal recessive cutis laxa type 2A' SubClassOf 'congenital disorder of glycosylation-related bone disorder' 'autosomal recessive cutis laxa type 2A' SubClassOf 'defect in V-ATPase' 'autosomal recessive cutis laxa type 2A' SubClassOf 'congenital nervous system disorder' 'autosomal recessive cutis laxa type 2A' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0018175 combined deficiency of factor V and factor VIII 'combined deficiency of factor V and factor VIII' SubClassOf 'coagulation protein disease' 'combined deficiency of factor V and factor VIII' SubClassOf 'hemorrhagic disease' http://purl.obolibrary.org/obo/MONDO_0018174 hereditary glaucoma 'hereditary glaucoma' EquivalentTo 'glaucoma' and ('has modifier' some 'inherited') 'hereditary glaucoma' SubClassOf 'genetic disorder' 'hereditary glaucoma' SubClassOf 'glaucoma' http://purl.obolibrary.org/obo/MONDO_0018190 autosomal dominant childhood-onset proximal spinal muscular atrophy 'autosomal dominant childhood-onset proximal spinal muscular atrophy' SubClassOf 'autosomal dominant proximal spinal muscular atrophy' http://purl.obolibrary.org/obo/MONDO_0018189 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome 'autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome' SubClassOf 'autosomal recessive metabolic cerebellar ataxia' 'autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome' SubClassOf 'inborn disorder of amino acid absorption and transport' http://purl.obolibrary.org/obo/MONDO_0031169 odontochondrodysplasia 'odontochondrodysplasia' SubClassOf 'spondylometaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0018186 obsolete ring chromosome 'obsolete ring chromosome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0018185 congenital anomaly of the great veins 'congenital anomaly of the great veins' SubClassOf 'congenital heart malformation' 'congenital anomaly of the great veins' SubClassOf 'genetic vascular anomaly' 'congenital anomaly of the great veins' SubClassOf 'vascular anomaly' http://purl.obolibrary.org/obo/MONDO_0018188 genetic intestinal polyposis 'genetic intestinal polyposis' SubClassOf 'has modifier' some 'rare' 'genetic intestinal polyposis' SubClassOf 'genetic disorder' 'genetic intestinal polyposis' SubClassOf 'intestinal disease' 'genetic intestinal polyposis' SubClassOf 'polyposis' http://purl.obolibrary.org/obo/MONDO_0018187 genetic syndromic Pierre Robin syndrome 'genetic syndromic Pierre Robin syndrome' SubClassOf 'disorder of development or morphogenesis' 'genetic syndromic Pierre Robin syndrome' SubClassOf 'otorhinolaryngologic disease' http://purl.obolibrary.org/obo/MONDO_0018197 mitochondrial DNA depletion syndrome, hepatocerebrorenal form 'mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf 'neurometabolic disease' 'mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf 'inherited renal tubular disease' 'mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf 'mitochondrial DNA depletion syndrome, hepatocerebral form' http://purl.obolibrary.org/obo/EFO_0011022 BRCA2 mutation carier statu 'BRCA2 mutation carier statu' SubClassOf 'is_about' some 'breast cancer' 'BRCA2 mutation carier statu' SubClassOf 'is_about' some 'ovarian cancer' 'BRCA2 mutation carier statu' SubClassOf 'carrier status' http://purl.obolibrary.org/obo/MONDO_0008607 triphalangeal thumbs-brachyectrodactyly syndrome 'triphalangeal thumbs-brachyectrodactyly syndrome' SubClassOf 'congenital limb malformation' http://purl.obolibrary.org/obo/MONDO_0008606 Say-field-Coldwell syndrome 'Say-field-Coldwell syndrome' SubClassOf 'congenital limb malformation' http://purl.obolibrary.org/obo/MONDO_0008619 ulna metaphyseal dysplasia syndrome 'ulna metaphyseal dysplasia syndrome' SubClassOf 'multiple metaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0008618 mesomelic dwarfism, Reinhardt-Pfeiffer type 'mesomelic dwarfism, Reinhardt-Pfeiffer type' SubClassOf 'mesomelic and rhizo-mesomelic dysplasia' http://purl.obolibrary.org/obo/MONDO_0008611 humerus trochlea aplasia 'humerus trochlea aplasia' SubClassOf 'dysostosis of genetic origin' 'humerus trochlea aplasia' SubClassOf 'congenital limb malformation' http://purl.obolibrary.org/obo/MONDO_0008610 blue color blindness 'blue color blindness' SubClassOf 'color vision disorder' 'blue color blindness' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0008624 Upington disease 'Upington disease' SubClassOf 'genetic disorder' 'Upington disease' SubClassOf 'musculoskeletal system disease' http://purl.obolibrary.org/obo/MONDO_0008622 tricho-retino-dento-digital syndrome 'tricho-retino-dento-digital syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0008621 uncombable hair syndrome 'uncombable hair syndrome' SubClassOf 'isolated genetic hair shaft abnormality' http://purl.obolibrary.org/obo/MONDO_0008620 upper limb mesomelic dysplasia 'upper limb mesomelic dysplasia' SubClassOf 'mesomelic and rhizo-mesomelic dysplasia' http://purl.obolibrary.org/obo/MONDO_0008636 double uterus-hemivagina-renal agenesis syndrome 'double uterus-hemivagina-renal agenesis syndrome' SubClassOf 'syndromic renal or urinary tract malformation' 'double uterus-hemivagina-renal agenesis syndrome' SubClassOf 'syndromic urogenital tract malformation' 'double uterus-hemivagina-renal agenesis syndrome' SubClassOf 'syndromic uterovaginal malformation' http://purl.obolibrary.org/obo/MONDO_0008633 Muckle-Wells syndrome 'Muckle-Wells syndrome' SubClassOf 'secondary glomerular disease' 'Muckle-Wells syndrome' SubClassOf 'autosomal dominant disease' 'Muckle-Wells syndrome' SubClassOf 'cryopyrin-associated periodic syndrome' http://purl.obolibrary.org/obo/MONDO_0008645 ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome 'ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome' SubClassOf 'orofacial clefting syndrome' http://purl.obolibrary.org/obo/MONDO_0008642 VACTERL/vater association 'VACTERL/vater association' SubClassOf 'syndromic urogenital tract malformation' 'VACTERL/vater association' SubClassOf 'syndromic renal or urinary tract malformation' 'VACTERL/vater association' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'VACTERL/vater association' SubClassOf 'syndromic anorectal malformation' 'VACTERL/vater association' SubClassOf 'syndromic esophageal malformation' http://purl.obolibrary.org/obo/MONDO_0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 'retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations' SubClassOf 'hereditary disorder of connective tissue' 'retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations' SubClassOf 'disease of glomerular basement membrane' 'retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations' SubClassOf 'inherited retinal dystrophy' 'retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations' SubClassOf 'type 1 interferonopathy' 'retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations' SubClassOf 'disease has feature' some 'inherited retinal dystrophy' 'retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations' SubClassOf 'retinal vascular disorder' 'retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations' SubClassOf 'cerebral small vessel disease' http://purl.obolibrary.org/obo/MONDO_0008659 transcobalamin I deficiency 'transcobalamin I deficiency' SubClassOf 'inborn disorder of cobalamin metabolism and transport' http://purl.obolibrary.org/obo/MONDO_0008652 congenital vertical talus 'congenital vertical talus' SubClassOf 'genetic disorder' 'congenital vertical talus' SubClassOf 'congenital deformities of limbs' http://purl.obolibrary.org/obo/MONDO_0008650 posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome 'posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome' SubClassOf 'syndromic disease' 'posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008668 von Willebrand disease 1 'von Willebrand disease 1' SubClassOf 'hereditary von Willebrand disease' http://purl.obolibrary.org/obo/MONDO_0008667 von Hippel-Lindau disease 'von Hippel-Lindau disease' SubClassOf 'eye disease' 'von Hippel-Lindau disease' SubClassOf 'genetic central nervous system and retinal vascular disease' 'von Hippel-Lindau disease' SubClassOf 'inherited renal cancer-predisposing syndrome' 'von Hippel-Lindau disease' SubClassOf 'developmental defect during embryogenesis' 'von Hippel-Lindau disease' SubClassOf 'multiple polyglandular tumor' 'von Hippel-Lindau disease' SubClassOf 'familial cystic renal disease' 'von Hippel-Lindau disease' SubClassOf 'neurocutaneous syndrome' 'von Hippel-Lindau disease' SubClassOf 'inherited nervous system cancer-predisposing syndrome' http://purl.obolibrary.org/obo/MONDO_0008665 ptosis-vocal cord paralysis syndrome 'ptosis-vocal cord paralysis syndrome' SubClassOf 'eyelids malposition disorder' http://purl.obolibrary.org/obo/MONDO_0008664 obsolete autosomal dominant neovascular inflammatory vitreoretinopathy 'obsolete autosomal dominant neovascular inflammatory vitreoretinopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0008663 snowflake vitreoretinal degeneration 'snowflake vitreoretinal degeneration' SubClassOf 'vitreoretinal degeneration' http://purl.obolibrary.org/obo/MONDO_0008662 autosomal dominant vitreoretinochoroidopathy 'autosomal dominant vitreoretinochoroidopathy' SubClassOf 'vitreoretinal degeneration' http://purl.obolibrary.org/obo/MONDO_0008660 autosomal dominant hypophosphatemic rickets 'autosomal dominant hypophosphatemic rickets' SubClassOf 'autosomal dominant disease' 'autosomal dominant hypophosphatemic rickets' SubClassOf 'hereditary hypophosphatemic rickets' http://purl.obolibrary.org/obo/MONDO_0008678 Williams syndrome 'Williams syndrome' SubClassOf 'neurovascular disorder' 'Williams syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Williams syndrome' SubClassOf 'neurodevelopmental disorder' 'Williams syndrome' SubClassOf 'disease has feature' some 'supravalvular aortic stenosis' 'Williams syndrome' SubClassOf 'partial deletion of the long arm of chromosome 7' 'Williams syndrome' SubClassOf 'genetic hypertension' 'Williams syndrome' SubClassOf 'motor stereotypies' 'Williams syndrome' SubClassOf 'congenital nervous system disorder' 'Williams syndrome' SubClassOf 'syndromic epicanthus' 'Williams syndrome' SubClassOf 'heart disease' 'Williams syndrome' SubClassOf 'genetic nervous system disorder' 'Williams syndrome' SubClassOf 'syndromic intellectual disability' 'Williams syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0008676 white sponge nevus 1 'white sponge nevus 1' SubClassOf 'hereditary mucosal leukokeratosis' http://purl.obolibrary.org/obo/MONDO_0008675 freeman-Sheldon syndrome 'freeman-Sheldon syndrome' SubClassOf 'arthrogryposis' 'freeman-Sheldon syndrome' SubClassOf 'congenital nervous system disorder' 'freeman-Sheldon syndrome' SubClassOf 'syndromic disease' 'freeman-Sheldon syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'freeman-Sheldon syndrome' SubClassOf 'distal arthrogryposis' http://purl.obolibrary.org/obo/MONDO_0008673 acrofacial dysostosis, Weyers type 'acrofacial dysostosis, Weyers type' SubClassOf 'ectodermal dysplasia syndrome' 'acrofacial dysostosis, Weyers type' SubClassOf 'acrofacial dysostosis' 'acrofacial dysostosis, Weyers type' SubClassOf 'branchial arch or oral-acral syndrome' 'acrofacial dysostosis, Weyers type' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008670 Waardenburg syndrome type 1 'Waardenburg syndrome type 1' SubClassOf 'Waardenburg syndrome' http://purl.obolibrary.org/obo/MONDO_0008688 WT limb-blood syndrome 'WT limb-blood syndrome' SubClassOf 'inherited aplastic anemia' http://purl.obolibrary.org/obo/MONDO_0008686 isolated familial woolly hair disorder 'isolated familial woolly hair disorder' SubClassOf 'isolated genetic hair shaft abnormality' http://purl.obolibrary.org/obo/MONDO_0008684 Wolf-Hirschhorn syndrome 'Wolf-Hirschhorn syndrome' SubClassOf 'syndromic intellectual disability' 'Wolf-Hirschhorn syndrome' SubClassOf 'disease has feature' some 'syndromic genetic hearing loss' 'Wolf-Hirschhorn syndrome' SubClassOf 'syndromic diaphragmatic or abdominal wall malformation' 'Wolf-Hirschhorn syndrome' SubClassOf 'chromosome 4 short arm deletion' 'Wolf-Hirschhorn syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Wolf-Hirschhorn syndrome' SubClassOf 'syndromic diaphragmatic or thoracic malformation' 'Wolf-Hirschhorn syndrome' SubClassOf 'disease has feature' some 'epilepsy' 'Wolf-Hirschhorn syndrome' SubClassOf 'epilepsy' 'Wolf-Hirschhorn syndrome' SubClassOf 'congenital nervous system disorder' 'Wolf-Hirschhorn syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Wolf-Hirschhorn syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0008682 Denys-Drash syndrome 'Denys-Drash syndrome' SubClassOf 'autosomal dominant disease' 'Denys-Drash syndrome' SubClassOf 'primary glomerular disease' 'Denys-Drash syndrome' SubClassOf '46,XY disorder of sex development' http://purl.obolibrary.org/obo/MONDO_0008681 WAGR syndrome 'WAGR syndrome' SubClassOf 'syndromic urogenital tract malformation' 'WAGR syndrome' SubClassOf 'syndromic renal or urinary tract malformation' 'WAGR syndrome' SubClassOf 'syndromic genetic obesity' 'WAGR syndrome' SubClassOf '46,XY disorder of sex development' 'WAGR syndrome' SubClassOf 'inherited renal cancer-predisposing syndrome' 'WAGR syndrome' SubClassOf 'partial deletion of the short arm of chromosome 11' 'WAGR syndrome' SubClassOf 'syndromic aniridia' http://purl.obolibrary.org/obo/MONDO_0018007 mosaic genome-wide paternal uniparental disomy 'mosaic genome-wide paternal uniparental disomy' SubClassOf 'uniparental disomy' 'mosaic genome-wide paternal uniparental disomy' SubClassOf 'has modifier' some 'mosaic' http://purl.obolibrary.org/obo/MONDO_0018006 adult-onset distal myopathy due to VCP mutation 'adult-onset distal myopathy due to VCP mutation' SubClassOf 'autosomal dominant distal myopathy' http://purl.obolibrary.org/obo/MONDO_0018002 adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy 'adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' SubClassOf 'syndromic genetic hearing loss' 'adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' SubClassOf 'mitochondrial oxidative phosphorylation disorder' 'adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' SubClassOf 'neurometabolic disease' 'adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' SubClassOf 'inborn mitochondrial myopathy' http://purl.obolibrary.org/obo/MONDO_0018005 spastic paraplegia-Paget disease of bone syndrome 'spastic paraplegia-Paget disease of bone syndrome' SubClassOf 'autosomal dominant complex spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0018001 inverse Klippel-Trenaunay syndrome 'inverse Klippel-Trenaunay syndrome' SubClassOf 'vascular bone neoplasm' 'inverse Klippel-Trenaunay syndrome' SubClassOf 'congenital vascular bone syndrome' http://purl.obolibrary.org/obo/MONDO_0018000 hereditary thrombocytosis with transverse limb defect 'hereditary thrombocytosis with transverse limb defect' SubClassOf 'congenital limb malformation' 'hereditary thrombocytosis with transverse limb defect' SubClassOf 'dysostosis of genetic origin' 'hereditary thrombocytosis with transverse limb defect' SubClassOf 'congenital hematological disorder' 'hereditary thrombocytosis with transverse limb defect' SubClassOf 'inherited blood coagulation disorder' http://purl.obolibrary.org/obo/MONDO_0008699 achalasia microcephaly syndrome 'achalasia microcephaly syndrome' SubClassOf 'syndromic esophageal malformation' 'achalasia microcephaly syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0006037 hydrolethalus syndrome 'hydrolethalus syndrome' SubClassOf 'orofacial clefting syndrome' 'hydrolethalus syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'hydrolethalus syndrome' SubClassOf 'autosomal recessive disease' 'hydrolethalus syndrome' SubClassOf 'genetic nervous system disorder' 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' 'acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome' SubClassOf 'acanthosis nigricans' 'acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome' SubClassOf 'epidermal disease' http://purl.obolibrary.org/obo/MONDO_0008695 chorea-acanthocytosis 'chorea-acanthocytosis' SubClassOf 'genetic skin disease' 'chorea-acanthocytosis' SubClassOf 'genetic peripheral neuropathy' 'chorea-acanthocytosis' SubClassOf 'neuroacanthocytosis' 'chorea-acanthocytosis' SubClassOf 'neurometabolic disease' 'chorea-acanthocytosis' SubClassOf 'epidermal disease' http://purl.obolibrary.org/obo/MONDO_0008694 pseudoprogeria syndrome 'pseudoprogeria syndrome' SubClassOf 'congenital nervous system disorder' 'pseudoprogeria syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'pseudoprogeria syndrome' SubClassOf 'syndromic intellectual disability' 'pseudoprogeria syndrome' SubClassOf 'progeroid syndrome' http://purl.obolibrary.org/obo/MONDO_0008693 ablepharon macrostomia syndrome 'ablepharon macrostomia syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'ablepharon macrostomia syndrome' SubClassOf 'orofacial clefting syndrome' 'ablepharon macrostomia syndrome' SubClassOf 'microblepharon-ablephara syndrome' 'ablepharon macrostomia syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0008692 abetalipoproteinemia 'abetalipoproteinemia' SubClassOf 'hypobetalipoproteinemia' 'abetalipoproteinemia' SubClassOf 'familial hemolytic anemia' 'abetalipoproteinemia' SubClassOf 'autosomal recessive metabolic cerebellar ataxia' 'abetalipoproteinemia' SubClassOf 'genetic peripheral neuropathy' 'abetalipoproteinemia' SubClassOf 'neurometabolic disease' 'abetalipoproteinemia' SubClassOf 'intestinal disease due to fat malabsorption' http://purl.obolibrary.org/obo/MONDO_0018014 transient neonatal multiple acyl-CoA dehydrogenase deficiency 'transient neonatal multiple acyl-CoA dehydrogenase deficiency' SubClassOf 'acyl-CoA dehydrogenase deficiency' http://purl.obolibrary.org/obo/MONDO_0018013 non-immunoglobulin-mediated membranoproliferative glomerulonephritis 'non-immunoglobulin-mediated membranoproliferative glomerulonephritis' SubClassOf 'primary membranoproliferative glomerulonephritis' http://purl.obolibrary.org/obo/MONDO_0018015 intermittent hydrarthrosis 'intermittent hydrarthrosis' SubClassOf 'has modifier' some 'rare' 'intermittent hydrarthrosis' SubClassOf 'rheumatic disease' http://purl.obolibrary.org/obo/MONDO_0018030 tetrasomy 9p 'tetrasomy 9p' SubClassOf 'syndrome caused by partial chromosomal duplication of the short arm of chromosome 9' http://purl.obolibrary.org/obo/MONDO_0018029 congenital factor XIII deficiency 'congenital factor XIII deficiency' SubClassOf 'congenital hematological disorder' 'congenital factor XIII deficiency' SubClassOf 'hemorrhagic disease' 'congenital factor XIII deficiency' SubClassOf 'factor XIII deficiency' http://purl.obolibrary.org/obo/MONDO_0018028 tetrasomy 5p 'tetrasomy 5p' SubClassOf 'partial trisomy/tetrasomy of the short arm of chromosome 5' http://purl.obolibrary.org/obo/MONDO_0018027 duplication/inversion 15q11 'duplication/inversion 15q11' SubClassOf 'has modifier' some 'rare' 'duplication/inversion 15q11' SubClassOf 'epilepsy' http://purl.obolibrary.org/obo/MONDO_0018026 tetraploidy syndrome 'tetraploidy syndrome' SubClassOf 'polyploidy' http://purl.obolibrary.org/obo/MONDO_0018021 hypotrichosis-deafness syndrome 'hypotrichosis-deafness syndrome' SubClassOf 'erythrokeratoderma variabilis progressiva' 'hypotrichosis-deafness syndrome' SubClassOf 'syndromic nail anomaly' 'hypotrichosis-deafness syndrome' SubClassOf 'genetic alopecia' 'hypotrichosis-deafness syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0018023 hemoglobin M disease 'hemoglobin M disease' SubClassOf 'hereditary methemoglobinemia' http://purl.obolibrary.org/obo/MONDO_0018022 hemoglobin Lepore-beta-thalassemia syndrome 'hemoglobin Lepore-beta-thalassemia syndrome' SubClassOf 'beta-thalassemia and related diseases' http://purl.obolibrary.org/obo/MONDO_0006058 Wilms tumor 'Wilms tumor' SubClassOf 'Malignant Mixed Neoplasm' 'Wilms tumor' SubClassOf 'embryonal neoplasm' http://purl.obolibrary.org/obo/MONDO_0018039 selective IgM deficiency 'selective IgM deficiency' SubClassOf 'dysgammaglobulinemia' 'selective IgM deficiency' SubClassOf 'immunodeficiency predominantly affecting antibody production' http://purl.obolibrary.org/obo/MONDO_0018035 obsolete syndrome with combined immunodeficiency 'obsolete syndrome with combined immunodeficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0018037 hyper-IgE syndrome 'hyper-IgE syndrome' SubClassOf 'hyperimmunoglobulin syndrome' 'hyper-IgE syndrome' SubClassOf 'primary immunodeficiency due to a defect in adaptive immunity' http://purl.obolibrary.org/obo/MONDO_0018050 tibial aplasia-ectrodactyly syndrome 'tibial aplasia-ectrodactyly syndrome' SubClassOf 'congenital limb malformation' 'tibial aplasia-ectrodactyly syndrome' SubClassOf 'dysostosis of genetic origin' 'tibial aplasia-ectrodactyly syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'tibial aplasia-ectrodactyly syndrome' SubClassOf 'orofacial clefting syndrome' http://purl.obolibrary.org/obo/MONDO_0018052 hypoplastic tibiae-postaxial polydactyly syndrome 'hypoplastic tibiae-postaxial polydactyly syndrome' SubClassOf 'tibia, hypoplasia or aplasia of, with polydactyly' 'hypoplastic tibiae-postaxial polydactyly syndrome' SubClassOf 'dysostosis of genetic origin' 'hypoplastic tibiae-postaxial polydactyly syndrome' SubClassOf 'congenital limb malformation' http://purl.obolibrary.org/obo/MONDO_0018047 familial thrombomodulin anomalies 'familial thrombomodulin anomalies' SubClassOf 'inherited blood coagulation disorder' http://purl.obolibrary.org/obo/MONDO_0018046 thrombocytopenia-robin sequence syndrome 'thrombocytopenia-robin sequence syndrome' SubClassOf 'orofacial clefting syndrome' http://purl.obolibrary.org/obo/MONDO_0018043 Thomas syndrome 'Thomas syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'Thomas syndrome' SubClassOf 'syndromic renal or urinary tract malformation' 'Thomas syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Thomas syndrome' SubClassOf 'orofacial clefting syndrome' 'Thomas syndrome' SubClassOf 'heart disease' http://purl.obolibrary.org/obo/MONDO_0018045 Hoyeraal-Hreidarsson syndrome 'Hoyeraal-Hreidarsson syndrome' SubClassOf 'dyskeratosis congenita, X-linked' 'Hoyeraal-Hreidarsson syndrome' SubClassOf 'genetic nervous system disorder' 'Hoyeraal-Hreidarsson syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Hoyeraal-Hreidarsson syndrome' SubClassOf 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0018061 trichodermodysplasia-dental alterations syndrome 'trichodermodysplasia-dental alterations syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0018060 congenital fibrinogen deficiency 'congenital fibrinogen deficiency' SubClassOf 'coagulation protein disease' 'congenital fibrinogen deficiency' SubClassOf 'hemorrhagic disease' http://purl.obolibrary.org/obo/MONDO_0018062 autosomal dominant trichoodontoonychodysplasia-syndactyly 'autosomal dominant trichoodontoonychodysplasia-syndactyly' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0018054 familial atrial fibrillation 'familial atrial fibrillation' SubClassOf 'genetic cardiac rhythm disease' 'familial atrial fibrillation' EquivalentTo 'atrial fibrillation' and ('has modifier' some 'inherited') 'familial atrial fibrillation' SubClassOf 'atrial fibrillation' http://purl.obolibrary.org/obo/MONDO_0018053 trichothiodystrophy 'trichothiodystrophy' SubClassOf 'male infertility' 'trichothiodystrophy' SubClassOf 'autosomal ichthyosis syndrome' 'trichothiodystrophy' SubClassOf 'ectodermal dysplasia syndrome' 'trichothiodystrophy' SubClassOf 'genetic infertility' 'trichothiodystrophy' SubClassOf 'syndromic hair shaft abnormality' http://purl.obolibrary.org/obo/MONDO_0018071 trisomy 18 'trisomy 18' SubClassOf 'syndromic diaphragmatic or abdominal wall malformation' 'trisomy 18' SubClassOf 'syndromic anorectal malformation' 'trisomy 18' SubClassOf 'chromosome 18 disorder' 'trisomy 18' SubClassOf 'syndromic urogenital tract malformation' 'trisomy 18' SubClassOf 'trisomy' 'trisomy 18' SubClassOf 'syndromic renal or urinary tract malformation' 'trisomy 18' SubClassOf 'total autosomal trisomy' http://purl.obolibrary.org/obo/MONDO_0018070 familial multiple fibrofolliculoma 'familial multiple fibrofolliculoma' SubClassOf 'inherited skin tumor' http://purl.obolibrary.org/obo/MONDO_0018069 distal trisomy 17q 'distal trisomy 17q' SubClassOf 'partial duplication of the long arm of chromosome 17' http://purl.obolibrary.org/obo/MONDO_0018068 trisomy 13 'trisomy 13' SubClassOf 'syndromic diaphragmatic or abdominal wall malformation' 'trisomy 13' SubClassOf 'trisomy' 'trisomy 13' SubClassOf 'total autosomal trisomy' 'trisomy 13' SubClassOf 'congenital vitreoretinal dysplasia' 'trisomy 13' SubClassOf 'neuro-ophthalmological disease' 'trisomy 13' SubClassOf 'syndromic renal or urinary tract malformation' 'trisomy 13' SubClassOf 'chromosome 13 disorder' 'trisomy 13' SubClassOf 'syndromic anorectal malformation' 'trisomy 13' SubClassOf 'syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0018065 isolated trigonocephaly 'isolated trigonocephaly' SubClassOf 'trigonocephaly' 'isolated trigonocephaly' EquivalentTo 'trigonocephaly' and ('has modifier' some 'has an isolated presentation') 'isolated trigonocephaly' SubClassOf 'isolated craniosynostosis' 'isolated trigonocephaly' SubClassOf 'neuro-ophthalmological disease' http://purl.obolibrary.org/obo/MONDO_0018064 trigonocephaly-broad thumbs syndrome 'trigonocephaly-broad thumbs syndrome' SubClassOf 'syndromic craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0018067 triploidy 'triploidy' SubClassOf 'syndromic genetic obesity' 'triploidy' SubClassOf 'polyploidy' http://purl.obolibrary.org/obo/MONDO_0018066 trisomy X 'trisomy X' SubClassOf 'inherited primary ovarian failure' 'trisomy X' SubClassOf 'syndromic disease' 'trisomy X' SubClassOf 'trisomy' 'trisomy X' SubClassOf 'chromosome X disorder' http://purl.obolibrary.org/obo/MONDO_0018083 transient tyrosinemia of the newborn 'transient tyrosinemia of the newborn' SubClassOf 'disorder of tyrosine metabolism' http://purl.obolibrary.org/obo/MONDO_0018085 umbilical cord ulceration-intestinal atresia syndrome 'umbilical cord ulceration-intestinal atresia syndrome' SubClassOf 'syndromic intestinal malformation' http://purl.obolibrary.org/obo/MONDO_0043005 genetic multiple congenital anomalies/dysmorphic syndrome 'genetic multiple congenital anomalies/dysmorphic syndrome' SubClassOf 'genetic disorder' 'genetic multiple congenital anomalies/dysmorphic syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome' 'genetic multiple congenital anomalies/dysmorphic syndrome' SubClassOf 'has modifier' some 'rare' 'genetic multiple congenital anomalies/dysmorphic syndrome' EquivalentTo 'multiple congenital anomalies/dysmorphic syndrome' and ('has modifier' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0043008 genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' EquivalentTo 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' and ('has modifier' some 'inherited') 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0031037 famililal cerebral cavernous malformations 'famililal cerebral cavernous malformations' SubClassOf 'neurovascular malformation' 'famililal cerebral cavernous malformations' EquivalentTo 'cerebral cavernous malformation' and ('has modifier' some 'inherited') 'famililal cerebral cavernous malformations' SubClassOf 'simple vascular malformation' 'famililal cerebral cavernous malformations' SubClassOf 'genetic central nervous system and retinal vascular disease' 'famililal cerebral cavernous malformations' SubClassOf 'genetic vascular anomaly' 'famililal cerebral cavernous malformations' SubClassOf 'cerebral cavernous malformation' http://purl.obolibrary.org/obo/MONDO_0018076 tuberculosis 'tuberculosis' SubClassOf 'mycobacterial infectious disease' 'tuberculosis' DisjointWith 'pulmonary non-tuberculous mycobacterial infection' 'tuberculosis' SubClassOf 'primary bacterial infectious disease' 'tuberculosis' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018075 neural tube defect 'neural tube defect' SubClassOf 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0018094 Waardenburg syndrome 'Waardenburg syndrome' SubClassOf 'congenital nervous system disorder' 'Waardenburg syndrome' SubClassOf 'genetic skin disease' 'Waardenburg syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Waardenburg syndrome' SubClassOf 'autosomal dominant disease' 'Waardenburg syndrome' SubClassOf 'syndromic genetic hearing loss' 'Waardenburg syndrome' SubClassOf 'neuro-ophthalmological disease' 'Waardenburg syndrome' SubClassOf 'hypopigmentation of the skin' http://purl.obolibrary.org/obo/MONDO_0018096 Weill-Marchesani syndrome 'Weill-Marchesani syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Weill-Marchesani syndrome' SubClassOf 'autosomal genetic disease' 'Weill-Marchesani syndrome' SubClassOf 'syndromic disease' 'Weill-Marchesani syndrome' SubClassOf 'acromelic dysplasia' http://purl.obolibrary.org/obo/MONDO_0018095 Weaver-Williams syndrome 'Weaver-Williams syndrome' SubClassOf 'syndromic intellectual disability' 'Weaver-Williams syndrome' SubClassOf 'orofacial clefting syndrome' 'Weaver-Williams syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Weaver-Williams syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0018092 Vogt-Koyanagi-Harada disease 'Vogt-Koyanagi-Harada disease' SubClassOf 'syndromic disease' 'Vogt-Koyanagi-Harada disease' SubClassOf 'panuveitis' http://purl.obolibrary.org/obo/MONDO_0018091 microcephaly-brachydactyly-kyphoscoliosis syndrome 'microcephaly-brachydactyly-kyphoscoliosis syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'microcephaly-brachydactyly-kyphoscoliosis syndrome' SubClassOf 'genetic nervous system disorder' 'microcephaly-brachydactyly-kyphoscoliosis syndrome' SubClassOf 'congenital nervous system disorder' 'microcephaly-brachydactyly-kyphoscoliosis syndrome' SubClassOf 'congenital limb malformation' 'microcephaly-brachydactyly-kyphoscoliosis syndrome' SubClassOf 'dysostosis of genetic origin' 'microcephaly-brachydactyly-kyphoscoliosis syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'microcephaly-brachydactyly-kyphoscoliosis syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0018086 ulerythema ophryogenesis 'ulerythema ophryogenesis' SubClassOf 'keratosis pilaris atrophicans' http://purl.obolibrary.org/obo/MONDO_0018089 double outlet right ventricle 'double outlet right ventricle' SubClassOf 'genetic cardiac anomaly' 'double outlet right ventricle' SubClassOf 'ventricular septal defect' 'double outlet right ventricle' SubClassOf 'conotruncal heart malformations' http://purl.obolibrary.org/obo/MONDO_0018088 familial Mediterranean fever 'familial Mediterranean fever' SubClassOf 'primary immunodeficiency due to a genetic defect in innate immunity' 'familial Mediterranean fever' SubClassOf 'secondary glomerular disease' 'familial Mediterranean fever' SubClassOf 'hereditary periodic fever syndrome' http://purl.obolibrary.org/obo/MONDO_0018098 autosomal dominant limb-girdle muscular dystrophy type 1E (DES) 'autosomal dominant limb-girdle muscular dystrophy type 1E (DES)' SubClassOf 'muscular dystrophy, limb-girdle, autosomal dominant' 'autosomal dominant limb-girdle muscular dystrophy type 1E (DES)' SubClassOf 'qualitative or quantitative defects of desmin' http://purl.obolibrary.org/obo/MONDO_0018097 West syndrome 'West syndrome' SubClassOf 'syndromic intellectual disability' 'West syndrome' SubClassOf 'neonatal/infantile epilepsy syndrome' 'West syndrome' SubClassOf 'infancy electroclinical syndrome' http://purl.obolibrary.org/obo/MONDO_0016987 neuroacanthocytosis 'neuroacanthocytosis' SubClassOf 'Huntington disease-like syndrome' 'neuroacanthocytosis' SubClassOf 'movement disorder' 'neuroacanthocytosis' SubClassOf 'disease arises from feature' some 'neurodegenerative disease' 'neuroacanthocytosis' SubClassOf 'disease has major feature' some 'dementia' http://purl.obolibrary.org/obo/MONDO_0016988 hyperinsulinism due to HNF4A deficiency 'hyperinsulinism due to HNF4A deficiency' SubClassOf 'diazoxide-sensitive diffuse hyperinsulinism' http://purl.obolibrary.org/obo/MONDO_0016983 Bartter syndrome with hypocalcemia 'Bartter syndrome with hypocalcemia' SubClassOf 'Bartter syndrome' http://purl.obolibrary.org/obo/MONDO_0014327 palmoplantar keratoderma, nonepidermolytic, focal or diffuse 'palmoplantar keratoderma, nonepidermolytic, focal or diffuse' SubClassOf 'hereditary palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0016980 ATR-X-related syndrome 'ATR-X-related syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'ATR-X-related syndrome' SubClassOf 'congenital nervous system disorder' 'ATR-X-related syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '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 'genetic nervous system disorder' 'infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome' SubClassOf 'syndromic intellectual disability' 'infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome' SubClassOf 'disorder of thiamine metabolism and transport' 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 'genetic nervous system disorder' 'Bosch-Boonstra-Schaaf optic atrophy syndrome' SubClassOf 'syndromic hereditary optic neuropathy' http://purl.obolibrary.org/obo/MONDO_0014335 diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome 'diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome' SubClassOf 'syndromic disease' 'diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome' SubClassOf 'inherited neurodegenerative disorder' http://purl.obolibrary.org/obo/MONDO_0016998 obsolete complex chromosomal rearrangement 'obsolete complex chromosomal rearrangement' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0014334 severe combined immunodeficiency due to LCK deficiency 'severe combined immunodeficiency due to LCK deficiency' SubClassOf 'T-B- severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0016999 obsolete X chromosome number anomaly 'obsolete X chromosome number anomaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0014332 hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency 'hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency' SubClassOf 'gluconeogenesis disorder' 'hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency' SubClassOf 'urea cycle disorder' http://purl.obolibrary.org/obo/MONDO_0016994 microcephalic osteodysplastic primordial dwarfism types I and III 'microcephalic osteodysplastic primordial dwarfism types I and III' SubClassOf 'microcephalic primordial dwarfism' 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 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' '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' http://purl.obolibrary.org/obo/MONDO_0016993 generalized peeling skin syndrome type C 'generalized peeling skin syndrome type C' SubClassOf 'generalized peeling skin syndrome' http://purl.obolibrary.org/obo/MONDO_0014331 Moyamoya disease with early-onset achalasia 'Moyamoya disease with early-onset achalasia' SubClassOf 'Moyamoya disease' 'Moyamoya disease with early-onset achalasia' SubClassOf 'genetic gastro-esophageal disease' http://purl.obolibrary.org/obo/MONDO_0014342 female infertility due to zona pellucida defect 'female infertility due to zona pellucida defect' SubClassOf 'inherited oocyte maturation defect' 'female infertility due to zona pellucida defect' SubClassOf 'female infertility' http://purl.obolibrary.org/obo/MONDO_0014351 pontocerebellar hypoplasia type 9 'pontocerebellar hypoplasia type 9' SubClassOf 'pontocerebellar hypoplasia' http://purl.obolibrary.org/obo/MONDO_0014361 autism spectrum disorder due to AUTS2 deficiency 'autism spectrum disorder due to AUTS2 deficiency' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'autism spectrum disorder due to AUTS2 deficiency' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'autism spectrum disorder due to AUTS2 deficiency' SubClassOf 'syndromic intellectual disability' 'autism spectrum disorder due to AUTS2 deficiency' SubClassOf 'intellectual disability, autosomal dominant' 'autism spectrum disorder due to AUTS2 deficiency' SubClassOf 'congenital nervous system disorder' 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 'congenital nervous system disorder' 'ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder' SubClassOf 'intellectual disability, autosomal dominant' 'ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014375 congenital diarrhea 7 with exudative enteropathy 'congenital diarrhea 7 with exudative enteropathy' SubClassOf 'congenital diarrhea' 'congenital diarrhea 7 with exudative enteropathy' SubClassOf 'intractable diarrhea of infancy' http://purl.obolibrary.org/obo/MONDO_0014389 polyglucosan body myopathy 1 with or without immunodeficiency 'polyglucosan body myopathy 1 with or without immunodeficiency' SubClassOf 'glycogen storage disease' 'polyglucosan body myopathy 1 with or without immunodeficiency' SubClassOf 'polyglucosan body myopathy' 'polyglucosan body myopathy 1 with or without immunodeficiency' SubClassOf 'muscular glycogenosis' http://purl.obolibrary.org/obo/MONDO_0014388 familial median cleft of the upper and lower lips 'familial median cleft of the upper and lower lips' SubClassOf 'orofacial cleft' 'familial median cleft of the upper and lower lips' SubClassOf 'genetic head and neck malformation' 'familial median cleft of the upper and lower lips' SubClassOf 'median facial cleft' http://purl.obolibrary.org/obo/MONDO_0014382 tall stature-intellectual disability-facial dysmorphism syndrome 'tall stature-intellectual disability-facial dysmorphism syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'tall stature-intellectual disability-facial dysmorphism syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'tall stature-intellectual disability-facial dysmorphism syndrome' SubClassOf 'genetic nervous system disorder' '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/HP_0034241 Prenatal death 'Prenatal death' SubClassOf 'age at death' http://purl.obolibrary.org/obo/MONDO_0002412 glycogen storage disease 'glycogen storage disease' SubClassOf 'inborn disorder of energy metabolism' 'glycogen storage disease' SubClassOf 'inborn carbohydrate metabolic disorder' http://purl.obolibrary.org/obo/MONDO_0002413 glycogen storage disease I 'glycogen storage disease I' SubClassOf 'glycogen storage disease' 'glycogen storage disease I' SubClassOf 'nephropathy secondary to a storage or other metabolic disease' http://purl.obolibrary.org/obo/MONDO_0002422 adamantinoma 'adamantinoma' SubClassOf 'bone carcinoma' http://purl.obolibrary.org/obo/MONDO_0014401 tall stature-scoliosis-macrodactyly of the great toes syndrome 'tall stature-scoliosis-macrodactyly of the great toes syndrome' SubClassOf 'dysostosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0014404 Webb-Dattani syndrome 'Webb-Dattani syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014403 short stature due to GHSR deficiency 'short stature due to GHSR deficiency' SubClassOf 'non-acquired pituitary hormone deficiency' http://purl.obolibrary.org/obo/MONDO_0014402 severe neurodegenerative syndrome with lipodystrophy 'severe neurodegenerative syndrome with lipodystrophy' SubClassOf 'genetic lipodystrophy' 'severe neurodegenerative syndrome with lipodystrophy' SubClassOf 'inherited neurodegenerative 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 'genetic nervous system disorder' 'ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome' SubClassOf 'central nervous system malformation' 'ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014410 spinocerebellar ataxia type 37 'spinocerebellar ataxia type 37' SubClassOf 'autosomal dominant cerebellar ataxia type I' http://purl.obolibrary.org/obo/MONDO_0014413 orofaciodigital syndrome type 14 'orofaciodigital syndrome type 14' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'orofaciodigital syndrome type 14' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'orofaciodigital syndrome type 14' SubClassOf 'orofaciodigital syndrome' 'orofaciodigital syndrome type 14' SubClassOf 'congenital nervous system disorder' 'orofaciodigital syndrome type 14' SubClassOf 'genetic nervous system disorder' 'orofaciodigital syndrome type 14' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0002441 Jervell and Lange-Nielsen syndrome 'Jervell and Lange-Nielsen syndrome' SubClassOf 'syndromic genetic hearing loss' 'Jervell and Lange-Nielsen syndrome' SubClassOf 'familial long QT syndrome' http://purl.obolibrary.org/obo/MONDO_0014429 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency 'autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency' SubClassOf 'inherited susceptibility to mycobacterial diseases' http://purl.obolibrary.org/obo/MONDO_0014423 severe combined immunodeficiency due to DNA-PKcs deficiency 'severe combined immunodeficiency due to DNA-PKcs deficiency' SubClassOf 'T-B- severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0014421 glucocorticoid resistance 'glucocorticoid resistance' SubClassOf 'developmental anomaly of metabolic origin' 'glucocorticoid resistance' SubClassOf 'inherited lipid metabolism disorder' 'glucocorticoid resistance' SubClassOf 'adrenogenital syndrome' 'glucocorticoid resistance' SubClassOf '46,XX disorder of sex development induced by fetal androgens excess' http://purl.obolibrary.org/obo/MONDO_0014420 short stature due to primary acid-labile subunit deficiency 'short stature due to primary acid-labile subunit deficiency' SubClassOf 'growth hormone insensitivity syndrome' 'short stature due to primary acid-labile subunit deficiency' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0002457 Treacher-Collins syndrome 'Treacher-Collins syndrome' SubClassOf 'genetic syndromic Pierre Robin syndrome' 'Treacher-Collins syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Treacher-Collins syndrome' SubClassOf 'neuro-ophthalmological disease' 'Treacher-Collins syndrome' SubClassOf 'malposition of external canthus' 'Treacher-Collins syndrome' SubClassOf 'syndromic genetic hearing loss' 'Treacher-Collins syndrome' SubClassOf 'congenital nervous system disorder' 'Treacher-Collins syndrome' SubClassOf 'syndromic palpebral coloboma' 'Treacher-Collins syndrome' SubClassOf 'eyelids malposition disorder' 'Treacher-Collins syndrome' SubClassOf 'dysostosis of genetic origin' 'Treacher-Collins syndrome' SubClassOf 'branchial arch or oral-acral syndrome' 'Treacher-Collins syndrome' SubClassOf 'autosomal dominant disease' 'Treacher-Collins syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'Treacher-Collins syndrome' SubClassOf 'mandibulofacial dysostosis' http://purl.obolibrary.org/obo/MONDO_0014209 early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome 'early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome' SubClassOf 'eye degenerative disorder' 'early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome' SubClassOf 'facial paralysis' 'early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome' SubClassOf 'complex hereditary spastic paraplegia' 'early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome' SubClassOf 'syndromic hereditary optic neuropathy' http://purl.obolibrary.org/obo/MONDO_0014208 Charcot-Marie-Tooth disease type 2R 'Charcot-Marie-Tooth disease type 2R' SubClassOf 'autosomal recessive axonal hereditary motor and sensory neuropathy' 'Charcot-Marie-Tooth disease type 2R' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://purl.obolibrary.org/obo/MONDO_0016866 partial deletion of chromosome 1 'partial deletion of chromosome 1' SubClassOf 'syndrome caused by partial chromosomal deletion' 'partial deletion of chromosome 1' SubClassOf 'chromosome 1 disorder' http://purl.obolibrary.org/obo/MONDO_0016867 partial deletion of chromosome 2 'partial deletion of chromosome 2' SubClassOf 'chromosome 2 disorder' 'partial deletion of chromosome 2' SubClassOf 'syndrome caused by partial chromosomal deletion' http://purl.obolibrary.org/obo/MONDO_0014201 developmental and epileptic encephalopathy, 18 'developmental and epileptic encephalopathy, 18' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'developmental and epileptic encephalopathy, 18' SubClassOf 'infantile epilepsy syndrome' 'developmental and epileptic encephalopathy, 18' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'developmental and epileptic encephalopathy, 18' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 18' SubClassOf 'developmental anomaly of metabolic origin' http://purl.obolibrary.org/obo/MONDO_0016868 partial deletion of chromosome 3 'partial deletion of chromosome 3' SubClassOf 'syndrome caused by partial chromosomal deletion' 'partial deletion of chromosome 3' SubClassOf 'chromosome 3 disorder' http://purl.obolibrary.org/obo/MONDO_0014200 aldosterone-producing adenoma with seizures and neurological abnormalities 'aldosterone-producing adenoma with seizures and neurological abnormalities' SubClassOf 'familial hyperaldosteronism' http://purl.obolibrary.org/obo/MONDO_0016869 partial deletion of chromosome 4 'partial deletion of chromosome 4' SubClassOf 'syndrome caused by partial chromosomal deletion' 'partial deletion of chromosome 4' SubClassOf 'chromosome 4 disorder' http://purl.obolibrary.org/obo/MONDO_0016862 Alagille syndrome due to a JAG1 point mutation 'Alagille syndrome due to a JAG1 point mutation' SubClassOf 'Alagille syndrome' http://purl.obolibrary.org/obo/MONDO_0016863 Okihiro syndrome due to 20q13 microdeletion 'Okihiro syndrome due to 20q13 microdeletion' SubClassOf 'partial deletion of the long arm of chromosome 20' 'Okihiro syndrome due to 20q13 microdeletion' SubClassOf 'Duane-radial ray syndrome' 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 'genetic nervous system disorder' 'severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '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 'genetic multiple congenital anomalies/dysmorphic syndrome' 'severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0016864 Okihiro syndrome due to a point mutation 'Okihiro syndrome due to a point mutation' SubClassOf 'Duane-radial ray syndrome' http://purl.obolibrary.org/obo/MONDO_0016865 Kleefstra syndrome due to a point mutation 'Kleefstra syndrome due to a point mutation' SubClassOf 'Kleefstra syndrome' http://purl.obolibrary.org/obo/MONDO_0016860 familial adenomatous polyposis due to 5q22.2 microdeletion 'familial adenomatous polyposis due to 5q22.2 microdeletion' SubClassOf 'partial deletion of the long arm of chromosome 5' 'familial adenomatous polyposis due to 5q22.2 microdeletion' SubClassOf 'classic familial adenomatous polyposis' http://purl.obolibrary.org/obo/MONDO_0016861 Alagille syndrome due to 20p12 microdeletion 'Alagille syndrome due to 20p12 microdeletion' SubClassOf 'partial monosomy of the short arm of chromosome 20' 'Alagille syndrome due to 20p12 microdeletion' SubClassOf 'Alagille syndrome' http://purl.obolibrary.org/obo/MONDO_0016877 partial deletion of the long arm of chromosome 12 'partial deletion of the long arm of chromosome 12' SubClassOf 'partial deletion of chromosome 12' http://purl.obolibrary.org/obo/MONDO_0014213 intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome 'intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf 'congenital nervous system disorder' 'intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf 'intellectual disability, autosomal dominant' 'intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0016878 partial deletion of chromosome 16 'partial deletion of chromosome 16' SubClassOf 'syndrome caused by partial chromosomal deletion' 'partial deletion of chromosome 16' SubClassOf 'chromosome 16 disorder' http://purl.obolibrary.org/obo/MONDO_0014212 sulfite oxidase deficiency due to molybdenum cofactor deficiency type C 'sulfite oxidase deficiency due to molybdenum cofactor deficiency type C' SubClassOf 'sulfite oxidase deficiency due to molybdenum cofactor deficiency' http://purl.obolibrary.org/obo/MONDO_0016879 partial deletion of chromosome 17 'partial deletion of chromosome 17' SubClassOf 'chromosome 17 disorder' 'partial deletion of chromosome 17' SubClassOf 'syndrome caused by partial chromosomal deletion' http://purl.obolibrary.org/obo/MONDO_0014218 severe dermatitis-multiple allergies-metabolic wasting syndrome 'severe dermatitis-multiple allergies-metabolic wasting syndrome' SubClassOf 'allergic disease' 'severe dermatitis-multiple allergies-metabolic wasting syndrome' SubClassOf 'genetic skin disease' 'severe dermatitis-multiple allergies-metabolic wasting syndrome' SubClassOf 'hyper-IgE syndrome' 'severe dermatitis-multiple allergies-metabolic wasting syndrome' SubClassOf 'epidermal disease' http://purl.obolibrary.org/obo/MONDO_0016873 partial deletion of chromosome 8 'partial deletion of chromosome 8' SubClassOf 'syndrome caused by partial chromosomal deletion' 'partial deletion of chromosome 8' SubClassOf 'chromosome 8 disorder' http://purl.obolibrary.org/obo/MONDO_0016874 partial deletion of chromosome 9 'partial deletion of chromosome 9' SubClassOf 'syndrome caused by partial chromosomal deletion' 'partial deletion of chromosome 9' SubClassOf 'chromosome 9 disorder' http://purl.obolibrary.org/obo/MONDO_0016875 partial deletion of chromosome 10 'partial deletion of chromosome 10' SubClassOf 'syndrome caused by partial chromosomal deletion' 'partial deletion of chromosome 10' SubClassOf 'chromosome 10 disorder' http://purl.obolibrary.org/obo/MONDO_0016876 partial deletion of chromosome 11 'partial deletion of chromosome 11' SubClassOf 'syndrome caused by partial chromosomal deletion' 'partial deletion of chromosome 11' SubClassOf 'chromosome 11 disorder' http://purl.obolibrary.org/obo/MONDO_0016870 partial deletion of chromosome 5 'partial deletion of chromosome 5' SubClassOf 'chromosome 5 disorder' 'partial deletion of chromosome 5' SubClassOf 'syndrome caused by partial chromosomal deletion' http://purl.obolibrary.org/obo/MONDO_0016871 partial deletion of chromosome 6 'partial deletion of chromosome 6' SubClassOf 'syndrome caused by partial chromosomal deletion' 'partial deletion of chromosome 6' SubClassOf 'chromosome 6 disorder' http://purl.obolibrary.org/obo/MONDO_0016872 partial deletion of chromosome 7 'partial deletion of chromosome 7' SubClassOf 'chromosome 7 disorder' 'partial deletion of chromosome 7' SubClassOf 'syndrome caused by partial chromosomal deletion' http://purl.obolibrary.org/obo/MONDO_0014210 intellectual disability-hypotonia-spasticity-sleep disorder syndrome 'intellectual disability-hypotonia-spasticity-sleep disorder syndrome' SubClassOf 'genetic nervous system disorder' 'intellectual disability-hypotonia-spasticity-sleep disorder syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0016888 partial deletion of the short arm of chromosome 6 'partial deletion of the short arm of chromosome 6' SubClassOf 'partial deletion of chromosome 6' http://purl.obolibrary.org/obo/MONDO_0014225 hemochromatosis type 5 'hemochromatosis type 5' SubClassOf 'has modifier' some 'rare' 'hemochromatosis type 5' SubClassOf 'hereditary hemochromatosis' 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 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0016889 partial deletion of the short arm of chromosome 7 'partial deletion of the short arm of chromosome 7' SubClassOf 'partial deletion of chromosome 7' http://purl.obolibrary.org/obo/MONDO_0016884 partial deletion of the short arm of chromosome 2 'partial deletion of the short arm of chromosome 2' SubClassOf 'partial deletion of chromosome 2' http://purl.obolibrary.org/obo/MONDO_0016885 partial deletion of the short arm of chromosome 3 'partial deletion of the short arm of chromosome 3' SubClassOf 'partial deletion of chromosome 3' http://purl.obolibrary.org/obo/MONDO_0014227 hypopigmentation-punctate palmoplantar keratoderma syndrome 'hypopigmentation-punctate palmoplantar keratoderma syndrome' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0016887 partial deletion of the short arm of chromosome 5 'partial deletion of the short arm of chromosome 5' SubClassOf 'partial deletion of chromosome 5' http://purl.obolibrary.org/obo/MONDO_0014226 idiopathic CD4 lymphocytopenia 'idiopathic CD4 lymphocytopenia' SubClassOf 'idiopathic disease' 'idiopathic CD4 lymphocytopenia' SubClassOf 'non-SCID combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0016880 partial deletion of chromosome 18 'partial deletion of chromosome 18' SubClassOf 'syndrome caused by partial chromosomal deletion' 'partial deletion of chromosome 18' SubClassOf 'chromosome 18 disorder' http://purl.obolibrary.org/obo/MONDO_0016881 partial deletion of chromosome 19 'partial deletion of chromosome 19' SubClassOf 'syndrome caused by partial chromosomal deletion' 'partial deletion of chromosome 19' SubClassOf 'chromosome 19 disorder' http://purl.obolibrary.org/obo/MONDO_0016882 partial deletion of chromosome 20 'partial deletion of chromosome 20' SubClassOf 'chromosome 20 disorder' 'partial deletion of chromosome 20' SubClassOf 'syndrome caused by partial chromosomal deletion' http://purl.obolibrary.org/obo/MONDO_0016883 partial deletion of the short arm of chromosome 1 'partial deletion of the short arm of chromosome 1' SubClassOf 'partial deletion of chromosome 1' http://purl.obolibrary.org/obo/MONDO_0014221 triosephosphate isomerase deficiency 'triosephosphate isomerase deficiency' SubClassOf 'anemia due to erythrocyte enzyme disorder' 'triosephosphate isomerase deficiency' SubClassOf 'neurometabolic disease' 'triosephosphate isomerase deficiency' SubClassOf 'glucose metabolism disease' 'triosephosphate isomerase deficiency' SubClassOf 'disorder of glycolysis' 'triosephosphate isomerase deficiency' SubClassOf 'cerebral organic aciduria' 'triosephosphate isomerase deficiency' SubClassOf 'familial hemolytic anemia' http://purl.obolibrary.org/obo/MONDO_0016899 Duchenne and Becker muscular dystrophy 'Duchenne and Becker muscular dystrophy' SubClassOf 'familial dilated cardiomyopathy' 'Duchenne and Becker muscular dystrophy' SubClassOf 'genetic nervous system disorder' 'Duchenne and Becker muscular dystrophy' SubClassOf 'progressive muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0014234 reticulate acropigmentation of Kitamura 'reticulate acropigmentation of Kitamura' SubClassOf 'reticulate pigment disorder' 'reticulate acropigmentation of Kitamura' SubClassOf 'hyperpigmentation of the skin' http://purl.obolibrary.org/obo/MONDO_0016897 partial deletion of the short arm of chromosome 19 'partial deletion of the short arm of chromosome 19' SubClassOf 'partial deletion of chromosome 19' 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 'genetic multiple congenital anomalies/dysmorphic 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' 'severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0016898 partial monosomy of the short arm of chromosome 20 'partial monosomy of the short arm of chromosome 20' SubClassOf 'partial deletion of chromosome 20' http://purl.obolibrary.org/obo/MONDO_0016892 partial deletion of the short arm of chromosome 10 'partial deletion of the short arm of chromosome 10' SubClassOf 'partial deletion of chromosome 10' http://purl.obolibrary.org/obo/MONDO_0016893 partial deletion of the short arm of chromosome 11 'partial deletion of the short arm of chromosome 11' SubClassOf 'partial deletion of chromosome 11' http://purl.obolibrary.org/obo/MONDO_0016894 partial deletion of the short arm of chromosome 16 'partial deletion of the short arm of chromosome 16' SubClassOf 'partial deletion of chromosome 16' http://purl.obolibrary.org/obo/MONDO_0016890 partial deletion of the short arm of chromosome 8 'partial deletion of the short arm of chromosome 8' SubClassOf 'partial deletion of chromosome 8' http://purl.obolibrary.org/obo/MONDO_0014247 familial episodic pain syndrome with predominantly lower limb involvement 'familial episodic pain syndrome with predominantly lower limb involvement' SubClassOf 'syndromic disease' 'familial episodic pain syndrome with predominantly lower limb involvement' SubClassOf 'familial episodic pain syndrome' http://purl.obolibrary.org/obo/MONDO_0014244 hereditary sensory and autonomic neuropathy type 7 'hereditary sensory and autonomic neuropathy type 7' SubClassOf 'autosomal dominant hereditary sensory and autonomic neuropathy' http://purl.obolibrary.org/obo/MONDO_0014248 autism spectrum disorder - epilepsy - arthrogryposis syndrome 'autism spectrum disorder - epilepsy - arthrogryposis syndrome' SubClassOf 'distal arthrogryposis' 'autism spectrum disorder - epilepsy - arthrogryposis syndrome' SubClassOf 'disorder of protein N-glycosylation' 'autism spectrum disorder - epilepsy - arthrogryposis syndrome' SubClassOf 'congenital nervous system disorder' 'autism spectrum disorder - epilepsy - arthrogryposis syndrome' SubClassOf 'neurometabolic disease' 'autism spectrum disorder - epilepsy - arthrogryposis syndrome' SubClassOf 'developmental anomaly of metabolic origin' http://purl.obolibrary.org/obo/MONDO_0014243 Schaaf-Yang syndrome 'Schaaf-Yang syndrome' SubClassOf 'Prader-Willi syndrome' http://purl.obolibrary.org/obo/MONDO_0014258 congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome 'congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome' SubClassOf 'congenital nervous system disorder' 'congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome' SubClassOf 'neurometabolic disease' 'congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome' SubClassOf 'disorder of asparagine metabolism' http://purl.obolibrary.org/obo/MONDO_0014250 familial hyperprolactinemia 'familial hyperprolactinemia' SubClassOf 'genetic infertility' 'familial hyperprolactinemia' EquivalentTo 'hyperprolactinemia' and ('has modifier' some 'inherited') 'familial hyperprolactinemia' SubClassOf 'female infertility' 'familial hyperprolactinemia' SubClassOf 'inborn errors of metabolism' 'familial hyperprolactinemia' SubClassOf 'male infertility' 'familial hyperprolactinemia' SubClassOf 'genetic nervous system disorder' 'familial hyperprolactinemia' SubClassOf 'hyperprolactinemia' http://purl.obolibrary.org/obo/MONDO_0014267 severe combined immunodeficiency due to IKK2 deficiency 'severe combined immunodeficiency due to IKK2 deficiency' SubClassOf 'T+ B+ severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0014261 growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome 'growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome' SubClassOf 'neurometabolic disease' 'growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0014272 palmoplantar keratoderma, Nagashima type 'palmoplantar keratoderma, Nagashima type' SubClassOf 'autosomal recessive isolated diffuse palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0014271 STT3B-CDG 'STT3B-CDG' SubClassOf 'disorder of protein N-glycosylation' 'STT3B-CDG' SubClassOf 'congenital nervous system disorder' 'STT3B-CDG' SubClassOf 'neurometabolic disease' 'STT3B-CDG' SubClassOf 'congenital disorder of glycosylation type I' http://purl.obolibrary.org/obo/MONDO_0014270 STT3A-CDG 'STT3A-CDG' SubClassOf 'congenital nervous system disorder' 'STT3A-CDG' SubClassOf 'congenital disorder of glycosylation type I' 'STT3A-CDG' SubClassOf 'disorder of protein N-glycosylation' 'STT3A-CDG' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0014276 combined immunodeficiency due to CD3gamma deficiency 'combined immunodeficiency due to CD3gamma deficiency' SubClassOf 'non-SCID combined immunodeficiency' 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 'genetic nervous system disorder' 'microcephaly-thin corpus callosum-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'microcephaly-thin corpus callosum-intellectual disability syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'microcephaly-thin corpus callosum-intellectual disability syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0014290 neurodegeneration with brain iron accumulation 6 'neurodegeneration with brain iron accumulation 6' SubClassOf 'neurodegeneration with brain iron accumulation' http://purl.obolibrary.org/obo/MONDO_0014289 macrocephaly-developmental delay syndrome 'macrocephaly-developmental delay syndrome' SubClassOf 'syndromic intellectual disability' 'macrocephaly-developmental delay syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'macrocephaly-developmental delay syndrome' SubClassOf 'genetic nervous system disorder' 'macrocephaly-developmental delay syndrome' SubClassOf 'congenital nervous system disorder' 'macrocephaly-developmental delay syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0014282 hereditary spastic paraplegia 72 'hereditary spastic paraplegia 72' SubClassOf 'pure hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0014294 chromosome 15q11.2 deletion syndrome 'chromosome 15q11.2 deletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 15' http://purl.obolibrary.org/obo/MONDO_0014292 leukoencephalopathy with mild cerebellar ataxia and white matter edema 'leukoencephalopathy with mild cerebellar ataxia and white matter edema' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0004907 alopecia 'alopecia' SubClassOf 'hair anomaly' http://purl.obolibrary.org/obo/MONDO_0016907 partial deletion of the long arm of chromosome 8 'partial deletion of the long arm of chromosome 8' SubClassOf 'partial deletion of chromosome 8' http://purl.obolibrary.org/obo/MONDO_0016908 partial monosomy of the long arm of chromosome 9 'partial monosomy of the long arm of chromosome 9' SubClassOf 'partial deletion of chromosome 9' http://purl.obolibrary.org/obo/MONDO_0016909 partial monosomy of the long arm of chromosome 10 'partial monosomy of the long arm of chromosome 10' SubClassOf 'partial deletion of chromosome 10' http://purl.obolibrary.org/obo/MONDO_0016903 partial deletion of the long arm of chromosome 4 'partial deletion of the long arm of chromosome 4' SubClassOf 'partial deletion of chromosome 4' http://purl.obolibrary.org/obo/MONDO_0016904 partial deletion of the long arm of chromosome 5 'partial deletion of the long arm of chromosome 5' SubClassOf 'partial deletion of chromosome 5' http://purl.obolibrary.org/obo/MONDO_0016905 partial deletion of the long arm of chromosome 6 'partial deletion of the long arm of chromosome 6' SubClassOf 'partial deletion of chromosome 6' http://purl.obolibrary.org/obo/MONDO_0016906 partial deletion of the long arm of chromosome 7 'partial deletion of the long arm of chromosome 7' SubClassOf 'partial deletion of chromosome 7' http://purl.obolibrary.org/obo/MONDO_0016901 partial deletion of the long arm of chromosome 2 'partial deletion of the long arm of chromosome 2' SubClassOf 'partial deletion of chromosome 2' http://purl.obolibrary.org/obo/MONDO_0016902 partial deletion of the long arm of chromosome 3 'partial deletion of the long arm of chromosome 3' SubClassOf 'partial deletion of chromosome 3' http://purl.obolibrary.org/obo/MONDO_0016918 partial deletion of the long arm of chromosome 20 'partial deletion of the long arm of chromosome 20' SubClassOf 'partial deletion of chromosome 20' http://purl.obolibrary.org/obo/MONDO_0016919 partial deletion of the long arm of chromosome 21 'partial deletion of the long arm of chromosome 21' SubClassOf 'syndrome caused by partial chromosomal deletion' http://purl.obolibrary.org/obo/MONDO_0016914 partial deletion of the long arm of chromosome 16 'partial deletion of the long arm of chromosome 16' SubClassOf 'partial deletion of chromosome 16' http://purl.obolibrary.org/obo/MONDO_0016915 partial deletion of the long arm of chromosome 17 'partial deletion of the long arm of chromosome 17' SubClassOf 'partial deletion of chromosome 17' http://purl.obolibrary.org/obo/MONDO_0016917 partial deletion of the long arm of chromosome 19 'partial deletion of the long arm of chromosome 19' SubClassOf 'partial deletion of chromosome 19' http://purl.obolibrary.org/obo/MONDO_0016910 partial deletion of the long arm of chromosome 11 'partial deletion of the long arm of chromosome 11' SubClassOf 'partial deletion of chromosome 11' http://purl.obolibrary.org/obo/MONDO_0016911 partial deletion of the long arm of chromosome 13 'partial deletion of the long arm of chromosome 13' SubClassOf 'syndrome caused by partial chromosomal deletion' http://purl.obolibrary.org/obo/MONDO_0016912 partial deletion of the long arm of chromosome 14 'partial deletion of the long arm of chromosome 14' SubClassOf 'syndrome caused by partial chromosomal deletion' http://purl.obolibrary.org/obo/MONDO_0016913 partial deletion of the long arm of chromosome 15 'partial deletion of the long arm of chromosome 15' SubClassOf 'syndrome caused by partial chromosomal deletion' http://purl.obolibrary.org/obo/MONDO_0016929 partial duplication of chromosome 8 'partial duplication of chromosome 8' SubClassOf 'syndrome caused by partial chromosomal duplication' 'partial duplication of chromosome 8' SubClassOf 'chromosome 8 disorder' 'partial duplication of chromosome 8' SubClassOf 'partial autosomal trisomy/tetrasomy' http://purl.obolibrary.org/obo/MONDO_0016925 partial trisomy/tetrasomy of chromosome 5 'partial trisomy/tetrasomy of chromosome 5' SubClassOf 'partial autosomal trisomy/tetrasomy' 'partial trisomy/tetrasomy of chromosome 5' SubClassOf 'chromosome 5 disorder' 'partial trisomy/tetrasomy of chromosome 5' SubClassOf 'syndrome caused by partial chromosomal duplication' http://purl.obolibrary.org/obo/MONDO_0016927 partial duplication of chromosome 6 'partial duplication of chromosome 6' SubClassOf 'syndrome caused by partial chromosomal duplication' 'partial duplication of chromosome 6' SubClassOf 'partial autosomal trisomy/tetrasomy' 'partial duplication of chromosome 6' SubClassOf 'chromosome 6 disorder' http://purl.obolibrary.org/obo/MONDO_0016928 partial duplication of chromosome 7 'partial duplication of chromosome 7' SubClassOf 'chromosome 7 disorder' 'partial duplication of chromosome 7' SubClassOf 'syndrome caused by partial chromosomal duplication' 'partial duplication of chromosome 7' SubClassOf 'partial autosomal trisomy/tetrasomy' http://purl.obolibrary.org/obo/MONDO_0016921 partial duplication of chromosome 1 'partial duplication of chromosome 1' SubClassOf 'chromosome 1 disorder' 'partial duplication of chromosome 1' SubClassOf 'partial autosomal trisomy/tetrasomy' 'partial duplication of chromosome 1' SubClassOf 'syndrome caused by partial chromosomal duplication' http://purl.obolibrary.org/obo/MONDO_0016922 partial duplication of chromosome 2 'partial duplication of chromosome 2' SubClassOf 'partial autosomal trisomy/tetrasomy' 'partial duplication of chromosome 2' SubClassOf 'syndrome caused by partial chromosomal duplication' 'partial duplication of chromosome 2' SubClassOf 'chromosome 2 disorder' http://purl.obolibrary.org/obo/MONDO_0016923 partial duplication of chromosome 3 'partial duplication of chromosome 3' SubClassOf 'syndrome caused by partial chromosomal duplication' 'partial duplication of chromosome 3' SubClassOf 'partial autosomal trisomy/tetrasomy' 'partial duplication of chromosome 3' SubClassOf 'chromosome 3 disorder' http://purl.obolibrary.org/obo/MONDO_0016924 partial duplication of chromosome 4 'partial duplication of chromosome 4' SubClassOf 'chromosome 4 disorder' 'partial duplication of chromosome 4' SubClassOf 'syndrome caused by partial chromosomal duplication' 'partial duplication of chromosome 4' SubClassOf 'partial autosomal trisomy/tetrasomy' http://purl.obolibrary.org/obo/MONDO_0016936 partial trisomy/tetrasomy of chromosome 18 'partial trisomy/tetrasomy of chromosome 18' SubClassOf 'syndrome caused by partial chromosomal duplication' 'partial trisomy/tetrasomy of chromosome 18' SubClassOf 'partial autosomal trisomy/tetrasomy' 'partial trisomy/tetrasomy of chromosome 18' SubClassOf 'chromosome 18 disorder' http://purl.obolibrary.org/obo/MONDO_0016937 partial duplication of chromosome 19 'partial duplication of chromosome 19' SubClassOf 'partial autosomal trisomy/tetrasomy' 'partial duplication of chromosome 19' SubClassOf 'chromosome 19 disorder' 'partial duplication of chromosome 19' SubClassOf 'syndrome caused by partial chromosomal duplication' http://purl.obolibrary.org/obo/MONDO_0016938 partial trisomy of chromosome 20 'partial trisomy of chromosome 20' SubClassOf 'partial autosomal trisomy/tetrasomy' 'partial trisomy of chromosome 20' SubClassOf 'chromosome 20 disorder' 'partial trisomy of chromosome 20' SubClassOf 'syndrome caused by partial chromosomal duplication' http://purl.obolibrary.org/obo/MONDO_0016939 partial duplication of the short arm of chromosome 2 'partial duplication of the short arm of chromosome 2' SubClassOf 'partial duplication of chromosome 2' http://purl.obolibrary.org/obo/MONDO_0016932 partial duplication of chromosome 11 'partial duplication of chromosome 11' SubClassOf 'partial autosomal trisomy/tetrasomy' 'partial duplication of chromosome 11' SubClassOf 'syndrome caused by partial chromosomal duplication' 'partial duplication of chromosome 11' SubClassOf 'chromosome 11 disorder' http://purl.obolibrary.org/obo/MONDO_0016933 partial trisomy/tetrasomy of the short arm of chromosome 12 'partial trisomy/tetrasomy of the short arm of chromosome 12' SubClassOf 'partial duplication of chromosome 12' http://purl.obolibrary.org/obo/MONDO_0016934 partial duplication of chromosome 16 'partial duplication of chromosome 16' SubClassOf 'syndrome caused by partial chromosomal duplication' 'partial duplication of chromosome 16' SubClassOf 'chromosome 16 disorder' 'partial duplication of chromosome 16' SubClassOf 'partial autosomal trisomy/tetrasomy' http://purl.obolibrary.org/obo/MONDO_0016935 partial duplication of chromosome 17 'partial duplication of chromosome 17' SubClassOf 'partial autosomal trisomy/tetrasomy' 'partial duplication of chromosome 17' SubClassOf 'chromosome 17 disorder' 'partial duplication of chromosome 17' SubClassOf 'syndrome caused by partial chromosomal duplication' http://purl.obolibrary.org/obo/MONDO_0016930 partial trisomy/tetrasomy of chromosome 9 'partial trisomy/tetrasomy of chromosome 9' SubClassOf 'chromosome 9 disorder' 'partial trisomy/tetrasomy of chromosome 9' SubClassOf 'partial autosomal trisomy/tetrasomy' 'partial trisomy/tetrasomy of chromosome 9' SubClassOf 'syndrome caused by partial chromosomal duplication' http://purl.obolibrary.org/obo/MONDO_0016931 partial duplication of chromosome 10 'partial duplication of chromosome 10' SubClassOf 'syndrome caused by partial chromosomal duplication' 'partial duplication of chromosome 10' SubClassOf 'partial autosomal trisomy/tetrasomy' 'partial duplication of chromosome 10' SubClassOf 'chromosome 10 disorder' http://purl.obolibrary.org/obo/MONDO_0016947 partial duplication of the short arm of chromosome 10 'partial duplication of the short arm of chromosome 10' SubClassOf 'partial duplication of chromosome 10' http://purl.obolibrary.org/obo/MONDO_0016948 partial duplication of the short arm of chromosome 11 'partial duplication of the short arm of chromosome 11' SubClassOf 'partial duplication of chromosome 11' http://purl.obolibrary.org/obo/MONDO_0016949 partial duplication of the short arm of chromosome 16 'partial duplication of the short arm of chromosome 16' SubClassOf 'partial duplication of chromosome 16' http://purl.obolibrary.org/obo/MONDO_0016943 partial duplication of the short arm of chromosome 6 'partial duplication of the short arm of chromosome 6' SubClassOf 'partial duplication of chromosome 6' http://purl.obolibrary.org/obo/MONDO_0016944 partial duplication of the short arm of chromosome 7 'partial duplication of the short arm of chromosome 7' SubClassOf 'partial duplication of chromosome 7' http://purl.obolibrary.org/obo/MONDO_0016945 partial duplication of the short arm of chromosome 8 'partial duplication of the short arm of chromosome 8' SubClassOf 'partial duplication of chromosome 8' http://purl.obolibrary.org/obo/MONDO_0016946 obsolete partial trisomy of the short arm of chromosome 9 'obsolete partial trisomy of the short arm of chromosome 9' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0016940 partial duplication of the short arm of chromosome 3 'partial duplication of the short arm of chromosome 3' SubClassOf 'partial duplication of chromosome 3' http://purl.obolibrary.org/obo/MONDO_0016941 partial duplication of the short arm of chromosome 4 'partial duplication of the short arm of chromosome 4' SubClassOf 'partial duplication of chromosome 4' http://purl.obolibrary.org/obo/MONDO_0016942 partial trisomy/tetrasomy of the short arm of chromosome 5 'partial trisomy/tetrasomy of the short arm of chromosome 5' SubClassOf 'partial trisomy/tetrasomy of chromosome 5' http://purl.obolibrary.org/obo/MONDO_0016958 partial duplication of the long arm of chromosome 7 'partial duplication of the long arm of chromosome 7' SubClassOf 'partial duplication of chromosome 7' http://purl.obolibrary.org/obo/MONDO_0016959 partial duplication of the long arm of chromosome 8 'partial duplication of the long arm of chromosome 8' SubClassOf 'partial duplication of chromosome 8' http://purl.obolibrary.org/obo/MONDO_0016954 partial duplication of the long arm of chromosome 3 'partial duplication of the long arm of chromosome 3' SubClassOf 'partial duplication of chromosome 3' http://purl.obolibrary.org/obo/MONDO_0016955 partial duplication of the long arm of chromosome 4 'partial duplication of the long arm of chromosome 4' SubClassOf 'partial duplication of chromosome 4' http://purl.obolibrary.org/obo/MONDO_0016956 partial trisomy of the long arm of chromosome 5 'partial trisomy of the long arm of chromosome 5' SubClassOf 'partial trisomy/tetrasomy of chromosome 5' http://purl.obolibrary.org/obo/MONDO_0016957 partial duplication of the long arm of chromosome 6 'partial duplication of the long arm of chromosome 6' SubClassOf 'partial duplication of chromosome 6' http://purl.obolibrary.org/obo/MONDO_0016950 partial duplication of the short arm of chromosome 17 'partial duplication of the short arm of chromosome 17' SubClassOf 'partial duplication of chromosome 17' http://purl.obolibrary.org/obo/MONDO_0016951 partial trisomy/tetrasomy of the short arm of chromosome 18 'partial trisomy/tetrasomy of the short arm of chromosome 18' SubClassOf 'partial trisomy/tetrasomy of chromosome 18' http://purl.obolibrary.org/obo/MONDO_0016952 partial duplication of the long arm of chromosome 1 'partial duplication of the long arm of chromosome 1' SubClassOf 'partial duplication of chromosome 1' http://purl.obolibrary.org/obo/MONDO_0016953 partial duplication of the long arm of chromosome 2 'partial duplication of the long arm of chromosome 2' SubClassOf 'partial duplication of chromosome 2' http://purl.obolibrary.org/obo/MONDO_0014309 obesity due to CEP19 deficiency 'obesity due to CEP19 deficiency' SubClassOf 'genetic non-syndromic obesity' http://purl.obolibrary.org/obo/MONDO_0016969 partial duplication of the long arm of chromosome 19 'partial duplication of the long arm of chromosome 19' SubClassOf 'partial duplication of chromosome 19' http://purl.obolibrary.org/obo/MONDO_0016965 partial duplication of the long arm of chromosome 15 'partial duplication of the long arm of chromosome 15' SubClassOf 'partial autosomal trisomy/tetrasomy' 'partial duplication of the long arm of chromosome 15' SubClassOf 'syndrome caused by partial chromosomal duplication' http://purl.obolibrary.org/obo/MONDO_0014302 hereditary spastic paraplegia 62 'hereditary spastic paraplegia 62' SubClassOf 'autosomal recessive pure spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0016966 partial trisomy of the long arm of chromosome 16 'partial trisomy of the long arm of chromosome 16' SubClassOf 'partial duplication of chromosome 16' http://purl.obolibrary.org/obo/MONDO_0016967 partial duplication of the long arm of chromosome 17 'partial duplication of the long arm of chromosome 17' SubClassOf 'partial duplication of chromosome 17' http://purl.obolibrary.org/obo/MONDO_0014300 proximal myopathy with extrapyramidal signs 'proximal myopathy with extrapyramidal signs' SubClassOf 'non-dystrophic myopathy' 'proximal myopathy with extrapyramidal signs' SubClassOf 'genetic nervous system disorder' 'proximal myopathy with extrapyramidal signs' SubClassOf 'movement disorder' 'proximal myopathy with extrapyramidal signs' SubClassOf 'disease arises from feature' some 'neurodegenerative disease' http://purl.obolibrary.org/obo/MONDO_0016968 partial trisomy of the long arm of chromosome 18 'partial trisomy of the long arm of chromosome 18' SubClassOf 'partial trisomy/tetrasomy of chromosome 18' http://purl.obolibrary.org/obo/MONDO_0016961 partial duplication of the long arm of chromosome 10 'partial duplication of the long arm of chromosome 10' SubClassOf 'partial duplication of chromosome 10' http://purl.obolibrary.org/obo/MONDO_0014305 hereditary spastic paraplegia 63 'hereditary spastic paraplegia 63' SubClassOf 'autosomal recessive complex spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0016962 obsolete partial duplication of the long arm of chromosome 11 'obsolete partial duplication of the long arm of chromosome 11' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0014304 hereditary spastic paraplegia 61 'hereditary spastic paraplegia 61' SubClassOf 'autosomal recessive complex spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0016963 obsolete partial duplication of the long arm of chromosome 13 'obsolete partial duplication of the long arm of chromosome 13' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0014303 hereditary spastic paraplegia 64 'hereditary spastic paraplegia 64' SubClassOf 'autosomal recessive complex spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0016964 partial duplication of the long arm of chromosome 14 'partial duplication of the long arm of chromosome 14' SubClassOf 'syndrome caused by partial chromosomal duplication' 'partial duplication of the long arm of chromosome 14' SubClassOf 'partial autosomal trisomy/tetrasomy' http://purl.obolibrary.org/obo/MONDO_0016960 partial trisomy of the long arm of chromosome 9 'partial trisomy of the long arm of chromosome 9' SubClassOf 'partial trisomy/tetrasomy of chromosome 9' http://purl.obolibrary.org/obo/MONDO_0014311 autosomal recessive spinocerebellar ataxia 15 'autosomal recessive spinocerebellar ataxia 15' SubClassOf 'autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0014310 hereditary sclerosing poikiloderma with tendon and pulmonary involvement 'hereditary sclerosing poikiloderma with tendon and pulmonary involvement' SubClassOf 'hereditary poikiloderma' 'hereditary sclerosing poikiloderma with tendon and pulmonary involvement' SubClassOf 'primary interstitial lung disease specific to adulthood' 'hereditary sclerosing poikiloderma with tendon and pulmonary involvement' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0016979 MRCS syndrome 'MRCS syndrome' SubClassOf 'inherited retinal dystrophy' 'MRCS syndrome' SubClassOf 'syndromic cataract' http://purl.obolibrary.org/obo/MONDO_0016972 partial duplication of the long arm of chromosome 22 'partial duplication of the long arm of chromosome 22' SubClassOf 'syndrome caused by partial chromosomal duplication' 'partial duplication of the long arm of chromosome 22' SubClassOf 'partial autosomal trisomy/tetrasomy' http://purl.obolibrary.org/obo/MONDO_0014317 pancytopenia-developmental delay syndrome 'pancytopenia-developmental delay syndrome' SubClassOf 'bone marrow failure syndrome' 'pancytopenia-developmental delay syndrome' SubClassOf 'inherited aplastic anemia' http://purl.obolibrary.org/obo/MONDO_0014314 sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome 'sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome' SubClassOf 'neural tube defect' 'sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0016970 partial trisomy of the long arm of chromosome 20 'partial trisomy of the long arm of chromosome 20' SubClassOf 'partial trisomy of chromosome 20' http://purl.obolibrary.org/obo/MONDO_0016971 limb-girdle muscular dystrophy 'limb-girdle muscular dystrophy' SubClassOf 'progressive muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0016758 microcephaly-brain defect-spasticity-hypernatremia syndrome 'microcephaly-brain defect-spasticity-hypernatremia syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0016759 pontocerebellar hypoplasia type 2 'pontocerebellar hypoplasia type 2' SubClassOf 'pontocerebellar hypoplasia' 'pontocerebellar hypoplasia type 2' SubClassOf 'hereditary motor neuron disease' 'pontocerebellar hypoplasia type 2' SubClassOf 'bulbospinal muscular atrophy' http://purl.obolibrary.org/obo/MONDO_0016750 microcephaly-cleft palate syndrome 'microcephaly-cleft palate syndrome' SubClassOf 'syndromic intellectual disability' 'microcephaly-cleft palate syndrome' SubClassOf 'orofacial clefting syndrome' 'microcephaly-cleft palate syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'microcephaly-cleft palate syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0014109 NGLY1-deficiency 'NGLY1-deficiency' SubClassOf 'inborn carbohydrate metabolic disorder' 'NGLY1-deficiency' SubClassOf 'genetic nervous system disorder' 'NGLY1-deficiency' SubClassOf 'glycoprotein metabolism disease' 'NGLY1-deficiency' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0016763 spondylometaphyseal dysplasia 'spondylometaphyseal dysplasia' SubClassOf 'primary bone dysplasia' 'spondylometaphyseal dysplasia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0016764 isolated anophthalmia-microphthalmia syndrome 'isolated anophthalmia-microphthalmia syndrome' SubClassOf 'anophthalmia-microphthalmia syndrome' 'isolated anophthalmia-microphthalmia syndrome' EquivalentTo 'anophthalmia-microphthalmia syndrome' and ('has modifier' some 'has an isolated presentation') 'isolated anophthalmia-microphthalmia syndrome' SubClassOf 'non-syndromic developmental defect of the eye' http://purl.obolibrary.org/obo/MONDO_0016765 19p13.12 microdeletion syndrome '19p13.12 microdeletion syndrome' SubClassOf 'partial deletion of the short arm of chromosome 19' http://purl.obolibrary.org/obo/MONDO_0016760 microcephaly-microcornea syndrome, Seemanova type 'microcephaly-microcornea syndrome, Seemanova type' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'microcephaly-microcornea syndrome, Seemanova type' SubClassOf 'genetic nervous system disorder' 'microcephaly-microcornea syndrome, Seemanova type' SubClassOf 'syndromic intellectual disability' 'microcephaly-microcornea syndrome, Seemanova type' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'microcephaly-microcornea syndrome, Seemanova type' SubClassOf 'congenital nervous system disorder' 'microcephaly-microcornea syndrome, Seemanova type' SubClassOf 'developmental defect of the eye' http://purl.obolibrary.org/obo/MONDO_0016761 spondyloepiphyseal dysplasia 'spondyloepiphyseal dysplasia' SubClassOf 'osteochondrodysplasia' 'spondyloepiphyseal dysplasia' SubClassOf 'primary bone dysplasia' http://purl.obolibrary.org/obo/MONDO_0016762 microcornea-corectopia-macular hypoplasia syndrome 'microcornea-corectopia-macular hypoplasia syndrome' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0014115 hypomyelination with brain stem and spinal cord involvement and leg spasticity 'hypomyelination with brain stem and spinal cord involvement and leg spasticity' SubClassOf 'leukodystrophy' 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 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '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' 'intellectual disability-strabismus syndrome' SubClassOf 'neuro-ophthalmological disease' 'intellectual disability-strabismus syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0014118 congenital neutropenia-myelofibrosis-nephromegaly syndrome 'congenital neutropenia-myelofibrosis-nephromegaly syndrome' SubClassOf 'autosomal recessive severe congenital neutropenia' http://purl.obolibrary.org/obo/MONDO_0014117 Charcot-Marie-Tooth disease type 4B3 'Charcot-Marie-Tooth disease type 4B3' SubClassOf 'Charcot-Marie-Tooth disease type 4' http://purl.obolibrary.org/obo/MONDO_0002145 difference of sexual differentiation 'difference of sexual differentiation' SubClassOf 'gonadal disorder' 'difference of sexual differentiation' SubClassOf 'developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0016789 pyruvate metabolism disorder 'pyruvate metabolism disorder' SubClassOf 'inborn disorder of energy metabolism' 'pyruvate metabolism disorder' SubClassOf 'inherited organic acidemia' http://purl.obolibrary.org/obo/MONDO_0014129 autosomal recessive limb-girdle muscular dystrophy type 2R 'autosomal recessive limb-girdle muscular dystrophy type 2R' SubClassOf 'qualitative or quantitative defects of desmin' 'autosomal recessive limb-girdle muscular dystrophy type 2R' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0014127 oculocutaneous albinism type 5 'oculocutaneous albinism type 5' SubClassOf 'oculocutaneous albinism' http://purl.obolibrary.org/obo/MONDO_0016781 maternal 14q32.2 microdeletion syndrome 'maternal 14q32.2 microdeletion syndrome' SubClassOf 'multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' http://purl.obolibrary.org/obo/MONDO_0016782 paternal 14q32.2 hypomethylation syndrome 'paternal 14q32.2 hypomethylation syndrome' SubClassOf 'motor developmental delay due to 14q32.2 paternally expressed gene defect' http://purl.obolibrary.org/obo/MONDO_0016783 maternal 14q32.2 hypermethylation syndrome 'maternal 14q32.2 hypermethylation syndrome' SubClassOf 'multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' http://purl.obolibrary.org/obo/MONDO_0014121 autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures 'autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures' SubClassOf 'autosomal dominant childhood-onset proximal spinal muscular atrophy' http://purl.obolibrary.org/obo/MONDO_0016780 paternal 14q32.2 microdeletion syndrome 'paternal 14q32.2 microdeletion syndrome' SubClassOf 'motor developmental delay due to 14q32.2 paternally expressed gene defect' 'paternal 14q32.2 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 14' http://purl.obolibrary.org/obo/MONDO_0016796 mitochondrial DNA depletion syndrome, encephalomyopathic form 'mitochondrial DNA depletion syndrome, encephalomyopathic form' SubClassOf 'mitochondrial DNA depletion syndrome' 'mitochondrial DNA depletion syndrome, encephalomyopathic form' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0016797 multiple mitochondrial DNA deletion syndrome 'multiple mitochondrial DNA deletion syndrome' SubClassOf 'mitochondrial oxidative phosphorylation disorder' http://purl.obolibrary.org/obo/MONDO_0016798 ataxia neuropathy spectrum 'ataxia neuropathy spectrum' SubClassOf 'multiple mitochondrial DNA deletion syndrome' http://purl.obolibrary.org/obo/HP_0010447 Anal fistula 'Anal fistula' SubClassOf 'Abnormal intestine morphology' 'Anal fistula' SubClassOf 'Abnormality of the anus' http://purl.obolibrary.org/obo/MONDO_0016794 maternally-inherited mitochondrial myopathy 'maternally-inherited mitochondrial myopathy' SubClassOf 'mitochondrial oxidative phosphorylation disorder' http://purl.obolibrary.org/obo/MONDO_0014132 multiple mitochondrial dysfunctions syndrome 3 'multiple mitochondrial dysfunctions syndrome 3' SubClassOf 'fatal multiple mitochondrial dysfunctions syndrome' http://purl.obolibrary.org/obo/MONDO_0016790 tricarboxylic acid cycle disorder 'tricarboxylic acid cycle disorder' SubClassOf 'inborn disorder of energy metabolism' http://purl.obolibrary.org/obo/MONDO_0014131 hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome 'hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome' SubClassOf 'genetic nervous system disorder' 'hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome' SubClassOf 'diffuse palmoplantar keratoderma' 'hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0014147 neuronal ceroid lipofuscinosis 13 'neuronal ceroid lipofuscinosis 13' SubClassOf 'adult neuronal ceroid lipofuscinosis' http://purl.obolibrary.org/obo/MONDO_0014149 fetal akinesia-cerebral and retinal hemorrhage syndrome 'fetal akinesia-cerebral and retinal hemorrhage syndrome' SubClassOf 'lethal congenital contracture syndrome' 'fetal akinesia-cerebral and retinal hemorrhage syndrome' SubClassOf 'congenital myopathy' http://purl.obolibrary.org/obo/MONDO_0014144 autosomal recessive limb-girdle muscular dystrophy type 2S 'autosomal recessive limb-girdle muscular dystrophy type 2S' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' 'autosomal recessive limb-girdle muscular dystrophy type 2S' SubClassOf 'intellectual disability-hyperkinetic movement-truncal ataxia syndrome' http://purl.obolibrary.org/obo/MONDO_0014142 autosomal recessive limb-girdle muscular dystrophy type 2T 'autosomal recessive limb-girdle muscular dystrophy type 2T' SubClassOf 'neurometabolic disease' 'autosomal recessive limb-girdle muscular dystrophy type 2T' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' 'autosomal recessive limb-girdle muscular dystrophy type 2T' SubClassOf 'muscular dystrophy-dystroglycanopathy, type C' 'autosomal recessive limb-girdle muscular dystrophy type 2T' SubClassOf 'disorder of O-mannosylglycan synthesis' 'autosomal recessive limb-girdle muscular dystrophy type 2T' SubClassOf 'myopathy caused by variation in GMPPB' http://purl.obolibrary.org/obo/MONDO_0014159 autosomal recessive spinocerebellar ataxia 14 'autosomal recessive spinocerebellar ataxia 14' SubClassOf 'autosomal recessive cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0014158 nephronophthisis 16 'nephronophthisis 16' SubClassOf 'nephronophthisis' http://purl.obolibrary.org/obo/MONDO_0014157 mandibular hypoplasia-deafness-progeroid syndrome 'mandibular hypoplasia-deafness-progeroid syndrome' SubClassOf 'syndromic genetic hearing loss' 'mandibular hypoplasia-deafness-progeroid syndrome' SubClassOf 'progeroid syndrome' http://purl.obolibrary.org/obo/MONDO_0014154 Charcot-Marie-Tooth disease recessive intermediate C 'Charcot-Marie-Tooth disease recessive intermediate C' SubClassOf 'autosomal recessive intermediate Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0014168 severe combined immunodeficiency due to CORO1A deficiency 'severe combined immunodeficiency due to CORO1A deficiency' SubClassOf 'T-B+ severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0014162 infantile hypertrophic cardiomyopathy due to MRPL44 deficiency 'infantile hypertrophic cardiomyopathy due to MRPL44 deficiency' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0014160 TCR-alpha-beta-positive T-cell deficiency 'TCR-alpha-beta-positive T-cell deficiency' SubClassOf 'non-SCID combined immunodeficiency' 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 'genetic nervous system disorder' 'multiple congenital anomalies-hypotonia-seizures syndrome 3' SubClassOf 'inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' 'multiple congenital anomalies-hypotonia-seizures syndrome 3' SubClassOf 'congenital disorder of glycosylation-related bone disorder' 'multiple congenital anomalies-hypotonia-seizures syndrome 3' SubClassOf 'congenital nervous system disorder' 'multiple congenital anomalies-hypotonia-seizures syndrome 3' SubClassOf 'slender bone dysplasia' 'multiple congenital anomalies-hypotonia-seizures syndrome 3' SubClassOf 'multiple congenital anomalies-hypotonia-seizures syndrome' http://purl.obolibrary.org/obo/MONDO_0014180 epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency 'epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency' SubClassOf 'basal epidermolysis bullosa simplex' http://purl.obolibrary.org/obo/MONDO_0014176 hypotonia, infantile, with psychomotor retardation and characteristic facies 'hypotonia, infantile, with psychomotor retardation and characteristic facies' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'hypotonia, infantile, with psychomotor retardation and characteristic facies' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'hypotonia, infantile, with psychomotor retardation and characteristic facies' SubClassOf 'inherited neurodegenerative disorder' 'hypotonia, infantile, with psychomotor retardation and characteristic facies' SubClassOf 'syndromic intellectual disability' 'hypotonia, infantile, with psychomotor retardation and characteristic facies' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0014190 combined oxidative phosphorylation defect type 17 'combined oxidative phosphorylation defect type 17' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0014185 chromosome 3q13.31 deletion syndrome 'chromosome 3q13.31 deletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 3' http://purl.obolibrary.org/obo/MONDO_0014195 microcornea-myopic chorioretinal atrophy 'microcornea-myopic chorioretinal atrophy' SubClassOf 'inherited retinal dystrophy' 'microcornea-myopic chorioretinal atrophy' SubClassOf 'developmental defect of the eye' http://purl.obolibrary.org/obo/MONDO_0014198 mitochondrial DNA depletion syndrome 13 'mitochondrial DNA depletion syndrome 13' SubClassOf 'mitochondrial DNA depletion syndrome, encephalomyopathic form' http://purl.obolibrary.org/obo/MONDO_0014197 combined immunodeficiency due to MALT1 deficiency 'combined immunodeficiency due to MALT1 deficiency' SubClassOf 'non-SCID combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0014196 Hartsfield-Bixler-Demyer syndrome 'Hartsfield-Bixler-Demyer syndrome' SubClassOf 'genetic nervous system disorder' 'Hartsfield-Bixler-Demyer syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'Hartsfield-Bixler-Demyer syndrome' SubClassOf 'syndromic intellectual disability' 'Hartsfield-Bixler-Demyer syndrome' SubClassOf 'orofacial clefting syndrome' 'Hartsfield-Bixler-Demyer syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Hartsfield-Bixler-Demyer syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Hartsfield-Bixler-Demyer syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0016808 mitochondrial DNA depletion syndrome, hepatocerebral form 'mitochondrial DNA depletion syndrome, hepatocerebral form' SubClassOf 'mitochondrial DNA depletion syndrome' 'mitochondrial DNA depletion syndrome, hepatocerebral form' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016809 spinocerebellar ataxia with epilepsy 'spinocerebellar ataxia with epilepsy' SubClassOf 'sensory ataxic neuropathy, dysarthria, and ophthalmoparesis' http://purl.obolibrary.org/obo/MONDO_0016805 isolated oxidative phosphorylation complex disorder 'isolated oxidative phosphorylation complex disorder' SubClassOf 'mitochondrial oxidative phosphorylation disorder' http://purl.obolibrary.org/obo/MONDO_0016806 maternally-inherited mitochondrial dystonia 'maternally-inherited mitochondrial dystonia' SubClassOf 'mitochondrial oxidative phosphorylation disorder' http://purl.obolibrary.org/obo/MONDO_0016807 pure mitochondrial myopathy 'pure mitochondrial myopathy' SubClassOf 'maternally-inherited mitochondrial myopathy' http://purl.obolibrary.org/obo/MONDO_0016800 mitochondrial membrane transport disorder 'mitochondrial membrane transport disorder' SubClassOf 'inborn mitochondrial metabolism disorder' http://purl.obolibrary.org/obo/MONDO_0016801 mitochondrial substrate carrier disorder 'mitochondrial substrate carrier disorder' SubClassOf 'mitochondrial membrane transport disorder' http://purl.obolibrary.org/obo/MONDO_0016802 mitochondrial protein import disorder 'mitochondrial protein import disorder' SubClassOf 'mitochondrial membrane transport disorder' http://purl.obolibrary.org/obo/MONDO_0016803 unspecified inborn mitochondrial disorder 'unspecified inborn mitochondrial disorder' SubClassOf 'inborn mitochondrial metabolism disorder' http://purl.obolibrary.org/obo/MONDO_0016819 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome 'Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome' SubClassOf 'congenital hypogonadotropic hypogonadism' http://purl.obolibrary.org/obo/MONDO_0016815 Leigh syndrome with leukodystrophy 'Leigh syndrome with leukodystrophy' SubClassOf 'Leigh syndrome' http://purl.obolibrary.org/obo/MONDO_0016816 Leigh syndrome with nephrotic syndrome 'Leigh syndrome with nephrotic syndrome' SubClassOf 'disease has feature' some 'nephrotic syndrome' 'Leigh syndrome with nephrotic syndrome' SubClassOf 'Leigh syndrome' 'Leigh syndrome with nephrotic syndrome' SubClassOf 'coenzyme Q10 deficiency' http://purl.obolibrary.org/obo/MONDO_0016817 Meier-Gorlin syndrome 'Meier-Gorlin syndrome' SubClassOf 'autosomal recessive disease' 'Meier-Gorlin syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Meier-Gorlin syndrome' SubClassOf 'patellar dysostosis' 'Meier-Gorlin syndrome' SubClassOf 'microcephalic primordial dwarfism' 'Meier-Gorlin syndrome' SubClassOf 'branchial arch or oral-acral syndrome' http://purl.obolibrary.org/obo/MONDO_0016818 Mikati-Najjar-Sahli syndrome 'Mikati-Najjar-Sahli syndrome' SubClassOf 'syndromic disease' 'Mikati-Najjar-Sahli syndrome' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016811 renal tubulopathy-encephalopathy-liver failure syndrome 'renal tubulopathy-encephalopathy-liver failure syndrome' SubClassOf 'mitochondrial complex III deficiency nuclear type 1' http://purl.obolibrary.org/obo/MONDO_0016812 dopa-responsive dystonia 'dopa-responsive dystonia' SubClassOf 'persistent combined dystonia' 'dopa-responsive dystonia' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0016814 maternally-inherited Leigh syndrome 'maternally-inherited Leigh syndrome' SubClassOf 'Leigh syndrome' http://purl.obolibrary.org/obo/MONDO_0016810 autosomal recessive progressive external ophthalmoplegia 'autosomal recessive progressive external ophthalmoplegia' SubClassOf 'multiple mitochondrial DNA deletion syndrome' 'autosomal recessive progressive external ophthalmoplegia' SubClassOf 'progressive external ophthalmoplegia' 'autosomal recessive progressive external ophthalmoplegia' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0016826 methylmalonic aciduria and homocystinuria 'methylmalonic aciduria and homocystinuria' SubClassOf 'methylmalonic acidemia' 'methylmalonic aciduria and homocystinuria' SubClassOf 'inborn disorder of cobalamin metabolism and transport' 'methylmalonic aciduria and homocystinuria' SubClassOf 'classic organic aciduria' 'methylmalonic aciduria and homocystinuria' DisjointWith 'homocystinuria without methylmalonic aciduria' 'methylmalonic aciduria and homocystinuria' EquivalentTo 'methylmalonic acidemia' and 'homocystinuria' 'methylmalonic aciduria and homocystinuria' SubClassOf 'inherited deficiency anemia' 'methylmalonic aciduria and homocystinuria' SubClassOf 'homocystinuria' http://purl.obolibrary.org/obo/MONDO_0016827 myopathy-growth delay-intellectual disability-hypospadias syndrome 'myopathy-growth delay-intellectual disability-hypospadias syndrome' SubClassOf 'syndromic urogenital tract malformation' 'myopathy-growth delay-intellectual disability-hypospadias syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0016828 autosomal recessive sideroblastic anemia 'autosomal recessive sideroblastic anemia' SubClassOf 'autosomal recessive disease' 'autosomal recessive sideroblastic anemia' SubClassOf 'inherited sideroblastic anemia' http://purl.obolibrary.org/obo/MONDO_0016829 familial visceral myopathy 'familial visceral myopathy' SubClassOf 'visceral myopathy' 'familial visceral myopathy' SubClassOf 'intestinal motility disease' http://purl.obolibrary.org/obo/MONDO_0016824 infantile myofibromatosis 'infantile myofibromatosis' SubClassOf 'hereditary disorder of connective tissue' 'infantile myofibromatosis' SubClassOf 'benign neoplasm of skin' 'infantile myofibromatosis' SubClassOf 'benign perivascular tumor' 'infantile myofibromatosis' SubClassOf 'inherited soft tissue tumor' 'infantile myofibromatosis' SubClassOf 'muscular tumor' 'infantile myofibromatosis' SubClassOf 'inherited skin tumor' 'infantile myofibromatosis' SubClassOf 'benign soft tissue neoplasm' http://purl.obolibrary.org/obo/MONDO_0016825 mitochondrial myopathy-lactic acidosis-deafness syndrome 'mitochondrial myopathy-lactic acidosis-deafness syndrome' SubClassOf 'inborn mitochondrial myopathy' 'mitochondrial myopathy-lactic acidosis-deafness syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0016820 Moyamoya disease 'Moyamoya disease' SubClassOf 'genetic central nervous system and retinal vascular disease' 'Moyamoya disease' SubClassOf 'Moyomoya angiopathy' 'Moyamoya disease' SubClassOf 'cerebral arterial disease' 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 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016837 16p13.11 microduplication syndrome '16p13.11 microduplication syndrome' SubClassOf 'partial duplication of the short arm of chromosome 16' http://purl.obolibrary.org/obo/MONDO_0016838 16q24.3 microdeletion syndrome '16q24.3 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 16' http://purl.obolibrary.org/obo/MONDO_0016839 distal 17p13.3 microdeletion syndrome 'distal 17p13.3 microdeletion syndrome' SubClassOf 'chromosome 17p deletion' http://purl.obolibrary.org/obo/MONDO_0016833 14q12 microdeletion syndrome '14q12 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 14' http://purl.obolibrary.org/obo/MONDO_0016834 16p11.2p12.2 microduplication syndrome '16p11.2p12.2 microduplication syndrome' SubClassOf 'partial duplication of the short arm of chromosome 16' http://purl.obolibrary.org/obo/MONDO_0016835 14q11.2 microduplication syndrome '14q11.2 microduplication syndrome' SubClassOf 'partial duplication of the long arm of chromosome 14' http://purl.obolibrary.org/obo/MONDO_0016836 16p13.11 microdeletion syndrome '16p13.11 microdeletion syndrome' SubClassOf 'partial deletion of the short arm of chromosome 16' http://purl.obolibrary.org/obo/MONDO_0016830 Emery-Dreifuss muscular dystrophy 'Emery-Dreifuss muscular dystrophy' SubClassOf 'familial dilated cardiomyopathy' 'Emery-Dreifuss muscular dystrophy' SubClassOf 'progressive muscular dystrophy' 'Emery-Dreifuss muscular dystrophy' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0016832 distal 7q11.23 microduplication syndrome 'distal 7q11.23 microduplication syndrome' SubClassOf '7q11.23 microduplication syndrome' http://purl.obolibrary.org/obo/MONDO_0016844 trisomy 20p 'trisomy 20p' SubClassOf 'partial trisomy of chromosome 20' http://purl.obolibrary.org/obo/MONDO_0016845 21q22.11q22.12 microdeletion syndrome '21q22.11q22.12 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 21' http://purl.obolibrary.org/obo/MONDO_0016846 distal 22q11.2 microduplication syndrome 'distal 22q11.2 microduplication syndrome' SubClassOf 'chromosome 22q11.2 microduplication syndrome' http://purl.obolibrary.org/obo/MONDO_0016847 trisomy 1q 'trisomy 1q' SubClassOf 'partial duplication of the long arm of chromosome 1' http://purl.obolibrary.org/obo/MONDO_0016840 trisomy 17p 'trisomy 17p' SubClassOf 'partial duplication of the short arm of chromosome 17' http://purl.obolibrary.org/obo/MONDO_0016841 20p12.3 microdeletion syndrome '20p12.3 microdeletion syndrome' SubClassOf 'partial monosomy of the short arm of chromosome 20' http://purl.obolibrary.org/obo/MONDO_0016842 paternal 20q13.2q13.3 microdeletion syndrome 'paternal 20q13.2q13.3 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 20' http://purl.obolibrary.org/obo/MONDO_0016843 20q13.33 microdeletion syndrome '20q13.33 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 20' http://purl.obolibrary.org/obo/MONDO_0016859 blepharophimosis-epicanthus inversus-ptosis due to copy number variations 'blepharophimosis-epicanthus inversus-ptosis due to copy number variations' SubClassOf 'blepharophimosis, ptosis, and epicanthus inversus syndrome' http://purl.obolibrary.org/obo/MONDO_0016855 Mowat-Wilson syndrome due to monosomy 2q22 'Mowat-Wilson syndrome due to monosomy 2q22' SubClassOf 'Mowat-Wilson syndrome' 'Mowat-Wilson syndrome due to monosomy 2q22' SubClassOf 'partial deletion of the long arm of chromosome 2' http://purl.obolibrary.org/obo/MONDO_0016856 Mowat-Wilson syndrome due to a ZEB2 point mutation 'Mowat-Wilson syndrome due to a ZEB2 point mutation' SubClassOf 'Mowat-Wilson syndrome' http://purl.obolibrary.org/obo/MONDO_0016857 blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome 'blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome' SubClassOf 'partial deletion of the long arm of chromosome 3' 'blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome' SubClassOf 'blepharophimosis, ptosis, and epicanthus inversus syndrome' http://purl.obolibrary.org/obo/MONDO_0016858 blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome 'blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome' SubClassOf 'blepharophimosis, ptosis, and epicanthus inversus syndrome' http://purl.obolibrary.org/obo/MONDO_0016851 maternal uniparental disomy of chromosome X 'maternal uniparental disomy of chromosome X' SubClassOf 'uniparental disomy' 'maternal uniparental disomy of chromosome X' SubClassOf 'chromosome X disorder' http://purl.obolibrary.org/obo/MONDO_0016852 paternal uniparental disomy of chromosome X 'paternal uniparental disomy of chromosome X' SubClassOf 'uniparental disomy' 'paternal uniparental disomy of chromosome X' SubClassOf 'chromosome X disorder' http://purl.obolibrary.org/obo/MONDO_0016853 ring chromosome Y 'ring chromosome Y' SubClassOf 'ring chromosome disorder' 'ring chromosome Y' SubClassOf 'chromosome Y disorder' http://purl.obolibrary.org/obo/MONDO_0016854 49,XXXYY syndrome '49,XXXYY syndrome' SubClassOf 'aneuploidy' '49,XXXYY syndrome' SubClassOf 'chromosome X disorder' '49,XXXYY syndrome' SubClassOf 'chromosome Y disorder' http://purl.obolibrary.org/obo/MONDO_0016850 atypical Norrie disease due to monosomy Xp11.3 'atypical Norrie disease due to monosomy Xp11.3' SubClassOf 'partial monosomy of the short arm of chromosome X' http://purl.obolibrary.org/obo/MONDO_0016624 inherited deficiency anemia 'inherited deficiency anemia' EquivalentTo 'deficiency anemia' and ('has modifier' some 'inherited') 'inherited deficiency anemia' SubClassOf 'deficiency anemia' 'inherited deficiency anemia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0016626 hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency 'hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency' SubClassOf 'normocytic anemia' http://purl.obolibrary.org/obo/MONDO_0016620 primary hypertrophic osteoarthropathy 'primary hypertrophic osteoarthropathy' SubClassOf 'genetic disorder' 'primary hypertrophic osteoarthropathy' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0016621 juvenile Huntington disease 'juvenile Huntington disease' SubClassOf 'Huntington disease' http://purl.obolibrary.org/obo/MONDO_0016622 Melhem-Fahl syndrome 'Melhem-Fahl syndrome' SubClassOf 'dysostosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0016639 lower limb deficiency-hypospadias syndrome 'lower limb deficiency-hypospadias syndrome' SubClassOf 'syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0016638 familial hypodysfibrinogenemia 'familial hypodysfibrinogenemia' SubClassOf 'congenital afibrinogenemia' http://purl.obolibrary.org/obo/MONDO_0016630 isolated delta-storage pool disease 'isolated delta-storage pool disease' SubClassOf 'isolated constitutional thrombocytopenia' http://purl.obolibrary.org/obo/MONDO_0016646 autosomal dominant optic atrophy and peripheral neuropathy 'autosomal dominant optic atrophy and peripheral neuropathy' SubClassOf 'mitochondrial oxidative phosphorylation disorder' 'autosomal dominant optic atrophy and peripheral neuropathy' SubClassOf 'autosomal dominant optic atrophy' http://purl.obolibrary.org/obo/MONDO_0016647 autosomal recessive Stickler syndrome 'autosomal recessive Stickler syndrome' SubClassOf 'multiple epiphyseal dysplasia and pseudoachondroplasia' 'autosomal recessive Stickler syndrome' SubClassOf 'autosomal recessive disease' 'autosomal recessive Stickler syndrome' SubClassOf 'Stickler syndrome' http://purl.obolibrary.org/obo/MONDO_0016648 multiple epiphyseal dysplasia 'multiple epiphyseal dysplasia' SubClassOf 'osteochondrodysplasia' 'multiple epiphyseal dysplasia' SubClassOf 'genetic disorder' 'multiple epiphyseal dysplasia' SubClassOf 'multiple epiphyseal dysplasia and pseudoachondroplasia' http://purl.obolibrary.org/obo/MONDO_0016649 Warburg micro syndrome 'Warburg micro syndrome' SubClassOf 'lissencephaly spectrum disorders' 'Warburg micro syndrome' SubClassOf 'syndromic microphthalmia' 'Warburg micro syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Warburg micro syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Warburg micro syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0016642 meningioma 'meningioma' SubClassOf 'meningeal neoplasm' http://purl.obolibrary.org/obo/MONDO_0016643 frontonasal dysplasia 'frontonasal dysplasia' SubClassOf 'dysostosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0016657 8p11.2 deletion syndrome '8p11.2 deletion syndrome' SubClassOf 'partial deletion of the short arm of chromosome 8' http://purl.obolibrary.org/obo/MONDO_0016658 8p23.1 microdeletion syndrome '8p23.1 microdeletion syndrome' SubClassOf 'partial deletion of the short arm of chromosome 8' '8p23.1 microdeletion syndrome' SubClassOf 'syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0016659 8p23.1 duplication syndrome '8p23.1 duplication syndrome' SubClassOf 'partial duplication of the short arm of chromosome 8' http://purl.obolibrary.org/obo/MONDO_0016653 2q33.1 microdeletion syndrome '2q33.1 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 2' http://purl.obolibrary.org/obo/MONDO_0016654 ring chromosome 5 'ring chromosome 5' SubClassOf 'ring chromosome disorder' 'ring chromosome 5' SubClassOf 'chromosome 5 disorder' http://purl.obolibrary.org/obo/MONDO_0016655 6p22 microdeletion syndrome '6p22 microdeletion syndrome' SubClassOf 'partial deletion of the short arm of chromosome 6' http://purl.obolibrary.org/obo/MONDO_0016656 7q31 microdeletion syndrome '7q31 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 7' http://purl.obolibrary.org/obo/MONDO_0016650 paternal uniparental disomy of chromosome 1 'paternal uniparental disomy of chromosome 1' SubClassOf 'uniparental disomy' 'paternal uniparental disomy of chromosome 1' SubClassOf 'chromosome 1 disorder' http://purl.obolibrary.org/obo/MONDO_0016651 maternal uniparental disomy of chromosome 1 'maternal uniparental disomy of chromosome 1' SubClassOf 'uniparental disomy' 'maternal uniparental disomy of chromosome 1' SubClassOf 'chromosome 1 disorder' http://purl.obolibrary.org/obo/MONDO_0016652 2q31.1 microdeletion syndrome '2q31.1 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 2' http://purl.obolibrary.org/obo/MONDO_0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis 'immunoglobulin-mediated membranoproliferative glomerulonephritis' SubClassOf 'hereditary nephritis' 'immunoglobulin-mediated membranoproliferative glomerulonephritis' SubClassOf 'atypical hemolytic-uremic syndrome' 'immunoglobulin-mediated membranoproliferative glomerulonephritis' SubClassOf 'primary membranoproliferative glomerulonephritis' 'immunoglobulin-mediated membranoproliferative glomerulonephritis' SubClassOf 'familial nephrotic syndrome' http://purl.obolibrary.org/obo/MONDO_0016668 sickle cell-beta-thalassemia disease syndrome 'sickle cell-beta-thalassemia disease syndrome' SubClassOf 'sickle cell disease associated with an other hemoglobin anomaly' http://purl.obolibrary.org/obo/MONDO_0016669 sickle cell-hemoglobin c disease syndrome 'sickle cell-hemoglobin c disease syndrome' SubClassOf 'sickle cell disease associated with an other hemoglobin anomaly' http://purl.obolibrary.org/obo/MONDO_0014006 Schuurs-Hoeijmakers syndrome 'Schuurs-Hoeijmakers syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Schuurs-Hoeijmakers syndrome' SubClassOf 'syndromic intellectual disability' 'Schuurs-Hoeijmakers syndrome' SubClassOf 'intellectual disability, autosomal dominant' 'Schuurs-Hoeijmakers syndrome' SubClassOf 'congenital nervous system disorder' 'Schuurs-Hoeijmakers syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0016667 sickle cell disease associated with an other hemoglobin anomaly 'sickle cell disease associated with an other hemoglobin anomaly' SubClassOf 'sickle cell disease and related diseases' http://purl.obolibrary.org/obo/MONDO_0016660 autosomal recessive primary microcephaly 'autosomal recessive primary microcephaly' SubClassOf 'autosomal recessive disease' 'autosomal recessive primary microcephaly' SubClassOf 'neuro-ophthalmological disease' 'autosomal recessive primary microcephaly' SubClassOf 'isolated congenital microcephaly' http://purl.obolibrary.org/obo/MONDO_0014016 hereditary spastic paraplegia 49 'hereditary spastic paraplegia 49' SubClassOf 'autosomal recessive complex spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0014015 hereditary spastic paraplegia 56 'hereditary spastic paraplegia 56' SubClassOf 'pure or complex autosomal recessive spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0016675 distal arthrogryposis type 10 'distal arthrogryposis type 10' SubClassOf 'distal arthrogryposis' http://purl.obolibrary.org/obo/MONDO_0016676 recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome 'recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome' SubClassOf 'zinc, elevated plasma' 'recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome' SubClassOf 'disorder of zinc metabolism' http://purl.obolibrary.org/obo/MONDO_0014018 hereditary spastic paraplegia 54 'hereditary spastic paraplegia 54' SubClassOf 'autosomal recessive complex spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0016671 sickle cell-hemoglobin E disease syndrome 'sickle cell-hemoglobin E disease syndrome' SubClassOf 'sickle cell disease associated with an other hemoglobin anomaly' http://purl.obolibrary.org/obo/MONDO_0016672 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome 'hereditary persistence of fetal hemoglobin-sickle cell disease syndrome' SubClassOf 'sickle cell disease associated with an other hemoglobin anomaly' http://purl.obolibrary.org/obo/MONDO_0016673 localized junctional epidermolysis bullosa, non-Herlitz type 'localized junctional epidermolysis bullosa, non-Herlitz type' SubClassOf 'junctional epidermolysis bullosa, non-Herlitz type' http://purl.obolibrary.org/obo/MONDO_0016674 46,XY partial gonadal dysgenesis '46,XY partial gonadal dysgenesis' SubClassOf 'female infertility' '46,XY partial gonadal dysgenesis' SubClassOf '46,XY disorder of gonadal development' '46,XY partial gonadal dysgenesis' SubClassOf 'male infertility' http://purl.obolibrary.org/obo/MONDO_0014012 Charcot-Marie-Tooth disease axonal type 2Q 'Charcot-Marie-Tooth disease axonal type 2Q' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://purl.obolibrary.org/obo/MONDO_0016670 sickle cell-hemoglobin d disease syndrome 'sickle cell-hemoglobin d disease syndrome' SubClassOf 'sickle cell disease associated with an other hemoglobin anomaly' http://purl.obolibrary.org/obo/MONDO_0014025 lower motor neuron syndrome with late-adult onset 'lower motor neuron syndrome with late-adult onset' SubClassOf 'autosomal dominant proximal spinal muscular atrophy' http://purl.obolibrary.org/obo/MONDO_0014024 hereditary spastic paraplegia 43 'hereditary spastic paraplegia 43' SubClassOf 'autosomal recessive complex spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0014028 distal arthrogryposis type 5D 'distal arthrogryposis type 5D' SubClassOf 'distal arthrogryposis' http://purl.obolibrary.org/obo/MONDO_0014023 congenital muscular dystrophy with intellectual disability and severe epilepsy 'congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf 'disorder of multiple glycosylation' 'congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf 'muscular dystrophy-dystroglycanopathy' 'congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf 'neurometabolic disease' 'congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf 'congenital disorder of glycosylation type I' http://purl.obolibrary.org/obo/MONDO_0014021 familial episodic pain syndrome with predominantly upper body involvement 'familial episodic pain syndrome with predominantly upper body involvement' SubClassOf 'familial episodic pain syndrome' http://purl.obolibrary.org/obo/MONDO_0014020 hereditary spastic paraplegia 55 'hereditary spastic paraplegia 55' SubClassOf 'autosomal recessive complex spastic paraplegia' 'hereditary spastic paraplegia 55' SubClassOf 'eye degenerative disorder' 'hereditary spastic paraplegia 55' SubClassOf 'c12orf65-related combined oxidative phosphorylation defect' 'hereditary spastic paraplegia 55' SubClassOf 'facial paralysis' http://purl.obolibrary.org/obo/MONDO_0014035 severe intellectual disability-progressive spastic diplegia syndrome 'severe intellectual disability-progressive spastic diplegia syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'severe intellectual disability-progressive spastic diplegia syndrome' SubClassOf 'syndromic intellectual disability' 'severe intellectual disability-progressive spastic diplegia syndrome' SubClassOf 'intellectual disability, autosomal dominant' 'severe intellectual disability-progressive spastic diplegia syndrome' SubClassOf 'congenital nervous system disorder' 'severe intellectual disability-progressive spastic diplegia syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0014039 mitochondrial DNA depletion syndrome 11 'mitochondrial DNA depletion syndrome 11' SubClassOf 'mitochondrial DNA depletion syndrome' 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 'intellectual disability, autosomal dominant' 'severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0014033 dystonia 25 'dystonia 25' SubClassOf 'focal, segmental or multifocal dystonia' 'dystonia 25' SubClassOf 'multifocal dystonia' http://purl.obolibrary.org/obo/MONDO_0014031 microcephalic primordial dwarfism, Alazami type 'microcephalic primordial dwarfism, Alazami type' SubClassOf 'microcephalic primordial dwarfism' http://purl.obolibrary.org/obo/MONDO_0014044 dysmorphism-conductive hearing loss-heart defect syndrome 'dysmorphism-conductive hearing loss-heart defect syndrome' SubClassOf 'syndromic genetic hearing loss' 'dysmorphism-conductive hearing loss-heart defect syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0014043 microcephalic primordial dwarfism due to ZNF335 deficiency 'microcephalic primordial dwarfism due to ZNF335 deficiency' SubClassOf 'autosomal recessive primary microcephaly' 'microcephalic primordial dwarfism due to ZNF335 deficiency' SubClassOf 'microcephalic primordial dwarfism' http://purl.obolibrary.org/obo/MONDO_0002070 ventricular septal defect 'ventricular septal defect' SubClassOf 'genetic disorder' 'ventricular septal defect' SubClassOf 'heart septal defect' http://purl.obolibrary.org/obo/MONDO_0014058 facial dysmorphism-immunodeficiency-livedo-short stature syndrome 'facial dysmorphism-immunodeficiency-livedo-short stature syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014070 oculocutaneous albinism type 7 'oculocutaneous albinism type 7' SubClassOf 'oculocutaneous albinism' http://purl.obolibrary.org/obo/MONDO_0014069 syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome 'syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome' SubClassOf 'congenital limb malformation' http://purl.obolibrary.org/obo/MONDO_0014062 mitochondrial DNA deletion syndrome with progressive myopathy 'mitochondrial DNA deletion syndrome with progressive myopathy' SubClassOf 'progressive external ophthalmoplegia with mitochondrial DNA deletions' 'mitochondrial DNA deletion syndrome with progressive myopathy' SubClassOf 'multiple mitochondrial DNA deletion syndrome' http://purl.obolibrary.org/obo/MONDO_0014060 progressive retinal dystrophy due to retinol transport defect 'progressive retinal dystrophy due to retinol transport defect' SubClassOf 'disorder of other vitamins and cofactors metabolism and transport' 'progressive retinal dystrophy due to retinol transport defect' SubClassOf 'inherited retinal dystrophy' 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 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'short ulna-dysmorphism-hypotonia-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014081 severe combined immunodeficiency due to CARD11 deficiency 'severe combined immunodeficiency due to CARD11 deficiency' SubClassOf 'T+ B+ severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0014074 Charcot-Marie-Tooth disease dominant intermediate F 'Charcot-Marie-Tooth disease dominant intermediate F' SubClassOf 'autosomal dominant intermediate Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0014072 D,L-2-hydroxyglutaric aciduria 'D,L-2-hydroxyglutaric aciduria' SubClassOf '2-hydroxyglutaric aciduria' http://purl.obolibrary.org/obo/MONDO_0014077 cobblestone lissencephaly without muscular or ocular involvement 'cobblestone lissencephaly without muscular or ocular involvement' SubClassOf 'cobblestone lissencephaly' http://purl.obolibrary.org/obo/MONDO_0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome 'cryptosporidiosis-chronic cholangitis-liver disease syndrome' SubClassOf 'non-SCID combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0014089 corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome 'corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome' SubClassOf 'superficial corneal dystrophy' 'corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome' SubClassOf 'diffuse palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0014096 microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome 'microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome' SubClassOf 'genetic nervous system disorder' 'microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome' SubClassOf 'congenital nervous system disorder' 'microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014094 severe congenital hypochromic anemia with ringed sideroblasts 'severe congenital hypochromic anemia with ringed sideroblasts' SubClassOf 'inherited sideroblastic anemia' 'severe congenital hypochromic anemia with ringed sideroblasts' SubClassOf 'congenital anemia' 'severe congenital hypochromic anemia with ringed sideroblasts' SubClassOf 'inherited deficiency anemia' 'severe congenital hypochromic anemia with ringed sideroblasts' SubClassOf 'anemia, hypochromic microcytic with iron overload' http://purl.obolibrary.org/obo/MONDO_0014097 congenital short bowel syndrome 'congenital short bowel syndrome' SubClassOf 'non-syndromic intestinal malformation' 'congenital short bowel syndrome' SubClassOf 'primary short bowel syndrome' http://www.ebi.ac.uk/efo/EFO_0020937 inherited macular dystrophy 'inherited macular dystrophy' SubClassOf 'inherited retinal dystrophy' http://www.ebi.ac.uk/efo/EFO_0020933 HIV resevoir measurement 'HIV resevoir measurement' SubClassOf 'infectious disease biomarker' http://www.ebi.ac.uk/efo/EFO_0020932 galectin-1 measurement 'galectin-1 measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0020959 free brassicasterol measurement 'free brassicasterol measurement' SubClassOf 'phytosterol measurement' http://www.ebi.ac.uk/efo/EFO_0020955 beta-microseminoprotein measurement 'beta-microseminoprotein measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0020956 pancreatic secretory trypsin inhibitor protein measurement 'pancreatic secretory trypsin inhibitor protein measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0020957 tetranectin measurement 'tetranectin measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0020958 total brassicasterol measurement 'total brassicasterol measurement' SubClassOf 'phytosterol measurement' http://www.ebi.ac.uk/efo/EFO_0020951 apolipoprotein H measurement 'apolipoprotein H measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0020952 dopamine beta-hydroxylase measurement 'dopamine beta-hydroxylase measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0020953 omentin measurement 'omentin measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0020954 pigement epithleium-derived factor (PEDF) measurement 'pigement epithleium-derived factor (PEDF) measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0020950 apolipoprotein C measurement 'apolipoprotein C measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0020948 salicylic acid measurement 'salicylic acid measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0020949 clonal hematopoiesis mutation measurement 'clonal hematopoiesis mutation measurement' EquivalentTo 'measurement' and ('is_about' some 'clonal hematopoiesis') 'clonal hematopoiesis mutation measurement' SubClassOf 'measurement' http://www.ebi.ac.uk/efo/EFO_0020944 cholesteryl esters:total lipids ratio 'cholesteryl esters:total lipids ratio' SubClassOf 'lipid measurement' http://www.ebi.ac.uk/efo/EFO_0020945 free cholesterol:total lipids ratio 'free cholesterol:total lipids ratio' SubClassOf 'lipid measurement' http://www.ebi.ac.uk/efo/EFO_0020946 phospholipids:total lipids ratio 'phospholipids:total lipids ratio' SubClassOf 'lipid measurement' http://www.ebi.ac.uk/efo/EFO_0020947 triglycerides:total lipids ratio 'triglycerides:total lipids ratio' SubClassOf 'lipid measurement' http://www.ebi.ac.uk/efo/EFO_0020940 platelet function test 'platelet function test' SubClassOf 'platelet measurement' http://www.ebi.ac.uk/efo/EFO_0020941 lysophosphatidylcholine 15:0 measurement 'lysophosphatidylcholine 15:0 measurement' SubClassOf 'lysophosphatidylcholine measurement' http://www.ebi.ac.uk/efo/EFO_0020942 propionylcarnitine measurement 'propionylcarnitine measurement' SubClassOf 'cardiovascular disease biomarker measurement' http://www.ebi.ac.uk/efo/EFO_0020943 cholesterol:total lipids ratio 'cholesterol:total lipids ratio' SubClassOf 'lipid measurement' http://www.ebi.ac.uk/efo/EFO_0020970 esterified stigmasterol measurement 'esterified stigmasterol measurement' SubClassOf 'phytosterol measurement' http://www.ebi.ac.uk/efo/EFO_0020966 free sitosterol measurement 'free sitosterol measurement' SubClassOf 'phytosterol measurement' http://www.ebi.ac.uk/efo/EFO_0020967 esterified sitosterol measurement 'esterified sitosterol measurement' SubClassOf 'phytosterol measurement' http://www.ebi.ac.uk/efo/EFO_0020968 total stigmasterol measurement 'total stigmasterol measurement' SubClassOf 'phytosterol measurement' http://www.ebi.ac.uk/efo/EFO_0020969 free stigmasterol measurement 'free stigmasterol measurement' SubClassOf 'phytosterol measurement' http://www.ebi.ac.uk/efo/EFO_0020962 total campesterol measurement 'total campesterol measurement' SubClassOf 'campesterol measurement' http://www.ebi.ac.uk/efo/EFO_0020963 free campesterol measurement 'free campesterol measurement' SubClassOf 'campesterol measurement' http://www.ebi.ac.uk/efo/EFO_0020964 esterified campesterol measurement 'esterified campesterol measurement' SubClassOf 'campesterol measurement' http://purl.obolibrary.org/obo/MONDO_0016719 microcephaly-seizures-intellectual disability-heart disease syndrome 'microcephaly-seizures-intellectual disability-heart disease syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'microcephaly-seizures-intellectual disability-heart disease syndrome' SubClassOf 'syndromic intellectual disability' 'microcephaly-seizures-intellectual disability-heart disease syndrome' SubClassOf 'congenital nervous system disorder' http://www.ebi.ac.uk/efo/EFO_0020965 total sitosterol measurement 'total sitosterol measurement' SubClassOf 'phytosterol measurement' http://www.ebi.ac.uk/efo/EFO_0020960 esterified brassicasterol measurement 'esterified brassicasterol measurement' SubClassOf 'phytosterol measurement' http://www.ebi.ac.uk/efo/EFO_0020961 free lanosterol measurement 'free lanosterol measurement' SubClassOf 'phytosterol measurement' http://purl.obolibrary.org/obo/MONDO_0016501 Hermansky-Pudlak syndrome with pulmonary fibrosis 'Hermansky-Pudlak syndrome with pulmonary fibrosis' SubClassOf 'interstitial lung disease specific to childhood' 'Hermansky-Pudlak syndrome with pulmonary fibrosis' SubClassOf 'Hermansky-Pudlak syndrome' http://purl.obolibrary.org/obo/MONDO_0016502 Hermansky-Pudlak syndrome without pulmonary fibrosis 'Hermansky-Pudlak syndrome without pulmonary fibrosis' SubClassOf 'Hermansky-Pudlak syndrome' http://purl.obolibrary.org/obo/MONDO_0016518 isolated punctate palmoplantar keratoderma 'isolated punctate palmoplantar keratoderma' EquivalentTo 'punctate palmoplantar keratoderma' and ('has modifier' some 'has an isolated presentation') 'isolated punctate palmoplantar keratoderma' SubClassOf 'has modifier' some 'has an isolated presentation' 'isolated punctate palmoplantar keratoderma' SubClassOf 'punctate palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0016514 epidermolysis bullosa simplex with anodontia/hypodontia 'epidermolysis bullosa simplex with anodontia/hypodontia' SubClassOf 'epidermolysis bullosa simplex' http://purl.obolibrary.org/obo/MONDO_0016515 Kallmann syndrome-heart disease syndrome 'Kallmann syndrome-heart disease syndrome' SubClassOf 'congenital hypogonadotropic hypogonadism' 'Kallmann syndrome-heart disease syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0016516 Kenny-Caffey syndrome 'Kenny-Caffey syndrome' SubClassOf 'genetic disorder' 'Kenny-Caffey syndrome' SubClassOf 'syndromic disease' 'Kenny-Caffey syndrome' SubClassOf 'slender bone dysplasia' http://purl.obolibrary.org/obo/MONDO_0016510 epibulbar lipodermoid-preauricular appendage-polythelia syndrome 'epibulbar lipodermoid-preauricular appendage-polythelia syndrome' SubClassOf 'has modifier' some 'rare' 'epibulbar lipodermoid-preauricular appendage-polythelia syndrome' SubClassOf 'branchial arch or oral-acral syndrome' http://purl.obolibrary.org/obo/MONDO_0016512 Kabuki syndrome 'Kabuki syndrome' SubClassOf 'syndromic anorectal malformation' 'Kabuki syndrome' SubClassOf 'syndromic diaphragmatic or thoracic malformation' 'Kabuki syndrome' SubClassOf 'syndromic diaphragmatic or abdominal wall malformation' 'Kabuki syndrome' SubClassOf 'genetic nervous system disorder' 'Kabuki syndrome' SubClassOf 'congenital ectropion' 'Kabuki syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Kabuki syndrome' SubClassOf 'congenital nervous system disorder' 'Kabuki syndrome' SubClassOf 'congenital entropion' 'Kabuki syndrome' SubClassOf 'syndromic intellectual disability' 'Kabuki syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0016513 alpha-thalassemia-related diseases 'alpha-thalassemia-related diseases' SubClassOf 'disease shares features of' some 'alpha thalassemia' 'alpha-thalassemia-related diseases' SubClassOf 'alpha-thalassemia and related diseases' http://purl.obolibrary.org/obo/MONDO_0016529 duplication of urethra 'duplication of urethra' SubClassOf 'non-syndromic urogenital tract malformation of male and female' 'duplication of urethra' SubClassOf 'non-syndromic renal or urinary tract malformation' http://purl.obolibrary.org/obo/MONDO_0016525 familial hyperaldosteronism 'familial hyperaldosteronism' SubClassOf 'has modifier' some 'rare' 'familial hyperaldosteronism' SubClassOf 'primary aldosteronism' 'familial hyperaldosteronism' SubClassOf 'hyperaldosteronism' 'familial hyperaldosteronism' EquivalentTo 'hyperaldosteronism' and ('has modifier' some 'inherited') 'familial hyperaldosteronism' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0016526 trisomy 9p 'trisomy 9p' SubClassOf 'syndrome caused by partial chromosomal duplication of the short arm of chromosome 9' http://purl.obolibrary.org/obo/MONDO_0016527 glycogen storage disease due to lactate dehydrogenase deficiency 'glycogen storage disease due to lactate dehydrogenase deficiency' SubClassOf 'glycogen storage disease' http://purl.obolibrary.org/obo/MONDO_0016521 muscular pseudohypertrophy-hypothyroidism syndrome 'muscular pseudohypertrophy-hypothyroidism syndrome' SubClassOf 'syndromic hypothyroidism' http://purl.obolibrary.org/obo/MONDO_0016524 congenital vascular bone syndrome 'congenital vascular bone syndrome' SubClassOf 'bone disease' 'congenital vascular bone syndrome' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016520 isolated Klippel-Feil syndrome 'isolated Klippel-Feil syndrome' EquivalentTo 'Klippel-Feil syndrome' and ('has modifier' some 'has an isolated presentation') 'isolated Klippel-Feil syndrome' SubClassOf 'has modifier' some 'has an isolated presentation' 'isolated Klippel-Feil syndrome' SubClassOf 'Klippel-Feil syndrome' http://purl.obolibrary.org/obo/MONDO_0016536 autosomal recessive lymphoproliferative disease 'autosomal recessive lymphoproliferative disease' SubClassOf 'lymphoproliferative syndrome' 'autosomal recessive lymphoproliferative disease' SubClassOf 'non-SCID combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0016537 lymphoproliferative syndrome 'lymphoproliferative syndrome' SubClassOf 'hereditary neoplastic syndrome' 'lymphoproliferative syndrome' SubClassOf 'inborn errors of immunity' http://purl.obolibrary.org/obo/MONDO_0016539 atypical hypotonia-cystinuria syndrome 'atypical hypotonia-cystinuria syndrome' SubClassOf 'hypotonia-cystinuria syndrome' http://purl.obolibrary.org/obo/MONDO_0016532 Lennox-Gastaut syndrome 'Lennox-Gastaut syndrome' SubClassOf 'childhood-onset epilepsy syndrome' 'Lennox-Gastaut syndrome' SubClassOf 'syndromic disease' 'Lennox-Gastaut syndrome' SubClassOf 'childhood electroclinical syndrome' http://purl.obolibrary.org/obo/MONDO_0016533 apolipoprotein A-II amyloidosis 'apolipoprotein A-II amyloidosis' SubClassOf 'familial visceral amyloidosis' http://purl.obolibrary.org/obo/MONDO_0016535 hypohidrotic ectodermal dysplasia 'hypohidrotic ectodermal dysplasia' SubClassOf 'disorder of development or morphogenesis' 'hypohidrotic ectodermal dysplasia' SubClassOf 'congenital alacrima' 'hypohidrotic ectodermal dysplasia' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0016531 digestive duplication 'digestive duplication' SubClassOf 'non-syndromic intestinal malformation' http://purl.obolibrary.org/obo/MONDO_0016547 Beckwith-Wiedemann syndrome due to NSD1 mutation 'Beckwith-Wiedemann syndrome due to NSD1 mutation' SubClassOf 'Beckwith-Wiedemann syndrome' http://purl.obolibrary.org/obo/MONDO_0016549 primary megaureter, adult-onset form 'primary megaureter, adult-onset form' SubClassOf 'congenital primary megaureter' http://purl.obolibrary.org/obo/MONDO_0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency 'hyperphenylalaninemia due to tetrahydrobiopterin deficiency' SubClassOf 'autosomal recessive disease' 'hyperphenylalaninemia due to tetrahydrobiopterin deficiency' SubClassOf 'disease shares features of' some 'phenylketonuria' 'hyperphenylalaninemia due to tetrahydrobiopterin deficiency' SubClassOf 'disorder of pterin metabolism' http://purl.obolibrary.org/obo/MONDO_0016545 leukoencephalopathy-palmoplantar keratoderma syndrome 'leukoencephalopathy-palmoplantar keratoderma syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0016540 congenital secondary polycythemia 'congenital secondary polycythemia' SubClassOf 'congenital hematological disorder' 'congenital secondary polycythemia' SubClassOf 'secondary polycythemia' http://purl.obolibrary.org/obo/MONDO_0016558 familial congenital mirror movements 'familial congenital mirror movements' SubClassOf 'congenital nervous system disorder' 'familial congenital mirror movements' SubClassOf 'genetic nervous system disorder' 'familial congenital mirror movements' SubClassOf 'movement disorder' http://purl.obolibrary.org/obo/MONDO_0016559 glaucoma secondary to spherophakia/ectopia lentis and megalocornea 'glaucoma secondary to spherophakia/ectopia lentis and megalocornea' SubClassOf 'microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma' 'glaucoma secondary to spherophakia/ectopia lentis and megalocornea' SubClassOf 'hereditary glaucoma' http://purl.obolibrary.org/obo/MONDO_0016557 leukonychia totalis 'leukonychia totalis' SubClassOf 'inherited isolated nail anomaly' http://purl.obolibrary.org/obo/MONDO_0016550 congenital primary megaureter, obstructed form 'congenital primary megaureter, obstructed form' SubClassOf 'has modifier' some 'congenital' 'congenital primary megaureter, obstructed form' SubClassOf 'congenital primary megaureter' http://purl.obolibrary.org/obo/MONDO_0016551 congenital primary megaureter, refluxing form 'congenital primary megaureter, refluxing form' SubClassOf 'congenital primary megaureter' 'congenital primary megaureter, refluxing form' SubClassOf 'has modifier' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0016552 congenital primary megaureter, nonrefluxing and unobstructed form 'congenital primary megaureter, nonrefluxing and unobstructed form' SubClassOf 'congenital primary megaureter' http://purl.obolibrary.org/obo/MONDO_0016553 isolated congenital hypogonadotropic hypogonadism 'isolated congenital hypogonadotropic hypogonadism' SubClassOf 'has modifier' some 'congenital' 'isolated congenital hypogonadotropic hypogonadism' SubClassOf 'non-syndromic male infertility due to sperm motility disorder' 'isolated congenital hypogonadotropic hypogonadism' EquivalentTo 'congenital hypogonadotropic hypogonadism' and ('has modifier' some 'has an isolated presentation') 'isolated congenital hypogonadotropic hypogonadism' SubClassOf 'congenital hypogonadotropic hypogonadism' http://purl.obolibrary.org/obo/MONDO_0016565 syndromic genetic obesity 'syndromic genetic obesity' SubClassOf 'inherited obesity' 'syndromic genetic obesity' EquivalentTo 'inherited obesity' and ('has modifier' some 'has a syndromic presentation') 'syndromic genetic obesity' SubClassOf 'overgrowth/obesity syndrome' 'syndromic genetic obesity' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0016568 Lowe-Kohn-Cohen syndrome 'Lowe-Kohn-Cohen syndrome' SubClassOf 'syndromic genetic hearing loss' 'Lowe-Kohn-Cohen syndrome' SubClassOf 'syndromic anorectal malformation' http://purl.obolibrary.org/obo/MONDO_0016561 1q44 microdeletion syndrome '1q44 microdeletion syndrome' SubClassOf 'chromosome 1q deletion' http://purl.obolibrary.org/obo/MONDO_0016562 progressive supranuclear palsy-pure akinesia with gait freezing syndrome 'progressive supranuclear palsy-pure akinesia with gait freezing syndrome' SubClassOf 'atypical progressive supranuclear palsy syndrome' http://purl.obolibrary.org/obo/MONDO_0016563 progressive supranuclear palsy-corticobasal syndrome 'progressive supranuclear palsy-corticobasal syndrome' SubClassOf 'atypical progressive supranuclear palsy syndrome' http://purl.obolibrary.org/obo/MONDO_0016564 progressive supranuclear palsy-progressive non-fluent aphasia syndrome 'progressive supranuclear palsy-progressive non-fluent aphasia syndrome' SubClassOf 'atypical progressive supranuclear palsy syndrome' 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' 'ptosis-syndactyly-learning difficulties syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0016576 split hand-foot malformation 'split hand-foot malformation' SubClassOf 'dysostosis of genetic origin' 'split hand-foot malformation' SubClassOf 'split hand or/and split foot malformation' http://purl.obolibrary.org/obo/MONDO_0016579 dominant hypophosphatemia with nephrolithiasis or osteoporosis 'dominant hypophosphatemia with nephrolithiasis or osteoporosis' SubClassOf 'inherited renal tubular disease' http://purl.obolibrary.org/obo/MONDO_0016572 central bilateral macrogyria 'central bilateral macrogyria' SubClassOf 'cerebral cortical dysplasia' http://purl.obolibrary.org/obo/MONDO_0016574 hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome 'hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome' SubClassOf 'skin pigmentation disorder' 'hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome' SubClassOf 'pigmentation disease' http://purl.obolibrary.org/obo/MONDO_0016575 primary ciliary dyskinesia 'primary ciliary dyskinesia' SubClassOf 'respiratory system disease' 'primary ciliary dyskinesia' SubClassOf 'has modifier' some 'rare' 'primary ciliary dyskinesia' SubClassOf 'syndromic disease' 'primary ciliary dyskinesia' SubClassOf 'ciliopathy' http://purl.obolibrary.org/obo/MONDO_0016571 macrocephaly-short stature-paraplegia syndrome 'macrocephaly-short stature-paraplegia syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'macrocephaly-short stature-paraplegia syndrome' SubClassOf 'congenital nervous system disorder' 'macrocephaly-short stature-paraplegia syndrome' SubClassOf 'central nervous system malformation' 'macrocephaly-short stature-paraplegia syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0016587 arrhythmogenic right ventricular cardiomyopathy 'arrhythmogenic right ventricular cardiomyopathy' SubClassOf 'intrinsic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0016589 progressive cerebello-cerebral atrophy 'progressive cerebello-cerebral atrophy' SubClassOf 'disorder of development or morphogenesis' 'progressive cerebello-cerebral atrophy' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0016583 familial intestinal malrotation-facial anomalies syndrome 'familial intestinal malrotation-facial anomalies syndrome' SubClassOf 'syndromic intestinal malformation' 'familial intestinal malrotation-facial anomalies syndrome' SubClassOf 'volvulus of midgut' http://purl.obolibrary.org/obo/MONDO_0016584 mandibuloacral dysplasia 'mandibuloacral dysplasia' SubClassOf 'primary osteolysis' 'mandibuloacral dysplasia' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'mandibuloacral dysplasia' SubClassOf 'developmental anomaly of metabolic origin' 'mandibuloacral dysplasia' SubClassOf 'genetic lipodystrophy' 'mandibuloacral dysplasia' SubClassOf 'progeroid syndrome' http://purl.obolibrary.org/obo/MONDO_0016581 conotruncal heart malformations 'conotruncal heart malformations' SubClassOf 'transposition of the great arteries and conotruncal cardiac anomaly' http://purl.obolibrary.org/obo/MONDO_0016598 autosomal recessive secondary polycythemia not associated with VHL gene 'autosomal recessive secondary polycythemia not associated with VHL gene' SubClassOf 'congenital secondary polycythemia' http://purl.obolibrary.org/obo/MONDO_0016599 autosomal dominant secondary polycythemia 'autosomal dominant secondary polycythemia' SubClassOf 'congenital secondary polycythemia' 'autosomal dominant secondary polycythemia' SubClassOf 'autosomal dominant disease' 'autosomal dominant secondary polycythemia' SubClassOf 'familial polycythemia' http://purl.obolibrary.org/obo/MONDO_0016596 hyperphosphatasia-intellectual disability syndrome 'hyperphosphatasia-intellectual disability syndrome' SubClassOf 'genetic nervous system disorder' 'hyperphosphatasia-intellectual disability syndrome' SubClassOf 'dysostosis of genetic origin' 'hyperphosphatasia-intellectual disability syndrome' SubClassOf 'syndromic dyslipidemia' 'hyperphosphatasia-intellectual disability syndrome' SubClassOf 'inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' 'hyperphosphatasia-intellectual disability syndrome' SubClassOf 'congenital limb malformation' 'hyperphosphatasia-intellectual disability syndrome' SubClassOf 'congenital disorder of glycosylation-related bone disorder' 'hyperphosphatasia-intellectual disability syndrome' SubClassOf 'congenital nervous system disorder' 'hyperphosphatasia-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0016597 obsolete generalized pustular psoriasis 'obsolete generalized pustular psoriasis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0100354 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 'megacystis-microcolon-intestinal hypoperistalsis syndrome 1' SubClassOf 'megacystis-microcolon-intestinal hypoperistalsis syndrome' http://purl.obolibrary.org/obo/MONDO_0016606 obsolete prenatal benign hypophosphatasia 'obsolete prenatal benign hypophosphatasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0016607 odontohypophosphatasia 'odontohypophosphatasia' SubClassOf 'hypophosphatasia' http://purl.obolibrary.org/obo/MONDO_0016602 citrin deficiency 'citrin deficiency' SubClassOf 'citrullinemia' http://purl.obolibrary.org/obo/MONDO_0016603 citrullinemia type II 'citrullinemia type II' SubClassOf 'citrin deficiency' http://purl.obolibrary.org/obo/MONDO_0016604 dysraphism-cleft lip/palate-limb reduction defects syndrome 'dysraphism-cleft lip/palate-limb reduction defects syndrome' SubClassOf 'orofacial clefting syndrome' http://purl.obolibrary.org/obo/MONDO_0016605 perinatal lethal hypophosphatasia 'perinatal lethal hypophosphatasia' SubClassOf 'hypophosphatasia' http://purl.obolibrary.org/obo/MONDO_0016600 acute neonatal citrullinemia type I 'acute neonatal citrullinemia type I' SubClassOf 'citrullinemia type I' 'acute neonatal citrullinemia type I' SubClassOf 'acute disease' http://purl.obolibrary.org/obo/MONDO_0016601 adult-onset citrullinemia type I 'adult-onset citrullinemia type I' SubClassOf 'citrullinemia type I' http://purl.obolibrary.org/obo/MONDO_0016619 autosomal recessive hypohidrotic ectodermal dysplasia 'autosomal recessive hypohidrotic ectodermal dysplasia' SubClassOf 'autosomal recessive disease' 'autosomal recessive hypohidrotic ectodermal dysplasia' SubClassOf 'hypohidrotic ectodermal dysplasia' http://purl.obolibrary.org/obo/MONDO_0016613 APC-related attenuated familial adenomatous polyposis 'APC-related attenuated familial adenomatous polyposis' SubClassOf 'attenuated familial adenomatous polyposis' http://purl.obolibrary.org/obo/MONDO_0016614 autosomal recessive ataxia due to PEX10 deficiency 'autosomal recessive ataxia due to PEX10 deficiency' SubClassOf 'autosomal recessive metabolic cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0016612 X-linked cerebellar ataxia 'X-linked cerebellar ataxia' SubClassOf 'X-linked disease' 'X-linked cerebellar ataxia' SubClassOf 'hereditary cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0016408 permanent congenital hypothyroidism 'permanent congenital hypothyroidism' SubClassOf 'genetic endocrine growth disease' 'permanent congenital hypothyroidism' SubClassOf 'congenital hypothyroidism' http://purl.obolibrary.org/obo/MONDO_0016409 primary congenital hypothyroidism 'primary congenital hypothyroidism' SubClassOf 'permanent congenital hypothyroidism' http://purl.obolibrary.org/obo/MONDO_0016419 hereditary breast carcinoma 'hereditary breast carcinoma' SubClassOf 'breast carcinoma' 'hereditary breast carcinoma' SubClassOf 'genetic disorder' 'hereditary breast carcinoma' EquivalentTo 'breast carcinoma' and ('has modifier' some 'inherited') 'hereditary breast carcinoma' SubClassOf 'disease has feature' some 'breast carcinoma' http://purl.obolibrary.org/obo/MONDO_0016417 congenital ichthyosis-microcephalus-tetraplegia syndrome 'congenital ichthyosis-microcephalus-tetraplegia syndrome' SubClassOf 'has modifier' some 'congenital' 'congenital ichthyosis-microcephalus-tetraplegia syndrome' SubClassOf 'autosomal ichthyosis syndrome' http://purl.obolibrary.org/obo/MONDO_0016411 hypothyroidism due to deficient transcription factors involved in pituitary development or function 'hypothyroidism due to deficient transcription factors involved in pituitary development or function' SubClassOf 'central congenital hypothyroidism' http://purl.obolibrary.org/obo/MONDO_0016412 peripheral hypothyroidism 'peripheral hypothyroidism' SubClassOf 'permanent congenital hypothyroidism' 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 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016410 central congenital hypothyroidism 'central congenital hypothyroidism' SubClassOf 'permanent congenital hypothyroidism' http://purl.obolibrary.org/obo/MONDO_0016424 progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome 'progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome' SubClassOf 'syndromic genetic hearing loss' 'progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome' SubClassOf 'familial hypertrophic cardiomyopathy' 'progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome' SubClassOf 'genetic cardiac rhythm disease' http://purl.obolibrary.org/obo/MONDO_0016420 familial flecked retinopathy 'familial flecked retinopathy' SubClassOf 'genetic macular dystrophy' 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 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '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' 'dysmorphism-short stature-deafness-disorder of sex development syndrome' SubClassOf '46,XY disorder of sex development' http://purl.obolibrary.org/obo/MONDO_0016431 autosomal dominant Charcot-Marie-Tooth disease type 2M 'autosomal dominant Charcot-Marie-Tooth disease type 2M' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'autosomal dominant Charcot-Marie-Tooth disease type 2M' SubClassOf 'Charcot-Marie-Tooth disease dominant intermediate B' http://purl.obolibrary.org/obo/MONDO_0016432 heart-hand syndrome 'heart-hand syndrome' SubClassOf 'dysostosis of genetic origin' 'heart-hand syndrome' SubClassOf 'congenital limb malformation' http://purl.obolibrary.org/obo/MONDO_0016445 familial anetoderma 'familial anetoderma' SubClassOf 'dermis elastic tissue disorder' http://purl.obolibrary.org/obo/MONDO_0016459 2q23.1 microdeletion syndrome '2q23.1 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 2' http://purl.obolibrary.org/obo/MONDO_0016456 5q14.3 microdeletion syndrome '5q14.3 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 5' '5q14.3 microdeletion syndrome' SubClassOf 'genetic nervous system disorder' '5q14.3 microdeletion syndrome' SubClassOf 'epilepsy' '5q14.3 microdeletion syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '5q14.3 microdeletion syndrome' SubClassOf 'syndromic disease' '5q14.3 microdeletion syndrome' SubClassOf 'congenital nervous system disorder' '5q14.3 microdeletion syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0016457 ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome 'ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome' SubClassOf 'excretory apparatus of the lacrimal system anomaly' 'ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome' SubClassOf 'eyelids malposition disorder' http://purl.obolibrary.org/obo/MONDO_0016458 8q12 microduplication syndrome '8q12 microduplication syndrome' SubClassOf 'partial duplication of the long arm of chromosome 8' http://purl.obolibrary.org/obo/MONDO_0016454 severe early-onset axonal neuropathy due to NEFL deficiency 'severe early-onset axonal neuropathy due to NEFL deficiency' SubClassOf 'autosomal recessive axonal hereditary motor and sensory neuropathy' http://purl.obolibrary.org/obo/MONDO_0100296 Olmsted syndrome 1 'Olmsted syndrome 1' SubClassOf 'Olmsted syndrome' http://purl.obolibrary.org/obo/MONDO_0016469 Ehlers-Danlos syndrome, vascular-like type 'Ehlers-Danlos syndrome, vascular-like type' SubClassOf 'vascular disease' 'Ehlers-Danlos syndrome, vascular-like type' SubClassOf 'has modifier' some 'rare' 'Ehlers-Danlos syndrome, vascular-like type' SubClassOf 'Ehlers-Danlos syndrome' http://purl.obolibrary.org/obo/MONDO_0016462 isolated agammaglobulinemia 'isolated agammaglobulinemia' SubClassOf 'agammaglobulinemia' 'isolated agammaglobulinemia' SubClassOf 'has modifier' some 'has an isolated presentation' 'isolated agammaglobulinemia' EquivalentTo 'agammaglobulinemia' and ('has modifier' some 'has an isolated presentation') http://purl.obolibrary.org/obo/MONDO_0016463 syndromic agammaglobulinemia 'syndromic agammaglobulinemia' EquivalentTo 'agammaglobulinemia' and ('has modifier' some 'has a syndromic presentation') 'syndromic agammaglobulinemia' SubClassOf 'syndromic disease' 'syndromic agammaglobulinemia' SubClassOf 'agammaglobulinemia' http://purl.obolibrary.org/obo/MONDO_0016464 insulin-resistance syndrome type B 'insulin-resistance syndrome type B' SubClassOf 'diabetes mellitus' http://purl.obolibrary.org/obo/MONDO_0016460 polyvalvular heart disease syndrome 'polyvalvular heart disease syndrome' SubClassOf 'heart disease' 'polyvalvular heart disease syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0016461 5q35 microduplication syndrome '5q35 microduplication syndrome' SubClassOf 'partial trisomy of the long arm of chromosome 5' http://purl.obolibrary.org/obo/MONDO_0016477 Beckwith-Wiedemann syndrome due to 11p15 microdeletion 'Beckwith-Wiedemann syndrome due to 11p15 microdeletion' SubClassOf 'partial deletion of the short arm of chromosome 11' 'Beckwith-Wiedemann syndrome due to 11p15 microdeletion' SubClassOf 'Beckwith-Wiedemann syndrome' http://purl.obolibrary.org/obo/MONDO_0016478 Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion 'Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion' SubClassOf 'Beckwith-Wiedemann syndrome' http://purl.obolibrary.org/obo/MONDO_0016479 silver-Russell syndrome due to 7p11.2p13 microduplication 'silver-Russell syndrome due to 7p11.2p13 microduplication' SubClassOf 'partial duplication of the short arm of chromosome 7' 'silver-Russell syndrome due to 7p11.2p13 microduplication' SubClassOf 'Silver-Russell syndrome' http://purl.obolibrary.org/obo/MONDO_0016473 familial rhabdoid tumor 'familial rhabdoid tumor' SubClassOf 'malignant rhabdoid tumour' 'familial rhabdoid tumor' EquivalentTo 'hereditary neoplastic syndrome' and ('disease has feature' some 'malignant rhabdoid tumour') 'familial rhabdoid tumor' SubClassOf 'inherited soft tissue tumor' 'familial rhabdoid tumor' SubClassOf 'hereditary neoplastic syndrome' 'familial rhabdoid tumor' SubClassOf 'disease has feature' some 'malignant rhabdoid tumour' http://purl.obolibrary.org/obo/MONDO_0016475 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 'Beckwith-Wiedemann syndrome due to imprinting defect of 11p15' SubClassOf 'Beckwith-Wiedemann syndrome' http://purl.obolibrary.org/obo/MONDO_0016476 Beckwith-Wiedemann syndrome due to CDKN1C mutation 'Beckwith-Wiedemann syndrome due to CDKN1C mutation' SubClassOf 'Beckwith-Wiedemann syndrome' http://purl.obolibrary.org/obo/MONDO_0016470 Ehlers-Danlos/osteogenesis imperfecta syndrome 'Ehlers-Danlos/osteogenesis imperfecta syndrome' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos/osteogenesis imperfecta syndrome' SubClassOf 'disease has feature' some 'osteogenesis imperfecta' http://purl.obolibrary.org/obo/MONDO_0016471 pachyonychia congenita 'pachyonychia congenita' SubClassOf 'focal palmoplantar keratoderma' 'pachyonychia congenita' SubClassOf 'syndromic nail anomaly' http://purl.obolibrary.org/obo/MONDO_0016490 hemoglobin C-beta-thalassemia syndrome 'hemoglobin C-beta-thalassemia syndrome' SubClassOf 'beta-thalassemia and related diseases' http://purl.obolibrary.org/obo/MONDO_0016489 delta-beta-thalassemia 'delta-beta-thalassemia' SubClassOf 'beta-thalassemia and related diseases' http://purl.obolibrary.org/obo/MONDO_0016484 Usher syndrome type 2 'Usher syndrome type 2' SubClassOf 'Usher syndrome' http://purl.obolibrary.org/obo/MONDO_0016485 Usher syndrome type 3 'Usher syndrome type 3' SubClassOf 'Usher syndrome' http://purl.obolibrary.org/obo/MONDO_0016486 beta-thalassemia major 'beta-thalassemia major' SubClassOf 'beta-thalassemia HBB/LCRB' http://purl.obolibrary.org/obo/MONDO_0016487 beta-thalassemia intermedia 'beta-thalassemia intermedia' SubClassOf 'beta-thalassemia HBB/LCRB' http://purl.obolibrary.org/obo/MONDO_0016480 silver-Russell syndrome due to an imprinting defect of 11p15 'silver-Russell syndrome due to an imprinting defect of 11p15' SubClassOf 'Silver-Russell syndrome' http://purl.obolibrary.org/obo/MONDO_0016481 silver-Russell syndrome due to 11p15 microduplication 'silver-Russell syndrome due to 11p15 microduplication' SubClassOf 'partial duplication of the short arm of chromosome 11' 'silver-Russell syndrome due to 11p15 microduplication' SubClassOf 'Silver-Russell syndrome' http://purl.obolibrary.org/obo/MONDO_0016482 silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 'silver-Russell syndrome due to maternal uniparental disomy of chromosome 11' SubClassOf 'chromosome 11 disorder' 'silver-Russell syndrome due to maternal uniparental disomy of chromosome 11' SubClassOf 'Silver-Russell syndrome' 'silver-Russell syndrome due to maternal uniparental disomy of chromosome 11' SubClassOf 'uniparental disomy' http://purl.obolibrary.org/obo/MONDO_0016483 intracranial berry aneurysm 'intracranial berry aneurysm' SubClassOf 'neurovascular malformation' 'intracranial berry aneurysm' SubClassOf 'genetic central nervous system and retinal vascular disease' 'intracranial berry aneurysm' SubClassOf 'brain aneurysm' http://purl.obolibrary.org/obo/MONDO_0100289 Goldmann-Favre syndrome 'Goldmann-Favre syndrome' SubClassOf 'vitreoretinal degeneration' http://purl.obolibrary.org/obo/MONDO_0016491 hemoglobin E-beta-thalassemia syndrome 'hemoglobin E-beta-thalassemia syndrome' SubClassOf 'beta-thalassemia and related diseases' http://purl.obolibrary.org/obo/MONDO_0100243 inherited paroxysmal nocturnal hemoglobinuria 'inherited paroxysmal nocturnal hemoglobinuria' SubClassOf 'congenital disorder of glycosylation' 'inherited paroxysmal nocturnal hemoglobinuria' EquivalentTo 'paroxysmal nocturnal hemoglobinuria' and ('has modifier' some 'inherited') 'inherited paroxysmal nocturnal hemoglobinuria' SubClassOf 'congenital anemia' 'inherited paroxysmal nocturnal hemoglobinuria' SubClassOf 'paroxysmal nocturnal hemoglobinuria' 'inherited paroxysmal nocturnal hemoglobinuria' SubClassOf 'familial hemolytic anemia' 'inherited paroxysmal nocturnal hemoglobinuria' SubClassOf 'inherited lipid metabolism disorder' http://purl.obolibrary.org/obo/MONDO_0100244 paroxysmal nocturnal hemoglobinuria 'paroxysmal nocturnal hemoglobinuria' SubClassOf 'normocytic anemia' 'paroxysmal nocturnal hemoglobinuria' SubClassOf 'hemoglobinuria' 'paroxysmal nocturnal hemoglobinuria' SubClassOf 'disorder of GPI anchor biosynthesis' http://purl.obolibrary.org/obo/MONDO_0100245 acquired paroxysmal nocturnal hemoglobinuria 'acquired paroxysmal nocturnal hemoglobinuria' SubClassOf 'has modifier' some 'acquired' 'acquired paroxysmal nocturnal hemoglobinuria' EquivalentTo 'paroxysmal nocturnal hemoglobinuria' and ('has modifier' some 'acquired') 'acquired paroxysmal nocturnal hemoglobinuria' SubClassOf 'acquired metabolic disease' 'acquired paroxysmal nocturnal hemoglobinuria' SubClassOf 'paroxysmal nocturnal hemoglobinuria' 'acquired paroxysmal nocturnal hemoglobinuria' SubClassOf 'aplastic anemia' http://purl.obolibrary.org/obo/MONDO_0100249 46,XX testicular disorder of sex development '46,XX testicular disorder of sex development' SubClassOf 'male infertility' '46,XX testicular disorder of sex development' SubClassOf 'has modifier' some 'rare' '46,XX testicular disorder of sex development' SubClassOf 'difference of sexual differentiation' http://purl.obolibrary.org/obo/MONDO_0100339 Friedreich ataxia 'Friedreich ataxia' SubClassOf 'neurometabolic disease' 'Friedreich ataxia' SubClassOf 'familial hypertrophic cardiomyopathy' 'Friedreich ataxia' SubClassOf 'autosomal recessive degenerative and progressive cerebellar ataxia' 'Friedreich ataxia' SubClassOf 'neuro-ophthalmological disease' http://purl.obolibrary.org/obo/MONDO_0100325 odontochondrodysplasia 1 'odontochondrodysplasia 1' SubClassOf 'odontochondrodysplasia' http://purl.obolibrary.org/obo/MONDO_0100326 Glanzmann thrombasthenia 'Glanzmann thrombasthenia' SubClassOf 'inherited blood coagulation disorder' 'Glanzmann thrombasthenia' SubClassOf 'inherited bleeding disorder, platelet-type' http://purl.obolibrary.org/obo/MONDO_0100327 hypercholanemia, familial 'hypercholanemia, familial' SubClassOf 'inborn disorder of bile acid synthesis' http://purl.obolibrary.org/obo/MONDO_0100328 microcephaly, epilepsy, and diabetes syndrome 'microcephaly, epilepsy, and diabetes syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0018924 microphthalmia, Lenz type 'microphthalmia, Lenz type' SubClassOf 'lens shape anomaly' 'microphthalmia, Lenz type' SubClassOf 'syndromic microphthalmia' 'microphthalmia, Lenz type' SubClassOf 'X-linked syndromic intellectual disability' 'microphthalmia, Lenz type' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0018923 22q11.2 deletion syndrome '22q11.2 deletion syndrome' SubClassOf 'genetic syndromic Pierre Robin syndrome' '22q11.2 deletion syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' '22q11.2 deletion syndrome' SubClassOf 'primary immunodeficiency due to a defect in adaptive immunity' '22q11.2 deletion syndrome' SubClassOf 'genetic otorhinolaryngologic disease' '22q11.2 deletion syndrome' SubClassOf 'syndromic anorectal malformation' '22q11.2 deletion syndrome' SubClassOf 'heart disease' '22q11.2 deletion syndrome' SubClassOf 'syndromic renal or urinary tract malformation' '22q11.2 deletion syndrome' SubClassOf 'syndromic genetic hearing loss' '22q11.2 deletion syndrome' SubClassOf 'syndromic urogenital tract malformation' '22q11.2 deletion syndrome' SubClassOf 'chromosome 22q deletion' '22q11.2 deletion syndrome' SubClassOf 'branchial arch or oral-acral syndrome' http://purl.obolibrary.org/obo/MONDO_0018925 familial or sporadic hemiplegic migraine 'familial or sporadic hemiplegic migraine' SubClassOf 'migraine with aura' 'familial or sporadic hemiplegic migraine' SubClassOf 'disorder of central nervous system or retinal vasculature' http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome 'Meckel syndrome' SubClassOf 'syndromic disease' 'Meckel syndrome' SubClassOf 'ciliopathy' 'Meckel syndrome' SubClassOf 'genetic lethal multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0018939 muscle-eye-brain disease 'muscle-eye-brain disease' SubClassOf 'cobblestone lissencephaly' 'muscle-eye-brain disease' SubClassOf 'developmental anomaly of metabolic origin' 'muscle-eye-brain disease' SubClassOf 'muscular dystrophy-dystroglycanopathy' 'muscle-eye-brain disease' SubClassOf 'neurometabolic disease' 'muscle-eye-brain disease' SubClassOf 'qualitative or quantitative defects of protein O-mannosyltransferase 2' 'muscle-eye-brain disease' SubClassOf 'myopathy caused by variation in FKRP' 'muscle-eye-brain disease' SubClassOf 'myopathy caused by variation in POMGNT1' 'muscle-eye-brain disease' SubClassOf 'syndromic myopia' 'muscle-eye-brain disease' SubClassOf 'disorder of O-mannosylglycan synthesis' http://purl.obolibrary.org/obo/MONDO_0018938 mucopolysaccharidosis type 4 'mucopolysaccharidosis type 4' SubClassOf 'syndromic disease' 'mucopolysaccharidosis type 4' SubClassOf 'bone disease' 'mucopolysaccharidosis type 4' SubClassOf 'mucopolysaccharidosis' 'mucopolysaccharidosis type 4' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018937 mucopolysaccharidosis type 3 'mucopolysaccharidosis type 3' SubClassOf 'syndromic disease' 'mucopolysaccharidosis type 3' SubClassOf 'mucopolysaccharidosis' 'mucopolysaccharidosis type 3' SubClassOf 'neurometabolic disease' 'mucopolysaccharidosis type 3' SubClassOf 'bone disease' http://purl.obolibrary.org/obo/MONDO_0018931 mucolipidosis type III 'mucolipidosis type III' SubClassOf 'has modifier' some 'rare' 'mucolipidosis type III' SubClassOf 'bone disease' 'mucolipidosis type III' SubClassOf 'mucolipidosis' http://purl.obolibrary.org/obo/MONDO_0018930 monosomy 21 'monosomy 21' SubClassOf 'chromosome 21 disorder' http://purl.obolibrary.org/obo/MONDO_0018933 Mazabraud syndrome 'Mazabraud syndrome' SubClassOf 'Soft Tissue Neoplasm' 'Mazabraud syndrome' SubClassOf 'inherited soft tissue tumor' http://purl.obolibrary.org/obo/MONDO_0018949 distal myopathy 'distal myopathy' SubClassOf 'muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0018945 McLeod neuroacanthocytosis syndrome 'McLeod neuroacanthocytosis syndrome' SubClassOf 'familial hemolytic anemia' 'McLeod neuroacanthocytosis syndrome' SubClassOf 'neurometabolic disease' 'McLeod neuroacanthocytosis syndrome' SubClassOf 'neuroacanthocytosis' http://purl.obolibrary.org/obo/MONDO_0018948 multiminicore myopathy 'multiminicore myopathy' SubClassOf 'qualitative or quantitative defects of selenoprotein N1' 'multiminicore myopathy' SubClassOf 'congenital myopathy with cores' 'multiminicore myopathy' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0018947 centronuclear myopathy 'centronuclear myopathy' SubClassOf 'congenital myopathy' 'centronuclear myopathy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0018944 gestational trophoblastic neoplasm 'gestational trophoblastic neoplasm' EquivalentTo 'trophoblastic neoplasm' and 'gestational trophoblastic disease' 'gestational trophoblastic neoplasm' SubClassOf 'gestational trophoblastic disease' 'gestational trophoblastic neoplasm' SubClassOf 'trophoblastic neoplasm' http://purl.obolibrary.org/obo/MONDO_0018943 myofibrillar myopathy 'myofibrillar myopathy' SubClassOf 'congenital structural myopathy' 'myofibrillar myopathy' SubClassOf 'non-dystrophic myopathy' 'myofibrillar myopathy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0018940 congenital myasthenic syndrome 'congenital myasthenic syndrome' SubClassOf 'neuromuscular junction disease' 'congenital myasthenic syndrome' SubClassOf 'syndromic disease' 'congenital myasthenic syndrome' SubClassOf 'eyelids malposition disorder' 'congenital myasthenic syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0018959 potassium-aggravated myotonia 'potassium-aggravated myotonia' SubClassOf 'muscular channelopathy' 'potassium-aggravated myotonia' SubClassOf 'myotonic syndrome' http://purl.obolibrary.org/obo/MONDO_0018958 nemaline myopathy 'nemaline myopathy' SubClassOf 'congenital structural myopathy' 'nemaline myopathy' SubClassOf 'non-dystrophic myopathy' 'nemaline myopathy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0018953 parietal foramina 'parietal foramina' SubClassOf 'primary bone dysplasia' 'parietal foramina' SubClassOf 'cranial malformation' 'parietal foramina' SubClassOf 'genetic nervous system disorder' 'parietal foramina' SubClassOf 'neural tube defect' http://purl.obolibrary.org/obo/MONDO_0018954 Loeys-Dietz syndrome 'Loeys-Dietz syndrome' SubClassOf 'has modifier' some 'rare' 'Loeys-Dietz syndrome' SubClassOf 'syndromic disease' 'Loeys-Dietz syndrome' SubClassOf 'Marfan and Marfan-related disorder' 'Loeys-Dietz syndrome' SubClassOf 'vascular disease' 'Loeys-Dietz syndrome' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0018951 distal myopathy with vocal cord weakness 'distal myopathy with vocal cord weakness' SubClassOf 'autosomal dominant distal myopathy' http://purl.obolibrary.org/obo/MONDO_0018950 3-methylcrotonyl-CoA carboxylase deficiency '3-methylcrotonyl-CoA carboxylase deficiency' SubClassOf 'classic organic aciduria' http://purl.obolibrary.org/obo/MONDO_0016309 Niemann-Pick disease type C, juvenile neurologic onset 'Niemann-Pick disease type C, juvenile neurologic onset' SubClassOf 'Niemann-Pick disease type C' http://purl.obolibrary.org/obo/MONDO_0016305 atypical pantothenate kinase-associated neurodegeneration 'atypical pantothenate kinase-associated neurodegeneration' SubClassOf 'pantothenate kinase-associated neurodegeneration' http://purl.obolibrary.org/obo/MONDO_0018968 iniencephaly 'iniencephaly' SubClassOf 'neural tube closure defect' http://purl.obolibrary.org/obo/MONDO_0016306 Niemann-Pick disease type C, severe perinatal form 'Niemann-Pick disease type C, severe perinatal form' SubClassOf 'Niemann-Pick disease type C' http://purl.obolibrary.org/obo/MONDO_0018967 short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 'short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia' SubClassOf 'congenital agammaglobulinemia' 'short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia' SubClassOf 'isolated growth hormone deficiency type III' http://purl.obolibrary.org/obo/MONDO_0016307 Niemann-Pick disease type C, severe early infantile neurologic onset 'Niemann-Pick disease type C, severe early infantile neurologic onset' SubClassOf 'Niemann-Pick disease type C' http://purl.obolibrary.org/obo/MONDO_0016308 Niemann-Pick disease type C, late infantile neurologic onset 'Niemann-Pick disease type C, late infantile neurologic onset' SubClassOf 'Niemann-Pick disease type C' http://purl.obolibrary.org/obo/MONDO_0018969 craniorachischisis 'craniorachischisis' SubClassOf 'neural tube closure defect' 'craniorachischisis' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0018964 homocystinuria without methylmalonic aciduria 'homocystinuria without methylmalonic aciduria' SubClassOf 'autosomal recessive disease' 'homocystinuria without methylmalonic aciduria' SubClassOf 'homocystinuria' 'methylmalonic aciduria and homocystinuria' DisjointWith 'homocystinuria without methylmalonic aciduria' 'homocystinuria without methylmalonic aciduria' SubClassOf 'inborn disorder of cobalamin metabolism and transport' 'homocystinuria without methylmalonic aciduria' SubClassOf 'inherited deficiency anemia' 'homocystinuria without methylmalonic aciduria' SubClassOf 'cerebral organic aciduria' 'homocystinuria without methylmalonic aciduria' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0016302 isolated congenitally uncorrected transposition of the great arteries 'isolated congenitally uncorrected transposition of the great arteries' SubClassOf 'has modifier' some 'congenital' 'isolated congenitally uncorrected transposition of the great arteries' SubClassOf 'dextro-looped transposition of the great arteries' http://purl.obolibrary.org/obo/MONDO_0018963 hereditary methemoglobinemia 'hereditary methemoglobinemia' SubClassOf 'inherited hemoglobinopathy' 'hereditary methemoglobinemia' SubClassOf 'methemoglobinemia' 'hereditary methemoglobinemia' EquivalentTo 'methemoglobinemia' and ('has modifier' some 'inherited') 'hereditary methemoglobinemia' SubClassOf 'anemia' http://purl.obolibrary.org/obo/MONDO_0016303 congenitally uncorrected transposition of the great arteries with cardiac malformation 'congenitally uncorrected transposition of the great arteries with cardiac malformation' SubClassOf 'dextro-looped transposition of the great arteries' 'congenitally uncorrected transposition of the great arteries with cardiac malformation' SubClassOf 'has modifier' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0018965 Alport syndrome 'Alport syndrome' SubClassOf 'glomerulonephritis' 'Alport syndrome' SubClassOf 'disease of glomerular basement membrane' 'Alport syndrome' SubClassOf 'syndromic genetic hearing loss' 'Alport syndrome' SubClassOf 'lens shape anomaly' 'Alport syndrome' SubClassOf 'hereditary nephritis' http://purl.obolibrary.org/obo/MONDO_0016304 classic pantothenate kinase-associated neurodegeneration 'classic pantothenate kinase-associated neurodegeneration' SubClassOf 'pantothenate kinase-associated neurodegeneration' http://purl.obolibrary.org/obo/MONDO_0018960 congenital primary megaureter 'congenital primary megaureter' SubClassOf 'non-syndromic urogenital tract malformation of male and female' 'congenital primary megaureter' SubClassOf 'non-syndromic renal or urinary tract malformation' http://purl.obolibrary.org/obo/MONDO_0018962 common mesentery 'common mesentery' SubClassOf 'non-syndromic intestinal malformation' http://purl.obolibrary.org/obo/MONDO_0018961 familial melanoma 'familial melanoma' EquivalentTo 'melanoma' and ('has modifier' some 'inherited') 'familial melanoma' SubClassOf 'inherited neuroendocrine tumor' 'familial melanoma' SubClassOf 'melanoma' http://purl.obolibrary.org/obo/MONDO_0016316 mucopolysaccharidosis type 2, attenuated form 'mucopolysaccharidosis type 2, attenuated form' SubClassOf 'mucopolysaccharidosis type 2' http://purl.obolibrary.org/obo/MONDO_0016319 congenital insensitivity to pain with hyperhidrosis 'congenital insensitivity to pain with hyperhidrosis' SubClassOf 'congenital nervous system disorder' 'congenital insensitivity to pain with hyperhidrosis' SubClassOf 'hereditary sensory and autonomic neuropathy' http://purl.obolibrary.org/obo/MONDO_0018975 neurofibromatosis type 1 'neurofibromatosis type 1' SubClassOf 'disease has feature' some 'hyperpigmentation of the skin' 'neurofibromatosis type 1' SubClassOf 'developmental defect during embryogenesis' 'neurofibromatosis type 1' SubClassOf 'eye disease' 'neurofibromatosis type 1' SubClassOf 'neurocristopathy' 'neurofibromatosis type 1' SubClassOf 'neurovascular disorder' 'neurofibromatosis type 1' SubClassOf 'genetic hypertension' 'neurofibromatosis type 1' SubClassOf 'rasopathy' 'neurofibromatosis type 1' SubClassOf 'neurofibromatosis' http://purl.obolibrary.org/obo/MONDO_0016315 mucopolysaccharidosis type 2, severe form 'mucopolysaccharidosis type 2, severe form' SubClassOf 'mucopolysaccharidosis type 2' http://purl.obolibrary.org/obo/MONDO_0018971 isolated oxycephaly 'isolated oxycephaly' SubClassOf 'neuro-ophthalmological disease' 'isolated oxycephaly' SubClassOf 'isolated craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0018973 patterned dystrophy of the retinal pigment epithelium 'patterned dystrophy of the retinal pigment epithelium' SubClassOf 'genetic macular dystrophy' http://purl.obolibrary.org/obo/MONDO_0016310 Niemann-Pick disease type C, adult neurologic onset 'Niemann-Pick disease type C, adult neurologic onset' SubClassOf 'Niemann-Pick disease type C' http://purl.obolibrary.org/obo/MONDO_0016323 chronic respiratory distress with surfactant metabolism deficiency 'chronic respiratory distress with surfactant metabolism deficiency' SubClassOf 'primary interstitial lung disease in childhood and adulthood' 'chronic respiratory distress with surfactant metabolism deficiency' SubClassOf 'hereditary pulmonary alveolar proteinosis' http://purl.obolibrary.org/obo/MONDO_0018988 iridocorneal endothelial syndrome 'iridocorneal endothelial syndrome' SubClassOf 'syndromic corneal dystrophy' 'iridocorneal endothelial syndrome' SubClassOf 'disease has feature' some 'glaucoma' http://purl.obolibrary.org/obo/MONDO_0018982 Niemann-Pick disease type C 'Niemann-Pick disease type C' SubClassOf 'Niemann-Pick disease' http://purl.obolibrary.org/obo/MONDO_0018983 Tolosa-Hunt syndrome 'Tolosa-Hunt syndrome' SubClassOf 'ocular motility disease' 'Tolosa-Hunt syndrome' SubClassOf 'nuclear oculomotor paralysis' 'Tolosa-Hunt syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0018980 acrofacial dysostosis, Kennedy-Teebi type 'acrofacial dysostosis, Kennedy-Teebi type' SubClassOf 'branchial arch or oral-acral syndrome' 'acrofacial dysostosis, Kennedy-Teebi type' SubClassOf 'acrofacial dysostosis' http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome 'Noonan syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Noonan syndrome' SubClassOf 'neurovascular disorder' 'Noonan syndrome' SubClassOf 'lymphatic malformation' 'Noonan syndrome' SubClassOf 'syndromic urogenital tract malformation' 'Noonan syndrome' SubClassOf 'Noonan syndrome and Noonan-related syndrome' 'Noonan syndrome' SubClassOf 'eyelids malposition disorder' 'Noonan syndrome' SubClassOf 'syndromic renal or urinary tract malformation' 'Noonan syndrome' SubClassOf 'malposition of external canthus' 'Noonan syndrome' SubClassOf 'syndromic lymphedema' http://purl.obolibrary.org/obo/MONDO_0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 'spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2' SubClassOf 'genetic peripheral neuropathy' 'spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2' SubClassOf 'spinocerebellar ataxia, autosomal recessive, with axonal neuropathy' http://purl.obolibrary.org/obo/MONDO_0018999 LCAT deficiency 'LCAT deficiency' SubClassOf 'nephropathy secondary to a storage or other metabolic disease' 'LCAT deficiency' SubClassOf 'eye disease' 'LCAT deficiency' SubClassOf 'hypoalphalipoproteinemia' http://purl.obolibrary.org/obo/MONDO_0018998 Leber congenital amaurosis 'Leber congenital amaurosis' SubClassOf 'syndromic keratoconus' 'Leber congenital amaurosis' SubClassOf 'inherited retinal dystrophy' 'Leber congenital amaurosis' SubClassOf 'congenital nervous system disorder' 'Leber congenital amaurosis' SubClassOf 'syndromic hyperopia' http://purl.obolibrary.org/obo/MONDO_0016331 infantile systemic hyalinosis 'infantile systemic hyalinosis' SubClassOf 'hyaline fibromatosis syndrome' http://purl.obolibrary.org/obo/MONDO_0018995 Charcot-Marie-Tooth disease type 4 'Charcot-Marie-Tooth disease type 4' SubClassOf 'autosomal recessive hereditary demyelinating motor and sensory neuropathy' http://purl.obolibrary.org/obo/MONDO_0016333 familial dilated cardiomyopathy 'familial dilated cardiomyopathy' SubClassOf 'dilated cardiomyopathy' 'familial dilated cardiomyopathy' EquivalentTo 'dilated cardiomyopathy' and ('has modifier' some 'inherited') 'familial dilated cardiomyopathy' SubClassOf 'familial cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0018994 Charcot-Marie-Tooth disease type X 'Charcot-Marie-Tooth disease type X' SubClassOf 'X-linked deafness' 'Charcot-Marie-Tooth disease type X' SubClassOf 'Charcot-Marie-Tooth disease' 'Charcot-Marie-Tooth disease type X' SubClassOf 'hereditary motor and sensory neuropathy' 'Charcot-Marie-Tooth disease type X' SubClassOf 'X-linked syndromic intellectual disability' 'Charcot-Marie-Tooth disease type X' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0016349 congenital hydrocephalus 'congenital hydrocephalus' SubClassOf 'genetic nervous system disorder' 'congenital hydrocephalus' SubClassOf 'congenital nervous system disorder' 'congenital hydrocephalus' SubClassOf 'brain disease' 'congenital hydrocephalus' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0016346 hydrocephalus-obesity-hypogonadism syndrome 'hydrocephalus-obesity-hypogonadism syndrome' SubClassOf 'syndromic genetic obesity' http://purl.obolibrary.org/obo/MONDO_0016342 familial isolated arrhythmogenic right ventricular dysplasia 'familial isolated arrhythmogenic right ventricular dysplasia' SubClassOf 'familial cardiomyopathy' 'familial isolated arrhythmogenic right ventricular dysplasia' SubClassOf 'has modifier' some 'has an isolated presentation' 'familial isolated arrhythmogenic right ventricular dysplasia' SubClassOf 'arrhythmogenic right ventricular cardiomyopathy' 'familial isolated arrhythmogenic right ventricular dysplasia' EquivalentTo 'arrhythmogenic right ventricular cardiomyopathy' and ('has modifier' some 'has an isolated presentation') http://purl.obolibrary.org/obo/MONDO_0016344 hydranencephaly 'hydranencephaly' SubClassOf 'encephaloclastic disorder' 'hydranencephaly' SubClassOf 'anencephaly' http://purl.obolibrary.org/obo/MONDO_0016340 familial restrictive cardiomyopathy 'familial restrictive cardiomyopathy' EquivalentTo 'restrictive cardiomyopathy' and ('has modifier' some 'inherited') 'familial restrictive cardiomyopathy' SubClassOf 'familial cardiomyopathy' 'familial restrictive cardiomyopathy' SubClassOf 'restrictive cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0100184 GTP cyclohydrolase I deficiency 'GTP cyclohydrolase I deficiency' SubClassOf 'tetrahydrobiopterin metabolic process disease' http://purl.obolibrary.org/obo/MONDO_0016357 dysplastic cortical hyperostosis 'dysplastic cortical hyperostosis' SubClassOf 'primary bone dysplasia' http://purl.obolibrary.org/obo/MONDO_0016352 idiopathic inherited hypercalciuria 'idiopathic inherited hypercalciuria' SubClassOf 'idiopathic disease' 'idiopathic inherited hypercalciuria' SubClassOf 'inherited renal tubular disease' http://purl.obolibrary.org/obo/MONDO_0016353 palmoplantar keratoderma-spastic paralysis syndrome 'palmoplantar keratoderma-spastic paralysis syndrome' SubClassOf 'palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome' http://purl.obolibrary.org/obo/MONDO_0016354 xeroderma pigmentosum-Cockayne syndrome complex 'xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'disease shares features of' some 'xeroderma pigmentosum' 'xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'hereditary photodermatosis' 'xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'disease shares features of' some 'Cockayne syndrome' 'xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'progeroid syndrome' 'xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'syndromic genetic hearing loss' 'xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'syndromic retinitis pigmentosa' 'xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0016355 semilobar holoprosencephaly 'semilobar holoprosencephaly' SubClassOf 'holoprosencephaly' http://purl.obolibrary.org/obo/MONDO_0016350 hydrocephalus-blue sclerae-nephropathy syndrome 'hydrocephalus-blue sclerae-nephropathy syndrome' SubClassOf 'congenital hydrocephalus' 'hydrocephalus-blue sclerae-nephropathy syndrome' SubClassOf 'syndromic renal or urinary tract malformation' http://purl.obolibrary.org/obo/MONDO_0016368 Rothmund-Thomson syndrome type 1 'Rothmund-Thomson syndrome type 1' SubClassOf 'Rothmund-Thomson syndrome' http://purl.obolibrary.org/obo/MONDO_0016369 Rothmund-Thomson syndrome type 2 'Rothmund-Thomson syndrome type 2' SubClassOf 'Rothmund-Thomson syndrome' http://purl.obolibrary.org/obo/MONDO_0016364 Joubert syndrome with ocular defect 'Joubert syndrome with ocular defect' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Joubert syndrome with ocular defect' SubClassOf 'Joubert syndrome and related disorders' 'Joubert syndrome with ocular defect' SubClassOf 'central nervous system malformation' 'Joubert syndrome with ocular defect' SubClassOf 'neuro-ophthalmological disease' 'Joubert syndrome with ocular defect' SubClassOf 'syndromic retinitis pigmentosa' http://purl.obolibrary.org/obo/MONDO_0016365 familial primary hyperparathyroidism 'familial primary hyperparathyroidism' EquivalentTo 'primary hyperparathyroidism' and ('has modifier' some 'inherited') 'familial primary hyperparathyroidism' SubClassOf 'has modifier' some 'rare' 'familial primary hyperparathyroidism' SubClassOf 'tumor of parathyroid gland' 'familial primary hyperparathyroidism' SubClassOf 'primary hyperparathyroidism' 'familial primary hyperparathyroidism' SubClassOf 'genetic hyperparathyroidism' http://purl.obolibrary.org/obo/MONDO_0016366 maternal phenylketonuria 'maternal phenylketonuria' SubClassOf 'genetic otorhinolaryngologic disease' 'maternal phenylketonuria' SubClassOf 'teratogenic Pierre Robin syndrome' 'maternal phenylketonuria' SubClassOf 'maternal disease-related embryofetopathy' 'maternal phenylketonuria' SubClassOf 'phenylketonuria' 'maternal phenylketonuria' SubClassOf 'developmental anomaly of metabolic origin' http://purl.obolibrary.org/obo/MONDO_0016360 marcothrombocytopenia with mitral valve insufficiency 'marcothrombocytopenia with mitral valve insufficiency' SubClassOf 'syndromic constitutional thrombocytopenia' http://purl.obolibrary.org/obo/MONDO_0016361 isolated hereditary giant platelet disorder 'isolated hereditary giant platelet disorder' SubClassOf 'isolated constitutional thrombocytopenia' http://purl.obolibrary.org/obo/MONDO_0016362 attenuated familial adenomatous polyposis 'attenuated familial adenomatous polyposis' SubClassOf 'classic or attenuated familial adenomatous polyposis' http://purl.obolibrary.org/obo/MONDO_0016377 Pitt-Hopkins-like syndrome 'Pitt-Hopkins-like syndrome' SubClassOf 'syndromic intellectual disability' 'Pitt-Hopkins-like syndrome' SubClassOf 'congenital nervous system disorder' 'Pitt-Hopkins-like syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Pitt-Hopkins-like syndrome' SubClassOf 'monogenic epilepsy' http://purl.obolibrary.org/obo/MONDO_0016390 familial hypoparathyroidism 'familial hypoparathyroidism' SubClassOf 'genetic hypoparathyroidism' http://purl.obolibrary.org/obo/MONDO_0016391 neonatal diabetes mellitus 'neonatal diabetes mellitus' SubClassOf 'diabetes mellitus' 'neonatal diabetes mellitus' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016385 hypogonadism-mitral valve prolapse-intellectual disability syndrome 'hypogonadism-mitral valve prolapse-intellectual disability syndrome' SubClassOf 'has modifier' some 'rare' 'hypogonadism-mitral valve prolapse-intellectual disability syndrome' SubClassOf 'male infertility' http://purl.obolibrary.org/obo/MONDO_0016386 hypogonadotropic hypogonadism-retinitis pigmentosa syndrome 'hypogonadotropic hypogonadism-retinitis pigmentosa syndrome' SubClassOf 'congenital hypogonadotropic hypogonadism' 'hypogonadotropic hypogonadism-retinitis pigmentosa syndrome' SubClassOf 'syndromic retinitis pigmentosa' http://purl.obolibrary.org/obo/MONDO_0016387 mitochondrial oxidative phosphorylation disorder 'mitochondrial oxidative phosphorylation disorder' SubClassOf 'inborn mitochondrial metabolism disorder' http://purl.obolibrary.org/obo/MONDO_0016381 hypertrichosis lanuginosa congenita 'hypertrichosis lanuginosa congenita' SubClassOf 'hypertrichosis' 'hypertrichosis lanuginosa congenita' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0016382 hereditary poikiloderma 'hereditary poikiloderma' SubClassOf 'epidermal disease' http://purl.obolibrary.org/obo/MONDO_0016383 nephrogenic diabetes insipidus 'nephrogenic diabetes insipidus' SubClassOf 'inherited renal tubular disease' 'nephrogenic diabetes insipidus' SubClassOf 'diabetes insipidus' 'nephrogenic diabetes insipidus' SubClassOf 'impaired renal function disease' http://purl.obolibrary.org/obo/MONDO_0016384 hypogonadotropic hypogonadism-frontoparietal alopecia syndrome 'hypogonadotropic hypogonadism-frontoparietal alopecia syndrome' SubClassOf 'congenital hypogonadotropic hypogonadism' http://purl.obolibrary.org/obo/MONDO_0016396 pontocerebellar hypoplasia type 1 'pontocerebellar hypoplasia type 1' SubClassOf 'autosomal recessive non-syndromic intellectual disability' 'pontocerebellar hypoplasia type 1' SubClassOf 'pontocerebellar hypoplasia' 'pontocerebellar hypoplasia type 1' SubClassOf 'non-syndromic central nervous system malformation' 'pontocerebellar hypoplasia type 1' SubClassOf 'hereditary motor neuron disease' 'pontocerebellar hypoplasia type 1' SubClassOf 'bulbospinal muscular atrophy' http://purl.obolibrary.org/obo/MONDO_0016393 hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome 'hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome' SubClassOf 'congenital hypogonadotropic hypogonadism' 'hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome' SubClassOf 'arhinia, choanal atresia, and microphthalmia' http://purl.obolibrary.org/obo/MONDO_0016394 sporadic infantile bilateral striatal necrosis 'sporadic infantile bilateral striatal necrosis' SubClassOf 'infantile bilateral striatal necrosis' http://purl.obolibrary.org/obo/MONDO_0016395 foveal hypoplasia-presenile cataract syndrome 'foveal hypoplasia-presenile cataract syndrome' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive 'growth hormone insensitivity with immune dysregulation 1, autosomal recessive' SubClassOf 'primary immunodeficiency due to a defect in adaptive immunity' 'growth hormone insensitivity with immune dysregulation 1, autosomal recessive' SubClassOf 'autosomal recessive disease' 'growth hormone insensitivity with immune dysregulation 1, autosomal recessive' SubClassOf 'growth hormone insensitivity syndrome with immune dysregulation' http://purl.obolibrary.org/obo/MONDO_0100213 IFAP syndrome with or without BRESHECK syndrome 'IFAP syndrome with or without BRESHECK syndrome' SubClassOf 'X-linked recessive disease' 'IFAP syndrome with or without BRESHECK syndrome' SubClassOf 'X-linked ichthyosis syndrome' 'IFAP syndrome with or without BRESHECK syndrome' SubClassOf 'IFAP syndrome' http://purl.obolibrary.org/obo/MONDO_0100215 Rajab interstitial lung disease with brain calcifications 1 'Rajab interstitial lung disease with brain calcifications 1' SubClassOf 'autosomal recessive disease' 'Rajab interstitial lung disease with brain calcifications 1' SubClassOf 'Rajab interstitial lung disease with brain calcifications' http://purl.obolibrary.org/obo/MONDO_0100229 obsolete Heimler syndrome 'obsolete Heimler syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0018801 congenital bilateral absence of vas deferens 'congenital bilateral absence of vas deferens' SubClassOf 'non-syndromic male infertility due to sperm motility disorder' 'congenital bilateral absence of vas deferens' SubClassOf 'has modifier' some 'congenital' 'congenital bilateral absence of vas deferens' SubClassOf 'genetic infertility' 'congenital bilateral absence of vas deferens' SubClassOf 'non-syndromic urogenital tract malformation of male' http://purl.obolibrary.org/obo/MONDO_0018800 Kallmann syndrome 'Kallmann syndrome' SubClassOf 'hypogonadotropic hypogonadism' 'Kallmann syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0018838 lissencephaly spectrum disorders 'lissencephaly spectrum disorders' SubClassOf 'disorder of development or morphogenesis' 'lissencephaly spectrum disorders' SubClassOf 'genetic nervous system disorder' 'lissencephaly spectrum disorders' SubClassOf 'syndromic intellectual disability' 'lissencephaly spectrum disorders' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0018849 dentinogenesis imperfecta 'dentinogenesis imperfecta' SubClassOf 'hereditary dentin defect' http://purl.obolibrary.org/obo/MONDO_0018844 urachal cyst 'urachal cyst' SubClassOf 'congenital urachal anomaly' http://purl.obolibrary.org/obo/MONDO_0018858 Graham Little-Piccardi-Lassueur syndrome 'Graham Little-Piccardi-Lassueur syndrome' SubClassOf 'alopecia' http://purl.obolibrary.org/obo/MONDO_0018853 transgrediens et progrediens palmoplantar keratoderma 'transgrediens et progrediens palmoplantar keratoderma' SubClassOf 'autosomal dominant isolated diffuse palmoplantar keratoderma' 'transgrediens et progrediens palmoplantar keratoderma' SubClassOf 'erythrokeratodermia variabilis' http://purl.obolibrary.org/obo/MONDO_0018855 keratosis pilaris atrophicans 'keratosis pilaris atrophicans' SubClassOf 'genetic skin disease' 'keratosis pilaris atrophicans' SubClassOf 'keratosis pilaris' 'keratosis pilaris atrophicans' SubClassOf 'epidermal disease' http://purl.obolibrary.org/obo/MONDO_0018852 achromatopsia 'achromatopsia' SubClassOf 'genetic nervous system disorder' 'achromatopsia' SubClassOf 'syndromic myopia' 'achromatopsia' SubClassOf 'color vision disorder' 'achromatopsia' SubClassOf 'disease has feature' some 'amblyopia' http://purl.obolibrary.org/obo/MONDO_0018851 familial keratoacanthoma 'familial keratoacanthoma' SubClassOf 'inherited skin tumor' 'familial keratoacanthoma' SubClassOf 'keratoacanthoma' 'familial keratoacanthoma' SubClassOf 'disease has feature' some 'benign tumor of palpebral epidermis' 'familial keratoacanthoma' EquivalentTo 'keratoacanthoma' and ('has modifier' some 'inherited') http://purl.obolibrary.org/obo/HP_0007165 Periventricular heterotopia 'Periventricular heterotopia' SubClassOf 'Gray matter heterotopia' http://purl.obolibrary.org/obo/MONDO_0018869 cobblestone lissencephaly 'cobblestone lissencephaly' SubClassOf 'lissencephaly spectrum disorders' http://purl.obolibrary.org/obo/MONDO_0018868 metachromatic leukodystrophy 'metachromatic leukodystrophy' SubClassOf 'neurometabolic disease' 'metachromatic leukodystrophy' SubClassOf 'sphingolipidosis' 'metachromatic leukodystrophy' SubClassOf 'genetic peripheral neuropathy' 'metachromatic leukodystrophy' SubClassOf 'leukodystrophy' 'metachromatic leukodystrophy' SubClassOf 'genetic dementia' http://purl.obolibrary.org/obo/MONDO_0016209 benign familial nocturnal alternating hemiplegia of childhood 'benign familial nocturnal alternating hemiplegia of childhood' SubClassOf 'alternating hemiplegia' http://purl.obolibrary.org/obo/MONDO_0016202 autosomal dominant rhegmatogenous retinal detachment 'autosomal dominant rhegmatogenous retinal detachment' SubClassOf 'autosomal dominant disease' 'autosomal dominant rhegmatogenous retinal detachment' SubClassOf 'rhegmatogenous retinal detachment' http://purl.obolibrary.org/obo/MONDO_0018865 striate palmoplantar keratoderma 'striate palmoplantar keratoderma' SubClassOf 'isolated focal palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0016203 hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency 'hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency' SubClassOf 'inborn disorder of bile acid synthesis' 'hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency' SubClassOf 'familial hypercholesterolemia' 'hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016205 IRVAN syndrome 'IRVAN syndrome' SubClassOf 'disorder of central nervous system or retinal vasculature' 'IRVAN syndrome' SubClassOf 'has modifier' some 'rare' 'IRVAN syndrome' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0018866 Aicardi-Goutieres syndrome 'Aicardi-Goutieres syndrome' SubClassOf 'hereditary disorder of connective tissue' 'Aicardi-Goutieres syndrome' SubClassOf 'autosomal recessive disease' 'Aicardi-Goutieres syndrome' SubClassOf 'type 1 interferonopathy' 'Aicardi-Goutieres syndrome' SubClassOf 'leukodystrophy' 'Aicardi-Goutieres syndrome' SubClassOf 'syndromic intellectual disability' 'Aicardi-Goutieres syndrome' SubClassOf 'primary immunodeficiency due to a genetic defect in innate immunity' http://purl.obolibrary.org/obo/MONDO_0018861 Zellweger-like syndrome without peroxisomal anomalies 'Zellweger-like syndrome without peroxisomal anomalies' SubClassOf 'mitochondrial oxidative phosphorylation disorder' 'Zellweger-like syndrome without peroxisomal anomalies' SubClassOf 'disease shares features of' some 'Zellweger spectrum disorders' http://purl.obolibrary.org/obo/MONDO_0018860 microlissencephaly-micromelia syndrome 'microlissencephaly-micromelia syndrome' SubClassOf 'syndromic intellectual disability' 'microlissencephaly-micromelia syndrome' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016200 qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase - 'qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' http://purl.obolibrary.org/obo/MONDO_0016201 qualitative or quantitative defects of myotilin 'qualitative or quantitative defects of myotilin' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' http://purl.obolibrary.org/obo/MONDO_0016213 leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome 'leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome' SubClassOf 'syndromic nail anomaly' 'leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome' SubClassOf 'hyperpigmentation of the skin' http://purl.obolibrary.org/obo/MONDO_0018875 Li-Fraumeni syndrome 'Li-Fraumeni syndrome' SubClassOf 'hereditary neoplastic syndrome' 'Li-Fraumeni syndrome' SubClassOf 'autosomal dominant disease' 'Li-Fraumeni syndrome' SubClassOf 'inherited nervous system cancer-predisposing syndrome' 'Li-Fraumeni syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0016215 spastic quadriplegic cerebral palsy 'spastic quadriplegic cerebral palsy' SubClassOf 'spastic cerebral palsy' 'spastic quadriplegic cerebral palsy' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0018878 branchiootic syndrome 'branchiootic syndrome' SubClassOf 'syndromic genetic hearing loss' 'branchiootic syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'branchiootic syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0018877 retinitis punctata albescens 'retinitis punctata albescens' SubClassOf 'fundus albipunctatus' http://purl.obolibrary.org/obo/MONDO_0016210 alternating hemiplegia 'alternating hemiplegia' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0018870 arterial calcification of infancy 'arterial calcification of infancy' SubClassOf 'has modifier' some 'rare' 'arterial calcification of infancy' SubClassOf 'vascular disease' 'arterial calcification of infancy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0016229 genetic vascular anomaly 'genetic vascular anomaly' SubClassOf 'disorder of development or morphogenesis' 'genetic vascular anomaly' SubClassOf 'genetic disorder' 'genetic vascular anomaly' EquivalentTo 'vascular anomaly' and ('has modifier' some 'inherited') 'genetic vascular anomaly' SubClassOf 'vascular anomaly' 'genetic vascular anomaly' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016224 autosomal dominant proximal spinal muscular atrophy 'autosomal dominant proximal spinal muscular atrophy' SubClassOf 'proximal spinal muscular atrophy' 'autosomal dominant proximal spinal muscular atrophy' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0018889 hyaline body myopathy 'hyaline body myopathy' SubClassOf 'congenital myopathy' 'hyaline body myopathy' SubClassOf 'congenital nervous system disorder' 'hyaline body myopathy' SubClassOf 'qualitative or quantitative defects of beta-myosin heavy chain (MYH7)' http://purl.obolibrary.org/obo/MONDO_0016227 hereditary episodic ataxia 'hereditary episodic ataxia' SubClassOf 'hereditary ataxia' http://purl.obolibrary.org/obo/MONDO_0018888 congenital cornea plana 'congenital cornea plana' SubClassOf 'cornea plana' 'congenital cornea plana' SubClassOf 'has modifier' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0018883 Berardinelli-Seip congenital lipodystrophy 'Berardinelli-Seip congenital lipodystrophy' SubClassOf 'genetic lipodystrophy' 'Berardinelli-Seip congenital lipodystrophy' SubClassOf 'disorder of development or morphogenesis' 'Berardinelli-Seip congenital lipodystrophy' SubClassOf 'has modifier' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0018884 Roch-Leri mesosomatous lipomatosis 'Roch-Leri mesosomatous lipomatosis' SubClassOf 'has modifier' some 'rare' 'Roch-Leri mesosomatous lipomatosis' SubClassOf 'subcutaneous tissue disorder' http://purl.obolibrary.org/obo/MONDO_0600011 mild hypophosphatasia 'mild hypophosphatasia' SubClassOf 'hypophosphatasia' http://purl.obolibrary.org/obo/MONDO_0016239 cystinosis 'cystinosis' SubClassOf 'inborn disorder of lysosomal amino acid transport' http://purl.obolibrary.org/obo/MONDO_0018899 posterior cortical atrophy 'posterior cortical atrophy' SubClassOf 'inherited neurodegenerative disorder' 'posterior cortical atrophy' SubClassOf 'genetic dementia' http://purl.obolibrary.org/obo/MONDO_0018894 distal hereditary motor neuropathy 'distal hereditary motor neuropathy' SubClassOf 'hereditary motor neuron disease' 'distal hereditary motor neuropathy' SubClassOf 'genetic peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0018892 Wyburn-Mason syndrome 'Wyburn-Mason syndrome' SubClassOf 'neurovascular disorder' 'Wyburn-Mason syndrome' SubClassOf 'cerebrofacial arteriovenous metameric syndrome' 'Wyburn-Mason syndrome' SubClassOf 'skin vascular disease' 'Wyburn-Mason syndrome' SubClassOf 'neurocutaneous syndrome' 'Wyburn-Mason syndrome' SubClassOf 'skin hemangioma' 'Wyburn-Mason syndrome' SubClassOf 'benign eyelid neoplasm' http://purl.obolibrary.org/obo/MONDO_0016248 familial ovarian cancer 'familial ovarian cancer' SubClassOf 'ovarian cancer' 'familial ovarian cancer' EquivalentTo 'ovarian cancer' and ('has modifier' some 'inherited') 'familial ovarian cancer' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0016249 hereditary site-specific ovarian cancer syndrome 'hereditary site-specific ovarian cancer syndrome' SubClassOf 'familial ovarian cancer' http://purl.obolibrary.org/obo/MONDO_0016242 hemoglobin C disease 'hemoglobin C disease' SubClassOf 'inherited hemoglobinopathy' 'hemoglobin C disease' SubClassOf 'anemia' http://purl.obolibrary.org/obo/MONDO_0016243 hemoglobin E disease 'hemoglobin E disease' SubClassOf 'anemia' 'hemoglobin E disease' SubClassOf 'inherited hemoglobinopathy' http://purl.obolibrary.org/obo/MONDO_0016244 atypical hemolytic-uremic syndrome 'atypical hemolytic-uremic syndrome' SubClassOf 'syndromic disease' 'atypical hemolytic-uremic syndrome' SubClassOf 'complement deficiency' 'atypical hemolytic-uremic syndrome' SubClassOf 'hemolytic-uremic syndrome' http://purl.obolibrary.org/obo/MONDO_0016240 hemimelia 'hemimelia' SubClassOf 'non-syndromic limb reduction defect' http://purl.obolibrary.org/obo/MONDO_0016241 alternating hemiplegia of childhood 'alternating hemiplegia of childhood' SubClassOf 'alternating hemiplegia' 'alternating hemiplegia of childhood' SubClassOf 'hemiplegia' 'alternating hemiplegia of childhood' SubClassOf 'neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0016259 carcinosarcoma of the corpus uteri 'carcinosarcoma of the corpus uteri' SubClassOf 'Uterine Carcinosarcoma' 'carcinosarcoma of the corpus uteri' SubClassOf 'uterine body mixed cancer' http://purl.obolibrary.org/obo/MONDO_0016256 Hennekam syndrome 'Hennekam syndrome' SubClassOf 'primary immunodeficiency due to a defect in adaptive immunity' 'Hennekam syndrome' SubClassOf 'genetic nervous system disorder' 'Hennekam syndrome' SubClassOf 'neurovascular disorder' 'Hennekam syndrome' SubClassOf 'lymphatic malformation' 'Hennekam syndrome' SubClassOf 'congenital nervous system disorder' 'Hennekam syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Hennekam syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Hennekam syndrome' SubClassOf 'syndromic lymphedema' 'Hennekam syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0016281 46,XX ovotesticular disorder of sex development '46,XX ovotesticular disorder of sex development' SubClassOf '46,XX disorder of gonadal development' '46,XX ovotesticular disorder of sex development' SubClassOf 'female infertility' http://purl.obolibrary.org/obo/MONDO_0016290 Hernández-Aguirre Negrete syndrome 'Hernández-Aguirre Negrete syndrome' SubClassOf 'syndromic intellectual disability' 'Hernández-Aguirre Negrete syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Hernández-Aguirre Negrete syndrome' SubClassOf 'congenital nervous system disorder' 'Hernández-Aguirre Negrete syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Hernández-Aguirre Negrete syndrome' SubClassOf 'Ehlers-Danlos syndrome' 'Hernández-Aguirre Negrete syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0016291 craniosynostosis, Herrmann-Opitz type 'craniosynostosis, Herrmann-Opitz type' SubClassOf 'syndromic craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0016292 nodular neuronal heterotopia 'nodular neuronal heterotopia' SubClassOf 'has modifier' some 'rare' 'nodular neuronal heterotopia' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0016297 prelingual non-syndromic genetic hearing loss 'prelingual non-syndromic genetic hearing loss' SubClassOf 'nonsyndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0016298 postlingual non-syndromic genetic hearing loss 'postlingual non-syndromic genetic hearing loss' SubClassOf 'nonsyndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0016293 congenital stationary night blindness 'congenital stationary night blindness' SubClassOf 'hereditary night blindness' http://purl.obolibrary.org/obo/MONDO_0016294 Hirschsprung disease-type D brachydactyly syndrome 'Hirschsprung disease-type D brachydactyly syndrome' SubClassOf 'intestinal motility disease' 'Hirschsprung disease-type D brachydactyly syndrome' SubClassOf 'syndromic anorectal malformation' 'Hirschsprung disease-type D brachydactyly syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0016295 neuronal ceroid lipofuscinosis 'neuronal ceroid lipofuscinosis' SubClassOf 'inherited neurodegenerative disorder' 'neuronal ceroid lipofuscinosis' SubClassOf 'neurometabolic disease' 'neuronal ceroid lipofuscinosis' SubClassOf 'lysosomal lipid storage disorder' http://purl.obolibrary.org/obo/MONDO_0016296 holoprosencephaly 'holoprosencephaly' SubClassOf 'congenital nervous system disorder' 'holoprosencephaly' SubClassOf 'non-acquired combined pituitary hormone deficiency' 'holoprosencephaly' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'holoprosencephaly' SubClassOf 'midline cerebral malformation' 'holoprosencephaly' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'holoprosencephaly' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0018901 left ventricular noncompaction 'left ventricular noncompaction' SubClassOf 'intrinsic cardiomyopathy' 'left ventricular noncompaction' SubClassOf 'familial cardiomyopathy' 'left ventricular noncompaction' SubClassOf 'syndromic disease' 'left ventricular noncompaction' SubClassOf 'congenital heart disease' http://purl.obolibrary.org/obo/MONDO_0018904 primary membranoproliferative glomerulonephritis 'primary membranoproliferative glomerulonephritis' SubClassOf 'glomerulonephritis' 'primary membranoproliferative glomerulonephritis' SubClassOf 'primary glomerular disease' http://purl.obolibrary.org/obo/MONDO_0018916 isolated anorectal malformation 'isolated anorectal malformation' SubClassOf 'anorectal malformation' 'isolated anorectal malformation' EquivalentTo 'anorectal malformation' and ('has modifier' some 'has an isolated presentation') 'isolated anorectal malformation' SubClassOf 'has modifier' some 'has an isolated presentation' http://purl.obolibrary.org/obo/MONDO_0018919 McCune-Albright syndrome 'McCune-Albright syndrome' SubClassOf 'disease has feature' some 'peripheral precocious puberty' 'McCune-Albright syndrome' SubClassOf 'genetic disorder' 'McCune-Albright syndrome' SubClassOf 'disease has feature' some 'precocious puberty in female' 'McCune-Albright syndrome' SubClassOf 'disease has feature' some 'hyperpigmentation of the skin' http://purl.obolibrary.org/obo/MONDO_0018914 hypotrichosis simplex 'hypotrichosis simplex' SubClassOf 'alopecia' 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 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018910 oculocutaneous albinism 'oculocutaneous albinism' SubClassOf 'hypopigmentation of the skin' 'oculocutaneous albinism' SubClassOf 'genetic skin disease' 'oculocutaneous albinism' SubClassOf 'disorder of melanin metabolism' 'oculocutaneous albinism' SubClassOf 'oculocutaneous or ocular albinism' http://purl.obolibrary.org/obo/MONDO_0012605 isolated microphthalmia 5 'isolated microphthalmia 5' SubClassOf 'isolated microphthalmia' http://purl.obolibrary.org/obo/MONDO_0012608 autosomal recessive lower motor neuron disease with childhood onset 'autosomal recessive lower motor neuron disease with childhood onset' SubClassOf 'hereditary motor neuron disease' 'autosomal recessive lower motor neuron disease with childhood onset' SubClassOf 'generalized bulbospinal muscular atrophy' http://purl.obolibrary.org/obo/MONDO_0012624 acyl-CoA dehydrogenase 9 deficiency 'acyl-CoA dehydrogenase 9 deficiency' SubClassOf 'disorder of fatty acid oxidation and ketogenesis' http://purl.obolibrary.org/obo/MONDO_0012622 leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome 'leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome' SubClassOf 'mitochondrial oxidative phosphorylation disorder' 'leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0012621 deafness-infertility syndrome 'deafness-infertility syndrome' SubClassOf 'partial deletion of the long arm of chromosome 15' 'deafness-infertility syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0012637 COG1-CDG 'COG1-CDG' SubClassOf 'defect in conserved oligomeric Golgi complex' 'COG1-CDG' SubClassOf 'congenital disorder of glycosylation-related bone disorder' 'COG1-CDG' SubClassOf 'heart disease' 'COG1-CDG' SubClassOf 'syndromic genetic hearing loss' 'COG1-CDG' SubClassOf 'neurometabolic disease' 'COG1-CDG' SubClassOf 'congenital disorder of glycosylation type II' 'COG1-CDG' SubClassOf 'dysostosis of genetic origin' 'COG1-CDG' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0012638 microphthalmia-brain atrophy syndrome 'microphthalmia-brain atrophy syndrome' SubClassOf 'inherited neurodegenerative disorder' 'microphthalmia-brain atrophy syndrome' SubClassOf 'eye degenerative disorder' 'microphthalmia-brain atrophy syndrome' SubClassOf 'syndromic intellectual disability' 'microphthalmia-brain atrophy syndrome' SubClassOf 'syndromic microphthalmia' http://purl.obolibrary.org/obo/MONDO_0012635 COG8-CDG 'COG8-CDG' SubClassOf 'congenital nervous system disorder' 'COG8-CDG' SubClassOf 'congenital disorder of glycosylation type II' 'COG8-CDG' SubClassOf 'neurometabolic disease' 'COG8-CDG' SubClassOf 'defect in conserved oligomeric Golgi complex' http://purl.obolibrary.org/obo/MONDO_0012639 hereditary spastic paraplegia 18 'hereditary spastic paraplegia 18' SubClassOf 'autosomal recessive complex spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0012634 craniofacial dysplasia - osteopenia syndrome 'craniofacial dysplasia - osteopenia syndrome' SubClassOf 'has modifier' some 'rare' 'craniofacial dysplasia - osteopenia syndrome' SubClassOf 'genetic disorder' 'craniofacial dysplasia - osteopenia syndrome' SubClassOf 'cranial malformation' http://purl.obolibrary.org/obo/MONDO_0012648 isobutyryl-CoA dehydrogenase deficiency 'isobutyryl-CoA dehydrogenase deficiency' SubClassOf 'classic organic aciduria' http://purl.obolibrary.org/obo/MONDO_0012640 Charcot-Marie-Tooth disease type 4J 'Charcot-Marie-Tooth disease type 4J' SubClassOf 'Charcot-Marie-Tooth disease type 4' http://purl.obolibrary.org/obo/MONDO_0012643 hereditary spastic paraplegia 32 'hereditary spastic paraplegia 32' SubClassOf 'autosomal recessive complex spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0009009 hypoplasminogenemia 'hypoplasminogenemia' SubClassOf 'coagulation protein disease' 'hypoplasminogenemia' SubClassOf 'inherited blood coagulation disorder' http://purl.obolibrary.org/obo/MONDO_0009008 heart defect - tongue hamartoma - polysyndactyly syndrome 'heart defect - tongue hamartoma - polysyndactyly syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009007 Jalili syndrome 'Jalili syndrome' SubClassOf 'genetic disorder' 'Jalili syndrome' SubClassOf 'disorder of development or morphogenesis' 'Jalili syndrome' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0012658 brachydactyly type B2 'brachydactyly type B2' SubClassOf 'brachydactyly type B' http://purl.obolibrary.org/obo/MONDO_0009001 macular coloboma-cleft palate-hallux valgus syndrome 'macular coloboma-cleft palate-hallux valgus syndrome' SubClassOf 'orofacial clefting syndrome' 'macular coloboma-cleft palate-hallux valgus syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'macular coloboma-cleft palate-hallux valgus syndrome' SubClassOf 'genetic macular dystrophy' http://purl.obolibrary.org/obo/MONDO_0009000 familial reactive perforating collagenosis 'familial reactive perforating collagenosis' SubClassOf 'dermis elastic tissue disorder' http://purl.obolibrary.org/obo/MONDO_0012651 spastic ataxia 2 'spastic ataxia 2' SubClassOf 'autosomal recessive spastic ataxia' 'spastic ataxia 2' SubClassOf 'autosomal recessive complex spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0012652 autosomal recessive limb-girdle muscular dystrophy type 2L 'autosomal recessive limb-girdle muscular dystrophy type 2L' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0012650 Cernunnos-XLF deficiency 'Cernunnos-XLF deficiency' SubClassOf 'T-B- severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0012656 lethal congenital contracture syndrome 3 'lethal congenital contracture syndrome 3' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'lethal congenital contracture syndrome 3' SubClassOf 'lethal congenital contracture syndrome' http://purl.obolibrary.org/obo/MONDO_0000688 inherited organic acidemia 'inherited organic acidemia' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' 'inherited organic acidemia' SubClassOf 'disorder of organic acid metabolism' http://purl.obolibrary.org/obo/MONDO_0009019 congenital hereditary endothelial dystrophy of cornea 'congenital hereditary endothelial dystrophy of cornea' SubClassOf 'corneal endothelial dystrophy' 'congenital hereditary endothelial dystrophy of cornea' SubClassOf 'posterior corneal dystrophy' 'congenital hereditary endothelial dystrophy of cornea' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009018 central cloudy dystrophy of François 'central cloudy dystrophy of François' SubClassOf 'posterior corneal dystrophy' 'central cloudy dystrophy of François' SubClassOf 'stromal corneal dystrophy' 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' 'microbrachycephaly-ptosis-cleft lip syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'microbrachycephaly-ptosis-cleft lip syndrome' SubClassOf 'orofacial clefting syndrome' http://purl.obolibrary.org/obo/MONDO_0010006 Sandhoff disease 'Sandhoff disease' SubClassOf 'genetic peripheral neuropathy' 'Sandhoff disease' SubClassOf 'cerebral lipidosis with dementia' 'Sandhoff disease' SubClassOf 'eye degenerative disorder' 'Sandhoff disease' SubClassOf 'GM2 gangliosidosis' http://purl.obolibrary.org/obo/MONDO_0009015 corneal dystrophy-perceptive deafness syndrome 'corneal dystrophy-perceptive deafness syndrome' SubClassOf 'syndromic genetic hearing loss' 'corneal dystrophy-perceptive deafness syndrome' SubClassOf 'syndromic corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0010008 sarcosinemia 'sarcosinemia' SubClassOf 'glycine metabolism disease' 'sarcosinemia' SubClassOf 'inborn disorder of serine family metabolism' http://purl.obolibrary.org/obo/MONDO_0012669 Legius syndrome 'Legius syndrome' SubClassOf 'Noonan syndrome and Noonan-related syndrome' 'Legius syndrome' SubClassOf 'developmental defect during embryogenesis' 'Legius syndrome' SubClassOf 'genetic skin disease' 'Legius syndrome' SubClassOf 'hyperpigmentation of the skin' http://purl.obolibrary.org/obo/MONDO_0009012 multiple pterygium-malignant hyperthermia syndrome 'multiple pterygium-malignant hyperthermia syndrome' SubClassOf 'arthrogryposis multiplex congenita' 'multiple pterygium-malignant hyperthermia syndrome' SubClassOf 'congenital nervous system disorder' 'multiple pterygium-malignant hyperthermia syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0009011 constriction rings syndrome 'constriction rings syndrome' SubClassOf 'amniotic band syndrome' http://purl.obolibrary.org/obo/MONDO_0009021 Toriello-Carey syndrome 'Toriello-Carey syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Toriello-Carey syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'Toriello-Carey syndrome' SubClassOf 'orofacial clefting syndrome' http://purl.obolibrary.org/obo/MONDO_0009020 macular corneal dystrophy 'macular corneal dystrophy' SubClassOf 'stromal corneal dystrophy' 'macular corneal dystrophy' SubClassOf 'genetic macular dystrophy' http://purl.obolibrary.org/obo/MONDO_0010001 ectodermal dysplasia-blindness syndrome 'ectodermal dysplasia-blindness syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'ectodermal dysplasia-blindness syndrome' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0010002 Rothmund-Thomson syndrome 'Rothmund-Thomson syndrome' SubClassOf 'telomere syndrome' 'Rothmund-Thomson syndrome' SubClassOf 'hereditary photodermatosis' 'Rothmund-Thomson syndrome' SubClassOf 'progeroid syndrome' 'Rothmund-Thomson syndrome' SubClassOf 'hereditary neoplastic syndrome' 'Rothmund-Thomson syndrome' SubClassOf 'hereditary poikiloderma' 'Rothmund-Thomson syndrome' SubClassOf 'syndromic cataract' http://purl.obolibrary.org/obo/MONDO_0010005 saccharopinuria 'saccharopinuria' SubClassOf 'inborn disorder of lysine and hydroxylysine metabolism' http://purl.obolibrary.org/obo/MONDO_0012664 spastic ataxia 3 'spastic ataxia 3' SubClassOf 'mitochondrial oxidative phosphorylation disorder' 'spastic ataxia 3' SubClassOf 'autosomal recessive spastic ataxia' http://purl.obolibrary.org/obo/MONDO_0010004 EEC syndrome 'EEC syndrome' SubClassOf 'EEC syndrome and related syndrome' 'EEC syndrome' SubClassOf 'dysostosis of genetic origin' 'EEC syndrome' SubClassOf 'congenital limb malformation' 'EEC syndrome' SubClassOf 'autosomal dominant disease' 'EEC syndrome' SubClassOf 'syndromic renal or urinary tract malformation' 'EEC syndrome' SubClassOf 'syndromic urogenital tract malformation' 'EEC syndrome' SubClassOf 'secondary entropion' http://purl.obolibrary.org/obo/MONDO_0012665 cataract 33 'cataract 33' SubClassOf 'early-onset non-syndromic cataract' http://purl.obolibrary.org/obo/MONDO_0009028 Crane-Heise syndrome 'Crane-Heise syndrome' SubClassOf 'syndromic intellectual disability' 'Crane-Heise syndrome' SubClassOf 'congenital nervous system disorder' 'Crane-Heise syndrome' SubClassOf 'orofacial clefting syndrome' 'Crane-Heise syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010017 sea-blue histiocyte syndrome 'sea-blue histiocyte syndrome' SubClassOf 'syndromic dyslipidemia' 'sea-blue histiocyte syndrome' SubClassOf 'disease has feature' some 'histiocytoma' 'sea-blue histiocyte syndrome' SubClassOf 'non-Langerhans cell histiocytosis' 'sea-blue histiocyte syndrome' SubClassOf 'sphingolipidosis' http://purl.obolibrary.org/obo/MONDO_0012679 autosomal recessive osteopetrosis 6 'autosomal recessive osteopetrosis 6' SubClassOf 'autosomal recessive osteopetrosis' http://purl.obolibrary.org/obo/MONDO_0009026 Costello syndrome 'Costello syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Costello syndrome' SubClassOf 'genetic skin disease' 'Costello syndrome' SubClassOf 'intellectual disability, autosomal dominant' 'Costello syndrome' SubClassOf 'dermis elastic tissue disorder' 'Costello syndrome' SubClassOf 'Noonan syndrome and Noonan-related syndrome' 'Costello syndrome' SubClassOf 'syndromic intellectual disability' 'Costello syndrome' SubClassOf 'congenital nervous system disorder' 'Costello syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0009025 apparent mineralocorticoid excess 'apparent mineralocorticoid excess' SubClassOf 'adrenal gland disease' 'apparent mineralocorticoid excess' SubClassOf 'genetic hypertension' 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 'neuro-ophthalmological disease' 'cortical blindness-intellectual disability-polydactyly syndrome' SubClassOf 'congenital nervous system disorder' 'cortical blindness-intellectual disability-polydactyly syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009032 cranioectodermal dysplasia 'cranioectodermal dysplasia' SubClassOf 'craniosynostosis syndrome, autosomal recessive' 'cranioectodermal dysplasia' SubClassOf 'short rib-polydactyly syndrome' 'cranioectodermal dysplasia' SubClassOf 'ectodermal dysplasia syndrome' 'cranioectodermal dysplasia' SubClassOf 'inherited renal tubular disease' 'cranioectodermal dysplasia' SubClassOf 'syndromic craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0010010 Schinzel-Giedion syndrome 'Schinzel-Giedion syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'Schinzel-Giedion syndrome' SubClassOf 'syndromic renal or urinary tract malformation' 'Schinzel-Giedion syndrome' SubClassOf 'syndromic urogenital tract malformation' 'Schinzel-Giedion syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0009031 craniodiaphyseal dysplasia 'craniodiaphyseal dysplasia' SubClassOf 'hyperostosis' 'craniodiaphyseal dysplasia' SubClassOf 'cranial malformation' 'craniodiaphyseal dysplasia' SubClassOf 'craniometaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0010011 schizencephaly 'schizencephaly' SubClassOf 'encephaloclastic disorder' 'schizencephaly' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0010014 craniometadiaphyseal dysplasia, wormian bone type 'craniometadiaphyseal dysplasia, wormian bone type' SubClassOf 'primary bone dysplasia' http://purl.obolibrary.org/obo/MONDO_0010013 schneckenbecken dysplasia 'schneckenbecken dysplasia' SubClassOf 'disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis' 'schneckenbecken dysplasia' SubClassOf 'osteochondrodysplasia' 'schneckenbecken dysplasia' SubClassOf 'congenital disorder of glycosylation-related bone disorder' 'schneckenbecken dysplasia' SubClassOf 'spondylodysplastic dysplasia' http://purl.obolibrary.org/obo/MONDO_0012675 corticosteroid-binding globulin deficiency 'corticosteroid-binding globulin deficiency' SubClassOf 'adrenal gland disease' 'corticosteroid-binding globulin deficiency' SubClassOf 'has modifier' some 'rare' 'corticosteroid-binding globulin deficiency' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0010015 anterior segment dysgenesis 7 'anterior segment dysgenesis 7' SubClassOf 'anterior segment dysgenesis' 'anterior segment dysgenesis 7' SubClassOf 'sclerocornea' 'anterior segment dysgenesis 7' SubClassOf 'syndromic cataract' http://purl.obolibrary.org/obo/MONDO_0010029 situs inversus 'situs inversus' SubClassOf 'genetic cardiac anomaly' 'situs inversus' SubClassOf 'visceral heterotaxy' http://purl.obolibrary.org/obo/MONDO_0009039 Baller-Gerold syndrome 'Baller-Gerold syndrome' SubClassOf 'syndromic craniosynostosis' 'Baller-Gerold syndrome' SubClassOf 'syndromic anorectal malformation' http://purl.obolibrary.org/obo/MONDO_0010028 sialuria 'sialuria' SubClassOf 'disorder of sialic acid metabolism' 'sialuria' SubClassOf 'free sialic acid storage disease' http://purl.obolibrary.org/obo/MONDO_0009038 craniosynostosis-fibular aplasia syndrome 'craniosynostosis-fibular aplasia syndrome' SubClassOf 'syndromic craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0009036 cardiocranial syndrome, Pfeiffer type 'cardiocranial syndrome, Pfeiffer type' SubClassOf 'genetic nervous system disorder' 'cardiocranial syndrome, Pfeiffer type' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'cardiocranial syndrome, Pfeiffer type' SubClassOf 'syndromic craniosynostosis' 'cardiocranial syndrome, Pfeiffer type' SubClassOf 'congenital nervous system disorder' 'cardiocranial syndrome, Pfeiffer type' SubClassOf 'syndromic intellectual disability' 'cardiocranial syndrome, Pfeiffer type' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009034 craniofacial dyssynostosis 'craniofacial dyssynostosis' SubClassOf 'cranial malformation' 'craniofacial dyssynostosis' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009033 temtamy syndrome 'temtamy syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'temtamy syndrome' SubClassOf 'genetic nervous system disorder' 'temtamy syndrome' SubClassOf 'syndromic intellectual disability' 'temtamy syndrome' SubClassOf 'congenital nervous system disorder' 'temtamy syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009043 generalized resistance to thyroid hormone 'generalized resistance to thyroid hormone' SubClassOf 'thyroid hormone resistance syndrome' 'generalized resistance to thyroid hormone' SubClassOf 'Hyperthyroidism' 'generalized resistance to thyroid hormone' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009042 craniotelencephalic dysplasia 'craniotelencephalic dysplasia' SubClassOf 'syndromic craniosynostosis' 'craniotelencephalic dysplasia' SubClassOf 'lissencephaly spectrum disorders' http://purl.obolibrary.org/obo/MONDO_0010023 combined immunodeficiency due to ZAP70 deficiency 'combined immunodeficiency due to ZAP70 deficiency' SubClassOf 'non-SCID combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0012682 immunodeficiency 35 'immunodeficiency 35' SubClassOf 'hereditary predisposition to infections' http://purl.obolibrary.org/obo/MONDO_0012683 pontocerebellar hypoplasia type 6 'pontocerebellar hypoplasia type 6' SubClassOf 'pontocerebellar hypoplasia' 'pontocerebellar hypoplasia type 6' SubClassOf 'mitochondrial oxidative phosphorylation disorder' http://purl.obolibrary.org/obo/MONDO_0010024 Beemer-Langer syndrome 'Beemer-Langer syndrome' SubClassOf 'Jeune syndrome' http://purl.obolibrary.org/obo/MONDO_0010027 free sialic acid storage disease, infantile form 'free sialic acid storage disease, infantile form' SubClassOf 'free sialic acid storage disease' 'free sialic acid storage disease, infantile form' SubClassOf 'bone disease' http://purl.obolibrary.org/obo/MONDO_0010026 SHORT syndrome 'SHORT syndrome' SubClassOf 'genetic lipodystrophy' 'SHORT syndrome' SubClassOf 'diabetes mellitus' 'SHORT syndrome' SubClassOf 'syndromic hyperopia' 'SHORT syndrome' SubClassOf 'progeroid syndrome' 'SHORT syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'SHORT syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'SHORT syndrome' SubClassOf 'developmental anomaly of metabolic origin' 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 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'congenital heart defect-round face-developmental delay syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009046 Fraser syndrome 'Fraser syndrome' SubClassOf 'syndromic renal or urinary tract malformation' 'Fraser syndrome' SubClassOf 'cryptophthalmia' 'Fraser syndrome' SubClassOf 'syndromic genetic hearing loss' 'Fraser syndrome' SubClassOf 'syndromic anorectal malformation' 'Fraser syndrome' SubClassOf 'congenital nervous system disorder' 'Fraser syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Fraser syndrome' SubClassOf 'autosomal recessive disease' 'Fraser syndrome' SubClassOf 'syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0009045 cataract-nephropathy-encephalopathy syndrome 'cataract-nephropathy-encephalopathy syndrome' SubClassOf 'syndromic urogenital tract malformation' 'cataract-nephropathy-encephalopathy syndrome' SubClassOf 'syndromic renal or urinary tract malformation' 'cataract-nephropathy-encephalopathy syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009044 Crigler-Najjar syndrome 'Crigler-Najjar syndrome' SubClassOf 'syndromic disease' 'Crigler-Najjar syndrome' SubClassOf 'has modifier' some 'rare' 'Crigler-Najjar syndrome' SubClassOf 'hereditary hyperbilirubinemia' http://purl.obolibrary.org/obo/MONDO_0009054 autosomal recessive cutis laxa type 2, classic type 'autosomal recessive cutis laxa type 2, classic type' SubClassOf 'autosomal recessive cutis laxa type 2A' http://purl.obolibrary.org/obo/MONDO_0009053 ALDH18A1-related de Barsy syndrome 'ALDH18A1-related de Barsy syndrome' SubClassOf 'developmental anomaly of metabolic origin' 'ALDH18A1-related de Barsy syndrome' SubClassOf 'inherited cutis laxa' 'ALDH18A1-related de Barsy syndrome' SubClassOf 'de Barsy syndrome' 'ALDH18A1-related de Barsy syndrome' SubClassOf 'P5CS deficiency' http://purl.obolibrary.org/obo/MONDO_0010031 Sjogren-Larsson syndrome 'Sjogren-Larsson syndrome' SubClassOf 'neurometabolic disease' 'Sjogren-Larsson syndrome' SubClassOf 'autosomal recessive disease' 'Sjogren-Larsson syndrome' SubClassOf 'autosomal ichthyosis syndrome' 'Sjogren-Larsson syndrome' SubClassOf 'leukodystrophy' 'Sjogren-Larsson syndrome' SubClassOf 'syndromic dyslipidemia' 'Sjogren-Larsson syndrome' SubClassOf 'eye degenerative disorder' 'Sjogren-Larsson syndrome' SubClassOf 'disorder of phospholipids, sphingolipids and fatty acids biosynthesis' http://purl.obolibrary.org/obo/MONDO_0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency 'glycogen storage disease due to muscle and heart glycogen synthase deficiency' SubClassOf 'glycogen storage disease' http://purl.obolibrary.org/obo/MONDO_0010033 generalized peeling skin syndrome 'generalized peeling skin syndrome' SubClassOf 'peeling skin syndrome' http://purl.obolibrary.org/obo/MONDO_0012699 autosomal recessive limb-girdle muscular dystrophy type 2M 'autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf 'muscular dystrophy-dystroglycanopathy, type C' 'autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf 'disorder of O-mannosylglycan synthesis' 'autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' 'autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf 'familial dilated cardiomyopathy' 'autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf 'neurometabolic disease' 'autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf 'myopathy caused by variation in FKTN' http://purl.obolibrary.org/obo/MONDO_0010035 Smith-Lemli-Opitz syndrome 'Smith-Lemli-Opitz syndrome' SubClassOf 'eyelids malposition disorder' 'Smith-Lemli-Opitz syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Smith-Lemli-Opitz syndrome' SubClassOf 'syndromic renal or urinary tract malformation' 'Smith-Lemli-Opitz syndrome' SubClassOf 'syndromic dyslipidemia' 'Smith-Lemli-Opitz syndrome' SubClassOf 'syndromic epicanthus' 'Smith-Lemli-Opitz syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Smith-Lemli-Opitz syndrome' SubClassOf 'cholesterol biosynthetic process disease' 'Smith-Lemli-Opitz syndrome' SubClassOf 'syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0010038 growth delay due to insulin-like growth factor I resistance 'growth delay due to insulin-like growth factor I resistance' SubClassOf 'growth hormone insensitivity syndrome' 'growth delay due to insulin-like growth factor I resistance' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009058 cystathioninuria 'cystathioninuria' SubClassOf 'inborn disorder of methionine cycle and sulfur amino acid metabolism' 'cystathioninuria' SubClassOf 'inherited amino acid metabolic disorder' http://purl.obolibrary.org/obo/MONDO_0010043 hereditary spastic paraplegia 17 'hereditary spastic paraplegia 17' SubClassOf 'autosomal dominant distal hereditary motor neuropathy' 'hereditary spastic paraplegia 17' SubClassOf 'autosomal dominant complex spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0009062 cystic fibrosis-gastritis-megaloblastic anemia syndrome 'cystic fibrosis-gastritis-megaloblastic anemia syndrome' SubClassOf 'genetic gastro-esophageal disease' http://purl.obolibrary.org/obo/MONDO_0010044 hereditary spastic paraplegia 15 'hereditary spastic paraplegia 15' SubClassOf 'autosomal recessive complex spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0009061 cystic fibrosis 'cystic fibrosis' SubClassOf 'has modifier' some 'rare' 'cystic fibrosis' SubClassOf 'autosomal recessive disease' 'cystic fibrosis' SubClassOf 'respiratory system disease' http://purl.obolibrary.org/obo/MONDO_0010047 hereditary spastic paraplegia 5A 'hereditary spastic paraplegia 5A' SubClassOf 'pure or complex autosomal recessive spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0010046 hereditary spastic paraplegia 23 'hereditary spastic paraplegia 23' SubClassOf 'autosomal recessive complex spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0010049 spastic paraplegia-glaucoma-intellectual disability syndrome 'spastic paraplegia-glaucoma-intellectual disability syndrome' SubClassOf 'autosomal recessive complex spastic paraplegia' 'spastic paraplegia-glaucoma-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010041 Charlevoix-Saguenay spastic ataxia 'Charlevoix-Saguenay spastic ataxia' SubClassOf 'autosomal recessive cerebellar ataxia' 'Charlevoix-Saguenay spastic ataxia' SubClassOf 'autosomal recessive spastic ataxia' http://purl.obolibrary.org/obo/MONDO_0009069 congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 'congenital lactic acidosis, Saguenay-Lac-Saint-Jean type' SubClassOf 'congenital nervous system disorder' 'congenital lactic acidosis, Saguenay-Lac-Saint-Jean type' SubClassOf 'Leigh syndrome' http://purl.obolibrary.org/obo/MONDO_0009068 cytochrome-c oxidase deficiency disease 'cytochrome-c oxidase deficiency disease' SubClassOf 'mitochondrial complex deficiency' 'cytochrome-c oxidase deficiency disease' SubClassOf 'isolated oxidative phosphorylation complex disorder' http://purl.obolibrary.org/obo/MONDO_0009067 cystinuria 'cystinuria' SubClassOf 'inherited renal tubular disease' 'cystinuria' SubClassOf 'inherited amino acid metabolic disorder' 'cystinuria' SubClassOf 'syndromic disease' 'cystinuria' SubClassOf 'inborn disorder of amino acid absorption and transport' http://purl.obolibrary.org/obo/MONDO_0009075 Dandy-Walker malformation-postaxial polydactyly syndrome 'Dandy-Walker malformation-postaxial polydactyly syndrome' SubClassOf 'genetic nervous system disorder' 'Dandy-Walker malformation-postaxial polydactyly syndrome' SubClassOf 'central nervous system malformation' 'Dandy-Walker malformation-postaxial polydactyly syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 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' 'facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome' SubClassOf 'central nervous system malformation' 'facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome' SubClassOf 'congenital nervous system disorder' 'facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010056 spinal muscular atrophy, type IV 'spinal muscular atrophy, type IV' SubClassOf 'proximal spinal muscular atrophy' http://purl.obolibrary.org/obo/MONDO_0009071 hereditary renal hypouricemia 'hereditary renal hypouricemia' SubClassOf 'inherited renal tubular disease' http://purl.obolibrary.org/obo/MONDO_0009070 D-glyceric aciduria 'D-glyceric aciduria' SubClassOf 'inborn errors of metabolism' 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' 'spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome' SubClassOf 'syndromic retinitis pigmentosa' http://purl.obolibrary.org/obo/MONDO_0009079 DOORS syndrome 'DOORS syndrome' SubClassOf 'deafness-onychodystrophy syndrome' http://purl.obolibrary.org/obo/MONDO_0009086 deafness-small bowel diverticulosis-neuropathy syndrome 'deafness-small bowel diverticulosis-neuropathy syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0010064 spastic ataxia-corneal dystrophy syndrome 'spastic ataxia-corneal dystrophy syndrome' SubClassOf 'syndromic corneal dystrophy' 'spastic ataxia-corneal dystrophy syndrome' SubClassOf 'autosomal recessive spastic ataxia' http://purl.obolibrary.org/obo/MONDO_0009085 deafness-vitiligo-achalasia syndrome 'deafness-vitiligo-achalasia syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0009084 conductive deafness-ptosis-skeletal anomalies syndrome 'conductive deafness-ptosis-skeletal anomalies syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0010066 familial isolated congenital asplenia 'familial isolated congenital asplenia' SubClassOf 'non-syndromic visceral malformation' 'familial isolated congenital asplenia' SubClassOf 'primary immunodeficiency due to a genetic defect in innate immunity' 'familial isolated congenital asplenia' SubClassOf 'has modifier' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0010069 spondylocostal dysostosis-anal and genitourinary malformations syndrome 'spondylocostal dysostosis-anal and genitourinary malformations syndrome' SubClassOf 'genetic nervous system disorder' 'spondylocostal dysostosis-anal and genitourinary malformations syndrome' SubClassOf 'syndromic intellectual disability' 'spondylocostal dysostosis-anal and genitourinary malformations syndrome' SubClassOf 'syndromic urogenital tract malformation' 'spondylocostal dysostosis-anal and genitourinary malformations syndrome' SubClassOf 'syndromic anorectal malformation' 'spondylocostal dysostosis-anal and genitourinary malformations syndrome' SubClassOf 'syndromic uterovaginal malformation' 'spondylocostal dysostosis-anal and genitourinary malformations syndrome' SubClassOf 'dysostosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0009082 high myopia-sensorineural deafness syndrome 'high myopia-sensorineural deafness syndrome' SubClassOf 'syndromic myopia' 'high myopia-sensorineural deafness syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0010068 spondyloepimetaphyseal dysplasia, sponastrime type 'spondyloepimetaphyseal dysplasia, sponastrime type' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0009080 split hand-foot malformation 1 with sensorineural hearing loss 'split hand-foot malformation 1 with sensorineural hearing loss' SubClassOf 'dysostosis of genetic origin' 'split hand-foot malformation 1 with sensorineural hearing loss' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'split hand-foot malformation 1 with sensorineural hearing loss' SubClassOf 'syndromic genetic hearing loss' 'split hand-foot malformation 1 with sensorineural hearing loss' SubClassOf 'congenital nervous system disorder' 'split hand-foot malformation 1 with sensorineural hearing loss' SubClassOf 'congenital limb malformation' http://purl.obolibrary.org/obo/MONDO_0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome 'autosomal recessive cerebellar ataxia-blindness-deafness syndrome' SubClassOf 'autosomal recessive syndromic cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0010060 infantile onset spinocerebellar ataxia 'infantile onset spinocerebellar ataxia' SubClassOf 'autosomal recessive degenerative and progressive cerebellar ataxia' 'infantile onset spinocerebellar ataxia' SubClassOf 'mitochondrial DNA depletion syndrome, hepatocerebral form' http://purl.obolibrary.org/obo/MONDO_0010063 corneal-cerebellar syndrome 'corneal-cerebellar syndrome' SubClassOf 'eye degenerative disorder' 'corneal-cerebellar syndrome' SubClassOf 'syndromic corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0010062 spinocerebellar ataxia-dysmorphism syndrome 'spinocerebellar ataxia-dysmorphism syndrome' SubClassOf 'hereditary ataxia' http://purl.obolibrary.org/obo/MONDO_0009089 deafness-oligodontia syndrome 'deafness-oligodontia syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0010076 spondyloepimetaphyseal dysplasia, Irapa type 'spondyloepimetaphyseal dysplasia, Irapa type' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0009097 persistent hyperplastic primary vitreous, autosomal recessive 'persistent hyperplastic primary vitreous, autosomal recessive' SubClassOf 'persistent hyperplastic primary vitreous' 'persistent hyperplastic primary vitreous, autosomal recessive' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0009096 hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia 'hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0010078 spondyloperipheral dysplasia-short ulna syndrome 'spondyloperipheral dysplasia-short ulna syndrome' SubClassOf 'type 2 collagenopathy' 'spondyloperipheral dysplasia-short ulna syndrome' SubClassOf 'hereditary disorder of connective tissue' 'spondyloperipheral dysplasia-short ulna syndrome' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0009095 dermatoosteolysis, Kirghizian type 'dermatoosteolysis, Kirghizian type' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome 'spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome' SubClassOf 'spondyloepiphyseal dysplasia' 'spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009094 dermochondrocorneal dystrophy 'dermochondrocorneal dystrophy' SubClassOf 'dermis disorder' 'dermochondrocorneal dystrophy' SubClassOf 'syndromic corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0010079 Canavan disease 'Canavan disease' SubClassOf 'leukodystrophy' 'Canavan disease' SubClassOf 'neurometabolic disease' 'Canavan disease' SubClassOf 'inborn aminoacylase deficiency' http://purl.obolibrary.org/obo/MONDO_0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly 'polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly' SubClassOf 'autosomal recessive disease' 'polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly' SubClassOf 'leukodystrophy' 'polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly' SubClassOf 'primary osteolysis' http://purl.obolibrary.org/obo/MONDO_0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities 'non-acquired combined pituitary hormone deficiency with spine abnormalities' SubClassOf 'non-acquired combined pituitary hormone deficiency' 'non-acquired combined pituitary hormone deficiency with spine abnormalities' SubClassOf 'combined pituitary hormone deficiencies, genetic form' http://purl.obolibrary.org/obo/MONDO_0010070 brachyolmia type 1, Hobaek type 'brachyolmia type 1, Hobaek type' SubClassOf 'autosomal recessive brachyolmia' http://purl.obolibrary.org/obo/MONDO_0010074 brachyolmia type 1, toledo type 'brachyolmia type 1, toledo type' SubClassOf 'autosomal recessive brachyolmia' http://purl.obolibrary.org/obo/MONDO_0010073 spondyloepiphyseal dysplasia tarda, Kohn type 'spondyloepiphyseal dysplasia tarda, Kohn type' SubClassOf 'syndromic intellectual disability' 'spondyloepiphyseal dysplasia tarda, Kohn type' SubClassOf 'spondyloepiphyseal dysplasia tarda' http://purl.obolibrary.org/obo/MONDO_0000507 inclusion body myopathy with Paget disease of bone and frontotemporal dementia 'inclusion body myopathy with Paget disease of bone and frontotemporal dementia' SubClassOf 'frontotemporal dementia' 'inclusion body myopathy with Paget disease of bone and frontotemporal dementia' SubClassOf 'inclusion myopathy' 'inclusion body myopathy with Paget disease of bone and frontotemporal dementia' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0012503 thiopurine S-methyltransferase deficiency 'thiopurine S-methyltransferase deficiency' SubClassOf 'thiopurine metabolic disease' http://purl.obolibrary.org/obo/MONDO_0012504 camptodactyly-tall stature-scoliosis-hearing loss syndrome 'camptodactyly-tall stature-scoliosis-hearing loss syndrome' SubClassOf 'dysostosis of genetic origin' 'camptodactyly-tall stature-scoliosis-hearing loss syndrome' SubClassOf 'autosomal genetic disease' 'camptodactyly-tall stature-scoliosis-hearing loss syndrome' SubClassOf 'FGFR3-related chondrodysplasia' http://purl.obolibrary.org/obo/MONDO_0012508 agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome 'agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome' SubClassOf 'genetic skin disease' 'agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome' SubClassOf 'genetic nervous system disorder' 'agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome' SubClassOf 'syndromic agammaglobulinemia' '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 'congenital agammaglobulinemia' 'agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0012502 normophosphatemic familial tumoral calcinosis 'normophosphatemic familial tumoral calcinosis' SubClassOf 'familial tumoral calcinosis' http://purl.obolibrary.org/obo/MONDO_0012516 mandibulofacial dysostosis-microcephaly syndrome 'mandibulofacial dysostosis-microcephaly syndrome' SubClassOf 'syndromic intellectual disability' 'mandibulofacial dysostosis-microcephaly syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'mandibulofacial dysostosis-microcephaly syndrome' SubClassOf 'intellectual disability, autosomal dominant' 'mandibulofacial dysostosis-microcephaly syndrome' SubClassOf 'acrofacial dysostosis' 'mandibulofacial dysostosis-microcephaly syndrome' SubClassOf 'branchial arch or oral-acral syndrome' 'mandibulofacial dysostosis-microcephaly syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'mandibulofacial dysostosis-microcephaly syndrome' SubClassOf 'orofacial clefting syndrome' 'mandibulofacial dysostosis-microcephaly syndrome' SubClassOf 'congenital nervous system disorder' 'mandibulofacial dysostosis-microcephaly syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0012517 atypical Gaucher disease due to saposin C deficiency 'atypical Gaucher disease due to saposin C deficiency' SubClassOf 'Gaucher disease' http://purl.obolibrary.org/obo/MONDO_0012514 hypomyelinating leukodystrophy 5 'hypomyelinating leukodystrophy 5' SubClassOf 'eye degenerative disorder' 'hypomyelinating leukodystrophy 5' SubClassOf 'syndromic cataract' 'hypomyelinating leukodystrophy 5' SubClassOf 'syndromic intellectual disability' 'hypomyelinating leukodystrophy 5' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0012519 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion 'Rubinstein-Taybi syndrome due to 16p13.3 microdeletion' SubClassOf 'chromosome 16p13.3 deletion syndrome' http://purl.obolibrary.org/obo/MONDO_0012512 fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 'fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0012510 combined oxidative phosphorylation defect type 2 'combined oxidative phosphorylation defect type 2' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0012526 hereditary angioedema type 3 'hereditary angioedema type 3' SubClassOf 'hereditary angioedema with normal C1Inh' 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 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0012521 herpes simplex encephalitis 'herpes simplex encephalitis' SubClassOf 'viral encephalitis' 'herpes simplex encephalitis' SubClassOf 'Herpes simplex infection' 'herpes simplex encephalitis' SubClassOf 'genetic nervous system disorder' 'herpes simplex encephalitis' SubClassOf 'hereditary predisposition to infections' http://purl.obolibrary.org/obo/MONDO_0012530 palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome 'palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome' SubClassOf 'autosomal recessive disease' 'palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome' SubClassOf '46,XX disorder of sex development' 'palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome' SubClassOf 'diffuse palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0012531 xeroderma pigmentosum group B 'xeroderma pigmentosum group B' SubClassOf 'xeroderma pigmentosum' 'xeroderma pigmentosum group B' SubClassOf 'xeroderma pigmentosum-Cockayne syndrome complex' http://purl.obolibrary.org/obo/MONDO_0012534 combined oxidative phosphorylation defect type 4 'combined oxidative phosphorylation defect type 4' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0012549 autosomal recessive ataxia, Beauce type 'autosomal recessive ataxia, Beauce type' SubClassOf 'autosomal recessive cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0012548 Kostmann syndrome 'Kostmann syndrome' SubClassOf 'hereditary neoplastic syndrome' 'Kostmann syndrome' SubClassOf 'autosomal recessive severe congenital neutropenia' http://purl.obolibrary.org/obo/MONDO_0012541 deafness with labyrinthine aplasia, microtia, and microdontia 'deafness with labyrinthine aplasia, microtia, and microdontia' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0012545 neutral lipid storage myopathy 'neutral lipid storage myopathy' SubClassOf 'neutral lipid storage disease' http://purl.obolibrary.org/obo/HP_0007359 Focal-onset seizure 'Focal-onset seizure' SubClassOf 'Seizure' http://purl.obolibrary.org/obo/MONDO_0012544 brachydactyly-syndactyly syndrome 'brachydactyly-syndactyly syndrome' SubClassOf 'autosomal genetic disease' http://purl.obolibrary.org/obo/MONDO_0012559 primary immunodeficiency syndrome due to p14 deficiency 'primary immunodeficiency syndrome due to p14 deficiency' SubClassOf 'constitutional neutropenia' http://purl.obolibrary.org/obo/MONDO_0012552 multiple endocrine neoplasia type 4 'multiple endocrine neoplasia type 4' SubClassOf 'autosomal dominant disease' 'multiple endocrine neoplasia type 4' SubClassOf 'hereditary neoplastic syndrome' 'multiple endocrine neoplasia type 4' SubClassOf 'multiple endocrine neoplasia' http://purl.obolibrary.org/obo/MONDO_0012556 DK1-CDG 'DK1-CDG' SubClassOf 'congenital disorder of glycosylation type I' 'DK1-CDG' SubClassOf 'autosomal ichthyosis syndrome' 'DK1-CDG' SubClassOf 'familial dilated cardiomyopathy' 'DK1-CDG' SubClassOf 'disorder of multiple glycosylation' http://purl.obolibrary.org/obo/MONDO_0012557 cardiomyopathy-hypotonia-lactic acidosis syndrome 'cardiomyopathy-hypotonia-lactic acidosis syndrome' SubClassOf 'autosomal recessive disease' 'cardiomyopathy-hypotonia-lactic acidosis syndrome' SubClassOf 'familial hypertrophic cardiomyopathy' 'cardiomyopathy-hypotonia-lactic acidosis syndrome' SubClassOf 'mitochondrial substrate carrier disorder' 'cardiomyopathy-hypotonia-lactic acidosis syndrome' SubClassOf 'lactic acidosis' http://purl.obolibrary.org/obo/MONDO_0012574 Potocki-Lupski syndrome 'Potocki-Lupski syndrome' SubClassOf 'partial duplication of the short arm of chromosome 17' 'Potocki-Lupski syndrome' SubClassOf 'genetic nervous system disorder' 'Potocki-Lupski syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0024548 peeling skin syndrome 1 'peeling skin syndrome 1' SubClassOf 'generalized peeling skin syndrome' http://purl.obolibrary.org/obo/MONDO_0012570 body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency 'body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency' SubClassOf 'genetic skin disease' 'body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency' SubClassOf 'dermis elastic tissue disorder' 'body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency' SubClassOf 'disease shares features of' some 'pseudoxanthoma elasticum (inherited or acquired)' http://purl.obolibrary.org/obo/MONDO_0012589 Pitt-Hopkins syndrome 'Pitt-Hopkins syndrome' SubClassOf 'monogenic epilepsy' 'Pitt-Hopkins syndrome' SubClassOf 'syndromic intellectual disability' 'Pitt-Hopkins syndrome' SubClassOf 'congenital nervous system disorder' 'Pitt-Hopkins syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Pitt-Hopkins syndrome' SubClassOf 'genetic nervous system disorder' 'Pitt-Hopkins syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0012588 neuronal ceroid lipofuscinosis 7 'neuronal ceroid lipofuscinosis 7' SubClassOf 'late infantile neuronal ceroid lipofuscinosis' http://purl.obolibrary.org/obo/MONDO_0012580 hereditary pulmonary alveolar proteinosis 'hereditary pulmonary alveolar proteinosis' SubClassOf 'quantitative and/or qualitative congenital phagocyte defect' 'hereditary pulmonary alveolar proteinosis' EquivalentTo 'pulmonary alveolar proteinosis' and ('has modifier' some 'inherited') 'hereditary pulmonary alveolar proteinosis' SubClassOf 'pulmonary alveolar proteinosis' http://purl.obolibrary.org/obo/MONDO_0024568 infantile liver failure syndrome 1 'infantile liver failure syndrome 1' SubClassOf 'infantile liver failure' http://purl.obolibrary.org/obo/MONDO_0012596 PSAT deficiency 'PSAT deficiency' SubClassOf 'neurometabolic disorder due to serine deficiency' 'PSAT deficiency' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0012594 complement factor I deficiency 'complement factor I deficiency' SubClassOf 'complement deficiency' http://purl.obolibrary.org/obo/MONDO_0012593 brain-lung-thyroid syndrome 'brain-lung-thyroid syndrome' SubClassOf 'syndromic intellectual disability' 'brain-lung-thyroid syndrome' SubClassOf 'genetic nervous system disorder' 'brain-lung-thyroid syndrome' SubClassOf 'syndromic hypothyroidism' 'brain-lung-thyroid syndrome' SubClassOf 'movement disorder' 'brain-lung-thyroid syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0012591 osteogenesis imperfecta type 5 'osteogenesis imperfecta type 5' SubClassOf 'osteogenesis imperfecta' http://purl.obolibrary.org/obo/MONDO_0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome 'osteosclerosis-ichthyosis-premature ovarian failure syndrome' SubClassOf 'autosomal ichthyosis syndrome' 'osteosclerosis-ichthyosis-premature ovarian failure syndrome' SubClassOf 'inherited primary ovarian failure' http://purl.obolibrary.org/obo/MONDO_0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency 'primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency' SubClassOf 'primary immunodeficiency due to a defect in adaptive immunity' 'primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0012381 hyperinsulinism due to INSR deficiency 'hyperinsulinism due to INSR deficiency' SubClassOf 'familial hyperinsulinism' http://purl.obolibrary.org/obo/MONDO_0012382 hyperinsulinemic hypoglycemia, familial, 4 'hyperinsulinemic hypoglycemia, familial, 4' SubClassOf 'cerebral organic aciduria' 'hyperinsulinemic hypoglycemia, familial, 4' SubClassOf '3-hydroxyacyl-CoA dehydrogenase deficiency' 'hyperinsulinemic hypoglycemia, familial, 4' SubClassOf 'neurometabolic disease' 'hyperinsulinemic hypoglycemia, familial, 4' SubClassOf 'diazoxide-sensitive diffuse hyperinsulinism' http://purl.obolibrary.org/obo/MONDO_0012399 complex cortical dysplasia with other brain malformations 7 'complex cortical dysplasia with other brain malformations 7' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'complex cortical dysplasia with other brain malformations 7' SubClassOf 'complex cortical dysplasia with other brain malformations' 'complex cortical dysplasia with other brain malformations 7' SubClassOf 'bilateral frontal polymicrogyria' 'complex cortical dysplasia with other brain malformations 7' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0012396 exercise-induced hyperinsulinism 'exercise-induced hyperinsulinism' SubClassOf 'disorder of carbohydrate absorption and transport' 'exercise-induced hyperinsulinism' SubClassOf 'diazoxide-sensitive diffuse hyperinsulinism' http://purl.obolibrary.org/obo/MONDO_0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant 'neuronal ceroid lipofuscinosis 8 northern epilepsy variant' SubClassOf 'syndromic dyslipidemia' 'neuronal ceroid lipofuscinosis 8 northern epilepsy variant' SubClassOf 'neuronal ceroid lipofuscinosis 8' 'neuronal ceroid lipofuscinosis 8 northern epilepsy variant' SubClassOf 'monogenic epilepsy' http://purl.obolibrary.org/obo/MONDO_0012392 2-methylbutyryl-CoA dehydrogenase deficiency '2-methylbutyryl-CoA dehydrogenase deficiency' SubClassOf 'classic organic aciduria' '2-methylbutyryl-CoA dehydrogenase deficiency' SubClassOf 'cerebral organic aciduria' '2-methylbutyryl-CoA dehydrogenase deficiency' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0012393 congenital brain dysgenesis due to glutamine synthetase deficiency 'congenital brain dysgenesis due to glutamine synthetase deficiency' SubClassOf 'congenital nervous system disorder' 'congenital brain dysgenesis due to glutamine synthetase deficiency' SubClassOf 'neurometabolic disease' 'congenital brain dysgenesis due to glutamine synthetase deficiency' SubClassOf 'disorder of glutamine metabolism' http://purl.obolibrary.org/obo/HP_0030051 Tip-toe gait 'Tip-toe gait' SubClassOf 'Gait disturbance' http://purl.obolibrary.org/obo/MONDO_0012407 pyridoxal phosphate-responsive seizures 'pyridoxal phosphate-responsive seizures' SubClassOf 'metabolic epilepsy' 'pyridoxal phosphate-responsive seizures' SubClassOf 'inborn disorder of pyridoxine metabolism' 'pyridoxal phosphate-responsive seizures' SubClassOf 'disorder of other vitamins and cofactors metabolism and transport' 'pyridoxal phosphate-responsive seizures' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0012400 cortical dysplasia-focal epilepsy syndrome 'cortical dysplasia-focal epilepsy syndrome' SubClassOf 'genetic nervous system disorder' 'cortical dysplasia-focal epilepsy syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'cortical dysplasia-focal epilepsy syndrome' SubClassOf 'epilepsy syndrome' 'cortical dysplasia-focal epilepsy syndrome' SubClassOf 'Pitt-Hopkins-like syndrome' http://purl.obolibrary.org/obo/MONDO_0012401 congenital stromal corneal dystrophy 'congenital stromal corneal dystrophy' SubClassOf 'stromal corneal dystrophy' 'congenital stromal corneal dystrophy' SubClassOf 'genetic disorder' 'congenital stromal corneal dystrophy' SubClassOf 'has modifier' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0012417 heart-hand syndrome, Slovenian type 'heart-hand syndrome, Slovenian type' SubClassOf 'heart-hand syndrome' 'heart-hand syndrome, Slovenian type' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0012410 Finnish upper limb-onset distal myopathy 'Finnish upper limb-onset distal myopathy' SubClassOf 'autosomal dominant distal myopathy' http://purl.obolibrary.org/obo/MONDO_0012413 syndromic microphthalmia type 5 'syndromic microphthalmia type 5' SubClassOf 'syndromic microphthalmia' http://purl.obolibrary.org/obo/MONDO_0012414 neuronal ceroid lipofuscinosis 10 'neuronal ceroid lipofuscinosis 10' SubClassOf 'juvenile neuronal ceroid lipofuscinosis' 'neuronal ceroid lipofuscinosis 10' SubClassOf 'adult neuronal ceroid lipofuscinosis' 'neuronal ceroid lipofuscinosis 10' SubClassOf 'late infantile neuronal ceroid lipofuscinosis' http://purl.obolibrary.org/obo/MONDO_0012411 giant axonal neuropathy 2 'giant axonal neuropathy 2' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'giant axonal neuropathy 2' SubClassOf 'giant axonal neuropathy' http://purl.obolibrary.org/obo/MONDO_0012423 MORM syndrome 'MORM syndrome' SubClassOf 'syndromic genetic obesity' 'MORM syndrome' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0000453 short QT syndrome 'short QT syndrome' SubClassOf 'genetic disorder' 'short QT syndrome' SubClassOf 'heart conduction disease' http://purl.obolibrary.org/obo/MONDO_0000455 cone dystrophy 'cone dystrophy' SubClassOf 'genetic macular dystrophy' http://purl.obolibrary.org/obo/MONDO_0012439 Alagille syndrome due to a NOTCH2 point mutation 'Alagille syndrome due to a NOTCH2 point mutation' SubClassOf 'Alagille syndrome' http://purl.obolibrary.org/obo/MONDO_0012438 pontocerebellar hypoplasia type 5 'pontocerebellar hypoplasia type 5' SubClassOf 'pontocerebellar hypoplasia' http://purl.obolibrary.org/obo/MONDO_0012435 3-methylglutaconic aciduria type 5 '3-methylglutaconic aciduria type 5' SubClassOf '3-methylglutaconic aciduria' http://purl.obolibrary.org/obo/MONDO_0012436 neonatal diabetes mellitus with congenital hypothyroidism 'neonatal diabetes mellitus with congenital hypothyroidism' SubClassOf 'inborn errors of metabolism' 'neonatal diabetes mellitus with congenital hypothyroidism' SubClassOf 'neonatal diabetes mellitus' 'neonatal diabetes mellitus with congenital hypothyroidism' SubClassOf 'familial cystic renal disease' 'neonatal diabetes mellitus with congenital hypothyroidism' SubClassOf 'has modifier' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0000463 Ochoa syndrome 'Ochoa syndrome' SubClassOf 'autosomal recessive disease' 'Ochoa syndrome' SubClassOf 'syndromic renal or urinary tract malformation' http://purl.obolibrary.org/obo/MONDO_0012449 spinocerebellar ataxia type 23 'spinocerebellar ataxia type 23' SubClassOf 'autosomal dominant cerebellar ataxia type I' http://purl.obolibrary.org/obo/MONDO_0012446 seborrhea-like dermatitis with psoriasiform elements 'seborrhea-like dermatitis with psoriasiform elements' SubClassOf 'genetic skin disease' 'seborrhea-like dermatitis with psoriasiform elements' SubClassOf 'epidermal disease' http://purl.obolibrary.org/obo/MONDO_0012447 synpolydactyly type 3 'synpolydactyly type 3' SubClassOf 'non-syndromic synpolydactyly' http://purl.obolibrary.org/obo/MONDO_0012453 hereditary spastic paraplegia 31 'hereditary spastic paraplegia 31' SubClassOf 'pure or complex autosomal dominant spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0012455 Kleefstra syndrome 'Kleefstra syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Kleefstra syndrome' SubClassOf 'syndromic intellectual disability' 'Kleefstra syndrome' SubClassOf 'genetic nervous system disorder' 'Kleefstra syndrome' SubClassOf 'congenital nervous system disorder' 'Kleefstra syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0012456 congenital primary aphakia 'congenital primary aphakia' SubClassOf 'lens disease' 'congenital primary aphakia' SubClassOf 'anterior segment dysgenesis' http://purl.obolibrary.org/obo/MONDO_0012450 spinocerebellar ataxia type 28 'spinocerebellar ataxia type 28' SubClassOf 'autosomal dominant cerebellar ataxia type I' 'spinocerebellar ataxia type 28' SubClassOf 'mitochondrial oxidative phosphorylation disorder' http://purl.obolibrary.org/obo/MONDO_0000485 spasmodic dystonia 'spasmodic dystonia' SubClassOf 'focal dystonia' 'spasmodic dystonia' SubClassOf 'laryngeal disease' http://purl.obolibrary.org/obo/MONDO_0024457 neurodegeneration with brain iron accumulation 2A 'neurodegeneration with brain iron accumulation 2A' SubClassOf 'genetic peripheral neuropathy' 'neurodegeneration with brain iron accumulation 2A' SubClassOf 'PLA2G6-associated neurodegeneration' http://purl.obolibrary.org/obo/MONDO_0000481 cervical dystonia 'cervical dystonia' SubClassOf 'focal dystonia' http://purl.obolibrary.org/obo/MONDO_0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency 'hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency' SubClassOf 'inherited blood coagulation disorder' 'hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency' SubClassOf 'neurometabolic disease' 'hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency' SubClassOf 'congenital hematological disorder' 'hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency' SubClassOf 'congenital nervous system disorder' 'hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency' SubClassOf 'inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' http://purl.obolibrary.org/obo/MONDO_0012462 autosomal recessive frontotemporal pachygyria 'autosomal recessive frontotemporal pachygyria' SubClassOf 'cerebral malformation' http://purl.obolibrary.org/obo/MONDO_0012475 cone dystrophy with supernormal rod response 'cone dystrophy with supernormal rod response' SubClassOf 'cone dystrophy' http://purl.obolibrary.org/obo/MONDO_0012476 hereditary spastic paraplegia 30 'hereditary spastic paraplegia 30' SubClassOf 'pure or complex autosomal dominant spastic paraplegia' 'hereditary spastic paraplegia 30' SubClassOf 'pure or complex autosomal recessive spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0012479 congenital malabsorptive diarrhea 4 'congenital malabsorptive diarrhea 4' SubClassOf 'congenital enteropathy involving intestinal mucosa development' 'congenital malabsorptive diarrhea 4' SubClassOf 'congenital diarrhea' http://purl.obolibrary.org/obo/MONDO_0012481 mevalonic aciduria 'mevalonic aciduria' SubClassOf 'eye disease' 'mevalonic aciduria' SubClassOf 'mevalonate kinase deficiency' http://purl.obolibrary.org/obo/MONDO_0012495 spondyloepimetaphyseal dysplasia, Genevieve type 'spondyloepimetaphyseal dysplasia, Genevieve type' SubClassOf 'genetic disorder' 'spondyloepimetaphyseal dysplasia, Genevieve type' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0012496 Koolen-de Vries syndrome 'Koolen-de Vries syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Koolen-de Vries syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0024257 hereditary motor neuron disease 'hereditary motor neuron disease' EquivalentTo 'motor neuron disease' and ('has modifier' some 'inherited') 'hereditary motor neuron disease' SubClassOf 'inherited neurodegenerative disorder' 'hereditary motor neuron disease' SubClassOf 'motor neuron disease' 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 'neuro-ophthalmological disease' 'global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome' SubClassOf 'monogenic epilepsy' http://purl.obolibrary.org/obo/MONDO_0012269 chromosome 3q29 microdeletion syndrome 'chromosome 3q29 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 3' http://purl.obolibrary.org/obo/MONDO_0012277 myofibrillar myopathy 4 'myofibrillar myopathy 4' SubClassOf 'myofibrillar myopathy' 'myofibrillar myopathy 4' SubClassOf 'autosomal dominant distal myopathy' 'myofibrillar myopathy 4' SubClassOf 'qualitative or quantitative defects of protein ZASP' http://purl.obolibrary.org/obo/MONDO_0012276 generalized epilepsy-paroxysmal dyskinesia syndrome 'generalized epilepsy-paroxysmal dyskinesia syndrome' SubClassOf 'familial partial epilepsy' http://purl.obolibrary.org/obo/MONDO_0012271 mesoaxial synostotic syndactyly with phalangeal reduction 'mesoaxial synostotic syndactyly with phalangeal reduction' SubClassOf 'non-syndromic syndactyly' http://purl.obolibrary.org/obo/MONDO_0012289 myofibrillar myopathy 5 'myofibrillar myopathy 5' SubClassOf 'qualitative or quantitative defects of filamin C' 'myofibrillar myopathy 5' SubClassOf 'myofibrillar myopathy' http://purl.obolibrary.org/obo/MONDO_0012280 Goldberg-Shprintzen megacolon syndrome 'Goldberg-Shprintzen megacolon syndrome' SubClassOf 'eyelids malposition disorder' 'Goldberg-Shprintzen megacolon syndrome' SubClassOf 'syndromic anorectal malformation' 'Goldberg-Shprintzen megacolon syndrome' SubClassOf 'genetic nervous system disorder' 'Goldberg-Shprintzen megacolon syndrome' SubClassOf 'congenital nervous system disorder' 'Goldberg-Shprintzen megacolon syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Goldberg-Shprintzen megacolon syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'Goldberg-Shprintzen megacolon syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Goldberg-Shprintzen megacolon syndrome' SubClassOf 'syndromic intellectual disability' 'Goldberg-Shprintzen megacolon syndrome' SubClassOf 'orofacial clefting syndrome' 'Goldberg-Shprintzen megacolon syndrome' SubClassOf 'intestinal motility disease' http://purl.obolibrary.org/obo/MONDO_0012297 SPOAN syndrome 'SPOAN syndrome' SubClassOf 'spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder' http://purl.obolibrary.org/obo/MONDO_0012290 CEDNIK syndrome 'CEDNIK syndrome' SubClassOf 'diffuse palmoplantar keratoderma' 'CEDNIK syndrome' SubClassOf 'autosomal ichthyosis syndrome' 'CEDNIK syndrome' SubClassOf 'genetic nervous system disorder' 'CEDNIK syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0012296 lipomyelomeningocele 'lipomyelomeningocele' SubClassOf 'neural tube closure defect' http://purl.obolibrary.org/obo/MONDO_0012307 familial scaphocephaly syndrome, McGillivray type 'familial scaphocephaly syndrome, McGillivray type' SubClassOf 'familial scaphocephaly syndrome' http://purl.obolibrary.org/obo/MONDO_0012308 Joubert syndrome with renal defect 'Joubert syndrome with renal defect' SubClassOf 'Joubert syndrome' 'Joubert syndrome with renal defect' SubClassOf 'nephropathy-associated ciliopathy' 'Joubert syndrome with renal defect' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Joubert syndrome with renal defect' SubClassOf 'familial cystic renal disease' http://purl.obolibrary.org/obo/MONDO_0014962 intellectual disability, autosomal recessive 57 'intellectual disability, autosomal recessive 57' SubClassOf 'autosomal recessive non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0012301 mitochondrial DNA depletion syndrome, myopathic form 'mitochondrial DNA depletion syndrome, myopathic form' SubClassOf 'inborn disorder of pyrimidine metabolism' 'mitochondrial DNA depletion syndrome, myopathic form' SubClassOf 'mitochondrial DNA depletion syndrome' http://purl.obolibrary.org/obo/MONDO_0012316 Majeed syndrome 'Majeed syndrome' SubClassOf 'constitutional dyserythropoietic anemia' 'Majeed syndrome' SubClassOf 'hereditary disorder of connective tissue' 'Majeed syndrome' SubClassOf 'pyogenic autoinflammatory syndrome' 'Majeed syndrome' SubClassOf 'primary immunodeficiency due to a genetic defect in innate immunity' http://purl.obolibrary.org/obo/MONDO_0012315 distal 10q deletion syndrome 'distal 10q deletion syndrome' SubClassOf 'partial monosomy of the long arm of chromosome 10' http://purl.obolibrary.org/obo/MONDO_0012323 lethal acantholytic epidermolysis bullosa 'lethal acantholytic epidermolysis bullosa' SubClassOf 'suprabasal epidermolysis bullosa simplex' http://purl.obolibrary.org/obo/MONDO_0012324 Frias syndrome 'Frias syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Frias syndrome' SubClassOf 'partial deletion of the long arm of chromosome 14' http://purl.obolibrary.org/obo/MONDO_0024300 hypophosphatemic rickets 'hypophosphatemic rickets' SubClassOf 'rickets' http://purl.obolibrary.org/obo/MONDO_0000355 Ullrich congenital muscular dystrophy 'Ullrich congenital muscular dystrophy' SubClassOf 'congenital muscular dystrophy' 'Ullrich congenital muscular dystrophy' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0012332 short stature-delayed bone age due to thyroid hormone metabolism deficiency 'short stature-delayed bone age due to thyroid hormone metabolism deficiency' SubClassOf 'genetic disorder' 'short stature-delayed bone age due to thyroid hormone metabolism deficiency' SubClassOf 'peripheral hypothyroidism' http://purl.obolibrary.org/obo/MONDO_0012330 talo-patello-scaphoid osteolysis 'talo-patello-scaphoid osteolysis' SubClassOf 'primary osteolysis' http://purl.obolibrary.org/obo/MONDO_0012334 hereditary spastic paraplegia 29 'hereditary spastic paraplegia 29' SubClassOf 'autosomal dominant complex spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0012335 obesity due to pro-opiomelanocortin deficiency 'obesity due to pro-opiomelanocortin deficiency' SubClassOf 'genetic non-syndromic obesity' http://purl.obolibrary.org/obo/MONDO_0012342 7q11.23 microduplication syndrome '7q11.23 microduplication syndrome' SubClassOf 'partial duplication of the long arm of chromosome 7' http://purl.obolibrary.org/obo/MONDO_0012345 acral peeling skin syndrome 'acral peeling skin syndrome' SubClassOf 'peeling skin syndrome' http://purl.obolibrary.org/obo/MONDO_0012354 platelet-type bleeding disorder 8 'platelet-type bleeding disorder 8' SubClassOf 'inherited bleeding disorder, platelet-type' 'platelet-type bleeding disorder 8' SubClassOf 'inherited blood coagulation disorder' http://purl.obolibrary.org/obo/MONDO_0012359 combined immunodeficiency due to partial RAG1 deficiency 'combined immunodeficiency due to partial RAG1 deficiency' SubClassOf 'T-B- severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0012351 zygodactyly type 1 'zygodactyly type 1' SubClassOf 'syndactyly type 1' http://purl.obolibrary.org/obo/MONDO_0012368 aminoacylase 1 deficiency 'aminoacylase 1 deficiency' SubClassOf 'inborn aminoacylase deficiency' 'aminoacylase 1 deficiency' SubClassOf 'neurometabolic disease' 'aminoacylase 1 deficiency' SubClassOf 'inherited amino acid metabolic disorder' http://purl.obolibrary.org/obo/MONDO_0012143 hereditary cryohydrocytosis with reduced stomatin 'hereditary cryohydrocytosis with reduced stomatin' SubClassOf 'hereditary stomatocytosis' 'hereditary cryohydrocytosis with reduced stomatin' SubClassOf 'syndromic intellectual disability' 'hereditary cryohydrocytosis with reduced stomatin' SubClassOf 'familial hemolytic anemia' 'hereditary cryohydrocytosis with reduced stomatin' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0000179 Neu-Laxova syndrome 'Neu-Laxova syndrome' SubClassOf 'lissencephaly type 3' 'Neu-Laxova syndrome' SubClassOf 'developmental anomaly of metabolic origin' 'Neu-Laxova syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Neu-Laxova syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Neu-Laxova syndrome' SubClassOf 'autosomal ichthyosis syndrome' 'Neu-Laxova syndrome' SubClassOf '3-phosphoglycerate dehydrogenase deficiency' http://purl.obolibrary.org/obo/MONDO_0000181 microcephaly and chorioretinopathy 'microcephaly and chorioretinopathy' SubClassOf 'chorioretinitis' 'microcephaly and chorioretinopathy' SubClassOf 'genetic nervous system disorder' 'microcephaly and chorioretinopathy' SubClassOf 'microcephaly' http://purl.obolibrary.org/obo/MONDO_0012165 BNAR syndrome 'BNAR syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'BNAR syndrome' SubClassOf 'syndromic renal or urinary tract malformation' 'BNAR syndrome' SubClassOf 'bifid nose' 'BNAR syndrome' SubClassOf 'syndromic anorectal malformation' 'BNAR syndrome' SubClassOf 'syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome 'spondylometaphyseal dysplasia-cone-rod dystrophy syndrome' SubClassOf 'spondylometaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0012164 Meacham syndrome 'Meacham syndrome' SubClassOf 'has modifier' some 'rare' 'Meacham syndrome' SubClassOf 'syndromic uterovaginal malformation' 'Meacham syndrome' SubClassOf '46,XY disorder of sex development' 'Meacham syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation 'susceptibility to respiratory infections associated with CD8alpha chain mutation' SubClassOf 'non-SCID combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0000192 polyglucosan body myopathy 'polyglucosan body myopathy' SubClassOf 'genetic disorder' 'polyglucosan body myopathy' SubClassOf 'myopathy' http://purl.obolibrary.org/obo/MONDO_0000193 cortisone reductase deficiency 'cortisone reductase deficiency' SubClassOf 'anomaly of puberty or/and menstrual cycle of genetic origin' 'cortisone reductase deficiency' SubClassOf 'adrenogenital syndrome' 'cortisone reductase deficiency' SubClassOf 'inherited lipid metabolism disorder' http://purl.obolibrary.org/obo/MONDO_0012176 Emanuel syndrome 'Emanuel syndrome' SubClassOf 'syndromic diaphragmatic or thoracic malformation' 'Emanuel syndrome' SubClassOf 'syndromic diaphragmatic or abdominal wall malformation' 'Emanuel syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012177 posterior column ataxia-retinitis pigmentosa syndrome 'posterior column ataxia-retinitis pigmentosa syndrome' SubClassOf 'FLVCR1-related retinopathy with or without ataxia' http://purl.obolibrary.org/obo/MONDO_0012172 mitochondrial trifunctional protein deficiency 'mitochondrial trifunctional protein deficiency' SubClassOf 'inborn mitochondrial myopathy' 'mitochondrial trifunctional protein deficiency' SubClassOf 'inherited lipid metabolism disorder' http://purl.obolibrary.org/obo/MONDO_0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 'long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf '3-hydroxyacyl-CoA dehydrogenase deficiency' 'long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'genetic peripheral neuropathy' 'long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'familial hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0012188 neuronal ceroid lipofuscinosis 9 'neuronal ceroid lipofuscinosis 9' SubClassOf 'juvenile neuronal ceroid lipofuscinosis' http://purl.obolibrary.org/obo/MONDO_0012181 hereditary spastic paraplegia 27 'hereditary spastic paraplegia 27' SubClassOf 'autosomal recessive complex spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0012185 spondylometaphyseal dysplasia, A4 type 'spondylometaphyseal dysplasia, A4 type' SubClassOf 'spondylometaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0012184 Pierson syndrome 'Pierson syndrome' SubClassOf 'LAMB2-related infantile-onset nephrotic syndrome' 'Pierson syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0012198 PCWH syndrome 'PCWH syndrome' SubClassOf 'leukodystrophy' 'PCWH syndrome' SubClassOf 'autosomal dominant disease' 'PCWH syndrome' SubClassOf 'syndromic genetic hearing loss' 'PCWH syndrome' SubClassOf 'hypopigmentation of the skin' 'PCWH syndrome' SubClassOf 'eye degenerative disorder' 'PCWH syndrome' SubClassOf 'genetic skin disease' 'PCWH syndrome' SubClassOf 'intestinal motility disease' 'PCWH syndrome' SubClassOf 'genetic peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0012192 permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome 'permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome' SubClassOf 'developmental anomaly of metabolic origin' 'permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome' SubClassOf 'inborn errors of metabolism' 'permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome' SubClassOf 'genetic nervous system disorder' 'permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome' SubClassOf 'neonatal diabetes mellitus' 'permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome' SubClassOf 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0012193 autosomal dominant limb-girdle muscular dystrophy type 1G 'autosomal dominant limb-girdle muscular dystrophy type 1G' SubClassOf 'muscular dystrophy, limb-girdle, autosomal dominant' http://purl.obolibrary.org/obo/MONDO_0012190 nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome 'nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome' SubClassOf 'syndromic genetic hearing loss' 'nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome' SubClassOf 'epidermolysis bullosa simplex' 'nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome' SubClassOf 'disease of glomerular basement membrane' http://purl.obolibrary.org/obo/MONDO_0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 'hepatoencephalopathy due to combined oxidative phosphorylation defect type 1' SubClassOf 'has modifier' some 'rare' 'hepatoencephalopathy due to combined oxidative phosphorylation defect type 1' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0012195 arthrogryposis-severe scoliosis syndrome 'arthrogryposis-severe scoliosis syndrome' SubClassOf 'distal arthrogryposis' http://purl.obolibrary.org/obo/MONDO_0014804 sideroblastic anemia 3 'sideroblastic anemia 3' SubClassOf 'autosomal recessive sideroblastic anemia' 'sideroblastic anemia 3' SubClassOf 'mitochondrial substrate carrier disorder' http://purl.obolibrary.org/obo/MONDO_0014803 spasticity-ataxia-gait anomalies syndrome 'spasticity-ataxia-gait anomalies syndrome' SubClassOf 'inherited lipoic acid biosynthesis defect' 'spasticity-ataxia-gait anomalies syndrome' SubClassOf 'spastic ataxia' http://purl.obolibrary.org/obo/MONDO_0014810 pancytopenia due to IKZF1 mutations 'pancytopenia due to IKZF1 mutations' SubClassOf 'common variable immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0014822 15q14 microdeletion syndrome '15q14 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 15' http://purl.obolibrary.org/obo/MONDO_0014832 intellectual disability, autosomal recessive 53 'intellectual disability, autosomal recessive 53' SubClassOf 'inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' 'intellectual disability, autosomal recessive 53' SubClassOf 'congenital nervous system disorder' 'intellectual disability, autosomal recessive 53' SubClassOf 'syndromic intellectual disability' 'intellectual disability, autosomal recessive 53' SubClassOf 'syndromic dyslipidemia' 'intellectual disability, autosomal recessive 53' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0014831 progeroid and marfanoid aspect-lipodystrophy syndrome 'progeroid and marfanoid aspect-lipodystrophy syndrome' SubClassOf 'hereditary disorder of connective tissue' http://purl.obolibrary.org/obo/MONDO_0000200 Zimmermann-Laband syndrome 'Zimmermann-Laband syndrome' SubClassOf 'genetic disorder' 'Zimmermann-Laband syndrome' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0014846 autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to TUD deficiency 'autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to TUD deficiency' SubClassOf 'autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0700089 paroxysmal nonkinesigenic dyskinesia 1 'paroxysmal nonkinesigenic dyskinesia 1' SubClassOf 'paroxysmal nonkinesigenic dyskinesia' http://purl.obolibrary.org/obo/MONDO_0700088 paroxysmal nonkinesigenic dyskinesia 'paroxysmal nonkinesigenic dyskinesia' SubClassOf 'paroxysmal dyskinesia' http://purl.obolibrary.org/obo/MONDO_0000212 hypercalcemia, infantile 'hypercalcemia, infantile' SubClassOf 'inborn errors of metabolism' 'hypercalcemia, infantile' SubClassOf 'nephropathy secondary to a storage or other metabolic disease' 'hypercalcemia, infantile' SubClassOf 'autosomal recessive disease' 'hypercalcemia, infantile' SubClassOf 'hypercalcemia disease' 'hypercalcemia, infantile' SubClassOf 'endocrine system disease' http://purl.obolibrary.org/obo/MONDO_0012208 congenital reticular ichthyosiform erythroderma 'congenital reticular ichthyosiform erythroderma' SubClassOf 'inherited non-syndromic ichthyosis' 'congenital reticular ichthyosiform erythroderma' SubClassOf 'has modifier' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0012209 branchiogenic deafness syndrome 'branchiogenic deafness syndrome' SubClassOf 'syndromic genetic hearing loss' 'branchiogenic deafness syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0012206 Czech dysplasia, metatarsal type 'Czech dysplasia, metatarsal type' SubClassOf 'spondyloepiphyseal dysplasia' 'Czech dysplasia, metatarsal type' SubClassOf 'type 2 collagenopathy' 'Czech dysplasia, metatarsal type' SubClassOf 'hereditary disorder of connective tissue' http://purl.obolibrary.org/obo/MONDO_0012204 familial pseudohyperkalemia 'familial pseudohyperkalemia' SubClassOf 'hereditary stomatocytosis' 'familial pseudohyperkalemia' SubClassOf 'familial hemolytic anemia' http://purl.obolibrary.org/obo/MONDO_0012205 autosomal dominant striatal neurodegeneration type 1 'autosomal dominant striatal neurodegeneration type 1' SubClassOf 'striatal degeneration, autosomal dominant' 'autosomal dominant striatal neurodegeneration type 1' SubClassOf 'parkinsonian disorder' http://purl.obolibrary.org/obo/MONDO_0012203 familial hyperthyroidism due to mutations in TSH receptor 'familial hyperthyroidism due to mutations in TSH receptor' SubClassOf 'Hyperthyroidism' 'familial hyperthyroidism due to mutations in TSH receptor' SubClassOf 'genetic hypertension' http://purl.obolibrary.org/obo/MONDO_0012211 MPDU1-CDG 'MPDU1-CDG' SubClassOf 'disorder of multiple glycosylation' 'MPDU1-CDG' SubClassOf 'neurometabolic disease' 'MPDU1-CDG' SubClassOf 'congenital nervous system disorder' 'MPDU1-CDG' SubClassOf 'congenital disorder of glycosylation type I' 'MPDU1-CDG' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0014873 nevus comedonicus syndrome 'nevus comedonicus syndrome' SubClassOf 'inherited skin tumor' 'nevus comedonicus syndrome' SubClassOf 'melanocytic nevus' http://purl.obolibrary.org/obo/MONDO_0012215 myofibrillar myopathy 3 'myofibrillar myopathy 3' SubClassOf 'qualitative or quantitative defects of myotilin' 'myofibrillar myopathy 3' SubClassOf 'muscular dystrophy, limb-girdle, autosomal dominant' 'myofibrillar myopathy 3' SubClassOf 'myofibrillar myopathy' 'myofibrillar myopathy 3' SubClassOf 'autosomal dominant distal myopathy' http://purl.obolibrary.org/obo/MONDO_0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome 'foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome' SubClassOf 'foveal hypoplasia' 'foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome' SubClassOf 'hereditary optic neuropathy' 'foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome' SubClassOf 'inherited vitreous-retinal disease' http://purl.obolibrary.org/obo/MONDO_0012213 hereditary spastic paraplegia 26 'hereditary spastic paraplegia 26' SubClassOf 'autosomal recessive complex spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0012222 alpha-N-acetylgalactosaminidase deficiency type 2 'alpha-N-acetylgalactosaminidase deficiency type 2' SubClassOf 'alpha-N-acetylgalactosaminidase deficiency' http://purl.obolibrary.org/obo/MONDO_0012220 Griscelli syndrome type 3 'Griscelli syndrome type 3' SubClassOf 'Griscelli syndrome' http://purl.obolibrary.org/obo/MONDO_0012221 alpha-N-acetylgalactosaminidase deficiency type 1 'alpha-N-acetylgalactosaminidase deficiency type 1' SubClassOf 'alpha-N-acetylgalactosaminidase deficiency' http://purl.obolibrary.org/obo/MONDO_0700043 syndrome caused by partial chromosomal duplication of the short arm of chromosome 9 'syndrome caused by partial chromosomal duplication of the short arm of chromosome 9' SubClassOf 'partial trisomy/tetrasomy of chromosome 9' http://purl.obolibrary.org/obo/MONDO_0012231 Charcot-Marie-Tooth disease type 2A2 'Charcot-Marie-Tooth disease type 2A2' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://purl.obolibrary.org/obo/MONDO_0014899 adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency 'adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency' SubClassOf 'multiple mitochondrial DNA deletion syndrome' 'adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency' SubClassOf 'progressive external ophthalmoplegia with mitochondrial DNA deletions' http://purl.obolibrary.org/obo/MONDO_0012235 autosomal recessive spinocerebellar ataxia 7 'autosomal recessive spinocerebellar ataxia 7' SubClassOf 'autosomal recessive cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0024237 inherited neurodegenerative disorder 'inherited neurodegenerative disorder' EquivalentTo 'neurodegenerative disease' and ('has modifier' some 'inherited') 'inherited neurodegenerative disorder' SubClassOf 'genetic nervous system disorder' 'inherited neurodegenerative disorder' SubClassOf 'neurodegenerative disease' http://purl.obolibrary.org/obo/MONDO_0012248 autosomal recessive limb-girdle muscular dystrophy type 2K 'autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf 'neurometabolic disease' 'autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf 'myopathy caused by variation in POMT1' 'autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf 'muscular dystrophy-dystroglycanopathy, type C' 'autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' 'autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf 'qualitative or quantitative defects of protein O-mannosyltransferase 1' 'autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf 'disorder of O-mannosylglycan synthesis' http://purl.obolibrary.org/obo/MONDO_0012246 spinocerebellar ataxia type 26 'spinocerebellar ataxia type 26' SubClassOf 'autosomal dominant cerebellar ataxia type III' http://purl.obolibrary.org/obo/MONDO_0012247 spinocerebellar ataxia type 27 'spinocerebellar ataxia type 27' SubClassOf 'autosomal dominant cerebellar ataxia type I' http://purl.obolibrary.org/obo/MONDO_0012256 hereditary spastic paraplegia 28 'hereditary spastic paraplegia 28' SubClassOf 'autosomal recessive pure spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0012253 multiple epiphyseal dysplasia, with severe proximal femoral dysplasia 'multiple epiphyseal dysplasia, with severe proximal femoral dysplasia' SubClassOf 'multiple epiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0012254 multiple epiphyseal dysplasia, with miniepiphyses 'multiple epiphyseal dysplasia, with miniepiphyses' SubClassOf 'multiple epiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0012257 Cerebrorenodigital syndrome 'Cerebrorenodigital syndrome' SubClassOf 'syndromic renal or urinary tract malformation' 'Cerebrorenodigital syndrome' SubClassOf 'familial cystic renal disease' http://purl.obolibrary.org/obo/MONDO_0012258 epidermolysis bullosa simplex 2E, with migratory circinate erythema 'epidermolysis bullosa simplex 2E, with migratory circinate erythema' SubClassOf 'basal epidermolysis bullosa simplex' http://purl.obolibrary.org/obo/MONDO_0012251 MEDNIK syndrome 'MEDNIK syndrome' SubClassOf 'syndromic intellectual disability' 'MEDNIK syndrome' SubClassOf 'syndromic genetic hearing loss' 'MEDNIK syndrome' SubClassOf 'erythrokeratoderma' 'MEDNIK syndrome' SubClassOf 'developmental anomaly of metabolic origin' 'MEDNIK syndrome' SubClassOf 'disorder of copper metabolism' 'MEDNIK syndrome' SubClassOf 'autosomal ichthyosis syndrome' http://purl.obolibrary.org/obo/MONDO_0012250 Charcot-Marie-Tooth disease type 4H 'Charcot-Marie-Tooth disease type 4H' SubClassOf 'Charcot-Marie-Tooth disease type 4' http://purl.obolibrary.org/obo/MONDO_0014688 short-rib thoracic dysplasia 14 with polydactyly 'short-rib thoracic dysplasia 14 with polydactyly' SubClassOf 'Jeune syndrome' 'short-rib thoracic dysplasia 14 with polydactyly' SubClassOf 'Joubert syndrome with Jeune asphyxiating thoracic dystrophy' http://purl.obolibrary.org/obo/MONDO_0012020 chromosome 22q11.2 microduplication syndrome 'chromosome 22q11.2 microduplication syndrome' SubClassOf 'partial duplication of the long arm of chromosome 22' http://purl.obolibrary.org/obo/MONDO_0012035 craniosynostosis-intracranial calcifications syndrome 'craniosynostosis-intracranial calcifications syndrome' SubClassOf 'syndromic craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0012033 bradyopsia 'bradyopsia' SubClassOf 'inherited vitreous-retinal disease' http://purl.obolibrary.org/obo/MONDO_0012034 autosomal dominant limb-girdle muscular dystrophy type 1F 'autosomal dominant limb-girdle muscular dystrophy type 1F' SubClassOf 'muscular dystrophy, limb-girdle, autosomal dominant' http://purl.obolibrary.org/obo/MONDO_0012032 Braddock syndrome 'Braddock syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Braddock syndrome' SubClassOf 'pulmonary hypertension' 'Braddock syndrome' SubClassOf 'genetic hypertension' http://purl.obolibrary.org/obo/MONDO_0012043 Reis-Bucklers corneal dystrophy 'Reis-Bucklers corneal dystrophy' SubClassOf 'epithelial-stromal TGFBI dystrophy' 'Reis-Bucklers corneal dystrophy' SubClassOf 'superficial corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0012041 MUTYH-related attenuated familial adenomatous polyposis 'MUTYH-related attenuated familial adenomatous polyposis' SubClassOf 'classic familial adenomatous polyposis' 'MUTYH-related attenuated familial adenomatous polyposis' SubClassOf 'attenuated familial adenomatous polyposis' 'MUTYH-related attenuated familial adenomatous polyposis' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0012055 Larsen-like osseous dysplasia-short stature syndrome 'Larsen-like osseous dysplasia-short stature syndrome' SubClassOf 'primary bone dysplasia' http://purl.obolibrary.org/obo/MONDO_0012052 ALG1-CDG 'ALG1-CDG' SubClassOf 'neurometabolic disease' 'ALG1-CDG' SubClassOf 'congenital disorder of glycosylation type I' 'ALG1-CDG' SubClassOf 'congenital nervous system disorder' 'ALG1-CDG' SubClassOf 'disorder of protein N-glycosylation' http://purl.obolibrary.org/obo/MONDO_0000087 polymicrogyria 'polymicrogyria' SubClassOf 'has modifier' some 'rare' 'polymicrogyria' SubClassOf 'syndromic intellectual disability' 'polymicrogyria' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0012061 familial sick sinus syndrome 'familial sick sinus syndrome' SubClassOf 'sick sinus syndrome' 'familial sick sinus syndrome' EquivalentTo 'sick sinus syndrome' and ('has modifier' some 'inherited') 'familial sick sinus syndrome' SubClassOf 'genetic cardiac rhythm disease' http://purl.obolibrary.org/obo/MONDO_0012064 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome 'choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome' SubClassOf 'congenital nervous system disorder' 'choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome' SubClassOf 'nose and cavum anomaly' 'choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome' SubClassOf 'syndromic genetic hearing loss' 'choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome' SubClassOf 'genetic otorhinolaryngological malformation' http://purl.obolibrary.org/obo/MONDO_0012063 ulnar/fibula ray defect-brachydactyly syndrome 'ulnar/fibula ray defect-brachydactyly syndrome' SubClassOf 'congenital limb malformation' http://purl.obolibrary.org/obo/MONDO_0012072 familial partial lipodystrophy, Kobberling type 'familial partial lipodystrophy, Kobberling type' SubClassOf 'familial partial lipodystrophy' http://purl.obolibrary.org/obo/MONDO_0012075 oligodontia-cancer predisposition syndrome 'oligodontia-cancer predisposition syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012074 mandibuloacral dysplasia with type B lipodystrophy 'mandibuloacral dysplasia with type B lipodystrophy' SubClassOf 'laminopathy' 'mandibuloacral dysplasia with type B lipodystrophy' SubClassOf 'mandibuloacral dysplasia' http://purl.obolibrary.org/obo/MONDO_0012089 ichthyosis prematurity syndrome 'ichthyosis prematurity syndrome' SubClassOf 'autosomal ichthyosis syndrome' 'ichthyosis prematurity syndrome' SubClassOf 'pneumonitis' http://purl.obolibrary.org/obo/MONDO_0012081 15q11q13 microduplication syndrome '15q11q13 microduplication syndrome' SubClassOf 'epilepsy' '15q11q13 microduplication syndrome' SubClassOf 'genetic nervous system disorder' '15q11q13 microduplication syndrome' SubClassOf 'syndromic disease' '15q11q13 microduplication syndrome' SubClassOf 'partial duplication of the long arm of chromosome 15' '15q11q13 microduplication syndrome' SubClassOf 'predisposes towards' some 'autism' http://purl.obolibrary.org/obo/MONDO_0012084 aromatic L-amino acid decarboxylase deficiency 'aromatic L-amino acid decarboxylase deficiency' SubClassOf 'disorder of catecholamine synthesis' 'aromatic L-amino acid decarboxylase deficiency' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0012099 AICA-ribosiduria 'AICA-ribosiduria' SubClassOf 'congenital nervous system disorder' 'AICA-ribosiduria' SubClassOf 'genetic macular dystrophy' 'AICA-ribosiduria' SubClassOf 'inborn disorder of purine metabolism' 'AICA-ribosiduria' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'AICA-ribosiduria' SubClassOf 'syndromic intellectual disability' 'AICA-ribosiduria' SubClassOf 'developmental anomaly of metabolic origin' 'AICA-ribosiduria' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0012092 hereditary sensory and autonomic neuropathy type 5 'hereditary sensory and autonomic neuropathy type 5' SubClassOf 'autosomal recessive hereditary sensory and autonomic neuropathy' http://purl.obolibrary.org/obo/MONDO_0012098 spinocerebellar ataxia type 20 'spinocerebellar ataxia type 20' SubClassOf 'autosomal dominant cerebellar ataxia type I' http://purl.obolibrary.org/obo/MONDO_0012095 intellectual disability-brachydactyly-Pierre Robin syndrome 'intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf 'genetic syndromic Pierre Robin syndrome' 'intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf 'congenital limb malformation' 'intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf 'dysostosis of genetic origin' 'intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf 'genetic nervous system disorder' 'intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf 'syndromic intellectual disability' 'intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0012096 Charcot-Marie-Tooth disease axonal type 2L 'Charcot-Marie-Tooth disease axonal type 2L' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://purl.obolibrary.org/obo/MONDO_0014708 ring chromosome 14 'ring chromosome 14' SubClassOf 'genetic nervous system disorder' 'ring chromosome 14' SubClassOf 'chromosome 14 disorder' 'ring chromosome 14' SubClassOf 'epilepsy' 'ring chromosome 14' SubClassOf 'ring chromosome disorder' http://purl.obolibrary.org/obo/MONDO_0014717 early-onset Lafora body disease 'early-onset Lafora body disease' SubClassOf 'progressive myoclonus epilepsy' http://purl.obolibrary.org/obo/MONDO_0014720 autosomal dominant optic atrophy plus syndrome 'autosomal dominant optic atrophy plus syndrome' SubClassOf 'autosomal dominant hereditary axonal motor and sensory neuropathy' 'autosomal dominant optic atrophy plus syndrome' SubClassOf 'autosomal dominant optic atrophy' 'autosomal dominant optic atrophy plus syndrome' SubClassOf 'multiple mitochondrial DNA deletion syndrome' http://purl.obolibrary.org/obo/MONDO_0014722 Roifman syndrome 'Roifman syndrome' SubClassOf 'immunodeficiency predominantly affecting antibody production' 'Roifman syndrome' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0014733 Charcot-Marie-Tooth disease type 4K 'Charcot-Marie-Tooth disease type 4K' SubClassOf 'Charcot-Marie-Tooth disease type 4' 'Charcot-Marie-Tooth disease type 4K' SubClassOf 'mitochondrial oxidative phosphorylation disorder' http://purl.obolibrary.org/obo/MONDO_0000107 auriculocondylar syndrome 'auriculocondylar syndrome' SubClassOf 'oculo-auriculo-vertebral spectrum' 'auriculocondylar syndrome' SubClassOf 'ear malformation' http://purl.obolibrary.org/obo/MONDO_0014753 autosomal recessive optic atrophy 'autosomal recessive optic atrophy' SubClassOf 'hereditary optic neuropathy' 'autosomal recessive optic atrophy' SubClassOf 'eye degenerative disorder' 'autosomal recessive optic atrophy' SubClassOf 'autosomal recessive disease' 'autosomal recessive optic atrophy' SubClassOf 'hereditary optic atrophy' http://purl.obolibrary.org/obo/MONDO_0000127 geleophysic dysplasia 'geleophysic dysplasia' SubClassOf 'acromelic dysplasia' 'geleophysic dysplasia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012108 spondyloepimetaphyseal dysplasia, matrilin-3 type 'spondyloepimetaphyseal dysplasia, matrilin-3 type' SubClassOf 'genetic disorder' 'spondyloepimetaphyseal dysplasia, matrilin-3 type' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0012103 spinocerebellar ataxia type 25 'spinocerebellar ataxia type 25' SubClassOf 'autosomal dominant cerebellar ataxia type I' http://purl.obolibrary.org/obo/MONDO_0000128 giant axonal neuropathy 'giant axonal neuropathy' SubClassOf 'axonal neuropathy' 'giant axonal neuropathy' SubClassOf 'genetic peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0000133 immunodeficiency-centromeric instability-facial anomalies syndrome 'immunodeficiency-centromeric instability-facial anomalies syndrome' SubClassOf 'telomere syndrome' 'immunodeficiency-centromeric instability-facial anomalies syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0000136 keratosis follicularis spinulosa decalvans 'keratosis follicularis spinulosa decalvans' SubClassOf 'keratosis pilaris atrophicans' 'keratosis follicularis spinulosa decalvans' SubClassOf 'secondary ectropion' 'keratosis follicularis spinulosa decalvans' SubClassOf 'folliculitis' 'keratosis follicularis spinulosa decalvans' SubClassOf 'keratosis' http://purl.obolibrary.org/obo/MONDO_0012118 COG7-CDG 'COG7-CDG' SubClassOf 'developmental anomaly of metabolic origin' 'COG7-CDG' SubClassOf 'congenital nervous system disorder' 'COG7-CDG' SubClassOf 'neurometabolic disease' 'COG7-CDG' SubClassOf 'genetic skin disease' 'COG7-CDG' SubClassOf 'heart disease' 'COG7-CDG' SubClassOf 'congenital disorder of glycosylation type II' 'COG7-CDG' SubClassOf 'defect in conserved oligomeric Golgi complex' http://purl.obolibrary.org/obo/MONDO_0012110 growth delay due to insulin-like growth factor type 1 deficiency 'growth delay due to insulin-like growth factor type 1 deficiency' SubClassOf 'growth hormone insensitivity syndrome' 'growth delay due to insulin-like growth factor type 1 deficiency' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014773 cardiac anomalies - developmental delay - facial dysmorphism syndrome 'cardiac anomalies - developmental delay - facial dysmorphism syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'cardiac anomalies - developmental delay - facial dysmorphism syndrome' SubClassOf 'syndromic intellectual disability' 'cardiac anomalies - developmental delay - facial dysmorphism syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'cardiac anomalies - developmental delay - facial dysmorphism syndrome' SubClassOf 'heart disease' 'cardiac anomalies - developmental delay - facial dysmorphism syndrome' SubClassOf 'genetic cardiac anomaly' 'cardiac anomalies - developmental delay - facial dysmorphism syndrome' SubClassOf 'genetic nervous system disorder' 'cardiac anomalies - developmental delay - facial dysmorphism syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0012116 spinocerebellar ataxia type 8 'spinocerebellar ataxia type 8' SubClassOf 'autosomal dominant cerebellar ataxia type I' http://purl.obolibrary.org/obo/MONDO_0012117 ALG9-CDG 'ALG9-CDG' SubClassOf 'congenital nervous system disorder' 'ALG9-CDG' SubClassOf 'congenital disorder of glycosylation type I' 'ALG9-CDG' SubClassOf 'disorder of protein N-glycosylation' 'ALG9-CDG' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0000141 mosaic variegated aneuploidy syndrome 'mosaic variegated aneuploidy syndrome' SubClassOf 'chromosomal disorder' 'mosaic variegated aneuploidy syndrome' SubClassOf 'has modifier' some 'mosaic' 'mosaic variegated aneuploidy syndrome' SubClassOf 'neoplastic syndrome' 'mosaic variegated aneuploidy syndrome' SubClassOf 'hereditary neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0012123 congenital disorder of glycosylation type 1E 'congenital disorder of glycosylation type 1E' SubClassOf 'congenital disorder of glycosylation type I' 'congenital disorder of glycosylation type 1E' SubClassOf 'disorder of multiple glycosylation' 'congenital disorder of glycosylation type 1E' SubClassOf 'congenital nervous system disorder' 'congenital disorder of glycosylation type 1E' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0012124 sudden infant death-dysgenesis of the testes syndrome 'sudden infant death-dysgenesis of the testes syndrome' SubClassOf 'genetic disorder' 'sudden infant death-dysgenesis of the testes syndrome' SubClassOf 'has modifier' some 'rare' 'sudden infant death-dysgenesis of the testes syndrome' SubClassOf 'respiratory system disease' 'sudden infant death-dysgenesis of the testes syndrome' SubClassOf '46,XY disorder of sex development' http://purl.obolibrary.org/obo/MONDO_0012127 autosomal recessive limb-girdle muscular dystrophy type 2J 'autosomal recessive limb-girdle muscular dystrophy type 2J' SubClassOf 'qualitative or quantitative defects of titin' 'autosomal recessive limb-girdle muscular dystrophy type 2J' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0012125 hypomyelinating leukodystrophy 2 'hypomyelinating leukodystrophy 2' SubClassOf 'Pelizaeus-Merzbacher-like disease' http://purl.obolibrary.org/obo/MONDO_0012126 familial avascular necrosis of femoral head 'familial avascular necrosis of femoral head' SubClassOf 'avascular necrosis of genetic origin' 'familial avascular necrosis of femoral head' SubClassOf 'primary avascular necrosis' http://purl.obolibrary.org/obo/MONDO_0012120 pyruvate dehydrogenase phosphatase deficiency 'pyruvate dehydrogenase phosphatase deficiency' SubClassOf 'pyruvate dehydrogenase deficiency' http://purl.obolibrary.org/obo/MONDO_0012136 carnitine palmitoyl transferase II deficiency, neonatal form 'carnitine palmitoyl transferase II deficiency, neonatal form' SubClassOf 'carnitine palmitoyltransferase II deficiency' http://purl.obolibrary.org/obo/MONDO_0012137 Carney complex - trismus - pseudocamptodactyly syndrome 'Carney complex - trismus - pseudocamptodactyly syndrome' SubClassOf 'Carney complex' 'Carney complex - trismus - pseudocamptodactyly syndrome' SubClassOf 'heart-hand syndrome' http://purl.obolibrary.org/obo/MONDO_0012130 myofibrillar myopathy 2 'myofibrillar myopathy 2' SubClassOf 'autosomal dominant distal myopathy' 'myofibrillar myopathy 2' SubClassOf 'alpha-crystallinopathy' http://purl.obolibrary.org/obo/MONDO_0014566 Charcot-Marie-Tooth disease axonal type 2U 'Charcot-Marie-Tooth disease axonal type 2U' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://purl.obolibrary.org/obo/MONDO_0014576 lipoyl transferase 1 deficiency 'lipoyl transferase 1 deficiency' SubClassOf 'inherited lipoic acid biosynthesis defect' http://purl.obolibrary.org/obo/MONDO_0014593 developmental and epileptic encephalopathy, 29 'developmental and epileptic encephalopathy, 29' SubClassOf 'neonatal-onset developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 29' SubClassOf 'undetermined early-onset epileptic encephalopathy' http://www.ebi.ac.uk/efo/EFO_0030079 paracentesis 'paracentesis' SubClassOf 'collecting specimen from organism' http://www.ebi.ac.uk/efo/EFO_0030078 droplet-based single-cell RNA library preparation 'droplet-based single-cell RNA library preparation' SubClassOf 'single cell library construction' http://purl.obolibrary.org/obo/MONDO_0014601 autosomal recessive spinocerebellar ataxia 20 'autosomal recessive spinocerebellar ataxia 20' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'autosomal recessive spinocerebellar ataxia 20' SubClassOf 'syndromic intellectual disability' 'autosomal recessive spinocerebellar ataxia 20' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'autosomal recessive spinocerebellar ataxia 20' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'autosomal recessive spinocerebellar ataxia 20' SubClassOf 'congenital nervous system disorder' 'autosomal recessive spinocerebellar ataxia 20' SubClassOf 'central nervous system malformation' 'autosomal recessive spinocerebellar ataxia 20' SubClassOf 'autosomal recessive cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0014641 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 'frontotemporal dementia and/or amyotrophic lateral sclerosis 4' SubClassOf 'frontotemporal dementia and/or amyotrophic lateral sclerosis' 'frontotemporal dementia and/or amyotrophic lateral sclerosis 4' SubClassOf 'familial amyotrophic lateral sclerosis' 'frontotemporal dementia and/or amyotrophic lateral sclerosis 4' SubClassOf 'frontotemporal dementia with motor neuron disease' http://purl.obolibrary.org/obo/MONDO_0014658 severe achondroplasia-developmental delay-acanthosis nigricans syndrome 'severe achondroplasia-developmental delay-acanthosis nigricans syndrome' SubClassOf 'FGFR3-related chondrodysplasia' 'severe achondroplasia-developmental delay-acanthosis nigricans syndrome' SubClassOf 'genetic skin disease' 'severe achondroplasia-developmental delay-acanthosis nigricans syndrome' SubClassOf 'epidermal disease' 'severe achondroplasia-developmental delay-acanthosis nigricans syndrome' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0012008 Lelis syndrome 'Lelis syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0012019 spondyloepiphyseal dysplasia, Kimberley type 'spondyloepiphyseal dysplasia, Kimberley type' SubClassOf 'genetic disorder' 'spondyloepiphyseal dysplasia, Kimberley type' SubClassOf 'spondyloepiphyseal dysplasia' 'spondyloepiphyseal dysplasia, Kimberley type' SubClassOf 'aggrecan-related bone disorder' http://purl.obolibrary.org/obo/MONDO_0012013 Weill-Marchesani syndrome 2, dominant 'Weill-Marchesani syndrome 2, dominant' SubClassOf 'Weill-Marchesani syndrome' http://purl.obolibrary.org/obo/MONDO_0012014 Charcot-Marie-Tooth disease recessive intermediate A 'Charcot-Marie-Tooth disease recessive intermediate A' SubClassOf 'autosomal recessive intermediate Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0012012 Charcot-Marie-Tooth disease dominant intermediate C 'Charcot-Marie-Tooth disease dominant intermediate C' SubClassOf 'autosomal dominant intermediate Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0012017 Parkes Weber syndrome 'Parkes Weber syndrome' SubClassOf 'angioosteohypertrophic syndrome' http://purl.obolibrary.org/obo/MONDO_0012016 capillary malformation-arteriovenous malformation syndrome 'capillary malformation-arteriovenous malformation syndrome' SubClassOf 'genetic vascular anomaly' 'capillary malformation-arteriovenous malformation syndrome' SubClassOf 'capillary malformation' http://purl.obolibrary.org/obo/MONDO_0014449 congenital analbuminemia 'congenital analbuminemia' SubClassOf 'genetic disorder' 'congenital analbuminemia' SubClassOf 'congenital hematological disorder' http://purl.obolibrary.org/obo/MONDO_0002474 primary hyperoxaluria 'primary hyperoxaluria' SubClassOf 'genetic disorder' 'primary hyperoxaluria' SubClassOf 'nephropathy secondary to a storage or other metabolic disease' http://purl.obolibrary.org/obo/MONDO_0014452 familial dysfibrinogenemia 'familial dysfibrinogenemia' SubClassOf 'congenital fibrinogen deficiency' http://purl.obolibrary.org/obo/MONDO_0014476 episodic ataxia type 8 'episodic ataxia type 8' SubClassOf 'hereditary episodic ataxia' http://purl.obolibrary.org/obo/MONDO_0014474 autosomal recessive limb-girdle muscular dystrophy type 2U 'autosomal recessive limb-girdle muscular dystrophy type 2U' SubClassOf 'neurometabolic disease' 'autosomal recessive limb-girdle muscular dystrophy type 2U' SubClassOf 'qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' 'autosomal recessive limb-girdle muscular dystrophy type 2U' SubClassOf 'muscular dystrophy-dystroglycanopathy, type C' 'autosomal recessive limb-girdle muscular dystrophy type 2U' SubClassOf 'disorder of O-mannosylglycan synthesis' 'autosomal recessive limb-girdle muscular dystrophy type 2U' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0014471 mitochondrial proton-transporting ATP synthase complex deficiency 'mitochondrial proton-transporting ATP synthase complex deficiency' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0014487 congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome 'congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome' SubClassOf 'inherited sideroblastic anemia' 'congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome' SubClassOf 'immunodeficiency predominantly affecting antibody production' http://purl.obolibrary.org/obo/MONDO_0014483 retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies 'retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0002525 inherited lipid metabolism disorder 'inherited lipid metabolism disorder' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0002520 hepatic porphyria 'hepatic porphyria' SubClassOf 'porphyria' 'hepatic porphyria' SubClassOf 'liver disease' http://purl.obolibrary.org/obo/MONDO_0014507 Catel-Manzke syndrome 'Catel-Manzke syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'Catel-Manzke syndrome' SubClassOf 'congenital nervous system disorder' 'Catel-Manzke syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Catel-Manzke syndrome' SubClassOf 'genetic nervous system disorder' 'Catel-Manzke syndrome' SubClassOf 'syndromic intellectual disability' 'Catel-Manzke syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Catel-Manzke syndrome' SubClassOf 'orofacial clefting syndrome' http://purl.obolibrary.org/obo/MONDO_0014502 mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency 'mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency' SubClassOf 'inherited susceptibility to mycobacterial diseases' http://purl.obolibrary.org/obo/MONDO_0014530 autosomal recessive spinocerebellar ataxia 18 'autosomal recessive spinocerebellar ataxia 18' SubClassOf 'autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome' http://purl.obolibrary.org/obo/MONDO_0002561 lysosomal storage disease 'lysosomal storage disease' SubClassOf 'inborn errors of metabolism' 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 genetic obesity' 'motor developmental delay due to 14q32.2 paternally expressed gene defect' SubClassOf 'genetic nervous system disorder' 'motor developmental delay due to 14q32.2 paternally expressed gene defect' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014546 myopathy due to calsequestrin and SERCA1 protein overload 'myopathy due to calsequestrin and SERCA1 protein overload' SubClassOf 'skeletal muscle disorder' 'myopathy due to calsequestrin and SERCA1 protein overload' SubClassOf 'qualitative or quantitative defects of protein SERCA1' http://purl.obolibrary.org/obo/MONDO_0014555 peeling skin syndrome type A 'peeling skin syndrome type A' SubClassOf 'generalized peeling skin syndrome' http://purl.obolibrary.org/obo/MONDO_0009804 osteogenesis imperfecta type 3 'osteogenesis imperfecta type 3' SubClassOf 'osteogenesis imperfecta' http://purl.obolibrary.org/obo/MONDO_0009803 congenital osteogenesis imperfecta-microcephaly-cataracts syndrome 'congenital osteogenesis imperfecta-microcephaly-cataracts syndrome' SubClassOf 'has modifier' some 'congenital' 'congenital osteogenesis imperfecta-microcephaly-cataracts syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009801 familial osteodysplasia, Anderson type 'familial osteodysplasia, Anderson type' SubClassOf 'dysostosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0009818 autosomal recessive osteopetrosis 3 'autosomal recessive osteopetrosis 3' SubClassOf 'autosomal recessive osteopetrosis' 'autosomal recessive osteopetrosis 3' SubClassOf 'primary renal tubular acidosis' http://purl.obolibrary.org/obo/MONDO_0010808 fatal familial insomnia 'fatal familial insomnia' SubClassOf 'insomnia' 'fatal familial insomnia' SubClassOf 'inherited prion disease' 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 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009810 autosomal recessive distal osteolysis syndrome 'autosomal recessive distal osteolysis syndrome' SubClassOf 'primary osteolysis' http://purl.obolibrary.org/obo/MONDO_0010801 spondylocamptodactyly syndrome 'spondylocamptodactyly syndrome' SubClassOf 'spondylodysplastic dysplasia' http://purl.obolibrary.org/obo/MONDO_0010803 Eiken syndrome 'Eiken syndrome' SubClassOf 'genetic disorder' 'Eiken syndrome' SubClassOf 'multiple epiphyseal dysplasia and pseudoachondroplasia' http://purl.obolibrary.org/obo/MONDO_0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome 'pancreatic hypoplasia-diabetes-congenital heart disease syndrome' SubClassOf 'inborn errors of metabolism' 'pancreatic hypoplasia-diabetes-congenital heart disease syndrome' SubClassOf 'has modifier' some 'congenital' 'pancreatic hypoplasia-diabetes-congenital heart disease syndrome' SubClassOf 'has modifier' some 'rare' 'pancreatic hypoplasia-diabetes-congenital heart disease syndrome' SubClassOf 'diabetes mellitus' http://purl.obolibrary.org/obo/MONDO_0010805 bladder exstrophy 'bladder exstrophy' SubClassOf 'exstrophy-epispadias complex' http://purl.obolibrary.org/obo/MONDO_0009825 5-oxoprolinase deficiency '5-oxoprolinase deficiency' SubClassOf 'inborn disorder of the gamma-glutamyl cycle' http://purl.obolibrary.org/obo/MONDO_0009824 primary hyperoxaluria type 2 'primary hyperoxaluria type 2' SubClassOf 'primary hyperoxaluria' http://purl.obolibrary.org/obo/MONDO_0009823 primary hyperoxaluria type 1 'primary hyperoxaluria type 1' SubClassOf 'alanine glyoxylate aminotransferase deficiency' 'primary hyperoxaluria type 1' SubClassOf 'primary hyperoxaluria' http://purl.obolibrary.org/obo/MONDO_0009821 lethal osteosclerotic bone dysplasia 'lethal osteosclerotic bone dysplasia' SubClassOf 'genetic disorder' 'lethal osteosclerotic bone dysplasia' SubClassOf 'neonatal osteosclerotic dysplasia' http://purl.obolibrary.org/obo/MONDO_0009820 osteoporosis-pseudoglioma syndrome 'osteoporosis-pseudoglioma syndrome' SubClassOf 'congenital vitreoretinal dysplasia' 'osteoporosis-pseudoglioma syndrome' SubClassOf 'autosomal recessive disease' 'osteoporosis-pseudoglioma syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010814 chondrodysplasia-pseudohermaphroditism syndrome 'chondrodysplasia-pseudohermaphroditism syndrome' SubClassOf '46,XY disorder of sex development' 'chondrodysplasia-pseudohermaphroditism syndrome' SubClassOf 'has modifier' some 'rare' 'chondrodysplasia-pseudohermaphroditism syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010813 pancreatic beta cell agenesis with neonatal diabetes mellitus 'pancreatic beta cell agenesis with neonatal diabetes mellitus' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0010816 Qazi Markouizos syndrome 'Qazi Markouizos syndrome' SubClassOf 'has modifier' some 'rare' 'Qazi Markouizos syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010829 CARASIL syndrome 'CARASIL syndrome' SubClassOf 'HTRA1-related cerebral small vessel disease' 'CARASIL syndrome' SubClassOf 'cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2' http://purl.obolibrary.org/obo/MONDO_0009839 progressive supranuclear palsy-parkinsonism syndrome 'progressive supranuclear palsy-parkinsonism syndrome' SubClassOf 'atypical progressive supranuclear palsy syndrome' 'progressive supranuclear palsy-parkinsonism syndrome' SubClassOf 'inherited neurodegenerative disorder' http://purl.obolibrary.org/obo/MONDO_0009838 Parana hard-skin syndrome 'Parana hard-skin syndrome' SubClassOf 'syndromic disease' 'Parana hard-skin syndrome' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0009833 Shwachman-Diamond syndrome 'Shwachman-Diamond syndrome' SubClassOf 'has modifier' some 'rare' 'Shwachman-Diamond syndrome' SubClassOf 'autosomal recessive disease' 'Shwachman-Diamond syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009832 pancreatic agenesis 'pancreatic agenesis' SubClassOf 'genetic disorder' 'pancreatic agenesis' SubClassOf 'non-syndromic visceral malformation' http://purl.obolibrary.org/obo/MONDO_0009830 parkinsonian-pyramidal syndrome 'parkinsonian-pyramidal syndrome' SubClassOf 'Parkinson disease' 'parkinsonian-pyramidal syndrome' SubClassOf 'predisposes towards' some 'young-onset Parkinson disease' http://purl.obolibrary.org/obo/MONDO_0010823 rhizomelic chondrodysplasia punctata type 3 'rhizomelic chondrodysplasia punctata type 3' SubClassOf 'rhizomelic chondrodysplasia punctata' 'rhizomelic chondrodysplasia punctata type 3' SubClassOf 'alkylglycerone-phosphate synthase deficiency' http://purl.obolibrary.org/obo/MONDO_0010825 atrioventricular defect-blepharophimosis-radial and anal defect syndrome 'atrioventricular defect-blepharophimosis-radial and anal defect syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'atrioventricular defect-blepharophimosis-radial and anal defect syndrome' SubClassOf 'heart disease' 'atrioventricular defect-blepharophimosis-radial and anal defect syndrome' SubClassOf 'eyelids malposition disorder' http://purl.obolibrary.org/obo/MONDO_0010824 disorder of sex development-intellectual disability syndrome 'disorder of sex development-intellectual disability syndrome' SubClassOf 'has modifier' some 'rare' 'disorder of sex development-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'disorder of sex development-intellectual disability syndrome' SubClassOf '46,XY disorder of sex development' http://purl.obolibrary.org/obo/MONDO_0010826 childhood absence epilepsy 'childhood absence epilepsy' SubClassOf 'childhood electroclinical syndrome' 'childhood absence epilepsy' SubClassOf 'genetic nervous system disorder' 'childhood absence epilepsy' SubClassOf 'childhood-onset epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0010839 autosomal dominant congenital benign spinal muscular atrophy 'autosomal dominant congenital benign spinal muscular atrophy' SubClassOf 'autosomal dominant distal hereditary motor neuropathy' http://purl.obolibrary.org/obo/MONDO_0009849 hyperimmunoglobulinemia D with periodic fever 'hyperimmunoglobulinemia D with periodic fever' SubClassOf 'primary immunodeficiency due to a genetic defect in innate immunity' 'hyperimmunoglobulinemia D with periodic fever' SubClassOf 'mevalonate kinase deficiency' http://purl.obolibrary.org/obo/MONDO_0009846 pentosuria 'pentosuria' SubClassOf 'disorders of pentose/polyol metabolism' http://purl.obolibrary.org/obo/MONDO_0009845 pelviscapular dysplasia 'pelviscapular dysplasia' SubClassOf 'dysostosis of genetic origin' 'pelviscapular dysplasia' SubClassOf 'congenital limb malformation' http://purl.obolibrary.org/obo/MONDO_0009844 pellagra-like syndrome 'pellagra-like syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009843 hypomyelinating leukodystrophy 3 'hypomyelinating leukodystrophy 3' SubClassOf 'Pelizaeus-Merzbacher-like disease' http://purl.obolibrary.org/obo/MONDO_0010831 familial caudal dysgenesis 'familial caudal dysgenesis' SubClassOf 'genetic nervous system disorder' 'familial caudal dysgenesis' SubClassOf 'congenital nervous system disorder' 'familial caudal dysgenesis' SubClassOf 'caudal regression-sirenomelia spectrum' http://purl.obolibrary.org/obo/MONDO_0009841 PEHO syndrome 'PEHO syndrome' SubClassOf 'eye degenerative disorder' 'PEHO syndrome' SubClassOf 'syndromic lymphedema' 'PEHO syndrome' SubClassOf 'neurovascular disorder' 'PEHO syndrome' SubClassOf 'epilepsy syndrome' 'PEHO syndrome' SubClassOf 'syndromic hereditary optic neuropathy' 'PEHO syndrome' SubClassOf 'lymphatic malformation' 'PEHO syndrome' SubClassOf 'inherited neurodegenerative disorder' http://purl.obolibrary.org/obo/MONDO_0010835 pterygium colli-intellectual disability-digital anomalies syndrome 'pterygium colli-intellectual disability-digital anomalies syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '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_0010830 neuronal ceroid lipofuscinosis 8 'neuronal ceroid lipofuscinosis 8' SubClassOf 'late infantile neuronal ceroid lipofuscinosis' 'neuronal ceroid lipofuscinosis 8' SubClassOf 'juvenile neuronal ceroid lipofuscinosis' http://purl.obolibrary.org/obo/MONDO_0009859 PHAVER syndrome 'PHAVER syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009858 Pfeiffer-Palm-Teller syndrome 'Pfeiffer-Palm-Teller syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Pfeiffer-Palm-Teller syndrome' SubClassOf 'congenital nervous system disorder' 'Pfeiffer-Palm-Teller syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009857 persistent Mullerian duct syndrome 'persistent Mullerian duct syndrome' SubClassOf 'has modifier' some 'rare' 'persistent Mullerian duct syndrome' SubClassOf '46,XY disorder of sex development of endocrine origin' 'persistent Mullerian duct syndrome' SubClassOf 'male infertility' 'persistent Mullerian duct syndrome' SubClassOf 'pseudohermaphroditism' http://purl.obolibrary.org/obo/MONDO_0009856 Peters plus syndrome 'Peters plus syndrome' SubClassOf 'syndromic disease' 'Peters plus syndrome' SubClassOf 'disorder of fucoglycosan synthesis' 'Peters plus syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Peters plus syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Peters plus syndrome' SubClassOf 'developmental anomaly of metabolic origin' 'Peters plus syndrome' SubClassOf 'neurometabolic disease' 'Peters plus syndrome' SubClassOf 'eye disease' 'Peters plus syndrome' SubClassOf 'congenital nervous system disorder' 'Peters plus syndrome' SubClassOf 'heart disease' http://purl.obolibrary.org/obo/MONDO_0009853 Imerslund-Grasbeck syndrome 'Imerslund-Grasbeck syndrome' SubClassOf 'inborn disorder of cobalamin metabolism and transport' 'Imerslund-Grasbeck syndrome' SubClassOf 'intestinal disease due to vitamin absorption anomaly' 'Imerslund-Grasbeck syndrome' SubClassOf 'megaloblastic anemia' 'Imerslund-Grasbeck syndrome' SubClassOf 'nephropathy secondary to a storage or other metabolic disease' 'Imerslund-Grasbeck syndrome' SubClassOf 'inherited deficiency anemia' http://purl.obolibrary.org/obo/MONDO_0010842 multiple cutaneous and mucosal venous malformations 'multiple cutaneous and mucosal venous malformations' SubClassOf 'genetic vascular anomaly' 'multiple cutaneous and mucosal venous malformations' SubClassOf 'simple vascular malformation' 'multiple cutaneous and mucosal venous malformations' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0009852 hereditary intrinsic factor deficiency 'hereditary intrinsic factor deficiency' SubClassOf 'inborn disorder of cobalamin metabolism and transport' 'hereditary intrinsic factor deficiency' SubClassOf 'inborn vitamin B12 deficiency' 'hereditary intrinsic factor deficiency' SubClassOf 'inherited deficiency anemia' http://purl.obolibrary.org/obo/MONDO_0010847 spinocerebellar ataxia type 4 'spinocerebellar ataxia type 4' SubClassOf 'autosomal dominant cerebellar ataxia type I' http://purl.obolibrary.org/obo/MONDO_0010848 spinocerebellar ataxia type 5 'spinocerebellar ataxia type 5' SubClassOf 'autosomal dominant cerebellar ataxia type III' 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 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0007208 Boomerang dysplasia 'Boomerang dysplasia' SubClassOf 'genetic disorder' 'Boomerang dysplasia' SubClassOf 'osteochondrodysplasia' 'Boomerang dysplasia' SubClassOf 'filamin-related bone disorder' http://purl.obolibrary.org/obo/MONDO_0007209 Weismann-Netter syndrome 'Weismann-Netter syndrome' SubClassOf 'bent bone dysplasia' http://purl.obolibrary.org/obo/MONDO_0009869 isolated Pierre-Robin syndrome 'isolated Pierre-Robin syndrome' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0007207 Böök syndrome 'Böök syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0009868 glycogen storage disease IXb 'glycogen storage disease IXb' SubClassOf 'glycogen storage disease' 'glycogen storage disease IXb' DisjointWith 'glycogen storage disease due to liver phosphorylase kinase deficiency' 'glycogen storage disease IXb' SubClassOf 'muscular glycogenosis' 'glycogen storage disease IXb' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0007205 diaphyseal medullary stenosis-bone malignancy syndrome 'diaphyseal medullary stenosis-bone malignancy syndrome' SubClassOf 'bone neoplasm' 'diaphyseal medullary stenosis-bone malignancy syndrome' SubClassOf 'primary bone dysplasia' http://purl.obolibrary.org/obo/MONDO_0007202 blepharoptosis-myopia-ectopia lentis syndrome 'blepharoptosis-myopia-ectopia lentis syndrome' SubClassOf 'lens position anomaly' http://purl.obolibrary.org/obo/MONDO_0009865 glycogen storage disease due to phosphoglycerate mutase deficiency 'glycogen storage disease due to phosphoglycerate mutase deficiency' SubClassOf 'muscular glycogenosis' 'glycogen storage disease due to phosphoglycerate mutase deficiency' SubClassOf 'glycogen storage disease' http://purl.obolibrary.org/obo/MONDO_0010854 Toriello-Lacassie-Droste syndrome 'Toriello-Lacassie-Droste syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0007203 blue rubber bleb nevus 'blue rubber bleb nevus' SubClassOf 'syndromic disease' 'blue rubber bleb nevus' SubClassOf 'genetic vascular anomaly' 'blue rubber bleb nevus' SubClassOf 'genetic skin disease' 'blue rubber bleb nevus' SubClassOf 'hereditary neoplastic syndrome' 'blue rubber bleb nevus' SubClassOf 'simple vascular malformation' 'blue rubber bleb nevus' SubClassOf 'skin vascular disease' http://purl.obolibrary.org/obo/MONDO_0009864 phosphoenolpyruvate carboxykinase deficiency, mitochondrial 'phosphoenolpyruvate carboxykinase deficiency, mitochondrial' SubClassOf 'phosphoenolpyruvate carboxykinase deficiency' http://purl.obolibrary.org/obo/MONDO_0007200 blepharonasofacial malformation syndrome 'blepharonasofacial malformation syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'blepharonasofacial malformation syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'blepharonasofacial malformation syndrome' SubClassOf 'congenital nervous system disorder' 'blepharonasofacial malformation syndrome' SubClassOf 'nose and cavum anomaly' 'blepharonasofacial malformation syndrome' SubClassOf 'syndromic intellectual disability' 'blepharonasofacial malformation syndrome' SubClassOf 'genetic nervous system disorder' 'blepharonasofacial malformation syndrome' SubClassOf 'genetic otorhinolaryngological malformation' http://purl.obolibrary.org/obo/MONDO_0009863 BH4-deficient hyperphenylalaninemia A 'BH4-deficient hyperphenylalaninemia A' SubClassOf 'hyperphenylalaninemia due to tetrahydrobiopterin deficiency' http://purl.obolibrary.org/obo/MONDO_0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis 'autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis' SubClassOf 'partial deletion of the short arm of chromosome 16' 'autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis' SubClassOf 'familial cystic renal disease' http://purl.obolibrary.org/obo/MONDO_0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome 'blepharophimosis, ptosis, and epicanthus inversus syndrome' SubClassOf 'telecanthus' 'blepharophimosis, ptosis, and epicanthus inversus syndrome' SubClassOf 'inherited primary ovarian failure' 'blepharophimosis, ptosis, and epicanthus inversus syndrome' SubClassOf 'autosomal dominant disease' 'blepharophimosis, ptosis, and epicanthus inversus syndrome' SubClassOf 'secondary ectropion' http://purl.obolibrary.org/obo/MONDO_0009862 dihydropteridine reductase deficiency 'dihydropteridine reductase deficiency' SubClassOf 'hyperphenylalaninemia due to tetrahydrobiopterin deficiency' 'dihydropteridine reductase deficiency' SubClassOf 'tetrahydrobiopterin metabolic process disease' http://purl.obolibrary.org/obo/MONDO_0010855 short tarsus-absence of lower eyelashes syndrome 'short tarsus-absence of lower eyelashes syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009861 phenylketonuria 'phenylketonuria' SubClassOf 'cerebral organic aciduria' 'phenylketonuria' SubClassOf 'disorder of phenylalanine metabolism' 'phenylketonuria' SubClassOf 'autosomal recessive disease' 'phenylketonuria' SubClassOf 'neurometabolic disease' 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 'congenital nervous system disorder' 'macrocephaly-spastic paraplegia-dysmorphism syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'macrocephaly-spastic paraplegia-dysmorphism syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'macrocephaly-spastic paraplegia-dysmorphism syndrome' SubClassOf 'pure or complex autosomal recessive spastic paraplegia' 'macrocephaly-spastic paraplegia-dysmorphism syndrome' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0010857 semantic dementia 'semantic dementia' SubClassOf 'behavioral variant of frontotemporal dementia' 'semantic dementia' SubClassOf 'progressive non-fluent aphasia' http://purl.obolibrary.org/obo/MONDO_0010850 Tessier number 4 facial cleft 'Tessier number 4 facial cleft' SubClassOf 'oculomaxillofacial dysostosis' 'Tessier number 4 facial cleft' SubClassOf 'oblique facial cleft' 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' 'Lowry-MacLean syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Lowry-MacLean syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Lowry-MacLean syndrome' SubClassOf 'syndromic craniosynostosis' 'Lowry-MacLean syndrome' SubClassOf 'eye disease' 'Lowry-MacLean syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0007219 Osebold-Remondini syndrome 'Osebold-Remondini syndrome' SubClassOf 'acromesomelic dysplasia' 'Osebold-Remondini syndrome' SubClassOf 'brachydactyly' http://purl.obolibrary.org/obo/MONDO_0007218 brachydactyly type A4 'brachydactyly type A4' SubClassOf 'brachydactyly' http://purl.obolibrary.org/obo/MONDO_0009879 short stature due to growth hormone qualitative anomaly 'short stature due to growth hormone qualitative anomaly' SubClassOf 'isolated congenital growth hormone deficiency' http://purl.obolibrary.org/obo/MONDO_0007215 brachydactyly type A1 'brachydactyly type A1' SubClassOf 'brachydactyly' http://purl.obolibrary.org/obo/MONDO_0007216 brachydactyly type A2 'brachydactyly type A2' SubClassOf 'brachydactyly' 'brachydactyly type A2' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009877 Laron syndrome 'Laron syndrome' SubClassOf 'autosomal recessive disease' 'Laron syndrome' SubClassOf 'growth hormone insensitivity syndrome' http://purl.obolibrary.org/obo/MONDO_0007213 Ballard syndrome 'Ballard syndrome' SubClassOf 'brachydactyly' http://purl.obolibrary.org/obo/MONDO_0009876 isolated growth hormone deficiency type IA 'isolated growth hormone deficiency type IA' SubClassOf 'isolated congenital growth hormone deficiency' http://purl.obolibrary.org/obo/MONDO_0010865 pseudoaminopterin syndrome 'pseudoaminopterin syndrome' SubClassOf 'syndromic intellectual disability' 'pseudoaminopterin syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'pseudoaminopterin syndrome' SubClassOf 'congenital nervous system disorder' 'pseudoaminopterin syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'pseudoaminopterin syndrome' SubClassOf 'syndromic craniosynostosis' 'pseudoaminopterin syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0007214 brachydactyly-preaxial hallux varus syndrome 'brachydactyly-preaxial hallux varus syndrome' SubClassOf 'congenital limb malformation' http://purl.obolibrary.org/obo/MONDO_0007211 brachydactyly-arterial hypertension syndrome 'brachydactyly-arterial hypertension syndrome' SubClassOf 'genetic hypertension' 'brachydactyly-arterial hypertension syndrome' SubClassOf 'congenital limb malformation' 'brachydactyly-arterial hypertension syndrome' SubClassOf 'dysostosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0009874 Rabson-Mendenhall syndrome 'Rabson-Mendenhall syndrome' SubClassOf 'syndromic disease' 'Rabson-Mendenhall syndrome' SubClassOf 'hypertrichosis' 'Rabson-Mendenhall syndrome' SubClassOf 'inborn errors of metabolism' 'Rabson-Mendenhall syndrome' SubClassOf 'diabetes mellitus' http://purl.obolibrary.org/obo/MONDO_0010867 PARC syndrome 'PARC syndrome' SubClassOf 'orofacial clefting syndrome' 'PARC syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'PARC syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://purl.obolibrary.org/obo/MONDO_0007212 brachydactyly-long thumb syndrome 'brachydactyly-long thumb syndrome' SubClassOf 'heart-hand syndrome' 'brachydactyly-long thumb syndrome' SubClassOf 'genetic cardiac rhythm disease' http://purl.obolibrary.org/obo/MONDO_0009873 pilodental dysplasia-refractive errors syndrome 'pilodental dysplasia-refractive errors syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0010866 infantile osteopetrosis with neuroaxonal dysplasia 'infantile osteopetrosis with neuroaxonal dysplasia' SubClassOf 'osteopetrosis' http://purl.obolibrary.org/obo/MONDO_0009872 Bjornstad syndrome 'Bjornstad syndrome' SubClassOf 'isolated genetic hair shaft abnormality' 'Bjornstad syndrome' SubClassOf 'autosomal recessive disease' 'Bjornstad syndrome' SubClassOf 'mitochondrial disease' http://purl.obolibrary.org/obo/MONDO_0009871 pili torti-developmental delay-neurological abnormalities syndrome 'pili torti-developmental delay-neurological abnormalities syndrome' SubClassOf 'syndromic hair shaft abnormality' http://purl.obolibrary.org/obo/MONDO_0009870 pili torti 'pili torti' SubClassOf 'isolated genetic hair shaft abnormality' http://purl.obolibrary.org/obo/MONDO_0007226 brachydactyly-nystagmus-cerebellar ataxia syndrome 'brachydactyly-nystagmus-cerebellar ataxia syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'brachydactyly-nystagmus-cerebellar ataxia syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009889 autosomal recessive polycystic kidney disease 'autosomal recessive polycystic kidney disease' SubClassOf 'male infertility' 'autosomal recessive polycystic kidney disease' SubClassOf 'polycystic kidney disease' 'autosomal recessive polycystic kidney disease' SubClassOf 'autosomal recessive disease' 'autosomal recessive polycystic kidney disease' SubClassOf 'genetic infertility' http://purl.obolibrary.org/obo/MONDO_0007227 Sillence syndrome 'Sillence syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010876 recessive aplasia cutis congenita of limbs 'recessive aplasia cutis congenita of limbs' SubClassOf 'mixed dermis disorder' http://purl.obolibrary.org/obo/MONDO_0007225 fibular aplasia-ectrodactyly syndrome 'fibular aplasia-ectrodactyly syndrome' SubClassOf 'congenital limb malformation' 'fibular aplasia-ectrodactyly syndrome' SubClassOf 'dysostosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0009885 Scott syndrome 'Scott syndrome' SubClassOf 'inherited bleeding disorder, platelet-type' 'Scott syndrome' SubClassOf 'inherited blood coagulation disorder' http://purl.obolibrary.org/obo/MONDO_0010878 hereditary spastic paraplegia 6 'hereditary spastic paraplegia 6' SubClassOf 'pure or complex autosomal dominant spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0010877 Charcot-Marie-Tooth disease type 5 'Charcot-Marie-Tooth disease type 5' SubClassOf 'autosomal dominant hereditary axonal motor and sensory neuropathy' 'Charcot-Marie-Tooth disease type 5' SubClassOf 'motor peripheral neuropathy' 'Charcot-Marie-Tooth disease type 5' SubClassOf 'hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0009883 alpha-2-plasmin inhibitor deficiency 'alpha-2-plasmin inhibitor deficiency' SubClassOf 'coagulation protein disease' 'alpha-2-plasmin inhibitor deficiency' SubClassOf 'hemorrhagic disease' 'alpha-2-plasmin inhibitor deficiency' SubClassOf 'inherited blood coagulation disorder' http://purl.obolibrary.org/obo/MONDO_0007221 brachydactyly type C 'brachydactyly type C' SubClassOf 'brachydactyly' http://purl.obolibrary.org/obo/MONDO_0010879 CODAS syndrome 'CODAS syndrome' SubClassOf 'spondyloepiphyseal dysplasia' 'CODAS syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'CODAS syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009880 short stature-pituitary and cerebellar defects-small sella turcica syndrome 'short stature-pituitary and cerebellar defects-small sella turcica syndrome' SubClassOf 'combined pituitary hormone deficiencies, genetic form' 'short stature-pituitary and cerebellar defects-small sella turcica syndrome' SubClassOf 'non-acquired combined pituitary hormone deficiency' http://purl.obolibrary.org/obo/MONDO_0010870 tibial muscular dystrophy 'tibial muscular dystrophy' SubClassOf 'qualitative or quantitative defects of titin' 'tibial muscular dystrophy' SubClassOf 'autosomal dominant distal myopathy' http://purl.obolibrary.org/obo/MONDO_0019206 sparse hair-short stature-skin anomalies syndrome 'sparse hair-short stature-skin anomalies syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0019205 trichodysplasia-amelogenesis imperfecta syndrome 'trichodysplasia-amelogenesis imperfecta syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0019207 DEND syndrome 'DEND syndrome' SubClassOf 'epilepsy syndrome' 'DEND syndrome' SubClassOf 'permanent neonatal diabetes mellitus' 'DEND syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0019201 thyrotoxic periodic paralysis 'thyrotoxic periodic paralysis' SubClassOf 'familial periodic paralysis' http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa 'retinitis pigmentosa' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0007239 epidermolytic ichthyosis 'epidermolytic ichthyosis' SubClassOf 'keratinopathic ichthyosis' http://purl.obolibrary.org/obo/MONDO_0020213 stromal corneal dystrophy 'stromal corneal dystrophy' SubClassOf 'corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0007235 branchiooculofacial syndrome 'branchiooculofacial syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'branchiooculofacial syndrome' SubClassOf 'autosomal dominant disease' 'branchiooculofacial syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'branchiooculofacial syndrome' SubClassOf 'orofacial clefting syndrome' http://purl.obolibrary.org/obo/MONDO_0010887 isolated anterior cervical hypertrichosis 'isolated anterior cervical hypertrichosis' SubClassOf 'hypertrichosis' http://purl.obolibrary.org/obo/MONDO_0020212 superficial corneal dystrophy 'superficial corneal dystrophy' SubClassOf 'corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0009897 adult polyglucosan body disease 'adult polyglucosan body disease' SubClassOf 'glycogen storage disease due to glycogen branching enzyme deficiency' 'adult polyglucosan body disease' SubClassOf 'genetic peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0010886 2q37 microdeletion syndrome '2q37 microdeletion syndrome' SubClassOf 'syndromic disease' '2q37 microdeletion syndrome' SubClassOf 'dysostosis of genetic origin' '2q37 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 2' '2q37 microdeletion syndrome' SubClassOf 'congenital limb malformation' http://purl.obolibrary.org/obo/MONDO_0020211 syndromic keratoconus 'syndromic keratoconus' SubClassOf 'keratoconus' 'syndromic keratoconus' SubClassOf 'syndromic disease' 'syndromic keratoconus' EquivalentTo 'keratoconus' and ('has modifier' some 'has a syndromic presentation') http://purl.obolibrary.org/obo/MONDO_0009895 postaxial polydactyly-dental and vertebral anomalies syndrome 'postaxial polydactyly-dental and vertebral anomalies syndrome' SubClassOf 'disorder of development or morphogenesis' 'postaxial polydactyly-dental and vertebral anomalies syndrome' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0020210 syndromic hyperopia 'syndromic hyperopia' SubClassOf 'hyperopia' 'syndromic hyperopia' EquivalentTo 'hyperopia' and ('has modifier' some 'has a syndromic presentation') 'syndromic hyperopia' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007231 brachytelephalangy-dysmorphism-Kallmann syndrome 'brachytelephalangy-dysmorphism-Kallmann syndrome' SubClassOf 'congenital hypogonadotropic hypogonadism' 'brachytelephalangy-dysmorphism-Kallmann syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'brachytelephalangy-dysmorphism-Kallmann syndrome' SubClassOf 'dysostosis of genetic origin' 'brachytelephalangy-dysmorphism-Kallmann syndrome' SubClassOf 'congenital limb malformation' http://purl.obolibrary.org/obo/MONDO_0009894 short-rib thoracic dysplasia 6 with or without polydactyly 'short-rib thoracic dysplasia 6 with or without polydactyly' SubClassOf 'Jeune syndrome' 'short-rib thoracic dysplasia 6 with or without polydactyly' SubClassOf 'short rib-polydactyly syndrome, Majewski type' http://purl.obolibrary.org/obo/MONDO_0007232 autosomal dominant brachyolmia 'autosomal dominant brachyolmia' SubClassOf 'TRPV4-related bone disorder' 'autosomal dominant brachyolmia' SubClassOf 'brachyolmia' 'autosomal dominant brachyolmia' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0009892 Chuvash polycythemia 'Chuvash polycythemia' SubClassOf 'congenital secondary polycythemia' 'Chuvash polycythemia' SubClassOf 'familial polycythemia' http://purl.obolibrary.org/obo/MONDO_0007230 Brachymorphism-onychodysplasia-dysphalangism syndrome 'Brachymorphism-onychodysplasia-dysphalangism syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Brachymorphism-onychodysplasia-dysphalangism syndrome' SubClassOf 'dysostosis of genetic origin' 'Brachymorphism-onychodysplasia-dysphalangism syndrome' SubClassOf 'congenital limb malformation' http://purl.obolibrary.org/obo/MONDO_0020219 corneogoniodysgenesis 'corneogoniodysgenesis' SubClassOf 'corneal disease' http://purl.obolibrary.org/obo/MONDO_0010881 mesomelia-synostoses syndrome 'mesomelia-synostoses syndrome' SubClassOf 'partial deletion of the long arm of chromosome 8' 'mesomelia-synostoses syndrome' SubClassOf 'osteochondrodysplasia' http://purl.obolibrary.org/obo/MONDO_0020218 goniodysgenesis 'goniodysgenesis' SubClassOf 'secondary dysgenetic glaucoma' http://purl.obolibrary.org/obo/MONDO_0019216 inborn disorder of amino acid absorption and transport 'inborn disorder of amino acid absorption and transport' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' http://purl.obolibrary.org/obo/MONDO_0020216 secondary dysgenetic glaucoma 'secondary dysgenetic glaucoma' SubClassOf 'hereditary glaucoma' http://purl.obolibrary.org/obo/MONDO_0010882 aphalangy-syndactyly-microcephaly syndrome 'aphalangy-syndactyly-microcephaly syndrome' SubClassOf 'congenital limb malformation' 'aphalangy-syndactyly-microcephaly syndrome' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0020215 syndromic corneal dystrophy 'syndromic corneal dystrophy' SubClassOf 'corneal dystrophy' 'syndromic corneal dystrophy' SubClassOf 'syndromic disease' 'syndromic corneal dystrophy' EquivalentTo 'corneal dystrophy' and ('has modifier' some 'has a syndromic presentation') http://purl.obolibrary.org/obo/MONDO_0019219 inborn disorder of neurotransmitter metabolism and transport 'inborn disorder of neurotransmitter metabolism and transport' SubClassOf 'inborn disorder of biogenic amine metabolism and transport' http://purl.obolibrary.org/obo/MONDO_0020214 posterior corneal dystrophy 'posterior corneal dystrophy' SubClassOf 'corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0019218 inborn disorder of bile acid synthesis 'inborn disorder of bile acid synthesis' SubClassOf 'inherited organic acidemia' 'inborn disorder of bile acid synthesis' SubClassOf 'sterol metabolism disorder' http://purl.obolibrary.org/obo/MONDO_0019213 cerebral organic aciduria 'cerebral organic aciduria' SubClassOf 'genetic nervous system disorder' 'cerebral organic aciduria' SubClassOf 'inherited organic acidemia' 'cerebral organic aciduria' SubClassOf 'brain disease' http://purl.obolibrary.org/obo/MONDO_0019212 disseminated superficial actinic porokeratosis 'disseminated superficial actinic porokeratosis' SubClassOf 'porokeratosis' 'disseminated superficial actinic porokeratosis' SubClassOf 'has modifier' some 'disseminated' http://purl.obolibrary.org/obo/MONDO_0019215 classic organic aciduria 'classic organic aciduria' SubClassOf 'inherited organic acidemia' http://purl.obolibrary.org/obo/MONDO_0019214 inborn carbohydrate metabolic disorder 'inborn carbohydrate metabolic disorder' SubClassOf 'inborn errors of metabolism' 'inborn carbohydrate metabolic disorder' SubClassOf 'carbohydrate metabolism disease' http://purl.obolibrary.org/obo/MONDO_0019211 isolated congenital anonychia 'isolated congenital anonychia' SubClassOf 'inherited isolated nail anomaly' http://purl.obolibrary.org/obo/MONDO_0007248 hereditary painful callosities 'hereditary painful callosities' SubClassOf 'isolated focal palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0007249 camptobrachydactyly 'camptobrachydactyly' SubClassOf 'brachydactyly' http://purl.obolibrary.org/obo/MONDO_0010898 Autosomal dominant epilepsy with auditory features 'Autosomal dominant epilepsy with auditory features' SubClassOf 'temporal lobe epilepsy' http://purl.obolibrary.org/obo/MONDO_0007244 Caffey disease 'Caffey disease' SubClassOf 'neonatal osteosclerotic dysplasia' 'Caffey disease' SubClassOf 'bone inflammation disease' 'Caffey disease' SubClassOf 'genetic disorder' 'Caffey disease' SubClassOf 'hyperostosis' http://purl.obolibrary.org/obo/MONDO_0007245 cafe au lait spots, multiple 'cafe au lait spots, multiple' SubClassOf 'hyperpigmentation of the skin' http://purl.obolibrary.org/obo/MONDO_0010890 acrocardiofacial syndrome 'acrocardiofacial syndrome' SubClassOf 'orofacial clefting syndrome' 'acrocardiofacial syndrome' SubClassOf 'congenital nervous system disorder' 'acrocardiofacial syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'acrocardiofacial syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007250 camptodactyly of fingers 'camptodactyly of fingers' SubClassOf 'congenital deformities of fingers' http://purl.obolibrary.org/obo/MONDO_0020208 syndromic myopia 'syndromic myopia' SubClassOf 'genetic disorder' 'syndromic myopia' SubClassOf 'refractive error' 'syndromic myopia' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010891 lethal hemolytic anemia-genital anomalies syndrome 'lethal hemolytic anemia-genital anomalies syndrome' SubClassOf 'syndromic urogenital tract malformation' 'lethal hemolytic anemia-genital anomalies syndrome' SubClassOf 'normocytic anemia' http://purl.obolibrary.org/obo/MONDO_0019228 inborn disorder of histidine metabolism 'inborn disorder of histidine metabolism' SubClassOf 'histidine metabolism disease' 'inborn disorder of histidine metabolism' SubClassOf 'inherited amino acid metabolic disorder' http://purl.obolibrary.org/obo/MONDO_0020205 bulbar conjunctival dermoid or conjunctival dermolipoma 'bulbar conjunctival dermoid or conjunctival dermolipoma' SubClassOf 'conjunctival tumor' http://purl.obolibrary.org/obo/MONDO_0019227 inborn disorder of glycerol metabolism 'inborn disorder of glycerol metabolism' SubClassOf 'glycerol metabolism disease' 'inborn disorder of glycerol metabolism' SubClassOf 'inborn carbohydrate metabolic disorder' http://purl.obolibrary.org/obo/MONDO_0020204 conjunctival tumor 'conjunctival tumor' SubClassOf 'Conjunctival Disorder' 'conjunctival tumor' SubClassOf 'has modifier' some 'rare' 'conjunctival tumor' SubClassOf 'eye neoplasm' http://purl.obolibrary.org/obo/MONDO_0020203 pigmented conjunctival lesion 'pigmented conjunctival lesion' SubClassOf 'has modifier' some 'rare' 'pigmented conjunctival lesion' SubClassOf 'Conjunctival Disorder' http://purl.obolibrary.org/obo/MONDO_0019229 inborn disorder of ketolysis 'inborn disorder of ketolysis' SubClassOf 'inborn disorder of fatty acid oxidation and ketone body metabolism' http://purl.obolibrary.org/obo/MONDO_0019224 inborn disorder of gamma-aminobutyric acid metabolism 'inborn disorder of gamma-aminobutyric acid metabolism' SubClassOf 'inherited amino acid metabolic disorder' 'inborn disorder of gamma-aminobutyric acid metabolism' SubClassOf 'inborn disorder of biogenic amine metabolism and transport' http://purl.obolibrary.org/obo/MONDO_0019223 inborn disorder of fatty acid oxidation and ketone body metabolism 'inborn disorder of fatty acid oxidation and ketone body metabolism' SubClassOf 'inborn disorder of energy metabolism' http://purl.obolibrary.org/obo/MONDO_0019226 glucose transport disorder 'glucose transport disorder' SubClassOf 'carbohydrate transport disease' 'glucose transport disorder' SubClassOf 'disorder of carbohydrate absorption and transport' http://purl.obolibrary.org/obo/MONDO_0019225 gluconeogenesis disorder 'gluconeogenesis disorder' SubClassOf 'glucose metabolism disease' 'gluconeogenesis disorder' SubClassOf 'inborn carbohydrate metabolic disorder' http://purl.obolibrary.org/obo/MONDO_0019220 inborn disorder of cobalamin metabolism and transport 'inborn disorder of cobalamin metabolism and transport' SubClassOf 'disorder of vitamin and non-protein cofactor absorption and transport' http://purl.obolibrary.org/obo/MONDO_0019222 inborn disorder of methionine cycle and sulfur amino acid metabolism 'inborn disorder of methionine cycle and sulfur amino acid metabolism' SubClassOf 'inherited organic acidemia' 'inborn disorder of methionine cycle and sulfur amino acid metabolism' SubClassOf 'sulfur metabolism disease' http://purl.obolibrary.org/obo/MONDO_0019240 sterol biosynthesis disorder 'sterol biosynthesis disorder' SubClassOf 'developmental anomaly of metabolic origin' 'sterol biosynthesis disorder' SubClassOf 'sterol metabolism disorder' http://purl.obolibrary.org/obo/MONDO_0007259 craniofaciofrontodigital syndrome 'craniofaciofrontodigital syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'craniofaciofrontodigital syndrome' SubClassOf 'inherited cutis laxa' 'craniofaciofrontodigital syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0020235 lens size anomaly 'lens size anomaly' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0007251 campomelic dysplasia 'campomelic dysplasia' SubClassOf '46,XY disorder of sex development' 'campomelic dysplasia' SubClassOf 'bent bone dysplasia' 'campomelic dysplasia' SubClassOf 'osteochondrodysplasia' 'campomelic dysplasia' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0007252 Gordon syndrome 'Gordon syndrome' SubClassOf 'distal arthrogryposis' 'Gordon syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Gordon syndrome' SubClassOf 'orofacial clefting syndrome' 'Gordon syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://purl.obolibrary.org/obo/MONDO_0019239 inborn disorder of serine family metabolism 'inborn disorder of serine family metabolism' SubClassOf 'inherited amino acid metabolic disorder' http://purl.obolibrary.org/obo/MONDO_0019238 inborn disorder of pyrimidine metabolism 'inborn disorder of pyrimidine metabolism' SubClassOf 'pyrimidine metabolism disease' 'inborn disorder of pyrimidine metabolism' SubClassOf 'inborn disorder of purine or pyrimidine metabolism' http://purl.obolibrary.org/obo/MONDO_0020238 inherited vitreous-retinal disease 'inherited vitreous-retinal disease' SubClassOf 'retinopathy' 'inherited vitreous-retinal disease' SubClassOf 'genetic nervous system disorder' 'inherited vitreous-retinal disease' SubClassOf 'vitreous body disease' http://purl.obolibrary.org/obo/MONDO_0020237 lens shape anomaly 'lens shape anomaly' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0020236 lens position anomaly 'lens position anomaly' SubClassOf 'lens disease' http://purl.obolibrary.org/obo/MONDO_0019235 inborn disorder of phenylalanin or tyrosine metabolism 'inborn disorder of phenylalanin or tyrosine metabolism' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' http://purl.obolibrary.org/obo/MONDO_0019234 peroxisome biogenesis disorder 'peroxisome biogenesis disorder' SubClassOf 'autosomal recessive disease' 'peroxisome biogenesis disorder' SubClassOf 'leukodystrophy' 'peroxisome biogenesis disorder' SubClassOf 'neurometabolic disease' 'peroxisome biogenesis disorder' SubClassOf 'peroxisomal disease' 'peroxisome biogenesis disorder' SubClassOf 'syndromic disease' 'peroxisome biogenesis disorder' SubClassOf 'genetic peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0019237 inborn disorder of pyridoxine metabolism 'inborn disorder of pyridoxine metabolism' SubClassOf 'inborn disorder of biogenic amine metabolism and transport' 'inborn disorder of pyridoxine metabolism' SubClassOf 'vitamin metabolic disorder' http://purl.obolibrary.org/obo/MONDO_0019236 inborn disorder of purine metabolism 'inborn disorder of purine metabolism' SubClassOf 'purine metabolism disease' 'inborn disorder of purine metabolism' SubClassOf 'inborn disorder of purine or pyrimidine metabolism' http://purl.obolibrary.org/obo/MONDO_0019231 inborn disorder of pentose phosphate metabolism 'inborn disorder of pentose phosphate metabolism' SubClassOf 'disorders of pentose/polyol metabolism' http://purl.obolibrary.org/obo/MONDO_0019230 inborn disorder of ornithine or proline metabolism 'inborn disorder of ornithine or proline metabolism' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' http://purl.obolibrary.org/obo/MONDO_0019233 disorder of peroxisomal beta oxidation 'disorder of peroxisomal beta oxidation' SubClassOf 'peroxisomal single enzyme/protein defect' http://purl.obolibrary.org/obo/MONDO_0019232 inborn disorder of peptide metabolism 'inborn disorder of peptide metabolism' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' http://purl.obolibrary.org/obo/MONDO_0022880 corticobasal degeneration 'corticobasal degeneration' SubClassOf 'neurodegenerative disease' 'corticobasal degeneration' SubClassOf 'syndromic disease' 'corticobasal degeneration' SubClassOf 'brain disease' http://purl.obolibrary.org/obo/MONDO_0019251 oligosaccharidosis 'oligosaccharidosis' SubClassOf 'developmental anomaly of metabolic origin' 'oligosaccharidosis' SubClassOf 'inborn carbohydrate metabolic disorder' 'oligosaccharidosis' SubClassOf 'glycoproteinosis' http://purl.obolibrary.org/obo/MONDO_0019250 inborn disorder of biogenic amine metabolism and transport 'inborn disorder of biogenic amine metabolism and transport' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0007269 dilated cardiomyopathy 1A 'dilated cardiomyopathy 1A' SubClassOf 'syndromic disease' 'dilated cardiomyopathy 1A' SubClassOf 'familial isolated dilated cardiomyopathy' 'dilated cardiomyopathy 1A' SubClassOf 'disease has feature' some 'cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0020220 corneoiridogoniodysgenesis 'corneoiridogoniodysgenesis' SubClassOf 'secondary dysgenetic glaucoma' http://purl.obolibrary.org/obo/MONDO_0007271 familial cutaneous collagenoma 'familial cutaneous collagenoma' SubClassOf 'dermis elastic tissue disorder' http://purl.obolibrary.org/obo/MONDO_0007272 hereditary hypercarotenemia and vitamin A deficiency 'hereditary hypercarotenemia and vitamin A deficiency' SubClassOf 'disorder of other vitamins and cofactors metabolism and transport' http://purl.obolibrary.org/obo/MONDO_0019249 mucopolysaccharidosis 'mucopolysaccharidosis' SubClassOf 'mucopolysaccharidosis or mucopolysaccharidosis-like disorder' 'mucopolysaccharidosis' SubClassOf 'lysosomal storage disease' 'mucopolysaccharidosis' SubClassOf 'inborn carbohydrate metabolic disorder' 'mucopolysaccharidosis' SubClassOf 'eye disease' 'mucopolysaccharidosis' SubClassOf 'developmental anomaly of metabolic origin' http://purl.obolibrary.org/obo/MONDO_0020225 syndromic cataract 'syndromic cataract' SubClassOf 'has modifier' some 'rare' 'syndromic cataract' SubClassOf 'syndromic disease' 'syndromic cataract' SubClassOf 'cataract' 'syndromic cataract' EquivalentTo 'cataract' and ('has modifier' some 'has a syndromic presentation') http://purl.obolibrary.org/obo/MONDO_0019246 inborn disorder of lysosomal amino acid transport 'inborn disorder of lysosomal amino acid transport' SubClassOf 'lysosomal storage disease' http://purl.obolibrary.org/obo/MONDO_0019245 lysosomal lipid storage disorder 'lysosomal lipid storage disorder' SubClassOf 'lysosomal storage disease' 'lysosomal lipid storage disorder' SubClassOf 'inherited lipid metabolism disorder' http://purl.obolibrary.org/obo/MONDO_0019248 mucolipidosis 'mucolipidosis' SubClassOf 'glycoproteinosis' 'mucolipidosis' SubClassOf 'developmental anomaly of metabolic origin' http://purl.obolibrary.org/obo/MONDO_0019242 inborn disorder of branched-chain amino acid metabolism 'inborn disorder of branched-chain amino acid metabolism' SubClassOf 'inherited amino acid metabolic disorder' http://purl.obolibrary.org/obo/MONDO_0019241 inborn disorder of the gamma-glutamyl cycle 'inborn disorder of the gamma-glutamyl cycle' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' http://purl.obolibrary.org/obo/MONDO_0019243 inborn disorder of energy metabolism 'inborn disorder of energy metabolism' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0019260 adult neuronal ceroid lipofuscinosis 'adult neuronal ceroid lipofuscinosis' SubClassOf 'neuronal ceroid lipofuscinosis' 'adult neuronal ceroid lipofuscinosis' SubClassOf 'cerebral lipidosis with dementia' 'adult neuronal ceroid lipofuscinosis' SubClassOf 'progressive myoclonus epilepsy' http://purl.obolibrary.org/obo/MONDO_0019262 juvenile neuronal ceroid lipofuscinosis 'juvenile neuronal ceroid lipofuscinosis' SubClassOf 'progressive myoclonus epilepsy' 'juvenile neuronal ceroid lipofuscinosis' SubClassOf 'cerebral lipidosis with dementia' 'juvenile neuronal ceroid lipofuscinosis' SubClassOf 'neuronal ceroid lipofuscinosis' http://purl.obolibrary.org/obo/MONDO_0019261 infantile neuronal ceroid lipofuscinosis 'infantile neuronal ceroid lipofuscinosis' SubClassOf 'progressive myoclonus epilepsy' 'infantile neuronal ceroid lipofuscinosis' SubClassOf 'neuronal ceroid lipofuscinosis' 'infantile neuronal ceroid lipofuscinosis' SubClassOf 'cerebral lipidosis with dementia' 'infantile neuronal ceroid lipofuscinosis' SubClassOf 'infantile epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0020257 supranuclear oculomotor palsy 'supranuclear oculomotor palsy' SubClassOf 'oculomotor nerve paralysis' http://purl.obolibrary.org/obo/MONDO_0020256 congenital trochlear nerve palsy 'congenital trochlear nerve palsy' SubClassOf 'fourth cranial nerve palsy' http://purl.obolibrary.org/obo/MONDO_0007277 cataract-aberrant oral frenula-growth delay syndrome 'cataract-aberrant oral frenula-growth delay syndrome' SubClassOf 'autosomal dominant cataract' 'cataract-aberrant oral frenula-growth delay syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007276 cat-eye syndrome 'cat-eye syndrome' SubClassOf 'syndromic urogenital tract malformation' 'cat-eye syndrome' SubClassOf 'genetic disorder' 'cat-eye syndrome' SubClassOf 'syndromic renal or urinary tract malformation' 'cat-eye syndrome' SubClassOf 'syndromic anorectal malformation' 'cat-eye syndrome' SubClassOf 'neuro-ophthalmological disease' http://purl.obolibrary.org/obo/MONDO_0020252 essential strabismus 'essential strabismus' SubClassOf 'neuro-ophthalmological disease' http://purl.obolibrary.org/obo/MONDO_0020250 autosomal dominant optic atrophy 'autosomal dominant optic atrophy' SubClassOf 'eye degenerative disorder' 'autosomal dominant optic atrophy' SubClassOf 'autosomal dominant disease' 'autosomal dominant optic atrophy' SubClassOf 'hereditary optic atrophy' 'autosomal dominant optic atrophy' SubClassOf 'hereditary optic neuropathy' http://purl.obolibrary.org/obo/MONDO_0007280 cataract 8 multiple types 'cataract 8 multiple types' SubClassOf 'early-onset non-syndromic cataract' http://purl.obolibrary.org/obo/MONDO_0019257 hemochromatosis type 2 'hemochromatosis type 2' SubClassOf 'hereditary hemochromatosis' 'hemochromatosis type 2' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0019256 sterol metabolism disorder 'sterol metabolism disorder' SubClassOf 'inherited lipid metabolism disorder' 'sterol metabolism disorder' SubClassOf 'steroid metabolism disease' http://purl.obolibrary.org/obo/MONDO_0019259 classic phenylketonuria 'classic phenylketonuria' SubClassOf 'phenylketonuria' http://purl.obolibrary.org/obo/MONDO_0019258 mild phenylketonuria 'mild phenylketonuria' SubClassOf 'phenylketonuria' http://purl.obolibrary.org/obo/MONDO_0019253 metabolic disease involving other neurotransmitter deficiency 'metabolic disease involving other neurotransmitter deficiency' SubClassOf 'inborn disorder of biogenic amine metabolism and transport' http://purl.obolibrary.org/obo/MONDO_0019255 sphingolipidosis 'sphingolipidosis' SubClassOf 'lysosomal lipid storage disorder' http://purl.obolibrary.org/obo/MONDO_0019254 inborn disorder of purine or pyrimidine metabolism 'inborn disorder of purine or pyrimidine metabolism' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0019272 hereditary palmoplantar keratoderma 'hereditary palmoplantar keratoderma' SubClassOf 'genetic skin disease' 'hereditary palmoplantar keratoderma' SubClassOf 'epidermal disease' 'hereditary palmoplantar keratoderma' EquivalentTo 'palmoplantar keratosis' and ('has modifier' some 'inherited') 'hereditary palmoplantar keratoderma' SubClassOf 'palmoplantar keratosis' http://purl.obolibrary.org/obo/MONDO_0020246 inherited vitreoretinopathy 'inherited vitreoretinopathy' SubClassOf 'inherited vitreous-retinal disease' http://purl.obolibrary.org/obo/MONDO_0020245 disease predisposing to age-related macular degeneration 'disease predisposing to age-related macular degeneration' SubClassOf 'disease has feature' some 'age-related macular degeneration' 'disease predisposing to age-related macular degeneration' SubClassOf 'inherited vitreous-retinal disease' http://purl.obolibrary.org/obo/MONDO_0020242 genetic macular dystrophy 'genetic macular dystrophy' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0020240 syndromic retinitis pigmentosa 'syndromic retinitis pigmentosa' SubClassOf 'syndromic disease' 'syndromic retinitis pigmentosa' SubClassOf 'retinitis pigmentosa' 'syndromic retinitis pigmentosa' EquivalentTo 'retinitis pigmentosa' and ('has modifier' some 'has a syndromic presentation') http://purl.obolibrary.org/obo/MONDO_0007293 leukocyte adhesion deficiency 1 'leukocyte adhesion deficiency 1' SubClassOf 'leukocyte adhesion deficiency' http://purl.obolibrary.org/obo/MONDO_0007291 obsolete familial cerebral cavernous malformation 'obsolete familial cerebral cavernous malformation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020249 hereditary optic neuropathy 'hereditary optic neuropathy' SubClassOf 'has modifier' some 'rare' 'hereditary optic neuropathy' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0020248 vitreoretinal degeneration 'vitreoretinal degeneration' SubClassOf 'inherited vitreoretinopathy' 'vitreoretinal degeneration' SubClassOf 'inherited neurodegenerative disorder' 'vitreoretinal degeneration' SubClassOf 'vitreous syneresis' http://purl.obolibrary.org/obo/MONDO_0020247 congenital vitreoretinal dysplasia 'congenital vitreoretinal dysplasia' SubClassOf 'congenital nervous system disorder' 'congenital vitreoretinal dysplasia' SubClassOf 'inherited vitreoretinopathy' http://purl.obolibrary.org/obo/MONDO_0019267 vitamin B12-unresponsive methylmalonic acidemia type mut- 'vitamin B12-unresponsive methylmalonic acidemia type mut-' SubClassOf 'methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency' http://purl.obolibrary.org/obo/MONDO_0019264 alpha-N-acetylgalactosaminidase deficiency type 3 'alpha-N-acetylgalactosaminidase deficiency type 3' SubClassOf 'alpha-N-acetylgalactosaminidase deficiency' http://purl.obolibrary.org/obo/MONDO_0019265 diazoxide-resistant focal hyperinsulinism 'diazoxide-resistant focal hyperinsulinism' SubClassOf 'diazoxide-resistant hyperinsulinism' http://purl.obolibrary.org/obo/MONDO_0019282 syndromic hair shaft abnormality 'syndromic hair shaft abnormality' SubClassOf 'genetic hair anomaly' 'syndromic hair shaft abnormality' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0019281 isolated genetic hair shaft abnormality 'isolated genetic hair shaft abnormality' SubClassOf 'has modifier' some 'has an isolated presentation' 'isolated genetic hair shaft abnormality' SubClassOf 'genetic hair anomaly' http://purl.obolibrary.org/obo/MONDO_0019284 inherited isolated nail anomaly 'inherited isolated nail anomaly' SubClassOf 'genetic nail anomaly' 'inherited isolated nail anomaly' SubClassOf 'has modifier' some 'has an isolated presentation' 'inherited isolated nail anomaly' EquivalentTo 'nail disorder' and ('has modifier' some 'has an isolated presentation') and ('has modifier' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0019280 hypertrichosis 'hypertrichosis' SubClassOf 'genetic hair anomaly' http://purl.obolibrary.org/obo/MONDO_0044201 T+ B+ severe combined immunodeficiency 'T+ B+ severe combined immunodeficiency' SubClassOf 'severe combined immunodeficiency' 'T-B+ severe combined immunodeficiency' DisjointWith 'T+ B+ severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0007297 ADan amyloidosis 'ADan amyloidosis' SubClassOf 'cerebral amyloid angiopathy' 'ADan amyloidosis' SubClassOf 'ITM2B amyloidosis' http://purl.obolibrary.org/obo/MONDO_0020275 oculocutaneous or ocular albinism 'oculocutaneous or ocular albinism' SubClassOf 'eye disease' 'oculocutaneous or ocular albinism' SubClassOf 'albinism' 'oculocutaneous or ocular albinism' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0007298 spinocerebellar ataxia type 29 'spinocerebellar ataxia type 29' SubClassOf 'autosomal dominant cerebellar ataxia type I' http://purl.obolibrary.org/obo/MONDO_0007295 childhood epilepsy with centrotemporal spikes 'childhood epilepsy with centrotemporal spikes' SubClassOf 'childhood electroclinical syndrome' 'childhood epilepsy with centrotemporal spikes' SubClassOf 'familial partial epilepsy' http://purl.obolibrary.org/obo/MONDO_0044200 T-B+ severe combined immunodeficiency 'T-B+ severe combined immunodeficiency' SubClassOf 'severe combined immunodeficiency' 'T-B+ severe combined immunodeficiency' DisjointWith 'T+ B+ severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0007296 spinocerebellar ataxia type 31 'spinocerebellar ataxia type 31' SubClassOf 'autosomal dominant cerebellar ataxia type III' http://purl.obolibrary.org/obo/MONDO_0019276 inherited epidermolysis bullosa 'inherited epidermolysis bullosa' SubClassOf 'genetic skin disease' 'inherited epidermolysis bullosa' EquivalentTo 'epidermolysis bullosa' and ('has modifier' some 'inherited') 'inherited epidermolysis bullosa' SubClassOf 'epidermolysis bullosa' 'inherited epidermolysis bullosa' SubClassOf 'epidermal disease' http://purl.obolibrary.org/obo/MONDO_0019292 dermis elastic tissue disorder 'dermis elastic tissue disorder' SubClassOf 'dermis disorder' http://purl.obolibrary.org/obo/MONDO_0019290 hypopigmentation of the skin 'hypopigmentation of the skin' SubClassOf 'skin pigmentation disorder' http://purl.obolibrary.org/obo/MONDO_0019289 hyperpigmentation of the skin 'hyperpigmentation of the skin' SubClassOf 'skin pigmentation disorder' http://purl.obolibrary.org/obo/MONDO_0019285 syndromic nail anomaly 'syndromic nail anomaly' SubClassOf 'syndromic disease' 'syndromic nail anomaly' SubClassOf 'genetic nail anomaly' 'syndromic nail anomaly' EquivalentTo 'nail anomaly' and ('has modifier' some 'has a syndromic presentation') http://purl.obolibrary.org/obo/MONDO_0019288 skin pigmentation disorder 'skin pigmentation disorder' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0019287 ectodermal dysplasia syndrome 'ectodermal dysplasia syndrome' SubClassOf 'genetic epidermal appendage anomaly' 'ectodermal dysplasia syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0020292 congenital anomaly of the great arteries 'congenital anomaly of the great arteries' SubClassOf 'congenital heart malformation' 'congenital anomaly of the great arteries' SubClassOf 'has modifier' some 'congenital' 'congenital anomaly of the great arteries' SubClassOf 'vascular anomaly' 'congenital anomaly of the great arteries' SubClassOf 'genetic vascular anomaly' http://purl.obolibrary.org/obo/MONDO_0020298 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 'Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15' SubClassOf 'Prader-Willi syndrome' 'Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15' SubClassOf 'chromosome 15 disorder' 'Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15' SubClassOf 'uniparental disomy' http://purl.obolibrary.org/obo/MONDO_0020297 Noonan syndrome and Noonan-related syndrome 'Noonan syndrome and Noonan-related syndrome' SubClassOf 'rasopathy' 'Noonan syndrome and Noonan-related syndrome' SubClassOf 'familial hypertrophic cardiomyopathy' 'Noonan syndrome and Noonan-related syndrome' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0019297 lymphedema 'lymphedema' SubClassOf 'lymphatic system disease' http://purl.obolibrary.org/obo/MONDO_0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency 'hereditary myopathy with lactic acidosis due to ISCU deficiency' SubClassOf 'genetic disorder' 'hereditary myopathy with lactic acidosis due to ISCU deficiency' SubClassOf 'mitochondrial disease' 'hereditary myopathy with lactic acidosis due to ISCU deficiency' SubClassOf 'metabolic myopathy' http://purl.obolibrary.org/obo/MONDO_0009705 carnitine palmitoyl transferase 1A deficiency 'carnitine palmitoyl transferase 1A deficiency' SubClassOf 'disorder of carnitine cycle and carnitine transport' 'carnitine palmitoyl transferase 1A deficiency' SubClassOf 'inherited fatty acid metabolism disorder' http://purl.obolibrary.org/obo/MONDO_0009704 carnitine palmitoyl transferase II deficiency, myopathic form 'carnitine palmitoyl transferase II deficiency, myopathic form' SubClassOf 'carnitine palmitoyltransferase II deficiency' http://purl.obolibrary.org/obo/MONDO_0009700 Carey-Fineman-Ziter syndrome 'Carey-Fineman-Ziter syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'Carey-Fineman-Ziter syndrome' SubClassOf 'orofacial clefting syndrome' 'Carey-Fineman-Ziter syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0009719 familial atrial myxoma 'familial atrial myxoma' SubClassOf 'inherited cardiac tumor' http://purl.obolibrary.org/obo/MONDO_0010708 Pallister-W syndrome 'Pallister-W syndrome' SubClassOf 'congenital nervous system disorder' 'Pallister-W syndrome' SubClassOf 'epilepsy syndrome' 'Pallister-W syndrome' SubClassOf 'orofacial clefting syndrome' 'Pallister-W syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Pallister-W syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Pallister-W syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'Pallister-W syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0009717 Schwartz-Jampel syndrome 'Schwartz-Jampel syndrome' SubClassOf 'autosomal recessive disease' 'Schwartz-Jampel syndrome' SubClassOf 'qualitative or quantitative defects of perlecan' 'Schwartz-Jampel syndrome' SubClassOf 'congenital nervous system disorder' 'Schwartz-Jampel syndrome' SubClassOf 'spondyloepiphyseal dysplasia' 'Schwartz-Jampel syndrome' SubClassOf 'congenital myotonia' 'Schwartz-Jampel syndrome' SubClassOf 'perlecan-related bone disorder' 'Schwartz-Jampel syndrome' SubClassOf 'syndromic myopia' 'Schwartz-Jampel syndrome' SubClassOf 'progressive muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0009716 Richieri Costa-da Silva syndrome 'Richieri Costa-da Silva syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Richieri Costa-da Silva syndrome' SubClassOf 'spondyloepiphyseal dysplasia' 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' 'early-onset parkinsonism-intellectual disability syndrome' SubClassOf 'parkinsonian disorder' http://purl.obolibrary.org/obo/MONDO_0009714 myosclerosis 'myosclerosis' SubClassOf 'collagen 6-related myopathy' http://purl.obolibrary.org/obo/MONDO_0009712 congenital multicore myopathy with external ophthalmoplegia 'congenital multicore myopathy with external ophthalmoplegia' SubClassOf 'multiminicore myopathy' 'congenital multicore myopathy with external ophthalmoplegia' SubClassOf 'RYR1-related myopathy' http://purl.obolibrary.org/obo/MONDO_0009711 congenital fiber-type disproportion myopathy 'congenital fiber-type disproportion myopathy' SubClassOf 'congenital myopathy' 'congenital fiber-type disproportion myopathy' SubClassOf 'congenital structural myopathy' http://purl.obolibrary.org/obo/MONDO_0009710 Thomsen and Becker disease 'Thomsen and Becker disease' SubClassOf 'congenital myopathy' 'Thomsen and Becker disease' SubClassOf 'muscular channelopathy' 'Thomsen and Becker disease' SubClassOf 'congenital nervous system disorder' 'Thomsen and Becker disease' SubClassOf 'congenital myotonia' http://purl.obolibrary.org/obo/MONDO_0010702 orofaciodigital syndrome I 'orofaciodigital syndrome I' SubClassOf 'X-linked syndromic intellectual disability' 'orofaciodigital syndrome I' SubClassOf 'genetic sebaceous gland anomaly' 'orofaciodigital syndrome I' SubClassOf 'ectodermal dysplasia syndrome' 'orofaciodigital syndrome I' SubClassOf 'polycystic kidney disease' 'orofaciodigital syndrome I' SubClassOf 'syndromic genetic hearing loss' 'orofaciodigital syndrome I' SubClassOf 'neurodevelopmental disorder' 'orofaciodigital syndrome I' SubClassOf 'syndromic urogenital tract malformation' 'orofaciodigital syndrome I' SubClassOf 'orofaciodigital syndrome' 'orofaciodigital syndrome I' SubClassOf 'X-linked deafness' 'orofaciodigital syndrome I' SubClassOf 'nephropathy-associated ciliopathy' 'orofaciodigital syndrome I' SubClassOf 'syndromic renal or urinary tract malformation' http://purl.obolibrary.org/obo/MONDO_0010704 otopalatodigital syndrome type 1 'otopalatodigital syndrome type 1' SubClassOf 'otopalatodigital syndrome' http://purl.obolibrary.org/obo/MONDO_0009729 nephropathy - deafness - hyperparathyroidism syndrome 'nephropathy - deafness - hyperparathyroidism syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0010718 absent radius-anogenital anomalies syndrome 'absent radius-anogenital anomalies syndrome' SubClassOf 'congenital limb malformation' 'absent radius-anogenital anomalies syndrome' SubClassOf 'dysostosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0009728 nephronophthisis 1 'nephronophthisis 1' SubClassOf 'syndromic disease' 'nephronophthisis 1' SubClassOf 'nephronophthisis' 'nephronophthisis 1' SubClassOf 'nephropathy-associated ciliopathy' http://purl.obolibrary.org/obo/MONDO_0009727 atelosteogenesis type II 'atelosteogenesis type II' SubClassOf 'genetic otorhinolaryngologic disease' 'atelosteogenesis type II' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'atelosteogenesis type II' SubClassOf 'mesomelic and rhizo-mesomelic dysplasia' 'atelosteogenesis type II' SubClassOf 'congenital nervous system disorder' 'atelosteogenesis type II' SubClassOf 'sulfation-related bone disorder' 'atelosteogenesis type II' SubClassOf 'syndromic intellectual disability' 'atelosteogenesis type II' SubClassOf 'atelosteogenesis' 'atelosteogenesis type II' SubClassOf 'genetic nervous system disorder' 'atelosteogenesis type II' SubClassOf 'genetic syndromic Pierre Robin syndrome' 'atelosteogenesis type II' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0009726 proteosome-associated autoinflammatory syndrome 'proteosome-associated autoinflammatory syndrome' SubClassOf 'primary immunodeficiency due to a genetic defect in innate immunity' 'proteosome-associated autoinflammatory syndrome' SubClassOf 'hereditary disorder of connective tissue' 'proteosome-associated autoinflammatory syndrome' SubClassOf 'autosomal recessive disease' 'proteosome-associated autoinflammatory syndrome' SubClassOf 'type 1 interferonopathy' http://purl.obolibrary.org/obo/MONDO_0009724 nail-patella-like renal disease 'nail-patella-like renal disease' SubClassOf 'primary glomerular disease' http://purl.obolibrary.org/obo/MONDO_0009723 Leigh syndrome 'Leigh syndrome' SubClassOf 'mitochondrial oxidative phosphorylation disorder' 'Leigh syndrome' SubClassOf 'neurometabolic disease' 'Leigh syndrome' SubClassOf 'supranuclear oculomotor palsy' 'Leigh syndrome' SubClassOf 'genetic peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0009722 Bailey-Bloch congenital myopathy 'Bailey-Bloch congenital myopathy' SubClassOf 'genetic nervous system disorder' 'Bailey-Bloch congenital myopathy' SubClassOf 'genetic otorhinolaryngologic disease' 'Bailey-Bloch congenital myopathy' SubClassOf 'congenital nervous system disorder' 'Bailey-Bloch congenital myopathy' SubClassOf 'orofacial clefting syndrome' 'Bailey-Bloch congenital myopathy' SubClassOf 'congenital myopathy' http://purl.obolibrary.org/obo/MONDO_0010711 TARP syndrome 'TARP syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'TARP syndrome' SubClassOf 'heart disease' 'TARP syndrome' SubClassOf 'genetic syndromic Pierre Robin syndrome' http://purl.obolibrary.org/obo/MONDO_0009721 Nathalie syndrome 'Nathalie syndrome' SubClassOf 'syndromic cataract' http://purl.obolibrary.org/obo/MONDO_0010710 Pierre Robin syndrome-faciodigital anomaly syndrome 'Pierre Robin syndrome-faciodigital anomaly syndrome' SubClassOf 'orofacial clefting syndrome' http://purl.obolibrary.org/obo/MONDO_0009720 Keipert syndrome 'Keipert syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010713 properdin deficiency, X-linked 'properdin deficiency, X-linked' SubClassOf 'inborn errors of immunity' http://purl.obolibrary.org/obo/MONDO_0010714 Pelizaeus-Merzbacher disease 'Pelizaeus-Merzbacher disease' SubClassOf 'leukodystrophy' 'Pelizaeus-Merzbacher disease' SubClassOf 'X-linked syndromic intellectual disability' 'Pelizaeus-Merzbacher disease' SubClassOf 'eye degenerative disorder' 'Pelizaeus-Merzbacher disease' SubClassOf 'syndromic hereditary optic neuropathy' http://purl.obolibrary.org/obo/MONDO_0010717 pyruvate dehydrogenase E1-alpha deficiency 'pyruvate dehydrogenase E1-alpha deficiency' SubClassOf 'pyruvate dehydrogenase deficiency' http://purl.obolibrary.org/obo/MONDO_0010716 X-linked lethal multiple pterygium syndrome 'X-linked lethal multiple pterygium syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'X-linked lethal multiple pterygium syndrome' SubClassOf 'lethal multiple pterygium syndrome' 'X-linked lethal multiple pterygium syndrome' SubClassOf 'X-linked disease' 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' http://purl.obolibrary.org/obo/MONDO_0009738 sialidosis type 2 'sialidosis type 2' SubClassOf 'nephropathy secondary to a storage or other metabolic disease' 'sialidosis type 2' SubClassOf 'sialidosis' 'sialidosis type 2' SubClassOf 'eye disease' 'sialidosis type 2' SubClassOf 'disease has feature' some 'nephrosis' 'sialidosis type 2' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'sialidosis type 2' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'sialidosis type 2' SubClassOf 'bone disease' http://purl.obolibrary.org/obo/MONDO_0009737 galactosialidosis 'galactosialidosis' SubClassOf 'oligosaccharidosis' 'galactosialidosis' SubClassOf 'bone disease' 'galactosialidosis' SubClassOf 'neurometabolic disease' 'galactosialidosis' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0009735 Netherton syndrome 'Netherton syndrome' SubClassOf 'autosomal recessive disease' 'Netherton syndrome' SubClassOf 'hyper-IgE syndrome' 'Netherton syndrome' SubClassOf 'eye disease' 'Netherton syndrome' SubClassOf 'autosomal ichthyosis syndrome' http://purl.obolibrary.org/obo/MONDO_0010722 X-linked retinal dysplasia 'X-linked retinal dysplasia' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0009732 congenital nephrotic syndrome, Finnish type 'congenital nephrotic syndrome, Finnish type' SubClassOf 'familial nephrotic syndrome' 'congenital nephrotic syndrome, Finnish type' SubClassOf 'primary glomerular disease' http://purl.obolibrary.org/obo/MONDO_0009731 nephrosis-deafness-urinary tract-digital malformations syndrome 'nephrosis-deafness-urinary tract-digital malformations syndrome' SubClassOf 'syndromic urogenital tract malformation' 'nephrosis-deafness-urinary tract-digital malformations syndrome' SubClassOf 'congenital nervous system disorder' 'nephrosis-deafness-urinary tract-digital malformations syndrome' SubClassOf 'syndromic genetic hearing loss' 'nephrosis-deafness-urinary tract-digital malformations syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'nephrosis-deafness-urinary tract-digital malformations syndrome' SubClassOf 'syndromic renal or urinary tract malformation' http://purl.obolibrary.org/obo/MONDO_0010726 Rett syndrome 'Rett syndrome' SubClassOf 'pervasive developmental disorder' 'Rett syndrome' SubClassOf 'motor stereotypies' 'Rett syndrome' SubClassOf 'X-linked complex neurodevelopmental disorder' 'Rett syndrome' SubClassOf 'disease has feature' some 'autism' 'Rett syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010725 X-linked retinoschisis 'X-linked retinoschisis' SubClassOf 'vitreoretinal degeneration' 'X-linked retinoschisis' SubClassOf 'retinoschisis' 'X-linked retinoschisis' SubClassOf 'inherited retinal dystrophy' 'X-linked retinoschisis' SubClassOf 'non-syndromic developmental defect of the eye' 'X-linked retinoschisis' SubClassOf 'X-linked disease' http://purl.obolibrary.org/obo/MONDO_0010728 SCARF syndrome 'SCARF syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'SCARF syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'SCARF syndrome' SubClassOf 'inherited cutis laxa' 'SCARF syndrome' SubClassOf 'congenital nervous system disorder' 'SCARF syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'SCARF syndrome' SubClassOf 'syndromic craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0010720 partial androgen insensitivity syndrome 'partial androgen insensitivity syndrome' SubClassOf 'androgen insensitivity syndrome' http://purl.obolibrary.org/obo/MONDO_0009748 hereditary sensory and autonomic neuropathy with spastic paraplegia 'hereditary sensory and autonomic neuropathy with spastic paraplegia' SubClassOf 'autosomal recessive hereditary sensory and autonomic neuropathy' 'hereditary sensory and autonomic neuropathy with spastic paraplegia' SubClassOf 'autosomal recessive complex spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0009747 Navajo neurohepatopathy 'Navajo neurohepatopathy' SubClassOf 'mitochondrial DNA depletion syndrome, hepatocerebral form' http://purl.obolibrary.org/obo/MONDO_0009746 hereditary sensory and autonomic neuropathy type 4 'hereditary sensory and autonomic neuropathy type 4' SubClassOf 'autosomal recessive hereditary sensory and autonomic neuropathy' http://purl.obolibrary.org/obo/MONDO_0009745 neuronal ceroid lipofuscinosis 5 'neuronal ceroid lipofuscinosis 5' SubClassOf 'late infantile neuronal ceroid lipofuscinosis' http://purl.obolibrary.org/obo/MONDO_0009744 neuronal ceroid lipofuscinosis 1 'neuronal ceroid lipofuscinosis 1' SubClassOf 'neuronal ceroid lipofuscinosis' http://purl.obolibrary.org/obo/MONDO_0010733 hereditary spastic paraplegia 2 'hereditary spastic paraplegia 2' SubClassOf 'leukodystrophy' 'hereditary spastic paraplegia 2' SubClassOf 'eye degenerative disorder' 'hereditary spastic paraplegia 2' SubClassOf 'complex hereditary spastic paraplegia' 'hereditary spastic paraplegia 2' SubClassOf 'facial paralysis' 'hereditary spastic paraplegia 2' SubClassOf 'pure or complex X-linked spastic paraplegia' 'hereditary spastic paraplegia 2' SubClassOf 'syndromic hereditary optic neuropathy' http://purl.obolibrary.org/obo/MONDO_0010732 spastic paraparesis-deafness syndrome 'spastic paraparesis-deafness syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0009742 neuroectodermal melanolysosomal disease 'neuroectodermal melanolysosomal disease' SubClassOf 'eye disease' 'neuroectodermal melanolysosomal disease' SubClassOf 'overgrowth syndrome' 'neuroectodermal melanolysosomal disease' SubClassOf 'hyperpigmentation of the skin' http://purl.obolibrary.org/obo/MONDO_0010735 Kennedy disease 'Kennedy disease' SubClassOf 'hereditary motor neuron disease' 'Kennedy disease' SubClassOf 'genetic infertility' 'Kennedy disease' SubClassOf 'male infertility' 'Kennedy disease' SubClassOf 'bulbospinal muscular atrophy of adulthood' http://purl.obolibrary.org/obo/MONDO_0009740 neurofaciodigitorenal syndrome 'neurofaciodigitorenal syndrome' SubClassOf 'syndromic intellectual disability' 'neurofaciodigitorenal syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'neurofaciodigitorenal syndrome' SubClassOf 'syndromic urogenital tract malformation' 'neurofaciodigitorenal syndrome' SubClassOf 'syndromic renal or urinary tract malformation' 'neurofaciodigitorenal syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0010738 spondylometaphyseal dysplasia, Golden type 'spondylometaphyseal dysplasia, Golden type' SubClassOf 'spondylometaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0010731 Simpson-Golabi-Behmel syndrome 'Simpson-Golabi-Behmel syndrome' SubClassOf 'syndromic disease' 'Simpson-Golabi-Behmel syndrome' SubClassOf 'overgrowth syndrome' http://purl.obolibrary.org/obo/MONDO_0009756 Niemann-Pick disease type A 'Niemann-Pick disease type A' SubClassOf 'Niemann-Pick disease' 'Niemann-Pick disease type A' SubClassOf 'neurometabolic disease' 'Niemann-Pick disease type A' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0010743 thrombocytopenia 1 'thrombocytopenia 1' SubClassOf 'hereditary thrombocytopenia with normal platelets' http://purl.obolibrary.org/obo/MONDO_0010745 beta-thalassemia-X-linked thrombocytopenia syndrome 'beta-thalassemia-X-linked thrombocytopenia syndrome' SubClassOf 'GATA1-Related X-Linked Cytopenia' 'beta-thalassemia-X-linked thrombocytopenia syndrome' SubClassOf 'beta-thalassemia and related diseases' http://purl.obolibrary.org/obo/MONDO_0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome 'torticollis-keloids-cryptorchidism-renal dysplasia syndrome' SubClassOf 'syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0010747 X-linked dystonia-parkinsonism 'X-linked dystonia-parkinsonism' SubClassOf 'focal dystonia' 'X-linked dystonia-parkinsonism' SubClassOf 'persistent combined dystonia' 'X-linked dystonia-parkinsonism' SubClassOf 'parkinsonian disorder' http://purl.obolibrary.org/obo/MONDO_0010749 trigonocephaly-short stature-developmental delay syndrome 'trigonocephaly-short stature-developmental delay syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'trigonocephaly-short stature-developmental delay syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'trigonocephaly-short stature-developmental delay syndrome' SubClassOf 'congenital nervous system disorder' 'trigonocephaly-short stature-developmental delay syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'trigonocephaly-short stature-developmental delay syndrome' SubClassOf 'syndromic craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0010742 pentalogy of Cantrell 'pentalogy of Cantrell' SubClassOf 'syndromic diaphragmatic or thoracic malformation' 'pentalogy of Cantrell' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'pentalogy of Cantrell' SubClassOf 'syndromic diaphragmatic or abdominal wall malformation' http://purl.obolibrary.org/obo/MONDO_0007109 congenital dyserythropoietic anemia type 3 'congenital dyserythropoietic anemia type 3' SubClassOf 'congenital dyserythropoietic anemia' 'congenital dyserythropoietic anemia type 3' SubClassOf 'congenital anemia' 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' 'oculo-palato-cerebral syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'oculo-palato-cerebral syndrome' SubClassOf 'orofacial clefting syndrome' http://purl.obolibrary.org/obo/MONDO_0009767 oculocerebral hypopigmentation syndrome, Cross type 'oculocerebral hypopigmentation syndrome, Cross type' SubClassOf 'syndromic oculocutaneous albinism' 'oculocerebral hypopigmentation syndrome, Cross type' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0010754 van den Bosch syndrome 'van den Bosch syndrome' SubClassOf 'acrokeratoderma' 'van den Bosch syndrome' SubClassOf 'genetic skin disease' 'van den Bosch syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007101 familial primary localized cutaneous amyloidosis 'familial primary localized cutaneous amyloidosis' SubClassOf 'genetic skin disease' 'familial primary localized cutaneous amyloidosis' SubClassOf 'primary cutaneous amyloidosis' 'familial primary localized cutaneous amyloidosis' SubClassOf 'hereditary amyloidosis' 'familial primary localized cutaneous amyloidosis' EquivalentTo 'primary cutaneous amyloidosis' and ('has modifier' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0009764 ocular motor apraxia, Cogan type 'ocular motor apraxia, Cogan type' SubClassOf 'neuro-ophthalmological disease' http://purl.obolibrary.org/obo/MONDO_0010759 Wildervanck syndrome 'Wildervanck syndrome' SubClassOf 'dysostosis of genetic origin' 'Wildervanck syndrome' SubClassOf 'disease has feature' some 'Klippel-Feil syndrome' 'Wildervanck syndrome' SubClassOf 'branchial arch or oral-acral syndrome' http://purl.obolibrary.org/obo/MONDO_0010758 Wieacker-Wolff syndrome 'Wieacker-Wolff syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Wieacker-Wolff syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Wieacker-Wolff syndrome' SubClassOf 'neurodevelopmental disorder' 'Wieacker-Wolff syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Wieacker-Wolff syndrome' SubClassOf 'congenital nervous system disorder' 'Wieacker-Wolff syndrome' SubClassOf 'Wieacker-Wolff syndrome (spectrum)' http://purl.obolibrary.org/obo/MONDO_0009760 Norman-Roberts syndrome 'Norman-Roberts syndrome' SubClassOf 'lymphatic malformation' 'Norman-Roberts syndrome' SubClassOf 'neurovascular disorder' 'Norman-Roberts syndrome' SubClassOf 'microlissencephaly' 'Norman-Roberts syndrome' SubClassOf 'syndromic lymphedema' http://purl.obolibrary.org/obo/MONDO_0010750 ulnar hypoplasia-split foot syndrome 'ulnar hypoplasia-split foot syndrome' SubClassOf 'congenital limb malformation' 'ulnar hypoplasia-split foot syndrome' SubClassOf 'dysostosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0007119 isolated aniridia 'isolated aniridia' SubClassOf 'non-syndromic developmental defect of the eye' 'isolated aniridia' EquivalentTo 'aniridia' and ('has modifier' some 'has an isolated presentation') 'isolated aniridia' SubClassOf 'aniridia' 'isolated aniridia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007116 hereditary neurocutaneous angioma 'hereditary neurocutaneous angioma' SubClassOf 'vascular neoplasm' 'hereditary neurocutaneous angioma' SubClassOf 'neurovascular malformation' 'hereditary neurocutaneous angioma' SubClassOf 'genetic central nervous system and retinal vascular disease' 'hereditary neurocutaneous angioma' SubClassOf 'developmental defect during embryogenesis' 'hereditary neurocutaneous angioma' SubClassOf 'nervous system neoplasm' http://purl.obolibrary.org/obo/MONDO_0009779 autosomal recessive omodysplasia 'autosomal recessive omodysplasia' SubClassOf 'omodysplasia' 'autosomal recessive omodysplasia' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0007114 angel-shaped phalango-epiphyseal dysplasia 'angel-shaped phalango-epiphyseal dysplasia' SubClassOf 'acromelic dysplasia' http://purl.obolibrary.org/obo/MONDO_0009777 Oliver syndrome 'Oliver syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Oliver syndrome' SubClassOf 'syndromic intellectual disability' 'Oliver syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0010765 46,XY complete gonadal dysgenesis '46,XY complete gonadal dysgenesis' SubClassOf '46,XY disorder of gonadal development' '46,XY complete gonadal dysgenesis' SubClassOf 'gonadal dysgenesis' '46,XY complete gonadal dysgenesis' SubClassOf 'familial hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0007112 interventricular septum aneurysm 'interventricular septum aneurysm' SubClassOf 'congenital anomaly of ventricular septum' http://purl.obolibrary.org/obo/MONDO_0007113 Angelman syndrome 'Angelman syndrome' SubClassOf 'genetic nervous system disorder' 'Angelman syndrome' SubClassOf 'epilepsy' 'Angelman syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009774 cloacal exstrophy 'cloacal exstrophy' SubClassOf 'syndromic urogenital tract malformation' 'cloacal exstrophy' SubClassOf 'syndromic anorectal malformation' 'cloacal exstrophy' SubClassOf 'syndromic diaphragmatic or abdominal wall malformation' 'cloacal exstrophy' SubClassOf 'exstrophy-epispadias complex' http://purl.obolibrary.org/obo/MONDO_0009773 odonto-onycho-dermal dysplasia 'odonto-onycho-dermal dysplasia' SubClassOf 'autosomal recessive disease' 'odonto-onycho-dermal dysplasia' SubClassOf 'ectodermal dysplasia WNT10A related' 'odonto-onycho-dermal dysplasia' SubClassOf 'diffuse palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0009771 oculotrichodysplasia 'oculotrichodysplasia' SubClassOf 'syndromic retinitis pigmentosa' 'oculotrichodysplasia' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0009780 lethal omphalocele-cleft palate syndrome 'lethal omphalocele-cleft palate syndrome' SubClassOf 'syndromic diaphragmatic or abdominal wall malformation' 'lethal omphalocele-cleft palate syndrome' SubClassOf 'syndromic intellectual disability' 'lethal omphalocele-cleft palate syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'lethal omphalocele-cleft palate syndrome' SubClassOf 'congenital nervous system disorder' 'lethal omphalocele-cleft palate syndrome' SubClassOf 'orofacial clefting syndrome' http://purl.obolibrary.org/obo/MONDO_0022756 chromosome 1q deletion 'chromosome 1q deletion' SubClassOf 'partial deletion of chromosome 1' http://purl.obolibrary.org/obo/MONDO_0009787 3-methylglutaconic aciduria type 3 '3-methylglutaconic aciduria type 3' SubClassOf 'syndromic hereditary optic neuropathy' '3-methylglutaconic aciduria type 3' SubClassOf '3-methylglutaconic aciduria' http://purl.obolibrary.org/obo/MONDO_0007123 ankyloblepharon filiforme adnatum-cleft palate syndrome 'ankyloblepharon filiforme adnatum-cleft palate syndrome' SubClassOf 'orofacial clefting syndrome' 'ankyloblepharon filiforme adnatum-cleft palate syndrome' SubClassOf 'syndromic ankyloblepharon' http://purl.obolibrary.org/obo/MONDO_0009786 optic atrophy 6 'optic atrophy 6' SubClassOf 'autosomal recessive optic atrophy' http://purl.obolibrary.org/obo/MONDO_0010779 mitochondrial non-syndromic sensorineural hearing loss 'mitochondrial non-syndromic sensorineural hearing loss' SubClassOf 'prelingual non-syndromic genetic hearing loss' 'mitochondrial non-syndromic sensorineural hearing loss' SubClassOf 'mitochondrial oxidative phosphorylation disorder' 'mitochondrial non-syndromic sensorineural hearing loss' SubClassOf 'postlingual non-syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome 'ankyloblepharon-ectodermal defects-cleft lip/palate syndrome' SubClassOf 'syndromic ankyloblepharon' 'ankyloblepharon-ectodermal defects-cleft lip/palate syndrome' SubClassOf 'dysostosis of genetic origin' 'ankyloblepharon-ectodermal defects-cleft lip/palate syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'ankyloblepharon-ectodermal defects-cleft lip/palate syndrome' SubClassOf 'congenital limb malformation' http://purl.obolibrary.org/obo/MONDO_0009785 opsismodysplasia 'opsismodysplasia' SubClassOf 'genetic disorder' 'opsismodysplasia' SubClassOf 'spondylodysplastic dysplasia' http://purl.obolibrary.org/obo/MONDO_0007120 aniridia-absent patella syndrome 'aniridia-absent patella syndrome' SubClassOf 'syndromic aniridia' http://purl.obolibrary.org/obo/MONDO_0010771 histiocytoid cardiomyopathy 'histiocytoid cardiomyopathy' SubClassOf 'genetic cardiac rhythm disease' 'histiocytoid cardiomyopathy' SubClassOf 'familial dilated cardiomyopathy' 'histiocytoid cardiomyopathy' SubClassOf 'inborn mitochondrial metabolism disorder' http://purl.obolibrary.org/obo/MONDO_0010773 myopathy and diabetes mellitus 'myopathy and diabetes mellitus' SubClassOf 'inborn mitochondrial myopathy' 'myopathy and diabetes mellitus' SubClassOf 'muscular lipidosis' 'myopathy and diabetes mellitus' SubClassOf 'has modifier' some 'rare' 'myopathy and diabetes mellitus' SubClassOf 'maternally-inherited mitochondrial myopathy' 'myopathy and diabetes mellitus' SubClassOf 'diabetes mellitus' http://purl.obolibrary.org/obo/MONDO_0019107 Rh deficiency syndrome 'Rh deficiency syndrome' SubClassOf 'hereditary stomatocytosis' 'Rh deficiency syndrome' SubClassOf 'familial hemolytic anemia' http://purl.obolibrary.org/obo/MONDO_0019102 dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome 'dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0019101 retinal capillary malformation 'retinal capillary malformation' SubClassOf 'hereditary disorder of connective tissue' 'retinal capillary malformation' SubClassOf 'congenital vitreoretinal dysplasia' 'retinal capillary malformation' SubClassOf 'Retinal Neoplasm' 'retinal capillary malformation' SubClassOf 'neurovascular malformation' 'retinal capillary malformation' SubClassOf 'connective tissue neoplasm' 'retinal capillary malformation' SubClassOf 'vascular neoplasm' 'retinal capillary malformation' SubClassOf 'genetic central nervous system and retinal vascular disease' http://purl.obolibrary.org/obo/MONDO_0022770 circumscribed cutaneous aplasia of the vertex 'circumscribed cutaneous aplasia of the vertex' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010788 Leber hereditary optic neuropathy 'Leber hereditary optic neuropathy' SubClassOf 'familial dilated cardiomyopathy' 'Leber hereditary optic neuropathy' SubClassOf 'eye degenerative disorder' 'Leber hereditary optic neuropathy' SubClassOf 'mitochondrial oxidative phosphorylation disorder' 'Leber hereditary optic neuropathy' SubClassOf 'hereditary optic atrophy' 'Leber hereditary optic neuropathy' SubClassOf 'hereditary optic neuropathy' http://purl.obolibrary.org/obo/MONDO_0009798 intellectual disability-cataracts-calcified pinnae-myopathy syndrome 'intellectual disability-cataracts-calcified pinnae-myopathy syndrome' SubClassOf 'genetic nervous system disorder' 'intellectual disability-cataracts-calcified pinnae-myopathy syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010787 Kearns-Sayre syndrome 'Kearns-Sayre syndrome' SubClassOf 'neuro-ophthalmological disease' 'Kearns-Sayre syndrome' SubClassOf 'familial dilated cardiomyopathy' 'Kearns-Sayre syndrome' SubClassOf 'syndromic retinitis pigmentosa' 'Kearns-Sayre syndrome' SubClassOf 'syndromic genetic hearing loss' 'Kearns-Sayre syndrome' SubClassOf 'mitochondrial oxidative phosphorylation disorder' 'Kearns-Sayre syndrome' SubClassOf 'genetic peripheral neuropathy' 'Kearns-Sayre syndrome' SubClassOf 'neurometabolic disease' 'Kearns-Sayre syndrome' SubClassOf 'progressive external ophthalmoplegia' http://purl.obolibrary.org/obo/MONDO_0007134 Cooks syndrome 'Cooks syndrome' SubClassOf 'syndromic nail anomaly' 'Cooks syndrome' SubClassOf 'congenital limb malformation' http://purl.obolibrary.org/obo/MONDO_0020112 vitamin B12- and folate-independent constitutional megaloblastic anemia 'vitamin B12- and folate-independent constitutional megaloblastic anemia' SubClassOf 'megaloblastic anemia' 'vitamin B12- and folate-independent constitutional megaloblastic anemia' SubClassOf 'inherited deficiency anemia' http://purl.obolibrary.org/obo/MONDO_0009797 orotic aciduria 'orotic aciduria' SubClassOf 'vitamin B12- and folate-independent constitutional megaloblastic anemia' 'orotic aciduria' SubClassOf 'inborn disorder of pyrimidine metabolism' http://purl.obolibrary.org/obo/MONDO_0009796 ornithine aminotransferase deficiency 'ornithine aminotransferase deficiency' SubClassOf 'optic choroid disorder' 'ornithine aminotransferase deficiency' SubClassOf 'neurovascular disorder' 'ornithine aminotransferase deficiency' SubClassOf 'inborn disorder of ornithine metabolism' 'ornithine aminotransferase deficiency' SubClassOf 'genetic peripheral neuropathy' 'ornithine aminotransferase deficiency' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0010789 MELAS syndrome 'MELAS syndrome' SubClassOf 'mitochondrial encephalomyopathy' 'MELAS syndrome' SubClassOf 'syndromic genetic hearing loss' 'MELAS syndrome' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0009795 orofaciodigital syndrome IX 'orofaciodigital syndrome IX' SubClassOf 'orofaciodigital syndrome' http://purl.obolibrary.org/obo/MONDO_0009794 orofaciodigital syndrome IV 'orofaciodigital syndrome IV' SubClassOf 'syndromic intellectual disability' 'orofaciodigital syndrome IV' SubClassOf 'syndromic genetic hearing loss' 'orofaciodigital syndrome IV' SubClassOf 'thoracic malformation' 'orofaciodigital syndrome IV' SubClassOf 'orofaciodigital syndrome' 'orofaciodigital syndrome IV' SubClassOf 'short rib dysplasia' http://purl.obolibrary.org/obo/MONDO_0009793 orofaciodigital syndrome III 'orofaciodigital syndrome III' SubClassOf 'syndromic genetic hearing loss' 'orofaciodigital syndrome III' SubClassOf 'orofaciodigital syndrome' 'orofaciodigital syndrome III' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007131 anonychia with flexural pigmentation 'anonychia with flexural pigmentation' SubClassOf 'ectodermal dysplasia syndrome' 'anonychia with flexural pigmentation' SubClassOf 'syndromic nail anomaly' http://purl.obolibrary.org/obo/MONDO_0009792 ichthyosis-oral and digital anomalies syndrome 'ichthyosis-oral and digital anomalies syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'ichthyosis-oral and digital anomalies syndrome' SubClassOf 'autosomal ichthyosis syndrome' http://purl.obolibrary.org/obo/MONDO_0010780 mitochondrial myopathy with reversible cytochrome C oxidase deficiency 'mitochondrial myopathy with reversible cytochrome C oxidase deficiency' SubClassOf 'inborn mitochondrial myopathy' 'mitochondrial myopathy with reversible cytochrome C oxidase deficiency' SubClassOf 'maternally-inherited mitochondrial myopathy' 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 'X-linked intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019118 inherited retinal dystrophy 'inherited retinal dystrophy' SubClassOf 'vision disorder' 'inherited retinal dystrophy' SubClassOf 'retinal degeneration' 'inherited retinal dystrophy' SubClassOf 'inherited vitreous-retinal disease' 'inherited retinal dystrophy' EquivalentTo 'retinal degeneration' and ('has modifier' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0020118 dense granule disease 'dense granule disease' SubClassOf 'syndromic constitutional thrombocytopenia' http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder 'genetic nervous system disorder' SubClassOf 'nervous system disease' 'genetic nervous system disorder' EquivalentTo 'nervous system disease' and ('has modifier' some 'inherited') 'genetic nervous system disorder' SubClassOf 'genetic disorder' 'genetic nervous system disorder' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0020117 alpha granule disease 'alpha granule disease' SubClassOf 'isolated hereditary giant platelet disorder' http://purl.obolibrary.org/obo/MONDO_0010786 chronic diarrhea with villous atrophy 'chronic diarrhea with villous atrophy' SubClassOf 'intractable diarrhea of infancy' 'chronic diarrhea with villous atrophy' SubClassOf 'mitochondrial oxidative phosphorylation disorder' 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 'mitochondrial oxidative phosphorylation disorder' 'maternally-inherited diabetes and deafness' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0020115 secondary polycythemia 'secondary polycythemia' SubClassOf 'polycythemia' http://purl.obolibrary.org/obo/MONDO_0019113 benign paroxysmal torticollis of infancy 'benign paroxysmal torticollis of infancy' SubClassOf 'paroxysmal dystonia' http://purl.obolibrary.org/obo/MONDO_0019115 obesity due to melanocortin 4 receptor deficiency 'obesity due to melanocortin 4 receptor deficiency' SubClassOf 'genetic non-syndromic obesity' http://purl.obolibrary.org/obo/MONDO_0019111 familial thrombocytosis 'familial thrombocytosis' SubClassOf 'thrombocytosis disease' 'familial thrombocytosis' SubClassOf 'inherited blood coagulation disorder' 'familial thrombocytosis' EquivalentTo 'thrombocytosis disease' and ('has modifier' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0019130 tubular renal disease-cardiomyopathy syndrome 'tubular renal disease-cardiomyopathy syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010799 deafness, aminoglycoside-induced 'deafness, aminoglycoside-induced' SubClassOf 'mitochondrial oxidative phosphorylation disorder' 'deafness, aminoglycoside-induced' SubClassOf 'postlingual non-syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0020102 hereditary stomatocytosis 'hereditary stomatocytosis' SubClassOf 'normocytic anemia' http://purl.obolibrary.org/obo/MONDO_0010798 proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome 'proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome' SubClassOf 'syndromic disease' 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 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'aortic arch anomaly-facial dysmorphism-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007142 Townes-Brocks syndrome 'Townes-Brocks syndrome' SubClassOf 'autosomal dominant disease' 'Townes-Brocks syndrome' SubClassOf 'dysostosis of genetic origin' 'Townes-Brocks syndrome' SubClassOf 'syndromic urogenital tract malformation' 'Townes-Brocks syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Townes-Brocks syndrome' SubClassOf 'syndromic genetic hearing loss' 'Townes-Brocks syndrome' SubClassOf 'branchial arch or oral-acral syndrome' 'Townes-Brocks syndrome' SubClassOf 'syndromic anorectal malformation' 'Townes-Brocks syndrome' SubClassOf 'congenital limb malformation' 'Townes-Brocks syndrome' SubClassOf 'syndromic renal or urinary tract malformation' 'Townes-Brocks syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0010790 MERRF syndrome 'MERRF syndrome' SubClassOf 'mitochondrial encephalomyopathy' 'MERRF syndrome' SubClassOf 'neurometabolic disease' 'MERRF syndrome' SubClassOf 'familial dilated cardiomyopathy' 'MERRF syndrome' SubClassOf 'progressive myoclonus epilepsy' 'MERRF syndrome' SubClassOf 'genetic peripheral neuropathy' 'MERRF syndrome' SubClassOf 'syndromic disease' 'MERRF syndrome' SubClassOf 'childhood electroclinical syndrome' 'MERRF syndrome' SubClassOf 'early myoclonic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0010792 lethal infantile mitochondrial myopathy 'lethal infantile mitochondrial myopathy' SubClassOf 'maternally-inherited mitochondrial myopathy' 'lethal infantile mitochondrial myopathy' SubClassOf 'inborn mitochondrial myopathy' 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 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0010794 NARP syndrome 'NARP syndrome' SubClassOf 'metabolic epilepsy' 'NARP syndrome' SubClassOf 'genetic peripheral neuropathy' 'NARP syndrome' SubClassOf 'neurometabolic disease' 'NARP syndrome' SubClassOf 'mitochondrial oxidative phosphorylation disorder' http://purl.obolibrary.org/obo/MONDO_0019128 mullerian aplasia 'mullerian aplasia' SubClassOf 'has modifier' some 'rare' 'mullerian aplasia' SubClassOf 'uterovaginal malformation' http://purl.obolibrary.org/obo/MONDO_0010797 Pearson syndrome 'Pearson syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0019126 intractable diarrhea of infancy 'intractable diarrhea of infancy' SubClassOf 'has modifier' some 'rare' 'intractable diarrhea of infancy' SubClassOf 'intestinal disease' http://purl.obolibrary.org/obo/MONDO_0019120 pili bifurcati 'pili bifurcati' SubClassOf 'isolated genetic hair shaft abnormality' http://purl.obolibrary.org/obo/MONDO_0019123 continuous spikes and waves during sleep 'continuous spikes and waves during sleep' SubClassOf 'Landau-Kleffner syndrome' http://purl.obolibrary.org/obo/MONDO_0019141 porokeratosis of Mibelli 'porokeratosis of Mibelli' SubClassOf 'porokeratosis' http://purl.obolibrary.org/obo/MONDO_0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome 'arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome' SubClassOf 'distal arthrogryposis' http://purl.obolibrary.org/obo/MONDO_0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome 'arthrogryposis-like hand anomaly-sensorineural deafness syndrome' SubClassOf 'syndromic genetic hearing loss' 'arthrogryposis-like hand anomaly-sensorineural deafness syndrome' SubClassOf 'congenital nervous system disorder' 'arthrogryposis-like hand anomaly-sensorineural deafness syndrome' SubClassOf 'distal arthrogryposis' http://purl.obolibrary.org/obo/MONDO_0020135 pontocerebellar hypoplasia 'pontocerebellar hypoplasia' SubClassOf 'genetic nervous system disorder' 'pontocerebellar hypoplasia' SubClassOf 'posterior fossa malformation' http://purl.obolibrary.org/obo/MONDO_0020133 posterior fossa malformation 'posterior fossa malformation' SubClassOf 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0007154 arteriovenous malformations of the brain 'arteriovenous malformations of the brain' SubClassOf 'nervous system benign neoplasm' 'arteriovenous malformations of the brain' SubClassOf 'arteriovenous hemangioma/malformation' 'arteriovenous malformations of the brain' SubClassOf 'neurovascular malformation' 'arteriovenous malformations of the brain' SubClassOf 'genetic vascular anomaly' 'arteriovenous malformations of the brain' SubClassOf 'genetic central nervous system and retinal vascular disease' http://purl.obolibrary.org/obo/MONDO_0020132 cranial nerve and nuclear aplasia 'cranial nerve and nuclear aplasia' SubClassOf 'genetic nervous system disorder' 'cranial nerve and nuclear aplasia' SubClassOf 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0007160 Stickler syndrome type 1 'Stickler syndrome type 1' SubClassOf 'hereditary disorder of connective tissue' 'Stickler syndrome type 1' SubClassOf 'Stickler syndrome' 'Stickler syndrome type 1' SubClassOf 'type 2 collagenopathy' http://purl.obolibrary.org/obo/MONDO_0019138 bleeding diathesis due to a collagen receptor defect 'bleeding diathesis due to a collagen receptor defect' SubClassOf 'inherited blood coagulation disorder' 'bleeding diathesis due to a collagen receptor defect' SubClassOf 'inherited bleeding disorder, platelet-type' http://purl.obolibrary.org/obo/MONDO_0019132 spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome 'spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome' SubClassOf 'bulbospinal muscular atrophy' 'spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome' SubClassOf 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0019131 ossification anomalies-psychomotor developmental delay syndrome 'ossification anomalies-psychomotor developmental delay syndrome' SubClassOf 'thoracic malformation' '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 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0019150 familial isolated restrictive cardiomyopathy 'familial isolated restrictive cardiomyopathy' SubClassOf 'familial restrictive cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0019152 Oguchi disease 'Oguchi disease' SubClassOf 'inherited retinal dystrophy' 'Oguchi disease' SubClassOf 'congenital stationary night blindness' http://purl.obolibrary.org/obo/MONDO_0019151 oligocone trichromacy 'oligocone trichromacy' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0020124 neuromuscular junction disease 'neuromuscular junction disease' SubClassOf 'neuromuscular disease' 'neuromuscular junction disease' SubClassOf 'synaptopathy' http://purl.obolibrary.org/obo/MONDO_0020123 metabolic myopathy 'metabolic myopathy' SubClassOf 'non-dystrophic myopathy' http://purl.obolibrary.org/obo/MONDO_0007167 atelosteogenesis type I 'atelosteogenesis type I' SubClassOf 'atelosteogenesis' 'atelosteogenesis type I' SubClassOf 'genetic syndromic Pierre Robin syndrome' 'atelosteogenesis type I' SubClassOf 'genetic otorhinolaryngologic disease' 'atelosteogenesis type I' SubClassOf 'filamin-related bone disorder' http://purl.obolibrary.org/obo/MONDO_0007168 atelosteogenesis type III 'atelosteogenesis type III' SubClassOf 'atelosteogenesis' 'atelosteogenesis type III' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'atelosteogenesis type III' SubClassOf 'genetic syndromic Pierre Robin syndrome' 'atelosteogenesis type III' SubClassOf 'genetic otorhinolaryngologic disease' 'atelosteogenesis type III' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'atelosteogenesis type III' SubClassOf 'genetic nervous system disorder' 'atelosteogenesis type III' SubClassOf 'syndromic intellectual disability' 'atelosteogenesis type III' SubClassOf 'congenital nervous system disorder' 'atelosteogenesis type III' SubClassOf 'filamin-related bone disorder' http://purl.obolibrary.org/obo/MONDO_0007165 spastic ataxia 7 'spastic ataxia 7' SubClassOf 'autosomal dominant spastic ataxia' http://purl.obolibrary.org/obo/MONDO_0020121 muscular dystrophy 'muscular dystrophy' SubClassOf 'myopathy' 'muscular dystrophy' SubClassOf 'skeletal muscle disorder' 'muscular dystrophy' SubClassOf 'neuromuscular disease' http://purl.obolibrary.org/obo/MONDO_0020120 skeletal muscle disorder 'skeletal muscle disorder' SubClassOf 'muscle tissue disorder' http://purl.obolibrary.org/obo/MONDO_0007163 episodic ataxia type 2 'episodic ataxia type 2' SubClassOf 'hereditary episodic ataxia' http://purl.obolibrary.org/obo/MONDO_0007164 spastic ataxia 1 'spastic ataxia 1' SubClassOf 'autosomal dominant spastic ataxia' http://purl.obolibrary.org/obo/MONDO_0007172 atrial septal defect 1 'atrial septal defect 1' SubClassOf 'atrial heart septal defect' http://purl.obolibrary.org/obo/MONDO_0007173 atrial septal defect 7 'atrial septal defect 7' SubClassOf 'atrial heart septal defect' 'atrial septal defect 7' SubClassOf 'genetic cardiac rhythm disease' http://purl.obolibrary.org/obo/MONDO_0020127 genetic peripheral neuropathy 'genetic peripheral neuropathy' EquivalentTo 'peripheral neuropathy' and ('has modifier' some 'inherited') 'genetic peripheral neuropathy' SubClassOf 'peripheral neuropathy' 'genetic peripheral neuropathy' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0019146 inherited susceptibility to mycobacterial diseases 'inherited susceptibility to mycobacterial diseases' SubClassOf 'hereditary predisposition to infections' http://purl.obolibrary.org/obo/MONDO_0019149 cholesteryl ester storage disease 'cholesteryl ester storage disease' SubClassOf 'lysosomal acid lipase deficiency' http://purl.obolibrary.org/obo/MONDO_0019148 Wolman disease 'Wolman disease' SubClassOf 'lysosomal acid lipase deficiency' http://purl.obolibrary.org/obo/MONDO_0019145 hereditary thrombophilia due to congenital protein C deficiency 'hereditary thrombophilia due to congenital protein C deficiency' SubClassOf 'avascular necrosis of genetic origin' 'hereditary thrombophilia due to congenital protein C deficiency' SubClassOf 'inherited thrombophilia' 'hereditary thrombophilia due to congenital protein C deficiency' SubClassOf 'inborn errors of metabolism' 'hereditary thrombophilia due to congenital protein C deficiency' SubClassOf 'secondary avascular necrosis' http://purl.obolibrary.org/obo/MONDO_0019144 hereditary thrombophilia due to congenital protein S deficiency 'hereditary thrombophilia due to congenital protein S deficiency' SubClassOf 'protein S deficiency' 'hereditary thrombophilia due to congenital protein S deficiency' SubClassOf 'secondary avascular necrosis' 'hereditary thrombophilia due to congenital protein S deficiency' SubClassOf 'avascular necrosis of genetic origin' 'hereditary thrombophilia due to congenital protein S deficiency' SubClassOf 'inherited thrombophilia' http://purl.obolibrary.org/obo/MONDO_0019161 pseudohypoaldosteronism type 1 'pseudohypoaldosteronism type 1' SubClassOf 'inherited renal tubular disease' 'pseudohypoaldosteronism type 1' SubClassOf 'pseudohypoaldosteronism' http://purl.obolibrary.org/obo/MONDO_0019162 pseudohypoaldosteronism type 2 'pseudohypoaldosteronism type 2' SubClassOf 'pseudohypoaldosteronism' 'pseudohypoaldosteronism type 2' SubClassOf 'genetic hypertension' http://purl.obolibrary.org/obo/MONDO_0020158 eyelids malposition disorder 'eyelids malposition disorder' SubClassOf 'has modifier' some 'rare' 'eyelids malposition disorder' SubClassOf 'eyelid disease' http://purl.obolibrary.org/obo/MONDO_0020157 syndromic palpebral coloboma 'syndromic palpebral coloboma' SubClassOf 'eyelid border anomaly' 'syndromic palpebral coloboma' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0020156 syndromic ankyloblepharon 'syndromic ankyloblepharon' SubClassOf 'eyelid border anomaly' http://purl.obolibrary.org/obo/MONDO_0020155 eyelid border anomaly 'eyelid border anomaly' SubClassOf 'eyelid disease' http://purl.obolibrary.org/obo/MONDO_0007176 helicoid peripapillary chorioretinal degeneration 'helicoid peripapillary chorioretinal degeneration' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0020154 microblepharon-ablephara syndrome 'microblepharon-ablephara syndrome' SubClassOf 'eyelid disease' http://purl.obolibrary.org/obo/MONDO_0007177 auriculoosteodysplasia 'auriculoosteodysplasia' SubClassOf 'musculoskeletal system disease' http://purl.obolibrary.org/obo/MONDO_0020153 cryptophthalmia 'cryptophthalmia' SubClassOf 'eyelid disease' http://purl.obolibrary.org/obo/MONDO_0007174 Lown-Ganong-Levine syndrome 'Lown-Ganong-Levine syndrome' SubClassOf 'genetic cardiac rhythm disease' 'Lown-Ganong-Levine syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0020159 congenital entropion 'congenital entropion' SubClassOf 'has modifier' some 'congenital' 'congenital entropion' SubClassOf 'eyelids malposition disorder' 'congenital entropion' SubClassOf 'entropion' http://purl.obolibrary.org/obo/MONDO_0019154 androgen insensitivity syndrome 'androgen insensitivity syndrome' SubClassOf 'male infertility' 'androgen insensitivity syndrome' SubClassOf '46,XY disorder of sex development of endocrine origin' 'androgen insensitivity syndrome' SubClassOf 'genetic infertility' 'androgen insensitivity syndrome' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0019153 brain malformation-congenital heart disease-postaxial polydactyly syndrome 'brain malformation-congenital heart disease-postaxial polydactyly syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'brain malformation-congenital heart disease-postaxial polydactyly syndrome' SubClassOf 'syndromic intellectual disability' 'brain malformation-congenital heart disease-postaxial polydactyly syndrome' SubClassOf 'heart disease' 'brain malformation-congenital heart disease-postaxial polydactyly syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0019156 angioosteohypotrophic syndrome 'angioosteohypotrophic syndrome' SubClassOf 'congenital vascular bone syndrome' http://purl.obolibrary.org/obo/MONDO_0019155 Leydig cell hypoplasia 'Leydig cell hypoplasia' SubClassOf 'endocrine system disease' http://purl.obolibrary.org/obo/MONDO_0019172 aniridia 'aniridia' SubClassOf 'iris disorder' 'aniridia' SubClassOf 'major induction processes eye anomaly' http://purl.obolibrary.org/obo/MONDO_0019171 familial long QT syndrome 'familial long QT syndrome' SubClassOf 'syndromic disease' 'familial long QT syndrome' SubClassOf 'disease has feature' some 'torsades de pointes' 'familial long QT syndrome' SubClassOf 'congenital heart disease' 'familial long QT syndrome' SubClassOf 'genetic cardiac rhythm disease' http://purl.obolibrary.org/obo/MONDO_0019174 obsolete infantile Refsum disease 'obsolete infantile Refsum disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020146 major induction processes eye anomaly 'major induction processes eye anomaly' SubClassOf 'developmental defect of the eye' http://purl.obolibrary.org/obo/MONDO_0020145 developmental defect of the eye 'developmental defect of the eye' SubClassOf 'developmental defect during embryogenesis' 'developmental defect of the eye' SubClassOf 'eye disease' 'developmental defect of the eye' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0020144 cerebrovascular dementia 'cerebrovascular dementia' SubClassOf 'has modifier' some 'rare' 'cerebrovascular dementia' SubClassOf 'dementia' http://purl.obolibrary.org/obo/MONDO_0007187 nevoid basal cell carcinoma syndrome 'nevoid basal cell carcinoma syndrome' SubClassOf 'disease has feature' some 'malignant tumor of palpebral epidermis' 'nevoid basal cell carcinoma syndrome' SubClassOf 'developmental defect during embryogenesis' 'nevoid basal cell carcinoma syndrome' SubClassOf 'inherited nervous system cancer-predisposing syndrome' 'nevoid basal cell carcinoma syndrome' SubClassOf 'hereditary neoplastic syndrome' 'nevoid basal cell carcinoma syndrome' SubClassOf 'neurocutaneous syndrome' 'nevoid basal cell carcinoma syndrome' SubClassOf 'autosomal dominant disease' 'nevoid basal cell carcinoma syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0007188 primary basilar invagination 'primary basilar invagination' SubClassOf 'genetic nervous system disorder' 'primary basilar invagination' SubClassOf 'disorder of medulla oblongata' http://purl.obolibrary.org/obo/MONDO_0007185 Banki syndrome 'Banki syndrome' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0007194 familial bicuspid aortic valve 'familial bicuspid aortic valve' SubClassOf 'aortic valve disease' 'familial bicuspid aortic valve' SubClassOf 'genetic cardiac anomaly' 'familial bicuspid aortic valve' SubClassOf 'aortic malformation' http://purl.obolibrary.org/obo/MONDO_0020148 syndromic aniridia 'syndromic aniridia' EquivalentTo 'aniridia' and ('has modifier' some 'has a syndromic presentation') 'syndromic aniridia' SubClassOf 'iridogoniodysgenesis' 'syndromic aniridia' SubClassOf 'aniridia' 'syndromic aniridia' SubClassOf 'syndromic cataract' http://purl.obolibrary.org/obo/MONDO_0019169 pyruvate dehydrogenase deficiency 'pyruvate dehydrogenase deficiency' SubClassOf 'pyruvate metabolism disorder' 'pyruvate dehydrogenase deficiency' SubClassOf 'genetic peripheral neuropathy' 'pyruvate dehydrogenase deficiency' SubClassOf 'inborn mitochondrial metabolism disorder' 'pyruvate dehydrogenase deficiency' SubClassOf 'cerebral organic aciduria' 'pyruvate dehydrogenase deficiency' SubClassOf 'inborn carbohydrate metabolic disorder' 'pyruvate dehydrogenase deficiency' SubClassOf 'metabolic epilepsy' http://purl.obolibrary.org/obo/MONDO_0019164 6q terminal deletion syndrome '6q terminal deletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 6' '6q terminal deletion syndrome' SubClassOf 'syndromic anorectal malformation' http://purl.obolibrary.org/obo/MONDO_0019182 inherited obesity 'inherited obesity' EquivalentTo 'obesity' and ('has modifier' some 'inherited') 'inherited obesity' SubClassOf 'has modifier' some 'rare' 'inherited obesity' SubClassOf 'endocrine system disease' 'inherited obesity' SubClassOf 'obesity' 'inherited obesity' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0019181 non-syndromic X-linked intellectual disability 'non-syndromic X-linked intellectual disability' SubClassOf 'non-syndromic intellectual disability' 'non-syndromic X-linked intellectual disability' SubClassOf 'X-linked intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019180 hereditary hemorrhagic telangiectasia 'hereditary hemorrhagic telangiectasia' SubClassOf 'genetic central nervous system and retinal vascular disease' 'hereditary hemorrhagic telangiectasia' SubClassOf 'capillary malformation' 'hereditary hemorrhagic telangiectasia' SubClassOf 'skin vascular disease' 'hereditary hemorrhagic telangiectasia' SubClassOf 'neurovascular malformation' 'hereditary hemorrhagic telangiectasia' SubClassOf 'genetic vascular anomaly' 'hereditary hemorrhagic telangiectasia' SubClassOf 'telangiectasis' 'hereditary hemorrhagic telangiectasia' SubClassOf 'genetic skin disease' 'hereditary hemorrhagic telangiectasia' SubClassOf 'developmental defect during embryogenesis' 'hereditary hemorrhagic telangiectasia' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0020179 palpebral nevus 'palpebral nevus' SubClassOf 'pigmented palpebral tumor' 'palpebral nevus' SubClassOf 'melanocytic nevus' 'palpebral nevus' SubClassOf 'benign tumor of palpebral epidermis' http://purl.obolibrary.org/obo/MONDO_0020178 palpebral lentiginosis 'palpebral lentiginosis' SubClassOf 'lentigo' 'palpebral lentiginosis' SubClassOf 'pigmented palpebral tumor' 'palpebral lentiginosis' SubClassOf 'palpebral epidermal tumor' 'palpebral lentiginosis' SubClassOf 'inherited skin tumor' http://purl.obolibrary.org/obo/MONDO_0020177 pigmented palpebral tumor 'pigmented palpebral tumor' SubClassOf 'eyelid neoplasm' http://purl.obolibrary.org/obo/MONDO_0007198 Ascher syndrome 'Ascher syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0020176 palpebral sebaceous gland tumor 'palpebral sebaceous gland tumor' SubClassOf 'sebaceous gland neoplasm' 'palpebral sebaceous gland tumor' SubClassOf 'eyelid neoplasm' http://purl.obolibrary.org/obo/MONDO_0020175 malignant tumor of palpebral epidermis 'malignant tumor of palpebral epidermis' SubClassOf 'palpebral epidermal tumor' 'malignant tumor of palpebral epidermis' SubClassOf 'eyelid cancer' http://purl.obolibrary.org/obo/MONDO_0020174 precancerous lesion of palpebral epidermis 'precancerous lesion of palpebral epidermis' SubClassOf 'precancerous condition' 'precancerous lesion of palpebral epidermis' SubClassOf 'palpebral epidermal tumor' http://purl.obolibrary.org/obo/MONDO_0007197 bladder diverticulum 'bladder diverticulum' SubClassOf 'genetic disorder' 'bladder diverticulum' SubClassOf 'bladder disease' http://purl.obolibrary.org/obo/MONDO_0019179 monosomy 9q22.3 'monosomy 9q22.3' SubClassOf 'partial monosomy of the long arm of chromosome 9' http://purl.obolibrary.org/obo/MONDO_0019176 trichorhinophalangeal syndrome type I or III 'trichorhinophalangeal syndrome type II' DisjointWith 'trichorhinophalangeal syndrome type I or III' 'trichorhinophalangeal syndrome type I or III' EquivalentTo 'trichorhinophalangeal syndrome type I' or 'trichorhinophalangeal syndrome, type III' 'trichorhinophalangeal syndrome type I or III' SubClassOf 'trichorhinophalangeal syndrome' 'trichorhinophalangeal syndrome type I or III' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0019175 primary lymphedema 'primary lymphedema' SubClassOf 'simple vascular malformation' 'primary lymphedema' SubClassOf 'lymphedema' http://purl.obolibrary.org/obo/MONDO_0019178 auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome 'auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome' SubClassOf 'orofacial clefting syndrome' 'auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019177 odontoleukodystrophy 'odontoleukodystrophy' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0020161 congenital ectropion 'congenital ectropion' SubClassOf 'ectropion' 'congenital ectropion' SubClassOf 'eyelids malposition disorder' 'congenital ectropion' SubClassOf 'has modifier' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0020160 secondary entropion 'secondary entropion' SubClassOf 'congenital entropion' http://purl.obolibrary.org/obo/MONDO_0019195 hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome 'hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome' SubClassOf 'myopathy, proximal, and ophthalmoplegia' 'hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome' SubClassOf 'inclusion myopathy' http://purl.obolibrary.org/obo/MONDO_0019190 juvenile polyposis of infancy 'juvenile polyposis of infancy' SubClassOf 'juvenile polyposis syndrome' http://purl.obolibrary.org/obo/MONDO_0019192 AKT2-related familial partial lipodystrophy 'AKT2-related familial partial lipodystrophy' SubClassOf 'familial partial lipodystrophy' http://purl.obolibrary.org/obo/MONDO_0020167 malposition of external canthus 'malposition of external canthus' SubClassOf 'canthal anomaly' http://purl.obolibrary.org/obo/MONDO_0020165 syndromic epicanthus 'syndromic epicanthus' SubClassOf 'syndromic disease' 'syndromic epicanthus' SubClassOf 'epicanthal fold' http://purl.obolibrary.org/obo/MONDO_0020164 epicanthal fold 'epicanthal fold' SubClassOf 'canthal anomaly' http://purl.obolibrary.org/obo/MONDO_0020163 canthal anomaly 'canthal anomaly' SubClassOf 'eyelid disease' 'canthal anomaly' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0020162 secondary ectropion 'secondary ectropion' SubClassOf 'eyelids malposition disorder' http://purl.obolibrary.org/obo/MONDO_0019187 Axenfeld-Rieger syndrome 'Axenfeld-Rieger syndrome' SubClassOf 'neurocristopathy' 'Axenfeld-Rieger syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Axenfeld-Rieger syndrome' SubClassOf 'syndromic anorectal malformation' 'Axenfeld-Rieger syndrome' SubClassOf 'non-acquired combined pituitary hormone deficiency' 'Axenfeld-Rieger syndrome' SubClassOf 'iridogoniodysgenesis' http://purl.obolibrary.org/obo/MONDO_0019189 inborn disorder of amino acid and other organic acid metabolism 'inborn disorder of amino acid and other organic acid metabolism' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0019188 Rubinstein-Taybi syndrome 'Rubinstein-Taybi syndrome' SubClassOf 'syndromic renal or urinary tract malformation' 'Rubinstein-Taybi syndrome' SubClassOf 'congenital nervous system disorder' 'Rubinstein-Taybi syndrome' SubClassOf 'syndromic intellectual disability' 'Rubinstein-Taybi syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Rubinstein-Taybi syndrome' SubClassOf 'syndromic urogenital tract malformation' 'Rubinstein-Taybi syndrome' SubClassOf 'syndromic genetic obesity' 'Rubinstein-Taybi syndrome' SubClassOf 'dysostosis of genetic origin' 'Rubinstein-Taybi syndrome' SubClassOf 'lens shape anomaly' 'Rubinstein-Taybi syndrome' SubClassOf 'inherited nervous system cancer-predisposing syndrome' 'Rubinstein-Taybi syndrome' SubClassOf 'congenital limb malformation' 'Rubinstein-Taybi syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Rubinstein-Taybi syndrome' SubClassOf 'intellectual disability, autosomal dominant' http://purl.obolibrary.org/obo/MONDO_0020194 congenital alacrima 'congenital alacrima' SubClassOf 'has modifier' some 'congenital' 'congenital alacrima' SubClassOf 'secretory apparatus of the lacrimal system anomaly' http://purl.obolibrary.org/obo/MONDO_0020193 secretory apparatus of the lacrimal system anomaly 'secretory apparatus of the lacrimal system anomaly' SubClassOf 'has modifier' some 'rare' 'secretory apparatus of the lacrimal system anomaly' SubClassOf 'lacrimal apparatus disease' http://purl.obolibrary.org/obo/MONDO_0020197 EEC syndrome and related syndrome 'EEC syndrome and related syndrome' SubClassOf 'anomaly of the secretory and excretory apparatus of the lacrimal system' 'EEC syndrome and related syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0020196 anomaly of the secretory and excretory apparatus of the lacrimal system 'anomaly of the secretory and excretory apparatus of the lacrimal system' SubClassOf 'has modifier' some 'rare' 'anomaly of the secretory and excretory apparatus of the lacrimal system' SubClassOf 'lacrimal apparatus disease' http://purl.obolibrary.org/obo/MONDO_0020195 excretory apparatus of the lacrimal system anomaly 'excretory apparatus of the lacrimal system anomaly' SubClassOf 'has modifier' some 'rare' 'excretory apparatus of the lacrimal system anomaly' SubClassOf 'lacrimal apparatus disease' http://purl.obolibrary.org/obo/MONDO_0019197 folinic acid-responsive seizures 'folinic acid-responsive seizures' SubClassOf 'metabolic disease involving other neurotransmitter deficiency' 'folinic acid-responsive seizures' SubClassOf 'neurometabolic disease' 'folinic acid-responsive seizures' SubClassOf 'metabolic epilepsy' http://purl.obolibrary.org/obo/MONDO_0020183 neurogenic palpebral tumor 'neurogenic palpebral tumor' SubClassOf 'eyelid neoplasm' http://purl.obolibrary.org/obo/MONDO_0020181 mesenchymatous palpebral tumor 'mesenchymatous palpebral tumor' SubClassOf 'eyelid neoplasm' http://purl.obolibrary.org/obo/MONDO_0020180 palpebral piliary tumor 'palpebral piliary tumor' SubClassOf 'eyelid neoplasm' http://purl.obolibrary.org/obo/MONDO_0009609 methylcobalamin deficiency type cblG 'methylcobalamin deficiency type cblG' SubClassOf 'homocystinuria without methylmalonic aciduria' 'methylcobalamin deficiency type cblG' SubClassOf 'thrombotic microangiopathy' 'methylcobalamin deficiency type cblG' SubClassOf 'inherited blood coagulation disorder' http://purl.obolibrary.org/obo/MONDO_0009607 methionine adenosyltransferase deficiency 'methionine adenosyltransferase deficiency' SubClassOf 'inborn disorder of methionine cycle and sulfur amino acid metabolism' 'methionine adenosyltransferase deficiency' SubClassOf 'cerebral organic aciduria' 'methionine adenosyltransferase deficiency' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency '3-hydroxyisobutyryl-CoA hydrolase deficiency' SubClassOf 'neurometabolic disease' '3-hydroxyisobutyryl-CoA hydrolase deficiency' SubClassOf 'cerebral organic aciduria' '3-hydroxyisobutyryl-CoA hydrolase deficiency' SubClassOf 'inherited amino acid metabolic disorder' '3-hydroxyisobutyryl-CoA hydrolase deficiency' SubClassOf 'valine metabolism disease' '3-hydroxyisobutyryl-CoA hydrolase deficiency' SubClassOf 'classic organic aciduria' http://purl.obolibrary.org/obo/MONDO_0009618 microcephaly-cardiomyopathy syndrome 'microcephaly-cardiomyopathy syndrome' SubClassOf 'congenital nervous system disorder' 'microcephaly-cardiomyopathy syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'microcephaly-cardiomyopathy syndrome' SubClassOf 'genetic nervous system disorder' 'microcephaly-cardiomyopathy syndrome' SubClassOf 'syndromic intellectual disability' 'microcephaly-cardiomyopathy syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0009617 microcephaly 1, primary, autosomal recessive 'microcephaly 1, primary, autosomal recessive' SubClassOf 'autosomal recessive primary microcephaly' http://purl.obolibrary.org/obo/MONDO_0009616 microcephalic primordial dwarfism, Toriello type 'microcephalic primordial dwarfism, Toriello type' SubClassOf 'microcephalic primordial dwarfism' http://purl.obolibrary.org/obo/MONDO_0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency 'methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency' SubClassOf 'methylmalonic acidemia' http://purl.obolibrary.org/obo/MONDO_0009614 vitamin B12-responsive methylmalonic acidemia type cblB 'vitamin B12-responsive methylmalonic acidemia type cblB' SubClassOf 'vitamin B12-responsive methylmalonic acidemia' http://purl.obolibrary.org/obo/MONDO_0009613 vitamin B12-responsive methylmalonic acidemia type cblA 'vitamin B12-responsive methylmalonic acidemia type cblA' SubClassOf 'vitamin B12-responsive methylmalonic acidemia' http://purl.obolibrary.org/obo/MONDO_0009611 3-methylglutaconic aciduria type 4 '3-methylglutaconic aciduria type 4' SubClassOf '3-methylglutaconic aciduria' http://purl.obolibrary.org/obo/MONDO_0009610 3-methylglutaconic aciduria type 1 '3-methylglutaconic aciduria type 1' SubClassOf '3-methylglutaconic aciduria' http://purl.obolibrary.org/obo/MONDO_0010602 hemophilia A 'hemophilia A' SubClassOf 'hemophilia' 'hemophilia A' SubClassOf 'hemorrhagic disease' 'hemophilia A' SubClassOf 'inherited blood coagulation disorder' 'hemophilia A' SubClassOf 'X-linked disease' http://purl.obolibrary.org/obo/MONDO_0010604 hemophilia B 'hemophilia B' SubClassOf 'inherited blood coagulation disorder' 'hemophilia B' SubClassOf 'hemorrhagic disease' 'hemophilia B' SubClassOf 'hemophilia' http://purl.obolibrary.org/obo/MONDO_0010619 X-linked dominant hypophosphatemic rickets 'X-linked dominant hypophosphatemic rickets' SubClassOf 'X-linked dominant disease' 'X-linked dominant hypophosphatemic rickets' SubClassOf 'X-linked hypophosphatemic rickets' http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome 'Galloway-Mowat syndrome' SubClassOf 'genetic nervous system disorder' 'Galloway-Mowat syndrome' SubClassOf 'autosomal recessive disease' 'Galloway-Mowat syndrome' SubClassOf 'primary glomerular disease' 'Galloway-Mowat syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009626 pseudo-TORCH syndrome 'pseudo-TORCH syndrome' SubClassOf 'autosomal recessive disease' 'pseudo-TORCH syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0009624 microcephaly and chorioretinopathy 1 'microcephaly and chorioretinopathy 1' SubClassOf 'neuro-ophthalmological disease' 'microcephaly and chorioretinopathy 1' SubClassOf 'disease has feature' some 'inherited retinal dystrophy' 'microcephaly and chorioretinopathy 1' SubClassOf 'syndromic disease' 'microcephaly and chorioretinopathy 1' SubClassOf 'inherited retinal dystrophy' 'microcephaly and chorioretinopathy 1' SubClassOf 'microcephaly and chorioretinopathy' http://purl.obolibrary.org/obo/MONDO_0009623 Nijmegen breakage syndrome 'Nijmegen breakage syndrome' SubClassOf 'DNA repair deficiency' 'Nijmegen breakage syndrome' SubClassOf 'autosomal recessive disease' 'Nijmegen breakage syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Nijmegen breakage syndrome' SubClassOf 'developmental anomaly of metabolic origin' http://purl.obolibrary.org/obo/MONDO_0010612 hydrocephaly-cerebellar agenesis syndrome 'hydrocephaly-cerebellar agenesis syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009622 Jawad syndrome 'Jawad syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Jawad syndrome' SubClassOf 'congenital nervous system disorder' 'Jawad syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Jawad syndrome' SubClassOf 'genetic nervous system disorder' 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 'congenital hydrocephalus' 'X-linked hydrocephalus with stenosis of the aqueduct of Sylvius' SubClassOf 'L1 syndrome' 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 'genetic nervous system disorder' 'microcephaly-cervical spine fusion anomalies syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'microcephaly-cervical spine fusion anomalies syndrome' SubClassOf 'syndromic intellectual disability' 'microcephaly-cervical spine fusion anomalies syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0010614 X-linked congenital generalized hypertrichosis 'X-linked congenital generalized hypertrichosis' SubClassOf 'hypertrichosis lanuginosa congenita' 'X-linked congenital generalized hypertrichosis' SubClassOf 'has modifier' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0009620 Say-Barber-Miller syndrome 'Say-Barber-Miller syndrome' SubClassOf 'syndromic intellectual disability' 'Say-Barber-Miller syndrome' SubClassOf 'immunodeficiency predominantly affecting antibody production' 'Say-Barber-Miller syndrome' SubClassOf 'genetic nervous system disorder' 'Say-Barber-Miller syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Say-Barber-Miller syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Say-Barber-Miller syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0010613 inborn glycerol kinase deficiency 'inborn glycerol kinase deficiency' SubClassOf 'inborn disorder of glycerol metabolism' http://purl.obolibrary.org/obo/MONDO_0010615 isolated growth hormone deficiency type III 'isolated growth hormone deficiency type III' SubClassOf 'isolated congenital growth hormone deficiency' http://purl.obolibrary.org/obo/MONDO_0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland 'familial isolated hypoparathyroidism due to agenesis of parathyroid gland' SubClassOf 'hypoparathyroidism, familial isolated 1' http://purl.obolibrary.org/obo/MONDO_0010617 male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome 'male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '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_0009637 inborn mitochondrial myopathy 'inborn mitochondrial myopathy' SubClassOf 'congenital structural myopathy' 'inborn mitochondrial myopathy' SubClassOf 'inborn mitochondrial metabolism disorder' 'inborn mitochondrial myopathy' EquivalentTo 'inborn mitochondrial metabolism disorder' and 'myopathy' http://purl.obolibrary.org/obo/MONDO_0009636 mitochondrial DNA depletion syndrome 3 'mitochondrial DNA depletion syndrome 3' SubClassOf 'mitochondrial DNA depletion syndrome, hepatocerebral form' 'mitochondrial DNA depletion syndrome 3' SubClassOf 'inborn disorder of purine metabolism' http://purl.obolibrary.org/obo/MONDO_0009635 microvillus inclusion disease 'microvillus inclusion disease' SubClassOf 'congenital secretory diarrhea' 'microvillus inclusion disease' SubClassOf 'intractable diarrhea of infancy' 'microvillus inclusion disease' SubClassOf 'congenital enteropathy involving intestinal mucosa development' http://purl.obolibrary.org/obo/MONDO_0010622 recessive X-linked ichthyosis 'recessive X-linked ichthyosis' SubClassOf 'inherited ichthyosis' 'recessive X-linked ichthyosis' SubClassOf 'X-linked recessive disease' 'recessive X-linked ichthyosis' SubClassOf 'sterol metabolism disorder' http://purl.obolibrary.org/obo/MONDO_0010627 X-linked lymphoproliferative syndrome 'X-linked lymphoproliferative syndrome' SubClassOf 'genetic hemophagocytic lymphohistiocytosis' 'X-linked lymphoproliferative syndrome' SubClassOf 'X-linked disease' 'X-linked lymphoproliferative syndrome' SubClassOf 'lymphoproliferative syndrome' 'X-linked lymphoproliferative syndrome' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0010626 hyper-IgM syndrome type 1 'hyper-IgM syndrome type 1' SubClassOf 'X-linked disease' 'hyper-IgM syndrome type 1' SubClassOf 'hyper-IgM syndrome with susceptibility to opportunistic infections' http://purl.obolibrary.org/obo/MONDO_0010621 CHILD syndrome 'CHILD syndrome' SubClassOf 'syndromic dyslipidemia' 'CHILD syndrome' SubClassOf 'melanocytic nevus' 'CHILD syndrome' SubClassOf 'X-linked chondrodysplasia punctata' 'CHILD syndrome' SubClassOf 'bone benign neoplasm' 'CHILD syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'CHILD syndrome' SubClassOf 'hereditary disorder of connective tissue' 'CHILD syndrome' SubClassOf 'inherited skin tumor' 'CHILD syndrome' SubClassOf 'X-linked ichthyosis syndrome' http://purl.obolibrary.org/obo/MONDO_0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B 'sulfite oxidase deficiency due to molybdenum cofactor deficiency type B' SubClassOf 'sulfite oxidase deficiency due to molybdenum cofactor deficiency' http://purl.obolibrary.org/obo/MONDO_0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 'sulfite oxidase deficiency due to molybdenum cofactor deficiency type A' SubClassOf 'sulfite oxidase deficiency due to molybdenum cofactor deficiency' http://purl.obolibrary.org/obo/MONDO_0009642 orofaciodigital syndrome type II 'orofaciodigital syndrome type II' SubClassOf 'orofaciodigital syndrome' 'orofaciodigital syndrome type II' SubClassOf 'syndromic genetic hearing loss' 'orofaciodigital syndrome type II' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010638 keratosis follicularis-dwarfism-cerebral atrophy syndrome 'keratosis follicularis-dwarfism-cerebral atrophy syndrome' SubClassOf 'epidermal disease' 'keratosis follicularis-dwarfism-cerebral atrophy syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'keratosis follicularis-dwarfism-cerebral atrophy syndrome' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0010639 laryngeal abductor paralysis-intellectual disability syndrome 'laryngeal abductor paralysis-intellectual disability syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'laryngeal abductor paralysis-intellectual disability syndrome' SubClassOf 'respiratory system disease' http://purl.obolibrary.org/obo/MONDO_0010631 incontinentia pigmenti 'incontinentia pigmenti' SubClassOf 'ectodermal dysplasia syndrome' 'incontinentia pigmenti' SubClassOf 'pigmentation disease' 'incontinentia pigmenti' SubClassOf 'congenital vitreoretinal dysplasia' 'incontinentia pigmenti' SubClassOf 'syndromic cataract' http://purl.obolibrary.org/obo/MONDO_0009659 mucopolysaccharidosis type 4A 'mucopolysaccharidosis type 4A' SubClassOf 'mucopolysaccharidosis type 4' http://purl.obolibrary.org/obo/MONDO_0009658 Sanfilippo syndrome type D 'Sanfilippo syndrome type D' SubClassOf 'mucopolysaccharidosis type 3' http://purl.obolibrary.org/obo/MONDO_0009657 Sanfilippo syndrome type C 'Sanfilippo syndrome type C' SubClassOf 'mucopolysaccharidosis type 3' http://purl.obolibrary.org/obo/MONDO_0009656 Sanfilippo syndrome type B 'Sanfilippo syndrome type B' SubClassOf 'mucopolysaccharidosis type 3' http://purl.obolibrary.org/obo/MONDO_0010645 oculocerebrorenal syndrome 'oculocerebrorenal syndrome' SubClassOf 'syndromic disease' 'oculocerebrorenal syndrome' SubClassOf 'inborn disorder of amino acid absorption and transport' 'oculocerebrorenal syndrome' SubClassOf 'eye disease' 'oculocerebrorenal syndrome' SubClassOf 'inherited renal tubular disease' http://purl.obolibrary.org/obo/MONDO_0009655 Sanfilippo syndrome type A 'Sanfilippo syndrome type A' SubClassOf 'mucopolysaccharidosis type 3' http://purl.obolibrary.org/obo/MONDO_0009653 mucolipidosis type IV 'mucolipidosis type IV' SubClassOf 'has modifier' some 'rare' 'mucolipidosis type IV' SubClassOf 'eye disease' 'mucolipidosis type IV' SubClassOf 'mucolipidosis' http://purl.obolibrary.org/obo/MONDO_0010649 isolated congenital megalocornea 'isolated congenital megalocornea' SubClassOf 'corneogoniodysgenesis' 'isolated congenital megalocornea' SubClassOf 'has modifier' some 'congenital' 'isolated congenital megalocornea' SubClassOf 'megalocornea' http://purl.obolibrary.org/obo/MONDO_0009650 mucolipidosis type II 'mucolipidosis type II' SubClassOf 'has modifier' some 'rare' 'mucolipidosis type II' SubClassOf 'bone disease' 'mucolipidosis type II' SubClassOf 'mucolipidosis' http://purl.obolibrary.org/obo/MONDO_0010641 X-linked diffuse leiomyomatosis-Alport syndrome 'X-linked diffuse leiomyomatosis-Alport syndrome' SubClassOf 'partial deletion of the long arm of chromosome X' 'X-linked diffuse leiomyomatosis-Alport syndrome' SubClassOf 'disease of glomerular basement membrane' http://purl.obolibrary.org/obo/MONDO_0009669 spinal muscular atrophy, type 1 'spinal muscular atrophy, type 1' SubClassOf 'proximal spinal muscular atrophy' http://purl.obolibrary.org/obo/MONDO_0009668 lethal multiple pterygium syndrome 'lethal multiple pterygium syndrome' SubClassOf 'syndromic disease' 'lethal multiple pterygium syndrome' SubClassOf 'multiple pterygium syndrome' 'lethal multiple pterygium syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009666 holocarboxylase synthetase deficiency 'holocarboxylase synthetase deficiency' SubClassOf 'inborn disorder of branched-chain amino acid metabolism' 'holocarboxylase synthetase deficiency' SubClassOf 'cerebral organic aciduria' 'holocarboxylase synthetase deficiency' SubClassOf 'metabolic epilepsy' 'holocarboxylase synthetase deficiency' SubClassOf 'multiple carboxylase deficiency' http://purl.obolibrary.org/obo/MONDO_0010655 X-linked intellectual disability with marfanoid habitus 'X-linked intellectual disability with marfanoid habitus' SubClassOf 'congenital nervous system disorder' 'X-linked intellectual disability with marfanoid habitus' SubClassOf 'MED12-related intellectual disability syndrome' 'X-linked intellectual disability with marfanoid habitus' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'X-linked intellectual disability with marfanoid habitus' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009665 biotinidase deficiency 'biotinidase deficiency' SubClassOf 'metabolic epilepsy' 'biotinidase deficiency' SubClassOf 'cerebral organic aciduria' 'biotinidase deficiency' SubClassOf 'disorder of other vitamins and cofactors metabolism and transport' 'biotinidase deficiency' SubClassOf 'multiple carboxylase deficiency' 'biotinidase deficiency' SubClassOf 'genetic peripheral neuropathy' 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' http://purl.obolibrary.org/obo/MONDO_0009664 mulibrey nanism 'mulibrey nanism' SubClassOf 'disorder of development or morphogenesis' 'mulibrey nanism' SubClassOf 'syndromic disease' 'mulibrey nanism' SubClassOf 'autosomal recessive disease' 'mulibrey nanism' SubClassOf 'disorder of defective peroxisome oxidative status' http://purl.obolibrary.org/obo/MONDO_0010657 methylmalonic acidemia with homocystinuria, type cblX 'methylmalonic acidemia with homocystinuria, type cblX' SubClassOf 'cerebral organic aciduria' 'methylmalonic acidemia with homocystinuria, type cblX' SubClassOf 'methylmalonic aciduria and homocystinuria' 'methylmalonic acidemia with homocystinuria, type cblX' SubClassOf 'non-syndromic X-linked intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009662 mucopolysaccharidosis type 7 'mucopolysaccharidosis type 7' SubClassOf 'has modifier' some 'rare' 'mucopolysaccharidosis type 7' SubClassOf 'bone disease' 'mucopolysaccharidosis type 7' SubClassOf 'mucopolysaccharidosis' http://purl.obolibrary.org/obo/MONDO_0010659 FRAXE intellectual disability 'FRAXE intellectual disability' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009661 mucopolysaccharidosis type 6 'mucopolysaccharidosis type 6' SubClassOf 'bone disease' 'mucopolysaccharidosis type 6' SubClassOf 'syndromic disease' 'mucopolysaccharidosis type 6' SubClassOf 'mucopolysaccharidosis' 'mucopolysaccharidosis type 6' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009660 mucopolysaccharidosis type 4B 'mucopolysaccharidosis type 4B' SubClassOf 'mucopolysaccharidosis type 4' http://purl.obolibrary.org/obo/MONDO_0009670 lethal congenital contracture syndrome 1 'lethal congenital contracture syndrome 1' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'lethal congenital contracture syndrome 1' SubClassOf 'syndromic respiratory or mediastinal malformation' 'lethal congenital contracture syndrome 1' SubClassOf 'lethal congenital contracture syndrome' 'lethal congenital contracture syndrome 1' SubClassOf 'thoracic malformation' http://purl.obolibrary.org/obo/MONDO_0010650 Melnick-Needles syndrome 'Melnick-Needles syndrome' SubClassOf 'congenital nervous system disorder' 'Melnick-Needles syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Melnick-Needles syndrome' SubClassOf 'otopalatodigital syndrome spectrum disorder' 'Melnick-Needles syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Melnick-Needles syndrome' SubClassOf 'eye disease' 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' http://purl.obolibrary.org/obo/MONDO_0010651 Menkes disease 'Menkes disease' SubClassOf 'disorder of copper metabolism' 'Menkes disease' SubClassOf 'neurometabolic disease' 'Menkes disease' SubClassOf 'syndromic hair shaft abnormality' 'Menkes disease' SubClassOf 'inborn metal metabolism disorder' http://purl.obolibrary.org/obo/MONDO_0010654 Partington syndrome 'Partington syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Partington syndrome' SubClassOf 'ARX-related epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0010653 Renpenning syndrome 'Renpenning syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Renpenning syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Renpenning syndrome' SubClassOf 'congenital nervous system disorder' 'Renpenning syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Renpenning syndrome' SubClassOf 'syndromic anorectal malformation' http://purl.obolibrary.org/obo/MONDO_0009679 arthrogryposis due to muscular dystrophy 'arthrogryposis due to muscular dystrophy' SubClassOf 'congenital muscular dystrophy' 'arthrogryposis due to muscular dystrophy' SubClassOf 'arthrogryposis multiplex congenita' 'arthrogryposis due to muscular dystrophy' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4' SubClassOf 'muscular dystrophy-dystroglycanopathy, type A' 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4' SubClassOf 'muscle-eye-brain disease' 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4' SubClassOf 'myopathy caused by variation in FKTN' http://purl.obolibrary.org/obo/MONDO_0010667 Prieto syndrome 'Prieto syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009677 autosomal recessive limb-girdle muscular dystrophy type 2C 'autosomal recessive limb-girdle muscular dystrophy type 2C' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' 'autosomal recessive limb-girdle muscular dystrophy type 2C' SubClassOf 'qualitative or quantitative defects of gamma-sarcoglycan' 'autosomal recessive limb-girdle muscular dystrophy type 2C' SubClassOf 'familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0009676 autosomal recessive limb-girdle muscular dystrophy type 2B 'autosomal recessive limb-girdle muscular dystrophy type 2B' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' 'autosomal recessive limb-girdle muscular dystrophy type 2B' SubClassOf 'qualitative or quantitative defects of dysferlin' http://purl.obolibrary.org/obo/MONDO_0010669 syndactyly type 8 'syndactyly type 8' SubClassOf 'non-syndromic syndactyly' http://purl.obolibrary.org/obo/MONDO_0009675 autosomal recessive limb-girdle muscular dystrophy type 2A 'autosomal recessive limb-girdle muscular dystrophy type 2A' SubClassOf 'qualitative or quantitative defects of calpain' 'autosomal recessive limb-girdle muscular dystrophy type 2A' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0010668 skeletal dysplasia-intellectual disability syndrome 'skeletal dysplasia-intellectual disability syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'skeletal dysplasia-intellectual disability syndrome' SubClassOf 'spondylodysplastic dysplasia' 'skeletal dysplasia-intellectual disability syndrome' SubClassOf 'syndromic anorectal malformation' http://purl.obolibrary.org/obo/MONDO_0009673 spinal muscular atrophy, type II 'spinal muscular atrophy, type II' SubClassOf 'proximal spinal muscular atrophy' http://purl.obolibrary.org/obo/MONDO_0009672 spinal muscular atrophy, type III 'spinal muscular atrophy, type III' SubClassOf 'proximal spinal muscular atrophy' 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' 'intellectual disability-myopathy-short stature-endocrine defect syndrome' SubClassOf 'congenital myopathy' 'intellectual disability-myopathy-short stature-endocrine defect syndrome' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009680 congenital muscular dystrophy-infantile cataract-hypogonadism syndrome 'congenital muscular dystrophy-infantile cataract-hypogonadism syndrome' SubClassOf 'congenital muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0010661 severe X-linked intellectual disability, Gustavson type 'severe X-linked intellectual disability, Gustavson type' SubClassOf 'syndromic hereditary optic neuropathy' 'severe X-linked intellectual disability, Gustavson type' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010663 X-linked intellectual disability-hypotonic face syndrome 'X-linked intellectual disability-hypotonic face syndrome' SubClassOf 'ATR-X-related syndrome' http://purl.obolibrary.org/obo/MONDO_0010662 paraplegia-intellectual disability-hyperkeratosis syndrome 'paraplegia-intellectual disability-hyperkeratosis syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'paraplegia-intellectual disability-hyperkeratosis syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'paraplegia-intellectual disability-hyperkeratosis syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'paraplegia-intellectual disability-hyperkeratosis syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0010665 Wilson-Turner syndrome 'Wilson-Turner syndrome' SubClassOf 'syndromic genetic obesity' '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' http://purl.obolibrary.org/obo/MONDO_0007029 branchio-oto-renal syndrome 'branchio-oto-renal syndrome' SubClassOf 'autosomal dominant disease' 'branchio-oto-renal syndrome' SubClassOf 'congenital nervous system disorder' 'branchio-oto-renal syndrome' SubClassOf 'syndromic genetic hearing loss' 'branchio-oto-renal syndrome' SubClassOf 'syndromic urogenital tract malformation' 'branchio-oto-renal syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'branchio-oto-renal syndrome' SubClassOf 'syndromic renal or urinary tract malformation' 'branchio-oto-renal syndrome' SubClassOf 'branchial arch or oral-acral syndrome' http://purl.obolibrary.org/obo/MONDO_0010679 Duchenne muscular dystrophy 'Duchenne muscular dystrophy' SubClassOf 'neuro-ophthalmological disease' 'Duchenne muscular dystrophy' SubClassOf 'dilated cardiomyopathy 3B' 'Duchenne muscular dystrophy' SubClassOf 'Duchenne and Becker muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0009685 Miyoshi myopathy 'Miyoshi myopathy' SubClassOf 'autosomal recessive distal myopathy' http://purl.obolibrary.org/obo/MONDO_0009683 autosomal recessive limb-girdle muscular dystrophy type 2H 'autosomal recessive limb-girdle muscular dystrophy type 2H' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' 'autosomal recessive limb-girdle muscular dystrophy type 2H' SubClassOf 'qualitative or quantitative defects of TRIM32' 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' 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 'mixed dermis disorder' 'linear skin defects with multiple congenital anomalies' SubClassOf 'syndromic anorectal malformation' 'linear skin defects with multiple congenital anomalies' SubClassOf 'syndromic microphthalmia' 'linear skin defects with multiple congenital anomalies' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0019008 benign recurrent intrahepatic cholestasis 'benign recurrent intrahepatic cholestasis' SubClassOf 'familial intrahepatic cholestasis' 'benign recurrent intrahepatic cholestasis' SubClassOf 'inborn disorder of bilirubin metabolism' http://purl.obolibrary.org/obo/MONDO_0010674 mucopolysaccharidosis type 2 'mucopolysaccharidosis type 2' SubClassOf 'mucopolysaccharidosis' 'mucopolysaccharidosis type 2' SubClassOf 'neurometabolic disease' 'mucopolysaccharidosis type 2' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0019009 isolated focal cortical dysplasia 'isolated focal cortical dysplasia' SubClassOf 'overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes' 'isolated focal cortical dysplasia' SubClassOf 'cerebral cortical dysplasia' http://purl.obolibrary.org/obo/MONDO_0019003 multiple endocrine neoplasia type 2 'multiple endocrine neoplasia type 2' SubClassOf 'multiple endocrine neoplasia' 'multiple endocrine neoplasia type 2' SubClassOf 'thyroid carcinoma' 'multiple endocrine neoplasia type 2' SubClassOf 'inherited digestive cancer-predisposing syndrome' http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome 'familial idiopathic steroid-resistant nephrotic syndrome' EquivalentTo 'idiopathic nephrotic syndrome' and 'steroid-resistant nephrotic syndrome' and ('has modifier' some 'inherited') 'familial idiopathic steroid-resistant nephrotic syndrome' SubClassOf 'familial nephrotic syndrome' 'familial idiopathic steroid-resistant nephrotic syndrome' SubClassOf 'idiopathic nephrotic syndrome' 'familial idiopathic steroid-resistant nephrotic syndrome' SubClassOf 'steroid-resistant nephrotic syndrome' http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis 'nephronophthisis' SubClassOf 'autosomal recessive disease' 'nephronophthisis' SubClassOf 'inherited renal tubular disease' http://purl.obolibrary.org/obo/MONDO_0019002 Lhermitte-Duclos disease 'Lhermitte-Duclos disease' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Lhermitte-Duclos disease' SubClassOf 'genetic nervous system disorder' 'Lhermitte-Duclos disease' SubClassOf 'mixed neuronal-glial tumor' 'Lhermitte-Duclos disease' SubClassOf 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0007039 neurofibromatosis type 2 'neurofibromatosis type 2' SubClassOf 'syndromic genetic hearing loss' 'neurofibromatosis type 2' SubClassOf 'neurofibromatosis' http://purl.obolibrary.org/obo/MONDO_0007037 achondroplasia 'achondroplasia' SubClassOf 'osteochondrodysplasia' 'achondroplasia' SubClassOf 'FGFR3-related chondrodysplasia' 'achondroplasia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0010689 Charcot-Marie-Tooth disease X-linked recessive 4 'Charcot-Marie-Tooth disease X-linked recessive 4' SubClassOf 'Charcot-Marie-Tooth disease type X' http://purl.obolibrary.org/obo/MONDO_0009699 action myoclonus-renal failure syndrome 'action myoclonus-renal failure syndrome' SubClassOf 'progressive myoclonus epilepsy' 'action myoclonus-renal failure syndrome' SubClassOf 'primary glomerular disease' http://purl.obolibrary.org/obo/MONDO_0009698 Unverricht-Lundborg syndrome 'Unverricht-Lundborg syndrome' SubClassOf 'progressive myoclonus epilepsy' 'Unverricht-Lundborg syndrome' SubClassOf 'movement disorder' http://purl.obolibrary.org/obo/MONDO_0009697 Lafora disease 'Lafora disease' SubClassOf 'movement disorder' 'Lafora disease' SubClassOf 'progressive myoclonus epilepsy' http://purl.obolibrary.org/obo/MONDO_0009696 juvenile myoclonic epilepsy 'juvenile myoclonic epilepsy' SubClassOf 'adolescent/adult-onset epilepsy syndrome' 'juvenile myoclonic epilepsy' SubClassOf 'movement disorder' 'juvenile myoclonic epilepsy' SubClassOf 'childhood electroclinical syndrome' 'juvenile myoclonic epilepsy' SubClassOf 'familial partial epilepsy' 'juvenile myoclonic epilepsy' SubClassOf 'adolescence-adult electroclinical syndrome' http://purl.obolibrary.org/obo/MONDO_0007034 Adams-Oliver syndrome 'Adams-Oliver syndrome' SubClassOf 'dysostosis of genetic origin' 'Adams-Oliver syndrome' SubClassOf 'genetic skin disease' 'Adams-Oliver syndrome' SubClassOf 'congenital limb malformation' 'Adams-Oliver syndrome' SubClassOf 'mixed dermis disorder' http://purl.obolibrary.org/obo/MONDO_0007031 familial abdominal aortic aneurysm 'familial abdominal aortic aneurysm' SubClassOf 'genetic disorder' 'familial abdominal aortic aneurysm' SubClassOf 'has modifier' some 'rare' 'familial abdominal aortic aneurysm' SubClassOf 'Abdominal Aortic Aneurysm' 'familial abdominal aortic aneurysm' EquivalentTo 'Abdominal Aortic Aneurysm' and ('has modifier' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0009694 myeloperoxidase deficiency 'myeloperoxidase deficiency' SubClassOf 'functional neutrophil defect' 'myeloperoxidase deficiency' SubClassOf 'defective phagocytic cell engulfment' http://purl.obolibrary.org/obo/MONDO_0007032 prune belly syndrome 'prune belly syndrome' SubClassOf 'fetal lower urinary tract obstruction' 'prune belly syndrome' SubClassOf 'genetic disorder' 'prune belly syndrome' SubClassOf 'syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0007040 Sakati-Nyhan syndrome 'Sakati-Nyhan syndrome' SubClassOf 'acrocephalopolysyndactyly' http://purl.obolibrary.org/obo/MONDO_0007041 apert syndrome 'apert syndrome' SubClassOf 'genetic syndromic Pierre Robin syndrome' 'apert syndrome' SubClassOf 'neuro-ophthalmological disease' 'apert syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'apert syndrome' SubClassOf 'acrocephalosyndactyly' http://purl.obolibrary.org/obo/MONDO_0010680 X-linked Emery-Dreifuss muscular dystrophy 'X-linked Emery-Dreifuss muscular dystrophy' SubClassOf 'qualitative or quantitative defects of emerin' 'X-linked Emery-Dreifuss muscular dystrophy' SubClassOf 'laminopathy' 'X-linked Emery-Dreifuss muscular dystrophy' SubClassOf 'Emery-Dreifuss muscular dystrophy' 'X-linked Emery-Dreifuss muscular dystrophy' SubClassOf 'X-linked disease' http://purl.obolibrary.org/obo/MONDO_0010683 X-linked centronuclear myopathy 'X-linked centronuclear myopathy' SubClassOf 'congenital structural myopathy' 'X-linked centronuclear myopathy' SubClassOf 'qualitative or quantitative defects of myotubularin' 'X-linked centronuclear myopathy' SubClassOf 'congenital nervous system disorder' 'X-linked centronuclear myopathy' SubClassOf 'centronuclear myopathy' 'X-linked centronuclear myopathy' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019019 osteogenesis imperfecta 'osteogenesis imperfecta' SubClassOf 'osteochondrodysplasia' 'osteogenesis imperfecta' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0020019 digestive tract malformation 'digestive tract malformation' SubClassOf 'developmental defect during embryogenesis' 'digestive tract malformation' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0010684 X-linked myopathy with excessive autophagy 'X-linked myopathy with excessive autophagy' SubClassOf 'inclusion myopathy' 'X-linked myopathy with excessive autophagy' SubClassOf 'genetic nervous system disorder' 'X-linked myopathy with excessive autophagy' SubClassOf 'progressive muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0010686 N syndrome 'N syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'N syndrome' SubClassOf 'hereditary neoplastic syndrome' 'N syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'N syndrome' SubClassOf 'congenital nervous system disorder' 'N syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0019017 short fifth metacarpals-insulin resistance syndrome 'short fifth metacarpals-insulin resistance syndrome' SubClassOf 'diabetes mellitus' http://purl.obolibrary.org/obo/MONDO_0019016 maternally-inherited progressive external ophthalmoplegia 'maternally-inherited progressive external ophthalmoplegia' SubClassOf 'eyelids malposition disorder' 'maternally-inherited progressive external ophthalmoplegia' SubClassOf 'mitochondrial oxidative phosphorylation disorder' 'maternally-inherited progressive external ophthalmoplegia' SubClassOf 'inborn mitochondrial myopathy' 'maternally-inherited progressive external ophthalmoplegia' SubClassOf 'neuro-ophthalmological disease' http://purl.obolibrary.org/obo/MONDO_0019011 Charcot-Marie-Tooth disease type 1 'Charcot-Marie-Tooth disease type 1' SubClassOf 'autosomal dominant hereditary demyelinating motor and sensory neuropathy' http://purl.obolibrary.org/obo/MONDO_0019010 congenital isolated hyperinsulinism 'congenital isolated hyperinsulinism' SubClassOf 'islet cell adenomatosis' 'congenital isolated hyperinsulinism' SubClassOf 'overgrowth syndrome' 'congenital isolated hyperinsulinism' SubClassOf 'developmental anomaly of metabolic origin' 'congenital isolated hyperinsulinism' SubClassOf 'familial hyperinsulinism' http://purl.obolibrary.org/obo/MONDO_0019012 Carpenter syndrome 'Carpenter syndrome' SubClassOf 'syndromic genetic obesity' 'Carpenter syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Carpenter syndrome' SubClassOf 'acrocephalopolysyndactyly' http://purl.obolibrary.org/obo/MONDO_0019031 thrombocytopenia with congenital dyserythropoietic anemia 'thrombocytopenia with congenital dyserythropoietic anemia' SubClassOf 'GATA1-Related X-Linked Cytopenia' 'thrombocytopenia with congenital dyserythropoietic anemia' SubClassOf 'isolated hereditary giant platelet disorder' 'thrombocytopenia with congenital dyserythropoietic anemia' SubClassOf 'congenital dyserythropoietic anemia' 'thrombocytopenia with congenital dyserythropoietic anemia' SubClassOf 'thrombocytopenia, X-linked, with or without dyserythropoietic anemia' http://purl.obolibrary.org/obo/MONDO_0010699 Charcot-Marie-Tooth disease X-linked recessive 5 'Charcot-Marie-Tooth disease X-linked recessive 5' SubClassOf 'syndromic hereditary optic neuropathy' 'Charcot-Marie-Tooth disease X-linked recessive 5' SubClassOf 'developmental anomaly of metabolic origin' 'Charcot-Marie-Tooth disease X-linked recessive 5' SubClassOf 'Charcot-Marie-Tooth disease type X' 'Charcot-Marie-Tooth disease X-linked recessive 5' SubClassOf 'inborn disorder of purine metabolism' http://purl.obolibrary.org/obo/MONDO_0007045 acrofacial dysostosis, Catania type 'acrofacial dysostosis, Catania type' SubClassOf 'genetic nervous system disorder' 'acrofacial dysostosis, Catania type' SubClassOf 'acrofacial dysostosis' 'acrofacial dysostosis, Catania type' SubClassOf 'syndromic intellectual disability' 'acrofacial dysostosis, Catania type' SubClassOf 'branchial arch or oral-acral syndrome' 'acrofacial dysostosis, Catania type' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'acrofacial dysostosis, Catania type' SubClassOf 'congenital nervous system disorder' 'acrofacial dysostosis, Catania type' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007042 Saethre-Chotzen syndrome 'Saethre-Chotzen syndrome' SubClassOf 'neuro-ophthalmological disease' 'Saethre-Chotzen syndrome' SubClassOf 'acrocephalosyndactyly' 'Saethre-Chotzen syndrome' SubClassOf 'eyelids malposition disorder' http://purl.obolibrary.org/obo/MONDO_0007043 Pfeiffer syndrome 'Pfeiffer syndrome' SubClassOf 'acrocephalopolysyndactyly' 'Pfeiffer syndrome' SubClassOf 'neuro-ophthalmological disease' http://purl.obolibrary.org/obo/MONDO_0007051 acromegaloid facial appearance syndrome 'acromegaloid facial appearance syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0010691 Norrie disease 'Norrie disease' SubClassOf 'congenital vitreoretinal dysplasia' 'Norrie disease' SubClassOf 'syndromic cataract' 'Norrie disease' SubClassOf 'X-linked deafness' 'Norrie disease' SubClassOf 'X-linked syndromic intellectual disability' 'Norrie disease' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0010698 optic atrophy 2 'optic atrophy 2' SubClassOf 'eye degenerative disorder' 'optic atrophy 2' SubClassOf 'X-linked syndromic intellectual disability' 'optic atrophy 2' SubClassOf 'syndromic hereditary optic neuropathy' 'optic atrophy 2' SubClassOf 'hereditary optic atrophy' http://purl.obolibrary.org/obo/MONDO_0019026 autosomal recessive osteopetrosis 'autosomal recessive osteopetrosis' SubClassOf 'autosomal recessive disease' 'autosomal recessive osteopetrosis' SubClassOf 'osteopetrosis' 'autosomal recessive osteopetrosis' SubClassOf 'hereditary optic neuropathy' http://purl.obolibrary.org/obo/MONDO_0019027 otopalatodigital syndrome 'otopalatodigital syndrome' SubClassOf 'X-linked deafness' 'otopalatodigital syndrome' SubClassOf 'congenital nervous system disorder' 'otopalatodigital syndrome' SubClassOf 'branchial arch or oral-acral syndrome' 'otopalatodigital syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'otopalatodigital syndrome' SubClassOf 'syndromic genetic hearing loss' 'otopalatodigital syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'otopalatodigital syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'otopalatodigital syndrome' SubClassOf 'otopalatodigital syndrome spectrum disorder' http://purl.obolibrary.org/obo/MONDO_0019022 sensorineural hearing loss-early graying-essential tremor syndrome 'sensorineural hearing loss-early graying-essential tremor syndrome' SubClassOf 'movement disorder' 'sensorineural hearing loss-early graying-essential tremor syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0019040 chromosomal disorder 'chromosomal disorder' SubClassOf 'has modifier' some 'rare' 'chromosomal disorder' SubClassOf 'genetic disorder' 'chromosomal disorder' SubClassOf 'developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0007059 acrorenal syndrome 'acrorenal syndrome' SubClassOf 'syndromic renal or urinary tract malformation' 'acrorenal syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007057 acroosteolysis dominant type 'acroosteolysis dominant type' SubClassOf 'hereditary disorder of connective tissue' 'acroosteolysis dominant type' SubClassOf 'disappearing bone disease' 'acroosteolysis dominant type' SubClassOf 'autosomal dominant disease' 'acroosteolysis dominant type' SubClassOf 'acroosteolysis' 'acroosteolysis dominant type' SubClassOf 'rheumatic disease' 'acroosteolysis dominant type' SubClassOf 'syndromic urogenital tract malformation' 'acroosteolysis dominant type' SubClassOf 'syndromic renal or urinary tract malformation' http://purl.obolibrary.org/obo/MONDO_0007058 acropectorovertebral dysplasia 'acropectorovertebral dysplasia' SubClassOf 'thoracic malformation' http://purl.obolibrary.org/obo/MONDO_0007055 acromicric dysplasia 'acromicric dysplasia' SubClassOf 'acromelic dysplasia' 'acromicric dysplasia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007062 congenital absence/hypoplasia of fingers excluding thumb, unilateral 'congenital absence/hypoplasia of fingers excluding thumb, unilateral' SubClassOf 'congenital absence/hypoplasia of fingers excluding thumb' http://purl.obolibrary.org/obo/MONDO_0019037 progressive supranuclear palsy 'progressive supranuclear palsy' SubClassOf 'supranuclear oculomotor palsy' 'progressive supranuclear palsy' SubClassOf 'movement disorder' 'progressive supranuclear palsy' SubClassOf 'disease arises from feature' some 'neurodegenerative disease' 'progressive supranuclear palsy' SubClassOf 'eye degenerative disorder' 'progressive supranuclear palsy' SubClassOf 'syndromic disease' 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' http://purl.obolibrary.org/obo/MONDO_0019034 accessory pancreas 'accessory pancreas' SubClassOf 'non-syndromic visceral malformation' http://purl.obolibrary.org/obo/MONDO_0019053 peroxisomal disease 'peroxisomal disease' SubClassOf 'inborn errors of metabolism' 'peroxisomal disease' SubClassOf 'metabolic epilepsy' 'peroxisomal disease' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism 'inborn errors of metabolism' EquivalentTo 'metabolic disease' and ('has modifier' some 'inherited') 'inborn errors of metabolism' SubClassOf 'genetic disorder' 'inborn errors of metabolism' SubClassOf 'metabolic disease' http://purl.obolibrary.org/obo/MONDO_0007068 adenylosuccinate lyase deficiency 'adenylosuccinate lyase deficiency' SubClassOf 'inherited amino acid metabolic disorder' 'adenylosuccinate lyase deficiency' SubClassOf 'inborn disorder of purine metabolism' http://purl.obolibrary.org/obo/MONDO_0020023 respiratory or mediastinal malformation 'respiratory or mediastinal malformation' SubClassOf 'developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0007066 adenosine triphosphatase deficiency, anemia due to 'adenosine triphosphatase deficiency, anemia due to' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 'severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency' SubClassOf 'inborn disorder of purine metabolism' 'severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency' SubClassOf 'T-B- severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0020020 visceral malformation of the liver, biliary tract, pancreas or spleen 'visceral malformation of the liver, biliary tract, pancreas or spleen' SubClassOf 'has modifier' some 'rare' 'visceral malformation of the liver, biliary tract, pancreas or spleen' SubClassOf 'developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0007073 hypoglossia-hypodactyly syndrome 'hypoglossia-hypodactyly syndrome' SubClassOf 'oromandibular-limb hypogenesis syndrome' 'hypoglossia-hypodactyly syndrome' SubClassOf 'branchial arch or oral-acral syndrome' 'hypoglossia-hypodactyly syndrome' SubClassOf 'congenital limb malformation' 'hypoglossia-hypodactyly syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0007072 ADULT syndrome 'ADULT syndrome' SubClassOf 'dysostosis of genetic origin' 'ADULT syndrome' SubClassOf 'EEC syndrome and related syndrome' 'ADULT syndrome' SubClassOf 'congenital limb malformation' 'ADULT syndrome' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/HP_0030853 Heterotaxy 'Heterotaxy' SubClassOf 'Growth abnormality' http://purl.obolibrary.org/obo/MONDO_0019044 tumor of hematopoietic and lymphoid tissues 'tumor of hematopoietic and lymphoid tissues' SubClassOf 'hematopoietic and lymphoid system neoplasm' http://purl.obolibrary.org/obo/MONDO_0019046 leukodystrophy 'leukodystrophy' SubClassOf 'inherited neurodegenerative disorder' http://purl.obolibrary.org/obo/MONDO_0020051 total autosomal trisomy 'total autosomal trisomy' SubClassOf 'autosomal anomaly' http://purl.obolibrary.org/obo/MONDO_0020050 obsolete autosomal trisomy 'obsolete autosomal trisomy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019064 hereditary spastic paraplegia 'hereditary spastic paraplegia' SubClassOf 'inherited neurodegenerative disorder' 'hereditary spastic paraplegia' SubClassOf 'paraplegia' http://purl.obolibrary.org/obo/MONDO_0020059 obsolete gonosome number anomaly 'obsolete gonosome number anomaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020058 gonosome anomaly 'gonosome anomaly' SubClassOf 'chromosomal disorder' http://purl.obolibrary.org/obo/MONDO_0020057 obsolete uniparental disomy of paternal origin 'obsolete uniparental disomy of paternal origin' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020056 obsolete uniparental disomy of maternal origin 'obsolete uniparental disomy of maternal origin' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0007077 Tietz syndrome 'Tietz syndrome' SubClassOf 'hypopigmentation of the skin' 'Tietz syndrome' SubClassOf 'eye disease' 'Tietz syndrome' SubClassOf 'genetic skin disease' 'Tietz syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0020055 obsolete autosomal uniparental disomy 'obsolete autosomal uniparental disomy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0007078 pseudohypoparathyroidism type 1A 'pseudohypoparathyroidism type 1A' SubClassOf 'pseudohypoparathyroidism' 'pseudohypoparathyroidism type 1A' SubClassOf 'syndromic genetic obesity' 'pseudohypoparathyroidism type 1A' SubClassOf 'dermis disorder' 'pseudohypoparathyroidism type 1A' SubClassOf 'genetic skin disease' 'pseudohypoparathyroidism type 1A' SubClassOf 'acromelic dysplasia' http://purl.obolibrary.org/obo/MONDO_0020054 obsolete partial autosomal monosomy 'obsolete partial autosomal monosomy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020053 obsolete total autosomal monosomy 'obsolete total autosomal monosomy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020052 partial autosomal trisomy/tetrasomy 'partial autosomal trisomy/tetrasomy' SubClassOf 'autosomal anomaly' http://purl.obolibrary.org/obo/MONDO_0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome 'alopecia-epilepsy-pyorrhea-intellectual disability syndrome' SubClassOf 'genetic nervous system disorder' 'alopecia-epilepsy-pyorrhea-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'alopecia-epilepsy-pyorrhea-intellectual disability syndrome' SubClassOf 'genetic alopecia' http://purl.obolibrary.org/obo/MONDO_0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia 'autosomal dominant palmoplantar keratoderma and congenital alopecia' SubClassOf 'diffuse palmoplantar keratoderma' 'autosomal dominant palmoplantar keratoderma and congenital alopecia' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0007080 glucocorticoid-remediable aldosteronism 'glucocorticoid-remediable aldosteronism' SubClassOf 'genetic hypertension' 'glucocorticoid-remediable aldosteronism' SubClassOf 'familial hyperaldosteronism' http://purl.obolibrary.org/obo/MONDO_0019058 neurometabolic disease 'neurometabolic disease' SubClassOf 'genetic nervous system disorder' 'neurometabolic disease' SubClassOf 'disease has feature' some 'metabolic disease' 'neurometabolic disease' SubClassOf 'brain disease' http://purl.obolibrary.org/obo/MONDO_0020040 46,XY disorder of sex development '46,XY disorder of sex development' SubClassOf 'difference of sexual differentiation' http://purl.obolibrary.org/obo/MONDO_0019075 Bosley-Salih-Alorainy syndrome 'Bosley-Salih-Alorainy syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Bosley-Salih-Alorainy syndrome' SubClassOf 'heart disease' 'Bosley-Salih-Alorainy syndrome' SubClassOf 'human HOXA1 syndromes' http://purl.obolibrary.org/obo/MONDO_0019071 pure hair and nail ectodermal dysplasia 'pure hair and nail ectodermal dysplasia' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0020047 autosomal recessive syndromic cerebellar ataxia 'autosomal recessive syndromic cerebellar ataxia' SubClassOf 'autosomal recessive cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0020046 autosomal recessive degenerative and progressive cerebellar ataxia 'autosomal recessive degenerative and progressive cerebellar ataxia' SubClassOf 'autosomal recessive cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0020044 autosomal recessive metabolic cerebellar ataxia 'autosomal recessive metabolic cerebellar ataxia' SubClassOf 'autosomal recessive cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0020043 autosomal recessive congenital cerebellar ataxia 'autosomal recessive congenital cerebellar ataxia' SubClassOf 'autosomal recessive cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0007086 autosomal dominant Alport syndrome 'autosomal dominant Alport syndrome' SubClassOf 'Alport syndrome' 'autosomal dominant Alport syndrome' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0007095 ameloonychohypohidrotic syndrome 'ameloonychohypohidrotic syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0007093 hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism 'hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism' SubClassOf 'amelogenesis imperfecta' http://purl.obolibrary.org/obo/MONDO_0020049 autosomal anomaly 'autosomal anomaly' SubClassOf 'chromosomal disorder' http://purl.obolibrary.org/obo/MONDO_0020073 adolescent-onset epilepsy syndrome 'adolescent-onset epilepsy syndrome' SubClassOf 'epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0020072 childhood-onset epilepsy syndrome 'childhood-onset epilepsy syndrome' SubClassOf 'epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0019083 Leigh syndrome with cardiomyopathy 'Leigh syndrome with cardiomyopathy' SubClassOf 'disease has feature' some 'cardiomyopathy' 'Leigh syndrome with cardiomyopathy' SubClassOf 'Leigh syndrome' 'Leigh syndrome with cardiomyopathy' EquivalentTo 'Leigh syndrome' and ('disease has feature' some 'cardiomyopathy') http://purl.obolibrary.org/obo/MONDO_0020071 infantile epilepsy syndrome 'infantile epilepsy syndrome' SubClassOf 'epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0020070 neonatal epilepsy syndrome 'neonatal epilepsy syndrome' SubClassOf 'epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0019080 alopecia totalis 'alopecia totalis' SubClassOf 'alopecia' http://purl.obolibrary.org/obo/MONDO_0007099 familial visceral amyloidosis 'familial visceral amyloidosis' SubClassOf 'secondary glomerular disease' 'familial visceral amyloidosis' SubClassOf 'hereditary amyloidosis' http://purl.obolibrary.org/obo/MONDO_0007097 Finnish type amyloidosis 'Finnish type amyloidosis' SubClassOf 'genetic peripheral neuropathy' 'Finnish type amyloidosis' SubClassOf 'syndromic corneal dystrophy' 'Finnish type amyloidosis' SubClassOf 'acquired peripheral neuropathy' 'Finnish type amyloidosis' SubClassOf 'hereditary amyloidosis' http://purl.obolibrary.org/obo/MONDO_0020075 genetic non-syndromic obesity 'genetic non-syndromic obesity' SubClassOf 'inherited obesity' 'genetic non-syndromic obesity' EquivalentTo 'inherited obesity' and ('has modifier' some 'has an isolated presentation') 'genetic non-syndromic obesity' SubClassOf 'has modifier' some 'has an isolated presentation' http://purl.obolibrary.org/obo/MONDO_0007098 ACys amyloidosis 'ACys amyloidosis' SubClassOf 'cerebral amyloid angiopathy' http://purl.obolibrary.org/obo/MONDO_0020074 progressive myoclonus epilepsy 'progressive myoclonus epilepsy' SubClassOf 'variable age onset epilepsy' 'progressive myoclonus epilepsy' SubClassOf 'childhood-onset epilepsy syndrome' 'progressive myoclonus epilepsy' SubClassOf 'genetic nervous system disorder' 'progressive myoclonus epilepsy' SubClassOf 'adolescent-onset epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0019079 proximal spinal muscular atrophy 'proximal spinal muscular atrophy' SubClassOf 'genetic peripheral neuropathy' 'proximal spinal muscular atrophy' SubClassOf 'spinal muscular atrophy' 'proximal spinal muscular atrophy' SubClassOf 'hereditary motor neuron disease' http://purl.obolibrary.org/obo/MONDO_0019078 Ritscher-Schinzel syndrome 'Ritscher-Schinzel syndrome' SubClassOf 'syndromic intellectual disability' 'Ritscher-Schinzel syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Ritscher-Schinzel syndrome' SubClassOf 'central nervous system malformation' 'Ritscher-Schinzel syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Ritscher-Schinzel syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Ritscher-Schinzel syndrome' SubClassOf 'disease has feature' some 'Dandy-Walker syndrome' 'Ritscher-Schinzel syndrome' SubClassOf 'genetic nervous system disorder' 'Ritscher-Schinzel syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0020062 obsolete chromosome X structural anomaly 'obsolete chromosome X structural anomaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020061 obsolete chromosome Y structural anomaly 'obsolete chromosome Y structural anomaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020060 obsolete gonosome structural anomaly 'obsolete gonosome structural anomaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019091 bronchopulmonary dysplasia 'bronchopulmonary dysplasia' SubClassOf 'respiratory malformation' 'bronchopulmonary dysplasia' SubClassOf 'non-syndromic respiratory or mediastinal malformation' http://purl.obolibrary.org/obo/MONDO_0019093 immunodeficiency due to selective anti-polysaccharide antibody deficiency 'immunodeficiency due to selective anti-polysaccharide antibody deficiency' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0020066 Ehlers-Danlos syndrome 'Ehlers-Danlos syndrome' SubClassOf 'syndromic disease' 'Ehlers-Danlos syndrome' SubClassOf 'genetic skin disease' 'Ehlers-Danlos syndrome' SubClassOf 'developmental defect during embryogenesis' 'Ehlers-Danlos syndrome' SubClassOf 'hereditary disorder of connective tissue' 'Ehlers-Danlos syndrome' SubClassOf 'dermis elastic tissue disorder' http://purl.obolibrary.org/obo/MONDO_0020065 combined dystonia 'combined dystonia' SubClassOf 'inherited dystonia' http://purl.obolibrary.org/obo/MONDO_0020093 autosomal dominant isolated diffuse palmoplantar keratoderma 'autosomal dominant isolated diffuse palmoplantar keratoderma' SubClassOf 'isolated diffuse palmoplantar keratoderma' 'autosomal dominant isolated diffuse palmoplantar keratoderma' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0020099 inherited sideroblastic anemia 'inherited sideroblastic anemia' SubClassOf 'sideroblastic anemia' 'inherited sideroblastic anemia' EquivalentTo 'sideroblastic anemia' and ('has modifier' some 'inherited') 'inherited sideroblastic anemia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0020096 autosomal recessive isolated diffuse palmoplantar keratoderma 'autosomal recessive isolated diffuse palmoplantar keratoderma' SubClassOf 'autosomal recessive disease' 'autosomal recessive isolated diffuse palmoplantar keratoderma' SubClassOf 'isolated diffuse palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0020088 familial partial lipodystrophy 'familial partial lipodystrophy' EquivalentTo 'partial lipodystrophy' and ('has modifier' some 'inherited') 'familial partial lipodystrophy' SubClassOf 'genetic lipodystrophy' 'familial partial lipodystrophy' SubClassOf 'laminopathy' 'familial partial lipodystrophy' SubClassOf 'partial lipodystrophy' http://purl.obolibrary.org/obo/MONDO_0020087 genetic lipodystrophy 'genetic lipodystrophy' SubClassOf 'primary lipodystrophy' 'genetic lipodystrophy' EquivalentTo 'lipodystrophy' and ('has modifier' some 'inherited') 'genetic lipodystrophy' SubClassOf 'inborn errors of metabolism' 'genetic lipodystrophy' SubClassOf 'genetic skin disease' 'genetic lipodystrophy' SubClassOf 'lipodystrophy' http://purl.obolibrary.org/obo/HP_0003202 Skeletal muscle atrophy 'Skeletal muscle atrophy' SubClassOf 'Abnormality of muscle size' http://purl.obolibrary.org/obo/MONDO_0009507 Lambert syndrome 'Lambert syndrome' SubClassOf 'branchial arch or oral-acral syndrome' 'Lambert syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009506 specific granule deficiency 'specific granule deficiency' SubClassOf 'functional neutrophil defect' 'specific granule deficiency' SubClassOf 'defective phagocytic cell engulfment' http://purl.obolibrary.org/obo/MONDO_0009504 mitochondrial DNA depletion syndrome 9 'mitochondrial DNA depletion syndrome 9' SubClassOf 'mitochondrial DNA depletion syndrome, encephalomyopathic form' 'mitochondrial DNA depletion syndrome 9' SubClassOf 'lactic acidosis' http://purl.obolibrary.org/obo/MONDO_0009503 pyruvate dehydrogenase E3-binding protein deficiency 'pyruvate dehydrogenase E3-binding protein deficiency' SubClassOf 'pyruvate dehydrogenase deficiency' http://purl.obolibrary.org/obo/MONDO_0009502 pyruvate dehydrogenase E2 deficiency 'pyruvate dehydrogenase E2 deficiency' SubClassOf 'pyruvate dehydrogenase deficiency' http://purl.obolibrary.org/obo/MONDO_0009501 metabolic myopathy due to lactate transporter defect 'metabolic myopathy due to lactate transporter defect' SubClassOf 'metabolic myopathy' 'metabolic myopathy due to lactate transporter defect' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009517 Donohue syndrome 'Donohue syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Donohue syndrome' SubClassOf 'syndromic disease' 'Donohue syndrome' SubClassOf 'diabetes mellitus' 'Donohue syndrome' SubClassOf 'hypertrichosis' 'Donohue syndrome' SubClassOf 'inborn errors of metabolism' 'Donohue syndrome' SubClassOf 'developmental anomaly of metabolic origin' 'Donohue syndrome' SubClassOf 'progeroid syndrome' 'Donohue syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0009516 absence deformity of leg-cataract syndrome 'absence deformity of leg-cataract syndrome' SubClassOf 'congenital limb malformation' 'absence deformity of leg-cataract syndrome' SubClassOf 'dysostosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0009515 Norum disease 'Norum disease' SubClassOf 'familial hemolytic anemia' 'Norum disease' SubClassOf 'LCAT deficiency' 'Norum disease' SubClassOf 'hypolipoproteinemia' http://purl.obolibrary.org/obo/MONDO_0009514 Laurence-Moon syndrome 'Laurence-Moon syndrome' SubClassOf 'autosomal recessive disease' 'Laurence-Moon syndrome' SubClassOf 'congenital nervous system disorder' 'Laurence-Moon syndrome' SubClassOf 'syndromic retinitis pigmentosa' 'Laurence-Moon syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Laurence-Moon syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Laurence-Moon syndrome' SubClassOf 'syndromic intellectual disability' 'Laurence-Moon syndrome' SubClassOf 'congenital hypogonadotropic hypogonadism' http://purl.obolibrary.org/obo/MONDO_0009513 laryngo-onycho-cutaneous syndrome 'laryngo-onycho-cutaneous syndrome' SubClassOf 'respiratory malformation' 'laryngo-onycho-cutaneous syndrome' SubClassOf 'junctional epidermolysis bullosa' 'laryngo-onycho-cutaneous syndrome' SubClassOf 'syndromic respiratory or mediastinal malformation' http://purl.obolibrary.org/obo/MONDO_0009512 lethal Larsen-like syndrome 'lethal Larsen-like syndrome' SubClassOf 'developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0009511 Larsen-like syndrome, B3GAT3 type 'Larsen-like syndrome, B3GAT3 type' SubClassOf 'disorder of O-xylosylglycan synthesis' 'Larsen-like syndrome, B3GAT3 type' SubClassOf 'heart disease' 'Larsen-like syndrome, B3GAT3 type' SubClassOf 'congenital disorder of glycosylation-related bone disorder' 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 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'intellectual disability-balding-patella luxation-acromicria syndrome' SubClassOf 'congenital nervous system disorder' 'intellectual disability-balding-patella luxation-acromicria syndrome' SubClassOf 'acromelic dysplasia' http://purl.obolibrary.org/obo/MONDO_0009529 pyruvate dehydrogenase E3 deficiency 'pyruvate dehydrogenase E3 deficiency' SubClassOf 'maple syrup urine disease' 'pyruvate dehydrogenase E3 deficiency' SubClassOf 'pyruvate dehydrogenase deficiency' 'pyruvate dehydrogenase E3 deficiency' SubClassOf 'inherited lipoic acid biosynthesis defect' http://purl.obolibrary.org/obo/MONDO_0009528 chylomicron retention disease 'chylomicron retention disease' SubClassOf 'hypobetalipoproteinemia' 'chylomicron retention disease' SubClassOf 'intestinal disease due to fat malabsorption' http://purl.obolibrary.org/obo/MONDO_0009525 split hand-foot malformation 3 'split hand-foot malformation 3' SubClassOf 'partial duplication of the long arm of chromosome 10' 'split hand-foot malformation 3' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'split hand-foot malformation 3' SubClassOf 'split hand-foot malformation' http://purl.obolibrary.org/obo/MONDO_0009524 intellectual disability-spasticity-ectrodactyly syndrome 'intellectual disability-spasticity-ectrodactyly syndrome' SubClassOf 'congenital limb malformation' 'intellectual disability-spasticity-ectrodactyly syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'intellectual disability-spasticity-ectrodactyly syndrome' SubClassOf 'syndromic intellectual disability' 'intellectual disability-spasticity-ectrodactyly syndrome' SubClassOf 'dysostosis' 'intellectual disability-spasticity-ectrodactyly syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0009523 Lichtenstein syndrome 'Lichtenstein syndrome' SubClassOf 'constitutional neutropenia' http://purl.obolibrary.org/obo/MONDO_0009522 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome 'Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0009520 3-hydroxy-3-methylglutaric aciduria '3-hydroxy-3-methylglutaric aciduria' SubClassOf 'disorder of fatty acid oxidation and ketogenesis' '3-hydroxy-3-methylglutaric aciduria' SubClassOf 'classic organic aciduria' http://purl.obolibrary.org/obo/MONDO_0010519 alpha thalassemia-X-linked intellectual disability syndrome 'alpha thalassemia-X-linked intellectual disability syndrome' SubClassOf '46,XY disorder of sex development' 'alpha thalassemia-X-linked intellectual disability syndrome' SubClassOf 'inherited hemoglobinopathy' 'alpha thalassemia-X-linked intellectual disability syndrome' SubClassOf 'congenital anemia' 'alpha thalassemia-X-linked intellectual disability syndrome' SubClassOf 'ATR-X-related syndrome' 'alpha thalassemia-X-linked intellectual disability syndrome' SubClassOf 'alpha-thalassemia-related diseases' http://purl.obolibrary.org/obo/MONDO_0010518 Wiskott-Aldrich syndrome 'Wiskott-Aldrich syndrome' SubClassOf 'genetic skin disease' 'Wiskott-Aldrich syndrome' SubClassOf 'hereditary neoplastic syndrome' 'Wiskott-Aldrich syndrome' SubClassOf 'X-linked disease' 'Wiskott-Aldrich syndrome' SubClassOf 'dense granule disease' 'Wiskott-Aldrich syndrome' SubClassOf 'combined immunodeficiency' 'Wiskott-Aldrich syndrome' SubClassOf 'inherited blood coagulation disorder' http://purl.obolibrary.org/obo/MONDO_0010524 X-linked sideroblastic anemia with ataxia 'X-linked sideroblastic anemia with ataxia' SubClassOf 'unspecified inborn mitochondrial disorder' 'X-linked sideroblastic anemia with ataxia' SubClassOf 'inherited sideroblastic anemia' 'X-linked sideroblastic anemia with ataxia' SubClassOf 'X-linked cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0010523 X-linked reticulate pigmentary disorder 'X-linked reticulate pigmentary disorder' SubClassOf 'syndromic corneal dystrophy' 'X-linked reticulate pigmentary disorder' SubClassOf 'genetic skin disease' 'X-linked reticulate pigmentary disorder' SubClassOf 'hereditary disorder of connective tissue' 'X-linked reticulate pigmentary disorder' SubClassOf 'type 1 interferonopathy' http://purl.obolibrary.org/obo/MONDO_0009533 Dahlberg-Borer-Newcomer syndrome 'Dahlberg-Borer-Newcomer syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Dahlberg-Borer-Newcomer syndrome' SubClassOf 'syndromic lymphedema' 'Dahlberg-Borer-Newcomer syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'Dahlberg-Borer-Newcomer syndrome' SubClassOf 'lymphatic malformation' http://purl.obolibrary.org/obo/MONDO_0010526 Fabry disease 'Fabry disease' SubClassOf 'sphingolipidosis' 'Fabry disease' SubClassOf 'lymphatic malformation' 'Fabry disease' SubClassOf 'nephropathy secondary to a storage or other metabolic disease' 'Fabry disease' SubClassOf 'familial restrictive cardiomyopathy' 'Fabry disease' SubClassOf 'syndromic dyslipidemia' 'Fabry disease' SubClassOf 'syndromic lymphedema' 'Fabry disease' SubClassOf 'syndromic cataract' 'Fabry disease' SubClassOf 'genetic skin disease' 'Fabry disease' SubClassOf 'neurovascular disorder' 'Fabry disease' SubClassOf 'genetic peripheral neuropathy' 'Fabry disease' SubClassOf 'developmental anomaly of metabolic origin' 'Fabry disease' SubClassOf 'disease has feature' some 'metabolic disease' '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 'chromosome 17p deletion' 'Miller-Dieker lissencephaly syndrome' SubClassOf 'classic lissencephaly' http://purl.obolibrary.org/obo/MONDO_0009530 lipoid proteinosis 'lipoid proteinosis' SubClassOf 'inherited lipid metabolism disorder' 'lipoid proteinosis' SubClassOf 'genetic skin disease' 'lipoid proteinosis' SubClassOf 'has modifier' some 'rare' 'lipoid proteinosis' SubClassOf 'dermis disorder' http://purl.obolibrary.org/obo/MONDO_0010529 X-linked spinocerebellar ataxia type 3 'X-linked spinocerebellar ataxia type 3' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked spinocerebellar ataxia type 3' SubClassOf 'X-linked cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0010520 X-linked Alport syndrome 'X-linked Alport syndrome' SubClassOf 'X-linked deafness' 'X-linked Alport syndrome' SubClassOf 'Alport syndrome' http://purl.obolibrary.org/obo/MONDO_0009549 severe early-childhood-onset retinal dystrophy 'severe early-childhood-onset retinal dystrophy' SubClassOf 'Stargardt disease' http://purl.obolibrary.org/obo/MONDO_0009548 renal hypomagnesemia 5 with ocular involvement 'renal hypomagnesemia 5 with ocular involvement' SubClassOf 'familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis' 'renal hypomagnesemia 5 with ocular involvement' SubClassOf 'genetic macular dystrophy' http://purl.obolibrary.org/obo/MONDO_0009547 macrosomia-microphthalmia-cleft palate syndrome 'macrosomia-microphthalmia-cleft palate syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'macrosomia-microphthalmia-cleft palate syndrome' SubClassOf 'orofacial clefting syndrome' 'macrosomia-microphthalmia-cleft palate syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010535 Bazex-Dupre-Christol syndrome 'Bazex-Dupre-Christol syndrome' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0010534 X-linked spinocerebellar ataxia type 4 'X-linked spinocerebellar ataxia type 4' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked spinocerebellar ataxia type 4' SubClassOf 'X-linked cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0010537 Borjeson-Forssman-Lehmann syndrome 'Borjeson-Forssman-Lehmann syndrome' SubClassOf 'eyelids malposition disorder' 'Borjeson-Forssman-Lehmann syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Borjeson-Forssman-Lehmann syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Borjeson-Forssman-Lehmann syndrome' SubClassOf 'syndromic genetic obesity' 'Borjeson-Forssman-Lehmann syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Borjeson-Forssman-Lehmann syndrome' SubClassOf 'congenital nervous system disorder' 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' 'prominent glabella-microcephaly-hypogenitalism syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010539 X-linked mandibulofacial dysostosis 'X-linked mandibulofacial dysostosis' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked mandibulofacial dysostosis' SubClassOf 'genetic otorhinolaryngologic disease' 'X-linked mandibulofacial dysostosis' SubClassOf 'acrofacial dysostosis' 'X-linked mandibulofacial dysostosis' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'X-linked mandibulofacial dysostosis' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked mandibulofacial dysostosis' SubClassOf 'branchial arch or oral-acral syndrome' 'X-linked mandibulofacial dysostosis' SubClassOf 'mandibulofacial dysostosis' 'X-linked mandibulofacial dysostosis' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0010538 Mononen-Karnes-Senac syndrome 'Mononen-Karnes-Senac syndrome' SubClassOf 'congenital limb malformation' 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' 'contractures-ectodermal dysplasia-cleft lip/palate syndrome' SubClassOf 'genetic nervous system disorder' 'contractures-ectodermal dysplasia-cleft lip/palate syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'contractures-ectodermal dysplasia-cleft lip/palate syndrome' SubClassOf 'orofacial clefting syndrome' 'contractures-ectodermal dysplasia-cleft lip/palate syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://purl.obolibrary.org/obo/MONDO_0010533 Arts syndrome 'Arts syndrome' SubClassOf 'syndromic genetic hearing loss' 'Arts syndrome' SubClassOf 'X-linked cerebellar ataxia' 'Arts syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Arts syndrome' SubClassOf 'developmental anomaly of metabolic origin' 'Arts syndrome' SubClassOf 'X-linked deafness' 'Arts syndrome' SubClassOf 'inborn disorder of purine metabolism' http://purl.obolibrary.org/obo/MONDO_0010532 infantile-onset X-linked spinal muscular atrophy 'infantile-onset X-linked spinal muscular atrophy' SubClassOf 'hereditary motor neuron disease' 'infantile-onset X-linked spinal muscular atrophy' SubClassOf 'congenital nervous system disorder' 'infantile-onset X-linked spinal muscular atrophy' SubClassOf 'spinal muscular atrophy' 'infantile-onset X-linked spinal muscular atrophy' SubClassOf 'arthrogryposis multiplex congenita' http://purl.obolibrary.org/obo/MONDO_0009557 mandibuloacral dysplasia with type A lipodystrophy 'mandibuloacral dysplasia with type A lipodystrophy' SubClassOf 'mandibuloacral dysplasia' 'mandibuloacral dysplasia with type A lipodystrophy' SubClassOf 'laminopathy' http://purl.obolibrary.org/obo/MONDO_0009556 malonic aciduria 'malonic aciduria' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0010545 Nance-Horan syndrome 'Nance-Horan syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Nance-Horan syndrome' SubClassOf 'syndromic cataract' 'Nance-Horan syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0010547 X-linked progressive cerebellar ataxia 'X-linked progressive cerebellar ataxia' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked progressive cerebellar ataxia' SubClassOf 'X-linked cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0009552 mal de Meleda 'mal de Meleda' SubClassOf 'autosomal recessive isolated diffuse palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0010549 Charcot-Marie-Tooth disease X-linked dominant 1 'Charcot-Marie-Tooth disease X-linked dominant 1' SubClassOf 'Charcot-Marie-Tooth disease type X' http://purl.obolibrary.org/obo/MONDO_0009550 renal hypomagnesemia 3 'renal hypomagnesemia 3' SubClassOf 'nephrocalcinosis' 'renal hypomagnesemia 3' SubClassOf 'renal tubular transport disease' 'renal hypomagnesemia 3' SubClassOf 'familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis' http://purl.obolibrary.org/obo/MONDO_0009560 oculotrichoanal syndrome 'oculotrichoanal syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0010540 bullous dystrophy, macular type 'bullous dystrophy, macular type' SubClassOf 'epidermal disease' 'bullous dystrophy, macular type' SubClassOf 'X-linked syndromic intellectual disability' 'bullous dystrophy, macular type' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0010541 X-linked calvarial hyperostosis 'X-linked calvarial hyperostosis' SubClassOf 'hyperostosis' http://purl.obolibrary.org/obo/MONDO_0010543 Barth syndrome 'Barth syndrome' SubClassOf 'disorder of phospholipids, sphingolipids and fatty acids biosynthesis' 'Barth syndrome' SubClassOf 'inborn mitochondrial myopathy' 'Barth syndrome' SubClassOf 'familial dilated cardiomyopathy' 'Barth syndrome' SubClassOf 'constitutional neutropenia' 'Barth syndrome' SubClassOf 'syndromic dyslipidemia' 'Barth syndrome' SubClassOf '3-methylglutaconic aciduria' http://purl.obolibrary.org/obo/MONDO_0009569 Hennekam-Beemer syndrome 'Hennekam-Beemer syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0009568 mast syndrome 'mast syndrome' SubClassOf 'pure or complex autosomal recessive spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0010557 choroideremia 'choroideremia' SubClassOf 'X-linked disease' 'choroideremia' SubClassOf 'inherited retinal dystrophy' 'choroideremia' SubClassOf 'neurovascular disorder' 'choroideremia' SubClassOf 'optic choroid disorder' http://purl.obolibrary.org/obo/MONDO_0009567 Marinesco-Sjogren syndrome 'Marinesco-Sjogren syndrome' SubClassOf 'autosomal recessive degenerative and progressive cerebellar ataxia' 'Marinesco-Sjogren syndrome' SubClassOf 'syndromic epicanthus' http://purl.obolibrary.org/obo/MONDO_0010556 X-linked chondrodysplasia punctata 'X-linked chondrodysplasia punctata' SubClassOf 'non-rhizomelic chondrodysplasia punctata' 'X-linked chondrodysplasia punctata' SubClassOf 'sterol biosynthesis disorder' 'X-linked chondrodysplasia punctata' SubClassOf 'X-linked disease' 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' 'marfanoid habitus-autosomal recessive intellectual disability syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010559 MASA syndrome 'MASA syndrome' SubClassOf 'X-linked complex spastic paraplegia' 'MASA syndrome' SubClassOf 'L1 syndrome' 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' 'microcephaly-glomerulonephritis-marfanoid habitus syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010558 choroideremia-deafness-obesity syndrome 'choroideremia-deafness-obesity syndrome' SubClassOf 'syndromic genetic hearing loss' 'choroideremia-deafness-obesity syndrome' SubClassOf 'syndromic genetic obesity' 'choroideremia-deafness-obesity syndrome' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0009564 Marden-Walker syndrome 'Marden-Walker syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Marden-Walker syndrome' SubClassOf 'arthrogryposis multiplex congenita' 'Marden-Walker syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Marden-Walker syndrome' SubClassOf 'syndromic intellectual disability' 'Marden-Walker syndrome' SubClassOf 'ciliopathy' 'Marden-Walker syndrome' SubClassOf 'congenital nervous system disorder' 'Marden-Walker syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0009563 maple syrup urine disease 'maple syrup urine disease' SubClassOf 'inborn disorder of branched-chain amino acid metabolism' http://purl.obolibrary.org/obo/MONDO_0009562 beta-mannosidosis 'beta-mannosidosis' SubClassOf 'bone disease' 'beta-mannosidosis' SubClassOf 'oligosaccharidosis' 'beta-mannosidosis' SubClassOf 'genetic peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0009561 alpha-mannosidosis 'alpha-mannosidosis' SubClassOf 'syndromic cataract' 'alpha-mannosidosis' SubClassOf 'bone disease' 'alpha-mannosidosis' SubClassOf 'neurometabolic disease' 'alpha-mannosidosis' SubClassOf 'oligosaccharidosis' http://purl.obolibrary.org/obo/MONDO_0009570 McDonough syndrome 'McDonough syndrome' SubClassOf 'syndromic intellectual disability' 'McDonough syndrome' SubClassOf 'congenital nervous system disorder' 'McDonough syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010551 Charcot-Marie-Tooth disease X-linked recessive 3 'Charcot-Marie-Tooth disease X-linked recessive 3' SubClassOf 'Charcot-Marie-Tooth disease type X' http://purl.obolibrary.org/obo/MONDO_0010550 Charcot-Marie-Tooth disease X-linked recessive 2 'Charcot-Marie-Tooth disease X-linked recessive 2' SubClassOf 'Charcot-Marie-Tooth disease type X' http://purl.obolibrary.org/obo/MONDO_0010554 Abruzzo-Erickson syndrome 'Abruzzo-Erickson syndrome' SubClassOf 'orofacial clefting syndrome' 'Abruzzo-Erickson syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Abruzzo-Erickson syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'Abruzzo-Erickson syndrome' SubClassOf 'syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0009579 Frank-Ter Haar syndrome 'Frank-Ter Haar syndrome' SubClassOf 'genetic disorder' 'Frank-Ter Haar syndrome' SubClassOf 'otopalatodigital syndrome spectrum disorder' http://purl.obolibrary.org/obo/MONDO_0010568 Aicardi syndrome 'Aicardi syndrome' SubClassOf 'disorder of development or morphogenesis' 'Aicardi syndrome' SubClassOf 'genetic nervous system disorder' 'Aicardi syndrome' SubClassOf 'neuro-ophthalmological disease' 'Aicardi syndrome' SubClassOf 'syndromic disease' 'Aicardi syndrome' SubClassOf 'neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0009577 megalocornea-intellectual disability syndrome 'megalocornea-intellectual disability syndrome' SubClassOf 'has modifier' some 'rare' 'megalocornea-intellectual disability syndrome' SubClassOf 'eye disease' 'megalocornea-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010569 X-linked complicated corpus callosum dysgenesis 'X-linked complicated corpus callosum dysgenesis' SubClassOf 'L1 syndrome' http://purl.obolibrary.org/obo/MONDO_0009575 thiamine-responsive megaloblastic anemia syndrome 'thiamine-responsive megaloblastic anemia syndrome' SubClassOf 'syndromic genetic hearing loss' 'thiamine-responsive megaloblastic anemia syndrome' SubClassOf 'thiamine-responsive dysfunction syndrome' 'thiamine-responsive megaloblastic anemia syndrome' SubClassOf 'developmental anomaly of metabolic origin' 'thiamine-responsive megaloblastic anemia syndrome' SubClassOf 'autosomal recessive disease' 'thiamine-responsive megaloblastic anemia syndrome' SubClassOf 'vitamin B12- and folate-independent constitutional megaloblastic anemia' 'thiamine-responsive megaloblastic anemia syndrome' SubClassOf 'diabetes mellitus' http://purl.obolibrary.org/obo/MONDO_0009582 Mietens syndrome 'Mietens syndrome' SubClassOf 'syndromic corneal dystrophy' 'Mietens syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0009581 intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome 'intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '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_0010562 colonic atresia 'colonic atresia' SubClassOf 'non-syndromic intestinal malformation' http://purl.obolibrary.org/obo/MONDO_0010561 Coffin-Lowry syndrome 'Coffin-Lowry syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Coffin-Lowry syndrome' SubClassOf 'scoliosis' 'Coffin-Lowry syndrome' SubClassOf 'epilepsy' 'Coffin-Lowry syndrome' SubClassOf 'syndromic genetic obesity' http://purl.obolibrary.org/obo/MONDO_0010563 blue cone monochromacy 'blue cone monochromacy' SubClassOf 'achromatopsia' 'blue cone monochromacy' SubClassOf 'X-linked recessive disease' 'blue cone monochromacy' SubClassOf 'X-linked cone-rod dystrophy' http://purl.obolibrary.org/obo/MONDO_0010579 X-linked corneal dermoid 'X-linked corneal dermoid' SubClassOf 'syndromic corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0009589 mesomelic dwarfism-cleft palate-camptodactyly syndrome 'mesomelic dwarfism-cleft palate-camptodactyly syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'mesomelic dwarfism-cleft palate-camptodactyly syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'mesomelic dwarfism-cleft palate-camptodactyly syndrome' SubClassOf 'mesomelic and rhizo-mesomelic dysplasia' 'mesomelic dwarfism-cleft palate-camptodactyly syndrome' SubClassOf 'orofacial clefting syndrome' http://purl.obolibrary.org/obo/MONDO_0010578 deafness dystonia syndrome 'deafness dystonia syndrome' SubClassOf 'syndromic genetic hearing loss' 'deafness dystonia syndrome' SubClassOf 'mitochondrial protein import disorder' 'deafness dystonia syndrome' SubClassOf 'eye degenerative disorder' 'deafness dystonia syndrome' SubClassOf 'inherited neurodegenerative disorder' 'deafness dystonia syndrome' SubClassOf 'X-linked deafness' 'deafness dystonia syndrome' SubClassOf 'syndromic hereditary optic neuropathy' 'deafness dystonia syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009588 Langer mesomelic dysplasia 'Langer mesomelic dysplasia' SubClassOf 'mesomelic and rhizo-mesomelic dysplasia' http://purl.obolibrary.org/obo/MONDO_0009585 encephalopathy due to beta-mercaptolactate-cysteine disulfiduria 'encephalopathy due to beta-mercaptolactate-cysteine disulfiduria' SubClassOf 'inherited neurodegenerative disorder' http://purl.obolibrary.org/obo/MONDO_0009584 intellectual disability, Buenos-Aires type 'intellectual disability, Buenos-Aires type' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'intellectual disability, Buenos-Aires type' SubClassOf 'congenital nervous system disorder' 'intellectual disability, Buenos-Aires type' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009583 blepharophimosis - intellectual disability syndrome, Ohdo type 'blepharophimosis - intellectual disability syndrome, Ohdo type' SubClassOf 'Ohdo syndrome and variants' http://purl.obolibrary.org/obo/MONDO_0009593 spondylometaphyseal dysplasia, Sedaghatian type 'spondylometaphyseal dysplasia, Sedaghatian type' SubClassOf 'spondylodysplastic dysplasia' 'spondylometaphyseal dysplasia, Sedaghatian type' SubClassOf 'spondylometaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0010571 otopalatodigital syndrome type 2 'otopalatodigital syndrome type 2' SubClassOf 'otopalatodigital syndrome' http://purl.obolibrary.org/obo/MONDO_0009592 metaphyseal acroscyphodysplasia 'metaphyseal acroscyphodysplasia' SubClassOf 'multiple metaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0010570 craniofrontonasal syndrome 'craniofrontonasal syndrome' SubClassOf 'congenital nervous system disorder' 'craniofrontonasal syndrome' SubClassOf 'acrofacial dysostosis' 'craniofrontonasal syndrome' SubClassOf 'neurocristopathy' 'craniofrontonasal syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'craniofrontonasal syndrome' SubClassOf 'frontonasal dysplasia' http://purl.obolibrary.org/obo/MONDO_0009591 metachromatic leukodystrophy, juvenile form 'metachromatic leukodystrophy, juvenile form' SubClassOf 'metachromatic leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0010572 occipital horn syndrome 'occipital horn syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'occipital horn syndrome' SubClassOf 'developmental anomaly of metabolic origin' 'occipital horn syndrome' SubClassOf 'disorder of copper metabolism' 'occipital horn syndrome' SubClassOf 'inherited cutis laxa' http://purl.obolibrary.org/obo/MONDO_0010575 deafness-hypogonadism syndrome 'deafness-hypogonadism syndrome' SubClassOf 'syndromic genetic hearing loss' 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 'disease has major feature' some 'central nervous system malformation' 'syndromic X-linked intellectual disability 5' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'syndromic X-linked intellectual disability 5' SubClassOf 'central nervous system malformation' 'syndromic X-linked intellectual disability 5' SubClassOf 'congenital nervous system disorder' 'syndromic X-linked intellectual disability 5' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0010576 X-linked mixed hearing loss with perilymphatic gusher 'X-linked mixed hearing loss with perilymphatic gusher' SubClassOf 'inner ear disease' 'X-linked mixed hearing loss with perilymphatic gusher' SubClassOf 'genetic otorhinolaryngologic disease' 'X-linked mixed hearing loss with perilymphatic gusher' SubClassOf 'X-linked nonsyndromic hearing loss' 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' 'metaphyseal dysostosis-intellectual disability-conductive deafness syndrome' SubClassOf 'syndromic genetic hearing loss' 'metaphyseal dysostosis-intellectual disability-conductive deafness syndrome' SubClassOf 'multiple metaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome 'metaphyseal chondrodysplasia-retinitis pigmentosa syndrome' SubClassOf 'genetic disorder' 'metaphyseal chondrodysplasia-retinitis pigmentosa syndrome' SubClassOf 'multiple metaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0009597 metaphyseal chondrodysplasia, Spahr type 'metaphyseal chondrodysplasia, Spahr type' SubClassOf 'genetic disorder' 'metaphyseal chondrodysplasia, Spahr type' SubClassOf 'multiple metaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0009595 cartilage-hair hypoplasia 'cartilage-hair hypoplasia' SubClassOf 'immuno-osseous dysplasia' 'cartilage-hair hypoplasia' SubClassOf 'ectodermal dysplasia syndrome' 'cartilage-hair hypoplasia' SubClassOf 'autosomal recessive disease' 'cartilage-hair hypoplasia' SubClassOf 'multiple metaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0009594 metaphyseal chondrodysplasia, Kaitila type 'metaphyseal chondrodysplasia, Kaitila type' SubClassOf 'multiple metaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0010586 X-linked Ehlers-Danlos syndrome 'X-linked Ehlers-Danlos syndrome' SubClassOf 'X-linked disease' 'X-linked Ehlers-Danlos syndrome' SubClassOf 'Ehlers-Danlos syndrome' http://purl.obolibrary.org/obo/MONDO_0010585 X-linked hypohidrotic ectodermal dysplasia 'X-linked hypohidrotic ectodermal dysplasia' SubClassOf 'X-linked disease' 'X-linked hypohidrotic ectodermal dysplasia' SubClassOf 'hypohidrotic ectodermal dysplasia' http://purl.obolibrary.org/obo/MONDO_0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome 'immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf 'autoimmune polyendocrinopathy' 'immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf 'intractable diarrhea of infancy' 'immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf 'autoimmune enteropathy' 'immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf 'hypersensitivity reaction disease' 'immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0010592 focal dermal hypoplasia 'focal dermal hypoplasia' SubClassOf 'lens shape anomaly' 'focal dermal hypoplasia' SubClassOf 'X-linked syndromic intellectual disability' 'focal dermal hypoplasia' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'focal dermal hypoplasia' SubClassOf 'hereditary disorder of connective tissue' 'focal dermal hypoplasia' SubClassOf 'mixed dermis disorder' 'focal dermal hypoplasia' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0010591 fingerprint body myopathy 'fingerprint body myopathy' SubClassOf 'congenital myopathy' http://purl.obolibrary.org/obo/GO_0072710 response to hydroxyurea 'response to hydroxyurea' SubClassOf 'response to stimulus' http://purl.obolibrary.org/obo/MONDO_0009406 hypertrichotic osteochondrodysplasia Cantu type 'hypertrichotic osteochondrodysplasia Cantu type' SubClassOf 'disease has feature' some 'hypertrichosis' 'hypertrichotic osteochondrodysplasia Cantu type' SubClassOf 'dysostosis of genetic origin' 'hypertrichotic osteochondrodysplasia Cantu type' SubClassOf 'osteochondrodysplasia' 'hypertrichotic osteochondrodysplasia Cantu type' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0009405 cervical hypertrichosis-peripheral neuropathy syndrome 'cervical hypertrichosis-peripheral neuropathy syndrome' SubClassOf 'central nervous system malformation' 'cervical hypertrichosis-peripheral neuropathy syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'cervical hypertrichosis-peripheral neuropathy syndrome' SubClassOf 'genetic nervous system disorder' 'cervical hypertrichosis-peripheral neuropathy syndrome' SubClassOf 'hypertrichosis' 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 'genetic multiple congenital anomalies/dysmorphic syndrome' 'hypertelorism, microtia, facial clefting syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'hypertelorism, microtia, facial clefting syndrome' SubClassOf 'syndromic intellectual disability' 'hypertelorism, microtia, facial clefting syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'hypertelorism, microtia, facial clefting syndrome' SubClassOf 'autosomal recessive disease' 'hypertelorism, microtia, facial clefting syndrome' SubClassOf 'branchial arch or oral-acral syndrome' 'hypertelorism, microtia, facial clefting syndrome' SubClassOf 'orofacial clefting syndrome' 'hypertelorism, microtia, facial clefting syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0009402 acrofrontofacionasal dysostosis 2 'acrofrontofacionasal dysostosis 2' SubClassOf 'acrofrontofacionasal dysostosis' 'acrofrontofacionasal dysostosis 2' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'acrofrontofacionasal dysostosis 2' SubClassOf 'syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0009401 hyperprolinemia type 2 'hyperprolinemia type 2' SubClassOf 'hyperprolinemia' 'hyperprolinemia type 2' SubClassOf 'cerebral organic aciduria' 'hyperprolinemia type 2' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0009400 hyperprolinemia type 1 'hyperprolinemia type 1' SubClassOf 'cerebral organic aciduria' 'hyperprolinemia type 1' SubClassOf 'neurometabolic disease' 'hyperprolinemia type 1' SubClassOf 'hyperprolinemia' http://purl.obolibrary.org/obo/MONDO_0009419 Woodhouse-Sakati syndrome 'Woodhouse-Sakati syndrome' SubClassOf 'syndromic intellectual disability' 'Woodhouse-Sakati syndrome' SubClassOf 'inherited dystonia' 'Woodhouse-Sakati syndrome' SubClassOf 'congenital hypogonadotropic hypogonadism' 'Woodhouse-Sakati syndrome' SubClassOf 'diabetes mellitus' 'Woodhouse-Sakati syndrome' SubClassOf 'neurodegeneration with brain iron accumulation' http://purl.obolibrary.org/obo/MONDO_0009417 hypergonadotropic hypogonadism-cataract syndrome 'hypergonadotropic hypogonadism-cataract syndrome' SubClassOf 'syndromic cataract' http://purl.obolibrary.org/obo/MONDO_0009416 hypoinsulinemic hypoglycemia and body hemihypertrophy 'hypoinsulinemic hypoglycemia and body hemihypertrophy' SubClassOf 'genetic disorder' 'hypoinsulinemic hypoglycemia and body hemihypertrophy' SubClassOf 'overgrowth syndrome' 'hypoinsulinemic hypoglycemia and body hemihypertrophy' SubClassOf 'endocrine system disease' http://purl.obolibrary.org/obo/MONDO_0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency 'glycogen storage disorder due to hepatic glycogen synthase deficiency' SubClassOf 'glycogen storage disease' http://purl.obolibrary.org/obo/MONDO_0010403 albinism-hearing loss syndrome 'albinism-hearing loss syndrome' SubClassOf 'albinism' 'albinism-hearing loss syndrome' SubClassOf 'syndromic genetic hearing loss' 'albinism-hearing loss syndrome' SubClassOf 'hypopigmentation of the skin' 'albinism-hearing loss syndrome' SubClassOf 'genetic skin disease' 'albinism-hearing loss syndrome' SubClassOf 'developmental anomaly of metabolic origin' http://purl.obolibrary.org/obo/MONDO_0009411 autoimmune polyendocrine syndrome type 1 'autoimmune polyendocrine syndrome type 1' SubClassOf 'autoimmune polyendocrinopathy' 'autoimmune polyendocrine syndrome type 1' SubClassOf 'genetic hypoparathyroidism' 'autoimmune polyendocrine syndrome type 1' SubClassOf 'autoimmune hypoparathyroidism' 'autoimmune polyendocrine syndrome type 1' SubClassOf 'adrenal gland disease' http://purl.obolibrary.org/obo/MONDO_0010404 X-linked non progressive cerebellar ataxia 'X-linked non progressive cerebellar ataxia' SubClassOf 'X-linked cerebellar ataxia' 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' 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' http://purl.obolibrary.org/obo/MONDO_0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome 'syndactyly-telecanthus-anogenital and renal malformations syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'syndactyly-telecanthus-anogenital and renal malformations syndrome' SubClassOf 'congenital limb malformation' 'syndactyly-telecanthus-anogenital and renal malformations syndrome' SubClassOf 'dysostosis of genetic origin' 'syndactyly-telecanthus-anogenital and renal malformations syndrome' SubClassOf 'syndromic anorectal malformation' http://purl.obolibrary.org/obo/MONDO_0010401 X-linked myopathy with postural muscle atrophy 'X-linked myopathy with postural muscle atrophy' SubClassOf 'Emery-Dreifuss muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0009428 obsolete childhood hypophosphatasia 'obsolete childhood hypophosphatasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0009427 obsolete infantile hypophosphatasia 'obsolete infantile hypophosphatasia' SubClassOf http://www.w3.org/2002/07/owl#Thing 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 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'hypoparathyroidism-retardation-dysmorphism syndrome' SubClassOf 'autosomal recessive disease' 'hypoparathyroidism-retardation-dysmorphism syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'hypoparathyroidism-retardation-dysmorphism syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0009425 hypomandibular faciocranial dysostosis 'hypomandibular faciocranial dysostosis' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'hypomandibular faciocranial dysostosis' SubClassOf 'cranial malformation' http://purl.obolibrary.org/obo/MONDO_0010418 hereditary spastic paraplegia 34 'hereditary spastic paraplegia 34' SubClassOf 'X-linked pure spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0009420 primary hypergonadotropic hypogonadism-partial alopecia syndrome 'primary hypergonadotropic hypogonadism-partial alopecia syndrome' SubClassOf 'has modifier' some 'rare' 'primary hypergonadotropic hypogonadism-partial alopecia syndrome' SubClassOf 'male infertility' http://purl.obolibrary.org/obo/MONDO_0010417 syndromic X-linked intellectual disability Najm type 'syndromic X-linked intellectual disability Najm type' SubClassOf 'central nervous system malformation' 'syndromic X-linked intellectual disability Najm type' SubClassOf 'X-linked syndromic intellectual disability' 'syndromic X-linked intellectual disability Najm type' SubClassOf 'disease has major feature' some 'central nervous system malformation' 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' http://purl.obolibrary.org/obo/MONDO_0009437 Bamforth-Lazarus syndrome 'Bamforth-Lazarus syndrome' SubClassOf 'syndromic hypothyroidism' 'Bamforth-Lazarus syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'Bamforth-Lazarus syndrome' SubClassOf 'orofacial clefting syndrome' http://purl.obolibrary.org/obo/MONDO_0010425 Lisch epithelial corneal dystrophy 'Lisch epithelial corneal dystrophy' SubClassOf 'superficial corneal dystrophy' 'Lisch epithelial corneal dystrophy' SubClassOf 'epithelial and subepithelial corneal dystrophy' 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' 'hypospadias-intellectual disability, Goldblatt type syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'hypospadias-intellectual disability, Goldblatt type syndrome' SubClassOf 'syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0010426 X-linked endothelial corneal dystrophy 'X-linked endothelial corneal dystrophy' SubClassOf 'posterior corneal dystrophy' 'X-linked endothelial corneal dystrophy' SubClassOf 'corneal endothelial dystrophy' http://purl.obolibrary.org/obo/MONDO_0009431 hereditary hypophosphatemic rickets with hypercalciuria 'hereditary hypophosphatemic rickets with hypercalciuria' SubClassOf 'hereditary hypophosphatemic rickets' http://purl.obolibrary.org/obo/MONDO_0010428 chromosome Xp11.23-p11.22 duplication syndrome 'chromosome Xp11.23-p11.22 duplication syndrome' SubClassOf 'congenital nervous system disorder' 'chromosome Xp11.23-p11.22 duplication syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'chromosome Xp11.23-p11.22 duplication syndrome' SubClassOf 'epilepsy' 'chromosome Xp11.23-p11.22 duplication syndrome' SubClassOf 'syndromic intellectual disability' 'chromosome Xp11.23-p11.22 duplication syndrome' SubClassOf 'partial duplication of the short arm of chromosome X' 'chromosome Xp11.23-p11.22 duplication syndrome' SubClassOf 'genetic nervous system disorder' 'chromosome Xp11.23-p11.22 duplication syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0010421 Bruton-type agammaglobulinemia 'Bruton-type agammaglobulinemia' SubClassOf 'isolated agammaglobulinemia' http://purl.obolibrary.org/obo/MONDO_0009448 iminoglycinuria 'iminoglycinuria' SubClassOf 'disorder of neutral amino acid transport' http://purl.obolibrary.org/obo/MONDO_0009446 ichthyosis-intellectual disability-dwarfism-renal impairment syndrome 'ichthyosis-intellectual disability-dwarfism-renal impairment syndrome' SubClassOf 'syndromic renal or urinary tract malformation' 'ichthyosis-intellectual disability-dwarfism-renal impairment syndrome' SubClassOf 'autosomal ichthyosis syndrome' 'ichthyosis-intellectual disability-dwarfism-renal impairment syndrome' SubClassOf 'syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0009445 ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome 'ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome' SubClassOf 'autosomal ichthyosis syndrome' 'ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome' SubClassOf 'hereditary ataxia' http://purl.obolibrary.org/obo/MONDO_0009444 ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome 'ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome' SubClassOf 'genetic nervous system disorder' 'ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome' SubClassOf 'autosomal ichthyosis syndrome' 'ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0010437 severe X-linked mitochondrial encephalomyopathy 'severe X-linked mitochondrial encephalomyopathy' SubClassOf 'neurometabolic disease' 'severe X-linked mitochondrial encephalomyopathy' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0009443 autosomal recessive congenital ichthyosis 4B 'autosomal recessive congenital ichthyosis 4B' SubClassOf 'autosomal recessive congenital ichthyosis 4A' http://purl.obolibrary.org/obo/MONDO_0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive 'channelopathy-associated congenital insensitivity to pain, autosomal recessive' SubClassOf 'congenital nervous system disorder' 'channelopathy-associated congenital insensitivity to pain, autosomal recessive' SubClassOf 'autosomal recessive hereditary sensory and autonomic neuropathy' http://purl.obolibrary.org/obo/MONDO_0009458 Schimke immuno-osseous dysplasia 'Schimke immuno-osseous dysplasia' SubClassOf 'spondyloepiphyseal dysplasia' 'Schimke immuno-osseous dysplasia' SubClassOf 'immuno-osseous dysplasia' 'Schimke immuno-osseous dysplasia' SubClassOf 'primary glomerular disease' http://purl.obolibrary.org/obo/MONDO_0010446 X-linked cone dysfunction syndrome with myopia 'X-linked cone dysfunction syndrome with myopia' SubClassOf 'syndromic myopia' http://purl.obolibrary.org/obo/MONDO_0010448 moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome 'moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome' SubClassOf 'Moyamoya disease' 'moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0009452 Vici syndrome 'Vici syndrome' SubClassOf 'hypopigmentation of the skin' 'Vici syndrome' SubClassOf 'genetic skin disease' 'Vici syndrome' SubClassOf 'primary immunodeficiency due to a defect in adaptive immunity' 'Vici syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Vici syndrome' SubClassOf 'autosomal recessive disease' 'Vici syndrome' SubClassOf 'congenital nervous system disorder' 'Vici syndrome' SubClassOf 'genetic nervous system disorder' 'Vici syndrome' SubClassOf 'syndromic cataract' http://purl.obolibrary.org/obo/MONDO_0009451 Nezelof syndrome 'Nezelof syndrome' SubClassOf 'primary immunodeficiency due to a defect in adaptive immunity' 'Nezelof syndrome' SubClassOf 'congenital T-cell immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0009461 male infertility due to large-headed multiflagellar polyploid spermatozoa 'male infertility due to large-headed multiflagellar polyploid spermatozoa' SubClassOf 'azoospermia' 'male infertility due to large-headed multiflagellar polyploid spermatozoa' SubClassOf 'male infertility with teratozoospermia due to single gene mutation' http://purl.obolibrary.org/obo/MONDO_0010441 CK syndrome 'CK syndrome' SubClassOf 'genetic nervous system disorder' 'CK syndrome' SubClassOf 'disorder of development or morphogenesis' 'CK syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010444 X-linked dyserythropoetic anemia with abnormal platelets and neutropenia 'X-linked dyserythropoetic anemia with abnormal platelets and neutropenia' SubClassOf 'GATA1-Related X-Linked Cytopenia' 'X-linked dyserythropoetic anemia with abnormal platelets and neutropenia' SubClassOf 'isolated hereditary giant platelet disorder' 'X-linked dyserythropoetic anemia with abnormal platelets and neutropenia' SubClassOf 'congenital dyserythropoietic anemia' http://purl.obolibrary.org/obo/MONDO_0009469 benign recurrent intrahepatic cholestasis type 1 'benign recurrent intrahepatic cholestasis type 1' SubClassOf 'progressive familial intrahepatic cholestasis' 'benign recurrent intrahepatic cholestasis type 1' SubClassOf 'benign recurrent intrahepatic cholestasis' http://purl.obolibrary.org/obo/MONDO_0010457 Ogden syndrome 'Ogden syndrome' SubClassOf 'NAA10-related syndrome' 'Ogden syndrome' SubClassOf 'progeroid syndrome' http://purl.obolibrary.org/obo/MONDO_0009467 natal teeth-intestinal pseudoobstruction-patent ductus syndrome 'natal teeth-intestinal pseudoobstruction-patent ductus syndrome' SubClassOf 'disorder of development or morphogenesis' 'natal teeth-intestinal pseudoobstruction-patent ductus syndrome' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009465 multiple intestinal atresia 'multiple intestinal atresia' SubClassOf 'primary immunodeficiency due to a defect in adaptive immunity' 'multiple intestinal atresia' SubClassOf 'autosomal recessive disease' 'multiple intestinal atresia' SubClassOf 'non-syndromic intestinal malformation' http://purl.obolibrary.org/obo/MONDO_0010455 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia 'X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia' SubClassOf 'non-SCID combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0009479 Johanson-Blizzard syndrome 'Johanson-Blizzard syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Johanson-Blizzard syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic 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 'congenital nervous system disorder' 'Johanson-Blizzard syndrome' SubClassOf 'autosomal recessive disease' 'Johanson-Blizzard syndrome' SubClassOf 'syndromic intellectual disability' 'Johanson-Blizzard syndrome' SubClassOf 'syndromic genetic hearing loss' 'Johanson-Blizzard syndrome' SubClassOf 'syndromic hypothyroidism' http://purl.obolibrary.org/obo/MONDO_0009478 combined immunodeficiency due to DOCK8 deficiency 'combined immunodeficiency due to DOCK8 deficiency' SubClassOf 'non-SCID combined immunodeficiency' 'combined immunodeficiency due to DOCK8 deficiency' SubClassOf 'hyper-IgE syndrome' http://purl.obolibrary.org/obo/MONDO_0009476 atresia of small intestine 'atresia of small intestine' SubClassOf 'primary short bowel syndrome' 'atresia of small intestine' SubClassOf 'non-syndromic intestinal malformation' http://purl.obolibrary.org/obo/MONDO_0009475 isovaleric acidemia 'isovaleric acidemia' SubClassOf 'classic organic aciduria' http://purl.obolibrary.org/obo/MONDO_0009473 isotretinoin-like syndrome 'isotretinoin-like syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0009483 kapur-Toriello syndrome 'kapur-Toriello syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'kapur-Toriello syndrome' SubClassOf 'orofacial clefting 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' http://purl.obolibrary.org/obo/MONDO_0010460 syndromic X-linked intellectual disability 17 'syndromic X-linked intellectual disability 17' SubClassOf 'congenital nervous system disorder' 'syndromic X-linked intellectual disability 17' SubClassOf 'congenital alacrima' 'syndromic X-linked intellectual disability 17' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010463 X-linked dominant chondrodysplasia, Chassaing-Lacombe type 'X-linked dominant chondrodysplasia, Chassaing-Lacombe type' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009480 Joubert syndrome with oculorenal defect 'Joubert syndrome with oculorenal defect' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Joubert syndrome with oculorenal defect' SubClassOf 'Joubert syndrome and related disorders' 'Joubert syndrome with oculorenal defect' SubClassOf 'central nervous system malformation' 'Joubert syndrome with oculorenal defect' SubClassOf 'syndromic retinitis pigmentosa' http://purl.obolibrary.org/obo/MONDO_0010464 X-linked cerebral-cerebellar-coloboma syndrome syndrome 'X-linked cerebral-cerebellar-coloboma syndrome syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'X-linked cerebral-cerebellar-coloboma syndrome syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked cerebral-cerebellar-coloboma syndrome syndrome' SubClassOf 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0010467 Xq27.3q28 duplication syndrome 'Xq27.3q28 duplication syndrome' SubClassOf 'partial duplication of the long arm of chromosome X' http://purl.obolibrary.org/obo/MONDO_0010466 multiple congenital anomalies-hypotonia-seizures syndrome 2 'multiple congenital anomalies-hypotonia-seizures syndrome 2' SubClassOf 'neurometabolic disease' 'multiple congenital anomalies-hypotonia-seizures syndrome 2' SubClassOf 'multiple congenital anomalies-hypotonia-seizures syndrome' 'multiple congenital anomalies-hypotonia-seizures syndrome 2' SubClassOf 'developmental and epileptic encephalopathy' 'multiple congenital anomalies-hypotonia-seizures syndrome 2' SubClassOf 'inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' 'multiple congenital anomalies-hypotonia-seizures syndrome 2' SubClassOf 'syndromic dyslipidemia' 'multiple congenital anomalies-hypotonia-seizures syndrome 2' SubClassOf 'developmental anomaly of metabolic origin' http://purl.obolibrary.org/obo/MONDO_0010479 Charcot-Marie-Tooth disease X-linked dominant 6 'Charcot-Marie-Tooth disease X-linked dominant 6' SubClassOf 'Charcot-Marie-Tooth disease type X' http://purl.obolibrary.org/obo/MONDO_0009489 hereditary palmoplantar keratoderma, Gamborg-Nielsen type 'hereditary palmoplantar keratoderma, Gamborg-Nielsen type' SubClassOf 'autosomal recessive isolated diffuse palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0009486 autosomal recessive Kenny-Caffey syndrome 'autosomal recessive Kenny-Caffey syndrome' SubClassOf 'Kenny-Caffey syndrome' 'autosomal recessive Kenny-Caffey syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0009485 oculocerebrofacial syndrome, Kaufman type 'oculocerebrofacial syndrome, Kaufman type' SubClassOf 'developmental defect of the eye' 'oculocerebrofacial syndrome, Kaufman type' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'oculocerebrofacial syndrome, Kaufman type' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'oculocerebrofacial syndrome, Kaufman type' SubClassOf 'genetic nervous system disorder' 'oculocerebrofacial syndrome, Kaufman type' SubClassOf 'congenital nervous system disorder' 'oculocerebrofacial syndrome, Kaufman type' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010472 developmental and epileptic encephalopathy, 36 'developmental and epileptic encephalopathy, 36' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 36' SubClassOf 'disorder of protein N-glycosylation' 'developmental and epileptic encephalopathy, 36' SubClassOf 'congenital disorder of glycosylation type I' 'developmental and epileptic encephalopathy, 36' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0009493 Richards-Rundle syndrome 'Richards-Rundle syndrome' SubClassOf 'syndromic genetic hearing loss' 'Richards-Rundle syndrome' SubClassOf 'hereditary ataxia' http://purl.obolibrary.org/obo/MONDO_0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency 'succinyl-CoA:3-ketoacid CoA transferase deficiency' SubClassOf 'inborn disorder of ketolysis' http://purl.obolibrary.org/obo/MONDO_0009491 Haim-Munk syndrome 'Haim-Munk syndrome' SubClassOf 'disorder of lysosomal-related organelles' 'Haim-Munk syndrome' SubClassOf 'diffuse palmoplantar keratoderma' 'Haim-Munk syndrome' SubClassOf 'autosomal recessive disease' 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' http://purl.obolibrary.org/obo/MONDO_0009490 Papillon-Lefevre disease 'Papillon-Lefevre disease' SubClassOf 'ectodermal dysplasia syndrome' 'Papillon-Lefevre disease' SubClassOf 'diffuse palmoplantar keratoderma' 'Papillon-Lefevre disease' SubClassOf 'periodontal disorder' 'Papillon-Lefevre disease' SubClassOf 'disorder of lysosomal-related organelles' 'Papillon-Lefevre disease' SubClassOf 'functional neutrophil defect' 'Papillon-Lefevre disease' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0010476 neurodegeneration with brain iron accumulation 5 'neurodegeneration with brain iron accumulation 5' SubClassOf 'neurodegeneration with brain iron accumulation' http://purl.obolibrary.org/obo/MONDO_0010475 X-linked central congenital hypothyroidism with late-onset testicular enlargement 'X-linked central congenital hypothyroidism with late-onset testicular enlargement' SubClassOf 'central congenital hypothyroidism' 'X-linked central congenital hypothyroidism with late-onset testicular enlargement' SubClassOf 'syndromic hypothyroidism' 'X-linked central congenital hypothyroidism with late-onset testicular enlargement' SubClassOf 'X-linked disease' http://purl.obolibrary.org/obo/MONDO_0010478 SLC35A2-CDG 'SLC35A2-CDG' SubClassOf 'congenital disorder of glycosylation type II' 'SLC35A2-CDG' SubClassOf 'developmental anomaly of metabolic origin' 'SLC35A2-CDG' SubClassOf 'neurometabolic disease' 'SLC35A2-CDG' SubClassOf 'congenital nervous system disorder' 'SLC35A2-CDG' SubClassOf 'disorder of multiple glycosylation' http://purl.obolibrary.org/obo/MONDO_0010477 blepharophimosis - intellectual disability syndrome, MKB type 'blepharophimosis - intellectual disability syndrome, MKB type' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'blepharophimosis - intellectual disability syndrome, MKB type' SubClassOf 'Ohdo syndrome and variants' 'blepharophimosis - intellectual disability syndrome, MKB type' SubClassOf 'MED12-related intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0009499 Krabbe disease 'Krabbe disease' SubClassOf 'leukodystrophy' 'Krabbe disease' SubClassOf 'genetic peripheral neuropathy' 'Krabbe disease' SubClassOf 'sphingolipidosis' 'Krabbe disease' SubClassOf 'eye degenerative disorder' 'Krabbe disease' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0009498 lethal Kniest-like dysplasia 'lethal Kniest-like dysplasia' SubClassOf 'lethal chondrodysplasia' http://purl.obolibrary.org/obo/MONDO_0009495 Keutel syndrome 'Keutel syndrome' SubClassOf 'congenital nervous system disorder' 'Keutel syndrome' SubClassOf 'syndromic intellectual disability' 'Keutel syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Keutel syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Keutel syndrome' SubClassOf 'genetic nervous system disorder' 'Keutel syndrome' SubClassOf 'dysostosis of genetic origin' 'Keutel syndrome' SubClassOf 'chondrodysplasia punctata' 'Keutel syndrome' SubClassOf 'congenital limb malformation' 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' http://purl.obolibrary.org/obo/MONDO_0010482 X-linked parkinsonism-spasticity syndrome 'X-linked parkinsonism-spasticity syndrome' SubClassOf 'ATP6AP2-related disorder' 'X-linked parkinsonism-spasticity syndrome' SubClassOf 'parkinsonian disorder' http://purl.obolibrary.org/obo/MONDO_0010498 MEND syndrome 'MEND syndrome' SubClassOf 'syndromic intellectual disability' 'MEND syndrome' SubClassOf 'sterol biosynthesis disorder' 'MEND syndrome' SubClassOf 'syndromic dyslipidemia' 'MEND syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0010490 SSR4-CDG 'SSR4-CDG' SubClassOf 'congenital disorder of glycosylation type I' 'SSR4-CDG' SubClassOf 'congenital nervous system disorder' 'SSR4-CDG' SubClassOf 'neurometabolic disease' 'SSR4-CDG' SubClassOf 'disorder of protein N-glycosylation' 'SSR4-CDG' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'SSR4-CDG' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'SSR4-CDG' SubClassOf 'developmental anomaly of metabolic origin' http://purl.obolibrary.org/obo/MONDO_0000903 myoclonus-dystonia syndrome 'myoclonus-dystonia syndrome' SubClassOf 'persistent combined dystonia' 'myoclonus-dystonia syndrome' SubClassOf 'primary myoclonus' http://purl.obolibrary.org/obo/MONDO_0000902 agenesis of the corpus callosum with peripheral neuropathy 'agenesis of the corpus callosum with peripheral neuropathy' SubClassOf 'disorder of development or morphogenesis' 'agenesis of the corpus callosum with peripheral neuropathy' SubClassOf 'bulbospinal muscular atrophy' 'agenesis of the corpus callosum with peripheral neuropathy' SubClassOf 'hereditary motor neuron disease' http://purl.obolibrary.org/obo/MONDO_0012907 blindness - scoliosis - arachnodactyly syndrome 'blindness - scoliosis - arachnodactyly syndrome' SubClassOf 'developmental defect during embryogenesis' 'blindness - scoliosis - arachnodactyly syndrome' SubClassOf 'eye disease' 'blindness - scoliosis - arachnodactyly syndrome' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0012901 inherited prekallikrein deficiency 'inherited prekallikrein deficiency' SubClassOf 'coagulation protein disease' 'inherited prekallikrein deficiency' EquivalentTo 'prekallikrein deficiency' and ('has modifier' some 'inherited') 'inherited prekallikrein deficiency' SubClassOf 'inherited blood coagulation disorder' 'inherited prekallikrein deficiency' SubClassOf 'hemorrhagic disease' 'inherited prekallikrein deficiency' SubClassOf 'prekallikrein deficiency' http://purl.obolibrary.org/obo/MONDO_0012905 hypomyelinating leukodystrophy 6 'hypomyelinating leukodystrophy 6' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0012912 pseudopseudohypoparathyroidism 'pseudopseudohypoparathyroidism' SubClassOf 'acromelic dysplasia' 'pseudopseudohypoparathyroidism' SubClassOf 'genetic skin disease' 'pseudopseudohypoparathyroidism' SubClassOf 'dermis disorder' 'pseudopseudohypoparathyroidism' SubClassOf 'pseudohypoparathyroidism' 'pseudopseudohypoparathyroidism' SubClassOf 'syndromic genetic obesity' http://purl.obolibrary.org/obo/MONDO_0012911 pseudohypoparathyroidism type 1C 'pseudohypoparathyroidism type 1C' SubClassOf 'pseudohypoparathyroidism' 'pseudohypoparathyroidism type 1C' SubClassOf 'avascular necrosis of genetic origin' 'pseudohypoparathyroidism type 1C' SubClassOf 'primary avascular necrosis' 'pseudohypoparathyroidism type 1C' SubClassOf 'acromelic dysplasia' 'pseudohypoparathyroidism type 1C' SubClassOf 'syndromic genetic obesity' 'pseudohypoparathyroidism type 1C' SubClassOf 'genetic skin disease' 'pseudohypoparathyroidism type 1C' SubClassOf 'dermis disorder' http://purl.obolibrary.org/obo/MONDO_0012916 chromosome 2p16.1-p15 deletion syndrome 'chromosome 2p16.1-p15 deletion syndrome' SubClassOf 'partial deletion of the short arm of chromosome 2' http://purl.obolibrary.org/obo/MONDO_0012914 chromosome 1q21.1 deletion syndrome 'chromosome 1q21.1 deletion syndrome' SubClassOf 'chromosome 1q deletion' http://purl.obolibrary.org/obo/MONDO_0012915 chromosome 1q21.1 duplication syndrome 'chromosome 1q21.1 duplication syndrome' SubClassOf 'partial duplication of the long arm of chromosome 1' http://purl.obolibrary.org/obo/MONDO_0012929 Compton-North congenital myopathy 'Compton-North congenital myopathy' SubClassOf 'congenital myopathy' 'Compton-North congenital myopathy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012927 chromosome 1q41-q42 deletion syndrome 'chromosome 1q41-q42 deletion syndrome' SubClassOf 'holoprosencephaly' 'chromosome 1q41-q42 deletion syndrome' SubClassOf 'chromosome 1q deletion' http://purl.obolibrary.org/obo/MONDO_0012928 hereditary spastic paraplegia 42 'hereditary spastic paraplegia 42' SubClassOf 'autosomal dominant pure spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency 'autosomal recessive severe congenital neutropenia due to G6PC3 deficiency' SubClassOf 'autosomal recessive severe congenital neutropenia' 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 'partial deletion of the short arm of chromosome 6' 'chromosome 6pter-p24 deletion syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'chromosome 6pter-p24 deletion syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'chromosome 6pter-p24 deletion syndrome' SubClassOf 'genetic nervous system disorder' 'chromosome 6pter-p24 deletion syndrome' SubClassOf 'iridogoniodysgenesis' 'chromosome 6pter-p24 deletion syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0012941 inflammatory bowel disease 25 'inflammatory bowel disease 25' SubClassOf 'immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome' http://purl.obolibrary.org/obo/MONDO_0009306 combined immunodeficiency with skin granulomas 'combined immunodeficiency with skin granulomas' SubClassOf 'genetic skin disease' 'combined immunodeficiency with skin granulomas' SubClassOf 'T-B- severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0009302 XY type gonadal dysgenesis-associated anomalies syndrome 'XY type gonadal dysgenesis-associated anomalies syndrome' SubClassOf '46,XY disorder of sex development' http://purl.obolibrary.org/obo/MONDO_0009319 pantothenate kinase-associated neurodegeneration 'pantothenate kinase-associated neurodegeneration' SubClassOf 'syndromic retinitis pigmentosa' 'pantothenate kinase-associated neurodegeneration' SubClassOf 'eye degenerative disorder' 'pantothenate kinase-associated neurodegeneration' SubClassOf 'syndromic dyslipidemia' 'pantothenate kinase-associated neurodegeneration' SubClassOf 'disorder of phospholipids, sphingolipids and fatty acids biosynthesis' 'pantothenate kinase-associated neurodegeneration' SubClassOf 'neuroacanthocytosis' 'pantothenate kinase-associated neurodegeneration' SubClassOf 'neurodegeneration with brain iron accumulation' 'pantothenate kinase-associated neurodegeneration' SubClassOf 'disorder of other vitamins and cofactors metabolism and transport' http://purl.obolibrary.org/obo/MONDO_0009318 Hallermann-Streiff syndrome 'Hallermann-Streiff syndrome' SubClassOf 'premature aging syndrome' 'Hallermann-Streiff syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009316 hair defect-photosensitivity-intellectual disability syndrome 'hair defect-photosensitivity-intellectual disability syndrome' SubClassOf 'syndromic hair shaft abnormality' 'hair defect-photosensitivity-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'hair defect-photosensitivity-intellectual disability syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0009315 congenital factor XII deficiency 'congenital factor XII deficiency' SubClassOf 'congenital hematological disorder' 'congenital factor XII deficiency' SubClassOf 'inherited blood coagulation disorder' 'congenital factor XII deficiency' SubClassOf 'autosomal genetic disease' 'congenital factor XII deficiency' SubClassOf 'coagulation protein disease' 'congenital factor XII deficiency' SubClassOf 'hemorrhagic disease' http://purl.obolibrary.org/obo/MONDO_0012967 hemolytic anemia due to adenylate kinase deficiency 'hemolytic anemia due to adenylate kinase deficiency' SubClassOf 'familial hemolytic anemia' http://purl.obolibrary.org/obo/MONDO_0009313 Grubben-de Cock-Borghgraef syndrome 'Grubben-de Cock-Borghgraef syndrome' SubClassOf 'has modifier' some 'rare' 'Grubben-de Cock-Borghgraef syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010306 X-linked intellectual disability, Cabezas type 'X-linked intellectual disability, Cabezas type' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'X-linked intellectual disability, Cabezas type' SubClassOf 'congenital nervous system disorder' 'X-linked intellectual disability, Cabezas type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Cabezas type' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009312 lipodystrophy due to peptidic growth factors deficiency 'lipodystrophy due to peptidic growth factors deficiency' SubClassOf 'genetic lipodystrophy' http://purl.obolibrary.org/obo/MONDO_0010305 creatine transporter deficiency 'creatine transporter deficiency' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'creatine transporter deficiency' SubClassOf 'neurometabolic disease' 'creatine transporter deficiency' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'creatine transporter deficiency' SubClassOf 'cerebral creatine deficiency syndrome' 'creatine transporter deficiency' SubClassOf 'developmental anomaly of metabolic origin' 'creatine transporter deficiency' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0012964 chromosome 15q26-qter deletion syndrome 'chromosome 15q26-qter deletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 15' http://purl.obolibrary.org/obo/MONDO_0010302 Ito hypomelanosis 'Ito hypomelanosis' SubClassOf 'hypopigmentation of the skin' 'Ito hypomelanosis' SubClassOf 'eye disease' 'Ito hypomelanosis' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0009329 pulmonary venoocclusive disease 2 'pulmonary venoocclusive disease 2' SubClassOf 'pulmonary venoocclusive disease' http://purl.obolibrary.org/obo/MONDO_0009326 congenital heart block 'congenital heart block' SubClassOf 'has modifier' some 'congenital' 'congenital heart block' SubClassOf 'atrioventricular block' 'congenital heart block' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009325 obsolete deafness-enamel hypoplasia-nail defects syndrome 'obsolete deafness-enamel hypoplasia-nail defects syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0009324 Hartnup disease 'Hartnup disease' SubClassOf 'neurometabolic disease' 'Hartnup disease' SubClassOf 'hereditary photodermatosis' 'Hartnup disease' SubClassOf 'cerebral organic aciduria' 'Hartnup disease' SubClassOf 'inherited amino acid metabolic disorder' 'Hartnup disease' SubClassOf 'nephropathy secondary to a storage or other metabolic disease' 'Hartnup disease' SubClassOf 'disorder of neutral amino acid transport' http://purl.obolibrary.org/obo/MONDO_0010319 syndromic X-linked intellectual disability Hedera type 'syndromic X-linked intellectual disability Hedera type' SubClassOf 'ATP6AP2-related disorder' 'syndromic X-linked intellectual disability Hedera type' SubClassOf 'X-linked intellectual disability-epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0009321 hallux varus-preaxial polysyndactyly syndrome 'hallux varus-preaxial polysyndactyly syndrome' SubClassOf 'congenital limb malformation' http://purl.obolibrary.org/obo/MONDO_0009320 Hall-Riggs syndrome 'Hall-Riggs syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Hall-Riggs syndrome' SubClassOf 'syndromic intellectual disability' 'Hall-Riggs syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0010311 Becker muscular dystrophy 'Becker muscular dystrophy' SubClassOf 'Duchenne and Becker muscular dystrophy' 'Becker muscular dystrophy' SubClassOf 'dilated cardiomyopathy 3B' http://purl.obolibrary.org/obo/MONDO_0010310 osteopathia striata with cranial sclerosis 'osteopathia striata with cranial sclerosis' SubClassOf 'osteopetrosis' http://purl.obolibrary.org/obo/MONDO_0009339 congenital bile acid synthesis defect 2 'congenital bile acid synthesis defect 2' SubClassOf 'Congenital bile acid synthesis defect' 'congenital bile acid synthesis defect 2' SubClassOf 'has modifier' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0009338 hepatic veno-occlusive disease-immunodeficiency syndrome 'hepatic veno-occlusive disease-immunodeficiency syndrome' SubClassOf 'hepatic veno-occlusive disease' 'hepatic veno-occlusive disease-immunodeficiency syndrome' SubClassOf 'primary immunodeficiency due to a defect in adaptive immunity' 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' http://purl.obolibrary.org/obo/MONDO_0010328 alpha-thalassemia-myelodysplastic syndrome 'alpha-thalassemia-myelodysplastic syndrome' SubClassOf 'inherited hemoglobinopathy' 'alpha-thalassemia-myelodysplastic syndrome' SubClassOf 'alpha-thalassemia-related diseases' http://purl.obolibrary.org/obo/MONDO_0010327 HSD10 mitochondrial disease 'HSD10 mitochondrial disease' SubClassOf 'neurometabolic disease' 'HSD10 mitochondrial disease' SubClassOf 'cerebral organic aciduria' 'HSD10 mitochondrial disease' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009333 mullerian derivatives-lymphangiectasia-polydactyly syndrome 'mullerian derivatives-lymphangiectasia-polydactyly syndrome' SubClassOf 'syndromic lymphedema' 'mullerian derivatives-lymphangiectasia-polydactyly syndrome' SubClassOf 'primary lymphedema' http://purl.obolibrary.org/obo/MONDO_0009331 isolated hemihyperplasia 'isolated hemihyperplasia' SubClassOf 'overgrowth syndrome' http://purl.obolibrary.org/obo/MONDO_0009340 non-spherocytic hemolytic anemia due to hexokinase deficiency 'non-spherocytic hemolytic anemia due to hexokinase deficiency' SubClassOf 'anemia due to erythrocyte enzyme disorder' 'non-spherocytic hemolytic anemia due to hexokinase deficiency' SubClassOf 'familial hemolytic anemia' http://purl.obolibrary.org/obo/MONDO_0012982 episodic ataxia type 6 'episodic ataxia type 6' SubClassOf 'hereditary episodic ataxia' http://purl.obolibrary.org/obo/MONDO_0012980 endocrine-cerebro-osteodysplasia syndrome 'endocrine-cerebro-osteodysplasia syndrome' SubClassOf 'genetic lethal multiple congenital anomalies/dysmorphic syndrome' 'endocrine-cerebro-osteodysplasia syndrome' SubClassOf 'dysostosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0012986 bilateral parasagittal parieto-occipital polymicrogyria 'bilateral parasagittal parieto-occipital polymicrogyria' SubClassOf 'genetic nervous system disorder' 'bilateral parasagittal parieto-occipital polymicrogyria' SubClassOf 'bilateral polymicrogyria' http://purl.obolibrary.org/obo/MONDO_0010323 Atkin-Flaitz syndrome 'Atkin-Flaitz syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Atkin-Flaitz syndrome' SubClassOf 'congenital nervous system disorder' 'Atkin-Flaitz syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Atkin-Flaitz syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0012984 PHARC syndrome 'PHARC syndrome' SubClassOf 'autosomal recessive disease' 'PHARC syndrome' SubClassOf 'developmental anomaly of metabolic origin' 'PHARC syndrome' SubClassOf 'syndromic genetic hearing loss' 'PHARC syndrome' SubClassOf 'genetic peripheral neuropathy' 'PHARC syndrome' SubClassOf 'syndromic retinitis pigmentosa' 'PHARC syndrome' SubClassOf 'disorder of phospholipids, sphingolipids and fatty acids biosynthesis' 'PHARC syndrome' SubClassOf 'syndromic dyslipidemia' http://purl.obolibrary.org/obo/MONDO_0010337 X-linked intellectual disability-cerebellar hypoplasia syndrome 'X-linked intellectual disability-cerebellar hypoplasia syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'X-linked intellectual disability-cerebellar hypoplasia syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability-cerebellar hypoplasia syndrome' SubClassOf 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0010336 orofaciodigital syndrome VIII 'orofaciodigital syndrome VIII' SubClassOf 'syndromic genetic hearing loss' 'orofaciodigital syndrome VIII' SubClassOf 'orofaciodigital syndrome' http://purl.obolibrary.org/obo/MONDO_0010339 X-linked epilepsy-learning disabilities-behavior disorders syndrome 'X-linked epilepsy-learning disabilities-behavior disorders syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked epilepsy-learning disabilities-behavior disorders syndrome' SubClassOf 'monogenic epilepsy' http://purl.obolibrary.org/obo/MONDO_0009345 histidinemia 'histidinemia' SubClassOf 'inborn disorder of histidine metabolism' http://purl.obolibrary.org/obo/MONDO_0010338 X-linked distal spinal muscular atrophy type 3 'X-linked distal spinal muscular atrophy type 3' SubClassOf 'X-linked distal hereditary motor neuropathy' 'X-linked distal spinal muscular atrophy type 3' SubClassOf 'spinal muscular atrophy' http://purl.obolibrary.org/obo/MONDO_0012999 guanidinoacetate methyltransferase deficiency 'guanidinoacetate methyltransferase deficiency' SubClassOf 'cerebral creatine deficiency syndrome' 'guanidinoacetate methyltransferase deficiency' SubClassOf 'neurometabolic disease' 'guanidinoacetate methyltransferase deficiency' SubClassOf 'creatine biosynthetic process disease' http://purl.obolibrary.org/obo/MONDO_0009344 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome 'Hirschsprung disease-nail hypoplasia-dysmorphism syndrome' SubClassOf 'intestinal motility disease' 'Hirschsprung disease-nail hypoplasia-dysmorphism syndrome' SubClassOf 'syndromic nail anomaly' 'Hirschsprung disease-nail hypoplasia-dysmorphism syndrome' SubClassOf 'syndromic anorectal malformation' http://purl.obolibrary.org/obo/MONDO_0009342 Hirschsprung disease-hearing loss-polydactyly syndrome 'Hirschsprung disease-hearing loss-polydactyly syndrome' SubClassOf 'syndromic anorectal malformation' 'Hirschsprung disease-hearing loss-polydactyly syndrome' SubClassOf 'congenital nervous system disorder' 'Hirschsprung disease-hearing loss-polydactyly syndrome' SubClassOf 'syndromic genetic hearing loss' 'Hirschsprung disease-hearing loss-polydactyly syndrome' SubClassOf 'intestinal motility disease' 'Hirschsprung disease-hearing loss-polydactyly syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009341 Mowat-Wilson syndrome 'Mowat-Wilson syndrome' SubClassOf 'congenital nervous system disorder' 'Mowat-Wilson syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Mowat-Wilson syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Mowat-Wilson syndrome' SubClassOf 'syndromic intellectual disability' 'Mowat-Wilson syndrome' SubClassOf 'genetic nervous system disorder' 'Mowat-Wilson syndrome' SubClassOf 'monogenic epilepsy' 'Mowat-Wilson syndrome' SubClassOf 'syndromic intestinal malformation' http://purl.obolibrary.org/obo/MONDO_0009351 homocarnosinosis 'homocarnosinosis' SubClassOf 'gamma-amino butyric acid metabolism disorder' 'homocarnosinosis' SubClassOf 'inborn disorder of peptide metabolism' http://purl.obolibrary.org/obo/MONDO_0012992 pancreatic insufficiency-anemia-hyperostosis syndrome 'pancreatic insufficiency-anemia-hyperostosis syndrome' SubClassOf 'primary bone dysplasia' 'pancreatic insufficiency-anemia-hyperostosis syndrome' SubClassOf 'exocrine pancreatic insufficiency' 'pancreatic insufficiency-anemia-hyperostosis syndrome' SubClassOf 'cytochrome-c oxidase deficiency disease' 'pancreatic insufficiency-anemia-hyperostosis syndrome' SubClassOf 'congenital dyserythropoietic anemia' http://purl.obolibrary.org/obo/MONDO_0009350 Holzgreve-Wagner-Rehder syndrome 'Holzgreve-Wagner-Rehder syndrome' SubClassOf 'orofacial clefting syndrome' 'Holzgreve-Wagner-Rehder syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Holzgreve-Wagner-Rehder syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'Holzgreve-Wagner-Rehder syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010333 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 'corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome' SubClassOf 'developmental defect of the eye' 'corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome' SubClassOf 'congenital nervous system disorder' 'corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0012996 AGAT deficiency 'AGAT deficiency' SubClassOf 'cerebral creatine deficiency syndrome' 'AGAT deficiency' SubClassOf 'neurometabolic disease' 'AGAT deficiency' SubClassOf 'creatine biosynthetic process disease' http://purl.obolibrary.org/obo/MONDO_0010332 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome 'X-linked intellectual disability-cubitus valgus-dysmorphism syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability-cubitus valgus-dysmorphism syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability-cubitus valgus-dysmorphism syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'X-linked intellectual disability-cubitus valgus-dysmorphism syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency 'dopa-responsive dystonia due to sepiapterin reductase deficiency' SubClassOf 'disorder of pterin metabolism' 'dopa-responsive dystonia due to sepiapterin reductase deficiency' SubClassOf 'tetrahydrobiopterin metabolic process disease' 'dopa-responsive dystonia due to sepiapterin reductase deficiency' SubClassOf 'cerebral organic aciduria' 'dopa-responsive dystonia due to sepiapterin reductase deficiency' SubClassOf 'dopa-responsive dystonia' 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 genetic hearing loss' 'severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome' SubClassOf 'syndrome caused by partial chromosomal deletion' 'severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome' SubClassOf 'inherited dystonia' 'severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009354 methylcobalamin deficiency type cblE 'methylcobalamin deficiency type cblE' SubClassOf 'homocystinuria without methylmalonic aciduria' http://purl.obolibrary.org/obo/MONDO_0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency 'homocystinuria due to methylene tetrahydrofolate reductase deficiency' SubClassOf 'homocystinuria' 'homocystinuria due to methylene tetrahydrofolate reductase deficiency' SubClassOf 'genetic peripheral neuropathy' 'homocystinuria due to methylene tetrahydrofolate reductase deficiency' SubClassOf 'disorder of folate metabolism and transport' http://purl.obolibrary.org/obo/MONDO_0009352 classic homocystinuria 'classic homocystinuria' SubClassOf 'homocystinuria' 'classic homocystinuria' SubClassOf 'cerebral organic aciduria' 'classic homocystinuria' SubClassOf 'developmental anomaly of metabolic origin' 'classic homocystinuria' SubClassOf 'neurometabolic disease' 'classic homocystinuria' SubClassOf 'lens position anomaly' http://purl.obolibrary.org/obo/MONDO_0009362 growth delay-hydrocephaly-lung hypoplasia syndrome 'growth delay-hydrocephaly-lung hypoplasia syndrome' SubClassOf 'respiratory malformation' 'growth delay-hydrocephaly-lung hypoplasia syndrome' SubClassOf 'syndromic respiratory or mediastinal malformation' http://purl.obolibrary.org/obo/MONDO_0010359 Dent disease type 2 'Dent disease type 2' SubClassOf 'Dent disease' http://purl.obolibrary.org/obo/MONDO_0009367 McKusick-Kaufman syndrome 'McKusick-Kaufman syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009363 hydrocephaly-tall stature-joint laxity syndrome 'hydrocephaly-tall stature-joint laxity syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009373 seizures-intellectual disability due to hydroxylysinuria syndrome 'seizures-intellectual disability due to hydroxylysinuria syndrome' SubClassOf 'inborn disorder of lysine and hydroxylysine metabolism' http://purl.obolibrary.org/obo/MONDO_0009372 encephalopathy due to hydroxykynureninuria 'encephalopathy due to hydroxykynureninuria' SubClassOf 'inborn disorder of tryptophan metabolism' 'encephalopathy due to hydroxykynureninuria' SubClassOf 'cerebral organic aciduria' 'encephalopathy due to hydroxykynureninuria' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0009371 3-hydroxyisobutyric aciduria '3-hydroxyisobutyric aciduria' SubClassOf 'valine metabolism disease' '3-hydroxyisobutyric aciduria' SubClassOf 'inherited amino acid metabolic disorder' '3-hydroxyisobutyric aciduria' SubClassOf 'classic organic aciduria' http://purl.obolibrary.org/obo/MONDO_0010353 deafness-intellectual disability, Martin-Probst type syndrome 'deafness-intellectual disability, Martin-Probst type syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'deafness-intellectual disability, Martin-Probst type syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'deafness-intellectual disability, Martin-Probst type syndrome' SubClassOf 'syndromic genetic hearing loss' 'deafness-intellectual disability, Martin-Probst type syndrome' SubClassOf 'congenital nervous system disorder' 'deafness-intellectual disability, Martin-Probst type syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'deafness-intellectual disability, Martin-Probst type syndrome' SubClassOf 'X-linked deafness' http://purl.obolibrary.org/obo/MONDO_0009370 L-2-hydroxyglutaric aciduria 'L-2-hydroxyglutaric aciduria' SubClassOf '2-hydroxyglutaric aciduria' 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 'congenital nervous system disorder' 'syndromic X-linked intellectual disability Claes-Jensen type' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'syndromic X-linked intellectual disability Claes-Jensen type' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0010354 Allan-Herndon-Dudley syndrome 'Allan-Herndon-Dudley syndrome' SubClassOf 'complex hereditary spastic paraplegia' 'Allan-Herndon-Dudley syndrome' SubClassOf 'pure or complex X-linked spastic paraplegia' 'Allan-Herndon-Dudley syndrome' SubClassOf 'syndromic hypothyroidism' 'Allan-Herndon-Dudley syndrome' SubClassOf 'congenital nervous system disorder' 'Allan-Herndon-Dudley syndrome' SubClassOf 'Pelizaeus-Merzbacher-like disease' 'Allan-Herndon-Dudley syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Allan-Herndon-Dudley syndrome' SubClassOf 'peripheral hypothyroidism' http://purl.obolibrary.org/obo/MONDO_0010356 nephrogenic syndrome of inappropriate antidiuresis 'nephrogenic syndrome of inappropriate antidiuresis' SubClassOf 'inherited renal tubular disease' http://purl.obolibrary.org/obo/MONDO_0009379 Rotor syndrome 'Rotor syndrome' SubClassOf 'hereditary hyperbilirubinemia' 'Rotor syndrome' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009378 hyper-beta-alaninemia 'hyper-beta-alaninemia' SubClassOf 'inborn disorder of pyrimidine metabolism' http://purl.obolibrary.org/obo/MONDO_0009377 hyperammonemia due to N-acetylglutamate synthase deficiency 'hyperammonemia due to N-acetylglutamate synthase deficiency' SubClassOf 'urea cycle disorder' http://purl.obolibrary.org/obo/MONDO_0010362 glycogen storage disease IXd 'glycogen storage disease IXd' SubClassOf 'glycogen storage disease' 'glycogen storage disease IXd' SubClassOf 'muscular glycogenosis' http://purl.obolibrary.org/obo/MONDO_0009383 transient familial neonatal hyperbilirubinemia 'transient familial neonatal hyperbilirubinemia' SubClassOf 'hereditary hyperbilirubinemia' 'transient familial neonatal hyperbilirubinemia' SubClassOf 'liver disease' 'transient familial neonatal hyperbilirubinemia' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0010364 X-linked intellectual disability-retinitis pigmentosa syndrome 'X-linked intellectual disability-retinitis pigmentosa syndrome' SubClassOf 'partial monosomy of the short arm of chromosome X' 'X-linked intellectual disability-retinitis pigmentosa syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009380 Dubin-Johnson syndrome 'Dubin-Johnson syndrome' SubClassOf 'syndromic disease' 'Dubin-Johnson syndrome' SubClassOf 'has modifier' some 'rare' 'Dubin-Johnson syndrome' SubClassOf 'hereditary hyperbilirubinemia' http://purl.obolibrary.org/obo/MONDO_0010367 SHOX-related short stature 'SHOX-related short stature' SubClassOf 'mesomelic and rhizo-mesomelic dysplasia' http://purl.obolibrary.org/obo/MONDO_0009388 hyperlysinemia 'hyperlysinemia' SubClassOf 'inborn disorder of lysine and hydroxylysine metabolism' http://purl.obolibrary.org/obo/MONDO_0009387 familial lipoprotein lipase deficiency 'familial lipoprotein lipase deficiency' SubClassOf 'familial chylomicronemia syndrome' 'familial lipoprotein lipase deficiency' SubClassOf 'familial hyperlipidemia' 'familial lipoprotein lipase deficiency' SubClassOf 'hyperlipoproteinemia' http://purl.obolibrary.org/obo/MONDO_0009395 hyperostosis corticalis generalisata 'hyperostosis corticalis generalisata' SubClassOf 'hyperostosis' 'hyperostosis corticalis generalisata' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009394 juvenile Paget disease 'juvenile Paget disease' SubClassOf 'osteitis deformans' http://purl.obolibrary.org/obo/MONDO_0009393 ornithine translocase deficiency 'ornithine translocase deficiency' SubClassOf 'urea cycle disorder' 'ornithine translocase deficiency' SubClassOf 'syndromic disease' 'ornithine translocase deficiency' SubClassOf 'infectious disease' http://purl.obolibrary.org/obo/MONDO_0010375 developmental and epileptic encephalopathy, 8 'developmental and epileptic encephalopathy, 8' SubClassOf 'syndromic dyslipidemia' 'developmental and epileptic encephalopathy, 8' SubClassOf 'X-linked intellectual disability-epilepsy syndrome' 'developmental and epileptic encephalopathy, 8' SubClassOf 'hereditary hyperekplexia' 'developmental and epileptic encephalopathy, 8' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 8' SubClassOf 'X-linked complex neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0010379 Brunner syndrome 'Brunner syndrome' SubClassOf 'cerebral organic aciduria' 'Brunner syndrome' SubClassOf 'neurometabolic disease' 'Brunner syndrome' SubClassOf 'X-linked recessive disease' 'Brunner syndrome' SubClassOf 'inborn disorder of neurotransmitter metabolism and transport' 'Brunner syndrome' SubClassOf 'inherited amino acid metabolic disorder' http://purl.obolibrary.org/obo/MONDO_0010378 X-linked hereditary sensory and autonomic neuropathy with hearing loss 'X-linked hereditary sensory and autonomic neuropathy with hearing loss' SubClassOf 'hereditary sensory and autonomic neuropathy' 'X-linked hereditary sensory and autonomic neuropathy with hearing loss' SubClassOf 'X-linked nonsyndromic hearing loss' 'X-linked hereditary sensory and autonomic neuropathy with hearing loss' SubClassOf 'auditory neuropathy' http://purl.obolibrary.org/obo/MONDO_0010371 Aland island eye disease 'Aland island eye disease' SubClassOf 'genetic nervous system disorder' 'Aland island eye disease' SubClassOf 'retinopathy' 'Aland island eye disease' SubClassOf 'X-linked disease' http://purl.obolibrary.org/obo/MONDO_0009397 neonatal severe primary hyperparathyroidism 'neonatal severe primary hyperparathyroidism' SubClassOf 'familial primary hyperparathyroidism' http://purl.obolibrary.org/obo/MONDO_0010383 fragile X syndrome 'fragile X syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'fragile X syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'fragile X syndrome' SubClassOf 'syndromic genetic obesity' 'fragile X syndrome' SubClassOf 'congenital nervous system disorder' 'fragile X syndrome' SubClassOf 'neuro-ophthalmological disease' 'fragile X syndrome' SubClassOf 'epilepsy' 'fragile X syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'fragile X syndrome' SubClassOf 'motor stereotypies' http://purl.obolibrary.org/obo/MONDO_0010386 immunodeficiency 33 'immunodeficiency 33' SubClassOf 'X-linked disease' 'immunodeficiency 33' SubClassOf 'X-linked mendelian susceptibility to mycobacterial diseases' 'immunodeficiency 33' SubClassOf 'immunodeficiency disease' 'immunodeficiency 33' SubClassOf 'mycobacterial infectious disease' http://purl.obolibrary.org/obo/MONDO_0010389 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency 'X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency' SubClassOf 'X-linked mendelian susceptibility to mycobacterial diseases' http://purl.obolibrary.org/obo/MONDO_0010382 fragile X-associated tremor/ataxia syndrome 'fragile X-associated tremor/ataxia syndrome' SubClassOf 'X-linked cerebellar ataxia' 'fragile X-associated tremor/ataxia syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010395 phosphoribosylpyrophosphate synthetase superactivity 'phosphoribosylpyrophosphate synthetase superactivity' SubClassOf 'nephropathy secondary to a storage or other metabolic disease' 'phosphoribosylpyrophosphate synthetase superactivity' SubClassOf 'inborn disorder of purine metabolism' http://purl.obolibrary.org/obo/MONDO_0010397 severe neonatal-onset encephalopathy with microcephaly 'severe neonatal-onset encephalopathy with microcephaly' SubClassOf 'neonatal epilepsy syndrome' 'severe neonatal-onset encephalopathy with microcephaly' SubClassOf 'monogenic epilepsy' 'severe neonatal-onset encephalopathy with microcephaly' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0010399 chromosome Xp21 deletion syndrome 'chromosome Xp21 deletion syndrome' SubClassOf 'developmental anomaly of metabolic origin' 'chromosome Xp21 deletion syndrome' SubClassOf 'inborn glycerol kinase deficiency' 'chromosome Xp21 deletion syndrome' SubClassOf 'partial monosomy of the short arm of chromosome X' http://purl.obolibrary.org/obo/MONDO_0010390 ocular albinism with late-onset sensorineural deafness 'ocular albinism with late-onset sensorineural deafness' SubClassOf 'syndromic genetic hearing loss' 'ocular albinism with late-onset sensorineural deafness' SubClassOf 'developmental anomaly of metabolic origin' 'ocular albinism with late-onset sensorineural deafness' SubClassOf 'ocular albinism' http://purl.obolibrary.org/obo/MONDO_0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency 'glycogen storage disease due to phosphoglycerate kinase 1 deficiency' SubClassOf 'glycogen storage disease' 'glycogen storage disease due to phosphoglycerate kinase 1 deficiency' SubClassOf 'familial hemolytic anemia' 'glycogen storage disease due to phosphoglycerate kinase 1 deficiency' SubClassOf 'muscular glycogenosis' 'glycogen storage disease due to phosphoglycerate kinase 1 deficiency' SubClassOf 'anemia due to erythrocyte enzyme disorder' http://purl.obolibrary.org/obo/MONDO_0000820 cerebral cavernous malformation 'cerebral cavernous malformation' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0012802 oculoauricular syndrome 'oculoauricular syndrome' SubClassOf 'syndromic microphthalmia' http://purl.obolibrary.org/obo/MONDO_0012803 diarrhea-vomiting due to trehalase deficiency 'diarrhea-vomiting due to trehalase deficiency' SubClassOf 'disorder of carbohydrate absorption and transport' http://purl.obolibrary.org/obo/MONDO_0012807 epidermolysis bullosa simplex 5C, with pyloric atresia 'epidermolysis bullosa simplex 5C, with pyloric atresia' SubClassOf 'basal epidermolysis bullosa simplex' http://purl.obolibrary.org/obo/MONDO_0012805 childhood onset GLUT1 deficiency syndrome 2 'childhood onset GLUT1 deficiency syndrome 2' SubClassOf 'paroxysmal dyskinesia' 'childhood onset GLUT1 deficiency syndrome 2' SubClassOf 'GLUT1 deficiency syndrome' http://purl.obolibrary.org/obo/MONDO_0012815 Coats plus syndrome 'Coats plus syndrome' SubClassOf 'congenital vitreoretinal dysplasia' 'Coats plus syndrome' SubClassOf 'telomere syndrome' 'Coats plus syndrome' SubClassOf 'cerebral small vessel disease' http://purl.obolibrary.org/obo/MONDO_0012824 hypomyelinating leukodystrophy 4 'hypomyelinating leukodystrophy 4' SubClassOf 'Pelizaeus-Merzbacher-like disease' http://purl.obolibrary.org/obo/MONDO_0012833 Crouzon syndrome-acanthosis nigricans syndrome 'Crouzon syndrome-acanthosis nigricans syndrome' SubClassOf 'neuro-ophthalmological disease' 'Crouzon syndrome-acanthosis nigricans syndrome' SubClassOf 'syndromic craniosynostosis' 'Crouzon syndrome-acanthosis nigricans syndrome' SubClassOf 'autosomal dominant disease' 'Crouzon syndrome-acanthosis nigricans syndrome' SubClassOf 'focal segmental glomerulosclerosis' http://purl.obolibrary.org/obo/MONDO_0012839 pyogenic bacterial infections due to MyD88 deficiency 'pyogenic bacterial infections due to MyD88 deficiency' SubClassOf 'hereditary predisposition to infections' http://purl.obolibrary.org/obo/MONDO_0012830 chromosome 10q23 deletion syndrome 'chromosome 10q23 deletion syndrome' SubClassOf 'partial monosomy of the long arm of chromosome 10' http://purl.obolibrary.org/obo/MONDO_0000863 myopathy, lactic acidosis, and sideroblastic anemia 'myopathy, lactic acidosis, and sideroblastic anemia' SubClassOf 'mitochondrial oxidative phosphorylation disorder' 'myopathy, lactic acidosis, and sideroblastic anemia' SubClassOf 'inherited sideroblastic anemia' 'myopathy, lactic acidosis, and sideroblastic anemia' SubClassOf 'inborn mitochondrial myopathy' http://purl.obolibrary.org/obo/MONDO_0009209 autosomal recessive faciodigitogenital syndrome 'autosomal recessive faciodigitogenital syndrome' SubClassOf 'autosomal recessive disease' 'autosomal recessive faciodigitogenital syndrome' SubClassOf 'faciodigitogenital syndrome' 'autosomal recessive faciodigitogenital syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009205 faciocardiorenal syndrome 'faciocardiorenal syndrome' SubClassOf 'syndromic renal or urinary tract malformation' 'faciocardiorenal syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009204 lethal faciocardiomelic dysplasia 'lethal faciocardiomelic dysplasia' SubClassOf 'congenital limb malformation' 'lethal faciocardiomelic dysplasia' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'lethal faciocardiomelic dysplasia' SubClassOf 'dysostosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0012858 primary CD59 deficiency 'primary CD59 deficiency' SubClassOf 'genetic peripheral neuropathy' 'primary CD59 deficiency' SubClassOf 'familial hemolytic anemia' http://purl.obolibrary.org/obo/MONDO_0009203 focal facial dermal dysplasia type III 'focal facial dermal dysplasia type III' SubClassOf 'focal facial dermal dysplasia' 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' http://purl.obolibrary.org/obo/MONDO_0009200 eyebrow duplication-syndactyly syndrome 'eyebrow duplication-syndactyly syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0012859 autosomal recessive osteopetrosis 7 'autosomal recessive osteopetrosis 7' SubClassOf 'immunodeficiency predominantly affecting antibody production' 'autosomal recessive osteopetrosis 7' SubClassOf 'autosomal recessive osteopetrosis' http://purl.obolibrary.org/obo/MONDO_0012853 Fontaine progeroid syndrome 'Fontaine progeroid syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Fontaine progeroid syndrome' SubClassOf 'progeroid syndrome' 'Fontaine progeroid syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0012854 bilateral microtia-deafness-cleft palate syndrome 'bilateral microtia-deafness-cleft palate syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'bilateral microtia-deafness-cleft palate syndrome' SubClassOf 'syndromic genetic hearing loss' 'bilateral microtia-deafness-cleft palate syndrome' SubClassOf 'orofacial clefting syndrome' http://purl.obolibrary.org/obo/MONDO_0009218 Farber lipogranulomatosis 'Farber lipogranulomatosis' SubClassOf 'sphingolipidosis' 'Farber lipogranulomatosis' SubClassOf 'neurometabolic disease' 'Farber lipogranulomatosis' SubClassOf 'subcutaneous tissue disorder' http://purl.obolibrary.org/obo/MONDO_0009216 glycogen storage disease due to GLUT2 deficiency 'glycogen storage disease due to GLUT2 deficiency' SubClassOf 'glycogen storage disease' 'glycogen storage disease due to GLUT2 deficiency' SubClassOf 'glucose transport disorder' 'glycogen storage disease due to GLUT2 deficiency' SubClassOf 'nephropathy secondary to a storage or other metabolic disease' http://purl.obolibrary.org/obo/MONDO_0010204 lysosomal acid lipase deficiency 'lysosomal acid lipase deficiency' SubClassOf 'syndromic dyslipidemia' 'lysosomal acid lipase deficiency' SubClassOf 'lysosomal lipid storage disorder' http://purl.obolibrary.org/obo/MONDO_0010207 woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome 'woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0012866 hereditary spastic paraplegia 35 'hereditary spastic paraplegia 35' SubClassOf 'pure or complex autosomal recessive spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0012867 hereditary spastic paraplegia 38 'hereditary spastic paraplegia 38' SubClassOf 'autosomal dominant complex spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0009212 congenital factor X deficiency 'congenital factor X deficiency' SubClassOf 'factor X deficiency' 'congenital factor X deficiency' SubClassOf 'congenital vitamin K-dependent coagulation factors deficiency' http://purl.obolibrary.org/obo/MONDO_0010209 xanthinuria type I 'xanthinuria type I' SubClassOf 'hereditary xanthinuria' http://purl.obolibrary.org/obo/MONDO_0009211 congenital factor VII deficiency 'congenital factor VII deficiency' SubClassOf 'congenital vitamin K-dependent coagulation factors deficiency' 'congenital factor VII deficiency' SubClassOf 'factor VII deficiency' http://purl.obolibrary.org/obo/MONDO_0010208 wrinkly skin syndrome 'wrinkly skin syndrome' SubClassOf 'autosomal recessive cutis laxa type 2A' http://purl.obolibrary.org/obo/MONDO_0009210 congenital factor V deficiency 'congenital factor V deficiency' EquivalentTo 'factor V deficiency' and ('has modifier' some 'inherited') 'congenital factor V deficiency' SubClassOf 'factor V deficiency' 'congenital factor V deficiency' SubClassOf 'inherited blood coagulation disorder' 'congenital factor V deficiency' SubClassOf 'hemorrhagic disease' http://purl.obolibrary.org/obo/MONDO_0012864 chromosome 2q32-q33 deletion syndrome 'chromosome 2q32-q33 deletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 2' 'chromosome 2q32-q33 deletion syndrome' SubClassOf 'SATB2 associated disorder' http://purl.obolibrary.org/obo/MONDO_0010200 Wilson disease 'Wilson disease' SubClassOf 'disorder of copper metabolism' 'Wilson disease' SubClassOf 'inborn metal metabolism disorder' 'Wilson disease' SubClassOf 'neurometabolic disease' 'Wilson disease' SubClassOf 'supranuclear oculomotor palsy' 'Wilson disease' SubClassOf 'genetic peripheral neuropathy' 'Wilson disease' SubClassOf 'nephropathy secondary to a storage or other metabolic disease' 'Wilson disease' SubClassOf 'inherited dystonia' http://purl.obolibrary.org/obo/MONDO_0010203 intellectual disability, Wolff type 'intellectual disability, Wolff type' SubClassOf 'syndromic intellectual disability' 'intellectual disability, Wolff type' SubClassOf 'congenital nervous system disorder' 'intellectual disability, Wolff type' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0000890 Zika virus congenital syndrome 'Zika virus congenital syndrome' SubClassOf 'vector-borne disease' 'Zika virus congenital syndrome' SubClassOf 'post-viral disorder' 'Zika virus congenital syndrome' SubClassOf 'disease arises from feature' some 'Zika virus infectious disease' 'Zika virus congenital syndrome' SubClassOf 'post-infectious syndrome' 'Zika virus congenital syndrome' SubClassOf 'viral disease' 'Zika virus congenital syndrome' SubClassOf 'has modifier' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0009228 gingival fibromatosis-facial dysmorphism syndrome 'gingival fibromatosis-facial dysmorphism syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'gingival fibromatosis-facial dysmorphism syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010216 xeroderma pigmentosum group G 'xeroderma pigmentosum group G' SubClassOf 'COFS syndrome' 'xeroderma pigmentosum group G' SubClassOf 'xeroderma pigmentosum-Cockayne syndrome complex' 'xeroderma pigmentosum group G' SubClassOf 'xeroderma pigmentosum' http://purl.obolibrary.org/obo/MONDO_0010215 xeroderma pigmentosum group F 'xeroderma pigmentosum group F' SubClassOf 'xeroderma pigmentosum' 'xeroderma pigmentosum group F' SubClassOf 'xeroderma pigmentosum-Cockayne syndrome complex' http://purl.obolibrary.org/obo/MONDO_0009223 hypogonadotropic hypogonadism 23 with or without anosmia 'hypogonadotropic hypogonadism 23 with or without anosmia' SubClassOf 'hypogonadotropic hypogonadism' 'hypogonadotropic hypogonadism 23 with or without anosmia' SubClassOf 'Leydig cell hypoplasia' http://purl.obolibrary.org/obo/MONDO_0009222 Gollop-Wolfgang complex 'Gollop-Wolfgang complex' SubClassOf 'dysostosis of genetic origin' 'Gollop-Wolfgang complex' SubClassOf 'congenital limb malformation' http://purl.obolibrary.org/obo/MONDO_0009221 femur-fibula-ulna complex 'femur-fibula-ulna complex' SubClassOf 'congenital limb malformation' 'femur-fibula-ulna complex' SubClassOf 'dysostosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0010210 xeroderma pigmentosum group A 'xeroderma pigmentosum group A' SubClassOf 'xeroderma pigmentosum' http://purl.obolibrary.org/obo/MONDO_0010212 xeroderma pigmentosum group D 'xeroderma pigmentosum group D' SubClassOf 'xeroderma pigmentosum' 'xeroderma pigmentosum group D' SubClassOf 'xeroderma pigmentosum-Cockayne syndrome complex' http://purl.obolibrary.org/obo/MONDO_0010211 xeroderma pigmentosum group C 'xeroderma pigmentosum group C' SubClassOf 'xeroderma pigmentosum' http://purl.obolibrary.org/obo/MONDO_0010214 xeroderma pigmentosum variant type 'xeroderma pigmentosum variant type' SubClassOf 'xeroderma pigmentosum' http://purl.obolibrary.org/obo/MONDO_0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type 'Ehlers-Danlos syndrome, spondylocheirodysplastic type' SubClassOf 'spondyloepiphyseal dysplasia' 'Ehlers-Danlos syndrome, spondylocheirodysplastic type' SubClassOf 'Ehlers-Danlos syndrome, spondylodysplastic type' http://purl.obolibrary.org/obo/MONDO_0010213 xeroderma pigmentosum group E 'xeroderma pigmentosum group E' SubClassOf 'xeroderma pigmentosum' http://purl.obolibrary.org/obo/MONDO_0009239 hypogonadotropic hypogonadism 24 without anosmia 'hypogonadotropic hypogonadism 24 without anosmia' SubClassOf 'hypogonadotropic hypogonadism' http://purl.obolibrary.org/obo/MONDO_0009238 hereditary folate malabsorption 'hereditary folate malabsorption' SubClassOf 'primary immunodeficiency due to a defect in adaptive immunity' 'hereditary folate malabsorption' SubClassOf 'intestinal disease due to vitamin absorption anomaly' 'hereditary folate malabsorption' SubClassOf 'inherited deficiency anemia' 'hereditary folate malabsorption' SubClassOf 'disorder of folate metabolism and transport' 'hereditary folate malabsorption' SubClassOf 'megaloblastic anemia' http://purl.obolibrary.org/obo/MONDO_0009236 Kandori fleck retina 'Kandori fleck retina' SubClassOf 'familial flecked retinopathy' http://purl.obolibrary.org/obo/MONDO_0009235 familial benign flecked retina 'familial benign flecked retina' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0009234 congenital high-molecular-weight kininogen deficiency 'congenital high-molecular-weight kininogen deficiency' SubClassOf 'coagulation protein disease' 'congenital high-molecular-weight kininogen deficiency' SubClassOf 'inherited blood coagulation disorder' 'congenital high-molecular-weight kininogen deficiency' SubClassOf 'hemorrhagic disease' http://purl.obolibrary.org/obo/MONDO_0009233 Fibulo-ulnar hypoplasia-renal anomalies syndrome 'Fibulo-ulnar hypoplasia-renal anomalies syndrome' SubClassOf 'syndromic renal or urinary tract malformation' 'Fibulo-ulnar hypoplasia-renal anomalies syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009232 Fuhrmann syndrome 'Fuhrmann syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'Fuhrmann syndrome' SubClassOf 'orofacial clefting syndrome' 'Fuhrmann syndrome' SubClassOf 'dysostosis of genetic origin' 'Fuhrmann syndrome' SubClassOf 'congenital limb malformation' http://purl.obolibrary.org/obo/MONDO_0009231 acromesomelic dysplasia 2B 'acromesomelic dysplasia 2B' SubClassOf 'dysostosis of genetic origin' 'acromesomelic dysplasia 2B' SubClassOf 'autosomal recessive disease' 'acromesomelic dysplasia 2B' SubClassOf 'acromesomelic dysplasia' 'acromesomelic dysplasia 2B' SubClassOf 'congenital limb malformation' http://purl.obolibrary.org/obo/MONDO_0009241 fountain syndrome 'fountain syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'fountain syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'fountain syndrome' SubClassOf 'congenital nervous system disorder' 'fountain syndrome' SubClassOf 'syndromic intellectual disability' 'fountain syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0009240 formiminoglutamic aciduria 'formiminoglutamic aciduria' SubClassOf 'megaloblastic anemia' 'formiminoglutamic aciduria' SubClassOf 'disorder of folate metabolism and transport' 'formiminoglutamic aciduria' SubClassOf 'inherited deficiency anemia' http://purl.obolibrary.org/obo/MONDO_0010221 CHIME syndrome 'CHIME syndrome' SubClassOf 'inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' 'CHIME syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'CHIME syndrome' SubClassOf 'heart disease' 'CHIME syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'CHIME syndrome' SubClassOf 'neurometabolic disease' 'CHIME syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'CHIME syndrome' SubClassOf 'syndromic genetic hearing loss' 'CHIME syndrome' SubClassOf 'developmental anomaly of metabolic origin' 'CHIME syndrome' SubClassOf 'syndromic dyslipidemia' 'CHIME syndrome' SubClassOf 'congenital nervous system disorder' 'CHIME syndrome' SubClassOf 'developmental defect of the eye' http://purl.obolibrary.org/obo/MONDO_0010220 Young syndrome 'Young syndrome' SubClassOf 'has modifier' some 'rare' 'Young syndrome' SubClassOf 'male infertility' 'Young syndrome' SubClassOf 'respiratory system disease' http://purl.obolibrary.org/obo/MONDO_0010222 X-linked Opitz G/BBB syndrome 'X-linked Opitz G/BBB syndrome' SubClassOf 'Opitz G/BBB syndrome' 'X-linked Opitz G/BBB syndrome' SubClassOf 'X-linked disease' http://purl.obolibrary.org/obo/MONDO_0010225 Dent disease type 1 'Dent disease type 1' SubClassOf 'Dent disease' http://purl.obolibrary.org/obo/MONDO_0010224 corpus callosum agenesis-abnormal genitalia syndrome 'corpus callosum agenesis-abnormal genitalia syndrome' SubClassOf 'ARX-related encephalopathy-brain malformation spectrum' http://purl.obolibrary.org/obo/MONDO_0012885 SRD5A3-CDG 'SRD5A3-CDG' SubClassOf 'neurometabolic disease' 'SRD5A3-CDG' SubClassOf 'congenital disorder of glycosylation type I' 'SRD5A3-CDG' SubClassOf 'genetic skin disease' 'SRD5A3-CDG' SubClassOf 'disorder of multiple glycosylation' 'SRD5A3-CDG' SubClassOf 'congenital nervous system disorder' 'SRD5A3-CDG' SubClassOf 'developmental defect of the eye' 'SRD5A3-CDG' SubClassOf 'developmental anomaly of metabolic origin' http://purl.obolibrary.org/obo/MONDO_0009249 hereditary fructose intolerance 'hereditary fructose intolerance' SubClassOf 'congenital intestinal transport defect' 'hereditary fructose intolerance' SubClassOf 'nephropathy secondary to a storage or other metabolic disease' 'hereditary fructose intolerance' SubClassOf 'disorder of fructose metabolism' 'hereditary fructose intolerance' SubClassOf 'disorder of carbohydrate absorption and transport' http://purl.obolibrary.org/obo/MONDO_0010237 X-linked intellectual disability-plagiocephaly syndrome 'X-linked intellectual disability-plagiocephaly syndrome' SubClassOf 'syndromic craniosynostosis' 'X-linked intellectual disability-plagiocephaly syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'X-linked intellectual disability-plagiocephaly syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability-plagiocephaly syndrome' SubClassOf 'congenital nervous system disorder' 'X-linked intellectual disability-plagiocephaly syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009247 frontofacionasal dysplasia 'frontofacionasal dysplasia' SubClassOf 'median facial cleft' 'frontofacionasal dysplasia' SubClassOf 'syndromic palpebral coloboma' 'frontofacionasal dysplasia' SubClassOf 'frontonasal dysplasia' 'frontofacionasal dysplasia' SubClassOf 'branchial arch or oral-acral syndrome' 'frontofacionasal dysplasia' SubClassOf 'syndromic ankyloblepharon' 'frontofacionasal dysplasia' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010239 lissencephaly type 1 due to doublecortin gene mutation 'lissencephaly type 1 due to doublecortin gene mutation' SubClassOf 'X-linked syndromic intellectual disability' 'lissencephaly type 1 due to doublecortin gene mutation' SubClassOf 'subcortical band heterotopia' 'lissencephaly type 1 due to doublecortin gene mutation' SubClassOf 'classic lissencephaly' http://purl.obolibrary.org/obo/MONDO_0009242 brittle cornea syndrome 'brittle cornea syndrome' SubClassOf 'Ehlers-Danlos syndrome' 'brittle cornea syndrome' SubClassOf 'has modifier' some 'rare' 'brittle cornea syndrome' SubClassOf 'corneal disease' 'brittle cornea syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0009252 essential fructosuria 'essential fructosuria' SubClassOf 'disorder of fructose metabolism' http://purl.obolibrary.org/obo/MONDO_0009251 fructose-1,6-bisphosphatase deficiency 'fructose-1,6-bisphosphatase deficiency' SubClassOf 'gluconeogenesis disorder' 'fructose-1,6-bisphosphatase deficiency' SubClassOf 'disorder of fructose metabolism' http://purl.obolibrary.org/obo/MONDO_0012892 bone fragility with contractures, arterial rupture, and deafness 'bone fragility with contractures, arterial rupture, and deafness' SubClassOf 'hereditary disorder of connective tissue' 'bone fragility with contractures, arterial rupture, and deafness' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0012897 congenital factor XI deficiency 'congenital factor XI deficiency' SubClassOf 'autosomal genetic disease' 'congenital factor XI deficiency' SubClassOf 'factor XI deficiency' 'congenital factor XI deficiency' SubClassOf 'congenital hematological disorder' 'congenital factor XI deficiency' SubClassOf 'hemorrhagic disease' 'congenital factor XI deficiency' EquivalentTo 'factor XI deficiency' and ('has modifier' some 'inherited') 'congenital factor XI deficiency' SubClassOf 'inherited blood coagulation disorder' http://purl.obolibrary.org/obo/MONDO_0012895 torsion dystonia 17 'torsion dystonia 17' SubClassOf 'focal, segmental or multifocal dystonia' 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' http://purl.obolibrary.org/obo/MONDO_0009259 gamma-glutamylcysteine synthetase deficiency 'gamma-glutamylcysteine synthetase deficiency' SubClassOf 'inherited glutathione metabolism disease' http://purl.obolibrary.org/obo/MONDO_0010248 X-linked spondyloepimetaphyseal dysplasia 'X-linked spondyloepimetaphyseal dysplasia' SubClassOf 'spondyloepiphyseal dysplasia' 'X-linked spondyloepimetaphyseal dysplasia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009258 classic galactosemia 'classic galactosemia' SubClassOf 'inherited primary ovarian failure' 'classic galactosemia' SubClassOf 'galactosemia' http://purl.obolibrary.org/obo/MONDO_0009257 galactose epimerase deficiency 'galactose epimerase deficiency' SubClassOf 'galactosemia' http://purl.obolibrary.org/obo/MONDO_0009255 galactokinase deficiency 'galactokinase deficiency' SubClassOf 'galactosemia' http://purl.obolibrary.org/obo/MONDO_0009254 fucosidosis 'fucosidosis' SubClassOf 'bone disease' 'fucosidosis' SubClassOf 'oligosaccharidosis' 'fucosidosis' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009253 Fryns syndrome 'Fryns syndrome' SubClassOf 'syndromic diaphragmatic or abdominal wall malformation' 'Fryns syndrome' SubClassOf 'syndromic intellectual disability' 'Fryns syndrome' SubClassOf 'congenital nervous system disorder' 'Fryns syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009263 gapo syndrome 'gapo syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'gapo syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'gapo syndrome' SubClassOf 'congenital nervous system disorder' 'gapo syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'gapo syndrome' SubClassOf 'syndromic intellectual disability' 'gapo syndrome' SubClassOf 'genetic nervous system disorder' 'gapo syndrome' SubClassOf 'syndromic hereditary optic neuropathy' http://purl.obolibrary.org/obo/MONDO_0009262 GM1 gangliosidosis type 3 'GM1 gangliosidosis type 3' SubClassOf 'GM1 gangliosidosis' http://purl.obolibrary.org/obo/MONDO_0009261 GM1 gangliosidosis type 2 'GM1 gangliosidosis type 2' SubClassOf 'GM1 gangliosidosis' http://purl.obolibrary.org/obo/MONDO_0010243 X-linked immunoneurologic disorder 'X-linked immunoneurologic disorder' SubClassOf 'X-linked disease' 'X-linked immunoneurologic disorder' SubClassOf 'immunodeficiency predominantly affecting antibody production' http://purl.obolibrary.org/obo/MONDO_0009260 GM1 gangliosidosis type 1 'GM1 gangliosidosis type 1' SubClassOf 'GM1 gangliosidosis' 'GM1 gangliosidosis type 1' SubClassOf 'syndromic dyslipidemia' http://purl.obolibrary.org/obo/MONDO_0010247 X-linked cerebral adrenoleukodystrophy 'X-linked cerebral adrenoleukodystrophy' SubClassOf 'adrenoleukodystrophy' http://purl.obolibrary.org/obo/MONDO_0010246 developmental and epileptic encephalopathy, 9 'developmental and epileptic encephalopathy, 9' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 9' SubClassOf 'syndromic dyslipidemia' 'developmental and epileptic encephalopathy, 9' SubClassOf 'X-linked intellectual disability-epilepsy syndrome' 'developmental and epileptic encephalopathy, 9' SubClassOf 'X-linked complex neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome 'Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome' SubClassOf 'Gaucher disease' http://purl.obolibrary.org/obo/MONDO_0009267 Gaucher disease type III 'Gaucher disease type III' SubClassOf 'cerebral lipidosis with dementia' 'Gaucher disease type III' SubClassOf 'interstitial lung disease specific to childhood' 'Gaucher disease type III' SubClassOf 'Gaucher disease' 'Gaucher disease type III' SubClassOf 'familial restrictive cardiomyopathy' 'Gaucher disease type III' SubClassOf 'secondary avascular necrosis' 'Gaucher disease type III' SubClassOf 'neurometabolic disease' 'Gaucher disease type III' SubClassOf 'avascular necrosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0009266 Gaucher disease type II 'Gaucher disease type II' SubClassOf 'cerebral lipidosis with dementia' 'Gaucher disease type II' SubClassOf 'neurometabolic disease' 'Gaucher disease type II' SubClassOf 'Gaucher disease' 'Gaucher disease type II' SubClassOf 'interstitial lung disease specific to childhood' http://purl.obolibrary.org/obo/MONDO_0009265 Gaucher disease type I 'Gaucher disease type I' SubClassOf 'Gaucher disease' 'Gaucher disease type I' SubClassOf 'cerebral lipidosis with dementia' 'Gaucher disease type I' SubClassOf 'familial restrictive cardiomyopathy' 'Gaucher disease type I' SubClassOf 'avascular necrosis of genetic origin' 'Gaucher disease type I' SubClassOf 'secondary avascular necrosis' http://purl.obolibrary.org/obo/MONDO_0009274 ghosal hematodiaphyseal dysplasia 'ghosal hematodiaphyseal dysplasia' SubClassOf 'bone disease' 'ghosal hematodiaphyseal dysplasia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009272 German syndrome 'German syndrome' SubClassOf 'primary lymphedema' 'German syndrome' SubClassOf 'fetal trimethadione syndrome' 'German syndrome' SubClassOf 'syndromic lymphedema' http://purl.obolibrary.org/obo/MONDO_0009271 geroderma osteodysplastica 'geroderma osteodysplastica' SubClassOf 'inherited cutis laxa' http://purl.obolibrary.org/obo/MONDO_0009270 genito-palato-cardiac syndrome 'genito-palato-cardiac syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'genito-palato-cardiac syndrome' SubClassOf 'orofacial clefting syndrome' 'genito-palato-cardiac syndrome' SubClassOf '46,XY disorder of sex development' 'genito-palato-cardiac syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010258 MEHMO syndrome 'MEHMO syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'MEHMO syndrome' SubClassOf 'syndromic genetic obesity' http://purl.obolibrary.org/obo/MONDO_0009279 triple-A syndrome 'triple-A syndrome' SubClassOf 'congenital nervous system disorder' 'triple-A syndrome' SubClassOf 'autosomal recessive disease' 'triple-A syndrome' SubClassOf 'chronic primary adrenal insufficiency' 'triple-A syndrome' SubClassOf 'syndromic esophageal malformation' 'triple-A syndrome' SubClassOf 'congenital alacrima' 'triple-A syndrome' SubClassOf 'genetic peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0009276 Bernard-Soulier syndrome 'Bernard-Soulier syndrome' SubClassOf 'syndromic disease' 'Bernard-Soulier syndrome' SubClassOf 'inherited bleeding disorder, platelet-type' 'Bernard-Soulier syndrome' SubClassOf 'isolated hereditary giant platelet disorder' http://purl.obolibrary.org/obo/MONDO_0009275 neonatal hemochromatosis 'neonatal hemochromatosis' SubClassOf 'hereditary hemochromatosis' 'neonatal hemochromatosis' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009285 gamma-glutamyl transpeptidase deficiency 'gamma-glutamyl transpeptidase deficiency' SubClassOf 'inborn disorder of the gamma-glutamyl cycle' http://purl.obolibrary.org/obo/MONDO_0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome 'Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome' SubClassOf 'congenital anemia' 'Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome' SubClassOf 'familial hemolytic anemia' 'Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome' SubClassOf 'congenital nervous system disorder' 'Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome' SubClassOf 'partial deletion of the long arm of chromosome X' http://purl.obolibrary.org/obo/MONDO_0009284 glutathione synthetase deficiency without 5-oxoprolinuria 'glutathione synthetase deficiency without 5-oxoprolinuria' SubClassOf 'inherited glutathione synthetase deficiency' http://purl.obolibrary.org/obo/MONDO_0009283 glutaric acidemia type 3 'glutaric acidemia type 3' SubClassOf 'inborn errors of metabolism' 'glutaric acidemia type 3' SubClassOf 'glutaric aciduria' http://purl.obolibrary.org/obo/MONDO_0010265 Simpson-Golabi-Behmel syndrome type 2 'Simpson-Golabi-Behmel syndrome type 2' SubClassOf 'genetic disorder' 'Simpson-Golabi-Behmel syndrome type 2' SubClassOf 'Simpson-Golabi-Behmel syndrome' http://purl.obolibrary.org/obo/MONDO_0009282 multiple acyl-CoA dehydrogenase deficiency 'multiple acyl-CoA dehydrogenase deficiency' SubClassOf 'inborn mitochondrial myopathy' 'multiple acyl-CoA dehydrogenase deficiency' SubClassOf 'muscular lipidosis' 'multiple acyl-CoA dehydrogenase deficiency' SubClassOf 'acyl-CoA dehydrogenase deficiency' 'multiple acyl-CoA dehydrogenase deficiency' SubClassOf 'glutaric aciduria' 'multiple acyl-CoA dehydrogenase deficiency' SubClassOf 'familial hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0010264 X-linked adrenal hypoplasia congenita 'X-linked adrenal hypoplasia congenita' SubClassOf 'congenital nervous system disorder' 'X-linked adrenal hypoplasia congenita' SubClassOf 'congenital hypogonadotropic hypogonadism' 'X-linked adrenal hypoplasia congenita' SubClassOf 'X-linked disease' 'X-linked adrenal hypoplasia congenita' SubClassOf 'chronic primary adrenal insufficiency' 'X-linked adrenal hypoplasia congenita' SubClassOf 'alternating hemiplegia of childhood' http://purl.obolibrary.org/obo/MONDO_0009281 glutaryl-CoA dehydrogenase deficiency 'glutaryl-CoA dehydrogenase deficiency' SubClassOf 'glutaric aciduria' 'glutaryl-CoA dehydrogenase deficiency' SubClassOf 'cerebral organic aciduria' 'glutaryl-CoA dehydrogenase deficiency' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0010269 Coats disease 'Coats disease' SubClassOf 'congenital vitreoretinal dysplasia' 'Coats disease' SubClassOf 'genetic central nervous system and retinal vascular disease' 'Coats disease' SubClassOf 'retinal telangiectasia' 'Coats disease' SubClassOf 'secondary dysgenetic glaucoma' http://purl.obolibrary.org/obo/MONDO_0010268 X-linked lissencephaly with abnormal genitalia 'X-linked lissencephaly with abnormal genitalia' SubClassOf 'lissencephaly spectrum disorders' 'X-linked lissencephaly with abnormal genitalia' SubClassOf 'ARX-related encephalopathy-brain malformation spectrum' 'X-linked lissencephaly with abnormal genitalia' SubClassOf '46,XY disorder of sex development' http://purl.obolibrary.org/obo/MONDO_0010261 microphthalmia, syndromic 2 'microphthalmia, syndromic 2' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'microphthalmia, syndromic 2' SubClassOf 'microphthalmia, Lenz type' http://purl.obolibrary.org/obo/MONDO_0009288 glycogen storage disease Ib 'glycogen storage disease Ib' SubClassOf 'constitutional neutropenia' 'glycogen storage disease Ib' SubClassOf 'glycogen storage disease type 1 due to SLC37A4 mutation' http://purl.obolibrary.org/obo/MONDO_0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA 'glycogen storage disease due to glucose-6-phosphatase deficiency type IA' SubClassOf 'glycogen storage disease I' http://purl.obolibrary.org/obo/MONDO_0009295 glycogen storage disease VII 'glycogen storage disease VII' SubClassOf 'familial hemolytic anemia' 'glycogen storage disease VII' SubClassOf 'glycogen storage disease' 'glycogen storage disease VII' SubClassOf 'anemia due to erythrocyte enzyme disorder' 'glycogen storage disease VII' SubClassOf 'muscular glycogenosis' http://purl.obolibrary.org/obo/MONDO_0009294 glycogen storage disease VI 'glycogen storage disease VI' SubClassOf 'glycogen storage disease' 'glycogen storage disease VI' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009293 glycogen storage disease V 'glycogen storage disease V' SubClassOf 'glycogen storage disease' 'glycogen storage disease V' SubClassOf 'muscular glycogenosis' http://purl.obolibrary.org/obo/MONDO_0010275 spondyloepimetaphyseal dysplasia, Bieganski type 'spondyloepimetaphyseal dysplasia, Bieganski type' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0009292 glycogen storage disease due to glycogen branching enzyme deficiency 'glycogen storage disease due to glycogen branching enzyme deficiency' SubClassOf 'familial dilated cardiomyopathy' 'glycogen storage disease due to glycogen branching enzyme deficiency' SubClassOf 'muscular glycogenosis' 'glycogen storage disease due to glycogen branching enzyme deficiency' SubClassOf 'glycogen storage disease' http://purl.obolibrary.org/obo/MONDO_0010278 Christianson syndrome 'Christianson syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Christianson syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Christianson syndrome' SubClassOf 'X-linked cerebellar ataxia' 'Christianson syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Christianson syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0009291 glycogen storage disease III 'glycogen storage disease III' SubClassOf 'glycogen storage disease' http://purl.obolibrary.org/obo/MONDO_0010277 syndromic X-linked intellectual disability Shashi type 'syndromic X-linked intellectual disability Shashi type' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'syndromic X-linked intellectual disability Shashi type' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'syndromic X-linked intellectual disability Shashi type' SubClassOf 'X-linked syndromic intellectual disability' 'syndromic X-linked intellectual disability Shashi type' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0009290 glycogen storage disease II 'glycogen storage disease II' SubClassOf 'glycogen storage disease' 'glycogen storage disease II' SubClassOf 'lysosomal glycogen storage disease' 'glycogen storage disease II' SubClassOf 'muscular glycogenosis' 'glycogen storage disease II' SubClassOf 'familial restrictive cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0010279 terminal osseous dysplasia-pigmentary defects syndrome 'terminal osseous dysplasia-pigmentary defects syndrome' SubClassOf 'hyperpigmentation of the skin' 'terminal osseous dysplasia-pigmentary defects syndrome' SubClassOf 'genetic skin disease' 'terminal osseous dysplasia-pigmentary defects syndrome' SubClassOf 'filamin-related bone disorder' 'terminal osseous dysplasia-pigmentary defects syndrome' SubClassOf 'acromelic dysplasia' http://purl.obolibrary.org/obo/MONDO_0010270 syndromic X-linked intellectual disability 7 'syndromic X-linked intellectual disability 7' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'syndromic X-linked intellectual disability 7' SubClassOf 'X-linked syndromic intellectual disability' 'syndromic X-linked intellectual disability 7' SubClassOf 'congenital nervous system disorder' 'syndromic X-linked intellectual disability 7' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009299 46 XX gonadal dysgenesis '46 XX gonadal dysgenesis' SubClassOf '46,XX disorder of gonadal development' '46 XX gonadal dysgenesis' SubClassOf 'gonadal dysgenesis' '46 XX gonadal dysgenesis' SubClassOf 'female infertility' '46 XX gonadal dysgenesis' SubClassOf 'inherited primary ovarian failure' '46 XX gonadal dysgenesis' SubClassOf 'genetic infertility' http://purl.obolibrary.org/obo/MONDO_0009297 familial renal glucosuria 'familial renal glucosuria' SubClassOf 'nephropathy secondary to a storage or other metabolic disease' 'familial renal glucosuria' SubClassOf 'renal tubular transport disease' 'familial renal glucosuria' SubClassOf 'glucose transport disorder' http://purl.obolibrary.org/obo/MONDO_0010285 syndromic X-linked intellectual disability Abidi type 'syndromic X-linked intellectual disability Abidi type' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'syndromic X-linked intellectual disability Abidi type' SubClassOf 'X-linked syndromic intellectual disability' 'syndromic X-linked intellectual disability Abidi type' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'syndromic X-linked intellectual disability Abidi type' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0010287 hereditary spastic paraplegia 16 'hereditary spastic paraplegia 16' SubClassOf 'pure or complex X-linked spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0010286 syndromic X-linked intellectual disability Siderius type 'syndromic X-linked intellectual disability Siderius type' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'syndromic X-linked intellectual disability Siderius type' SubClassOf 'congenital nervous system disorder' 'syndromic X-linked intellectual disability Siderius type' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'syndromic X-linked intellectual disability Siderius type' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010288 adrenomyodystrophy 'adrenomyodystrophy' SubClassOf 'has modifier' some 'rare' 'adrenomyodystrophy' SubClassOf 'adrenal gland disease' http://purl.obolibrary.org/obo/MONDO_0010295 anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome 'anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome' SubClassOf 'lymphatic malformation' 'anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome' SubClassOf 'osteopetrosis' 'anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome' SubClassOf 'primary immunodeficiency due to a defect in adaptive immunity' 'anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome' SubClassOf 'syndromic lymphedema' http://purl.obolibrary.org/obo/MONDO_0010298 Lesch-Nyhan syndrome 'Lesch-Nyhan syndrome' SubClassOf 'hypoxanthine-guanine phosphoribosyltransferase deficiency' 'Lesch-Nyhan syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency 'hypoxanthine guanine phosphoribosyltransferase partial deficiency' SubClassOf 'hypoxanthine-guanine phosphoribosyltransferase deficiency' http://purl.obolibrary.org/obo/MONDO_0010294 X-linked severe congenital neutropenia 'X-linked severe congenital neutropenia' SubClassOf 'X-linked disease' 'X-linked severe congenital neutropenia' SubClassOf 'severe congenital neutropenia' http://purl.obolibrary.org/obo/MONDO_0010293 ectodermal dysplasia and immune deficiency 'ectodermal dysplasia and immune deficiency' SubClassOf 'primary immunodeficiency due to a defect in adaptive immunity' 'ectodermal dysplasia and immune deficiency' SubClassOf 'hypohidrotic ectodermal dysplasia' http://purl.obolibrary.org/obo/MONDO_0009099 nephrogenic diabetes insipidus-intracranial calcification syndrome 'nephrogenic diabetes insipidus-intracranial calcification syndrome' SubClassOf 'inherited renal tubular disease' 'nephrogenic diabetes insipidus-intracranial calcification syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010089 isolated sulfite oxidase deficiency 'isolated sulfite oxidase deficiency' SubClassOf 'encephalopathy due to sulfite oxidase deficiency' http://purl.obolibrary.org/obo/MONDO_0010088 mucosulfatidosis 'mucosulfatidosis' SubClassOf 'sphingolipidosis' 'mucosulfatidosis' SubClassOf 'developmental anomaly of metabolic origin' 'mucosulfatidosis' SubClassOf 'syndromic dyslipidemia' 'mucosulfatidosis' SubClassOf 'neurometabolic disease' 'mucosulfatidosis' SubClassOf 'autosomal ichthyosis syndrome' 'mucosulfatidosis' SubClassOf 'bone disease' http://purl.obolibrary.org/obo/MONDO_0010080 familial infantile bilateral striatal necrosis 'familial infantile bilateral striatal necrosis' SubClassOf 'striatonigral degeneration' 'familial infantile bilateral striatal necrosis' SubClassOf 'syndromic disease' 'familial infantile bilateral striatal necrosis' SubClassOf 'infantile bilateral striatal necrosis' 'familial infantile bilateral striatal necrosis' EquivalentTo 'infantile bilateral striatal necrosis' and ('has modifier' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0010083 succinic semialdehyde dehydrogenase deficiency 'succinic semialdehyde dehydrogenase deficiency' SubClassOf 'gamma-amino butyric acid metabolism disorder' 'succinic semialdehyde dehydrogenase deficiency' SubClassOf 'cerebral organic aciduria' 'succinic semialdehyde dehydrogenase deficiency' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0010082 subaortic stenosis-short stature syndrome 'subaortic stenosis-short stature syndrome' SubClassOf 'syndromic corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0010098 taurodontism 'taurodontism' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0010099 Tay-Sachs disease AB variant 'Tay-Sachs disease AB variant' SubClassOf 'GM2 gangliosidosis' http://purl.obolibrary.org/obo/MONDO_0010090 Summitt syndrome 'Summitt syndrome' SubClassOf 'syndromic craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0010092 Filippi syndrome 'Filippi syndrome' SubClassOf 'syndromic intellectual disability' 'Filippi syndrome' SubClassOf 'congenital nervous system disorder' 'Filippi syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Filippi syndrome' SubClassOf 'genetic nervous system disorder' 'Filippi syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0010091 Cold-induced sweating syndrome 1 'Cold-induced sweating syndrome 1' SubClassOf 'cold-induced sweating syndrome' http://purl.obolibrary.org/obo/MONDO_0010094 spondylocarpotarsal synostosis syndrome 'spondylocarpotarsal synostosis syndrome' SubClassOf 'spondylodysplastic dysplasia' 'spondylocarpotarsal synostosis syndrome' SubClassOf 'genetic disorder' 'spondylocarpotarsal synostosis syndrome' SubClassOf 'filamin-related bone disorder' http://purl.obolibrary.org/obo/MONDO_0010095 ataxia-tapetoretinal degeneration syndrome 'ataxia-tapetoretinal degeneration syndrome' SubClassOf 'hereditary ataxia' http://purl.obolibrary.org/obo/MONDO_0012703 lissencephaly due to TUBA1A mutation 'lissencephaly due to TUBA1A mutation' SubClassOf 'lissencephaly type 3' http://purl.obolibrary.org/obo/MONDO_0012700 renal tubular acidosis, distal, 4, with hemolytic anemia 'renal tubular acidosis, distal, 4, with hemolytic anemia' SubClassOf 'distal renal tubular acidosis' 'renal tubular acidosis, distal, 4, with hemolytic anemia' SubClassOf 'familial hemolytic anemia' http://purl.obolibrary.org/obo/MONDO_0012714 early-onset myopathy with fatal cardiomyopathy 'early-onset myopathy with fatal cardiomyopathy' SubClassOf 'TTN-related myopathy' 'early-onset myopathy with fatal cardiomyopathy' SubClassOf 'familial dilated cardiomyopathy' 'early-onset myopathy with fatal cardiomyopathy' SubClassOf 'neuromuscular disease' http://purl.obolibrary.org/obo/MONDO_0012718 hypotonia with lactic acidemia and hyperammonemia 'hypotonia with lactic acidemia and hyperammonemia' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0012719 encephalopathy due to prosaposin deficiency 'encephalopathy due to prosaposin deficiency' SubClassOf 'neurometabolic disease' 'encephalopathy due to prosaposin deficiency' SubClassOf 'sphingolipidosis' http://purl.obolibrary.org/obo/MONDO_0012716 spondyloepiphyseal dysplasia, Cantu type 'spondyloepiphyseal dysplasia, Cantu type' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0000736 dyschromatosis universalis hereditaria 'dyschromatosis universalis hereditaria' SubClassOf 'pigmentation disease' 'dyschromatosis universalis hereditaria' SubClassOf 'hyperpigmentation of the skin' 'dyschromatosis universalis hereditaria' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0012725 lipoprotein glomerulopathy 'lipoprotein glomerulopathy' SubClassOf 'primary glomerular disease' 'lipoprotein glomerulopathy' SubClassOf 'syndromic dyslipidemia' http://purl.obolibrary.org/obo/MONDO_0012726 autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome 'autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome' SubClassOf 'disease of glomerular basement membrane' 'autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome' SubClassOf 'COL4A1 or COL4A2-related cerebral small vessel disease' http://purl.obolibrary.org/obo/MONDO_0012724 familial cold autoinflammatory syndrome 2 'familial cold autoinflammatory syndrome 2' SubClassOf 'familial cold autoinflammatory syndrome' http://purl.obolibrary.org/obo/MONDO_0012721 progressive myoclonic epilepsy type 3 'progressive myoclonic epilepsy type 3' SubClassOf 'congenital disorder of glycosylation' 'progressive myoclonic epilepsy type 3' SubClassOf 'neuronal ceroid lipofuscinosis' 'progressive myoclonic epilepsy type 3' SubClassOf 'congenital nervous system disorder' 'progressive myoclonic epilepsy type 3' SubClassOf 'progressive myoclonus epilepsy' http://purl.obolibrary.org/obo/MONDO_0012734 SERKAL syndrome 'SERKAL syndrome' SubClassOf '46 XX gonadal dysgenesis' http://purl.obolibrary.org/obo/MONDO_0012739 microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome 'microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome' SubClassOf 'developmental defect of the eye' http://purl.obolibrary.org/obo/MONDO_0012733 autosomal recessive bestrophinopathy 'autosomal recessive bestrophinopathy' SubClassOf 'macular degeneration' 'autosomal recessive bestrophinopathy' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0012747 glycogen storage disease due to aldolase A deficiency 'glycogen storage disease due to aldolase A deficiency' SubClassOf 'anemia due to erythrocyte enzyme disorder' 'glycogen storage disease due to aldolase A deficiency' SubClassOf 'familial hemolytic anemia' 'glycogen storage disease due to aldolase A deficiency' SubClassOf 'glycogen storage disease' http://purl.obolibrary.org/obo/MONDO_0012740 chromosome 22q11.2 deletion syndrome, distal 'chromosome 22q11.2 deletion syndrome, distal' SubClassOf '22q11.2 deletion syndrome' http://purl.obolibrary.org/obo/MONDO_0009109 lysinuric protein intolerance 'lysinuric protein intolerance' SubClassOf 'inborn disorder of amino acid absorption and transport' 'lysinuric protein intolerance' SubClassOf 'inherited amino acid metabolic disorder' http://purl.obolibrary.org/obo/MONDO_0009108 hyperdibasic aminoaciduria type 1 'hyperdibasic aminoaciduria type 1' SubClassOf 'inborn disorder of amino acid absorption and transport' http://purl.obolibrary.org/obo/MONDO_0009107 diastrophic dysplasia 'diastrophic dysplasia' SubClassOf 'genetic disorder' 'diastrophic dysplasia' SubClassOf 'osteochondrodysplasia' 'diastrophic dysplasia' SubClassOf 'sulfation-related bone disorder' http://purl.obolibrary.org/obo/MONDO_0009106 diastematomyelia 'diastematomyelia' SubClassOf 'congenital nervous system disorder' 'diastematomyelia' SubClassOf 'neural tube defect' http://purl.obolibrary.org/obo/MONDO_0009105 trichohepatoenteric syndrome 'trichohepatoenteric syndrome' SubClassOf 'primary immunodeficiency due to a genetic defect in innate immunity' 'trichohepatoenteric syndrome' SubClassOf 'hereditary disorder of connective tissue' 'trichohepatoenteric syndrome' SubClassOf 'type 1 interferonopathy' 'trichohepatoenteric syndrome' SubClassOf 'genetic parenchymatous liver disease' 'trichohepatoenteric syndrome' SubClassOf 'intractable diarrhea of infancy' http://purl.obolibrary.org/obo/MONDO_0009104 Donnai-Barrow syndrome 'Donnai-Barrow syndrome' SubClassOf 'syndromic diaphragmatic or thoracic malformation' 'Donnai-Barrow syndrome' SubClassOf 'autosomal recessive disease' 'Donnai-Barrow syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Donnai-Barrow syndrome' SubClassOf 'syndromic diaphragmatic or abdominal wall malformation' http://purl.obolibrary.org/obo/MONDO_0012756 proximal 16p11.2 microdeletion syndrome 'proximal 16p11.2 microdeletion syndrome' SubClassOf 'partial deletion of the short arm of chromosome 16' 'proximal 16p11.2 microdeletion syndrome' SubClassOf 'predisposes towards' some 'autism' http://purl.obolibrary.org/obo/MONDO_0012757 lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome 'lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome' SubClassOf 'primary interstitial lung disease specific to childhood' 'lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome' SubClassOf 'T-B+ severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0012750 lethal arthrogryposis-anterior horn cell disease syndrome 'lethal arthrogryposis-anterior horn cell disease syndrome' SubClassOf 'arthrogryposis multiplex congenita' http://purl.obolibrary.org/obo/MONDO_0012755 episodic ataxia type 7 'episodic ataxia type 7' SubClassOf 'hereditary episodic ataxia' http://purl.obolibrary.org/obo/MONDO_0009115 congenital lactase deficiency 'congenital lactase deficiency' SubClassOf 'has modifier' some 'congenital' 'congenital lactase deficiency' SubClassOf 'disorder of carbohydrate absorption and transport' http://purl.obolibrary.org/obo/MONDO_0009114 congenital sucrase-isomaltase deficiency 'congenital sucrase-isomaltase deficiency' SubClassOf 'has modifier' some 'congenital' 'congenital sucrase-isomaltase deficiency' SubClassOf 'disorder of carbohydrate absorption and transport' 'congenital sucrase-isomaltase deficiency' SubClassOf 'intestinal disaccharide deficiency and disaccharide malabsorption' http://purl.obolibrary.org/obo/MONDO_0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency 'hemolytic anemia due to diphosphoglycerate mutase deficiency' SubClassOf 'anemia due to erythrocyte enzyme disorder' 'hemolytic anemia due to diphosphoglycerate mutase deficiency' SubClassOf 'inborn errors of metabolism' 'hemolytic anemia due to diphosphoglycerate mutase deficiency' SubClassOf 'familial hemolytic anemia' http://purl.obolibrary.org/obo/MONDO_0009112 rhizomelic chondrodysplasia punctata type 2 'rhizomelic chondrodysplasia punctata type 2' SubClassOf 'rhizomelic chondrodysplasia punctata' 'rhizomelic chondrodysplasia punctata type 2' SubClassOf 'glyceronephosphate O-acyltransferase deficiency' http://purl.obolibrary.org/obo/MONDO_0009111 dihydropyrimidinuria 'dihydropyrimidinuria' SubClassOf 'inborn disorder of pyrimidine metabolism' http://purl.obolibrary.org/obo/MONDO_0009110 dicarboxylic aminoaciduria 'dicarboxylic aminoaciduria' SubClassOf 'inherited amino acid metabolic disorder' 'dicarboxylic aminoaciduria' SubClassOf 'inborn disorder of amino acid absorption and transport' http://purl.obolibrary.org/obo/MONDO_0009120 diverticulosis of bowel, hernia, and retinal detachment 'diverticulosis of bowel, hernia, and retinal detachment' SubClassOf 'syndromic intestinal malformation' http://purl.obolibrary.org/obo/MONDO_0012761 chromosome 3q29 microduplication syndrome 'chromosome 3q29 microduplication syndrome' SubClassOf 'partial duplication of the long arm of chromosome 3' http://purl.obolibrary.org/obo/MONDO_0010100 Tay-Sachs disease 'Tay-Sachs disease' SubClassOf 'genetic peripheral neuropathy' 'Tay-Sachs disease' SubClassOf 'GM2 gangliosidosis' 'Tay-Sachs disease' SubClassOf 'cerebral lipidosis with dementia' 'Tay-Sachs disease' SubClassOf 'eye degenerative disorder' http://purl.obolibrary.org/obo/MONDO_0010102 taurodontia-absent teeth-sparse hair syndrome 'taurodontia-absent teeth-sparse hair syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0010101 Teebi-Shaltout syndrome 'Teebi-Shaltout syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'Teebi-Shaltout syndrome' SubClassOf 'dysostosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0012766 hereditary spastic paraplegia 37 'hereditary spastic paraplegia 37' SubClassOf 'autosomal dominant pure spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0010104 non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome 'non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome' SubClassOf 'disorder of development or morphogenesis' 'non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009128 dwarfism, intellectual disability, and eye abnormality 'dwarfism, intellectual disability, and eye abnormality' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0010116 thoracomelic dysplasia 'thoracomelic dysplasia' SubClassOf 'short rib dysplasia' 'thoracomelic dysplasia' SubClassOf 'thoracic malformation' http://purl.obolibrary.org/obo/MONDO_0009126 duodenal atresia 'duodenal atresia' SubClassOf 'non-syndromic gastroduodenal malformation' 'duodenal atresia' SubClassOf 'intestinal atresia' 'duodenal atresia' SubClassOf 'non-syndromic intestinal malformation' http://purl.obolibrary.org/obo/MONDO_0010119 obsolete Glanzmann's thrombasthenia 'obsolete Glanzmann's thrombasthenia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0009124 Dubowitz syndrome 'Dubowitz syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Dubowitz syndrome' SubClassOf 'genetic nervous system disorder' 'Dubowitz syndrome' SubClassOf 'syndromic intellectual disability' 'Dubowitz syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'Dubowitz syndrome' SubClassOf 'eyelids malposition disorder' 'Dubowitz syndrome' SubClassOf 'congenital nervous system disorder' 'Dubowitz syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009123 dopamine beta-hydroxylase deficiency 'dopamine beta-hydroxylase deficiency' SubClassOf 'neurometabolic disease' 'dopamine beta-hydroxylase deficiency' SubClassOf 'eyelids malposition disorder' 'dopamine beta-hydroxylase deficiency' SubClassOf 'inherited orthostatic hypotension' 'dopamine beta-hydroxylase deficiency' SubClassOf 'disorder of catecholamine synthesis' http://purl.obolibrary.org/obo/MONDO_0009121 von Voss-Cherstvoy syndrome 'von Voss-Cherstvoy syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009131 Riley-Day syndrome 'Riley-Day syndrome' SubClassOf 'autosomal recessive hereditary sensory and autonomic neuropathy' 'Riley-Day syndrome' SubClassOf 'congenital alacrima' 'Riley-Day syndrome' SubClassOf 'primary orthostatic hypotension' 'Riley-Day syndrome' SubClassOf 'genetic skin disease' 'Riley-Day syndrome' SubClassOf 'dermis disorder' 'Riley-Day syndrome' SubClassOf 'neuro-ophthalmological disease' 'Riley-Day syndrome' SubClassOf 'congenital nervous system disorder' 'Riley-Day syndrome' SubClassOf 'neurocristopathy' http://purl.obolibrary.org/obo/MONDO_0009130 Dyggve-Melchior-Clausen disease 'Dyggve-Melchior-Clausen disease' SubClassOf 'syndromic disease' 'Dyggve-Melchior-Clausen disease' SubClassOf 'spondyloepiphyseal dysplasia' 'Dyggve-Melchior-Clausen disease' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0010111 odontotrichomelic syndrome 'odontotrichomelic syndrome' SubClassOf 'gapo syndrome' 'odontotrichomelic syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'odontotrichomelic syndrome' SubClassOf 'orofacial clefting syndrome' http://purl.obolibrary.org/obo/MONDO_0010110 tetraamelia-multiple malformations syndrome 'tetraamelia-multiple malformations syndrome' SubClassOf 'congenital limb malformation' 'tetraamelia-multiple malformations syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'tetraamelia-multiple malformations syndrome' SubClassOf 'dysostosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0012774 chromosome 15q13.3 microdeletion syndrome 'chromosome 15q13.3 microdeletion syndrome' SubClassOf 'congenital nervous system disorder' 'chromosome 15q13.3 microdeletion syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'chromosome 15q13.3 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 15' 'chromosome 15q13.3 microdeletion syndrome' SubClassOf 'epilepsy' 'chromosome 15q13.3 microdeletion syndrome' SubClassOf 'genetic nervous system disorder' 'chromosome 15q13.3 microdeletion syndrome' SubClassOf 'syndromic intellectual disability' 'chromosome 15q13.3 microdeletion syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009139 dyssegmental dysplasia, Rolland-Desbuquois type 'dyssegmental dysplasia, Rolland-Desbuquois type' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0010128 thyrocerebrorenal syndrome 'thyrocerebrorenal syndrome' SubClassOf 'syndromic renal or urinary tract malformation' http://purl.obolibrary.org/obo/MONDO_0009138 dysosteosclerosis 'dysosteosclerosis' SubClassOf 'osteopetrosis' http://purl.obolibrary.org/obo/MONDO_0012789 dystonia 16 'dystonia 16' SubClassOf 'persistent combined dystonia' 'dystonia 16' SubClassOf 'parkinsonian disorder' 'dystonia 16' SubClassOf 'multifocal dystonia' http://purl.obolibrary.org/obo/MONDO_0010129 thymic-renal-anal-lung dysplasia 'thymic-renal-anal-lung dysplasia' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'thymic-renal-anal-lung dysplasia' SubClassOf 'syndromic renal or urinary tract malformation' http://purl.obolibrary.org/obo/MONDO_0009134 congenital dyserythropoietic anemia type 2 'congenital dyserythropoietic anemia type 2' SubClassOf 'congenital dyserythropoietic anemia' 'congenital dyserythropoietic anemia type 2' SubClassOf 'congenital anemia' 'congenital dyserythropoietic anemia type 2' SubClassOf 'disorder of multiple glycosylation' http://purl.obolibrary.org/obo/MONDO_0009133 cerebellar ataxia, intellectual disability, and dysequilibrium 'cerebellar ataxia, intellectual disability, and dysequilibrium' SubClassOf 'autosomal recessive congenital cerebellar ataxia' 'cerebellar ataxia, intellectual disability, and dysequilibrium' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0012783 RFT1-CDG 'RFT1-CDG' SubClassOf 'neurometabolic disease' 'RFT1-CDG' SubClassOf 'congenital disorder of glycosylation type I' 'RFT1-CDG' SubClassOf 'disorder of protein N-glycosylation' 'RFT1-CDG' SubClassOf 'congenital nervous system disorder' 'RFT1-CDG' SubClassOf 'syndromic genetic hearing loss' 'RFT1-CDG' SubClassOf 'developmental anomaly of metabolic origin' http://purl.obolibrary.org/obo/MONDO_0009141 torsion dystonia 2 'torsion dystonia 2' SubClassOf 'focal, segmental or multifocal dystonia' http://purl.obolibrary.org/obo/MONDO_0012784 autosomal recessive ataxia due to ubiquinone deficiency 'autosomal recessive ataxia due to ubiquinone deficiency' SubClassOf 'coenzyme Q10 deficiency' 'autosomal recessive ataxia due to ubiquinone deficiency' EquivalentTo 'autosomal recessive cerebellar ataxia' and 'coenzyme Q10 deficiency' 'autosomal recessive ataxia due to ubiquinone deficiency' SubClassOf 'autosomal recessive cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0009140 Silverman-Handmaker type dyssegmental dysplasia 'Silverman-Handmaker type dyssegmental dysplasia' SubClassOf 'qualitative or quantitative defects of perlecan' 'Silverman-Handmaker type dyssegmental dysplasia' SubClassOf 'spondyloepiphyseal dysplasia' 'Silverman-Handmaker type dyssegmental dysplasia' SubClassOf 'perlecan-related bone disorder' http://purl.obolibrary.org/obo/MONDO_0010121 thrombocytopenia-absent radius syndrome 'thrombocytopenia-absent radius syndrome' SubClassOf 'dysostosis of genetic origin' 'thrombocytopenia-absent radius syndrome' SubClassOf 'congenital hematological disorder' 'thrombocytopenia-absent radius syndrome' SubClassOf 'syndromic constitutional thrombocytopenia' 'thrombocytopenia-absent radius syndrome' SubClassOf 'congenital limb malformation' 'thrombocytopenia-absent radius syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0012787 hereditary spastic paraplegia 39 'hereditary spastic paraplegia 39' SubClassOf 'disorder of phospholipids, sphingolipids and fatty acids biosynthesis' 'hereditary spastic paraplegia 39' SubClassOf 'syndromic dyslipidemia' 'hereditary spastic paraplegia 39' SubClassOf 'autosomal recessive complex spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0010123 absent thumb-short stature-immunodeficiency syndrome 'absent thumb-short stature-immunodeficiency syndrome' SubClassOf 'primary immunodeficiency due to a defect in adaptive immunity' http://purl.obolibrary.org/obo/MONDO_0010125 upper limb defect-eye and ear abnormalities syndrome 'upper limb defect-eye and ear abnormalities syndrome' SubClassOf 'syndromic intellectual disability' 'upper limb defect-eye and ear abnormalities syndrome' SubClassOf 'congenital nervous system disorder' 'upper limb defect-eye and ear abnormalities syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0012786 juvenile cataract-microcornea-renal glucosuria syndrome 'juvenile cataract-microcornea-renal glucosuria syndrome' SubClassOf 'disorder of carbohydrate absorption and transport' 'juvenile cataract-microcornea-renal glucosuria syndrome' SubClassOf 'autosomal dominant cataract' 'juvenile cataract-microcornea-renal glucosuria syndrome' SubClassOf 'nephropathy secondary to a storage or other metabolic disease' http://purl.obolibrary.org/obo/MONDO_0010139 isolated thyroid-stimulating hormone deficiency 'isolated thyroid-stimulating hormone deficiency' SubClassOf 'non-acquired pituitary hormone deficiency' 'isolated thyroid-stimulating hormone deficiency' SubClassOf 'central congenital hypothyroidism' 'isolated thyroid-stimulating hormone deficiency' SubClassOf 'hypothyroidism, congenital, nongoitrous' http://purl.obolibrary.org/obo/MONDO_0009149 ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome 'ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0009148 Rosselli-Gulienetti syndrome 'Rosselli-Gulienetti syndrome' SubClassOf 'ankyloblepharon-ectodermal defects-cleft lip/palate syndrome' http://purl.obolibrary.org/obo/MONDO_0009146 ectodermal dysplasia-sensorineural deafness syndrome 'ectodermal dysplasia-sensorineural deafness syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'ectodermal dysplasia-sensorineural deafness syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0009145 SchC6pf-Schulz-Passarge syndrome 'SchC6pf-Schulz-Passarge syndrome' SubClassOf 'diffuse palmoplantar keratoderma' 'SchC6pf-Schulz-Passarge syndrome' SubClassOf 'autosomal recessive disease' 'SchC6pf-Schulz-Passarge syndrome' SubClassOf 'ectodermal dysplasia WNT10A related' http://purl.obolibrary.org/obo/MONDO_0012794 ANE syndrome 'ANE syndrome' SubClassOf 'genetic nervous system disorder' 'ANE syndrome' SubClassOf 'non-acquired combined pituitary hormone deficiency' 'ANE syndrome' SubClassOf 'genetic alopecia' 'ANE syndrome' SubClassOf 'congenital hypogonadotropic hypogonadism' 'ANE syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010130 dihydropyrimidine dehydrogenase deficiency 'dihydropyrimidine dehydrogenase deficiency' SubClassOf 'osteochondrosis of genetic origin' 'dihydropyrimidine dehydrogenase deficiency' SubClassOf 'inborn disorder of pyrimidine metabolism' http://purl.obolibrary.org/obo/MONDO_0009151 cleft lip/palate-ectodermal dysplasia syndrome 'cleft lip/palate-ectodermal dysplasia syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'cleft lip/palate-ectodermal dysplasia syndrome' SubClassOf 'orofacial clefting syndrome' 'cleft lip/palate-ectodermal dysplasia syndrome' SubClassOf 'autosomal recessive disease' 'cleft lip/palate-ectodermal dysplasia syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'cleft lip/palate-ectodermal dysplasia syndrome' SubClassOf 'orofacial cleft' http://purl.obolibrary.org/obo/MONDO_0012792 mitochondrial DNA depletion syndrome 8a 'mitochondrial DNA depletion syndrome 8a' SubClassOf 'mitochondrial DNA depletion syndrome, encephalomyopathic form' http://purl.obolibrary.org/obo/MONDO_0009150 hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome 'hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome' SubClassOf 'syndromic hypothyroidism' http://purl.obolibrary.org/obo/MONDO_0010132 familial thyroid dyshormonogenesis 'familial thyroid dyshormonogenesis' SubClassOf 'primary congenital hypothyroidism' 'familial thyroid dyshormonogenesis' SubClassOf 'metabolic disease' http://purl.obolibrary.org/obo/MONDO_0010134 Pendred syndrome 'Pendred syndrome' SubClassOf 'syndromic genetic hearing loss' 'Pendred syndrome' SubClassOf 'autosomal recessive disease' 'Pendred syndrome' SubClassOf 'congenital nervous system disorder' 'Pendred syndrome' SubClassOf 'syndromic hypothyroidism' http://purl.obolibrary.org/obo/MONDO_0012791 mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 'mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria' SubClassOf 'syndromic disease' 'mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria' SubClassOf 'mitochondrial DNA depletion syndrome, encephalomyopathic form' http://purl.obolibrary.org/obo/MONDO_0010149 transcobalamin II deficiency 'transcobalamin II deficiency' SubClassOf 'inborn vitamin B12 deficiency' 'transcobalamin II deficiency' SubClassOf 'inherited deficiency anemia' 'transcobalamin II deficiency' SubClassOf 'primary immunodeficiency due to a defect in adaptive immunity' 'transcobalamin II deficiency' SubClassOf 'inborn disorder of cobalamin metabolism and transport' http://purl.obolibrary.org/obo/MONDO_0009159 Ehlers-Danlos syndrome, cardiac valvular type 'Ehlers-Danlos syndrome, cardiac valvular type' SubClassOf 'heart disease' 'Ehlers-Danlos syndrome, cardiac valvular type' SubClassOf 'Ehlers-Danlos syndrome' http://purl.obolibrary.org/obo/MONDO_0009158 Ehlers-Danlos syndrome, fibronectinemic type 'Ehlers-Danlos syndrome, fibronectinemic type' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, fibronectinemic type' SubClassOf 'inherited bleeding disorder, platelet-type' 'Ehlers-Danlos syndrome, fibronectinemic type' SubClassOf 'inherited blood coagulation disorder' http://purl.obolibrary.org/obo/MONDO_0009156 ectrodactyly-polydactyly syndrome 'ectrodactyly-polydactyly syndrome' SubClassOf 'syndromic disease' 'ectrodactyly-polydactyly syndrome' SubClassOf 'congenital limb malformation' http://purl.obolibrary.org/obo/MONDO_0009155 EEM syndrome 'EEM syndrome' SubClassOf 'dysostosis of genetic origin' 'EEM syndrome' SubClassOf 'congenital nervous system disorder' 'EEM syndrome' SubClassOf 'congenital limb malformation' 'EEM syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'EEM syndrome' SubClassOf 'genetic macular dystrophy' http://purl.obolibrary.org/obo/MONDO_0010142 hypothyroidism due to TSH receptor mutations 'hypothyroidism due to TSH receptor mutations' SubClassOf 'hypothyroidism, congenital, nongoitrous' 'hypothyroidism due to TSH receptor mutations' SubClassOf 'primary congenital hypothyroidism' http://purl.obolibrary.org/obo/MONDO_0009162 Ellis-van Creveld syndrome 'Ellis-van Creveld syndrome' SubClassOf 'syndromic urogenital tract malformation' 'Ellis-van Creveld syndrome' SubClassOf 'heart disease' 'Ellis-van Creveld syndrome' SubClassOf 'syndromic renal or urinary tract malformation' 'Ellis-van Creveld syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'Ellis-van Creveld syndrome' SubClassOf 'Jeune syndrome' 'Ellis-van Creveld syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0010144 tibial hemimelia 'tibial hemimelia' SubClassOf 'hemimelia' http://purl.obolibrary.org/obo/MONDO_0009161 Ehlers-Danlos syndrome, dermatosparaxis type 'Ehlers-Danlos syndrome, dermatosparaxis type' SubClassOf 'Ehlers-Danlos syndrome' http://purl.obolibrary.org/obo/MONDO_0010143 lethal restrictive dermopathy 'lethal restrictive dermopathy' SubClassOf 'laminopathy' 'lethal restrictive dermopathy' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0010140 isolated thyrotropin-releasing hormone deficiency 'isolated thyrotropin-releasing hormone deficiency' SubClassOf 'genetic disorder' 'isolated thyrotropin-releasing hormone deficiency' SubClassOf 'central congenital hypothyroidism' http://purl.obolibrary.org/obo/MONDO_0009168 Fowler syndrome 'Fowler syndrome' SubClassOf 'genetic nervous system disorder' 'Fowler syndrome' SubClassOf 'disorder of development or morphogenesis' 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 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009166 pontocerebellar hypoplasia type 4 'pontocerebellar hypoplasia type 4' SubClassOf 'pontocerebellar hypoplasia' http://purl.obolibrary.org/obo/MONDO_0010153 trichoodontoonychial dysplasia 'trichoodontoonychial dysplasia' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0010152 trichomegaly-retina pigmentary degeneration-dwarfism syndrome 'trichomegaly-retina pigmentary degeneration-dwarfism syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0009173 congenital enteropathy due to enteropeptidase deficiency 'congenital enteropathy due to enteropeptidase deficiency' SubClassOf 'has modifier' some 'congenital' 'congenital enteropathy due to enteropeptidase deficiency' SubClassOf 'digestive system disease' 'congenital enteropathy due to enteropeptidase deficiency' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0010155 Dorfman-Chanarin disease 'Dorfman-Chanarin disease' SubClassOf 'syndromic dyslipidemia' 'Dorfman-Chanarin disease' SubClassOf 'neutral lipid storage disease' 'Dorfman-Chanarin disease' SubClassOf 'autosomal ichthyosis syndrome' http://purl.obolibrary.org/obo/MONDO_0010154 trigonocephaly-bifid nose-acral anomalies syndrome 'trigonocephaly-bifid nose-acral anomalies syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010156 Troyer syndrome 'Troyer syndrome' SubClassOf 'autosomal recessive complex spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0010159 mismatch repair cancer syndrome 1 'mismatch repair cancer syndrome 1' SubClassOf 'genetic nervous system disorder' 'mismatch repair cancer syndrome 1' SubClassOf 'hereditary neoplastic syndrome' 'mismatch repair cancer syndrome 1' SubClassOf 'inherited nervous system cancer-predisposing syndrome' 'mismatch repair cancer syndrome 1' SubClassOf 'mismatch repair cancer syndrome' http://purl.obolibrary.org/obo/MONDO_0009177 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome 'late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome' SubClassOf 'junctional epidermolysis bullosa' http://purl.obolibrary.org/obo/MONDO_0009176 epidermodysplasia verruciformis 'epidermodysplasia verruciformis' SubClassOf 'genetic skin disease' 'epidermodysplasia verruciformis' SubClassOf 'primary immunodeficiency due to a genetic defect in innate immunity' http://purl.obolibrary.org/obo/MONDO_0010164 phocomelia, Schinzel type 'phocomelia, Schinzel type' SubClassOf 'dysostosis of genetic origin' 'phocomelia, Schinzel type' SubClassOf 'congenital limb malformation' http://purl.obolibrary.org/obo/MONDO_0009185 amelocerebrohypohidrotic syndrome 'amelocerebrohypohidrotic syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0009183 junctional epidermolysis bullosa with pyloric atresia 'junctional epidermolysis bullosa with pyloric atresia' SubClassOf 'junctional epidermolysis bullosa' http://purl.obolibrary.org/obo/MONDO_0010165 ulna hypoplasia-intellectual disability syndrome 'ulna hypoplasia-intellectual disability syndrome' SubClassOf 'dysostosis of genetic origin' 'ulna hypoplasia-intellectual disability syndrome' SubClassOf 'congenital limb malformation' http://purl.obolibrary.org/obo/MONDO_0009182 junctional epidermolysis bullosa Herlitz type 'junctional epidermolysis bullosa Herlitz type' SubClassOf 'junctional epidermolysis bullosa' 'junctional epidermolysis bullosa, non-Herlitz type' DisjointWith 'junctional epidermolysis bullosa Herlitz type' http://purl.obolibrary.org/obo/MONDO_0010168 Usher syndrome type 1 'Usher syndrome type 1' SubClassOf 'Usher syndrome' http://purl.obolibrary.org/obo/MONDO_0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy 'epidermolysis bullosa simplex 5B, with muscular dystrophy' SubClassOf 'qualitative or quantitative defects of plectin' 'epidermolysis bullosa simplex 5B, with muscular dystrophy' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' 'epidermolysis bullosa simplex 5B, with muscular dystrophy' SubClassOf 'syndromic disease' 'epidermolysis bullosa simplex 5B, with muscular dystrophy' SubClassOf 'basal epidermolysis bullosa simplex' http://purl.obolibrary.org/obo/MONDO_0010167 urocanic aciduria 'urocanic aciduria' SubClassOf 'neurometabolic disease' 'urocanic aciduria' SubClassOf 'cerebral organic aciduria' 'urocanic aciduria' SubClassOf 'inborn disorder of histidine metabolism' http://purl.obolibrary.org/obo/MONDO_0009180 junctional epidermolysis bullosa, non-Herlitz type 'junctional epidermolysis bullosa, non-Herlitz type' SubClassOf 'junctional epidermolysis bullosa' 'junctional epidermolysis bullosa, non-Herlitz type' DisjointWith 'junctional epidermolysis bullosa Herlitz type' http://purl.obolibrary.org/obo/MONDO_0010160 tyrosinemia type II 'tyrosinemia type II' SubClassOf 'tyrosinemia' 'tyrosinemia type II' SubClassOf 'focal palmoplantar keratoderma' 'tyrosinemia type II' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0010162 tyrosinemia type III 'tyrosinemia type III' SubClassOf 'tyrosinemia' http://purl.obolibrary.org/obo/MONDO_0010161 tyrosinemia type I 'tyrosinemia type I' SubClassOf 'nephropathy secondary to a storage or other metabolic disease' 'tyrosinemia type I' SubClassOf 'genetic peripheral neuropathy' 'tyrosinemia type I' SubClassOf 'tyrosinemia' http://purl.obolibrary.org/obo/MONDO_0009189 multiple epiphyseal dysplasia type 4 'multiple epiphyseal dysplasia type 4' SubClassOf 'multiple epiphyseal dysplasia' 'multiple epiphyseal dysplasia type 4' SubClassOf 'sulfation-related bone disorder' http://purl.obolibrary.org/obo/MONDO_0009188 epilepsy-telangiectasia syndrome 'epilepsy-telangiectasia syndrome' SubClassOf 'syndromic intellectual disability' 'epilepsy-telangiectasia syndrome' SubClassOf 'congenital nervous system disorder' 'epilepsy-telangiectasia syndrome' SubClassOf 'epilepsy syndrome' 'epilepsy-telangiectasia syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009196 ermine phenotype 'ermine phenotype' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0010176 orofaciodigital syndrome type 6 'orofaciodigital syndrome type 6' SubClassOf 'syndromic intellectual disability' 'orofaciodigital syndrome type 6' SubClassOf 'orofaciodigital syndrome' 'orofaciodigital syndrome type 6' SubClassOf 'Joubert syndrome 17' 'orofaciodigital syndrome type 6' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'orofaciodigital syndrome type 6' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0009192 Wolcott-Rallison syndrome 'Wolcott-Rallison syndrome' SubClassOf 'syndromic disease' 'Wolcott-Rallison syndrome' SubClassOf 'autosomal recessive disease' 'Wolcott-Rallison syndrome' SubClassOf 'inborn errors of metabolism' 'Wolcott-Rallison syndrome' SubClassOf 'spondyloepiphyseal dysplasia' 'Wolcott-Rallison syndrome' SubClassOf 'diabetes mellitus' http://purl.obolibrary.org/obo/MONDO_0009191 Lowry-Wood syndrome 'Lowry-Wood syndrome' SubClassOf 'multiple epiphyseal dysplasia and pseudoachondroplasia' http://purl.obolibrary.org/obo/MONDO_0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 'Mayer-Rokitansky-Kuster-Hauser syndrome type 1' SubClassOf 'Mayer-Rokitansky-Kuster-Hauser syndrome' http://purl.obolibrary.org/obo/MONDO_0010172 VACTERL with hydrocephalus 'VACTERL with hydrocephalus' SubClassOf 'congenital nervous system disorder' 'VACTERL with hydrocephalus' SubClassOf 'disease shares features of' some 'VACTERL/vater association' 'VACTERL with hydrocephalus' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'VACTERL with hydrocephalus' SubClassOf 'syndromic anorectal malformation' 'VACTERL with hydrocephalus' SubClassOf 'X-linked syndromic intellectual disability' 'VACTERL with hydrocephalus' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009198 congenital lethal erythroderma 'congenital lethal erythroderma' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0022174 chromosome 12p deletion 'chromosome 12p deletion' SubClassOf 'partial deletion of chromosome 12' http://purl.obolibrary.org/obo/MONDO_0010185 methylmalonic aciduria and homocystinuria type cblD 'methylmalonic aciduria and homocystinuria type cblD' SubClassOf 'methylmalonic aciduria and homocystinuria' http://purl.obolibrary.org/obo/MONDO_0010188 familial isolated deficiency of vitamin E 'familial isolated deficiency of vitamin E' SubClassOf 'disorder of other vitamins and cofactors metabolism and transport' 'familial isolated deficiency of vitamin E' SubClassOf 'autosomal recessive metabolic cerebellar ataxia' 'familial isolated deficiency of vitamin E' SubClassOf 'genetic peripheral neuropathy' 'familial isolated deficiency of vitamin E' SubClassOf 'neurometabolic disease' 'familial isolated deficiency of vitamin E' SubClassOf 'vitamin metabolic disorder' http://purl.obolibrary.org/obo/MONDO_0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 'vitamin K-dependent clotting factors, combined deficiency of, type 1' SubClassOf 'disorder of other vitamins and cofactors metabolism and transport' 'vitamin K-dependent clotting factors, combined deficiency of, type 1' SubClassOf 'congenital vitamin K-dependent coagulation factors deficiency' http://purl.obolibrary.org/obo/MONDO_0010180 autosomal recessive spondylocostal dysostosis 'autosomal recessive spondylocostal dysostosis' SubClassOf 'disorder of fucoglycosan synthesis' 'autosomal recessive spondylocostal dysostosis' SubClassOf 'congenital disorder of glycosylation-related bone disorder' 'autosomal recessive spondylocostal dysostosis' SubClassOf 'autosomal recessive disease' 'autosomal recessive spondylocostal dysostosis' SubClassOf 'spondylocostal dysostosis' http://purl.obolibrary.org/obo/MONDO_0010181 oculogastrointestinal muscular dystrophy 'oculogastrointestinal muscular dystrophy' SubClassOf 'intestinal motility disease' 'oculogastrointestinal muscular dystrophy' SubClassOf 'eyelids malposition disorder' http://purl.obolibrary.org/obo/MONDO_0010184 methylmalonic aciduria and homocystinuria type cblC 'methylmalonic aciduria and homocystinuria type cblC' SubClassOf 'methylmalonic aciduria and homocystinuria' 'methylmalonic aciduria and homocystinuria type cblC' SubClassOf 'genetic peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0010183 methylmalonic aciduria and homocystinuria type cblF 'methylmalonic aciduria and homocystinuria type cblF' SubClassOf 'methylmalonic aciduria and homocystinuria' http://purl.obolibrary.org/obo/MONDO_0010196 Werner syndrome 'Werner syndrome' SubClassOf 'autosomal recessive disease' 'Werner syndrome' SubClassOf 'genetic skin disease' 'Werner syndrome' SubClassOf 'hereditary poikiloderma' 'Werner syndrome' SubClassOf 'progeroid syndrome' 'Werner syndrome' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0010199 white forelock with malformations 'white forelock with malformations' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'white forelock with malformations' SubClassOf 'heart disease' http://purl.obolibrary.org/obo/MONDO_0010191 von Willebrand disease 3 'von Willebrand disease 3' SubClassOf 'hereditary von Willebrand disease' http://purl.obolibrary.org/obo/MONDO_0010193 Weaver syndrome 'Weaver syndrome' SubClassOf 'genetic nervous system disorder' 'Weaver syndrome' SubClassOf 'syndromic intellectual disability' 'Weaver syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Weaver syndrome' SubClassOf 'congenital nervous system disorder' 'Weaver syndrome' SubClassOf 'overgrowth syndrome' 'Weaver syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0034145 oculocerebrodental syndrome 'oculocerebrodental syndrome' SubClassOf 'congenital nervous system disorder' 'oculocerebrodental syndrome' SubClassOf 'syndromic cataract' 'oculocerebrodental syndrome' SubClassOf 'ciliopathy' 'oculocerebrodental syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'oculocerebrodental syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'oculocerebrodental syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0017405 1p21.3 microdeletion syndrome '1p21.3 microdeletion syndrome' SubClassOf 'partial deletion of the short arm of chromosome 1' http://purl.obolibrary.org/obo/MONDO_0017406 hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome 'hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome' SubClassOf 'syndromic genetic hearing loss' 'hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome' SubClassOf 'congenital hypogonadotropic hypogonadism' http://purl.obolibrary.org/obo/MONDO_0017407 deficiency in anterior pituitary function - variable immunodeficiency syndrome 'deficiency in anterior pituitary function - variable immunodeficiency syndrome' SubClassOf 'immunodeficiency, common variable, 10' 'deficiency in anterior pituitary function - variable immunodeficiency syndrome' SubClassOf 'non-acquired combined pituitary hormone deficiency' http://purl.obolibrary.org/obo/MONDO_0017408 rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome 'rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome' SubClassOf 'syndromic genetic obesity' http://purl.obolibrary.org/obo/MONDO_0017401 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 'familial isolated arrhythmogenic ventricular dysplasia, left dominant form' SubClassOf 'familial isolated arrhythmogenic right ventricular dysplasia' http://purl.obolibrary.org/obo/MONDO_0017402 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 'familial isolated arrhythmogenic ventricular dysplasia, biventricular form' SubClassOf 'familial isolated arrhythmogenic right ventricular dysplasia' http://purl.obolibrary.org/obo/MONDO_0017403 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 'familial isolated arrhythmogenic ventricular dysplasia, right dominant form' SubClassOf 'familial isolated arrhythmogenic right ventricular dysplasia' http://purl.obolibrary.org/obo/MONDO_0017404 distal Xq28 microduplication syndrome 'distal Xq28 microduplication syndrome' SubClassOf 'chromosome Xq28 duplication syndrome' http://purl.obolibrary.org/obo/MONDO_0017400 hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome 'hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome' SubClassOf 'genetic disorder' 'hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome' SubClassOf 'syndromic intestinal malformation' 'hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome' SubClassOf 'syndromic visceral malformation' http://purl.obolibrary.org/obo/MONDO_0017417 renal-hepatic-pancreatic dysplasia 'renal-hepatic-pancreatic dysplasia' SubClassOf 'familial cystic renal disease' 'renal-hepatic-pancreatic dysplasia' SubClassOf 'syndromic visceral malformation' http://purl.obolibrary.org/obo/MONDO_0017419 non-syndromic amelia 'non-syndromic amelia' SubClassOf 'non-syndromic limb reduction defect' http://purl.obolibrary.org/obo/MONDO_0017412 obsolete 2q31.1 microduplication syndrome 'obsolete 2q31.1 microduplication syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017413 Reunion island Larsen syndrome 'Reunion island Larsen syndrome' SubClassOf 'congenital disorder of glycosylation-related bone disorder' 'Reunion island Larsen syndrome' SubClassOf 'disorder of multiple glycosylation' http://purl.obolibrary.org/obo/MONDO_0017415 multiple pterygium syndrome 'multiple pterygium syndrome' SubClassOf 'arthrogryposis syndrome' http://purl.obolibrary.org/obo/MONDO_0017410 porencephaly 'porencephaly' SubClassOf 'encephaloclastic disorder' 'porencephaly' SubClassOf 'disease has feature' some 'structural epilepsy' http://purl.obolibrary.org/obo/MONDO_0017411 neonatal inflammatory skin and bowel disease 'neonatal inflammatory skin and bowel disease' SubClassOf 'genetic skin disease' 'neonatal inflammatory skin and bowel disease' SubClassOf 'hereditary disorder of connective tissue' 'neonatal inflammatory skin and bowel disease' SubClassOf 'epidermal disease' 'neonatal inflammatory skin and bowel disease' SubClassOf 'inflammatory bowel disease' 'neonatal inflammatory skin and bowel disease' SubClassOf 'primary immunodeficiency due to a genetic defect in innate immunity' 'neonatal inflammatory skin and bowel disease' SubClassOf 'autoinflammatory syndrome' http://purl.obolibrary.org/obo/MONDO_0017427 congenital deformities of limbs 'congenital deformities of limbs' SubClassOf 'non-syndromic limb malformation' http://purl.obolibrary.org/obo/MONDO_0017428 congenital deformities of fingers 'congenital deformities of fingers' SubClassOf 'congenital deformities of limbs' http://purl.obolibrary.org/obo/MONDO_0017429 joint formation defects 'joint formation defects' SubClassOf 'dysostosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0017423 split hand or/and split foot malformation 'split hand or/and split foot malformation' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0017424 non-syndromic brachydactyly 'non-syndromic brachydactyly' SubClassOf 'brachydactyly' 'non-syndromic brachydactyly' SubClassOf 'non-syndromic terminal limb defects' http://purl.obolibrary.org/obo/MONDO_0017425 preaxial polydactyly of fingers 'preaxial polydactyly of fingers' SubClassOf 'non-syndromic polydactyly' http://purl.obolibrary.org/obo/MONDO_0017426 postaxial polydactyly of fingers 'postaxial polydactyly of fingers' SubClassOf 'non-syndromic polydactyly' http://purl.obolibrary.org/obo/MONDO_0017420 intercalary limb defects 'intercalary limb defects' SubClassOf 'non-syndromic limb reduction defect' http://purl.obolibrary.org/obo/MONDO_0017421 non-syndromic terminal limb defects 'non-syndromic terminal limb defects' SubClassOf 'non-syndromic limb reduction defect' http://purl.obolibrary.org/obo/MONDO_0017422 adactyly of hand 'adactyly of hand' SubClassOf 'non-syndromic terminal limb defects' http://purl.obolibrary.org/obo/MONDO_0017438 amelia of lower limb 'amelia of lower limb' SubClassOf 'non-syndromic amelia' http://purl.obolibrary.org/obo/MONDO_0017439 tetra-amelia 'tetra-amelia' SubClassOf 'non-syndromic amelia' http://purl.obolibrary.org/obo/MONDO_0017435 popliteal pterygium syndrome 'popliteal pterygium syndrome' SubClassOf 'syndromic disease' 'popliteal pterygium syndrome' SubClassOf 'arthrogryposis syndrome' http://purl.obolibrary.org/obo/MONDO_0017436 lethal congenital contracture syndrome 'lethal congenital contracture syndrome' SubClassOf 'arthrogryposis syndrome' 'lethal congenital contracture syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0017437 amelia of upper limb 'amelia of upper limb' SubClassOf 'non-syndromic amelia' http://purl.obolibrary.org/obo/MONDO_0017430 non-syndromic congenital joint dislocations 'non-syndromic congenital joint dislocations' SubClassOf 'non-syndromic limb malformation' http://purl.obolibrary.org/obo/MONDO_0017431 non-syndromic limb overgrowth 'non-syndromic limb overgrowth' SubClassOf 'non-syndromic limb malformation' http://purl.obolibrary.org/obo/MONDO_0017449 split hand 'split hand' SubClassOf 'split hand or/and split foot malformation' http://purl.obolibrary.org/obo/MONDO_0017445 acheiria 'acheiria' SubClassOf 'non-syndromic terminal limb defects' http://purl.obolibrary.org/obo/MONDO_0017446 apodia 'apodia' SubClassOf 'non-syndromic terminal limb defects' http://purl.obolibrary.org/obo/MONDO_0017447 congenital absence/hypoplasia of thumb 'congenital absence/hypoplasia of thumb' SubClassOf 'adactyly of hand' http://purl.obolibrary.org/obo/MONDO_0017448 congenital absence/hypoplasia of fingers excluding thumb 'congenital absence/hypoplasia of fingers excluding thumb' SubClassOf 'adactyly of hand' http://purl.obolibrary.org/obo/MONDO_0017441 congenital absence of upper arm and forearm with hand present 'congenital absence of upper arm and forearm with hand present' SubClassOf 'intercalary limb defects' http://purl.obolibrary.org/obo/MONDO_0017442 congenital absence of thigh and lower leg with foot present 'congenital absence of thigh and lower leg with foot present' SubClassOf 'intercalary limb defects' http://purl.obolibrary.org/obo/MONDO_0017443 congenital absence of both forearm and hand 'congenital absence of both forearm and hand' SubClassOf 'non-syndromic terminal limb defects' http://purl.obolibrary.org/obo/MONDO_0017444 congenital absence of both lower leg and foot 'congenital absence of both lower leg and foot' SubClassOf 'non-syndromic terminal limb defects' http://purl.obolibrary.org/obo/MONDO_0017440 humeral agenesis/hypoplasia 'humeral agenesis/hypoplasia' SubClassOf 'non-syndromic limb reduction defect' http://purl.obolibrary.org/obo/MONDO_0017456 central polydactyly of fingers 'central polydactyly of fingers' SubClassOf 'non-syndromic polydactyly' http://purl.obolibrary.org/obo/MONDO_0017457 Preaxial polydactyly of toes 'Preaxial polydactyly of toes' SubClassOf 'non-syndromic polydactyly' http://purl.obolibrary.org/obo/MONDO_0017452 non-syndromic brachydactyly of toes 'non-syndromic brachydactyly of toes' SubClassOf 'foot disorder' 'non-syndromic brachydactyly of toes' SubClassOf 'non-syndromic brachydactyly' http://purl.obolibrary.org/obo/MONDO_0017454 triphalangeal thumb-polysyndactyly syndrome 'triphalangeal thumb-polysyndactyly syndrome' SubClassOf 'congenital limb malformation' 'triphalangeal thumb-polysyndactyly syndrome' SubClassOf 'disease has major feature' some 'polydactyly of a triphalangeal thumb' http://purl.obolibrary.org/obo/MONDO_0017455 hyperphalangy 'hyperphalangy' SubClassOf 'non-syndromic polydactyly, syndactyly and/or hyperphalangy' http://purl.obolibrary.org/obo/MONDO_0017450 split foot 'split foot' SubClassOf 'split hand or/and split foot malformation' http://purl.obolibrary.org/obo/MONDO_0017451 non-syndromic brachydactyly of fingers 'non-syndromic brachydactyly of fingers' SubClassOf 'hand disorder' 'non-syndromic brachydactyly of fingers' SubClassOf 'non-syndromic brachydactyly' http://purl.obolibrary.org/obo/MONDO_0017467 tibio-fibular synostosis 'tibio-fibular synostosis' SubClassOf 'joint formation defects' http://purl.obolibrary.org/obo/MONDO_0017468 congenital shoulder dislocation 'congenital shoulder dislocation' SubClassOf 'non-syndromic congenital joint dislocations' http://purl.obolibrary.org/obo/MONDO_0017469 congenital elbow dislocation 'congenital elbow dislocation' SubClassOf 'non-syndromic congenital joint dislocations' http://purl.obolibrary.org/obo/MONDO_0017463 congenital pseudoarthrosis of the femur 'congenital pseudoarthrosis of the femur' SubClassOf 'congenital pseudoarthrosis of the limbs' http://purl.obolibrary.org/obo/MONDO_0017464 congenital pseudoarthrosis of the fibula 'congenital pseudoarthrosis of the fibula' SubClassOf 'congenital pseudoarthrosis of the limbs' http://purl.obolibrary.org/obo/MONDO_0017465 congenital pseudoarthrosis of the radius 'congenital pseudoarthrosis of the radius' SubClassOf 'congenital pseudoarthrosis of the limbs' http://purl.obolibrary.org/obo/MONDO_0017466 congenital pseudoarthrosis of the ulna 'congenital pseudoarthrosis of the ulna' SubClassOf 'congenital pseudoarthrosis of the limbs' http://purl.obolibrary.org/obo/MONDO_0017460 syndactyly type 6 'syndactyly type 6' SubClassOf 'non-syndromic syndactyly' http://purl.obolibrary.org/obo/MONDO_0017461 familial isolated clinodactyly of fingers 'familial isolated clinodactyly of fingers' SubClassOf 'congenital deformities of fingers' http://purl.obolibrary.org/obo/MONDO_0017462 congenital pseudoarthrosis of the tibia 'congenital pseudoarthrosis of the tibia' SubClassOf 'congenital pseudoarthrosis of the limbs' http://purl.obolibrary.org/obo/MONDO_0017480 amelia of lower limb, unilateral 'amelia of lower limb, unilateral' SubClassOf 'amelia of lower limb' http://purl.obolibrary.org/obo/MONDO_0017478 amelia of upper limb, unilateral 'amelia of upper limb, unilateral' SubClassOf 'amelia of upper limb' http://purl.obolibrary.org/obo/MONDO_0017479 amelia of upper limb, bilateral 'amelia of upper limb, bilateral' SubClassOf 'amelia of upper limb' http://purl.obolibrary.org/obo/MONDO_0017474 macrodactyly of fingers 'macrodactyly of fingers' SubClassOf 'non-syndromic limb overgrowth' http://purl.obolibrary.org/obo/MONDO_0017475 macrodactyly of toes 'macrodactyly of toes' SubClassOf 'non-syndromic limb overgrowth' http://purl.obolibrary.org/obo/MONDO_0017476 upper limb hypertrophy 'upper limb hypertrophy' SubClassOf 'non-syndromic limb overgrowth' http://purl.obolibrary.org/obo/MONDO_0017477 lower limb hypertrophy 'lower limb hypertrophy' SubClassOf 'non-syndromic limb overgrowth' http://purl.obolibrary.org/obo/MONDO_0017470 congenital knee dislocation 'congenital knee dislocation' SubClassOf 'non-syndromic congenital joint dislocations' http://purl.obolibrary.org/obo/MONDO_0017471 congenital patella dislocation 'congenital patella dislocation' SubClassOf 'non-syndromic congenital joint dislocations' http://purl.obolibrary.org/obo/MONDO_0017472 patella aplasia/hypoplasia, unilateral 'patella aplasia/hypoplasia, unilateral' SubClassOf 'patella aplasia/hypoplasia' http://purl.obolibrary.org/obo/MONDO_0017473 patella aplasia/hypoplasia, bilateral 'patella aplasia/hypoplasia, bilateral' SubClassOf 'patella aplasia/hypoplasia' http://purl.obolibrary.org/obo/MONDO_0017490 tibial hemimelia, unilateral 'tibial hemimelia, unilateral' SubClassOf 'tibial hemimelia' http://purl.obolibrary.org/obo/MONDO_0017491 tibial hemimelia, bilateral 'tibial hemimelia, bilateral' SubClassOf 'tibial hemimelia' http://purl.obolibrary.org/obo/MONDO_0017489 ulnar hemimelia, unilateral 'ulnar hemimelia, unilateral' SubClassOf 'ulnar hemimelia' http://purl.obolibrary.org/obo/MONDO_0017485 femoral agenesis/hypoplasia, bilateral 'femoral agenesis/hypoplasia, bilateral' SubClassOf 'femoral agenesis/hypoplasia' http://purl.obolibrary.org/obo/MONDO_0017486 radial hemimelia, unilateral 'radial hemimelia, unilateral' SubClassOf 'radial hemimelia' http://purl.obolibrary.org/obo/MONDO_0017487 radial hemimelia, bilateral 'radial hemimelia, bilateral' SubClassOf 'radial hemimelia' http://purl.obolibrary.org/obo/MONDO_0017488 ulnar hemimelia, bilateral 'ulnar hemimelia, bilateral' SubClassOf 'ulnar hemimelia' http://purl.obolibrary.org/obo/MONDO_0017481 amelia of lower limb, bilateral 'amelia of lower limb, bilateral' SubClassOf 'amelia of lower limb' http://purl.obolibrary.org/obo/MONDO_0017482 humeral agenesis/hypoplasia, unilateral 'humeral agenesis/hypoplasia, unilateral' SubClassOf 'humeral agenesis/hypoplasia' http://purl.obolibrary.org/obo/MONDO_0017483 humeral agenesis/hypoplasia, bilateral 'humeral agenesis/hypoplasia, bilateral' SubClassOf 'humeral agenesis/hypoplasia' http://purl.obolibrary.org/obo/MONDO_0017484 femoral agenesis/hypoplasia, unilateral 'femoral agenesis/hypoplasia, unilateral' SubClassOf 'femoral agenesis/hypoplasia' http://purl.obolibrary.org/obo/HP_0001357 Plagiocephaly 'Plagiocephaly' SubClassOf 'Abnormal skull morphology' http://purl.obolibrary.org/obo/MONDO_0017496 congenital absence of thigh and lower leg with foot present, unilateral 'congenital absence of thigh and lower leg with foot present, unilateral' SubClassOf 'congenital absence of thigh and lower leg with foot present' http://purl.obolibrary.org/obo/MONDO_0017497 congenital absence of thigh and lower leg with foot present, bilateral 'congenital absence of thigh and lower leg with foot present, bilateral' SubClassOf 'congenital absence of thigh and lower leg with foot present' http://purl.obolibrary.org/obo/MONDO_0017498 congenital absence of both forearm and hand, unilateral 'congenital absence of both forearm and hand, unilateral' SubClassOf 'congenital absence of both forearm and hand' http://purl.obolibrary.org/obo/MONDO_0017499 congenital absence of both forearm and hand, bilateral 'congenital absence of both forearm and hand, bilateral' SubClassOf 'congenital absence of both forearm and hand' http://purl.obolibrary.org/obo/MONDO_0017492 fibular hemimelia, unilateral 'fibular hemimelia, unilateral' SubClassOf 'fibular hemimelia' http://purl.obolibrary.org/obo/MONDO_0017493 fibular hemimelia, bilateral 'fibular hemimelia, bilateral' SubClassOf 'fibular hemimelia' http://purl.obolibrary.org/obo/HP_0025268 Stuttering 'Stuttering' SubClassOf 'Neurological speech impairment' http://purl.obolibrary.org/obo/MONDO_0007916 primary intestinal lymphangiectasia 'primary intestinal lymphangiectasia' SubClassOf 'intestinal lymphangiectasia' http://purl.obolibrary.org/obo/MONDO_0007917 lymphedema-cerebral arteriovenous anomaly syndrome 'lymphedema-cerebral arteriovenous anomaly syndrome' SubClassOf 'syndromic lymphedema' 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 'overgrowth syndrome' 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'intestinal polyposis syndrome' 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'syndromic intellectual disability' 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'PTEN hamartoma tumor syndrome' 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'genetic vascular anomaly' 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'genetic intestinal polyposis' 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007922 lymphedema-distichiasis syndrome 'lymphedema-distichiasis syndrome' SubClassOf 'lymphatic malformation' 'lymphedema-distichiasis syndrome' SubClassOf 'syndromic lymphedema' 'lymphedema-distichiasis syndrome' SubClassOf 'secondary ectropion' http://purl.obolibrary.org/obo/MONDO_0007920 lymphatic malformation 5 'lymphatic malformation 5' SubClassOf 'lymphatic malformation' 'lymphatic malformation 5' SubClassOf 'neurovascular disorder' 'lymphatic malformation 5' SubClassOf 'craniofacial dystonia' 'lymphatic malformation 5' SubClassOf 'inherited dystonia' http://purl.obolibrary.org/obo/MONDO_0019907 ring chromosome 13 'ring chromosome 13' SubClassOf 'syndromic anorectal malformation' 'ring chromosome 13' SubClassOf 'chromosome 13 disorder' 'ring chromosome 13' SubClassOf 'ring chromosome disorder' http://purl.obolibrary.org/obo/MONDO_0019906 ring chromosome 11 'ring chromosome 11' SubClassOf 'ring chromosome disorder' 'ring chromosome 11' SubClassOf 'chromosome 11 disorder' http://purl.obolibrary.org/obo/MONDO_0019909 ring chromosome 16 'ring chromosome 16' SubClassOf 'ring chromosome disorder' 'ring chromosome 16' SubClassOf 'chromosome 16 disorder' http://purl.obolibrary.org/obo/MONDO_0019908 ring chromosome 15 'ring chromosome 15' SubClassOf 'ring chromosome disorder' 'ring chromosome 15' SubClassOf 'chromosome 15 disorder' http://purl.obolibrary.org/obo/MONDO_0019903 ring chromosome 2 'ring chromosome 2' SubClassOf 'ring chromosome disorder' 'ring chromosome 2' SubClassOf 'chromosome 2 disorder' http://purl.obolibrary.org/obo/MONDO_0019902 monosomy 13q34 'monosomy 13q34' SubClassOf 'partial deletion of the long arm of chromosome 13' 'monosomy 13q34' SubClassOf 'syndromic anorectal malformation' http://purl.obolibrary.org/obo/MONDO_0019905 ring chromosome 9 'ring chromosome 9' SubClassOf 'ring chromosome disorder' 'ring chromosome 9' SubClassOf 'chromosome 9 disorder' http://purl.obolibrary.org/obo/MONDO_0019904 ring chromosome 3 'ring chromosome 3' SubClassOf 'ring chromosome disorder' 'ring chromosome 3' SubClassOf 'chromosome 3 disorder' http://purl.obolibrary.org/obo/MONDO_0019901 non-distal monosomy 20q 'non-distal monosomy 20q' SubClassOf 'partial deletion of the long arm of chromosome 20' http://purl.obolibrary.org/obo/MONDO_0019900 non-distal monosomy 12q 'non-distal monosomy 12q' SubClassOf 'partial deletion of the long arm of chromosome 12' http://purl.obolibrary.org/obo/MONDO_0007927 congenital macroglossia 'congenital macroglossia' SubClassOf 'macroglossia' http://purl.obolibrary.org/obo/MONDO_0007937 renal hypomagnesemia 2 'renal hypomagnesemia 2' SubClassOf 'familial primary hypomagnesemia with hypocalcuria' http://purl.obolibrary.org/obo/MONDO_0007934 benign concentric annular macular dystrophy 'benign concentric annular macular dystrophy' SubClassOf 'genetic macular dystrophy' http://purl.obolibrary.org/obo/MONDO_0007935 cystoid macular edema 'cystoid macular edema' SubClassOf 'macular retinal edema' http://purl.obolibrary.org/obo/MONDO_0007931 vitelliform macular dystrophy 2 'vitelliform macular dystrophy 2' SubClassOf 'vitelliform macular dystrophy' http://purl.obolibrary.org/obo/MONDO_0019918 maternal uniparental disomy of chromosome 21 'maternal uniparental disomy of chromosome 21' SubClassOf 'uniparental disomy' 'maternal uniparental disomy of chromosome 21' SubClassOf 'chromosome 21 disorder' http://purl.obolibrary.org/obo/MONDO_0019917 maternal uniparental disomy of chromosome 20 'maternal uniparental disomy of chromosome 20' SubClassOf 'uniparental disomy' 'maternal uniparental disomy of chromosome 20' SubClassOf 'chromosome 20 disorder' http://purl.obolibrary.org/obo/MONDO_0019919 maternal uniparental disomy of chromosome 22 'maternal uniparental disomy of chromosome 22' SubClassOf 'uniparental disomy' 'maternal uniparental disomy of chromosome 22' SubClassOf 'chromosome 22 disorder' http://purl.obolibrary.org/obo/MONDO_0019914 maternal uniparental disomy of chromosome 9 'maternal uniparental disomy of chromosome 9' SubClassOf 'chromosome 9 disorder' 'maternal uniparental disomy of chromosome 9' SubClassOf 'uniparental disomy' http://purl.obolibrary.org/obo/MONDO_0019913 silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 'silver-Russell syndrome due to maternal uniparental disomy of chromosome 7' SubClassOf 'uniparental disomy' 'silver-Russell syndrome due to maternal uniparental disomy of chromosome 7' SubClassOf 'chromosome 7 disorder' 'silver-Russell syndrome due to maternal uniparental disomy of chromosome 7' SubClassOf 'Silver-Russell syndrome' http://purl.obolibrary.org/obo/MONDO_0019916 maternal uniparental disomy of chromosome 16 'maternal uniparental disomy of chromosome 16' SubClassOf 'chromosome 16 disorder' 'maternal uniparental disomy of chromosome 16' SubClassOf 'syndromic anorectal malformation' 'maternal uniparental disomy of chromosome 16' SubClassOf 'uniparental disomy' http://purl.obolibrary.org/obo/MONDO_0019915 maternal uniparental disomy of chromosome 14 'maternal uniparental disomy of chromosome 14' SubClassOf 'chromosome 14 disorder' 'maternal uniparental disomy of chromosome 14' SubClassOf 'motor developmental delay due to 14q32.2 paternally expressed gene defect' 'maternal uniparental disomy of chromosome 14' SubClassOf 'uniparental disomy' http://purl.obolibrary.org/obo/MONDO_0019910 maternal uniparental disomy of chromosome 2 'maternal uniparental disomy of chromosome 2' SubClassOf 'uniparental disomy' 'maternal uniparental disomy of chromosome 2' SubClassOf 'chromosome 2 disorder' http://purl.obolibrary.org/obo/MONDO_0019912 maternal uniparental disomy of chromosome 6 'maternal uniparental disomy of chromosome 6' SubClassOf 'chromosome 6 disorder' 'maternal uniparental disomy of chromosome 6' SubClassOf 'uniparental disomy' http://purl.obolibrary.org/obo/MONDO_0019911 maternal uniparental disomy of chromosome 4 'maternal uniparental disomy of chromosome 4' SubClassOf 'chromosome 4 disorder' 'maternal uniparental disomy of chromosome 4' SubClassOf 'uniparental disomy' http://purl.obolibrary.org/obo/MONDO_0007947 Marfan syndrome 'Marfan syndrome' SubClassOf 'syndromic disease' 'Marfan syndrome' SubClassOf 'Marfan and Marfan-related disorder' 'Marfan syndrome' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0007946 jaw-winking syndrome 'jaw-winking syndrome' SubClassOf 'cranial nerve neuropathy' 'jaw-winking syndrome' SubClassOf 'eyelids malposition disorder' http://purl.obolibrary.org/obo/MONDO_0007943 Nager acrofacial dysostosis 'Nager acrofacial dysostosis' SubClassOf 'malposition of external canthus' 'Nager acrofacial dysostosis' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Nager acrofacial dysostosis' SubClassOf 'genetic syndromic Pierre Robin syndrome' 'Nager acrofacial dysostosis' SubClassOf 'genetic otorhinolaryngologic disease' 'Nager acrofacial dysostosis' SubClassOf 'syndromic palpebral coloboma' 'Nager acrofacial dysostosis' SubClassOf 'acrofacial dysostosis' 'Nager acrofacial dysostosis' SubClassOf 'branchial arch or oral-acral syndrome' http://purl.obolibrary.org/obo/MONDO_0019929 49,XXXXY syndrome '49,XXXXY syndrome' SubClassOf 'pentasomy' '49,XXXXY syndrome' SubClassOf 'chromosome X disorder' '49,XXXXY syndrome' SubClassOf 'syndromic urogenital tract malformation' '49,XXXXY syndrome' SubClassOf 'male infertility' '49,XXXXY syndrome' SubClassOf 'genetic nervous system disorder' '49,XXXXY syndrome' SubClassOf 'syndromic intellectual disability' '49,XXXXY syndrome' SubClassOf 'sex chromosome disorder of sex development' '49,XXXXY syndrome' SubClassOf 'genetic infertility' http://purl.obolibrary.org/obo/MONDO_0019928 48,XXXY syndrome '48,XXXY syndrome' SubClassOf 'genetic nervous system disorder' '48,XXXY syndrome' SubClassOf 'chromosome X disorder' '48,XXXY syndrome' SubClassOf 'sex chromosome disorder of sex development' '48,XXXY syndrome' SubClassOf 'male infertility' '48,XXXY syndrome' SubClassOf 'syndromic intellectual disability' '48,XXXY syndrome' SubClassOf 'tetrasomy' '48,XXXY syndrome' SubClassOf 'syndromic urogenital tract malformation' '48,XXXY syndrome' SubClassOf 'genetic infertility' http://purl.obolibrary.org/obo/MONDO_0019925 paternal uniparental disomy of chromosome 21 'paternal uniparental disomy of chromosome 21' SubClassOf 'chromosome 21 disorder' 'paternal uniparental disomy of chromosome 21' SubClassOf 'uniparental disomy' http://purl.obolibrary.org/obo/MONDO_0019924 paternal uniparental disomy of chromosome 20 'paternal uniparental disomy of chromosome 20' SubClassOf 'uniparental disomy' 'paternal uniparental disomy of chromosome 20' SubClassOf 'chromosome 20 disorder' http://purl.obolibrary.org/obo/MONDO_0019926 X small rings 'X small rings' SubClassOf 'ring chromosome disorder' 'X small rings' SubClassOf 'inherited primary ovarian failure' 'X small rings' SubClassOf 'chromosome X disorder' http://purl.obolibrary.org/obo/MONDO_0019921 paternal uniparental disomy of chromosome 6 'paternal uniparental disomy of chromosome 6' SubClassOf 'chromosome 6 disorder' 'paternal uniparental disomy of chromosome 6' SubClassOf 'uniparental disomy' http://purl.obolibrary.org/obo/MONDO_0019920 paternal uniparental disomy of chromosome 5 'paternal uniparental disomy of chromosome 5' SubClassOf 'uniparental disomy' 'paternal uniparental disomy of chromosome 5' SubClassOf 'chromosome 5 disorder' http://purl.obolibrary.org/obo/MONDO_0019923 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 'Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11' SubClassOf 'Beckwith-Wiedemann syndrome' 'Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11' SubClassOf 'chromosome 11 disorder' 'Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11' SubClassOf 'uniparental disomy' http://purl.obolibrary.org/obo/MONDO_0019922 paternal uniparental disomy of chromosome 7 'paternal uniparental disomy of chromosome 7' SubClassOf 'uniparental disomy' 'paternal uniparental disomy of chromosome 7' SubClassOf 'chromosome 7 disorder' http://purl.obolibrary.org/obo/MONDO_0007949 Marshall syndrome 'Marshall syndrome' SubClassOf 'syndromic myopia' 'Marshall syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'Marshall syndrome' SubClassOf 'spondyloepiphyseal dysplasia' 'Marshall syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007958 familial medullary thyroid carcinoma 'familial medullary thyroid carcinoma' SubClassOf 'medullary thyroid gland carcinoma' 'familial medullary thyroid carcinoma' SubClassOf 'multiple endocrine neoplasia type 2' 'familial medullary thyroid carcinoma' SubClassOf 'inherited neuroendocrine tumor' 'familial medullary thyroid carcinoma' EquivalentTo 'medullary thyroid gland carcinoma' and ('has modifier' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0007956 Pai syndrome 'Pai syndrome' SubClassOf 'orofacial clefting syndrome' 'Pai syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'Pai syndrome' SubClassOf 'frontonasal dysplasia' http://purl.obolibrary.org/obo/MONDO_0007953 Binder syndrome 'Binder syndrome' SubClassOf 'congenital nervous system disorder' 'Binder syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Binder syndrome' SubClassOf 'nasal cavity disorder' 'Binder syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'Binder syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0019935 isochromosome Y 'isochromosome Y' SubClassOf 'chromosome Y disorder' http://purl.obolibrary.org/obo/MONDO_0019938 anorectal malformation 'anorectal malformation' SubClassOf 'digestive tract malformation' http://purl.obolibrary.org/obo/MONDO_0019931 Leydig cell hypoplasia due to partial LH resistance 'Leydig cell hypoplasia due to partial LH resistance' SubClassOf 'Leydig cell hypoplasia, type 1' http://purl.obolibrary.org/obo/MONDO_0019934 polyploidy 'polyploidy' SubClassOf 'chromosomal disorder' http://purl.obolibrary.org/obo/MONDO_0019930 Leydig cell hypoplasia due to complete LH resistance 'Leydig cell hypoplasia due to complete LH resistance' SubClassOf 'Leydig cell hypoplasia, type 1' http://purl.obolibrary.org/obo/MONDO_0007960 obsolete megacystis-microcolon-intestinal hypoperistalsis syndrome 'obsolete megacystis-microcolon-intestinal hypoperistalsis syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019947 rippling muscle disease 2 'rippling muscle disease 2' SubClassOf 'inherited rippling muscle disease' http://purl.obolibrary.org/obo/MONDO_0019946 ligneous conjunctivitis 'ligneous conjunctivitis' SubClassOf 'has modifier' some 'rare' 'ligneous conjunctivitis' SubClassOf 'chronic conjunctivitis' http://purl.obolibrary.org/obo/MONDO_0019949 zebra body myopathy 'zebra body myopathy' SubClassOf 'alpha-actinopathy' http://purl.obolibrary.org/obo/MONDO_0019948 reducing body myopathy 'reducing body myopathy' SubClassOf 'congenital myopathy' http://purl.obolibrary.org/obo/MONDO_0019943 hereditary continuous muscle fiber activity 'hereditary continuous muscle fiber activity' SubClassOf 'syndromic disease' 'hereditary continuous muscle fiber activity' SubClassOf 'non-dystrophic myopathy' http://purl.obolibrary.org/obo/MONDO_0019942 distal arthrogryposis 'distal arthrogryposis' SubClassOf 'arthrogryposis syndrome' 'distal arthrogryposis' SubClassOf 'muscle tissue disorder' 'distal arthrogryposis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0019941 hereditary sensory and autonomic neuropathy type 2 'hereditary sensory and autonomic neuropathy type 2' SubClassOf 'hereditary sensory and autonomic neuropathy' http://purl.obolibrary.org/obo/MONDO_0019940 hypertrichosis-acromegaloid facial appearance syndrome 'hypertrichosis-acromegaloid facial appearance syndrome' SubClassOf 'hypertrichosis' 'hypertrichosis-acromegaloid facial appearance syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007979 metachondromatosis 'metachondromatosis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007977 mesomelic dysplasia, Kantaputra type 'mesomelic dysplasia, Kantaputra type' SubClassOf 'mesomelic and rhizo-mesomelic dysplasia' http://purl.obolibrary.org/obo/MONDO_0007970 melorheostosis 'melorheostosis' SubClassOf 'osteopetrosis' http://purl.obolibrary.org/obo/MONDO_0007971 delayed membranous cranial ossification 'delayed membranous cranial ossification' SubClassOf 'cranial malformation' 'delayed membranous cranial ossification' SubClassOf 'primary bone dysplasia' http://purl.obolibrary.org/obo/MONDO_0019950 congenital muscular dystrophy 'congenital muscular dystrophy' SubClassOf 'congenital nervous system disorder' 'congenital muscular dystrophy' SubClassOf 'muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0019952 congenital myopathy 'congenital myopathy' SubClassOf 'has modifier' some 'congenital' 'congenital myopathy' SubClassOf 'non-dystrophic myopathy' http://purl.obolibrary.org/obo/MONDO_0019951 rigid spine syndrome 'rigid spine syndrome' SubClassOf 'congenital muscular dystrophy' 'rigid spine syndrome' SubClassOf 'qualitative or quantitative defects of selenoprotein N1' 'rigid spine syndrome' SubClassOf 'qualitative or quantitative defects of desmin' http://purl.obolibrary.org/obo/MONDO_0007989 congenital microcoria 'congenital microcoria' SubClassOf 'iridogoniodysgenesis' 'congenital microcoria' SubClassOf 'has modifier' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0007987 Kniest dysplasia 'Kniest dysplasia' SubClassOf 'hereditary disorder of connective tissue' 'Kniest dysplasia' SubClassOf 'spondylometaphyseal dysplasia' 'Kniest dysplasia' SubClassOf 'genetic syndromic Pierre Robin syndrome' 'Kniest dysplasia' SubClassOf 'type 2 collagenopathy' 'Kniest dysplasia' SubClassOf 'spondyloepiphyseal dysplasia' 'Kniest dysplasia' SubClassOf 'genetic otorhinolaryngologic disease' 'Kniest dysplasia' SubClassOf 'disease has feature' some 'collagenopathy' http://purl.obolibrary.org/obo/MONDO_0007988 autosomal dominant primary microcephaly 'autosomal dominant primary microcephaly' SubClassOf 'isolated congenital microcephaly' 'autosomal dominant primary microcephaly' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'autosomal dominant primary microcephaly' SubClassOf 'intellectual disability, autosomal dominant' http://purl.obolibrary.org/obo/MONDO_0007986 metatropic dysplasia 'metatropic dysplasia' SubClassOf 'TRPV4-related bone disorder' 'metatropic dysplasia' SubClassOf 'spondyloepiphyseal dysplasia' 'metatropic dysplasia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007983 Schmid metaphyseal chondrodysplasia 'Schmid metaphyseal chondrodysplasia' SubClassOf 'multiple metaphyseal dysplasia' 'Schmid metaphyseal chondrodysplasia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007984 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome 'metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome' SubClassOf 'multiple metaphyseal dysplasia' 'metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0005321 Fuchs' endothelial dystrophy 'Fuchs' endothelial dystrophy' SubClassOf 'posterior corneal dystrophy' 'Fuchs' endothelial dystrophy' SubClassOf 'corneal endothelial dystrophy' 'Fuchs' endothelial dystrophy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007982 metaphyseal chondrodysplasia, Jansen type 'metaphyseal chondrodysplasia, Jansen type' SubClassOf 'genetic disorder' 'metaphyseal chondrodysplasia, Jansen type' SubClassOf 'multiple metaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0017306 disorder of phenylalanine metabolism 'disorder of phenylalanine metabolism' SubClassOf 'inherited amino acid metabolic disorder' 'disorder of phenylalanine metabolism' SubClassOf 'inborn disorder of phenylalanin or tyrosine metabolism' http://purl.obolibrary.org/obo/MONDO_0017307 disorder of tyrosine metabolism 'disorder of tyrosine metabolism' SubClassOf 'inborn disorder of phenylalanin or tyrosine metabolism' 'disorder of tyrosine metabolism' SubClassOf 'inherited amino acid metabolic disorder' http://purl.obolibrary.org/obo/MONDO_0017309 neonatal Marfan syndrome 'neonatal Marfan syndrome' SubClassOf 'Marfan syndrome' 'neonatal Marfan syndrome' SubClassOf 'vascular disease' 'neonatal Marfan syndrome' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0017302 qualitative or quantitative defects of troponin 'qualitative or quantitative defects of troponin' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' http://purl.obolibrary.org/obo/MONDO_0017303 qualitative or quantitative defects of tropomyosin 'qualitative or quantitative defects of tropomyosin' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' http://purl.obolibrary.org/obo/MONDO_0017304 ocular albinism 'ocular albinism' SubClassOf 'oculocutaneous or ocular albinism' 'ocular albinism' SubClassOf 'disorder of melanin metabolism' http://purl.obolibrary.org/obo/MONDO_0017305 syndromic oculocutaneous albinism 'syndromic oculocutaneous albinism' SubClassOf 'disorder of melanin metabolism' 'syndromic oculocutaneous albinism' SubClassOf 'genetic skin disease' 'syndromic oculocutaneous albinism' SubClassOf 'oculocutaneous or ocular albinism' 'syndromic oculocutaneous albinism' SubClassOf 'hypopigmentation of the skin' http://purl.obolibrary.org/obo/MONDO_0017301 pericardial and diaphragmatic defect 'pericardial and diaphragmatic defect' SubClassOf 'syndromic diaphragmatic or abdominal wall malformation' http://purl.obolibrary.org/obo/MONDO_0007998 microspherophakia-metaphyseal dysplasia syndrome 'microspherophakia-metaphyseal dysplasia syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007992 microcornea-glaucoma-absent frontal sinuses syndrome 'microcornea-glaucoma-absent frontal sinuses syndrome' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0007990 multiple benign circumferential skin creases on limbs 'multiple benign circumferential skin creases on limbs' SubClassOf 'skin disease' 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 'genetic multiple congenital anomalies/dysmorphic syndrome' 'microcephaly-deafness-intellectual disability syndrome' SubClassOf 'congenital nervous system disorder' 'microcephaly-deafness-intellectual disability syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'microcephaly-deafness-intellectual disability syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0017317 phakomatosis pigmentokeratotica 'phakomatosis pigmentokeratotica' SubClassOf 'nervous system benign neoplasm' 'phakomatosis pigmentokeratotica' SubClassOf 'neurocutaneous syndrome' 'phakomatosis pigmentokeratotica' SubClassOf 'inherited skin tumor' 'phakomatosis pigmentokeratotica' SubClassOf 'genetic nervous system disorder' 'phakomatosis pigmentokeratotica' SubClassOf 'melanocytic nevus' 'phakomatosis pigmentokeratotica' SubClassOf 'developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0017318 phakomatosis pigmentovascularis 'phakomatosis pigmentovascularis' SubClassOf 'neurocutaneous syndrome' 'phakomatosis pigmentovascularis' SubClassOf 'eye disease' 'phakomatosis pigmentovascularis' SubClassOf 'developmental defect during embryogenesis' 'phakomatosis pigmentovascularis' SubClassOf 'has modifier' some 'rare' 'phakomatosis pigmentovascularis' SubClassOf 'hyperpigmentation of the skin' http://purl.obolibrary.org/obo/MONDO_0019979 renal hypoplasia, unilateral 'renal hypoplasia, unilateral' SubClassOf 'renal hypoplasia' http://purl.obolibrary.org/obo/MONDO_0017319 hereditary elliptocytosis 'hereditary elliptocytosis' SubClassOf 'normocytic anemia' http://purl.obolibrary.org/obo/MONDO_0017313 disorder of folate metabolism and transport 'disorder of folate metabolism and transport' SubClassOf 'disorder of vitamin and non-protein cofactor absorption and transport' http://purl.obolibrary.org/obo/MONDO_0017314 Ehlers-Danlos syndrome, vascular type 'Ehlers-Danlos syndrome, vascular type' SubClassOf 'has modifier' some 'rare' 'Ehlers-Danlos syndrome, vascular type' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, vascular type' SubClassOf 'vascular disease' http://purl.obolibrary.org/obo/MONDO_0019978 Robinow syndrome 'Robinow syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Robinow syndrome' SubClassOf 'mesomelic and rhizo-mesomelic dysplasia' 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' 'short stature-webbed neck-heart disease syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0017316 short stature-deafness-neutrophil dysfunction-dysmorphism syndrome 'short stature-deafness-neutrophil dysfunction-dysmorphism syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0017310 Marfan and Marfan-related disorder 'Marfan and Marfan-related disorder' SubClassOf 'hereditary disorder of connective tissue' http://purl.obolibrary.org/obo/MONDO_0017312 Perrault syndrome 'Perrault syndrome' SubClassOf 'genetic infertility' 'Perrault syndrome' SubClassOf 'female infertility' 'Perrault syndrome' SubClassOf 'syndromic genetic hearing loss' 'Perrault syndrome' SubClassOf 'mitochondrial oxidative phosphorylation disorder' 'Perrault syndrome' SubClassOf 'autosomal recessive disease' 'Perrault syndrome' SubClassOf 'inherited primary ovarian failure' http://purl.obolibrary.org/obo/MONDO_0017329 familial vesicoureteral reflux 'familial vesicoureteral reflux' SubClassOf 'vesicoureteral reflux' 'familial vesicoureteral reflux' SubClassOf 'non-syndromic urogenital tract malformation of male and female' 'familial vesicoureteral reflux' EquivalentTo 'vesicoureteral reflux' and ('has modifier' some 'inherited') 'familial vesicoureteral reflux' SubClassOf 'genetic disorder' 'familial vesicoureteral reflux' SubClassOf 'disease of genitourinary system' http://purl.obolibrary.org/obo/MONDO_0017324 autosomal recessive hypophosphatemic rickets 'autosomal recessive hypophosphatemic rickets' SubClassOf 'hereditary hypophosphatemic rickets' 'autosomal recessive hypophosphatemic rickets' SubClassOf 'autosomal recessive disease' 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 'childhood-onset epilepsy syndrome' 'early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019986 sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy 'sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy' SubClassOf 'sporadic idiopathic steroid-resistant nephrotic syndrome' http://purl.obolibrary.org/obo/HP_0001266 Choreoathetosis 'Choreoathetosis' SubClassOf 'Abnormality of movement' 'Choreoathetosis' SubClassOf 'Abnormal central motor function' http://purl.obolibrary.org/obo/MONDO_0017320 phosphoenolpyruvate carboxykinase deficiency 'phosphoenolpyruvate carboxykinase deficiency' SubClassOf 'gluconeogenesis disorder' http://purl.obolibrary.org/obo/MONDO_0017321 pili torti-onychodysplasia syndrome 'pili torti-onychodysplasia syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0019982 bilateral multicystic dysplastic kidney 'bilateral multicystic dysplastic kidney' SubClassOf 'multicystic dysplastic kidney' http://purl.obolibrary.org/obo/MONDO_0017322 disorders of vitamin D metabolism 'disorders of vitamin D metabolism' SubClassOf 'endocrine system disease' 'disorders of vitamin D metabolism' SubClassOf 'vitamin metabolic disorder' http://purl.obolibrary.org/obo/MONDO_0017323 hypocalcemic rickets 'hypocalcemic rickets' SubClassOf 'disorders of vitamin D metabolism' 'hypocalcemic rickets' SubClassOf 'rickets' http://purl.obolibrary.org/obo/MONDO_0019981 unilateral multicystic dysplastic kidney 'unilateral multicystic dysplastic kidney' SubClassOf 'multicystic dysplastic kidney' http://purl.obolibrary.org/obo/MONDO_0019980 renal hypoplasia, bilateral 'renal hypoplasia, bilateral' SubClassOf 'renal hypoplasia' http://purl.obolibrary.org/obo/MONDO_0017339 exfoliative ichthyosis 'exfoliative ichthyosis' SubClassOf 'autosomal recessive congenital ichthyosis' http://purl.obolibrary.org/obo/HP_0025246 Trichilemmal cyst 'Trichilemmal cyst' SubClassOf 'Abnormality of skin morphology' http://purl.obolibrary.org/obo/MONDO_0019998 gastroduodenal malformation 'gastroduodenal malformation' SubClassOf 'digestive tract malformation' http://purl.obolibrary.org/obo/MONDO_0017335 microtriplication 11q24.1 'microtriplication 11q24.1' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'microtriplication 11q24.1' SubClassOf 'chromosome 11q trisomy' 'microtriplication 11q24.1' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0017336 fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency 'fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency' SubClassOf 'hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0017337 inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency 'inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency' SubClassOf 'has modifier' some 'rare' 'inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency' SubClassOf 'chronic primary adrenal insufficiency' http://purl.obolibrary.org/obo/MONDO_0017338 fatal multiple mitochondrial dysfunctions syndrome 'fatal multiple mitochondrial dysfunctions syndrome' SubClassOf 'cerebral organic aciduria' 'fatal multiple mitochondrial dysfunctions syndrome' SubClassOf 'neurometabolic disease' 'fatal multiple mitochondrial dysfunctions syndrome' SubClassOf 'inherited lipoic acid biosynthesis defect' http://purl.obolibrary.org/obo/MONDO_0019999 intestinal malformation 'intestinal malformation' SubClassOf 'digestive tract malformation' http://purl.obolibrary.org/obo/MONDO_0017331 Pilotto syndrome 'Pilotto syndrome' SubClassOf 'orofacial clefting syndrome' http://purl.obolibrary.org/obo/MONDO_0019994 maternal uniparental disomy of chromosome 13 'maternal uniparental disomy of chromosome 13' SubClassOf 'uniparental disomy' 'maternal uniparental disomy of chromosome 13' SubClassOf 'chromosome 13 disorder' http://purl.obolibrary.org/obo/MONDO_0017334 12q15q21.1 microdeletion syndrome '12q15q21.1 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 12' http://purl.obolibrary.org/obo/MONDO_0019995 peripheral resistance to thyroid hormones 'peripheral resistance to thyroid hormones' SubClassOf 'peripheral hypothyroidism' http://purl.obolibrary.org/obo/MONDO_0019992 pseudohypoparathyroidism 'pseudohypoparathyroidism' SubClassOf 'inherited renal tubular disease' 'pseudohypoparathyroidism' SubClassOf 'inborn metal metabolism disorder' 'pseudohypoparathyroidism' SubClassOf 'developmental anomaly of metabolic origin' 'pseudohypoparathyroidism' SubClassOf 'genetic hypoparathyroidism' http://purl.obolibrary.org/obo/HP_0025236 Somnambulism 'Somnambulism' SubClassOf 'Parasomnia' http://purl.obolibrary.org/obo/MONDO_0017359 3-methylglutaconic aciduria '3-methylglutaconic aciduria' SubClassOf 'classic organic aciduria' http://purl.obolibrary.org/obo/MONDO_0017353 neonatal glycine encephalopathy 'neonatal glycine encephalopathy' SubClassOf 'glycine encephalopathy' http://purl.obolibrary.org/obo/MONDO_0017354 infantile glycine encephalopathy 'infantile glycine encephalopathy' SubClassOf 'glycine encephalopathy' http://purl.obolibrary.org/obo/MONDO_0017355 inborn disorder of proline metabolism 'inborn disorder of proline metabolism' SubClassOf 'inborn disorder of ornithine or proline metabolism' 'inborn disorder of proline metabolism' SubClassOf 'inherited amino acid metabolic disorder' http://purl.obolibrary.org/obo/MONDO_0017356 inborn disorder of ornithine metabolism 'inborn disorder of ornithine metabolism' SubClassOf 'inborn disorder of ornithine or proline metabolism' 'inborn disorder of ornithine metabolism' SubClassOf 'inherited amino acid metabolic disorder' http://purl.obolibrary.org/obo/MONDO_0017350 inborn disorder of tryptophan metabolism 'inborn disorder of tryptophan metabolism' SubClassOf 'inherited amino acid metabolic disorder' http://purl.obolibrary.org/obo/MONDO_0017351 inborn disorder of lysine and hydroxylysine metabolism 'inborn disorder of lysine and hydroxylysine metabolism' SubClassOf 'inborn disorder of aspartate family metabolism' http://purl.obolibrary.org/obo/MONDO_0017352 disorder of glutamine metabolism 'disorder of glutamine metabolism' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' http://purl.obolibrary.org/obo/MONDO_0017365 hereditary acrokeratotic poikiloderma, Weary type 'hereditary acrokeratotic poikiloderma, Weary type' SubClassOf 'Kindler syndrome' http://purl.obolibrary.org/obo/MONDO_0017366 hereditary pheochromocytoma-paraganglioma 'hereditary pheochromocytoma-paraganglioma' SubClassOf 'adrenal gland disease' 'hereditary pheochromocytoma-paraganglioma' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0017360 vitamin B12-unresponsive methylmalonic acidemia type mut0 'vitamin B12-unresponsive methylmalonic acidemia type mut0' SubClassOf 'methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency' http://purl.obolibrary.org/obo/MONDO_0017380 juvenile polyposis syndrome 'juvenile polyposis syndrome' SubClassOf 'intestinal polyposis syndrome' 'juvenile polyposis syndrome' SubClassOf 'genetic intestinal polyposis' http://purl.obolibrary.org/obo/MONDO_0017379 polyneuropathy-intellectual disability-acromicria-premature menopause syndrome 'polyneuropathy-intellectual disability-acromicria-premature menopause syndrome' SubClassOf 'disease has feature' some 'premature menopause' 'polyneuropathy-intellectual disability-acromicria-premature menopause syndrome' SubClassOf 'syndromic intellectual disability' 'polyneuropathy-intellectual disability-acromicria-premature menopause syndrome' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0030353 Joubert syndrome 38 'Joubert syndrome 38' SubClassOf 'Joubert syndrome' http://purl.obolibrary.org/obo/MONDO_0017377 preaxial polydactyly-colobomata-intellectual disability syndrome 'preaxial polydactyly-colobomata-intellectual disability syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '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_0017391 Grayson-Wilbrandt corneal dystrophy 'Grayson-Wilbrandt corneal dystrophy' SubClassOf 'superficial corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0017392 pre-descemet corneal dystrophy 'pre-descemet corneal dystrophy' SubClassOf 'stromal corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0044970 mitochondrial disease 'mitochondrial disease' SubClassOf 'disease' http://purl.obolibrary.org/obo/MONDO_0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria 'tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria' SubClassOf 'phenylketonuria' http://purl.obolibrary.org/obo/MONDO_0017382 familial clubfoot due to 5q31 microdeletion 'familial clubfoot due to 5q31 microdeletion' SubClassOf 'clubfoot' http://purl.obolibrary.org/obo/MONDO_0017383 familial clubfoot due to PITX1 point mutation 'familial clubfoot due to PITX1 point mutation' SubClassOf 'clubfoot' 'familial clubfoot due to PITX1 point mutation' SubClassOf 'patellar dysostosis' http://purl.obolibrary.org/obo/MONDO_0017385 malignant migrating partial seizures of infancy 'malignant migrating partial seizures of infancy' SubClassOf 'neonatal epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0017397 constitutional dyserythropoietic anemia 'constitutional dyserythropoietic anemia' SubClassOf 'anemia' http://purl.obolibrary.org/obo/MONDO_0017399 frontotemporal dementia, right temporal atrophy variant 'frontotemporal dementia, right temporal atrophy variant' SubClassOf 'semantic dementia' http://purl.obolibrary.org/obo/MONDO_0017393 blepharophimosis - intellectual disability syndrome 'blepharophimosis - intellectual disability syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'blepharophimosis - intellectual disability syndrome' SubClassOf 'congenital nervous system disorder' 'blepharophimosis - intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007804 Pallister-Hall syndrome 'Pallister-Hall syndrome' SubClassOf 'syndromic renal or urinary tract malformation' 'Pallister-Hall syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Pallister-Hall syndrome' SubClassOf 'non-acquired combined pituitary hormone deficiency' 'Pallister-Hall syndrome' SubClassOf 'syndromic anorectal malformation' 'Pallister-Hall syndrome' SubClassOf 'syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0007800 chromosome 18p deletion syndrome 'chromosome 18p deletion syndrome' SubClassOf 'partial deletion of chromosome 18' 'chromosome 18p deletion syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007808 ichthyosis hystrix of Curth-Macklin 'ichthyosis hystrix of Curth-Macklin' SubClassOf 'keratinopathic ichthyosis' http://purl.obolibrary.org/obo/MONDO_0007809 ichthyosis hystrix gravior 'ichthyosis hystrix gravior' SubClassOf 'keratinopathic ichthyosis' http://purl.obolibrary.org/obo/MONDO_0007813 superficial epidermolytic ichthyosis 'superficial epidermolytic ichthyosis' SubClassOf 'exfoliative ichthyosis' 'superficial epidermolytic ichthyosis' SubClassOf 'keratinopathic ichthyosis' http://purl.obolibrary.org/obo/MONDO_0007811 ichthyosis-cheek-eyebrow syndrome 'ichthyosis-cheek-eyebrow syndrome' SubClassOf 'autosomal ichthyosis syndrome' http://purl.obolibrary.org/obo/MONDO_0007819 solitary median maxillary central incisor syndrome 'solitary median maxillary central incisor syndrome' SubClassOf 'microform holoprosencephaly' 'solitary median maxillary central incisor syndrome' SubClassOf 'holoprosencephaly 3' http://purl.obolibrary.org/obo/MONDO_0007818 Hyper-IgE recurrent infection syndrome 1 'Hyper-IgE recurrent infection syndrome 1' SubClassOf 'autosomal dominant disease' 'Hyper-IgE recurrent infection syndrome 1' SubClassOf 'hyper-IgE syndrome' http://purl.obolibrary.org/obo/MONDO_0007820 fused mandibular incisors 'fused mandibular incisors' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0019804 tracheomalacia 'tracheomalacia' SubClassOf 'genetic otorhinolaryngological malformation' 'tracheomalacia' SubClassOf 'non-syndromic respiratory or mediastinal malformation' 'tracheomalacia' SubClassOf 'respiratory malformation' 'tracheomalacia' SubClassOf 'tracheal disorder' 'tracheomalacia' SubClassOf 'tracheal anomaly' http://purl.obolibrary.org/obo/MONDO_0019803 angioma serpiginosum 'angioma serpiginosum' SubClassOf 'capillary malformation' 'angioma serpiginosum' SubClassOf 'skin hemangioma' 'angioma serpiginosum' SubClassOf 'dermis tumor' 'angioma serpiginosum' SubClassOf 'has modifier' some 'rare' 'angioma serpiginosum' SubClassOf 'skin vascular disease' http://purl.obolibrary.org/obo/MONDO_0019800 chronic hepatic porphyria 'chronic hepatic porphyria' SubClassOf 'hepatic porphyria' http://purl.obolibrary.org/obo/MONDO_0007837 Johnson neuroectodermal syndrome 'Johnson neuroectodermal syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Johnson neuroectodermal syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'Johnson neuroectodermal syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Johnson neuroectodermal syndrome' SubClassOf 'genetic nervous system disorder' 'Johnson neuroectodermal syndrome' SubClassOf 'congenital nervous system disorder' 'Johnson neuroectodermal syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007838 Jacobsen syndrome 'Jacobsen syndrome' SubClassOf 'syndromic constitutional thrombocytopenia' 'Jacobsen syndrome' SubClassOf 'syndromic disease' 'Jacobsen syndrome' SubClassOf 'partial deletion of the long arm of chromosome 11' 'Jacobsen syndrome' SubClassOf 'eyelids malposition disorder' http://purl.obolibrary.org/obo/MONDO_0007836 IVIC syndrome 'IVIC syndrome' SubClassOf 'dysostosis of genetic origin' 'IVIC syndrome' SubClassOf 'congenital limb malformation' http://purl.obolibrary.org/obo/MONDO_0007839 Aase-Smith syndrome 'Aase-Smith syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Aase-Smith syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Aase-Smith syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'Aase-Smith syndrome' SubClassOf 'central nervous system malformation' 'Aase-Smith syndrome' SubClassOf 'orofacial clefting syndrome' 'Aase-Smith syndrome' SubClassOf 'congenital nervous system disorder' 'Aase-Smith syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0007848 autosomal dominant keratitis 'autosomal dominant keratitis' SubClassOf 'corneal dystrophy' 'autosomal dominant keratitis' SubClassOf 'autosomal dominant disease' 'autosomal dominant keratitis' SubClassOf 'keratitis' http://purl.obolibrary.org/obo/MONDO_0007846 KBG syndrome 'KBG syndrome' SubClassOf 'congenital nervous system disorder' 'KBG syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'KBG syndrome' SubClassOf 'syndromic intellectual disability' 'KBG syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'KBG syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0007842 Ehlers-Danlos syndrome type 11 'Ehlers-Danlos syndrome type 11' SubClassOf 'Ehlers-Danlos syndrome' http://purl.obolibrary.org/obo/MONDO_0007841 coxopodopatellar syndrome 'coxopodopatellar syndrome' SubClassOf 'patellar dysostosis' http://purl.obolibrary.org/obo/MONDO_0019828 pituitary stalk interruption syndrome 'pituitary stalk interruption syndrome' SubClassOf 'non-acquired pituitary hormone deficiency' 'pituitary stalk interruption syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0019824 non-acquired pituitary hormone deficiency 'non-acquired pituitary hormone deficiency' SubClassOf 'pituitary deficiency' 'non-acquired pituitary hormone deficiency' SubClassOf 'genetic endocrine growth disease' http://purl.obolibrary.org/obo/MONDO_0007857 keratosis palmaris et plantaris-clinodactyly syndrome 'keratosis palmaris et plantaris-clinodactyly syndrome' SubClassOf 'diffuse palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0007856 palmoplantar keratoderma-esophageal carcinoma syndrome 'palmoplantar keratoderma-esophageal carcinoma syndrome' SubClassOf 'genetic gastro-esophageal disease' 'palmoplantar keratoderma-esophageal carcinoma syndrome' SubClassOf 'focal palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0007854 keratolytic winter erythema 'keratolytic winter erythema' SubClassOf 'epidermal disease' http://purl.obolibrary.org/obo/MONDO_0007852 palmoplantar keratoderma-deafness syndrome 'palmoplantar keratoderma-deafness syndrome' SubClassOf 'syndromic genetic hearing loss' 'palmoplantar keratoderma-deafness syndrome' SubClassOf 'diffuse palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0007866 Bart-Pumphrey syndrome 'Bart-Pumphrey syndrome' SubClassOf 'syndromic genetic hearing loss' 'Bart-Pumphrey syndrome' SubClassOf 'diffuse palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0007864 angioosteohypertrophic syndrome 'angioosteohypertrophic syndrome' SubClassOf 'skin vascular disease' 'angioosteohypertrophic syndrome' SubClassOf 'overgrowth syndrome' 'angioosteohypertrophic syndrome' SubClassOf 'genetic skin disease' 'angioosteohypertrophic syndrome' SubClassOf 'congenital vascular bone syndrome' 'angioosteohypertrophic syndrome' SubClassOf 'syndromic disease' 'angioosteohypertrophic syndrome' SubClassOf 'genetic vascular anomaly' http://purl.obolibrary.org/obo/MONDO_0007862 Waardenburg syndrome type 3 'Waardenburg syndrome type 3' SubClassOf 'Waardenburg syndrome' http://purl.obolibrary.org/obo/MONDO_0007860 focal palmoplantar and gingival keratoderma 'focal palmoplantar and gingival keratoderma' SubClassOf 'focal palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0007861 isolated cloverleaf skull syndrome 'isolated cloverleaf skull syndrome' SubClassOf 'isolated craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0019840 acropectororenal dysplasia 'acropectororenal dysplasia' SubClassOf 'syndromic breast hypoplasia/aplasia' 'acropectororenal dysplasia' SubClassOf 'syndromic renal or urinary tract malformation' http://purl.obolibrary.org/obo/MONDO_0007879 larynx atresia 'larynx atresia' SubClassOf 'larynx anomaly' 'larynx atresia' SubClassOf 'genetic otorhinolaryngological malformation' http://purl.obolibrary.org/obo/MONDO_0007878 congenital laryngomalacia 'congenital laryngomalacia' SubClassOf 'genetic otorhinolaryngological malformation' 'congenital laryngomalacia' SubClassOf 'larynx anomaly' http://purl.obolibrary.org/obo/MONDO_0007875 Larsen syndrome 'Larsen syndrome' SubClassOf 'filamin-related bone disorder' 'Larsen syndrome' SubClassOf 'developmental defect during embryogenesis' 'Larsen syndrome' SubClassOf 'orofacial clefting syndrome' 'Larsen syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'Larsen syndrome' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0007874 trichorhinophalangeal syndrome type II 'trichorhinophalangeal syndrome type II' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'trichorhinophalangeal syndrome type II' SubClassOf 'partial deletion of the long arm of chromosome 8' 'trichorhinophalangeal syndrome type II' DisjointWith 'trichorhinophalangeal syndrome type I or III' '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 'trichorhinophalangeal syndrome' 'trichorhinophalangeal syndrome type II' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007872 LADD syndrome 'LADD syndrome' SubClassOf 'autosomal dominant disease' 'LADD syndrome' SubClassOf 'EEC syndrome and related syndrome' 'LADD syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'LADD syndrome' SubClassOf 'genetic otorhinolaryngological malformation' 'LADD syndrome' SubClassOf 'nose and cavum anomaly' http://purl.obolibrary.org/obo/MONDO_0019855 athyreosis 'athyreosis' SubClassOf 'primary congenital hypothyroidism' 'athyreosis' SubClassOf 'generalized resistance to thyroid hormone' http://purl.obolibrary.org/obo/MONDO_0019854 thyroid ectopia 'thyroid ectopia' SubClassOf 'generalized resistance to thyroid hormone' 'thyroid ectopia' SubClassOf 'primary congenital hypothyroidism' http://purl.obolibrary.org/obo/MONDO_0019852 inherited primary ovarian failure 'inherited primary ovarian failure' SubClassOf 'genetic endocrine growth disease' 'inherited primary ovarian failure' EquivalentTo 'primary ovarian insufficiency' and ('has modifier' some 'inherited') 'inherited primary ovarian failure' SubClassOf 'primary ovarian insufficiency' 'inherited primary ovarian failure' SubClassOf 'anomaly of puberty or/and menstrual cycle of genetic origin' http://purl.obolibrary.org/obo/MONDO_0007888 hereditary leiomyomatosis and renal cell cancer 'hereditary leiomyomatosis and renal cell cancer' SubClassOf 'inherited soft tissue tumor' 'hereditary leiomyomatosis and renal cell cancer' SubClassOf 'leiomyomatosis' 'hereditary leiomyomatosis and renal cell cancer' SubClassOf 'inherited skin tumor' 'hereditary leiomyomatosis and renal cell cancer' SubClassOf 'renal leiomyoma' 'hereditary leiomyomatosis and renal cell cancer' SubClassOf 'inherited renal cancer-predisposing syndrome' 'hereditary leiomyomatosis and renal cell cancer' SubClassOf 'leiomyoma cutis' http://purl.obolibrary.org/obo/MONDO_0007885 Legg-Calve-Perthes disease 'Legg-Calve-Perthes disease' SubClassOf 'disease has feature' some 'osteonecrosis' 'Legg-Calve-Perthes disease' SubClassOf 'osteonecrosis' http://purl.obolibrary.org/obo/MONDO_0007880 congenital laryngeal web 'congenital laryngeal web' SubClassOf 'larynx anomaly' 'congenital laryngeal web' SubClassOf 'syndromic disease' 'congenital laryngeal web' SubClassOf 'genetic otorhinolaryngological malformation' 'congenital laryngeal web' SubClassOf 'has modifier' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0019869 mosaic trisomy 22 'mosaic trisomy 22' SubClassOf 'trisomy 22' 'mosaic trisomy 22' SubClassOf 'total autosomal trisomy' 'mosaic trisomy 22' SubClassOf 'has modifier' some 'mosaic' http://purl.obolibrary.org/obo/MONDO_0019866 mosaic trisomy 5 'mosaic trisomy 5' SubClassOf 'trisomy' 'mosaic trisomy 5' SubClassOf 'has modifier' some 'mosaic' 'mosaic trisomy 5' SubClassOf 'total autosomal trisomy' 'mosaic trisomy 5' SubClassOf 'chromosome 5 disorder' http://purl.obolibrary.org/obo/MONDO_0019865 mosaic trisomy 4 'mosaic trisomy 4' SubClassOf 'trisomy' 'mosaic trisomy 4' SubClassOf 'has modifier' some 'mosaic' 'mosaic trisomy 4' SubClassOf 'chromosome 4 disorder' 'mosaic trisomy 4' SubClassOf 'total autosomal trisomy' http://purl.obolibrary.org/obo/MONDO_0019868 mosaic trisomy 10 'mosaic trisomy 10' SubClassOf 'has modifier' some 'mosaic' 'mosaic trisomy 10' SubClassOf 'total autosomal trisomy' 'mosaic trisomy 10' SubClassOf 'chromosome 10 disorder' 'mosaic trisomy 10' SubClassOf 'trisomy' http://purl.obolibrary.org/obo/MONDO_0019867 mosaic trisomy 8 'mosaic trisomy 8' SubClassOf 'total autosomal trisomy' 'mosaic trisomy 8' SubClassOf 'has modifier' some 'mosaic' 'mosaic trisomy 8' SubClassOf 'chromosome 8, trisomy' http://purl.obolibrary.org/obo/MONDO_0019861 thyroid hypoplasia 'thyroid hypoplasia' SubClassOf 'generalized resistance to thyroid hormone' 'thyroid hypoplasia' SubClassOf 'primary congenital hypothyroidism' http://purl.obolibrary.org/obo/MONDO_0019864 tetrasomy 21 'tetrasomy 21' SubClassOf 'chromosome 21 disorder' 'tetrasomy 21' SubClassOf 'tetrasomy' 'tetrasomy 21' SubClassOf 'partial autosomal trisomy/tetrasomy' http://purl.obolibrary.org/obo/MONDO_0019860 thyroid hemiagenesis 'thyroid hemiagenesis' SubClassOf 'generalized resistance to thyroid hormone' 'thyroid hemiagenesis' SubClassOf 'primary congenital hypothyroidism' http://purl.obolibrary.org/obo/MONDO_0007895 platyspondylic dysplasia, Torrance type 'platyspondylic dysplasia, Torrance type' SubClassOf 'spondylodysplastic dysplasia' 'platyspondylic dysplasia, Torrance type' SubClassOf 'hereditary disorder of connective tissue' 'platyspondylic dysplasia, Torrance type' SubClassOf 'type 2 collagenopathy' http://purl.obolibrary.org/obo/MONDO_0007893 Noonan syndrome with multiple lentigines 'Noonan syndrome with multiple lentigines' SubClassOf 'syndromic genetic hearing loss' 'Noonan syndrome with multiple lentigines' SubClassOf 'disease has feature' some 'hyperpigmentation of the skin' 'Noonan syndrome with multiple lentigines' SubClassOf 'Noonan syndrome and Noonan-related syndrome' 'Noonan syndrome with multiple lentigines' SubClassOf 'disease has feature' some 'palpebral lentiginosis' 'Noonan syndrome with multiple lentigines' SubClassOf 'autosomal dominant disease' 'Noonan syndrome with multiple lentigines' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Noonan syndrome with multiple lentigines' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0007894 Leri pleonosteosis 'Leri pleonosteosis' SubClassOf 'congenital limb malformation' http://purl.obolibrary.org/obo/MONDO_0007891 familial generalized lentiginosis 'familial generalized lentiginosis' SubClassOf 'hyperpigmentation of the skin' 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 'genetic nervous system disorder' 'Lenz-Majewski hyperostotic dwarfism' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Lenz-Majewski hyperostotic dwarfism' SubClassOf 'syndromic intellectual disability' 'Lenz-Majewski hyperostotic dwarfism' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0017218 septopreoptic holoprosencephaly 'septopreoptic holoprosencephaly' SubClassOf 'holoprosencephaly' http://purl.obolibrary.org/obo/MONDO_0017219 microform holoprosencephaly 'microform holoprosencephaly' SubClassOf 'midline cerebral malformation' http://purl.obolibrary.org/obo/MONDO_0017214 vitamin B12-responsive methylmalonic acidemia 'vitamin B12-responsive methylmalonic acidemia' SubClassOf 'inborn disorder of cobalamin metabolism and transport' 'vitamin B12-responsive methylmalonic acidemia' SubClassOf 'methylmalonic acidemia' 'vitamin B12-responsive methylmalonic acidemia' SubClassOf 'classic organic aciduria' 'vitamin B12-responsive methylmalonic acidemia' SubClassOf 'nephropathy secondary to a storage or other metabolic disease' http://purl.obolibrary.org/obo/MONDO_0019877 distal trisomy 2q 'distal trisomy 2q' SubClassOf 'partial duplication of the long arm of chromosome 2' http://purl.obolibrary.org/obo/MONDO_0019876 8p inverted duplication/deletion syndrome '8p inverted duplication/deletion syndrome' SubClassOf 'chromosome 8 disorder' http://purl.obolibrary.org/obo/MONDO_0019879 distal trisomy 4q 'distal trisomy 4q' SubClassOf 'partial duplication of the long arm of chromosome 4' http://purl.obolibrary.org/obo/MONDO_0019878 3q26 microduplication syndrome '3q26 microduplication syndrome' SubClassOf 'partial duplication of the long arm of chromosome 3' http://purl.obolibrary.org/obo/MONDO_0019873 4p16.3 microduplication syndrome '4p16.3 microduplication syndrome' SubClassOf 'partial duplication of the short arm of chromosome 4' '4p16.3 microduplication syndrome' SubClassOf 'overgrowth syndrome' http://purl.obolibrary.org/obo/MONDO_0019872 distal trisomy 3p 'distal trisomy 3p' SubClassOf 'partial duplication of the short arm of chromosome 3' http://purl.obolibrary.org/obo/MONDO_0019875 Beckwith-Wiedemann syndrome due to 11p15 microduplication 'Beckwith-Wiedemann syndrome due to 11p15 microduplication' SubClassOf 'partial duplication of the short arm of chromosome 11' 'Beckwith-Wiedemann syndrome due to 11p15 microduplication' SubClassOf 'Beckwith-Wiedemann syndrome' http://purl.obolibrary.org/obo/MONDO_0019874 distal trisomy 7p 'distal trisomy 7p' SubClassOf 'partial duplication of the short arm of chromosome 7' http://purl.obolibrary.org/obo/MONDO_0044807 inherited dystonia 'inherited dystonia' EquivalentTo 'dystonic disorder' and ('has modifier' some 'inherited') 'inherited dystonia' SubClassOf 'genetic nervous system disorder' 'inherited dystonia' SubClassOf 'dystonic disorder' http://purl.obolibrary.org/obo/MONDO_0019871 distal trisomy 2p 'distal trisomy 2p' SubClassOf 'partial duplication of the short arm of chromosome 2' http://purl.obolibrary.org/obo/MONDO_0019870 distal trisomy 1p36 'distal trisomy 1p36' SubClassOf 'partial duplication of the short arm of chromosome 1' http://purl.obolibrary.org/obo/MONDO_0017229 distal monosomy 12p 'distal monosomy 12p' SubClassOf 'chromosome 12p deletion' http://purl.obolibrary.org/obo/MONDO_0017225 null syndrome 'null syndrome' SubClassOf 'Pelizaeus-Merzbacher disease' http://purl.obolibrary.org/obo/MONDO_0019888 distal trisomy 20q 'distal trisomy 20q' SubClassOf 'partial trisomy of the long arm of chromosome 20' http://purl.obolibrary.org/obo/MONDO_0017226 Pelizaeus-Merzbacher-like disease 'Pelizaeus-Merzbacher-like disease' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0019887 distal trisomy 16q 'distal trisomy 16q' SubClassOf 'partial trisomy of the long arm of chromosome 16' http://purl.obolibrary.org/obo/MONDO_0019889 distal trisomy 22q 'distal trisomy 22q' SubClassOf 'partial duplication of the long arm of chromosome 22' http://purl.obolibrary.org/obo/MONDO_0017221 Pelizaeus-Merzbacher disease, connatal form 'Pelizaeus-Merzbacher disease, connatal form' SubClassOf 'Pelizaeus-Merzbacher disease' http://purl.obolibrary.org/obo/MONDO_0019884 distal trisomy 10q 'distal trisomy 10q' SubClassOf 'partial duplication of the long arm of chromosome 10' http://purl.obolibrary.org/obo/MONDO_0017222 Pelizaeus-Merzbacher disease, classic form 'Pelizaeus-Merzbacher disease, classic form' SubClassOf 'Pelizaeus-Merzbacher disease' http://purl.obolibrary.org/obo/MONDO_0019883 distal trisomy 9q 'distal trisomy 9q' SubClassOf 'partial trisomy of the long arm of chromosome 9' http://purl.obolibrary.org/obo/MONDO_0017223 Pelizaeus-Merzbacher disease, transitional form 'Pelizaeus-Merzbacher disease, transitional form' SubClassOf 'Pelizaeus-Merzbacher disease' http://purl.obolibrary.org/obo/MONDO_0019886 distal trisomy 13q 'distal trisomy 13q' SubClassOf 'chromosome 13q trisomy' http://purl.obolibrary.org/obo/MONDO_0017224 Pelizaeus-Merzbacher disease in female carriers 'Pelizaeus-Merzbacher disease in female carriers' SubClassOf 'Pelizaeus-Merzbacher disease' http://purl.obolibrary.org/obo/MONDO_0019885 distal trisomy 11q 'distal trisomy 11q' SubClassOf 'chromosome 11q trisomy' http://purl.obolibrary.org/obo/MONDO_0019880 distal trisomy 5q 'distal trisomy 5q' SubClassOf 'partial trisomy of the long arm of chromosome 5' http://purl.obolibrary.org/obo/MONDO_0019882 distal trisomy 8q 'distal trisomy 8q' SubClassOf 'partial duplication of the long arm of chromosome 8' http://purl.obolibrary.org/obo/MONDO_0019881 distal trisomy 6q 'distal trisomy 6q' SubClassOf 'partial duplication of the long arm of chromosome 6' http://purl.obolibrary.org/obo/MONDO_0017236 rapidly progressive glomerulonephritis 'rapidly progressive glomerulonephritis' SubClassOf 'glomerulonephritis' 'rapidly progressive glomerulonephritis' SubClassOf 'primary glomerular disease' http://purl.obolibrary.org/obo/MONDO_0019899 distal monosomy 20q 'distal monosomy 20q' SubClassOf 'partial deletion of the long arm of chromosome 20' http://purl.obolibrary.org/obo/MONDO_0017237 hereditary sensorimotor neuropathy with hyperelastic skin 'hereditary sensorimotor neuropathy with hyperelastic skin' SubClassOf 'autosomal dominant hereditary demyelinating motor and sensory neuropathy' http://purl.obolibrary.org/obo/MONDO_0019898 distal monosomy 14q 'distal monosomy 14q' SubClassOf 'partial deletion of the long arm of chromosome 14' http://purl.obolibrary.org/obo/MONDO_0017238 hemoglobinopathy Toms River 'hemoglobinopathy Toms River' SubClassOf 'cyanosis, transient neonatal' 'hemoglobinopathy Toms River' SubClassOf 'anemia' 'hemoglobinopathy Toms River' SubClassOf 'inherited hemoglobinopathy' http://purl.obolibrary.org/obo/MONDO_0017239 familial progressive hyper- and hypopigmentation 'familial progressive hyper- and hypopigmentation' SubClassOf 'hyperpigmentation with or without hypopigmentation, familial progressive' 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 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0019895 distal monosomy 4q 'distal monosomy 4q' SubClassOf 'partial deletion of the long arm of chromosome 4' http://purl.obolibrary.org/obo/MONDO_0019897 distal monosomy 12q 'distal monosomy 12q' SubClassOf 'partial deletion of the long arm of chromosome 12' http://purl.obolibrary.org/obo/MONDO_0017235 familial omphalocele syndrome with facial dysmorphism 'familial omphalocele syndrome with facial dysmorphism' SubClassOf 'syndromic diaphragmatic or abdominal wall malformation' 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 'partial monosomy of the long arm of chromosome 9' 'Kleefstra syndrome due to 9q34 microdeletion' SubClassOf 'Kleefstra syndrome 1' http://purl.obolibrary.org/obo/MONDO_0019891 monosomy 22 'monosomy 22' SubClassOf 'monosomy' 'monosomy 22' SubClassOf 'chromosome 22 disorder' http://purl.obolibrary.org/obo/MONDO_0019890 non-distal trisomy 9q 'non-distal trisomy 9q' SubClassOf 'partial trisomy of the long arm of chromosome 9' http://purl.obolibrary.org/obo/MONDO_0017230 autosomal semi-dominant severe lipodystrophic laminopathy 'autosomal semi-dominant severe lipodystrophic laminopathy' SubClassOf 'familial partial lipodystrophy' 'autosomal semi-dominant severe lipodystrophic laminopathy' SubClassOf 'diabetes mellitus' http://purl.obolibrary.org/obo/MONDO_0019893 distal monosomy 19p13.3 'distal monosomy 19p13.3' SubClassOf 'partial deletion of the short arm of chromosome 19' http://purl.obolibrary.org/obo/MONDO_0017231 erythropoietic uroporphyria associated with myeloid malignancy 'erythropoietic uroporphyria associated with myeloid malignancy' SubClassOf 'inherited porphyria' http://purl.obolibrary.org/obo/MONDO_0019892 distal monosomy 7p 'distal monosomy 7p' SubClassOf 'partial deletion of the short arm of chromosome 7' http://purl.obolibrary.org/obo/MONDO_0017240 acrodysostosis with multiple hormone resistance 'acrodysostosis with multiple hormone resistance' SubClassOf 'genetic otorhinolaryngologic disease' 'acrodysostosis with multiple hormone resistance' SubClassOf 'mandibulofacial dysostosis' 'acrodysostosis with multiple hormone resistance' SubClassOf 'polyendocrinopathy' 'acrodysostosis with multiple hormone resistance' SubClassOf 'acrofacial dysostosis' http://purl.obolibrary.org/obo/MONDO_0017241 AP4-related intellectual disability and spastic paraplegia 'AP4-related intellectual disability and spastic paraplegia' SubClassOf 'autosomal recessive complex spastic paraplegia' 'AP4-related intellectual disability and spastic paraplegia' EquivalentTo 'hereditary spastic paraplegia 50' or 'hereditary spastic paraplegia 51' or 'hereditary spastic paraplegia 47' or 'hereditary spastic paraplegia 52' 'AP4-related intellectual disability and spastic paraplegia' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0017270 autosomal ichthyosis syndrome 'autosomal ichthyosis syndrome' SubClassOf 'inherited ichthyosis syndromic form' http://purl.obolibrary.org/obo/MONDO_0017269 X-linked ichthyosis syndrome 'X-linked ichthyosis syndrome' SubClassOf 'inherited ichthyosis syndromic form' 'X-linked ichthyosis syndrome' SubClassOf 'X-linked disease' http://purl.obolibrary.org/obo/MONDO_0017265 autosomal recessive congenital ichthyosis 'autosomal recessive congenital ichthyosis' SubClassOf 'has modifier' some 'congenital' 'autosomal recessive congenital ichthyosis' SubClassOf 'inherited non-syndromic ichthyosis' 'autosomal recessive congenital ichthyosis' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0017266 keratinopathic ichthyosis 'keratinopathic ichthyosis' SubClassOf 'inherited non-syndromic ichthyosis' http://purl.obolibrary.org/obo/MONDO_0017267 self-healing collodion baby 'self-healing collodion baby' SubClassOf 'autosomal recessive congenital ichthyosis' http://purl.obolibrary.org/obo/MONDO_0017268 acral self-healing collodion baby 'acral self-healing collodion baby' SubClassOf 'autosomal recessive congenital ichthyosis' http://purl.obolibrary.org/obo/MONDO_0017262 inherited non-syndromic ichthyosis 'inherited non-syndromic ichthyosis' EquivalentTo 'inherited ichthyosis' and ('has modifier' some 'has an isolated presentation') 'inherited non-syndromic ichthyosis' SubClassOf 'has modifier' some 'has an isolated presentation' 'inherited non-syndromic ichthyosis' SubClassOf 'inherited ichthyosis' http://purl.obolibrary.org/obo/MONDO_0017263 inherited ichthyosis syndromic form 'inherited ichthyosis syndromic form' EquivalentTo 'inherited ichthyosis' and ('has modifier' some 'has a syndromic presentation') 'inherited ichthyosis syndromic form' SubClassOf 'inherited ichthyosis' 'inherited ichthyosis syndromic form' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0017264 syndromic recessive X-linked ichthyosis 'syndromic recessive X-linked ichthyosis' SubClassOf 'X-linked ichthyosis syndrome' 'syndromic recessive X-linked ichthyosis' SubClassOf 'syndromic corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0017276 frontotemporal dementia 'frontotemporal dementia' SubClassOf 'inherited neurodegenerative disorder' 'frontotemporal dementia' SubClassOf 'genetic dementia' http://purl.obolibrary.org/obo/MONDO_0017277 partial deletion of chromosome 12 'partial deletion of chromosome 12' SubClassOf 'syndrome caused by partial chromosomal deletion' 'partial deletion of chromosome 12' SubClassOf 'chromosome 12 disorder' http://purl.obolibrary.org/obo/MONDO_0017279 young-onset Parkinson disease 'young-onset Parkinson disease' SubClassOf 'Parkinson disease' 'young-onset Parkinson disease' SubClassOf 'primary orthostatic hypotension' http://purl.obolibrary.org/obo/MONDO_0017275 spastic paraplegia-facial-cutaneous lesions syndrome 'spastic paraplegia-facial-cutaneous lesions syndrome' SubClassOf 'autosomal dominant complex spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0017290 familial intrahepatic cholestasis 'familial intrahepatic cholestasis' SubClassOf 'intrahepatic cholestasis' 'familial intrahepatic cholestasis' EquivalentTo 'intrahepatic cholestasis' and ('has modifier' some 'inherited') 'familial intrahepatic cholestasis' SubClassOf 'inborn errors of metabolism' 'familial intrahepatic cholestasis' SubClassOf 'genetic biliary tract disease' http://purl.obolibrary.org/obo/MONDO_0017283 facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion 'facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion' SubClassOf 'facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation' 'facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion' SubClassOf 'partial deletion of the short arm of chromosome 10' http://purl.obolibrary.org/obo/MONDO_0017284 Xp22.13p22.2 duplication syndrome 'Xp22.13p22.2 duplication syndrome' SubClassOf 'partial duplication of the short arm of chromosome X' 'Xp22.13p22.2 duplication syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Xp22.13p22.2 duplication syndrome' SubClassOf 'congenital nervous system disorder' 'Xp22.13p22.2 duplication syndrome' SubClassOf 'syndromic intellectual disability' 'Xp22.13p22.2 duplication syndrome' SubClassOf 'genetic nervous system disorder' 'Xp22.13p22.2 duplication syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0017294 glycerol kinase deficiency, infantile form 'glycerol kinase deficiency, infantile form' SubClassOf 'inborn glycerol kinase deficiency' http://purl.obolibrary.org/obo/MONDO_0017295 glycerol kinase deficiency, juvenile form 'glycerol kinase deficiency, juvenile form' SubClassOf 'isolated glycerol kinase deficiency' http://purl.obolibrary.org/obo/MONDO_0017296 glycerol kinase deficiency, adult form 'glycerol kinase deficiency, adult form' SubClassOf 'isolated glycerol kinase deficiency' http://purl.obolibrary.org/obo/MONDO_0007904 median nodule of the upper lip 'median nodule of the upper lip' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007909 familial multiple lipomatosis 'familial multiple lipomatosis' SubClassOf 'integumentary system benign neoplasm' 'familial multiple lipomatosis' SubClassOf 'subcutaneous tissue disorder' 'familial multiple lipomatosis' SubClassOf 'lipoma' 'familial multiple lipomatosis' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0007906 familial partial lipodystrophy, Dunnigan type 'familial partial lipodystrophy, Dunnigan type' SubClassOf 'familial partial lipodystrophy' 'familial partial lipodystrophy, Dunnigan type' SubClassOf 'developmental anomaly of metabolic origin' 'familial partial lipodystrophy, Dunnigan type' SubClassOf 'progeroid syndrome' http://purl.obolibrary.org/obo/MONDO_0007705 Heinz body anemia 'Heinz body anemia' SubClassOf 'normocytic anemia' http://purl.obolibrary.org/obo/MONDO_0007706 cavernous hemangiomas of face-supraumbilical midline raphe syndrome 'cavernous hemangiomas of face-supraumbilical midline raphe syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007702 heart-hand syndrome type 3 'heart-hand syndrome type 3' SubClassOf 'Holt-Oram syndrome' http://purl.obolibrary.org/obo/MONDO_0007700 hawkinsinuria 'hawkinsinuria' SubClassOf 'disorder of tyrosine metabolism' 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' 'alpha thalassemia-intellectual disability syndrome type 1' SubClassOf 'alpha-thalassemia-related diseases' 'alpha thalassemia-intellectual disability syndrome type 1' SubClassOf 'inherited hemoglobinopathy' 'alpha thalassemia-intellectual disability syndrome type 1' SubClassOf 'partial deletion of the short arm of chromosome 16' 'alpha thalassemia-intellectual disability syndrome type 1' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0007712 oculoauriculovertebral spectrum with radial defects 'oculoauriculovertebral spectrum with radial defects' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'oculoauriculovertebral spectrum with radial defects' SubClassOf 'dysostosis of genetic origin' 'oculoauriculovertebral spectrum with radial defects' SubClassOf 'branchial arch or oral-acral syndrome' http://purl.obolibrary.org/obo/MONDO_0007711 Bencze syndrome 'Bencze syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'Bencze syndrome' SubClassOf 'orofacial clefting syndrome' 'Bencze syndrome' SubClassOf 'syndromic disease' 'Bencze syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007727 autosomal dominant familial periodic fever 'autosomal dominant familial periodic fever' SubClassOf 'hereditary periodic fever syndrome' 'autosomal dominant familial periodic fever' SubClassOf 'primary immunodeficiency due to a genetic defect in innate immunity' http://purl.obolibrary.org/obo/MONDO_0007726 hip dysplasia, Beukes type 'hip dysplasia, Beukes type' SubClassOf 'multiple epiphyseal dysplasia and pseudoachondroplasia' 'hip dysplasia, Beukes type' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007724 hirsutism-skeletal dysplasia-intellectual disability syndrome 'hirsutism-skeletal dysplasia-intellectual disability syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '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_0019707 primary osteolysis 'primary osteolysis' SubClassOf 'primary bone dysplasia' http://purl.obolibrary.org/obo/MONDO_0019701 chondrodysplasia punctata 'chondrodysplasia punctata' SubClassOf 'primary bone dysplasia' http://purl.obolibrary.org/obo/MONDO_0019702 neonatal osteosclerotic dysplasia 'neonatal osteosclerotic dysplasia' SubClassOf 'primary bone dysplasia' 'neonatal osteosclerotic dysplasia' SubClassOf 'osteochondrodysplasia' http://purl.obolibrary.org/obo/MONDO_0007738 spondyloepiphyseal dysplasia with congenital joint dislocations 'spondyloepiphyseal dysplasia with congenital joint dislocations' SubClassOf 'disorder of O-xylosylglycan synthesis' 'spondyloepiphyseal dysplasia with congenital joint dislocations' SubClassOf 'congenital disorder of glycosylation-related bone disorder' 'spondyloepiphyseal dysplasia with congenital joint dislocations' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0007739 Huntington disease 'Huntington disease' SubClassOf 'disease has feature' some 'dementia' 'Huntington disease' SubClassOf 'movement disorder' 'Huntington disease' SubClassOf 'Huntington disease and related disorders' http://purl.obolibrary.org/obo/MONDO_0007737 humeroradial synostosis 'humeroradial synostosis' SubClassOf 'joint formation defects' http://purl.obolibrary.org/obo/MONDO_0007735 congenital Horner syndrome 'congenital Horner syndrome' SubClassOf 'eyelids malposition disorder' http://purl.obolibrary.org/obo/MONDO_0007732 Holt-Oram syndrome 'Holt-Oram syndrome' SubClassOf 'heart-hand syndrome' 'Holt-Oram syndrome' SubClassOf 'autosomal dominant disease' 'Holt-Oram syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Holt-Oram syndrome' SubClassOf 'genetic cardiac rhythm disease' 'Holt-Oram syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0019719 congenital anomaly of kidney and urinary tract 'congenital anomaly of kidney and urinary tract' SubClassOf 'genetic disorder' 'congenital anomaly of kidney and urinary tract' SubClassOf 'developmental defect during embryogenesis' 'congenital anomaly of kidney and urinary tract' SubClassOf 'has modifier' some 'rare' 'congenital anomaly of kidney and urinary tract' SubClassOf 'kidney disease' http://purl.obolibrary.org/obo/MONDO_0019716 overgrowth syndrome 'overgrowth syndrome' SubClassOf 'overgrowth/obesity syndrome' 'overgrowth syndrome' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0019718 lethal chondrodysplasia 'lethal chondrodysplasia' SubClassOf 'primary bone dysplasia' http://purl.obolibrary.org/obo/MONDO_0019712 patellar dysostosis 'patellar dysostosis' SubClassOf 'dysostosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0019714 non-syndromic polydactyly, syndactyly and/or hyperphalangy 'non-syndromic polydactyly, syndactyly and/or hyperphalangy' SubClassOf 'dysostosis of genetic origin' 'non-syndromic polydactyly, syndactyly and/or hyperphalangy' SubClassOf 'non-syndromic limb malformation' http://purl.obolibrary.org/obo/MONDO_0019713 non-syndromic limb reduction defect 'non-syndromic limb reduction defect' SubClassOf 'dysostosis of genetic origin' 'non-syndromic limb reduction defect' SubClassOf 'non-syndromic limb malformation' http://purl.obolibrary.org/obo/MONDO_0007744 cholesterol-ester transfer protein deficiency 'cholesterol-ester transfer protein deficiency' SubClassOf 'familial hyperlipidemia' 'cholesterol-ester transfer protein deficiency' SubClassOf 'hyperalphalipoproteinemia' http://purl.obolibrary.org/obo/MONDO_0007741 congenital hydronephrosis 'congenital hydronephrosis' SubClassOf 'hydronephrosis' 'congenital hydronephrosis' SubClassOf 'has modifier' some 'congenital' 'congenital hydronephrosis' SubClassOf 'non-syndromic renal or urinary tract malformation' http://purl.obolibrary.org/obo/MONDO_0007740 Wagner disease 'Wagner disease' SubClassOf 'syndromic myopia' 'Wagner disease' SubClassOf 'vitreoretinal degeneration' http://purl.obolibrary.org/obo/MONDO_0019723 disease of glomerular basement membrane 'disease of glomerular basement membrane' SubClassOf 'glomerular disease' http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation 'syndromic renal or urinary tract malformation' SubClassOf 'kidney disease' 'syndromic renal or urinary tract malformation' SubClassOf 'urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation 'non-syndromic renal or urinary tract malformation' SubClassOf 'kidney disease' 'non-syndromic renal or urinary tract malformation' SubClassOf 'urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0007758 epidermolytic palmoplantar keratoderma 'epidermolytic palmoplantar keratoderma' SubClassOf 'autosomal dominant isolated diffuse palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0007756 hyperkeratosis lenticularis perstans 'hyperkeratosis lenticularis perstans' SubClassOf 'epidermal disease' http://purl.obolibrary.org/obo/MONDO_0007757 hyperkeratosis-hyperpigmentation syndrome 'hyperkeratosis-hyperpigmentation syndrome' SubClassOf 'hyperpigmentation of the skin' 'hyperkeratosis-hyperpigmentation syndrome' SubClassOf 'autosomal dominant disease' 'hyperkeratosis-hyperpigmentation syndrome' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0019738 atypical hemolytic-uremic syndrome with H factor anomaly 'atypical hemolytic-uremic syndrome with H factor anomaly' SubClassOf 'hemolytic uremic syndrome, atypical, susceptibility to, 1' 'atypical hemolytic-uremic syndrome with H factor anomaly' SubClassOf 'atypical hemolytic-uremic syndrome' http://purl.obolibrary.org/obo/MONDO_0019737 thrombotic microangiopathy 'thrombotic microangiopathy' SubClassOf 'blood coagulation disease' 'thrombotic microangiopathy' SubClassOf 'kidney disease' http://purl.obolibrary.org/obo/MONDO_0019739 atypical hemolytic-uremic syndrome with anti-factor H antibodies 'atypical hemolytic-uremic syndrome with anti-factor H antibodies' SubClassOf 'hemolytic uremic syndrome, atypical, susceptibility to, 1' 'atypical hemolytic-uremic syndrome with anti-factor H antibodies' SubClassOf 'atypical hemolytic-uremic syndrome' http://purl.obolibrary.org/obo/MONDO_0019733 AFib amyloidosis 'AFib amyloidosis' SubClassOf 'familial visceral amyloidosis' http://purl.obolibrary.org/obo/MONDO_0019736 dense deposit disease 'dense deposit disease' SubClassOf 'non-immunoglobulin-mediated membranoproliferative glomerulonephritis' http://purl.obolibrary.org/obo/MONDO_0019732 ALys amyloidosis 'ALys amyloidosis' SubClassOf 'familial visceral amyloidosis' http://purl.obolibrary.org/obo/MONDO_0019731 AApoAI amyloidosis 'AApoAI amyloidosis' SubClassOf 'familial visceral amyloidosis' http://purl.obolibrary.org/obo/MONDO_0007768 hyperparathyroidism 2 with jaw tumors 'hyperparathyroidism 2 with jaw tumors' SubClassOf 'inherited renal cancer-predisposing syndrome' 'hyperparathyroidism 2 with jaw tumors' SubClassOf 'familial primary hyperparathyroidism' 'hyperparathyroidism 2 with jaw tumors' SubClassOf 'kidney neoplasm' http://purl.obolibrary.org/obo/MONDO_0007765 hyperostosis cranialis interna 'hyperostosis cranialis interna' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0007766 Morgagni-Stewart-Morel syndrome 'Morgagni-Stewart-Morel syndrome' SubClassOf 'cranial malformation' 'Morgagni-Stewart-Morel syndrome' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0007764 autosomal dominant osteosclerosis, Worth type 'autosomal dominant osteosclerosis, Worth type' SubClassOf 'genetic disorder' 'autosomal dominant osteosclerosis, Worth type' SubClassOf 'bone disease' http://purl.obolibrary.org/obo/MONDO_0007761 hyperlipoproteinemia type IV 'hyperlipoproteinemia type IV' SubClassOf 'familial hyperlipidemia' http://purl.obolibrary.org/obo/MONDO_0007762 hyperlipoproteinemia type V 'hyperlipoproteinemia type V' SubClassOf 'familial hyperlipidemia' 'hyperlipoproteinemia type V' SubClassOf 'major hypertriglyceridemia' http://purl.obolibrary.org/obo/MONDO_0020726 tubulointerstitial kidney disease, autosomal dominant, 2 'tubulointerstitial kidney disease, autosomal dominant, 2' SubClassOf 'autosomal dominant medullary cystic kidney disease with or without hyperuricemia' 'tubulointerstitial kidney disease, autosomal dominant, 2' SubClassOf 'familial juvenile hyperuricemic nephropathy' http://purl.obolibrary.org/obo/MONDO_0044718 alkaline ceramidase 3 deficiency 'alkaline ceramidase 3 deficiency' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0019745 cystinuria type A 'cystinuria type A' SubClassOf 'cystinuria' http://purl.obolibrary.org/obo/MONDO_0020722 nephrolithiasis susceptibility caused by SLC26A1 'nephrolithiasis susceptibility caused by SLC26A1' SubClassOf 'predisposes towards' some 'nephrolithiasis' 'nephrolithiasis susceptibility caused by SLC26A1' SubClassOf 'inherited disease susceptibility' http://purl.obolibrary.org/obo/MONDO_0020721 X-linked sideroblastic anemia 1 'X-linked sideroblastic anemia 1' SubClassOf 'X-linked disease' 'X-linked sideroblastic anemia 1' SubClassOf 'inborn disorder of porphyrin metabolism' 'X-linked sideroblastic anemia 1' SubClassOf 'inherited sideroblastic anemia' http://purl.obolibrary.org/obo/MONDO_0019746 cystinuria type B 'cystinuria type B' SubClassOf 'cystinuria' http://purl.obolibrary.org/obo/MONDO_0019741 familial cystic renal disease 'familial cystic renal disease' SubClassOf 'genetic disorder' 'familial cystic renal disease' SubClassOf 'has modifier' some 'rare' 'familial cystic renal disease' SubClassOf 'Cystic Kidney Disease' 'familial cystic renal disease' EquivalentTo 'Cystic Kidney Disease' and ('has modifier' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0019743 nephropathy secondary to a storage or other metabolic disease 'nephropathy secondary to a storage or other metabolic disease' SubClassOf 'kidney disease' 'nephropathy secondary to a storage or other metabolic disease' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0019742 late-onset nephronophthisis 'late-onset nephronophthisis' SubClassOf 'nephronophthisis' http://purl.obolibrary.org/obo/MONDO_0007779 autosomal dominant Opitz G/BBB syndrome 'autosomal dominant Opitz G/BBB syndrome' SubClassOf 'Opitz G/BBB syndrome' 'autosomal dominant Opitz G/BBB syndrome' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0007772 pseudohypoaldosteronism type 2A 'pseudohypoaldosteronism type 2A' SubClassOf 'pseudohypoaldosteronism type 2' http://purl.obolibrary.org/obo/MONDO_0019759 epispadias 'epispadias' SubClassOf 'exstrophy-epispadias complex' http://purl.obolibrary.org/obo/MONDO_0019756 lobar holoprosencephaly 'lobar holoprosencephaly' SubClassOf 'holoprosencephaly' http://purl.obolibrary.org/obo/MONDO_0019758 midline interhemispheric variant of holoprosencephaly 'midline interhemispheric variant of holoprosencephaly' SubClassOf 'holoprosencephaly' http://purl.obolibrary.org/obo/MONDO_0019757 alobar holoprosencephaly 'alobar holoprosencephaly' SubClassOf 'holoprosencephaly' http://purl.obolibrary.org/obo/MONDO_0007787 Ambras type hypertrichosis universalis congenita 'Ambras type hypertrichosis universalis congenita' SubClassOf 'hypertrichosis lanuginosa congenita' http://purl.obolibrary.org/obo/MONDO_0007784 selective pituitary resistance to thyroid hormone 'selective pituitary resistance to thyroid hormone' SubClassOf 'resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta' 'selective pituitary resistance to thyroid hormone' SubClassOf 'has modifier' some 'rare' 'selective pituitary resistance to thyroid hormone' SubClassOf 'Hyperthyroidism' http://purl.obolibrary.org/obo/MONDO_0007780 hypertelorism, Teebi type 'hypertelorism, Teebi type' SubClassOf 'frontonasal dysplasia' 'hypertelorism, Teebi type' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019767 hamel cerebro-palato-cardiac syndrome 'hamel cerebro-palato-cardiac syndrome' SubClassOf 'Renpenning syndrome' http://purl.obolibrary.org/obo/MONDO_0019766 X-linked intellectual disability, Porteous type 'X-linked intellectual disability, Porteous type' SubClassOf 'Renpenning syndrome' http://purl.obolibrary.org/obo/MONDO_0019769 X-linked intellectual disability, Sutherland-Haan type 'X-linked intellectual disability, Sutherland-Haan type' SubClassOf 'Renpenning syndrome' http://purl.obolibrary.org/obo/MONDO_0019768 X-linked intellectual disability, Golabi-Ito-hall type 'X-linked intellectual disability, Golabi-Ito-hall type' SubClassOf 'Renpenning syndrome' http://purl.obolibrary.org/obo/MONDO_0017100 neutropenia-monocytopenia-deafness syndrome 'neutropenia-monocytopenia-deafness syndrome' SubClassOf 'syndromic genetic hearing loss' 'neutropenia-monocytopenia-deafness syndrome' SubClassOf 'constitutional neutropenia' 'neutropenia-monocytopenia-deafness syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0017101 isolated focal cortical dysplasia type IIa 'isolated focal cortical dysplasia type IIa' SubClassOf 'isolated focal cortical dysplasia type II' http://purl.obolibrary.org/obo/MONDO_0017102 isolated focal cortical dysplasia type IIb 'isolated focal cortical dysplasia type IIb' SubClassOf 'isolated focal cortical dysplasia type II' http://purl.obolibrary.org/obo/MONDO_0017103 encephaloclastic disorder 'encephaloclastic disorder' SubClassOf 'cerebral malformation' http://purl.obolibrary.org/obo/MONDO_0019760 terminal transverse defects of arm 'terminal transverse defects of arm' SubClassOf 'constriction rings syndrome' http://purl.obolibrary.org/obo/MONDO_0007798 obsolete adult hypophosphatasia 'obsolete adult hypophosphatasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0007797 hypoparathyroidism-deafness-renal disease syndrome 'hypoparathyroidism-deafness-renal disease syndrome' SubClassOf 'partial deletion of the short arm of chromosome 10' 'hypoparathyroidism-deafness-renal disease syndrome' SubClassOf 'syndromic genetic hearing loss' 'hypoparathyroidism-deafness-renal disease syndrome' SubClassOf 'syndromic urogenital tract malformation' 'hypoparathyroidism-deafness-renal disease syndrome' SubClassOf 'syndromic renal or urinary tract malformation' http://purl.obolibrary.org/obo/MONDO_0007795 mullerian duct anomalies-limb anomalies syndrome 'mullerian duct anomalies-limb anomalies syndrome' SubClassOf 'syndromic urogenital tract malformation' 'mullerian duct anomalies-limb anomalies syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'mullerian duct anomalies-limb anomalies syndrome' SubClassOf 'syndromic uterovaginal malformation' http://purl.obolibrary.org/obo/MONDO_0007792 familial hypocalciuric hypercalcemia 2 'familial hypocalciuric hypercalcemia 2' SubClassOf 'familial hypocalciuric hypercalcemia' http://purl.obolibrary.org/obo/MONDO_0007793 hypochondroplasia 'hypochondroplasia' SubClassOf 'genetic disorder' 'hypochondroplasia' SubClassOf 'FGFR3-related chondrodysplasia' 'hypochondroplasia' SubClassOf 'osteochondrodysplasia' http://purl.obolibrary.org/obo/MONDO_0007790 Charcot-Marie-Tooth disease type 3 'Charcot-Marie-Tooth disease type 3' SubClassOf 'Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0007791 familial hypocalciuric hypercalcemia 1 'familial hypocalciuric hypercalcemia 1' SubClassOf 'familial hypocalciuric hypercalcemia' http://purl.obolibrary.org/obo/MONDO_0019778 Smith-Fineman-Myers syndrome 'Smith-Fineman-Myers syndrome' SubClassOf 'X-linked intellectual disability-hypotonic face syndrome' http://purl.obolibrary.org/obo/MONDO_0017116 congenital communicating hydrocephalus 'congenital communicating hydrocephalus' SubClassOf 'congenital hydrocephalus' http://purl.obolibrary.org/obo/MONDO_0019777 Carpenter-Waziri syndrome 'Carpenter-Waziri syndrome' SubClassOf 'X-linked intellectual disability-hypotonic face syndrome' http://purl.obolibrary.org/obo/MONDO_0017117 congenital non-communicating hydrocephalus 'congenital non-communicating hydrocephalus' SubClassOf 'congenital hydrocephalus' http://purl.obolibrary.org/obo/MONDO_0019779 Renier-Gabreels-Jasper syndrome 'Renier-Gabreels-Jasper syndrome' SubClassOf 'X-linked intellectual disability-hypotonic face syndrome' http://purl.obolibrary.org/obo/MONDO_0017111 isolated Dandy-Walker malformation without hydrocephalus 'isolated Dandy-Walker malformation without hydrocephalus' SubClassOf 'Dandy-Walker syndrome' http://purl.obolibrary.org/obo/MONDO_0019774 Holmes-Gang syndrome 'Holmes-Gang syndrome' SubClassOf 'X-linked intellectual disability-hypotonic face syndrome' http://purl.obolibrary.org/obo/MONDO_0019773 myelomeningocele 'myelomeningocele' SubClassOf 'spina bifida cystica' http://purl.obolibrary.org/obo/MONDO_0019776 Juberg-Marsidi syndrome 'Juberg-Marsidi syndrome' SubClassOf 'X-linked intellectual disability-hypotonic face syndrome' 'Juberg-Marsidi syndrome' SubClassOf 'syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0019775 Chudley-Lowry-Hoar syndrome 'Chudley-Lowry-Hoar syndrome' SubClassOf 'X-linked intellectual disability-hypotonic face syndrome' http://purl.obolibrary.org/obo/MONDO_0019770 X-linked dominant intellectual disability-epilepsy syndrome 'X-linked dominant intellectual disability-epilepsy syndrome' SubClassOf 'X-linked intellectual disability-epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0019772 blepharospasm-oromandibular dystonia syndrome 'blepharospasm-oromandibular dystonia syndrome' SubClassOf 'focal, segmental or multifocal dystonia' http://purl.obolibrary.org/obo/MONDO_0017110 isolated Dandy-Walker malformation with hydrocephalus 'isolated Dandy-Walker malformation with hydrocephalus' SubClassOf 'Dandy-Walker syndrome' http://purl.obolibrary.org/obo/MONDO_0019771 oromandibular dystonia 'oromandibular dystonia' SubClassOf 'focal, segmental or multifocal dystonia' 'oromandibular dystonia' SubClassOf 'focal dystonia' http://purl.obolibrary.org/obo/MONDO_0017126 oculo-skeletal-renal syndrome 'oculo-skeletal-renal syndrome' SubClassOf 'syndromic renal or urinary tract malformation' http://purl.obolibrary.org/obo/MONDO_0017127 inherited soft tissue tumor 'inherited soft tissue tumor' SubClassOf 'genetic disorder' 'inherited soft tissue tumor' SubClassOf 'has modifier' some 'rare' 'inherited soft tissue tumor' EquivalentTo 'mesenchymal cell neoplasm' and ('has modifier' some 'inherited') 'inherited soft tissue tumor' SubClassOf 'mesenchymal cell neoplasm' http://purl.obolibrary.org/obo/MONDO_0017128 inherited digestive tract tumor 'inherited digestive tract tumor' SubClassOf 'genetic disorder' 'inherited digestive tract tumor' SubClassOf 'digestive system neoplasm' 'inherited digestive tract tumor' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0017129 inherited cardiac tumor 'inherited cardiac tumor' SubClassOf 'has modifier' some 'rare' 'inherited cardiac tumor' EquivalentTo 'Heart neoplasm' and ('has modifier' some 'inherited') 'inherited cardiac tumor' SubClassOf 'genetic disorder' 'inherited cardiac tumor' SubClassOf 'Heart neoplasm' http://purl.obolibrary.org/obo/MONDO_0017123 arthrogryposis-renal dysfunction-cholestasis syndrome 'arthrogryposis-renal dysfunction-cholestasis syndrome' SubClassOf 'inborn disorder of bilirubin metabolism' 'arthrogryposis-renal dysfunction-cholestasis syndrome' SubClassOf 'syndromic urogenital tract malformation' 'arthrogryposis-renal dysfunction-cholestasis syndrome' SubClassOf 'autosomal ichthyosis syndrome' 'arthrogryposis-renal dysfunction-cholestasis syndrome' SubClassOf 'developmental anomaly of metabolic origin' 'arthrogryposis-renal dysfunction-cholestasis syndrome' SubClassOf 'syndromic renal or urinary tract malformation' 'arthrogryposis-renal dysfunction-cholestasis syndrome' SubClassOf 'arthrogryposis multiplex congenita 2, neurogenic type' http://purl.obolibrary.org/obo/MONDO_0019784 12q14 microdeletion syndrome '12q14 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 12' 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 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '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_0019780 anotia 'anotia' SubClassOf 'developmental defect during embryogenesis' 'anotia' SubClassOf 'genetic otorhinolaryngological malformation' http://purl.obolibrary.org/obo/MONDO_0019782 humero-ulnar synostosis 'humero-ulnar synostosis' SubClassOf 'joint formation defects' http://purl.obolibrary.org/obo/MONDO_0017138 Opitz G/BBB syndrome 'Opitz G/BBB syndrome' SubClassOf 'syndromic respiratory or mediastinal malformation' 'Opitz G/BBB syndrome' SubClassOf 'syndromic urogenital tract malformation' 'Opitz G/BBB syndrome' SubClassOf 'telecanthus' 'Opitz G/BBB syndrome' SubClassOf 'syndromic anorectal malformation' 'Opitz G/BBB syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Opitz G/BBB syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019799 hepatoerythropoietic porphyria 'hepatoerythropoietic porphyria' SubClassOf 'porphyria cutanea tarda' http://purl.obolibrary.org/obo/MONDO_0017139 oromandibular-limb hypogenesis syndrome 'oromandibular-limb hypogenesis syndrome' SubClassOf 'dysostosis of genetic origin' 'oromandibular-limb hypogenesis syndrome' SubClassOf 'oromandibular-limb anomalies syndrome' http://purl.obolibrary.org/obo/MONDO_0019796 acrocephalosyndactyly 'acrocephalosyndactyly' SubClassOf 'congenital limb malformation' 'acrocephalosyndactyly' SubClassOf 'syndromic craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0017134 odonto-onycho dysplasia-alopecia syndrome 'odonto-onycho dysplasia-alopecia syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0017135 olivopontocerebellar atrophy-deafness syndrome 'olivopontocerebellar atrophy-deafness syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0017136 omodysplasia 'omodysplasia' SubClassOf 'mesomelic and rhizo-mesomelic dysplasia' 'omodysplasia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0019797 acrodysostosis 'acrodysostosis' SubClassOf 'acromelic dysplasia' 'acrodysostosis' SubClassOf 'dysostosis of genetic origin' 'acrodysostosis' SubClassOf 'mandibulofacial dysostosis' 'acrodysostosis' SubClassOf 'genetic otorhinolaryngologic disease' http://purl.obolibrary.org/obo/MONDO_0019792 autosomal dominant cerebellar ataxia type I 'autosomal dominant cerebellar ataxia type I' SubClassOf 'autosomal dominant cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0019791 recessive mitochondrial ataxia syndrome 'recessive mitochondrial ataxia syndrome' SubClassOf 'autosomal recessive metabolic cerebellar ataxia' 'recessive mitochondrial ataxia syndrome' SubClassOf 'ataxia neuropathy spectrum' http://purl.obolibrary.org/obo/MONDO_0017131 genetic cardiac anomaly 'genetic cardiac anomaly' SubClassOf 'has modifier' some 'rare' 'genetic cardiac anomaly' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0019794 autosomal dominant cerebellar ataxia type IV 'autosomal dominant cerebellar ataxia type IV' SubClassOf 'autosomal dominant cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0019793 autosomal dominant cerebellar ataxia type III 'autosomal dominant cerebellar ataxia type III' SubClassOf 'autosomal dominant cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0017132 hereditary ATTR amyloidosis 'hereditary ATTR amyloidosis' SubClassOf 'hereditary amyloidosis' http://purl.obolibrary.org/obo/MONDO_0017148 heritable pulmonary arterial hypertension 'heritable pulmonary arterial hypertension' EquivalentTo 'pulmonary arterial hypertension' and ('has modifier' some 'inherited') 'heritable pulmonary arterial hypertension' SubClassOf 'genetic hypertension' 'heritable pulmonary arterial hypertension' SubClassOf 'idiopathic and/or familial pulmonary arterial hypertension' http://purl.obolibrary.org/obo/MONDO_0017144 alpha-thalassemia and related diseases 'alpha-thalassemia and related diseases' SubClassOf 'anemia' 'alpha-thalassemia and related diseases' SubClassOf 'hemoglobinopathy' http://purl.obolibrary.org/obo/MONDO_0017145 beta-thalassemia and related diseases 'beta-thalassemia and related diseases' SubClassOf 'inherited hemoglobinopathy' 'beta-thalassemia and related diseases' SubClassOf 'anemia' http://purl.obolibrary.org/obo/MONDO_0017146 sickle cell disease and related diseases 'sickle cell disease and related diseases' SubClassOf 'anemia' 'sickle cell disease and related diseases' SubClassOf 'inherited hemoglobinopathy' http://purl.obolibrary.org/obo/MONDO_0017147 idiopathic pulmonary arterial hypertension 'idiopathic pulmonary arterial hypertension' SubClassOf 'idiopathic and/or familial pulmonary arterial hypertension' http://purl.obolibrary.org/obo/MONDO_0017140 L1 syndrome 'L1 syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'L1 syndrome' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0017143 genetic infertility 'genetic infertility' SubClassOf 'infertility' 'genetic infertility' SubClassOf 'genetic disorder' 'genetic infertility' EquivalentTo 'infertility' and ('has modifier' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0017160 behavioral variant of frontotemporal dementia 'behavioral variant of frontotemporal dementia' SubClassOf 'movement disorder' 'behavioral variant of frontotemporal dementia' SubClassOf 'disease arises from feature' some 'neurodegenerative disease' 'behavioral variant of frontotemporal dementia' SubClassOf 'frontotemporal dementia' http://purl.obolibrary.org/obo/MONDO_0017161 frontotemporal dementia with motor neuron disease 'frontotemporal dementia with motor neuron disease' SubClassOf 'genetic dementia' 'frontotemporal dementia with motor neuron disease' SubClassOf 'movement disorder' 'frontotemporal dementia with motor neuron disease' SubClassOf 'disease arises from feature' some 'neurodegenerative disease' 'frontotemporal dementia with motor neuron disease' SubClassOf 'inherited neurodegenerative disorder' http://purl.obolibrary.org/obo/MONDO_0017171 mucopolysaccharidosis type 6, rapidly progressing 'mucopolysaccharidosis type 6, rapidly progressing' SubClassOf 'mucopolysaccharidosis type 6' http://purl.obolibrary.org/obo/MONDO_0017172 mucopolysaccharidosis type 6, slowly progressing 'mucopolysaccharidosis type 6, slowly progressing' SubClassOf 'mucopolysaccharidosis type 6' http://purl.obolibrary.org/obo/MONDO_0044792 large congenital melanocytic nevus 'large congenital melanocytic nevus' SubClassOf 'melanocytic nevus' 'large congenital melanocytic nevus' SubClassOf 'inherited skin tumor' 'large congenital melanocytic nevus' SubClassOf 'has modifier' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0017169 multiple endocrine neoplasia 'multiple endocrine neoplasia' SubClassOf 'neoplastic syndrome' 'multiple endocrine neoplasia' SubClassOf 'neurocristopathy' 'multiple endocrine neoplasia' SubClassOf 'genetic disorder' 'multiple endocrine neoplasia' SubClassOf 'multiple polyglandular tumor' http://purl.obolibrary.org/obo/MONDO_0017162 imperforate oropharynx-costo vetebral anomalies syndrome 'imperforate oropharynx-costo vetebral anomalies syndrome' SubClassOf 'dysostosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0017165 bile acid CoA ligase deficiency and defective amidation 'bile acid CoA ligase deficiency and defective amidation' SubClassOf 'inborn disorder of bile acid synthesis' http://purl.obolibrary.org/obo/MONDO_0017180 10q22.3q23.3 microduplication syndrome '10q22.3q23.3 microduplication syndrome' SubClassOf 'partial duplication of the long arm of chromosome 10' http://purl.obolibrary.org/obo/MONDO_0017182 familial hyperinsulinism 'familial hyperinsulinism' SubClassOf 'hyperinsulinemic hypoglycemia' 'familial hyperinsulinism' EquivalentTo 'hyperinsulinism' and ('has modifier' some 'inherited') 'familial hyperinsulinism' SubClassOf 'hyperinsulinism' http://purl.obolibrary.org/obo/MONDO_0017183 hyperinsulinism due to UCP2 deficiency 'hyperinsulinism due to UCP2 deficiency' SubClassOf 'diazoxide-sensitive diffuse hyperinsulinism' http://purl.obolibrary.org/obo/MONDO_0017177 hemihyperplasia-multiple lipomatosis syndrome 'hemihyperplasia-multiple lipomatosis syndrome' SubClassOf 'overgrowth syndrome' http://purl.obolibrary.org/obo/MONDO_0017178 osteochondritis dissecans 'osteochondritis dissecans' SubClassOf 'aggrecan-related bone disorder' 'osteochondritis dissecans' SubClassOf 'osteonecrosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0017173 non-syndromic male infertility due to sperm motility disorder 'non-syndromic male infertility due to sperm motility disorder' EquivalentTo 'male infertility' and ('has modifier' some 'has an isolated presentation') 'non-syndromic male infertility due to sperm motility disorder' SubClassOf 'has modifier' some 'has an isolated presentation' 'non-syndromic male infertility due to sperm motility disorder' SubClassOf 'male infertility' http://purl.obolibrary.org/obo/MONDO_0017174 Machado-Joseph disease type 1 'Machado-Joseph disease type 1' SubClassOf 'Machado-Joseph disease' http://purl.obolibrary.org/obo/MONDO_0017175 Machado-Joseph disease type 2 'Machado-Joseph disease type 2' SubClassOf 'Machado-Joseph disease' http://purl.obolibrary.org/obo/MONDO_0017176 Machado-Joseph disease type 3 'Machado-Joseph disease type 3' SubClassOf 'Machado-Joseph disease' http://purl.obolibrary.org/obo/MONDO_0017193 symptomatic form of Coffin-Lowry syndrome in female carriers 'symptomatic form of Coffin-Lowry syndrome in female carriers' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0017194 Blount disease 'Blount disease' SubClassOf 'bent bone dysplasia' 'Blount disease' SubClassOf 'osteochondrodysplasia' http://purl.obolibrary.org/obo/MONDO_0017188 diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency 'diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency' SubClassOf 'hyperinsulinemic hypoglycemia, familial, 2' 'diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency' SubClassOf 'diazoxide-resistant focal hyperinsulinism' http://purl.obolibrary.org/obo/MONDO_0017189 adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia 'adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia' SubClassOf 'familial hyperinsulinism' http://purl.obolibrary.org/obo/MONDO_0017184 autosomal dominant hyperinsulinism due to SUR1 deficiency 'autosomal dominant hyperinsulinism due to SUR1 deficiency' SubClassOf 'diazoxide-sensitive diffuse hyperinsulinism' http://purl.obolibrary.org/obo/MONDO_0017185 autosomal dominant hyperinsulinism due to Kir6.2 deficiency 'autosomal dominant hyperinsulinism due to Kir6.2 deficiency' SubClassOf 'diazoxide-sensitive diffuse hyperinsulinism' 'autosomal dominant hyperinsulinism due to Kir6.2 deficiency' SubClassOf 'hyperinsulinemic hypoglycemia, familial, 2' http://purl.obolibrary.org/obo/MONDO_0017186 diazoxide-resistant hyperinsulinism 'diazoxide-resistant hyperinsulinism' SubClassOf 'congenital isolated hyperinsulinism' http://purl.obolibrary.org/obo/MONDO_0017187 diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency 'diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency' SubClassOf 'diazoxide-resistant focal hyperinsulinism' 'diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency' SubClassOf 'hyperinsulinemic hypoglycemia, familial, 1' http://purl.obolibrary.org/obo/MONDO_0017199 osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome 'osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0017195 Bruck syndrome 'Bruck syndrome' SubClassOf 'syndromic disease' 'Bruck syndrome' SubClassOf 'primary bone dysplasia' http://purl.obolibrary.org/obo/MONDO_0017196 osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome 'osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome' SubClassOf 'retinopathy' 'osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome' SubClassOf 'eye degenerative disorder' 'osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome' SubClassOf 'osteogenesis imperfecta' 'osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome' SubClassOf 'hereditary optic atrophy' 'osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome' SubClassOf 'developmental disability' http://purl.obolibrary.org/obo/MONDO_0017197 osteopathia striata-pigmentary dermopathy-white forelock syndrome 'osteopathia striata-pigmentary dermopathy-white forelock syndrome' SubClassOf 'genetic skin disease' 'osteopathia striata-pigmentary dermopathy-white forelock syndrome' SubClassOf 'hyperpigmentation of the skin' http://purl.obolibrary.org/obo/MONDO_0017198 osteopetrosis 'osteopetrosis' SubClassOf 'familial osteosclerosis' http://purl.obolibrary.org/obo/HP_0025700 Anhydramnios 'Anhydramnios' SubClassOf 'Abnormality of the amniotic fluid' http://purl.obolibrary.org/obo/MONDO_0007606 fibrodysplasia ossificans progressiva 'fibrodysplasia ossificans progressiva' SubClassOf 'subcutaneous tissue disorder' 'fibrodysplasia ossificans progressiva' SubClassOf 'genetic disorder' 'fibrodysplasia ossificans progressiva' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0007607 Birt-Hogg-Dube syndrome 'Birt-Hogg-Dube syndrome' SubClassOf 'inherited skin tumor' 'Birt-Hogg-Dube syndrome' SubClassOf 'autosomal dominant disease' 'Birt-Hogg-Dube syndrome' SubClassOf 'inherited renal cancer-predisposing syndrome' 'Birt-Hogg-Dube syndrome' SubClassOf 'kidney neoplasm' http://purl.obolibrary.org/obo/MONDO_0007604 femoral-facial syndrome 'femoral-facial syndrome' SubClassOf 'dysostosis of genetic origin' 'femoral-facial syndrome' SubClassOf 'congenital limb malformation' 'femoral-facial syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'femoral-facial syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'femoral-facial syndrome' SubClassOf 'orofacial clefting syndrome' http://purl.obolibrary.org/obo/MONDO_0007600 primary Fanconi syndrome 'primary Fanconi syndrome' SubClassOf 'inherited Fanconi renotubular syndrome' http://purl.obolibrary.org/obo/MONDO_0007615 laurin-Sandrow syndrome 'laurin-Sandrow syndrome' SubClassOf 'congenital limb malformation' 'laurin-Sandrow syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007614 congenital fibrosis of extraocular muscles 'congenital fibrosis of extraocular muscles' SubClassOf 'eyelids malposition disorder' 'congenital fibrosis of extraocular muscles' SubClassOf 'genetic nervous system disorder' 'congenital fibrosis of extraocular muscles' SubClassOf 'ocular motility disease' 'congenital fibrosis of extraocular muscles' SubClassOf 'myopathy of extraocular muscle' 'congenital fibrosis of extraocular muscles' SubClassOf 'neuro-ophthalmological disease' 'congenital fibrosis of extraocular muscles' SubClassOf 'progressive muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0007612 gingival fibromatosis-progressive deafness syndrome 'gingival fibromatosis-progressive deafness syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0007610 gingival fibromatosis-hypertrichosis syndrome 'gingival fibromatosis-hypertrichosis syndrome' SubClassOf 'hypertrichosis' 'gingival fibromatosis-hypertrichosis syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0007619 isolated congenital adermatoglyphia 'isolated congenital adermatoglyphia' SubClassOf 'genetic skin disease' 'isolated congenital adermatoglyphia' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0007626 familial congenital palsy of trochlear nerve 'familial congenital palsy of trochlear nerve' SubClassOf 'congenital trochlear nerve palsy' 'familial congenital palsy of trochlear nerve' SubClassOf 'genetic nervous system disorder' 'familial congenital palsy of trochlear nerve' SubClassOf 'congenital nervous system disorder' 'familial congenital palsy of trochlear nerve' SubClassOf 'nuclear oculomotor paralysis' 'familial congenital palsy of trochlear nerve' EquivalentTo 'fourth cranial nerve palsy' and ('has modifier' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0007627 focal facial dermal dysplasia type I 'focal facial dermal dysplasia type I' SubClassOf 'focal facial dermal dysplasia' http://purl.obolibrary.org/obo/MONDO_0007624 Flynn-Aird syndrome 'Flynn-Aird syndrome' SubClassOf 'premature aging syndrome' 'Flynn-Aird syndrome' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0007620 fish eye disease 'fish eye disease' SubClassOf 'inborn errors of metabolism' 'fish eye disease' SubClassOf 'LCAT deficiency' 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' 'floating-Harbor syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'floating-Harbor syndrome' SubClassOf 'genetic nervous system disorder' 'floating-Harbor syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger spectrum disorders 'Zellweger spectrum disorders' SubClassOf 'nephropathy secondary to a storage or other metabolic disease' 'Zellweger spectrum disorders' SubClassOf 'developmental anomaly of metabolic origin' 'Zellweger spectrum disorders' SubClassOf 'peroxisome biogenesis disorder' 'Zellweger spectrum disorders' SubClassOf 'eye degenerative disorder' 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 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019600 xeroderma pigmentosum 'xeroderma pigmentosum' SubClassOf 'progeroid syndrome' 'xeroderma pigmentosum' SubClassOf 'hereditary photodermatosis' 'xeroderma pigmentosum' SubClassOf 'developmental anomaly of metabolic origin' 'xeroderma pigmentosum' SubClassOf 'DNA repair deficiency' http://purl.obolibrary.org/obo/MONDO_0007639 fundus albipunctatus 'fundus albipunctatus' SubClassOf 'RDH5-related retinopathy' 'fundus albipunctatus' SubClassOf 'RLBP1-related retinopathy' 'fundus albipunctatus' SubClassOf 'familial flecked retinopathy' http://purl.obolibrary.org/obo/MONDO_0007635 Frasier syndrome 'Frasier syndrome' SubClassOf 'autosomal dominant disease' 'Frasier syndrome' SubClassOf '46,XY disorder of sex development' 'Frasier syndrome' SubClassOf 'syndromic disease' 'Frasier syndrome' SubClassOf 'primary glomerular disease' http://purl.obolibrary.org/obo/MONDO_0007636 frontorhiny 'frontorhiny' SubClassOf 'frontonasal dysplasia' 'frontorhiny' SubClassOf 'genetic head and neck malformation' 'frontorhiny' SubClassOf 'median facial cleft' http://purl.obolibrary.org/obo/MONDO_0007630 North Carolina macular dystrophy 'North Carolina macular dystrophy' SubClassOf 'genetic macular dystrophy' http://purl.obolibrary.org/obo/MONDO_0019619 duplication of the esophagus 'duplication of the esophagus' SubClassOf 'non-syndromic esophageal malformation' http://purl.obolibrary.org/obo/MONDO_0007648 hereditary diffuse gastric adenocarcinoma 'hereditary diffuse gastric adenocarcinoma' EquivalentTo 'diffuse gastric adenocarcinoma' and ('has modifier' some 'inherited') 'hereditary diffuse gastric adenocarcinoma' SubClassOf 'hereditary gastric cancer' 'hereditary diffuse gastric adenocarcinoma' SubClassOf 'diffuse gastric adenocarcinoma' 'hereditary diffuse gastric adenocarcinoma' SubClassOf 'genetic gastro-esophageal disease' http://purl.obolibrary.org/obo/MONDO_0007646 Gamstorp-Wohlfart syndrome 'Gamstorp-Wohlfart syndrome' SubClassOf 'autosomal recessive axonal hereditary motor and sensory neuropathy' 'Gamstorp-Wohlfart syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007640 Sorsby fundus dystrophy 'Sorsby fundus dystrophy' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0019628 Rieger anomaly 'Rieger anomaly' SubClassOf 'iridogoniodysgenesis' http://purl.obolibrary.org/obo/MONDO_0019627 isolated congenital alacrima 'isolated congenital alacrima' SubClassOf 'congenital alacrima' 'isolated congenital alacrima' SubClassOf 'has modifier' some 'has an isolated presentation' 'isolated congenital alacrima' EquivalentTo 'congenital alacrima' and ('has modifier' some 'has an isolated presentation') http://purl.obolibrary.org/obo/MONDO_0019629 sclerocornea 'sclerocornea' SubClassOf 'corneogoniodysgenesis' http://purl.obolibrary.org/obo/MONDO_0019623 hereditary angioedema 'hereditary angioedema' EquivalentTo 'angioedema' and ('has modifier' some 'inherited') 'hereditary angioedema' SubClassOf 'angioedema' 'hereditary angioedema' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0019626 isolated ankyloblepharon filiforme adnatum 'isolated ankyloblepharon filiforme adnatum' SubClassOf 'eyelid border anomaly' 'isolated ankyloblepharon filiforme adnatum' SubClassOf 'non-syndromic developmental defect of the eye' http://purl.obolibrary.org/obo/MONDO_0019625 familial thoracic aortic aneurysm and aortic dissection 'familial thoracic aortic aneurysm and aortic dissection' SubClassOf 'genetic disorder' 'familial thoracic aortic aneurysm and aortic dissection' SubClassOf 'vascular disease' 'familial thoracic aortic aneurysm and aortic dissection' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0019620 congenital esophageal diverticulum 'congenital esophageal diverticulum' SubClassOf 'non-syndromic esophageal malformation' 'congenital esophageal diverticulum' SubClassOf 'has modifier' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0007656 Gerstmann-Straussler-Scheinker syndrome 'Gerstmann-Straussler-Scheinker syndrome' SubClassOf 'inherited prion disease' http://purl.obolibrary.org/obo/MONDO_0007651 gastrocutaneous syndrome 'gastrocutaneous syndrome' SubClassOf 'hyperpigmentation of the skin' http://purl.obolibrary.org/obo/MONDO_0019638 renal dysplasia 'renal dysplasia' SubClassOf 'non-syndromic renal or urinary tract malformation' http://purl.obolibrary.org/obo/MONDO_0019637 renal hypoplasia 'renal hypoplasia' SubClassOf 'non-syndromic renal or urinary tract malformation' http://purl.obolibrary.org/obo/MONDO_0019636 renal agenesis, unilateral 'renal agenesis, unilateral' SubClassOf 'renal agenesis' http://purl.obolibrary.org/obo/MONDO_0019631 persistent hyperplastic primary vitreous 'persistent hyperplastic primary vitreous' SubClassOf 'syndromic cataract' 'persistent hyperplastic primary vitreous' SubClassOf 'vitreous disorder' 'persistent hyperplastic primary vitreous' SubClassOf 'congenital vitreoretinal dysplasia' http://purl.obolibrary.org/obo/MONDO_0019630 congenital ectropion uveae 'congenital ectropion uveae' SubClassOf 'has modifier' some 'congenital' 'congenital ectropion uveae' SubClassOf 'iridogoniodysgenesis' http://purl.obolibrary.org/obo/MONDO_0007669 renal cysts and diabetes syndrome 'renal cysts and diabetes syndrome' SubClassOf 'syndromic renal or urinary tract malformation' 'renal cysts and diabetes syndrome' SubClassOf 'inborn errors of metabolism' 'renal cysts and diabetes syndrome' SubClassOf 'maturity-onset diabetes of the young' 'renal cysts and diabetes syndrome' SubClassOf 'syndromic urogenital tract malformation' 'renal cysts and diabetes syndrome' SubClassOf 'developmental anomaly of metabolic origin' http://purl.obolibrary.org/obo/MONDO_0007666 glaucoma-sleep apnea syndrome 'glaucoma-sleep apnea syndrome' SubClassOf 'syndromic disease' 'glaucoma-sleep apnea syndrome' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0019645 renal dysplasia, bilateral 'renal dysplasia, bilateral' SubClassOf 'renal dysplasia' http://purl.obolibrary.org/obo/MONDO_0019648 achondrogenesis 'achondrogenesis' SubClassOf 'spondylodysplastic dysplasia' 'achondrogenesis' SubClassOf 'osteochondrodysplasia' 'achondrogenesis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0019642 vitamin D-dependent rickets, type 2 'vitamin D-dependent rickets, type 2' SubClassOf 'hypocalcemic rickets' 'vitamin D-dependent rickets, type 2' SubClassOf 'vitamin D-dependent rickets' http://purl.obolibrary.org/obo/MONDO_0019644 renal dysplasia, unilateral 'renal dysplasia, unilateral' SubClassOf 'renal dysplasia' http://purl.obolibrary.org/obo/MONDO_0019640 posterior urethral valve 'posterior urethral valve' SubClassOf 'fetal lower urinary tract obstruction' http://purl.obolibrary.org/obo/MONDO_0007679 GMS syndrome 'GMS syndrome' SubClassOf 'goniodysgenesis' 'GMS syndrome' SubClassOf 'genetic nervous system disorder' 'GMS syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007671 fibronectin glomerulopathy 'fibronectin glomerulopathy' SubClassOf 'genetic disorder' 'fibronectin glomerulopathy' SubClassOf 'primary glomerular disease' http://purl.obolibrary.org/obo/MONDO_0007672 glomuvenous malformation 'glomuvenous malformation' SubClassOf 'genetic central nervous system and retinal vascular disease' 'glomuvenous malformation' SubClassOf 'neurovascular malformation' 'glomuvenous malformation' SubClassOf 'simple vascular malformation' 'glomuvenous malformation' SubClassOf 'genetic vascular anomaly' http://purl.obolibrary.org/obo/MONDO_0007670 hypotrichosis-lymphedema-telangiectasia syndrome (grouping) 'hypotrichosis-lymphedema-telangiectasia syndrome (grouping)' SubClassOf 'lymphatic malformation' 'hypotrichosis-lymphedema-telangiectasia syndrome (grouping)' SubClassOf 'syndromic lymphedema' http://purl.obolibrary.org/obo/MONDO_0019656 sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis 'sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis' SubClassOf 'sporadic idiopathic steroid-resistant nephrotic syndrome' http://purl.obolibrary.org/obo/MONDO_0019659 Pfeiffer syndrome type 1 'Pfeiffer syndrome type 1' SubClassOf 'Pfeiffer syndrome' http://purl.obolibrary.org/obo/MONDO_0044626 female infertility due to oocyte meiotic arrest 'female infertility due to oocyte meiotic arrest' SubClassOf 'female infertility' http://purl.obolibrary.org/obo/MONDO_0019653 familial idiopathic steroid-resistant nephrotic syndrome with minimal changes 'familial idiopathic steroid-resistant nephrotic syndrome with minimal changes' SubClassOf 'familial idiopathic steroid-resistant nephrotic syndrome' http://purl.obolibrary.org/obo/MONDO_0019652 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation 'familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation' SubClassOf 'familial idiopathic steroid-resistant nephrotic syndrome' http://purl.obolibrary.org/obo/MONDO_0019655 sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis 'sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' SubClassOf 'sporadic idiopathic steroid-resistant nephrotic syndrome' http://purl.obolibrary.org/obo/MONDO_0019654 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis 'familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis' SubClassOf 'familial idiopathic steroid-resistant nephrotic syndrome' http://purl.obolibrary.org/obo/MONDO_0007688 Myhre syndrome 'Myhre syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Myhre syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Myhre syndrome' SubClassOf 'congenital nervous system disorder' 'Myhre syndrome' SubClassOf 'syndromic intellectual disability' 'Myhre syndrome' SubClassOf 'acromelic dysplasia' 'Myhre syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0007686 gray platelet syndrome 'gray platelet syndrome' SubClassOf 'syndromic disease' 'gray platelet syndrome' SubClassOf 'inherited bleeding disorder, platelet-type' 'gray platelet syndrome' SubClassOf 'alpha granule disease' http://purl.obolibrary.org/obo/MONDO_0007683 Grant syndrome 'Grant syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007680 multinodular goiter-cystic kidney-polydactyly syndrome 'multinodular goiter-cystic kidney-polydactyly syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007681 goiter, multinodular 1, with or without Sertoli-Leydig cell tumors 'goiter, multinodular 1, with or without Sertoli-Leydig cell tumors' SubClassOf 'multinodular goiter' 'goiter, multinodular 1, with or without Sertoli-Leydig cell tumors' SubClassOf 'hereditary neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0017009 partial duplication of the short arm of chromosome X 'partial duplication of the short arm of chromosome X' SubClassOf 'partial duplication of chromosome X' http://purl.obolibrary.org/obo/MONDO_0007690 aromatase excess syndrome 'aromatase excess syndrome' SubClassOf 'inborn errors of metabolism' 'aromatase excess syndrome' SubClassOf 'disease has feature' some 'peripheral precocious puberty' 'aromatase excess syndrome' SubClassOf 'reproductive system disease' http://purl.obolibrary.org/obo/MONDO_0017005 obsolete Y chromosome number anomaly 'obsolete Y chromosome number anomaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019667 spondyloepiphyseal dysplasia tarda 'spondyloepiphyseal dysplasia tarda' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0017006 obsolete X and Y chromosomal anomaly 'obsolete X and Y chromosomal anomaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017007 partial deletion of the long arm of chromosome X 'partial deletion of the long arm of chromosome X' SubClassOf 'partial deletion of chromosome X' http://purl.obolibrary.org/obo/MONDO_0017008 partial duplication of chromosome X 'partial duplication of chromosome X' SubClassOf 'chromosome X disorder' 'partial duplication of chromosome X' SubClassOf 'syndrome caused by partial chromosomal duplication' http://purl.obolibrary.org/obo/MONDO_0019669 hypochondrogenesis 'hypochondrogenesis' SubClassOf 'hereditary disorder of connective tissue' 'hypochondrogenesis' SubClassOf 'type 2 collagenopathy' 'hypochondrogenesis' SubClassOf 'achondrogenesis' http://purl.obolibrary.org/obo/MONDO_0019664 short rib-polydactyly syndrome, Verma-Naumoff type 'short rib-polydactyly syndrome, Verma-Naumoff type' SubClassOf 'short rib-polydactyly syndrome' 'short rib-polydactyly syndrome, Verma-Naumoff type' SubClassOf 'syndromic anorectal malformation' http://purl.obolibrary.org/obo/MONDO_0017002 obsolete polysomy of X chromosome 'obsolete polysomy of X chromosome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017003 partial deletion of chromosome X 'partial deletion of chromosome X' SubClassOf 'syndrome caused by partial chromosomal deletion' 'partial deletion of chromosome X' SubClassOf 'chromosome X disorder' http://purl.obolibrary.org/obo/MONDO_0019666 spondyloepimetaphyseal dysplasia, PAPSS2 type 'spondyloepimetaphyseal dysplasia, PAPSS2 type' SubClassOf 'sulfation-related bone disorder' 'spondyloepimetaphyseal dysplasia, PAPSS2 type' SubClassOf 'genetic disorder' 'spondyloepimetaphyseal dysplasia, PAPSS2 type' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0017004 partial monosomy of the short arm of chromosome X 'partial monosomy of the short arm of chromosome X' SubClassOf 'partial deletion of chromosome X' http://purl.obolibrary.org/obo/MONDO_0019665 monostotic fibrous dysplasia 'monostotic fibrous dysplasia' SubClassOf 'fibrous dysplasia' http://purl.obolibrary.org/obo/MONDO_0019660 Pfeiffer syndrome type 2 'Pfeiffer syndrome type 2' SubClassOf 'Pfeiffer syndrome' http://purl.obolibrary.org/obo/MONDO_0019662 short rib-polydactyly syndrome, Majewski type 'short rib-polydactyly syndrome, Majewski type' SubClassOf 'short rib-polydactyly syndrome' http://purl.obolibrary.org/obo/MONDO_0019661 Pfeiffer syndrome type 3 'Pfeiffer syndrome type 3' SubClassOf 'Pfeiffer syndrome' http://purl.obolibrary.org/obo/MONDO_0019680 genochondromatosis type 2 'genochondromatosis type 2' SubClassOf 'genochondromatosis' http://purl.obolibrary.org/obo/MONDO_0007698 hand-foot-genital syndrome 'hand-foot-genital syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'hand-foot-genital syndrome' SubClassOf 'congenital limb malformation' 'hand-foot-genital syndrome' SubClassOf 'dysostosis of genetic origin' 'hand-foot-genital syndrome' SubClassOf 'syndromic uterovaginal malformation' 'hand-foot-genital syndrome' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0007696 Emery-Nelson syndrome 'Emery-Nelson syndrome' SubClassOf 'congenital limb malformation' 'Emery-Nelson syndrome' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0007693 hypertrichosis cubiti-short stature syndrome 'hypertrichosis cubiti-short stature syndrome' SubClassOf 'hypertrichosis' 'hypertrichosis cubiti-short stature syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0019679 brachydactyly type A7 'brachydactyly type A7' SubClassOf 'brachydactyly' http://purl.obolibrary.org/obo/MONDO_0019678 brachydactyly type A5 'brachydactyly type A5' SubClassOf 'brachydactyly' http://purl.obolibrary.org/obo/MONDO_0019675 spondyloepimetaphyseal dysplasia with joint laxity 'spondyloepimetaphyseal dysplasia with joint laxity' SubClassOf 'spondyloepiphyseal dysplasia' 'spondyloepimetaphyseal dysplasia with joint laxity' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0017012 partial duplication of the short arm of chromosome 1 'partial duplication of the short arm of chromosome 1' SubClassOf 'partial duplication of chromosome 1' http://purl.obolibrary.org/obo/MONDO_0017013 trisomy 8p 'trisomy 8p' SubClassOf 'partial duplication of the short arm of chromosome 8' http://purl.obolibrary.org/obo/MONDO_0019674 postaxial polydactyly type B 'postaxial polydactyly type B' SubClassOf 'postaxial polydactyly' http://purl.obolibrary.org/obo/MONDO_0019677 brachydactyly type E 'brachydactyly type E' SubClassOf 'brachydactyly' http://purl.obolibrary.org/obo/MONDO_0019676 brachydactyly type B 'brachydactyly type B' SubClassOf 'brachydactyly' http://purl.obolibrary.org/obo/MONDO_0019671 radial hemimelia 'radial hemimelia' SubClassOf 'hemimelia' http://purl.obolibrary.org/obo/MONDO_0019670 ulnar hemimelia 'ulnar hemimelia' SubClassOf 'hemimelia' http://purl.obolibrary.org/obo/MONDO_0017010 partial duplication of the long arm of chromosome X 'partial duplication of the long arm of chromosome X' SubClassOf 'partial duplication of chromosome X' http://purl.obolibrary.org/obo/MONDO_0019673 postaxial polydactyly type A 'postaxial polydactyly type A' SubClassOf 'postaxial polydactyly' http://purl.obolibrary.org/obo/MONDO_0017011 obsolete uniparental disomy of chromosome X 'obsolete uniparental disomy of chromosome X' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019672 fibular hemimelia 'fibular hemimelia' SubClassOf 'hemimelia' http://purl.obolibrary.org/obo/MONDO_0019691 short rib dysplasia 'short rib dysplasia' SubClassOf 'primary bone dysplasia' http://purl.obolibrary.org/obo/MONDO_0019690 filamin-related bone disorder 'filamin-related bone disorder' SubClassOf 'bone disease' http://purl.obolibrary.org/obo/MONDO_0019689 perlecan-related bone disorder 'perlecan-related bone disorder' SubClassOf 'bone disease' http://purl.obolibrary.org/obo/MONDO_0019685 FGFR3-related chondrodysplasia 'FGFR3-related chondrodysplasia' SubClassOf 'bone disease' http://purl.obolibrary.org/obo/MONDO_0019688 sulfation-related bone disorder 'sulfation-related bone disorder' SubClassOf 'bone disease' http://purl.obolibrary.org/obo/MONDO_0019682 congenital sialidosis type 2 'congenital sialidosis type 2' SubClassOf 'sialidosis type 2' http://purl.obolibrary.org/obo/MONDO_0019681 juvenile sialidosis type 2 'juvenile sialidosis type 2' SubClassOf 'sialidosis type 2' http://purl.obolibrary.org/obo/MONDO_0019683 obsolete syndactyly type 2 'obsolete syndactyly type 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020693 glycogen storage disease due to liver phosphorylase kinase deficiency 'glycogen storage disease IXb' DisjointWith 'glycogen storage disease due to liver phosphorylase kinase deficiency' 'glycogen storage disease due to liver phosphorylase kinase deficiency' SubClassOf 'has modifier' some 'rare' 'glycogen storage disease due to liver phosphorylase kinase deficiency' SubClassOf 'glycogen storage disease' 'glycogen storage disease due to liver phosphorylase kinase deficiency' SubClassOf 'liver disease' http://purl.obolibrary.org/obo/MONDO_0019697 mesomelic and rhizo-mesomelic dysplasia 'mesomelic and rhizo-mesomelic dysplasia' SubClassOf 'primary bone dysplasia' http://purl.obolibrary.org/obo/MONDO_0019696 acromesomelic dysplasia 'acromesomelic dysplasia' SubClassOf 'primary bone dysplasia' 'acromesomelic dysplasia' SubClassOf 'genetic disorder' 'acromesomelic dysplasia' SubClassOf 'osteochondrodysplasia' http://purl.obolibrary.org/obo/MONDO_0019699 slender bone dysplasia 'slender bone dysplasia' SubClassOf 'primary bone dysplasia' http://purl.obolibrary.org/obo/MONDO_0019698 bent bone dysplasia 'bent bone dysplasia' SubClassOf 'primary bone dysplasia' http://purl.obolibrary.org/obo/MONDO_0019693 multiple metaphyseal dysplasia 'multiple metaphyseal dysplasia' SubClassOf 'primary bone dysplasia' http://purl.obolibrary.org/obo/MONDO_0019692 multiple epiphyseal dysplasia and pseudoachondroplasia 'multiple epiphyseal dysplasia and pseudoachondroplasia' SubClassOf 'primary bone dysplasia' http://purl.obolibrary.org/obo/MONDO_0019695 acromelic dysplasia 'acromelic dysplasia' SubClassOf 'primary bone dysplasia' http://purl.obolibrary.org/obo/MONDO_0019694 spondylodysplastic dysplasia 'spondylodysplastic dysplasia' SubClassOf 'primary bone dysplasia' http://purl.obolibrary.org/obo/MONDO_0017051 classic maple syrup urine disease 'classic maple syrup urine disease' SubClassOf 'maple syrup urine disease' http://purl.obolibrary.org/obo/MONDO_0017049 hypomyelination neuropathy-arthrogryposis syndrome 'hypomyelination neuropathy-arthrogryposis syndrome' SubClassOf 'arthrogryposis multiplex congenita' http://purl.obolibrary.org/obo/MONDO_0017045 neuroectodermal-endocrine syndrome 'neuroectodermal-endocrine syndrome' SubClassOf 'syndromic intellectual disability' 'neuroectodermal-endocrine syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'neuroectodermal-endocrine syndrome' SubClassOf 'polyendocrinopathy' 'neuroectodermal-endocrine syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0017047 infantile axonal neuropathy 'infantile axonal neuropathy' SubClassOf 'genetic peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0017041 osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome 'osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome' SubClassOf 'syndromic retinitis pigmentosa' 'osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0017042 thanatophoric dysplasia 'thanatophoric dysplasia' SubClassOf 'FGFR3-related chondrodysplasia' 'thanatophoric dysplasia' SubClassOf 'osteochondrodysplasia' http://purl.obolibrary.org/obo/MONDO_0017044 adult familial nephronophthisis-spastic quadriparesia syndrome 'adult familial nephronophthisis-spastic quadriparesia syndrome' SubClassOf 'familial cystic renal disease' http://purl.obolibrary.org/obo/MONDO_0017060 open iniencephaly 'open iniencephaly' SubClassOf 'iniencephaly' http://purl.obolibrary.org/obo/MONDO_0017061 closed iniencephaly 'closed iniencephaly' SubClassOf 'iniencephaly' http://purl.obolibrary.org/obo/MONDO_0017062 spina bifida aperta 'spina bifida aperta' SubClassOf 'isolated spina bifida' http://purl.obolibrary.org/obo/MONDO_0017056 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion 'DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion' SubClassOf 'partial deletion of the long arm of chromosome 21' 'DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion' SubClassOf 'DYRK1A-related intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0017057 hereditary thrombocytopenia with normal platelets 'hereditary thrombocytopenia with normal platelets' SubClassOf 'isolated constitutional thrombocytopenia' http://purl.obolibrary.org/obo/MONDO_0017058 autosomal recessive intermediate Charcot-Marie-Tooth disease 'autosomal recessive intermediate Charcot-Marie-Tooth disease' SubClassOf 'autosomal recessive disease' 'autosomal recessive intermediate Charcot-Marie-Tooth disease' SubClassOf 'intermediate Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0017059 neural tube closure defect 'neural tube closure defect' SubClassOf 'neural tube defect' http://purl.obolibrary.org/obo/MONDO_0017052 intermediate maple syrup urine disease 'intermediate maple syrup urine disease' SubClassOf 'maple syrup urine disease' http://purl.obolibrary.org/obo/MONDO_0017053 intermittent maple syrup urine disease 'intermittent maple syrup urine disease' SubClassOf 'maple syrup urine disease' http://purl.obolibrary.org/obo/MONDO_0017054 thiamine-responsive maple syrup urine disease 'thiamine-responsive maple syrup urine disease' SubClassOf 'maple syrup urine disease' http://purl.obolibrary.org/obo/MONDO_0017070 total spina bifida cystica 'total spina bifida cystica' SubClassOf 'myelomeningocele' http://purl.obolibrary.org/obo/MONDO_0017071 thoracolumbosacral spina bifida cystica 'thoracolumbosacral spina bifida cystica' SubClassOf 'myelomeningocele' http://purl.obolibrary.org/obo/MONDO_0017072 lumbosacral spina bifida cystica 'lumbosacral spina bifida cystica' SubClassOf 'myelomeningocele' http://purl.obolibrary.org/obo/MONDO_0017073 cervical spina bifida cystica 'cervical spina bifida cystica' SubClassOf 'myelomeningocele' http://purl.obolibrary.org/obo/MONDO_0017067 cervicothoracic spina bifida aperta 'cervicothoracic spina bifida aperta' SubClassOf 'spina bifida aperta' http://purl.obolibrary.org/obo/MONDO_0017068 upper thoracic spina bifida aperta 'upper thoracic spina bifida aperta' SubClassOf 'spina bifida aperta' http://purl.obolibrary.org/obo/MONDO_0017069 spina bifida cystica 'spina bifida cystica' SubClassOf 'isolated spina bifida' http://purl.obolibrary.org/obo/MONDO_0032684 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency 'intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0017063 total spina bifida aperta 'total spina bifida aperta' SubClassOf 'spina bifida aperta' http://purl.obolibrary.org/obo/MONDO_0017064 thoracolumbosacral spina bifida aperta 'thoracolumbosacral spina bifida aperta' SubClassOf 'spina bifida aperta' http://purl.obolibrary.org/obo/MONDO_0017065 lumbosacral spina bifida aperta 'lumbosacral spina bifida aperta' SubClassOf 'spina bifida aperta' http://purl.obolibrary.org/obo/MONDO_0017066 cervical spina bifida aperta 'cervical spina bifida aperta' SubClassOf 'spina bifida aperta' http://purl.obolibrary.org/obo/MONDO_0017081 parietal encephalocele 'parietal encephalocele' SubClassOf 'isolated encephalocele' http://purl.obolibrary.org/obo/MONDO_0017082 basal encephalocele 'basal encephalocele' SubClassOf 'isolated encephalocele' http://purl.obolibrary.org/obo/MONDO_0017084 leptomyelolipoma 'leptomyelolipoma' SubClassOf 'neural tube closure defect' http://purl.obolibrary.org/obo/MONDO_0017080 occipital encephalocele 'occipital encephalocele' SubClassOf 'isolated encephalocele' http://purl.obolibrary.org/obo/MONDO_0017078 cephalocele 'cephalocele' SubClassOf 'neural tube closure defect' 'cephalocele' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0017079 meningoencephalocele 'meningoencephalocele' SubClassOf 'meningocele' 'meningoencephalocele' SubClassOf 'brain disease' 'meningoencephalocele' SubClassOf 'cephalocele' http://purl.obolibrary.org/obo/MONDO_0017074 cervicothoracic spina bifida cystica 'cervicothoracic spina bifida cystica' SubClassOf 'myelomeningocele' http://purl.obolibrary.org/obo/MONDO_0017075 upper thoracic spina bifida cystica 'upper thoracic spina bifida cystica' SubClassOf 'myelomeningocele' http://purl.obolibrary.org/obo/MONDO_0017076 posterior meningocele 'posterior meningocele' SubClassOf 'spina bifida cystica' http://purl.obolibrary.org/obo/MONDO_0017077 myelocystocele 'myelocystocele' SubClassOf 'spina bifida cystica' http://purl.obolibrary.org/obo/MONDO_0017092 unilateral polymicrogyria 'unilateral polymicrogyria' SubClassOf 'polymicrogyria' http://purl.obolibrary.org/obo/MONDO_0017093 unilateral focal polymicrogyria 'unilateral focal polymicrogyria' SubClassOf 'unilateral polymicrogyria' http://purl.obolibrary.org/obo/MONDO_0017094 cerebral cortical dysplasia 'cerebral cortical dysplasia' SubClassOf 'disease has feature' some 'structural epilepsy' 'cerebral cortical dysplasia' SubClassOf 'cerebral malformation' http://purl.obolibrary.org/obo/MONDO_0017095 isolated focal cortical dysplasia type I 'isolated focal cortical dysplasia type I' SubClassOf 'isolated focal cortical dysplasia' http://purl.obolibrary.org/obo/MONDO_0017090 midline cerebral malformation 'midline cerebral malformation' SubClassOf 'cerebral malformation' 'midline cerebral malformation' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0017091 bilateral polymicrogyria 'bilateral polymicrogyria' SubClassOf 'polymicrogyria' http://purl.obolibrary.org/obo/MONDO_0017086 primary tethered cord syndrome 'primary tethered cord syndrome' SubClassOf 'neural tube defect' http://purl.obolibrary.org/obo/MONDO_0017087 neurenteric cyst 'neurenteric cyst' SubClassOf 'neural tube defect' http://purl.obolibrary.org/obo/MONDO_0017088 isolated amyelia 'isolated amyelia' SubClassOf 'neural tube defect' http://purl.obolibrary.org/obo/MONDO_0017096 isolated focal cortical dysplasia type Ia 'isolated focal cortical dysplasia type Ia' SubClassOf 'isolated focal cortical dysplasia type I' http://purl.obolibrary.org/obo/MONDO_0017097 isolated focal cortical dysplasia type Ib 'isolated focal cortical dysplasia type Ib' SubClassOf 'isolated focal cortical dysplasia type I' http://purl.obolibrary.org/obo/MONDO_0017098 isolated focal cortical dysplasia type Ic 'isolated focal cortical dysplasia type Ic' SubClassOf 'isolated focal cortical dysplasia type I' http://purl.obolibrary.org/obo/MONDO_0007507 absence of fingerprints-congenital milia syndrome 'absence of fingerprints-congenital milia syndrome' SubClassOf 'has modifier' some 'congenital' 'absence of fingerprints-congenital milia syndrome' SubClassOf 'genetic skin disease' 'absence of fingerprints-congenital milia syndrome' SubClassOf 'epidermal disease' http://purl.obolibrary.org/obo/MONDO_0007504 thickened earlobes-conductive deafness syndrome 'thickened earlobes-conductive deafness syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0007510 Clouston syndrome 'Clouston syndrome' SubClassOf 'diffuse palmoplantar keratoderma' 'Clouston syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0007511 ectodermal dysplasia, trichoodontoonychial type 'ectodermal dysplasia, trichoodontoonychial type' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0007527 Ehlers-Danlos syndrome, periodontitis type 'Ehlers-Danlos syndrome, periodontitis type' SubClassOf 'Ehlers-Danlos syndrome' http://purl.obolibrary.org/obo/MONDO_0007525 Ehlers-Danlos syndrome, arthrochalasis type 'Ehlers-Danlos syndrome, arthrochalasis type' SubClassOf 'Ehlers-Danlos syndrome' http://purl.obolibrary.org/obo/MONDO_0007526 Ehlers-Danlos syndrome, spondylodysplastic type 'Ehlers-Danlos syndrome, spondylodysplastic type' SubClassOf 'congenital disorder of glycosylation-related bone disorder' 'Ehlers-Danlos syndrome, spondylodysplastic type' SubClassOf 'has modifier' some 'rare' 'Ehlers-Danlos syndrome, spondylodysplastic type' SubClassOf 'disorder of O-xylosylglycan synthesis' 'Ehlers-Danlos syndrome, spondylodysplastic type' SubClassOf 'Ehlers-Danlos syndrome' http://purl.obolibrary.org/obo/MONDO_0007523 Ehlers-Danlos syndrome, hypermobility type 'Ehlers-Danlos syndrome, hypermobility type' SubClassOf 'Ehlers-Danlos syndrome' http://purl.obolibrary.org/obo/MONDO_0007522 Ehlers-Danlos syndrome, classic type 'Ehlers-Danlos syndrome, classic type' SubClassOf 'syndromic diaphragmatic or abdominal wall malformation' 'Ehlers-Danlos syndrome, classic type' SubClassOf 'syndromic diaphragmatic or thoracic malformation' 'Ehlers-Danlos syndrome, classic type' SubClassOf 'autosomal dominant disease' 'Ehlers-Danlos syndrome, classic type' SubClassOf 'Ehlers-Danlos syndrome' http://purl.obolibrary.org/obo/MONDO_0019507 amelogenesis imperfecta 'amelogenesis imperfecta' SubClassOf 'genetic disorder' 'amelogenesis imperfecta' SubClassOf 'Dental enamel hypoplasia' http://purl.obolibrary.org/obo/MONDO_0019506 obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome 'obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome' SubClassOf 'syndromic hypothyroidism' http://purl.obolibrary.org/obo/MONDO_0019508 van der Woude syndrome 'van der Woude syndrome' SubClassOf 'syndromic disease' 'van der Woude syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019503 anterior segment dysgenesis 'anterior segment dysgenesis' SubClassOf 'developmental defect of the eye' 'anterior segment dysgenesis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0019502 autosomal recessive non-syndromic intellectual disability 'autosomal recessive non-syndromic intellectual disability' SubClassOf 'genetic nervous system disorder' 'autosomal recessive non-syndromic intellectual disability' SubClassOf 'non-syndromic intellectual disability' 'autosomal recessive non-syndromic intellectual disability' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0019505 hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome 'hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome' SubClassOf 'congenital hypogonadotropic hypogonadism' http://purl.obolibrary.org/obo/MONDO_0019501 Usher syndrome 'Usher syndrome' SubClassOf 'syndromic retinitis pigmentosa' 'Usher syndrome' SubClassOf 'syndromic genetic hearing loss' 'Usher syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0007538 amelogenesis imperfecta, type 3A 'amelogenesis imperfecta, type 3A' SubClassOf 'amelogenesis imperfecta' http://purl.obolibrary.org/obo/MONDO_0007536 congenital lobar emphysema 'congenital lobar emphysema' SubClassOf 'respiratory or mediastinal malformation' 'congenital lobar emphysema' SubClassOf 'emphysema' 'congenital lobar emphysema' SubClassOf 'respiratory malformation' http://purl.obolibrary.org/obo/MONDO_0007537 lateral meningocele syndrome 'lateral meningocele syndrome' SubClassOf 'neural tube defect' 'lateral meningocele syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0007534 Beckwith-Wiedemann syndrome 'Beckwith-Wiedemann syndrome' SubClassOf 'inherited renal cancer-predisposing syndrome' 'Beckwith-Wiedemann syndrome' SubClassOf 'overgrowth syndrome' 'Beckwith-Wiedemann syndrome' SubClassOf 'familial hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0020510 idiopathic syringomyelia 'idiopathic syringomyelia' EquivalentTo 'primary syringomyelia' and ('has modifier' some 'idiopathic') 'idiopathic syringomyelia' SubClassOf 'idiopathic disease' 'idiopathic syringomyelia' SubClassOf 'primary syringomyelia' 'idiopathic syringomyelia' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0019518 Waardenburg-Shah syndrome 'Waardenburg-Shah syndrome' SubClassOf 'intestinal motility disease' 'Waardenburg-Shah syndrome' SubClassOf 'neurocristopathy' 'Waardenburg-Shah syndrome' SubClassOf 'Waardenburg syndrome' http://purl.obolibrary.org/obo/MONDO_0019517 Waardenburg syndrome type 2 'Waardenburg syndrome type 2' SubClassOf 'Waardenburg syndrome' http://purl.obolibrary.org/obo/MONDO_0019513 esophageal malformation 'esophageal malformation' SubClassOf 'esophageal disease' 'esophageal malformation' SubClassOf 'digestive tract malformation' http://purl.obolibrary.org/obo/MONDO_0019516 exudative vitreoretinopathy 'exudative vitreoretinopathy' SubClassOf 'retinal vascular disorder' 'exudative vitreoretinopathy' SubClassOf 'genetic central nervous system and retinal vascular disease' 'exudative vitreoretinopathy' SubClassOf 'vitreoretinal degeneration' http://purl.obolibrary.org/obo/MONDO_0019511 autosomal dominant medullary cystic kidney disease with hyperuricemia 'autosomal dominant medullary cystic kidney disease with hyperuricemia' SubClassOf 'autosomal dominant medullary cystic kidney disease with or without hyperuricemia' http://purl.obolibrary.org/obo/MONDO_0007549 generalized dominant dystrophic epidermolysis bullosa 'generalized dominant dystrophic epidermolysis bullosa' SubClassOf 'epidermolysis bullosa dystrophica' http://purl.obolibrary.org/obo/MONDO_0007548 transient bullous dermolysis of the newborn 'transient bullous dermolysis of the newborn' SubClassOf 'epidermolysis bullosa dystrophica' http://purl.obolibrary.org/obo/MONDO_0007542 Camurati-Engelmann disease 'Camurati-Engelmann disease' SubClassOf 'genetic disorder' 'Camurati-Engelmann disease' SubClassOf 'syndromic disease' 'Camurati-Engelmann disease' SubClassOf 'primary bone dysplasia' http://purl.obolibrary.org/obo/MONDO_0007540 multiple endocrine neoplasia type 1 'multiple endocrine neoplasia type 1' SubClassOf 'multiple endocrine neoplasia' 'multiple endocrine neoplasia type 1' SubClassOf 'familial primary hyperparathyroidism' 'multiple endocrine neoplasia type 1' SubClassOf 'autosomal dominant disease' 'multiple endocrine neoplasia type 1' SubClassOf 'adrenal/paraganglial tumor' 'multiple endocrine neoplasia type 1' SubClassOf 'inherited digestive cancer-predisposing syndrome' http://purl.obolibrary.org/obo/MONDO_0020507 Cree leukoencephalopathy 'Cree leukoencephalopathy' SubClassOf 'leukoencephalopathy with vanishing white matter' http://purl.obolibrary.org/obo/MONDO_0020506 ovarioleukodystrophy 'ovarioleukodystrophy' SubClassOf 'leukoencephalopathy with vanishing white matter' http://purl.obolibrary.org/obo/MONDO_0020505 ravine syndrome 'ravine syndrome' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0020504 genetic recurrent myoglobinuria 'genetic recurrent myoglobinuria' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0019525 tetrasomy X 'tetrasomy X' SubClassOf 'tetrasomy' 'tetrasomy X' SubClassOf 'inherited primary ovarian failure' 'tetrasomy X' SubClassOf 'chromosome X disorder' http://purl.obolibrary.org/obo/MONDO_0020503 resistance to thyrotropin-releasing hormone syndrome 'resistance to thyrotropin-releasing hormone syndrome' SubClassOf 'central congenital hypothyroidism' http://purl.obolibrary.org/obo/MONDO_0019524 infantile Bartter syndrome with sensorineural deafness 'infantile Bartter syndrome with sensorineural deafness' SubClassOf 'Bartter syndrome' 'infantile Bartter syndrome with sensorineural deafness' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0019521 centripetalis recessive dystrophic epidermolysis bullosa 'centripetalis recessive dystrophic epidermolysis bullosa' SubClassOf 'epidermolysis bullosa dystrophica' http://purl.obolibrary.org/obo/MONDO_0019520 syndromic lymphedema 'syndromic lymphedema' SubClassOf 'syndromic disease' 'syndromic lymphedema' EquivalentTo 'lymphedema' and ('has modifier' some 'has a syndromic presentation') 'syndromic lymphedema' SubClassOf 'lymphedema' http://purl.obolibrary.org/obo/MONDO_0019522 recessive dystrophic epidermolysis bullosa-generalized other 'recessive dystrophic epidermolysis bullosa-generalized other' SubClassOf 'epidermolysis bullosa dystrophica' http://purl.obolibrary.org/obo/MONDO_0020508 primary syringomyelia 'primary syringomyelia' SubClassOf 'syringomyelia' http://purl.obolibrary.org/obo/MONDO_0007558 benign occipital epilepsy 'benign occipital epilepsy' SubClassOf 'childhood-onset epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0007556 epidermolysis bullosa simplex 2F, with mottled pigmentation 'epidermolysis bullosa simplex 2F, with mottled pigmentation' SubClassOf 'basal epidermolysis bullosa simplex' http://purl.obolibrary.org/obo/MONDO_0007554 epidermolysis bullosa simplex 1B, generalized intermediate 'epidermolysis bullosa simplex 1B, generalized intermediate' SubClassOf 'basal epidermolysis bullosa simplex' http://purl.obolibrary.org/obo/MONDO_0007555 pidermolysis bullosa simplex 5A, Ogna type 'pidermolysis bullosa simplex 5A, Ogna type' SubClassOf 'basal epidermolysis bullosa simplex' http://purl.obolibrary.org/obo/MONDO_0020531 long chain acyl-CoA dehydrogenase deficiency 'long chain acyl-CoA dehydrogenase deficiency' SubClassOf 'familial hypertrophic cardiomyopathy' 'long chain acyl-CoA dehydrogenase deficiency' SubClassOf 'disorder of fatty acid oxidation and ketogenesis' http://purl.obolibrary.org/obo/MONDO_0007552 pretibial dystrophic epidermolysis bullosa 'pretibial dystrophic epidermolysis bullosa' SubClassOf 'epidermolysis bullosa dystrophica' http://purl.obolibrary.org/obo/MONDO_0020530 mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency 'mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency' SubClassOf 'inherited susceptibility to mycobacterial diseases' http://purl.obolibrary.org/obo/MONDO_0007550 epidermolysis bullosa simplex 1A, generalized severe 'epidermolysis bullosa simplex 1A, generalized severe' SubClassOf 'basal epidermolysis bullosa simplex' http://purl.obolibrary.org/obo/MONDO_0007551 epidermolysis bullosa simplex 1C, localized 'epidermolysis bullosa simplex 1C, localized' SubClassOf 'basal epidermolysis bullosa simplex' http://purl.obolibrary.org/obo/MONDO_0019537 hemoglobin D disease 'hemoglobin D disease' SubClassOf 'inherited hemoglobinopathy' 'hemoglobin D disease' SubClassOf 'anemia' http://purl.obolibrary.org/obo/MONDO_0019531 hemolytic anemia due to glutathione reductase deficiency 'hemolytic anemia due to glutathione reductase deficiency' SubClassOf 'normocytic anemia' http://purl.obolibrary.org/obo/MONDO_0019530 non-syndromic syndactyly 'non-syndromic syndactyly' SubClassOf 'syndactyly' 'non-syndromic syndactyly' SubClassOf 'non-syndromic polydactyly, syndactyly and/or hyperphalangy' 'syndromic disease' DisjointWith 'non-syndromic syndactyly' http://purl.obolibrary.org/obo/MONDO_0007565 familial cylindromatosis 'familial cylindromatosis' SubClassOf 'Brooke-Spiegler syndrome' http://purl.obolibrary.org/obo/MONDO_0020521 Ehlers-Danlos syndrome type 7A 'Ehlers-Danlos syndrome type 7A' SubClassOf 'Ehlers-Danlos syndrome, arthrochalasis type' http://purl.obolibrary.org/obo/MONDO_0007566 multiple self-healing squamous epithelioma 'multiple self-healing squamous epithelioma' SubClassOf 'disease has feature' some 'keratoacanthoma' 'multiple self-healing squamous epithelioma' SubClassOf 'hereditary neoplastic syndrome' 'multiple self-healing squamous epithelioma' SubClassOf 'disease has feature' some 'benign tumor of palpebral epidermis' http://purl.obolibrary.org/obo/MONDO_0007561 multiple epiphyseal dysplasia type 1 'multiple epiphyseal dysplasia type 1' SubClassOf 'multiple epiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0007562 multiple epiphyseal dysplasia, Beighton type 'multiple epiphyseal dysplasia, Beighton type' SubClassOf 'multiple epiphyseal dysplasia' 'multiple epiphyseal dysplasia, Beighton type' SubClassOf 'hereditary disorder of connective tissue' 'multiple epiphyseal dysplasia, Beighton type' SubClassOf 'type 2 collagenopathy' http://purl.obolibrary.org/obo/MONDO_0020525 transient neonatal diabetes mellitus 'transient neonatal diabetes mellitus' SubClassOf 'neonatal diabetes mellitus' http://purl.obolibrary.org/obo/MONDO_0020524 primary parathyroid hyperplasia 'primary parathyroid hyperplasia' SubClassOf 'familial primary hyperparathyroidism' http://purl.obolibrary.org/obo/MONDO_0019549 severe early-onset axonal neuropathy due to MFN2 deficiency 'severe early-onset axonal neuropathy due to MFN2 deficiency' SubClassOf 'autosomal recessive axonal hereditary motor and sensory neuropathy' http://purl.obolibrary.org/obo/MONDO_0020523 familial parathyroid adenoma 'familial parathyroid adenoma' EquivalentTo 'parathyroid adenoma' and ('has modifier' some 'inherited') 'familial parathyroid adenoma' SubClassOf 'inborn errors of metabolism' 'familial parathyroid adenoma' SubClassOf 'parathyroid adenoma' http://purl.obolibrary.org/obo/MONDO_0019548 autosomal dominant intermediate Charcot-Marie-Tooth disease 'autosomal dominant intermediate Charcot-Marie-Tooth disease' SubClassOf 'autosomal dominant disease' 'autosomal dominant intermediate Charcot-Marie-Tooth disease' SubClassOf 'intermediate Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0020522 Ehlers-Danlos syndrome type 7B 'Ehlers-Danlos syndrome type 7B' SubClassOf 'Ehlers-Danlos syndrome, arthrochalasis type' http://purl.obolibrary.org/obo/MONDO_0007574 spinocerebellar ataxia type 34 'spinocerebellar ataxia type 34' SubClassOf 'genetic skin disease' 'spinocerebellar ataxia type 34' SubClassOf 'erythrokeratoderma' 'spinocerebellar ataxia type 34' SubClassOf 'autosomal dominant cerebellar ataxia type I' http://purl.obolibrary.org/obo/MONDO_0007570 erythema palmare hereditarium 'erythema palmare hereditarium' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0007571 primary erythermalgia 'primary erythermalgia' SubClassOf 'erythromelalgia' http://purl.obolibrary.org/obo/MONDO_0020558 autosomal dominant Charcot-Marie-Tooth disease type 2K 'autosomal dominant Charcot-Marie-Tooth disease type 2K' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://purl.obolibrary.org/obo/MONDO_0019557 chilblain lupus 'chilblain lupus' SubClassOf 'chronic cutaneous lupus erythematosus' 'chilblain lupus' SubClassOf 'autoimmune disorder of cardiovascular system' 'chilblain lupus' SubClassOf 'skin vascular disease' http://purl.obolibrary.org/obo/MONDO_0019550 hereditary motor and sensory neuropathy with acrodystrophy 'hereditary motor and sensory neuropathy with acrodystrophy' SubClassOf 'autosomal recessive axonal hereditary motor and sensory neuropathy' http://purl.obolibrary.org/obo/MONDO_0019551 hereditary motor and sensory neuropathy type 6 'hereditary motor and sensory neuropathy type 6' SubClassOf 'axonal hereditary motor and sensory neuropathy' http://purl.obolibrary.org/obo/MONDO_0019570 Cockayne syndrome type 2 'Cockayne syndrome type 2' SubClassOf 'Cockayne syndrome' http://purl.obolibrary.org/obo/MONDO_0007584 exostoses-anetodermia-brachydactyly type E syndrome 'exostoses-anetodermia-brachydactyly type E syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007590 hemifacial hypertrophy 'hemifacial hypertrophy' SubClassOf 'overgrowth syndrome' http://purl.obolibrary.org/obo/MONDO_0019569 Cockayne syndrome type 1 'Cockayne syndrome type 1' SubClassOf 'Cockayne syndrome' http://purl.obolibrary.org/obo/MONDO_0019568 Ehlers-Danlos syndrome, classic type, 2 'Ehlers-Danlos syndrome, classic type, 2' SubClassOf 'Ehlers-Danlos syndrome, classic type' http://purl.obolibrary.org/obo/MONDO_0019565 hereditary von Willebrand disease 'hereditary von Willebrand disease' SubClassOf 'hemorrhagic disease' 'hereditary von Willebrand disease' SubClassOf 'von Willebrand disease (hereditary or acquired)' 'hereditary von Willebrand disease' SubClassOf 'inherited blood coagulation disorder' 'hereditary von Willebrand disease' EquivalentTo 'von Willebrand disease (hereditary or acquired)' and ('has modifier' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0019567 Ehlers-Danlos syndrome, classic type, 1 'Ehlers-Danlos syndrome, classic type, 1' SubClassOf 'Ehlers-Danlos syndrome, classic type' http://purl.obolibrary.org/obo/MONDO_0007592 familial recurrent peripheral facial palsy 'familial recurrent peripheral facial palsy' SubClassOf 'genetic peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0019575 hypotrichosis simplex of the scalp 'hypotrichosis simplex of the scalp' SubClassOf 'alopecia' http://purl.obolibrary.org/obo/MONDO_0019577 anonychia-onychodystrophy syndrome 'anonychia-onychodystrophy syndrome' SubClassOf 'isolated congenital anonychia' http://purl.obolibrary.org/obo/MONDO_0019572 autosomal recessive cutis laxa type 1 'autosomal recessive cutis laxa type 1' SubClassOf 'inherited cutis laxa' 'autosomal recessive cutis laxa type 1' SubClassOf 'autosomal recessive disease' 'autosomal recessive cutis laxa type 1' SubClassOf 'vascular disease' http://purl.obolibrary.org/obo/MONDO_0019571 autosomal dominant cutis laxa 'autosomal dominant cutis laxa' SubClassOf 'inherited cutis laxa' 'autosomal dominant cutis laxa' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0019573 autosomal recessive cutis laxa type 2 'autosomal recessive cutis laxa type 2' SubClassOf 'autosomal recessive disease' 'autosomal recessive cutis laxa type 2' SubClassOf 'inherited cutis laxa' 'autosomal recessive cutis laxa type 2' SubClassOf 'inborn disorder of proline metabolism' 'autosomal recessive cutis laxa type 2' SubClassOf 'primary bone dysplasia' 'autosomal recessive cutis laxa type 2' SubClassOf 'developmental anomaly of metabolic origin' http://purl.obolibrary.org/obo/MONDO_0019591 panhypopituitarism 'panhypopituitarism' SubClassOf 'combined pituitary hormone deficiencies, genetic form' http://purl.obolibrary.org/obo/MONDO_0020569 intermediate DEND syndrome 'intermediate DEND syndrome' SubClassOf 'DEND syndrome' http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic hearing loss 'syndromic genetic hearing loss' EquivalentTo 'hearing loss' and ('has modifier' some 'has a syndromic presentation') and ('has modifier' some 'inherited') 'syndromic genetic hearing loss' SubClassOf 'developmental defect during embryogenesis' 'syndromic genetic hearing loss' SubClassOf 'hearing loss' 'syndromic genetic hearing loss' SubClassOf 'syndromic disease' 'syndromic genetic hearing loss' SubClassOf 'inherited auditory system disease' http://purl.obolibrary.org/obo/MONDO_0019597 46,XY disorder of sex development due to isolated 17,20-lyase deficiency '46,XY disorder of sex development due to isolated 17,20-lyase deficiency' SubClassOf 'congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' http://purl.obolibrary.org/obo/MONDO_0019599 primary lipodystrophy 'primary lipodystrophy' SubClassOf 'has modifier' some 'rare' 'primary lipodystrophy' SubClassOf 'subcutaneous tissue disorder' http://purl.obolibrary.org/obo/MONDO_0019593 46,XX disorder of sex development induced by fetal androgens excess '46,XX disorder of sex development induced by fetal androgens excess' SubClassOf '46,XX disorder of sex development induced by androgens excess' '46,XX disorder of sex development induced by fetal androgens excess' SubClassOf 'has modifier' some 'rare' '46,XX disorder of sex development induced by fetal androgens excess' SubClassOf 'female reproductive system disease' http://purl.obolibrary.org/obo/MONDO_0007409 cryptomicrotia-brachydactyly-excess fingertip arch syndrome 'cryptomicrotia-brachydactyly-excess fingertip arch syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007404 Cri-du-chat syndrome 'Cri-du-chat syndrome' SubClassOf 'neuro-ophthalmological disease' 'Cri-du-chat syndrome' SubClassOf 'partial deletion of the short arm of chromosome 5' 'Cri-du-chat syndrome' SubClassOf 'syndromic epicanthus' http://purl.obolibrary.org/obo/MONDO_0007405 Crouzon syndrome 'Crouzon syndrome' SubClassOf 'syndromic craniosynostosis' 'Crouzon syndrome' SubClassOf 'neuro-ophthalmological disease' http://purl.obolibrary.org/obo/MONDO_0007403 inherited Creutzfeldt-Jakob disease 'inherited Creutzfeldt-Jakob disease' SubClassOf 'disease arises from feature' some 'neurodegenerative disease' 'inherited Creutzfeldt-Jakob disease' SubClassOf 'Creutzfeldt Jacob Disease' 'inherited Creutzfeldt-Jakob disease' SubClassOf 'movement disorder' 'inherited Creutzfeldt-Jakob disease' SubClassOf 'inherited prion disease' 'inherited Creutzfeldt-Jakob disease' EquivalentTo 'Creutzfeldt Jacob Disease' and ('has modifier' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0007400 Jackson-Weiss syndrome 'Jackson-Weiss syndrome' SubClassOf 'acrocephalosyndactyly' http://purl.obolibrary.org/obo/MONDO_0007401 craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome 'craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome' SubClassOf 'central nervous system malformation' 'craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome' SubClassOf 'genetic nervous system disorder' 'craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome' SubClassOf 'brain disease' 'craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome' SubClassOf 'familial scaphocephaly syndrome' http://purl.obolibrary.org/obo/MONDO_0007417 Darier disease 'Darier disease' SubClassOf 'genetic skin disease' 'Darier disease' SubClassOf 'epidermal disease' http://purl.obolibrary.org/obo/MONDO_0007413 Cyprus facial-neuromusculoskeletal syndrome 'Cyprus facial-neuromusculoskeletal syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Cyprus facial-neuromusculoskeletal syndrome' SubClassOf 'skeletal muscle disorder' http://purl.obolibrary.org/obo/MONDO_0007414 Gorham-Stout disease 'Gorham-Stout disease' SubClassOf 'bone benign neoplasm' 'Gorham-Stout disease' SubClassOf 'disappearing bone disease' 'Gorham-Stout disease' SubClassOf 'congenital vascular bone syndrome' 'Gorham-Stout disease' SubClassOf 'vascular bone neoplasm' 'Gorham-Stout disease' SubClassOf 'lymphangioma' 'Gorham-Stout disease' SubClassOf 'rheumatic disease' http://purl.obolibrary.org/obo/MONDO_0007412 Beare-Stevenson cutis gyrata syndrome 'Beare-Stevenson cutis gyrata syndrome' SubClassOf 'syndromic craniosynostosis' 'Beare-Stevenson cutis gyrata syndrome' SubClassOf 'dermis disorder' 'Beare-Stevenson cutis gyrata syndrome' SubClassOf 'genetic skin disease' 'Beare-Stevenson cutis gyrata syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Beare-Stevenson cutis gyrata syndrome' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0007410 isolated cryptophthalmia 'isolated cryptophthalmia' SubClassOf 'non-syndromic developmental defect of the eye' 'isolated cryptophthalmia' SubClassOf 'cryptophthalmia' 'isolated cryptophthalmia' EquivalentTo 'cryptophthalmia' and ('has modifier' some 'has an isolated presentation') http://purl.obolibrary.org/obo/MONDO_0007428 deafness-craniofacial syndrome 'deafness-craniofacial syndrome' SubClassOf 'syndromic genetic hearing loss' 'deafness-craniofacial syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'deafness-craniofacial syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0007422 keratoderma hereditarium mutilans 'keratoderma hereditarium mutilans' SubClassOf 'autosomal dominant diffuse mutilating palmoplantar keratoderma' 'keratoderma hereditarium mutilans' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0007420 autosomal dominant deafness - onychodystrophy syndrome 'autosomal dominant deafness - onychodystrophy syndrome' SubClassOf 'deafness-onychodystrophy syndrome' 'autosomal dominant deafness - onychodystrophy syndrome' SubClassOf 'intellectual disability, autosomal dominant' http://purl.obolibrary.org/obo/MONDO_0007421 deafness-ear malformation-facial palsy syndrome 'deafness-ear malformation-facial palsy syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0019408 Astley-Kendall dysplasia 'Astley-Kendall dysplasia' SubClassOf 'chondrodysplasia punctata' http://purl.obolibrary.org/obo/MONDO_0019407 microcephalic osteodysplastic dysplasia, Saul-Wilson type 'microcephalic osteodysplastic dysplasia, Saul-Wilson type' SubClassOf 'microcephalic primordial dwarfism' 'microcephalic osteodysplastic dysplasia, Saul-Wilson type' SubClassOf 'intellectual disability, autosomal dominant' http://purl.obolibrary.org/obo/MONDO_0019409 idiopathic juvenile osteoporosis 'idiopathic juvenile osteoporosis' SubClassOf 'idiopathic disease' 'idiopathic juvenile osteoporosis' SubClassOf 'rheumatic disease' 'idiopathic juvenile osteoporosis' SubClassOf 'osteoporosis' 'idiopathic juvenile osteoporosis' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0019403 congenital dyserythropoietic anemia 'congenital dyserythropoietic anemia' SubClassOf 'familial hemolytic anemia' 'congenital dyserythropoietic anemia' SubClassOf 'constitutional dyserythropoietic anemia' http://purl.obolibrary.org/obo/MONDO_0019406 craniofacial conodysplasia 'craniofacial conodysplasia' SubClassOf 'acromelic dysplasia' http://purl.obolibrary.org/obo/MONDO_0019405 facial onset sensory and motor neuronopathy 'facial onset sensory and motor neuronopathy' SubClassOf 'inherited neurodegenerative disorder' http://purl.obolibrary.org/obo/MONDO_0019402 beta thalassemia 'beta thalassemia' SubClassOf 'Thalassemia' 'beta thalassemia' SubClassOf 'pituitary hormone deficiency secondary to storage disease' 'beta thalassemia' SubClassOf 'beta-thalassemia and related diseases' 'beta thalassemia' SubClassOf 'kidney disease' http://purl.obolibrary.org/obo/MONDO_0019401 sporadic idiopathic steroid-resistant nephrotic syndrome 'sporadic idiopathic steroid-resistant nephrotic syndrome' SubClassOf 'steroid-resistant nephrotic syndrome' 'sporadic idiopathic steroid-resistant nephrotic syndrome' SubClassOf 'idiopathic nephrotic syndrome' http://purl.obolibrary.org/obo/MONDO_0007437 dentin dysplasia type II 'dentin dysplasia type II' SubClassOf 'dentin dysplasia' 'dentin dysplasia type II' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007438 dentin dysplasia-sclerotic bones syndrome 'dentin dysplasia-sclerotic bones syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007435 dentatorubral-pallidoluysian atrophy 'dentatorubral-pallidoluysian atrophy' SubClassOf 'Huntington disease-like syndrome' 'dentatorubral-pallidoluysian atrophy' SubClassOf 'autosomal dominant cerebellar ataxia type IV' http://purl.obolibrary.org/obo/MONDO_0007436 dentin dysplasia type I 'dentin dysplasia type I' SubClassOf 'dentin dysplasia' 'dentin dysplasia type I' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007434 primary failure of tooth eruption 'primary failure of tooth eruption' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007432 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 'cerebral arteriopathy with subcortical infarcts and leukoencephalopathy' SubClassOf 'cerebral small vessel disease' 'cerebral arteriopathy with subcortical infarcts and leukoencephalopathy' SubClassOf 'genetic dementia' 'cerebral arteriopathy with subcortical infarcts and leukoencephalopathy' SubClassOf 'neuro-ophthalmological disease' 'cerebral arteriopathy with subcortical infarcts and leukoencephalopathy' SubClassOf 'cerebrovascular dementia' 'cerebral arteriopathy with subcortical infarcts and leukoencephalopathy' SubClassOf 'syndromic 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' 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 'congenital nervous system disorder' 'X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019414 BRESEK syndrome 'BRESEK syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'BRESEK syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'BRESEK syndrome' SubClassOf 'congenital nervous system disorder' 'BRESEK 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' 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 'genetic multiple congenital anomalies/dysmorphic 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 'congenital nervous system disorder' 'X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019411 genochondromatosis type 1 'genochondromatosis type 1' SubClassOf 'genochondromatosis' http://purl.obolibrary.org/obo/MONDO_0019413 ischio-vertebral syndrome 'ischio-vertebral syndrome' SubClassOf 'dysostosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0019412 dysspondyloenchondromatosis 'dysspondyloenchondromatosis' SubClassOf 'primary bone dysplasia' http://purl.obolibrary.org/obo/MONDO_0007449 dermo-odonto dysplasia 'dermo-odonto dysplasia' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0007445 dermatopathia pigmentosa reticularis 'dermatopathia pigmentosa reticularis' SubClassOf 'hyperpigmentation of the skin' 'dermatopathia pigmentosa reticularis' SubClassOf 'diffuse palmoplantar keratoderma' 'dermatopathia pigmentosa reticularis' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0007442 dentinogenesis imperfecta type 3 'dentinogenesis imperfecta type 3' SubClassOf 'genetic disorder' 'dentinogenesis imperfecta type 3' SubClassOf 'dentinogenesis imperfecta' http://purl.obolibrary.org/obo/MONDO_0007443 congenital unilateral hypoplasia of depressor anguli oris 'congenital unilateral hypoplasia of depressor anguli oris' SubClassOf '22q11.2 deletion syndrome' http://purl.obolibrary.org/obo/MONDO_0007441 dentinogenesis imperfecta type 2 'dentinogenesis imperfecta type 2' SubClassOf 'genetic disorder' 'dentinogenesis imperfecta type 2' SubClassOf 'dentinogenesis imperfecta' http://purl.obolibrary.org/obo/MONDO_0019429 X-linked neurodegenerative syndrome, Hamel type 'X-linked neurodegenerative syndrome, Hamel type' SubClassOf 'inherited neurodegenerative disorder' 'X-linked neurodegenerative syndrome, Hamel type' 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 'disorder of development or morphogenesis' 'X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019425 obsolete X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome 'obsolete X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019428 fried syndrome 'fried syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'fried syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'fried syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'fried syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0019427 X-linked neurodegenerative syndrome, Bertini type 'X-linked neurodegenerative syndrome, Bertini type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked neurodegenerative syndrome, Bertini type' SubClassOf 'inherited neurodegenerative disorder' 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 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability, Stevenson type' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'X-linked intellectual disability, Stevenson type' SubClassOf 'congenital nervous system disorder' 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' 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' http://purl.obolibrary.org/obo/MONDO_0019423 X-linked intellectual disability, Stoll type 'X-linked intellectual disability, Stoll type' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability, Stoll type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Stoll type' SubClassOf 'congenital nervous system disorder' 'X-linked intellectual disability, Stoll type' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0019420 X-linked intellectual disability, Pai type 'X-linked intellectual disability, Pai type' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'X-linked intellectual disability, Pai type' SubClassOf 'congenital nervous system disorder' 'X-linked intellectual disability, Pai type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Pai type' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007451 diabetes insipidus, nephrogenic, autosomal 'diabetes insipidus, nephrogenic, autosomal' SubClassOf 'nephrogenic diabetes insipidus' http://purl.obolibrary.org/obo/MONDO_0007450 neurohypophyseal diabetes insipidus 'neurohypophyseal diabetes insipidus' SubClassOf 'genetic nervous system disorder' 'neurohypophyseal diabetes insipidus' SubClassOf 'autosomal dominant disease' 'neurohypophyseal diabetes insipidus' SubClassOf 'pituitary gland disease' 'neurohypophyseal diabetes insipidus' SubClassOf 'diabetes insipidus' 'neurohypophyseal diabetes insipidus' SubClassOf 'pituitary deficiency' http://purl.obolibrary.org/obo/MONDO_0020437 atrial septal defect, ostium primum type 'atrial septal defect, ostium primum type' SubClassOf 'atrial heart septal defect' http://purl.obolibrary.org/obo/MONDO_0020436 atrial septal defect, sinus venosus type 'atrial septal defect, sinus venosus type' SubClassOf 'atrial heart septal defect' http://purl.obolibrary.org/obo/MONDO_0020435 atrial septal defect, coronary sinus type 'atrial septal defect, coronary sinus type' SubClassOf 'atrial heart septal defect' 'atrial septal defect, coronary sinus type' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0019438 AL amyloidosis 'AL amyloidosis' SubClassOf 'amyloidosis' 'AL amyloidosis' SubClassOf 'Non-familial restrictive cardiomyopathy' 'AL amyloidosis' SubClassOf 'acquired amyloid peripheral neuropathy' 'AL amyloidosis' SubClassOf 'secondary glomerular disease' 'AL amyloidosis' SubClassOf 'non-familial hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0020434 atrial septal defect, ostium secundum type 'atrial septal defect, ostium secundum type' SubClassOf 'atrial heart septal defect' 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 cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0007461 short stature-valvular heart disease-characteristic facies syndrome 'short stature-valvular heart disease-characteristic facies syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007470 calvarial doughnut lesions-bone fragility syndrome 'calvarial doughnut lesions-bone fragility syndrome' SubClassOf 'primary bone dysplasia' http://purl.obolibrary.org/obo/MONDO_0020428 congenital Gerbode defect 'congenital Gerbode defect' SubClassOf 'has modifier' some 'congenital' 'congenital Gerbode defect' SubClassOf 'congenital heart malformation' http://purl.obolibrary.org/obo/MONDO_0020427 Laubry-Pezzi syndrome 'Laubry-Pezzi syndrome' SubClassOf 'congenital anomaly of ventricular septum' 'Laubry-Pezzi syndrome' SubClassOf 'has modifier' some 'has an isolated presentation' http://purl.obolibrary.org/obo/MONDO_0019448 benign adult familial myoclonic epilepsy 'benign adult familial myoclonic epilepsy' SubClassOf 'epilepsy, familial adult myoclonic' 'benign adult familial myoclonic epilepsy' SubClassOf 'primary myoclonus' 'benign adult familial myoclonic epilepsy' SubClassOf 'adolescent-onset epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0019449 lissencephaly type 3-familial fetal akinesia sequence syndrome 'lissencephaly type 3-familial fetal akinesia sequence syndrome' SubClassOf 'lissencephaly type 3' http://purl.obolibrary.org/obo/MONDO_0019443 dextro-looped transposition of the great arteries 'dextro-looped transposition of the great arteries' SubClassOf 'transposition of the great arteries' 'dextro-looped transposition of the great arteries' SubClassOf 'congenital heart disease' 'dextro-looped transposition of the great arteries' SubClassOf 'genetic cardiac anomaly' http://purl.obolibrary.org/obo/MONDO_0019441 ATTRV122I amyloidosis 'ATTRV122I amyloidosis' SubClassOf 'familial restrictive cardiomyopathy' 'ATTRV122I amyloidosis' SubClassOf 'familial amyloid neuropathy' http://purl.obolibrary.org/obo/MONDO_0007477 3-M syndrome '3-M syndrome' SubClassOf 'slender bone dysplasia' '3-M syndrome' SubClassOf 'autosomal recessive disease' '3-M syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007478 autosomal dominant Kenny-Caffey syndrome 'autosomal dominant Kenny-Caffey syndrome' SubClassOf 'Kenny-Caffey syndrome' 'autosomal dominant Kenny-Caffey syndrome' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0007476 familial Dupuytren contracture 'familial Dupuytren contracture' SubClassOf 'skin neoplasm' 'familial Dupuytren contracture' SubClassOf 'Superficial Fibromatosis' http://purl.obolibrary.org/obo/MONDO_0007473 Duane retraction syndrome 'Duane retraction syndrome' SubClassOf 'syndromic disease' 'Duane retraction syndrome' SubClassOf 'cranial nerve and nuclear aplasia' 'Duane retraction syndrome' SubClassOf 'nuclear oculomotor paralysis' http://purl.obolibrary.org/obo/MONDO_0007471 Doyne honeycomb retinal dystrophy 'Doyne honeycomb retinal dystrophy' SubClassOf 'retinal drusen' 'Doyne honeycomb retinal dystrophy' SubClassOf 'familial flecked retinopathy' 'Doyne honeycomb retinal dystrophy' SubClassOf 'disease predisposing to age-related macular degeneration' http://purl.obolibrary.org/obo/MONDO_0007481 Leri-Weill dyschondrosteosis 'Leri-Weill dyschondrosteosis' SubClassOf 'osteochondrodysplasia' 'Leri-Weill dyschondrosteosis' SubClassOf 'mesomelic and rhizo-mesomelic dysplasia' http://purl.obolibrary.org/obo/MONDO_0020458 hemolytic anemia due to erythrocyte adenosine deaminase overproduction 'hemolytic anemia due to erythrocyte adenosine deaminase overproduction' SubClassOf 'inborn disorder of purine metabolism' 'hemolytic anemia due to erythrocyte adenosine deaminase overproduction' SubClassOf 'familial hemolytic anemia' 'hemolytic anemia due to erythrocyte adenosine deaminase overproduction' SubClassOf 'anemia due to enzyme disorder' http://purl.obolibrary.org/obo/MONDO_0020457 6-phosphogluconate dehydrogenase deficiency '6-phosphogluconate dehydrogenase deficiency' SubClassOf 'normocytic anemia' http://purl.obolibrary.org/obo/MONDO_0019450 lissencephaly with cerebellar hypoplasia 'lissencephaly with cerebellar hypoplasia' SubClassOf 'lissencephaly spectrum disorders' http://purl.obolibrary.org/obo/MONDO_0007489 dysplasia epiphysealis hemimelica 'dysplasia epiphysealis hemimelica' SubClassOf 'primary bone dysplasia' http://purl.obolibrary.org/obo/MONDO_0007486 hereditary benign intraepithelial dyskeratosis 'hereditary benign intraepithelial dyskeratosis' SubClassOf 'syndromic corneal dystrophy' 'hereditary benign intraepithelial dyskeratosis' SubClassOf 'superficial corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0007482 dyschondrosteosis-nephritis syndrome 'dyschondrosteosis-nephritis syndrome' SubClassOf 'mesomelic and rhizo-mesomelic dysplasia' 'dyschondrosteosis-nephritis syndrome' SubClassOf 'syndromic renal or urinary tract malformation' 'dyschondrosteosis-nephritis syndrome' SubClassOf 'syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0007483 dyschromatosis symmetrica hereditaria 'dyschromatosis symmetrica hereditaria' SubClassOf 'hyperpigmentation of the skin' 'dyschromatosis symmetrica hereditaria' SubClassOf 'reticulate pigment disorder' http://purl.obolibrary.org/obo/MONDO_0007492 early-onset generalized limb-onset dystonia 'early-onset generalized limb-onset dystonia' SubClassOf 'early-onset generalized dystonia' http://purl.obolibrary.org/obo/MONDO_0007490 carpotarsal osteochondromatosis 'carpotarsal osteochondromatosis' SubClassOf 'primary bone dysplasia' http://purl.obolibrary.org/obo/MONDO_0020477 progeria-associated arthropathy 'progeria-associated arthropathy' SubClassOf 'rheumatic disease' 'progeria-associated arthropathy' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0020476 mesial temporal lobe epilepsy with hippocampal sclerosis 'mesial temporal lobe epilepsy with hippocampal sclerosis' SubClassOf 'familial partial epilepsy' http://purl.obolibrary.org/obo/MONDO_0020475 dermotrichic syndrome 'dermotrichic syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0020474 cheirospondyloenchondromatosis 'cheirospondyloenchondromatosis' SubClassOf 'primary bone dysplasia' http://purl.obolibrary.org/obo/MONDO_0007495 dystonia 5 'dystonia 5' SubClassOf 'dopa-responsive dystonia' 'dystonia 5' SubClassOf 'cerebral organic aciduria' 'dystonia 5' SubClassOf 'disorder of pterin metabolism' 'dystonia 5' SubClassOf 'GTP cyclohydrolase I deficiency' http://purl.obolibrary.org/obo/MONDO_0020473 dappled diaphyseal dysplasia 'dappled diaphyseal dysplasia' SubClassOf 'chondrodysplasia punctata' http://purl.obolibrary.org/obo/MONDO_0007496 dystonia 12 'dystonia 12' SubClassOf 'persistent combined dystonia' 'dystonia 12' SubClassOf 'parkinsonian disorder' 'dystonia 12' SubClassOf 'ATP1A3-associated neurological disorder' http://purl.obolibrary.org/obo/MONDO_0020472 Turner syndrome due to structural X chromosome anomalies 'Turner syndrome due to structural X chromosome anomalies' SubClassOf 'Turner syndrome' http://purl.obolibrary.org/obo/MONDO_0007493 torsion dystonia 4 'torsion dystonia 4' SubClassOf 'focal, segmental or multifocal dystonia' http://purl.obolibrary.org/obo/MONDO_0020470 49,XYYYY syndrome '49,XYYYY syndrome' SubClassOf 'pentasomy' '49,XYYYY syndrome' SubClassOf 'chromosome Y disorder' '49,XYYYY syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0020478 Leber plus disease 'Leber plus disease' SubClassOf 'hereditary optic neuropathy' 'Leber plus disease' SubClassOf 'mitochondrial oxidative phosphorylation disorder' 'Leber plus disease' SubClassOf 'familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0019490 progressive familial heart block 'progressive familial heart block' SubClassOf 'heart conduction disease' 'progressive familial heart block' SubClassOf 'genetic cardiac rhythm disease' http://purl.obolibrary.org/obo/MONDO_0020466 monosomy X 'monosomy X' SubClassOf 'monosomy' 'monosomy X' SubClassOf 'Turner syndrome' 'monosomy X' SubClassOf 'chromosome X disorder' http://purl.obolibrary.org/obo/MONDO_0020465 congenital eyelid retraction 'congenital eyelid retraction' SubClassOf 'eyelid disease' http://purl.obolibrary.org/obo/MONDO_0020464 euryblepharon 'euryblepharon' SubClassOf 'congenital ectropion' http://purl.obolibrary.org/obo/MONDO_0020463 isolated congenital ectropion 'isolated congenital ectropion' SubClassOf 'congenital ectropion' 'isolated congenital ectropion' SubClassOf 'has modifier' some 'has an isolated presentation' 'isolated congenital ectropion' EquivalentTo 'congenital ectropion' and ('has modifier' some 'has an isolated presentation') http://purl.obolibrary.org/obo/MONDO_0020462 tarsal kink syndrome 'tarsal kink syndrome' SubClassOf 'congenital entropion' http://purl.obolibrary.org/obo/MONDO_0020461 epiblepharon 'epiblepharon' SubClassOf 'eyelids malposition disorder' http://purl.obolibrary.org/obo/MONDO_0020469 48,XYYY syndrome '48,XYYY syndrome' SubClassOf 'genetic nervous system disorder' '48,XYYY syndrome' SubClassOf 'syndromic intellectual disability' '48,XYYY syndrome' SubClassOf 'male infertility' '48,XYYY syndrome' SubClassOf 'genetic infertility' '48,XYYY syndrome' SubClassOf 'tetrasomy' '48,XYYY syndrome' SubClassOf 'chromosome Y disorder' '48,XYYY syndrome' SubClassOf 'syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0020468 paternal uniparental disomy of chromosome 13 'paternal uniparental disomy of chromosome 13' SubClassOf 'chromosome 13 disorder' 'paternal uniparental disomy of chromosome 13' SubClassOf 'uniparental disomy' http://purl.obolibrary.org/obo/MONDO_0020467 mosaic monosomy X 'mosaic monosomy X' SubClassOf 'monosomy X' 'mosaic monosomy X' SubClassOf 'has modifier' some 'mosaic' http://purl.obolibrary.org/obo/MONDO_0019488 myoclonic epilepsy in non-progressive encephalopathies 'myoclonic epilepsy in non-progressive encephalopathies' SubClassOf 'infantile epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0019489 diffuse palmoplantar keratoderma - acrocyanosis syndrome 'diffuse palmoplantar keratoderma - acrocyanosis syndrome' SubClassOf 'diffuse palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0019484 hypothalamic hamartomas with gelastic seizures 'hypothalamic hamartomas with gelastic seizures' SubClassOf 'cerebral malformation' http://purl.obolibrary.org/obo/MONDO_0019486 myoclonic epilepsy of infancy 'myoclonic epilepsy of infancy' SubClassOf 'neonatal/infantile epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0020491 subcortical band heterotopia 'subcortical band heterotopia' SubClassOf 'congenital nervous system disorder' 'subcortical band heterotopia' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0020490 mosaic trisomy 9 'mosaic trisomy 9' SubClassOf 'chromosome 9 disorder' 'mosaic trisomy 9' SubClassOf 'trisomy' 'mosaic trisomy 9' SubClassOf 'total autosomal trisomy' 'mosaic trisomy 9' SubClassOf 'has modifier' some 'mosaic' http://purl.obolibrary.org/obo/MONDO_0020497 Turcot syndrome with polyposis 'Turcot syndrome with polyposis' SubClassOf 'classic familial adenomatous polyposis' 'Turcot syndrome with polyposis' SubClassOf 'inherited nervous system cancer-predisposing syndrome' 'Turcot syndrome with polyposis' SubClassOf 'genetic nervous system disorder' 'Turcot syndrome with polyposis' SubClassOf 'nervous system neoplasm' http://purl.obolibrary.org/obo/MONDO_0020496 familial porencephaly 'familial porencephaly' EquivalentTo 'porencephaly' and ('has modifier' some 'inherited') 'familial porencephaly' SubClassOf 'COL4A1 or COL4A2-related cerebral small vessel disease' 'familial porencephaly' SubClassOf 'porencephaly' http://purl.obolibrary.org/obo/MONDO_0020495 peho-like syndrome 'peho-like syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0020494 oculootodental syndrome 'oculootodental syndrome' SubClassOf 'partial deletion of the long arm of chromosome 11' http://purl.obolibrary.org/obo/MONDO_0020493 Haddad syndrome 'Haddad syndrome' SubClassOf 'congenital central hypoventilation syndrome' 'Haddad syndrome' SubClassOf 'intestinal motility disease' http://purl.obolibrary.org/obo/MONDO_0020492 hemimegalencephaly 'hemimegalencephaly' SubClassOf 'overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes' 'hemimegalencephaly' SubClassOf 'cerebral malformation' http://purl.obolibrary.org/obo/MONDO_0019499 Turner syndrome 'Turner syndrome' SubClassOf 'syndromic urogenital tract malformation' 'Turner syndrome' SubClassOf 'female infertility' 'Turner syndrome' SubClassOf 'syndromic renal or urinary tract malformation' 'Turner syndrome' SubClassOf 'genetic infertility' 'Turner syndrome' SubClassOf 'gonadal dysgenesis' 'Turner syndrome' SubClassOf 'inherited primary ovarian failure' 'Turner syndrome' SubClassOf 'syndromic epicanthus' 'Turner syndrome' SubClassOf 'sex chromosome disorder of sex development' http://purl.obolibrary.org/obo/MONDO_0019497 nonsyndromic genetic hearing loss 'nonsyndromic genetic hearing loss' SubClassOf 'hearing loss' 'nonsyndromic genetic hearing loss' SubClassOf 'has modifier' some 'has an isolated presentation' 'nonsyndromic genetic hearing loss' SubClassOf 'inherited auditory system disease' 'nonsyndromic genetic hearing loss' EquivalentTo 'hearing loss' and ('has modifier' some 'has an isolated presentation') and ('has modifier' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0020480 sulfite oxidase deficiency due to molybdenum cofactor deficiency 'sulfite oxidase deficiency due to molybdenum cofactor deficiency' SubClassOf 'inborn metal metabolism disorder' 'sulfite oxidase deficiency due to molybdenum cofactor deficiency' SubClassOf 'encephalopathy due to sulfite oxidase deficiency' 'sulfite oxidase deficiency due to molybdenum cofactor deficiency' SubClassOf 'disorder of other vitamins and cofactors metabolism and transport' http://purl.obolibrary.org/obo/MONDO_0020488 atypical progressive supranuclear palsy syndrome 'atypical progressive supranuclear palsy syndrome' SubClassOf 'progressive supranuclear palsy' http://purl.obolibrary.org/obo/MONDO_0020485 King-Denborough syndrome 'King-Denborough syndrome' SubClassOf 'disease shares features of' some 'Noonan syndrome' 'King-Denborough syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'King-Denborough syndrome' SubClassOf 'RYR1-related myopathy' http://purl.obolibrary.org/obo/MONDO_0020483 acetazolamide-responsive myotonia 'acetazolamide-responsive myotonia' SubClassOf 'potassium-aggravated myotonia' http://purl.obolibrary.org/obo/MONDO_0020482 myotonia permanens 'myotonia permanens' SubClassOf 'potassium-aggravated myotonia' http://purl.obolibrary.org/obo/MONDO_0020481 myotonia fluctuans 'myotonia fluctuans' SubClassOf 'potassium-aggravated myotonia' http://purl.obolibrary.org/obo/MONDO_0020489 familial hyperreninemic hypoaldosteronism type 1 'familial hyperreninemic hypoaldosteronism type 1' SubClassOf 'familial hypoaldosteronism' 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 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'urban-Rogers-Meyer syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009904 Gitelman syndrome 'Gitelman syndrome' SubClassOf 'renal tubular transport disease' 'Gitelman syndrome' SubClassOf 'syndromic disease' 'Gitelman syndrome' SubClassOf 'inherited renal tubular disease' http://purl.obolibrary.org/obo/MONDO_0009903 postaxial acrofacial dysostosis 'postaxial acrofacial dysostosis' SubClassOf 'branchial arch or oral-acral syndrome' 'postaxial acrofacial dysostosis' SubClassOf 'acrofacial dysostosis' 'postaxial acrofacial dysostosis' SubClassOf 'secondary ectropion' 'postaxial acrofacial dysostosis' SubClassOf 'syndromic palpebral coloboma' 'postaxial acrofacial dysostosis' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009902 cutaneous porphyria 'cutaneous porphyria' SubClassOf 'anemia due to erythrocyte enzyme disorder' 'cutaneous porphyria' SubClassOf 'inherited porphyria' 'cutaneous porphyria' SubClassOf 'familial hemolytic anemia' http://purl.obolibrary.org/obo/MONDO_0009901 Bartsocas-Papas syndrome 'Bartsocas-Papas syndrome' SubClassOf 'genetic lethal multiple congenital anomalies/dysmorphic syndrome' 'Bartsocas-Papas syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'Bartsocas-Papas syndrome' SubClassOf 'popliteal pterygium syndrome' http://purl.obolibrary.org/obo/MONDO_0009900 polysyndactyly-cardiac malformation syndrome 'polysyndactyly-cardiac malformation syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency 'pterin-4 alpha-carbinolamine dehydratase 1 deficiency' SubClassOf 'hyperphenylalaninemia due to tetrahydrobiopterin deficiency' http://purl.obolibrary.org/obo/MONDO_0009917 autosomal recessive pseudohypoaldosteronism type 1 'autosomal recessive pseudohypoaldosteronism type 1' SubClassOf 'pseudohypoaldosteronism type 1' http://purl.obolibrary.org/obo/MONDO_0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency '46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency' SubClassOf 'female infertility' '46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency' SubClassOf 'male infertility' '46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency' SubClassOf '46,XY disorder of sex development of endocrine origin' '46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency' SubClassOf 'has modifier' some 'rare' '46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency' SubClassOf 'genetic infertility' http://purl.obolibrary.org/obo/MONDO_0009915 46,XX disorder of sex development-skeletal anomalies syndrome '46,XX disorder of sex development-skeletal anomalies syndrome' SubClassOf '46,XX disorder of sex development' http://purl.obolibrary.org/obo/MONDO_0010908 loose anagen syndrome 'loose anagen syndrome' SubClassOf 'alopecia' 'loose anagen syndrome' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0009914 pseudodiastrophic dysplasia 'pseudodiastrophic dysplasia' SubClassOf 'developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0010907 familial hypertryptophanemia 'familial hypertryptophanemia' SubClassOf 'inborn disorder of tryptophan metabolism' http://purl.obolibrary.org/obo/MONDO_0009910 Wiedemann-Rautenstrauch syndrome 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'progeria' 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'congenital nervous system disorder' 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'genetic lipodystrophy' 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'syndromic intellectual disability' 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'developmental anomaly of metabolic origin' 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'secondary ectropion' 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0010902 spondyloepiphyseal dysplasia, Reardon type 'spondyloepiphyseal dysplasia, Reardon type' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0009919 peroxisomal acyl-CoA oxidase deficiency 'peroxisomal acyl-CoA oxidase deficiency' SubClassOf 'disorder of peroxisomal beta oxidation' http://purl.obolibrary.org/obo/MONDO_0009928 pulmonary alveolar microlithiasis 'pulmonary alveolar microlithiasis' SubClassOf 'has modifier' some 'rare' 'pulmonary alveolar microlithiasis' SubClassOf 'lung disease' 'pulmonary alveolar microlithiasis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009926 autosomal recessive multiple pterygium syndrome 'autosomal recessive multiple pterygium syndrome' SubClassOf 'multiple pterygium syndrome' 'autosomal recessive multiple pterygium syndrome' SubClassOf 'autosomal recessive disease' 'autosomal recessive multiple pterygium syndrome' SubClassOf 'syndromic disease' 'autosomal recessive multiple pterygium syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009925 autosomal recessive inherited pseudoxanthoma elasticum 'autosomal recessive inherited pseudoxanthoma elasticum' SubClassOf 'autosomal recessive disease' 'autosomal recessive inherited pseudoxanthoma elasticum' SubClassOf 'hereditary disorder of connective tissue' 'autosomal recessive inherited pseudoxanthoma elasticum' SubClassOf 'dermis elastic tissue disorder' 'autosomal recessive inherited pseudoxanthoma elasticum' SubClassOf 'genetic skin disease' 'autosomal recessive inherited pseudoxanthoma elasticum' SubClassOf 'genetic central nervous system and retinal vascular disease' 'autosomal recessive inherited pseudoxanthoma elasticum' SubClassOf 'inherited pseudoxanthoma elasticum' 'autosomal recessive inherited pseudoxanthoma elasticum' SubClassOf 'genetic hypertension' 'autosomal recessive inherited pseudoxanthoma elasticum' SubClassOf 'familial restrictive cardiomyopathy' 'autosomal recessive inherited pseudoxanthoma elasticum' SubClassOf 'developmental defect during embryogenesis' 'autosomal recessive inherited pseudoxanthoma elasticum' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0009924 vitamin D-dependent rickets, type 1 'vitamin D-dependent rickets, type 1' SubClassOf 'hypocalcemic rickets' 'vitamin D-dependent rickets, type 1' SubClassOf 'vitamin D-dependent rickets' http://purl.obolibrary.org/obo/MONDO_0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency '46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency' SubClassOf '46,XY disorder of sex development of endocrine origin' '46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency' SubClassOf 'inherited lipid metabolism disorder' '46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency' SubClassOf 'has modifier' some 'rare' '46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency' SubClassOf 'male infertility' '46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency' SubClassOf 'developmental anomaly of metabolic origin' '46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency' SubClassOf 'genetic infertility' 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 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'holoprosencephaly-postaxial polydactyly syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009920 Acrootoocular syndrome 'Acrootoocular syndrome' SubClassOf 'eyelids malposition disorder' http://purl.obolibrary.org/obo/MONDO_0010914 carnitine palmitoyl transferase II deficiency, severe infantile form 'carnitine palmitoyl transferase II deficiency, severe infantile form' SubClassOf 'carnitine palmitoyltransferase II deficiency' http://purl.obolibrary.org/obo/MONDO_0009929 neonatal acute respiratory distress due to SP-B deficiency 'neonatal acute respiratory distress due to SP-B deficiency' SubClassOf 'hereditary pulmonary alveolar proteinosis' http://purl.obolibrary.org/obo/MONDO_0009937 pulmonary venoocclusive disease 'pulmonary venoocclusive disease' SubClassOf 'Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis' 'pulmonary venoocclusive disease' SubClassOf 'heritable pulmonary arterial hypertension' http://purl.obolibrary.org/obo/MONDO_0009936 familial primary pulmonary hypoplasia 'familial primary pulmonary hypoplasia' SubClassOf 'non-syndromic respiratory or mediastinal malformation' 'familial primary pulmonary hypoplasia' SubClassOf 'respiratory malformation' http://purl.obolibrary.org/obo/MONDO_0009934 alveolar capillary dysplasia with misalignment of pulmonary veins 'alveolar capillary dysplasia with misalignment of pulmonary veins' SubClassOf 'congenital pulmonary veins anomaly' 'alveolar capillary dysplasia with misalignment of pulmonary veins' SubClassOf 'primary interstitial lung disease specific to childhood' http://purl.obolibrary.org/obo/MONDO_0009933 congenital pulmonary lymphangiectasia 'congenital pulmonary lymphangiectasia' SubClassOf 'primary lymphedema' 'congenital pulmonary lymphangiectasia' SubClassOf 'respiratory malformation' 'congenital pulmonary lymphangiectasia' SubClassOf 'has modifier' some 'congenital' 'congenital pulmonary lymphangiectasia' SubClassOf 'lymphangiectasis' 'congenital pulmonary lymphangiectasia' SubClassOf 'non-syndromic respiratory or mediastinal malformation' http://purl.obolibrary.org/obo/MONDO_0010924 D-2-hydroxyglutaric aciduria 'D-2-hydroxyglutaric aciduria' SubClassOf '2-hydroxyglutaric aciduria' http://purl.obolibrary.org/obo/MONDO_0010926 familial hypocalciuric hypercalcemia 3 'familial hypocalciuric hypercalcemia 3' SubClassOf 'familial hypocalciuric hypercalcemia' http://purl.obolibrary.org/obo/MONDO_0010925 velo-facial-skeletal syndrome 'velo-facial-skeletal syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'velo-facial-skeletal syndrome' SubClassOf 'orofacial clefting syndrome' 'velo-facial-skeletal syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010939 low phospholipid associated cholelithiasis 'low phospholipid associated cholelithiasis' SubClassOf 'gallbladder disease' 'low phospholipid associated cholelithiasis' SubClassOf 'cholangitis' 'low phospholipid associated cholelithiasis' SubClassOf 'genetic biliary tract disease' http://purl.obolibrary.org/obo/MONDO_0010938 T-B+ severe combined immunodeficiency due to JAK3 deficiency 'T-B+ severe combined immunodeficiency due to JAK3 deficiency' SubClassOf 'T-B+ severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0009947 glutathione synthetase deficiency with 5-oxoprolinuria 'glutathione synthetase deficiency with 5-oxoprolinuria' SubClassOf 'inherited glutathione synthetase deficiency' http://purl.obolibrary.org/obo/MONDO_0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency 'hemolytic anemia due to pyrimidine 5' nucleotidase deficiency' SubClassOf 'familial hemolytic anemia' 'hemolytic anemia due to pyrimidine 5' nucleotidase deficiency' SubClassOf 'inborn disorder of pyrimidine metabolism' http://purl.obolibrary.org/obo/MONDO_0009945 pyridoxine-dependent epilepsy 'pyridoxine-dependent epilepsy' SubClassOf 'inborn disorder of pyridoxine metabolism' 'pyridoxine-dependent epilepsy' SubClassOf 'metabolic epilepsy' 'pyridoxine-dependent epilepsy' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0009943 Pyle disease 'Pyle disease' SubClassOf 'primary bone dysplasia' 'Pyle disease' SubClassOf 'genetic disorder' 'Pyle disease' SubClassOf 'osteochondrodysplasia' http://purl.obolibrary.org/obo/MONDO_0009942 pyknoachondrogenesis 'pyknoachondrogenesis' SubClassOf 'lethal chondrodysplasia' http://purl.obolibrary.org/obo/MONDO_0010930 anophthalmia plus syndrome 'anophthalmia plus syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'anophthalmia plus syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009940 pycnodysostosis 'pycnodysostosis' SubClassOf 'lysosomal storage disease' 'pycnodysostosis' SubClassOf 'osteochondrodysplasia' 'pycnodysostosis' SubClassOf 'osteopetrosis' http://purl.obolibrary.org/obo/MONDO_0010932 progressive bifocal chorioretinal atrophy 'progressive bifocal chorioretinal atrophy' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0010949 Charcot-Marie-Tooth disease type 2B 'Charcot-Marie-Tooth disease type 2B' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://purl.obolibrary.org/obo/MONDO_0009958 adult Refsum disease 'adult Refsum disease' SubClassOf 'phytanoyl-CoA hydroxylase deficiency' 'adult Refsum disease' SubClassOf 'neurometabolic disease' 'adult Refsum disease' SubClassOf 'genetic peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0009955 rapadilino syndrome 'rapadilino syndrome' SubClassOf 'orofacial clefting syndrome' 'rapadilino syndrome' SubClassOf 'congenital limb malformation' 'rapadilino syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'rapadilino syndrome' SubClassOf 'dysostosis of genetic origin' 'rapadilino syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'rapadilino syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0009954 Ramon syndrome 'Ramon syndrome' SubClassOf 'genetic disorder' 'Ramon syndrome' SubClassOf 'musculoskeletal system disease' http://purl.obolibrary.org/obo/MONDO_0009953 leukocyte adhesion deficiency type II 'leukocyte adhesion deficiency type II' SubClassOf 'leukocyte adhesion deficiency' 'leukocyte adhesion deficiency type II' SubClassOf 'congenital disorder of glycosylation type II' 'leukocyte adhesion deficiency type II' SubClassOf 'disorder of multiple glycosylation' 'leukocyte adhesion deficiency type II' SubClassOf 'congenital nervous system disorder' 'leukocyte adhesion deficiency type II' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0009952 radioulnar synostosis-developmental delay-hypotonia syndrome 'radioulnar synostosis-developmental delay-hypotonia syndrome' SubClassOf 'congenital limb malformation' 'radioulnar synostosis-developmental delay-hypotonia syndrome' SubClassOf 'syndromic intellectual disability' 'radioulnar synostosis-developmental delay-hypotonia syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'radioulnar synostosis-developmental delay-hypotonia syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'radioulnar synostosis-developmental delay-hypotonia syndrome' SubClassOf 'congenital nervous system disorder' 'radioulnar synostosis-developmental delay-hypotonia syndrome' SubClassOf 'developmental disability' 'radioulnar synostosis-developmental delay-hypotonia syndrome' SubClassOf 'congenital radioulnar synostosis' 'radioulnar synostosis-developmental delay-hypotonia syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0009950 pyruvate kinase deficiency of red cells 'pyruvate kinase deficiency of red cells' SubClassOf 'anemia due to erythrocyte enzyme disorder' 'pyruvate kinase deficiency of red cells' SubClassOf 'congenital nonspherocytic hemolytic anemia' 'pyruvate kinase deficiency of red cells' SubClassOf 'pyruvate metabolism disorder' http://purl.obolibrary.org/obo/MONDO_0007309 Charcot-Marie-Tooth disease type 1A 'Charcot-Marie-Tooth disease type 1A' SubClassOf 'Charcot-Marie-Tooth disease type 1' 'Charcot-Marie-Tooth disease type 1A' SubClassOf 'partial duplication of the short arm of chromosome 17' http://purl.obolibrary.org/obo/MONDO_0007307 Charcot-Marie-Tooth disease type 1B 'Charcot-Marie-Tooth disease type 1B' SubClassOf 'Charcot-Marie-Tooth disease type 1' 'Charcot-Marie-Tooth disease type 1B' SubClassOf 'Charcot-Marie-Tooth disease dominant intermediate D' http://purl.obolibrary.org/obo/MONDO_0007308 Charcot-Marie-Tooth disease type 2A1 'Charcot-Marie-Tooth disease type 2A1' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://purl.obolibrary.org/obo/MONDO_0009969 renal-genital-middle ear anomalies 'renal-genital-middle ear anomalies' SubClassOf 'syndromic renal or urinary tract malformation' 'renal-genital-middle ear anomalies' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009966 NPHP3-related Meckel-like syndrome 'NPHP3-related Meckel-like syndrome' SubClassOf 'Meckel syndrome' 'NPHP3-related Meckel-like syndrome' SubClassOf 'genetic nervous system disorder' 'NPHP3-related Meckel-like syndrome' SubClassOf 'central nervous system malformation' 'NPHP3-related Meckel-like syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'NPHP3-related Meckel-like syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0009965 Perlman syndrome 'Perlman syndrome' SubClassOf 'syndromic disease' 'Perlman syndrome' SubClassOf 'overgrowth syndrome' 'Perlman syndrome' SubClassOf 'inherited renal cancer-predisposing syndrome' http://purl.obolibrary.org/obo/MONDO_0007301 cerebrocostomandibular syndrome 'cerebrocostomandibular syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'cerebrocostomandibular syndrome' SubClassOf 'dysostosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0009964 short-rib thoracic dysplasia 9 with or without polydactyly 'short-rib thoracic dysplasia 9 with or without polydactyly' SubClassOf 'familial cystic renal disease' 'short-rib thoracic dysplasia 9 with or without polydactyly' SubClassOf 'Jeune syndrome' 'short-rib thoracic dysplasia 9 with or without polydactyly' SubClassOf 'acromelic dysplasia' 'short-rib thoracic dysplasia 9 with or without polydactyly' SubClassOf 'syndromic retinitis pigmentosa' 'short-rib thoracic dysplasia 9 with or without polydactyly' SubClassOf 'retinal ciliopathy' http://purl.obolibrary.org/obo/MONDO_0009963 Ulbright-Hodes syndrome 'Ulbright-Hodes syndrome' SubClassOf 'syndromic intellectual disability' 'Ulbright-Hodes syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Ulbright-Hodes syndrome' SubClassOf 'congenital nervous system disorder' 'Ulbright-Hodes syndrome' SubClassOf 'syndromic urogenital tract malformation' 'Ulbright-Hodes syndrome' SubClassOf 'syndromic renal or urinary tract malformation' http://purl.obolibrary.org/obo/MONDO_0010952 hereditary hyperferritinemia with congenital cataracts 'hereditary hyperferritinemia with congenital cataracts' SubClassOf 'syndromic cataract' 'hereditary hyperferritinemia with congenital cataracts' SubClassOf 'has modifier' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0010959 van den Ende-Gupta syndrome 'van den Ende-Gupta syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'van den Ende-Gupta syndrome' SubClassOf 'arthrogryposis multiplex congenita' http://purl.obolibrary.org/obo/MONDO_0007318 Alagille syndrome 'Alagille syndrome' SubClassOf 'syndromic visceral malformation' 'Alagille syndrome' SubClassOf 'genetic biliary tract disease' 'Alagille syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Alagille syndrome' SubClassOf 'heart disease' 'Alagille syndrome' SubClassOf 'syndromic renal or urinary tract malformation' 'Alagille syndrome' SubClassOf 'syndromic urogenital tract malformation' 'Alagille syndrome' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0007316 Chiari malformation type I 'Chiari malformation type I' SubClassOf 'genetic nervous system disorder' 'Chiari malformation type I' SubClassOf 'neural tube defect' 'Chiari malformation type I' SubClassOf 'Chiari malformation' http://purl.obolibrary.org/obo/MONDO_0009979 reticular dystrophy of the retinal pigment epithelium 'reticular dystrophy of the retinal pigment epithelium' SubClassOf 'patterned dystrophy of the retinal pigment epithelium' http://purl.obolibrary.org/obo/MONDO_0009978 retinal degeneration-nanophthalmos-glaucoma syndrome 'retinal degeneration-nanophthalmos-glaucoma syndrome' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0009977 Knobloch syndrome 'Knobloch syndrome' SubClassOf 'vitreoretinal degeneration' http://purl.obolibrary.org/obo/MONDO_0007315 cherubism 'cherubism' SubClassOf 'primary immunodeficiency due to a genetic defect in innate immunity' 'cherubism' SubClassOf 'hereditary neoplastic syndrome' 'cherubism' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'cherubism' SubClassOf 'autosomal dominant disease' 'cherubism' SubClassOf 'hereditary disorder of connective tissue' 'cherubism' SubClassOf 'autoinflammatory syndrome' http://purl.obolibrary.org/obo/MONDO_0009974 familial hemophagocytic lymphohistiocytosis type 1 'familial hemophagocytic lymphohistiocytosis type 1' SubClassOf 'brain inflammatory disease' 'familial hemophagocytic lymphohistiocytosis type 1' SubClassOf 'genetic hemophagocytic lymphohistiocytosis' 'familial hemophagocytic lymphohistiocytosis type 1' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0009973 reticular dysgenesis 'reticular dysgenesis' SubClassOf 'T-B- severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0010966 achondrogenesis type IB 'achondrogenesis type IB' SubClassOf 'achondrogenesis' 'achondrogenesis type IB' SubClassOf 'sulfation-related bone disorder' http://purl.obolibrary.org/obo/MONDO_0007311 Charcot-Marie-Tooth disease type 1E 'Charcot-Marie-Tooth disease type 1E' SubClassOf 'syndromic genetic hearing loss' 'Charcot-Marie-Tooth disease type 1E' SubClassOf 'Charcot-Marie-Tooth disease type 1' http://purl.obolibrary.org/obo/MONDO_0009970 renal tubular dysgenesis of genetic origin 'renal tubular dysgenesis of genetic origin' SubClassOf 'genetic disorder' 'renal tubular dysgenesis of genetic origin' SubClassOf 'renal tubular dysgenesis' 'renal tubular dysgenesis of genetic origin' EquivalentTo 'renal tubular dysgenesis' and ('has modifier' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0010961 obesity due to prohormone convertase I deficiency 'obesity due to prohormone convertase I deficiency' SubClassOf 'isolated congenital hypogonadotropic hypogonadism' 'obesity due to prohormone convertase I deficiency' SubClassOf 'genetic non-syndromic obesity' http://purl.obolibrary.org/obo/MONDO_0007326 obsolete paroxysmal nonkinesigenic dyskinesia 1 'obsolete paroxysmal nonkinesigenic dyskinesia 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0009985 retinohepatoendocrinologic syndrome 'retinohepatoendocrinologic syndrome' SubClassOf 'polyendocrinopathy' http://purl.obolibrary.org/obo/MONDO_0007321 autosomal dominant chondrodysplasia punctata 'autosomal dominant chondrodysplasia punctata' SubClassOf 'non-rhizomelic chondrodysplasia punctata' 'autosomal dominant chondrodysplasia punctata' SubClassOf 'syndromic disease' 'autosomal dominant chondrodysplasia punctata' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0010977 Brody myopathy 'Brody myopathy' SubClassOf 'non-dystrophic myopathy' 'Brody myopathy' SubClassOf 'qualitative or quantitative defects of protein SERCA1' http://purl.obolibrary.org/obo/MONDO_0007322 chondrodysplasia punctata, tibial-metacarpal type 'chondrodysplasia punctata, tibial-metacarpal type' SubClassOf 'autosomal dominant chondrodysplasia punctata' http://purl.obolibrary.org/obo/MONDO_0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome 'retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome' SubClassOf 'syndromic genetic hearing loss' 'retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome' SubClassOf 'syndromic retinitis pigmentosa' http://purl.obolibrary.org/obo/MONDO_0010976 epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive 'epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive' SubClassOf 'basal epidermolysis bullosa simplex' http://purl.obolibrary.org/obo/MONDO_0010979 Timothy syndrome 'Timothy syndrome' SubClassOf 'autosomal dominant disease' 'Timothy syndrome' SubClassOf 'disease has feature' some 'ventricular fibrillation' 'Timothy syndrome' SubClassOf 'familial long QT syndrome' 'Timothy syndrome' SubClassOf 'disease has feature' some 'heart conduction disease' http://purl.obolibrary.org/obo/MONDO_0019309 late-onset junctional epidermolysis bullosa 'late-onset junctional epidermolysis bullosa' SubClassOf 'junctional epidermolysis bullosa' http://purl.obolibrary.org/obo/MONDO_0019308 junctional epidermolysis bullosa inversa 'junctional epidermolysis bullosa inversa' SubClassOf 'junctional epidermolysis bullosa' http://purl.obolibrary.org/obo/MONDO_0010971 infundibulopelvic stenosis-multicystic kidney syndrome 'infundibulopelvic stenosis-multicystic kidney syndrome' SubClassOf 'syndromic renal or urinary tract malformation' http://purl.obolibrary.org/obo/MONDO_0019307 generalized junctional epidermolysis bullosa non-Herlitz type 'generalized junctional epidermolysis bullosa non-Herlitz type' SubClassOf 'junctional epidermolysis bullosa, non-Herlitz type' http://purl.obolibrary.org/obo/MONDO_0010972 hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome 'hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0019306 congenital non-bullous ichthyosiform erythroderma 'congenital non-bullous ichthyosiform erythroderma' SubClassOf 'autosomal recessive congenital ichthyosis' http://purl.obolibrary.org/obo/MONDO_0019303 premature aging syndrome 'premature aging syndrome' SubClassOf 'has modifier' some 'rare' 'premature aging syndrome' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0007339 blepharocheilodontic syndrome 'blepharocheilodontic syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'blepharocheilodontic syndrome' SubClassOf 'orofacial clefting syndrome' 'blepharocheilodontic syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'blepharocheilodontic syndrome' SubClassOf 'autosomal dominant disease' 'blepharocheilodontic syndrome' SubClassOf 'congenital ectropion' 'blepharocheilodontic syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://purl.obolibrary.org/obo/MONDO_0009999 autosomal recessive Robinow syndrome 'autosomal recessive Robinow syndrome' SubClassOf 'Robinow syndrome' 'autosomal recessive Robinow syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0007337 cleft palate-lateral synechia syndrome 'cleft palate-lateral synechia syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'cleft palate-lateral synechia syndrome' SubClassOf 'orofacial clefting syndrome' 'cleft palate-lateral synechia syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009998 Richieri Costa-Pereira syndrome 'Richieri Costa-Pereira syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Richieri Costa-Pereira syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'Richieri Costa-Pereira syndrome' SubClassOf 'orofacial clefting syndrome' http://purl.obolibrary.org/obo/MONDO_0007334 autosomal dominant popliteal pterygium syndrome 'autosomal dominant popliteal pterygium syndrome' SubClassOf 'intellectual disability, autosomal dominant' 'autosomal dominant popliteal pterygium syndrome' SubClassOf 'syndromic ankyloblepharon' 'autosomal dominant popliteal pterygium syndrome' SubClassOf 'popliteal pterygium syndrome' 'autosomal dominant popliteal pterygium syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0009997 Roberts syndrome 'Roberts syndrome' SubClassOf 'Roberts-SC phocomelia syndrome' http://purl.obolibrary.org/obo/MONDO_0009996 rhizomelic syndrome, Urbach type 'rhizomelic syndrome, Urbach type' SubClassOf 'mesomelic and rhizo-mesomelic dysplasia' http://purl.obolibrary.org/obo/MONDO_0010988 aplasia cutis-myopia syndrome 'aplasia cutis-myopia syndrome' SubClassOf 'syndromic myopia' 'aplasia cutis-myopia syndrome' SubClassOf 'aplasia cutis congenita' http://purl.obolibrary.org/obo/MONDO_0020310 familial focal epilepsy with variable foci 'familial focal epilepsy with variable foci' SubClassOf 'familial partial epilepsy' 'familial focal epilepsy with variable foci' SubClassOf 'variable age onset epilepsy' http://purl.obolibrary.org/obo/MONDO_0007330 congenital pseudoarthrosis of clavicle 'congenital pseudoarthrosis of clavicle' SubClassOf 'dysostosis of genetic origin' 'congenital pseudoarthrosis of clavicle' SubClassOf 'has modifier' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 'Mayer-Rokitansky-Küster-Hauser syndrome type 2' SubClassOf 'disease has feature' some 'Klippel-Feil syndrome' 'Mayer-Rokitansky-Küster-Hauser syndrome type 2' SubClassOf 'Mayer-Rokitansky-Kuster-Hauser syndrome' 'Mayer-Rokitansky-Küster-Hauser syndrome type 2' SubClassOf 'syndromic anorectal malformation' http://purl.obolibrary.org/obo/MONDO_0009990 Revesz syndrome 'Revesz syndrome' SubClassOf 'dyskeratosis congenita' 'Revesz syndrome' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0010981 absent tibia-polydactyly-arachnoid cyst syndrome 'absent tibia-polydactyly-arachnoid cyst syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'absent tibia-polydactyly-arachnoid cyst syndrome' SubClassOf 'congenital limb malformation' 'absent tibia-polydactyly-arachnoid cyst syndrome' SubClassOf 'dysostosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0010983 dystonia 9 'dystonia 9' SubClassOf 'paroxysmal dystonia' http://purl.obolibrary.org/obo/MONDO_0019317 follicular atrophoderma-basal cell carcinoma 'follicular atrophoderma-basal cell carcinoma' SubClassOf 'Bazex-Dupre-Christol syndrome' http://purl.obolibrary.org/obo/MONDO_0019312 Hermansky-Pudlak syndrome 'Hermansky-Pudlak syndrome' SubClassOf 'inherited blood coagulation disorder' 'Hermansky-Pudlak syndrome' SubClassOf 'syndromic disease' 'Hermansky-Pudlak syndrome' SubClassOf 'dense granule disease' 'Hermansky-Pudlak syndrome' SubClassOf 'syndromic oculocutaneous albinism' 'Hermansky-Pudlak syndrome' SubClassOf 'disorder of lysosomal-related organelles' http://purl.obolibrary.org/obo/MONDO_0019311 woolly hair nevus 'woolly hair nevus' SubClassOf 'nevus, epidermal' 'woolly hair nevus' SubClassOf 'epidermal appendage tumor' 'woolly hair nevus' SubClassOf 'isolated genetic hair shaft abnormality' http://purl.obolibrary.org/obo/MONDO_0019313 lymphatic malformation 'lymphatic malformation' SubClassOf 'primary lymphedema' 'lymphatic malformation' SubClassOf 'genetic vascular anomaly' 'lymphatic malformation' EquivalentTo 'lymphedema' and ('has modifier' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0019310 recessive dystrophic epidermolysis bullosa inversa 'recessive dystrophic epidermolysis bullosa inversa' SubClassOf 'recessive dystrophic epidermolysis bullosa' http://purl.obolibrary.org/obo/MONDO_0010997 supranuclear palsy, progressive, 1 'supranuclear palsy, progressive, 1' SubClassOf 'inherited neurodegenerative disorder' 'supranuclear palsy, progressive, 1' SubClassOf 'progressive supranuclear palsy' http://purl.obolibrary.org/obo/MONDO_0020301 Prader-Willi syndrome due to paternal 15q11q13 deletion 'Prader-Willi syndrome due to paternal 15q11q13 deletion' SubClassOf 'partial deletion of the long arm of chromosome 15' 'Prader-Willi syndrome due to paternal 15q11q13 deletion' SubClassOf 'Prader-Willi syndrome' http://purl.obolibrary.org/obo/MONDO_0007346 cochleosaccular degeneration-cataract syndrome 'cochleosaccular degeneration-cataract syndrome' SubClassOf 'autosomal dominant cataract' 'cochleosaccular degeneration-cataract syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0020300 autosomal dominant nocturnal frontal lobe epilepsy 'autosomal dominant nocturnal frontal lobe epilepsy' SubClassOf 'familial partial epilepsy' 'autosomal dominant nocturnal frontal lobe epilepsy' SubClassOf 'frontal lobe epilepsy' http://purl.obolibrary.org/obo/MONDO_0007343 isolated congenital digital clubbing 'isolated congenital digital clubbing' SubClassOf 'joint formation defects' 'isolated congenital digital clubbing' SubClassOf 'inherited isolated nail anomaly' http://purl.obolibrary.org/obo/MONDO_0010999 fallot complex-intellectual disability-growth delay syndrome 'fallot complex-intellectual disability-growth delay syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '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_0010998 ALG3-CDG 'ALG3-CDG' SubClassOf 'congenital disorder of glycosylation type I' 'ALG3-CDG' SubClassOf 'disorder of protein N-glycosylation' 'ALG3-CDG' SubClassOf 'neurometabolic disease' 'ALG3-CDG' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0007341 cleidorhizomelic syndrome 'cleidorhizomelic syndrome' SubClassOf 'mesomelic and rhizo-mesomelic dysplasia' http://purl.obolibrary.org/obo/MONDO_0007340 cleidocranial dysplasia 'cleidocranial dysplasia' SubClassOf 'syndromic disease' 'cleidocranial dysplasia' SubClassOf 'primary bone dysplasia' 'cleidocranial dysplasia' SubClassOf 'cranial malformation' 'cleidocranial dysplasia' SubClassOf 'genetic disorder' 'cleidocranial dysplasia' SubClassOf 'osteochondrodysplasia' http://purl.obolibrary.org/obo/MONDO_0020308 benign childhood occipital epilepsy, Gastaut type 'benign childhood occipital epilepsy, Gastaut type' SubClassOf 'benign occipital epilepsy' http://purl.obolibrary.org/obo/MONDO_0020307 benign childhood occipital epilepsy, Panayiotopoulos type 'benign childhood occipital epilepsy, Panayiotopoulos type' SubClassOf 'benign occipital epilepsy' http://purl.obolibrary.org/obo/MONDO_0020306 absent tibia-polydactyly syndrome 'absent tibia-polydactyly syndrome' SubClassOf 'dysostosis of genetic origin' 'absent tibia-polydactyly syndrome' SubClassOf 'tibia, hypoplasia or aplasia of, with polydactyly' 'absent tibia-polydactyly syndrome' SubClassOf 'congenital limb malformation' http://purl.obolibrary.org/obo/MONDO_0010993 Harrod syndrome 'Harrod syndrome' SubClassOf 'syndromic intellectual disability' 'Harrod syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Harrod syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0019327 phakomatosis spilorosea 'phakomatosis spilorosea' SubClassOf 'phakomatosis pigmentovascularis' http://purl.obolibrary.org/obo/MONDO_0020305 isochromosomy Yq 'isochromosomy Yq' SubClassOf 'isochromosome Y' http://purl.obolibrary.org/obo/MONDO_0019326 phakomatosis cesiomarmorata 'phakomatosis cesiomarmorata' SubClassOf 'phakomatosis pigmentovascularis' http://purl.obolibrary.org/obo/MONDO_0020304 isochromosomy Yp 'isochromosomy Yp' SubClassOf 'isochromosome Y' http://purl.obolibrary.org/obo/MONDO_0010995 Charcot-Marie-Tooth disease type 1C 'Charcot-Marie-Tooth disease type 1C' SubClassOf 'Charcot-Marie-Tooth disease type 1' http://purl.obolibrary.org/obo/MONDO_0020303 Angelman syndrome due to paternal uniparental disomy of chromosome 15 'Angelman syndrome due to paternal uniparental disomy of chromosome 15' SubClassOf 'chromosome 15 disorder' 'Angelman syndrome due to paternal uniparental disomy of chromosome 15' SubClassOf 'uniparental disomy' 'Angelman syndrome due to paternal uniparental disomy of chromosome 15' SubClassOf 'Angelman syndrome' http://purl.obolibrary.org/obo/MONDO_0010994 obsolete micromelic dwarfism, Fryns type 'obsolete micromelic dwarfism, Fryns type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020302 Angelman syndrome due to maternal 15q11q13 deletion 'Angelman syndrome due to maternal 15q11q13 deletion' SubClassOf 'Angelman syndrome' 'Angelman syndrome due to maternal 15q11q13 deletion' SubClassOf 'partial deletion of the long arm of chromosome 15' http://purl.obolibrary.org/obo/MONDO_0019325 phakomatosis cesioflammea 'phakomatosis cesioflammea' SubClassOf 'phakomatosis pigmentovascularis' http://purl.obolibrary.org/obo/MONDO_0019321 atypical Werner syndrome 'atypical Werner syndrome' SubClassOf 'progeroid syndrome' 'atypical Werner syndrome' SubClassOf 'laminopathy' 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 'genetic multiple congenital anomalies/dysmorphic syndrome' 'uveal coloboma-cleft lip and palate-intellectual disability' SubClassOf 'genetic otorhinolaryngologic disease' 'uveal coloboma-cleft lip and palate-intellectual disability' SubClassOf 'genetic nervous system disorder' 'uveal coloboma-cleft lip and palate-intellectual disability' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'uveal coloboma-cleft lip and palate-intellectual disability' SubClassOf 'orofacial clefting syndrome' 'uveal coloboma-cleft lip and palate-intellectual disability' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0007352 renal coloboma syndrome 'renal coloboma syndrome' SubClassOf 'syndromic urogenital tract malformation' 'renal coloboma syndrome' SubClassOf 'autosomal dominant disease' 'renal coloboma syndrome' SubClassOf 'developmental defect of the eye' 'renal coloboma syndrome' SubClassOf 'syndromic renal or urinary tract malformation' http://purl.obolibrary.org/obo/MONDO_0007353 coloboma of macula-brachydactyly type B syndrome 'coloboma of macula-brachydactyly type B syndrome' SubClassOf 'genetic macular dystrophy' http://purl.obolibrary.org/obo/MONDO_0007351 coloboma of macula 'coloboma of macula' SubClassOf 'coloboma' 'coloboma of macula' SubClassOf 'genetic macular dystrophy' http://purl.obolibrary.org/obo/MONDO_0020339 X-linked complex spastic paraplegia 'X-linked complex spastic paraplegia' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0019338 sarcoidosis 'sarcoidosis' SubClassOf 'granulomatous autoinflammatory syndrome' http://purl.obolibrary.org/obo/MONDO_0020337 congenital dyserythropoietic anemia type 1 'congenital dyserythropoietic anemia type 1' SubClassOf 'congenital anemia' 'congenital dyserythropoietic anemia type 1' SubClassOf 'congenital dyserythropoietic anemia' http://purl.obolibrary.org/obo/MONDO_0020336 autosomal dominant Emery-Dreifuss muscular dystrophy 'autosomal dominant Emery-Dreifuss muscular dystrophy' SubClassOf 'autosomal dominant disease' 'autosomal dominant Emery-Dreifuss muscular dystrophy' SubClassOf 'Emery-Dreifuss muscular dystrophy' 'autosomal dominant Emery-Dreifuss muscular dystrophy' SubClassOf 'laminopathy' http://purl.obolibrary.org/obo/MONDO_0019339 47,XYY syndrome '47,XYY syndrome' SubClassOf 'trisomy' '47,XYY syndrome' SubClassOf 'chromosome Y disorder' http://purl.obolibrary.org/obo/MONDO_0019334 autosomal recessive hyperinsulinism due to Kir6.2 deficiency 'autosomal recessive hyperinsulinism due to Kir6.2 deficiency' SubClassOf 'diazoxide-resistant diffuse hyperinsulinism' 'autosomal recessive hyperinsulinism due to Kir6.2 deficiency' SubClassOf 'hyperinsulinemic hypoglycemia, familial, 2' http://purl.obolibrary.org/obo/MONDO_0019333 autosomal recessive hyperinsulinism due to SUR1 deficiency 'autosomal recessive hyperinsulinism due to SUR1 deficiency' SubClassOf 'hyperinsulinemic hypoglycemia, familial, 1' 'autosomal recessive hyperinsulinism due to SUR1 deficiency' SubClassOf 'diazoxide-resistant diffuse hyperinsulinism' http://purl.obolibrary.org/obo/MONDO_0019336 Gardner syndrome 'Gardner syndrome' SubClassOf 'eye neoplasm' 'Gardner syndrome' SubClassOf 'classic familial adenomatous polyposis' http://purl.obolibrary.org/obo/MONDO_0019335 mild hyperphenylalaninemia 'mild hyperphenylalaninemia' SubClassOf 'phenylketonuria' http://purl.obolibrary.org/obo/MONDO_0019330 pili gemini 'pili gemini' SubClassOf 'isolated genetic hair shaft abnormality' http://purl.obolibrary.org/obo/MONDO_0019332 punctate palmoplantar keratoderma type 1 'punctate palmoplantar keratoderma type 1' SubClassOf 'isolated punctate palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0019350 hereditary spherocytosis 'hereditary spherocytosis' SubClassOf 'familial hemolytic anemia' http://purl.obolibrary.org/obo/MONDO_0007369 hereditary coproporphyria 'hereditary coproporphyria' SubClassOf 'inherited porphyria' 'hereditary coproporphyria' SubClassOf 'hepatic porphyria' http://purl.obolibrary.org/obo/MONDO_0007368 familial benign copper deficiency 'familial benign copper deficiency' SubClassOf 'disorder of copper metabolism' http://purl.obolibrary.org/obo/MONDO_0007363 congenital contractural arachnodactyly 'congenital contractural arachnodactyly' SubClassOf 'arthrogryposis' 'congenital contractural arachnodactyly' SubClassOf 'congenital nervous system disorder' 'congenital contractural arachnodactyly' SubClassOf 'distal arthrogryposis' 'congenital contractural arachnodactyly' SubClassOf 'Marfan and Marfan-related disorder' http://purl.obolibrary.org/obo/MONDO_0019349 Sotos syndrome 'Sotos syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Sotos syndrome' SubClassOf 'partial deletion of the long arm of chromosome 5' 'Sotos syndrome' SubClassOf 'autosomal recessive disease' 'Sotos syndrome' SubClassOf 'overgrowth syndrome' http://purl.obolibrary.org/obo/MONDO_0019347 peeling skin syndrome 'peeling skin syndrome' SubClassOf 'inherited non-syndromic ichthyosis' http://purl.obolibrary.org/obo/MONDO_0019346 sialidosis type 1 'sialidosis type 1' SubClassOf 'neurometabolic disease' 'sialidosis type 1' SubClassOf 'eye disease' 'sialidosis type 1' SubClassOf 'sialidosis' http://purl.obolibrary.org/obo/MONDO_0019342 Seckel syndrome 'Seckel syndrome' SubClassOf 'microcephalic primordial dwarfism' 'Seckel syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0020356 coloboma of iris 'coloboma of iris' SubClassOf 'coloboma, ocular, autosomal dominant' http://purl.obolibrary.org/obo/MONDO_0007379 Meesmann corneal dystrophy 'Meesmann corneal dystrophy' SubClassOf 'epithelial and subepithelial corneal dystrophy' 'Meesmann corneal dystrophy' SubClassOf 'genetic disorder' 'Meesmann corneal dystrophy' SubClassOf 'superficial corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0020355 coloboma of eye lens 'coloboma of eye lens' SubClassOf 'coloboma' http://purl.obolibrary.org/obo/MONDO_0007376 fleck corneal dystrophy 'fleck corneal dystrophy' SubClassOf 'genetic disorder' 'fleck corneal dystrophy' SubClassOf 'stromal corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0020354 coloboma of choroid and retina 'coloboma of choroid and retina' SubClassOf 'coloboma, ocular, autosomal dominant' http://purl.obolibrary.org/obo/MONDO_0007377 granular corneal dystrophy type I 'granular corneal dystrophy type I' SubClassOf 'epithelial-stromal TGFBI dystrophy' 'granular corneal dystrophy type I' SubClassOf 'stromal corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0020353 von Hippel anomaly 'von Hippel anomaly' SubClassOf 'Peters anomaly' http://purl.obolibrary.org/obo/MONDO_0007374 Schnyder corneal dystrophy 'Schnyder corneal dystrophy' SubClassOf 'stromal corneal dystrophy' 'Schnyder corneal dystrophy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007375 epithelial basement membrane dystrophy 'epithelial basement membrane dystrophy' SubClassOf 'epithelial and subepithelial corneal dystrophy' 'epithelial basement membrane dystrophy' SubClassOf 'superficial corneal dystrophy' 'epithelial basement membrane dystrophy' SubClassOf 'epithelial-stromal TGFBI dystrophy' http://purl.obolibrary.org/obo/MONDO_0007381 epithelial recurrent erosion dystrophy 'epithelial recurrent erosion dystrophy' SubClassOf 'genetic disorder' 'epithelial recurrent erosion dystrophy' SubClassOf 'superficial corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0007382 Ramos-Arroyo syndrome 'Ramos-Arroyo syndrome' SubClassOf 'syndromic genetic hearing loss' 'Ramos-Arroyo syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Ramos-Arroyo syndrome' SubClassOf 'syndromic intellectual disability' 'Ramos-Arroyo syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Ramos-Arroyo syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0007380 lattice corneal dystrophy type I 'lattice corneal dystrophy type I' SubClassOf 'epithelial-stromal TGFBI dystrophy' 'lattice corneal dystrophy type I' SubClassOf 'lattice corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0020359 congenital symblepharon 'congenital symblepharon' SubClassOf 'has modifier' some 'congenital' 'congenital symblepharon' SubClassOf 'isolated cryptophthalmia' http://purl.obolibrary.org/obo/MONDO_0020358 coloboma of optic disc 'coloboma of optic disc' SubClassOf 'coloboma' http://purl.obolibrary.org/obo/MONDO_0020357 coloboma of eyelid 'coloboma of eyelid' SubClassOf 'coloboma' 'coloboma of eyelid' SubClassOf 'eyelid border anomaly' http://purl.obolibrary.org/obo/MONDO_0019356 urogenital tract malformation 'urogenital tract malformation' SubClassOf 'has modifier' some 'rare' 'urogenital tract malformation' SubClassOf 'developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0019358 encephalopathy due to sulfite oxidase deficiency 'encephalopathy due to sulfite oxidase deficiency' SubClassOf 'inborn disorder of methionine cycle and sulfur amino acid metabolism' 'encephalopathy due to sulfite oxidase deficiency' SubClassOf 'developmental anomaly of metabolic origin' 'encephalopathy due to sulfite oxidase deficiency' SubClassOf 'lens position anomaly' 'encephalopathy due to sulfite oxidase deficiency' SubClassOf 'cerebral organic aciduria' 'encephalopathy due to sulfite oxidase deficiency' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0019351 isolated spina bifida 'isolated spina bifida' SubClassOf 'spina bifida' 'isolated spina bifida' SubClassOf 'non-syndromic central nervous system malformation' 'isolated spina bifida' EquivalentTo 'spina bifida' and ('has modifier' some 'has an isolated presentation') http://purl.obolibrary.org/obo/MONDO_0019354 Stickler syndrome 'Stickler syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'Stickler syndrome' SubClassOf 'spondyloepiphyseal dysplasia' 'Stickler syndrome' SubClassOf 'disease has feature' some 'collagenopathy' 'Stickler syndrome' SubClassOf 'genetic syndromic Pierre Robin syndrome' 'Stickler syndrome' SubClassOf 'syndromic myopia' 'Stickler syndrome' SubClassOf 'vitreoretinal degeneration' 'Stickler syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0019353 Stargardt disease 'Stargardt disease' SubClassOf 'age-related macular degeneration' 'Stargardt disease' SubClassOf 'familial flecked retinopathy' http://purl.obolibrary.org/obo/MONDO_0020345 presynaptic congenital myasthenic syndrome 'presynaptic congenital myasthenic syndrome' SubClassOf 'congenital myasthenic syndrome' http://purl.obolibrary.org/obo/MONDO_0020344 postsynaptic congenital myasthenic syndrome 'postsynaptic congenital myasthenic syndrome' SubClassOf 'congenital myasthenic syndrome' 'postsynaptic congenital myasthenic syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0020343 alpha-crystallinopathy 'alpha-crystallinopathy' SubClassOf 'myofibrillar myopathy' 'alpha-crystallinopathy' SubClassOf 'qualitative or quantitative defects of alphaB-cristallin' http://purl.obolibrary.org/obo/MONDO_0020342 congenital myopathy with excess of thin filaments 'congenital myopathy with excess of thin filaments' SubClassOf 'qualitative or quantitative defects of alpha-actin' 'congenital myopathy with excess of thin filaments' SubClassOf 'alpha-actinopathy' http://purl.obolibrary.org/obo/MONDO_0020341 periventricular nodular heterotopia 'periventricular nodular heterotopia' SubClassOf 'congenital nervous system disorder' 'periventricular nodular heterotopia' SubClassOf 'genetic nervous system disorder' 'periventricular nodular heterotopia' SubClassOf 'nodular neuronal heterotopia' http://purl.obolibrary.org/obo/MONDO_0020340 bilateral perisylvian polymicrogyria 'bilateral perisylvian polymicrogyria' SubClassOf 'bilateral polymicrogyria' http://purl.obolibrary.org/obo/MONDO_0007383 Stern-Lubinsky-Durrie syndrome 'Stern-Lubinsky-Durrie syndrome' SubClassOf 'syndromic corneal dystrophy' 'Stern-Lubinsky-Durrie syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0007384 congenital trigeminal anesthesia 'congenital trigeminal anesthesia' SubClassOf 'neuro-ophthalmological disease' 'congenital trigeminal anesthesia' SubClassOf 'genetic peripheral neuropathy' 'congenital trigeminal anesthesia' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0007392 coxoauricular syndrome 'coxoauricular syndrome' SubClassOf 'bone disease' http://purl.obolibrary.org/obo/MONDO_0020346 synaptic congenital myasthenic syndrome 'synaptic congenital myasthenic syndrome' SubClassOf 'congenital myasthenic syndrome' http://purl.obolibrary.org/obo/MONDO_0019366 free sialic acid storage disease 'free sialic acid storage disease' SubClassOf 'inborn disorder of lysosomal amino acid transport' 'free sialic acid storage disease' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0020370 Cogan-Reese syndrome 'Cogan-Reese syndrome' SubClassOf 'iridocorneal endothelial syndrome' http://purl.obolibrary.org/obo/MONDO_0020378 early-onset posterior polar cataract 'early-onset posterior polar cataract' SubClassOf 'cataract 16 multiple types' http://purl.obolibrary.org/obo/MONDO_0020377 early-onset partial cataract 'early-onset partial cataract' SubClassOf 'early-onset non-syndromic cataract' http://purl.obolibrary.org/obo/MONDO_0020376 early-onset nuclear cataract 'early-onset nuclear cataract' SubClassOf 'early-onset zonular cataract' http://purl.obolibrary.org/obo/MONDO_0020375 coralliform cataract 'coralliform cataract' SubClassOf 'early-onset partial cataract' http://purl.obolibrary.org/obo/MONDO_0007396 dysostosis, Stanescu type 'dysostosis, Stanescu type' SubClassOf 'osteosclerosis' http://purl.obolibrary.org/obo/MONDO_0020374 cerulean cataract 'cerulean cataract' SubClassOf 'early-onset partial cataract' http://purl.obolibrary.org/obo/MONDO_0020373 early-onset anterior polar cataract 'early-onset anterior polar cataract' SubClassOf 'early-onset partial cataract' http://purl.obolibrary.org/obo/MONDO_0020372 early-onset sutural cataract 'early-onset sutural cataract' SubClassOf 'early-onset zonular cataract' http://purl.obolibrary.org/obo/MONDO_0007395 craniofacial-deafness-hand syndrome 'craniofacial-deafness-hand syndrome' SubClassOf 'syndromic genetic hearing loss' 'craniofacial-deafness-hand syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'craniofacial-deafness-hand syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0020371 essential iris atrophy 'essential iris atrophy' SubClassOf 'iridocorneal endothelial syndrome' http://purl.obolibrary.org/obo/MONDO_0044348 hemoglobinopathy 'hemoglobinopathy' SubClassOf 'disease has feature' some 'anemia' 'hemoglobinopathy' SubClassOf 'erythrocyte disorder' http://purl.obolibrary.org/obo/MONDO_0019374 CAMOS syndrome 'CAMOS syndrome' SubClassOf 'autosomal recessive congenital cerebellar ataxia' 'CAMOS syndrome' SubClassOf 'syndromic hereditary optic neuropathy' http://purl.obolibrary.org/obo/MONDO_0019375 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome 'megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome' SubClassOf 'overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes' 'megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome' SubClassOf 'non-syndromic central nervous system malformation' 'megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome' SubClassOf 'congenital hydrocephalus' 'megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome' SubClassOf 'non-syndromic polydactyly' http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia 'Fanconi anemia' SubClassOf 'bone marrow disorder' 'Fanconi anemia' SubClassOf 'genetic skin disease' 'Fanconi anemia' SubClassOf 'dysostosis of genetic origin' 'Fanconi anemia' SubClassOf 'hyperpigmentation of the skin' 'Fanconi anemia' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Fanconi anemia' SubClassOf 'kidney disease' 'Fanconi anemia' SubClassOf 'inherited aplastic anemia' 'Fanconi anemia' SubClassOf 'DNA repair deficiency' 'Fanconi anemia' SubClassOf 'congenital limb malformation' 'Fanconi anemia' SubClassOf 'developmental anomaly of metabolic origin' 'Fanconi anemia' SubClassOf 'congenital anemia' http://purl.obolibrary.org/obo/MONDO_0019394 Senior-Boichis syndrome 'Senior-Boichis syndrome' SubClassOf 'inherited renal tubular disease' http://purl.obolibrary.org/obo/MONDO_0020367 juvenile open angle glaucoma 'juvenile open angle glaucoma' SubClassOf 'primary hereditary glaucoma' 'juvenile open angle glaucoma' SubClassOf 'open-angle glaucoma' http://purl.obolibrary.org/obo/MONDO_0020366 congenital glaucoma 'congenital glaucoma' SubClassOf 'has modifier' some 'congenital' 'congenital glaucoma' SubClassOf 'primary hereditary glaucoma' http://purl.obolibrary.org/obo/MONDO_0020365 congenital hereditary endothelial dystrophy type I 'congenital hereditary endothelial dystrophy type I' SubClassOf 'posterior corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0020364 posterior polymorphous corneal dystrophy 'posterior polymorphous corneal dystrophy' SubClassOf 'corneal endothelial dystrophy' 'posterior polymorphous corneal dystrophy' SubClassOf 'posterior corneal dystrophy' 'posterior polymorphous corneal dystrophy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0020363 honey-droplet corneal dystrophy 'honey-droplet corneal dystrophy' SubClassOf 'superficial corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0020362 inverse Marcus-Gunn phenomenon 'inverse Marcus-Gunn phenomenon' SubClassOf 'jaw-winking syndrome' http://purl.obolibrary.org/obo/MONDO_0020361 partial cryptophthalmia 'partial cryptophthalmia' SubClassOf 'isolated cryptophthalmia' http://purl.obolibrary.org/obo/MONDO_0020360 complete cryptophthalmia 'complete cryptophthalmia' SubClassOf 'isolated cryptophthalmia' http://purl.obolibrary.org/obo/MONDO_0020369 Chandler syndrome 'Chandler syndrome' SubClassOf 'iridocorneal endothelial syndrome' http://purl.obolibrary.org/obo/MONDO_0020368 Axenfeld anomaly 'Axenfeld anomaly' SubClassOf 'goniodysgenesis' http://purl.obolibrary.org/obo/MONDO_0019388 pelvis syndrome 'pelvis syndrome' SubClassOf 'vascular neoplasm' 'pelvis syndrome' SubClassOf 'syndromic anorectal malformation' 'pelvis syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019387 macrostomia-preauricular tags-external ophthalmoplegia syndrome 'macrostomia-preauricular tags-external ophthalmoplegia syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019398 desmin-related myopathy with Mallory body-like inclusions 'desmin-related myopathy with Mallory body-like inclusions' SubClassOf 'inclusion myopathy' 'desmin-related myopathy with Mallory body-like inclusions' SubClassOf 'rigid spine muscular dystrophy 1' http://purl.obolibrary.org/obo/MONDO_0019397 unknown leukodystrophy 'unknown leukodystrophy' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0020381 patterned macular dystrophy 'patterned macular dystrophy' SubClassOf 'patterned dystrophy of the retinal pigment epithelium' 'patterned macular dystrophy' SubClassOf 'macular degeneration' http://purl.obolibrary.org/obo/MONDO_0020380 autosomal dominant cerebellar ataxia 'autosomal dominant cerebellar ataxia' SubClassOf 'disease has major feature' some 'dementia' 'autosomal dominant cerebellar ataxia' SubClassOf 'eye degenerative disorder' 'autosomal dominant cerebellar ataxia' SubClassOf 'genetic dementia' 'autosomal dominant cerebellar ataxia' SubClassOf 'autosomal dominant disease' 'autosomal dominant cerebellar ataxia' SubClassOf 'neuro-ophthalmological disease' 'autosomal dominant cerebellar ataxia' SubClassOf 'cerebellar degeneration' 'autosomal dominant cerebellar ataxia' SubClassOf 'hereditary cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0020388 double outlet right ventricle with non-committed subpulmonary ventricular septal defect 'double outlet right ventricle with non-committed subpulmonary ventricular septal defect' SubClassOf 'double outlet right ventricle' http://purl.obolibrary.org/obo/MONDO_0020387 double outlet right ventricle with subpulmonary ventricular septal defect 'double outlet right ventricle with subpulmonary ventricular septal defect' SubClassOf 'double outlet right ventricle' http://purl.obolibrary.org/obo/MONDO_0020386 double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis 'double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis' SubClassOf 'double outlet right ventricle' http://purl.obolibrary.org/obo/MONDO_0020385 congenitally uncorrected transposition of the great arteries with coarctation 'congenitally uncorrected transposition of the great arteries with coarctation' SubClassOf 'dextro-looped transposition of the great arteries' 'congenitally uncorrected transposition of the great arteries with coarctation' SubClassOf 'has modifier' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0020384 Niemann-Pick disease type E 'Niemann-Pick disease type E' SubClassOf 'Niemann-Pick disease' http://purl.obolibrary.org/obo/MONDO_0020383 fundus pulverulentus 'fundus pulverulentus' SubClassOf 'patterned dystrophy of the retinal pigment epithelium' http://purl.obolibrary.org/obo/MONDO_0020382 multifocal pattern dystrophy simulating fundus flavimaculatus 'multifocal pattern dystrophy simulating fundus flavimaculatus' SubClassOf 'patterned dystrophy of the retinal pigment epithelium' http://purl.obolibrary.org/obo/MONDO_0044331 genetic transient congenital hypothyroidism 'genetic transient congenital hypothyroidism' EquivalentTo 'transient congenital hypothyroidism' and ('has modifier' some 'inherited') 'genetic transient congenital hypothyroidism' SubClassOf 'genetic disorder' 'genetic transient congenital hypothyroidism' SubClassOf 'transient congenital hypothyroidism due to neonatal factor' http://purl.obolibrary.org/obo/MONDO_0015653 monogenic epilepsy 'monogenic epilepsy' SubClassOf 'motor stereotypies' 'monogenic epilepsy' SubClassOf 'epilepsy' http://purl.obolibrary.org/obo/MONDO_0015650 epilepsy syndrome 'epilepsy syndrome' SubClassOf 'has modifier' some 'rare' 'epilepsy syndrome' SubClassOf 'epilepsy' http://purl.obolibrary.org/obo/MONDO_0013003 isolated congenital hypoglossia/aglossia 'isolated congenital hypoglossia/aglossia' SubClassOf 'hypoglossia/aglossia' 'isolated congenital hypoglossia/aglossia' SubClassOf 'has modifier' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0015666 familial idiopathic dilatation of the right atrium 'familial idiopathic dilatation of the right atrium' SubClassOf 'atrial defect and interatrial communication' 'familial idiopathic dilatation of the right atrium' SubClassOf 'idiopathic disease' http://purl.obolibrary.org/obo/MONDO_0013007 combined immunodeficiency due to ORAI1 deficiency 'combined immunodeficiency due to ORAI1 deficiency' SubClassOf 'combined immunodeficiency due to CRAC channel dysfunction' http://purl.obolibrary.org/obo/MONDO_0013008 combined immunodeficiency due to STIM1 deficiency 'combined immunodeficiency due to STIM1 deficiency' SubClassOf 'combined immunodeficiency due to CRAC channel dysfunction' http://purl.obolibrary.org/obo/MONDO_0013005 EAST syndrome 'EAST syndrome' SubClassOf 'inherited renal tubular disease' 'EAST syndrome' SubClassOf 'hereditary ataxia' 'EAST syndrome' SubClassOf 'syndromic intellectual disability' 'EAST syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0015668 hereditary dentin defect 'hereditary dentin defect' SubClassOf 'tooth disease' http://purl.obolibrary.org/obo/MONDO_0013006 isolated growth hormone deficiency type IB 'isolated growth hormone deficiency type IB' SubClassOf 'isolated congenital growth hormone deficiency' http://purl.obolibrary.org/obo/MONDO_0013000 porphyria due to ALA dehydratase deficiency 'porphyria due to ALA dehydratase deficiency' SubClassOf 'hepatic porphyria' 'porphyria due to ALA dehydratase deficiency' SubClassOf 'inherited porphyria' http://purl.obolibrary.org/obo/MONDO_0013014 spondyloepimetaphyseal dysplasia, aggrecan type 'spondyloepimetaphyseal dysplasia, aggrecan type' SubClassOf 'aggrecan-related bone disorder' 'spondyloepimetaphyseal dysplasia, aggrecan type' SubClassOf 'genetic disorder' 'spondyloepimetaphyseal dysplasia, aggrecan type' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0015674 late infantile neuronal ceroid lipofuscinosis 'late infantile neuronal ceroid lipofuscinosis' SubClassOf 'neuronal ceroid lipofuscinosis' 'late infantile neuronal ceroid lipofuscinosis' SubClassOf 'progressive myoclonus epilepsy' http://purl.obolibrary.org/obo/MONDO_0015679 autosomal thrombocytopenia with normal platelets 'autosomal thrombocytopenia with normal platelets' SubClassOf 'hereditary thrombocytopenia with normal platelets' http://purl.obolibrary.org/obo/MONDO_0013016 leukocyte adhesion deficiency 3 'leukocyte adhesion deficiency 3' SubClassOf 'leukocyte adhesion deficiency' 'leukocyte adhesion deficiency 3' SubClassOf 'autosomal recessive osteopetrosis' http://purl.obolibrary.org/obo/MONDO_0015678 dysplasia of head of femur, Meyer type 'dysplasia of head of femur, Meyer type' SubClassOf 'multiple epiphyseal dysplasia and pseudoachondroplasia' http://purl.obolibrary.org/obo/MONDO_0013025 chromosome 6q24-q25 deletion syndrome 'chromosome 6q24-q25 deletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 6' http://purl.obolibrary.org/obo/MONDO_0013026 subepithelial mucinous corneal dystrophy 'subepithelial mucinous corneal dystrophy' SubClassOf 'epithelial and subepithelial corneal dystrophy' 'subepithelial mucinous corneal dystrophy' SubClassOf 'superficial corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0013027 posterior amorphous corneal dystrophy 'posterior amorphous corneal dystrophy' SubClassOf 'stromal corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0013028 adenosine monophosphate deaminase deficiency 'adenosine monophosphate deaminase deficiency' SubClassOf 'inborn mitochondrial myopathy' 'adenosine monophosphate deaminase deficiency' SubClassOf 'inborn disorder of purine metabolism' http://purl.obolibrary.org/obo/MONDO_0013021 sterile multifocal osteomyelitis with periostitis and pustulosis 'sterile multifocal osteomyelitis with periostitis and pustulosis' SubClassOf 'hereditary disorder of connective tissue' 'sterile multifocal osteomyelitis with periostitis and pustulosis' SubClassOf 'primary immunodeficiency due to a genetic defect in innate immunity' 'sterile multifocal osteomyelitis with periostitis and pustulosis' SubClassOf 'pyogenic autoinflammatory syndrome' http://purl.obolibrary.org/obo/MONDO_0015681 childhood disintegrative disorder 'childhood disintegrative disorder' SubClassOf 'has modifier' some 'rare' 'childhood disintegrative disorder' SubClassOf 'pervasive developmental disorder' http://purl.obolibrary.org/obo/MONDO_0013036 Zechi-Ceide syndrome 'Zechi-Ceide syndrome' SubClassOf 'syndromic intellectual disability' 'Zechi-Ceide syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Zechi-Ceide syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0015698 transient hypogammaglobulinemia of infancy 'transient hypogammaglobulinemia of infancy' SubClassOf 'transient hypogammaglobulinemia' http://purl.obolibrary.org/obo/MONDO_0015697 immunoglobulin heavy chain deficiency 'immunoglobulin heavy chain deficiency' SubClassOf 'immunodeficiency predominantly affecting antibody production' http://purl.obolibrary.org/obo/MONDO_0013035 orofaciodigital syndrome XI 'orofaciodigital syndrome XI' SubClassOf 'orofaciodigital syndrome' http://purl.obolibrary.org/obo/MONDO_0013038 CLOVES syndrome 'CLOVES syndrome' SubClassOf 'subcutaneous tissue disorder' 'CLOVES syndrome' SubClassOf 'syndromic disease' 'CLOVES syndrome' SubClassOf 'inherited skin tumor' 'CLOVES syndrome' SubClassOf 'cardiovascular organ benign neoplasm' 'CLOVES syndrome' SubClassOf 'melanocytic nevus' 'CLOVES syndrome' SubClassOf 'genetic vascular anomaly' 'CLOVES syndrome' SubClassOf 'vascular neoplasm' http://purl.obolibrary.org/obo/MONDO_0015695 combined immunodeficiency due to CRAC channel dysfunction 'combined immunodeficiency due to CRAC channel dysfunction' SubClassOf 'primary immunodeficiency due to a defect in adaptive immunity' 'combined immunodeficiency due to CRAC channel dysfunction' SubClassOf 'channelopathy' http://purl.obolibrary.org/obo/MONDO_0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 'glycogen storage disease due to lactate dehydrogenase M-subunit deficiency' SubClassOf 'glycogen storage disease due to lactate dehydrogenase deficiency' 'glycogen storage disease due to lactate dehydrogenase M-subunit deficiency' SubClassOf 'muscular glycogenosis' http://purl.obolibrary.org/obo/MONDO_0013046 glycogen storage disease due to muscle beta-enolase deficiency 'glycogen storage disease due to muscle beta-enolase deficiency' SubClassOf 'glycogen storage disease' 'glycogen storage disease due to muscle beta-enolase deficiency' SubClassOf 'muscular glycogenosis' http://purl.obolibrary.org/obo/MONDO_0013049 DPM3-CDG 'DPM3-CDG' SubClassOf 'muscular dystrophy-dystroglycanopathy' 'DPM3-CDG' SubClassOf 'disorder of multiple glycosylation' 'DPM3-CDG' SubClassOf 'neurometabolic disease' 'DPM3-CDG' SubClassOf 'familial dilated cardiomyopathy' 'DPM3-CDG' SubClassOf 'congenital disorder of glycosylation type I' http://purl.obolibrary.org/obo/MONDO_0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly 'atypical hemolytic-uremic syndrome with MCP/CD46 anomaly' SubClassOf 'atypical hemolytic-uremic syndrome' http://purl.obolibrary.org/obo/MONDO_0013043 atypical hemolytic-uremic syndrome with C3 anomaly 'atypical hemolytic-uremic syndrome with C3 anomaly' SubClassOf 'atypical hemolytic-uremic syndrome' http://purl.obolibrary.org/obo/MONDO_0013044 atypical hemolytic-uremic syndrome with thrombomodulin anomaly 'atypical hemolytic-uremic syndrome with thrombomodulin anomaly' SubClassOf 'hemolytic-uremic syndrome' http://purl.obolibrary.org/obo/MONDO_0013041 atypical hemolytic-uremic syndrome with I factor anomaly 'atypical hemolytic-uremic syndrome with I factor anomaly' SubClassOf 'atypical hemolytic-uremic syndrome' http://purl.obolibrary.org/obo/MONDO_0013042 atypical hemolytic-uremic syndrome with B factor anomaly 'atypical hemolytic-uremic syndrome with B factor anomaly' SubClassOf 'atypical hemolytic-uremic syndrome' http://purl.obolibrary.org/obo/MONDO_0013058 cystic leukoencephalopathy without megalencephaly 'cystic leukoencephalopathy without megalencephaly' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0013056 developmental and epileptic encephalopathy, 39 'developmental and epileptic encephalopathy, 39' SubClassOf 'neonatal-onset developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 39' SubClassOf 'mitochondrial substrate carrier disorder' http://purl.obolibrary.org/obo/MONDO_0013050 lethal polymalformative syndrome, Boissel type 'lethal polymalformative syndrome, Boissel type' SubClassOf 'genetic lethal multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0013051 autosomal recessive cutis laxa type 2B 'autosomal recessive cutis laxa type 2B' SubClassOf 'autosomal recessive cutis laxa type 2' http://purl.obolibrary.org/obo/MONDO_0013053 microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type 'microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type' SubClassOf 'heart disease' http://purl.obolibrary.org/obo/MONDO_0013069 autosomal recessive optic atrophy, OPA7 type 'autosomal recessive optic atrophy, OPA7 type' SubClassOf 'hereditary optic atrophy' 'autosomal recessive optic atrophy, OPA7 type' SubClassOf 'syndromic hereditary optic neuropathy' 'autosomal recessive optic atrophy, OPA7 type' SubClassOf 'mitochondrial oxidative phosphorylation disorder' 'autosomal recessive optic atrophy, OPA7 type' SubClassOf 'eye degenerative disorder' http://purl.obolibrary.org/obo/MONDO_0013061 myofibrillar myopathy 6 'myofibrillar myopathy 6' SubClassOf 'myofibrillar myopathy' http://purl.obolibrary.org/obo/MONDO_0013060 autosomal recessive Parkinson disease 14 'autosomal recessive Parkinson disease 14' SubClassOf 'late-onset Parkinson disease' 'autosomal recessive Parkinson disease 14' SubClassOf 'PLA2G6-associated neurodegeneration' http://purl.obolibrary.org/obo/MONDO_0013074 encephalocraniocutaneous lipomatosis 'encephalocraniocutaneous lipomatosis' SubClassOf 'inherited skin tumor' 'encephalocraniocutaneous lipomatosis' SubClassOf 'benign neoplasm of skin' 'encephalocraniocutaneous lipomatosis' SubClassOf 'inherited soft tissue tumor' 'encephalocraniocutaneous lipomatosis' SubClassOf 'subcutaneous tissue disorder' 'encephalocraniocutaneous lipomatosis' SubClassOf 'lipomatosis' 'encephalocraniocutaneous lipomatosis' SubClassOf 'hereditary disorder of connective tissue' 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 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'chromosome 19q13.11 deletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 19' 'chromosome 19q13.11 deletion syndrome' SubClassOf 'congenital nervous system disorder' 'chromosome 19q13.11 deletion syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'chromosome 19q13.11 deletion syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0013082 Hirschsprung disease-ganglioneuroblastoma syndrome 'Hirschsprung disease-ganglioneuroblastoma syndrome' SubClassOf 'intestinal motility disease' 'Hirschsprung disease-ganglioneuroblastoma syndrome' SubClassOf 'syndromic anorectal malformation' http://purl.obolibrary.org/obo/MONDO_0013099 combined pituitary hormone deficiencies, genetic form 'combined pituitary hormone deficiencies, genetic form' SubClassOf 'congenital hypogonadotropic hypogonadism' 'combined pituitary hormone deficiencies, genetic form' SubClassOf 'congenital nervous system disorder' 'combined pituitary hormone deficiencies, genetic form' SubClassOf 'hypopituitarism' 'combined pituitary hormone deficiencies, genetic form' SubClassOf 'genetic nervous system disorder' 'combined pituitary hormone deficiencies, genetic form' EquivalentTo 'hypopituitarism' and ('has modifier' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0015706 mosaic trisomy 1 'mosaic trisomy 1' SubClassOf 'chromosome 1 disorder' 'mosaic trisomy 1' SubClassOf 'total autosomal trisomy' 'mosaic trisomy 1' SubClassOf 'has modifier' some 'mosaic' 'mosaic trisomy 1' SubClassOf 'trisomy' http://purl.obolibrary.org/obo/MONDO_0015705 autosomal recessive centronuclear myopathy 'autosomal recessive centronuclear myopathy' SubClassOf 'TTN-related myopathy' 'autosomal recessive centronuclear myopathy' SubClassOf 'autosomal recessive disease' 'autosomal recessive centronuclear myopathy' SubClassOf 'centronuclear myopathy' http://purl.obolibrary.org/obo/MONDO_0015704 familial scaphocephaly syndrome 'familial scaphocephaly syndrome' SubClassOf 'syndromic craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0015708 immuno-osseous dysplasia 'immuno-osseous dysplasia' SubClassOf 'primary immunodeficiency due to a defect in adaptive immunity' http://purl.obolibrary.org/obo/MONDO_0015703 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta 'T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta' SubClassOf 'T-B+ severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0015702 T-B+ severe combined immunodeficiency due to CD45 deficiency 'T-B+ severe combined immunodeficiency due to CD45 deficiency' SubClassOf 'T-B+ severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0015701 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency 'T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency' SubClassOf 'T-B+ severe combined immunodeficiency' 'T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0015700 immunodeficiency due to a late component of complement deficiency 'immunodeficiency due to a late component of complement deficiency' SubClassOf 'complement deficiency' http://purl.obolibrary.org/obo/MONDO_0015718 mosaic trisomy 12 'mosaic trisomy 12' SubClassOf 'trisomy' 'mosaic trisomy 12' SubClassOf 'chromosome 12 disorder' 'mosaic trisomy 12' SubClassOf 'has modifier' some 'mosaic' 'mosaic trisomy 12' SubClassOf 'total autosomal trisomy' http://purl.obolibrary.org/obo/MONDO_0015717 mild hemophilia B 'mild hemophilia B' SubClassOf 'hemophilia B' http://purl.obolibrary.org/obo/MONDO_0015716 moderately severe hemophilia B 'moderately severe hemophilia B' SubClassOf 'hemophilia B' http://purl.obolibrary.org/obo/MONDO_0015715 severe hemophilia B 'severe hemophilia B' SubClassOf 'hemophilia B' http://purl.obolibrary.org/obo/MONDO_0015719 severe hemophilia A 'severe hemophilia A' SubClassOf 'hemophilia A' http://purl.obolibrary.org/obo/MONDO_0015712 non-distal trisomy 10q 'non-distal trisomy 10q' SubClassOf 'partial duplication of the long arm of chromosome 10' http://purl.obolibrary.org/obo/MONDO_0015729 mosaic trisomy 16 'mosaic trisomy 16' SubClassOf 'total autosomal trisomy' 'mosaic trisomy 16' SubClassOf 'chromosome 16 trisomy' 'mosaic trisomy 16' SubClassOf 'has modifier' some 'mosaic' http://purl.obolibrary.org/obo/MONDO_0015728 distal trisomy 15q 'distal trisomy 15q' SubClassOf '15q overgrowth syndrome' http://purl.obolibrary.org/obo/MONDO_0015727 mosaic trisomy 15 'mosaic trisomy 15' SubClassOf 'has modifier' some 'mosaic' 'mosaic trisomy 15' SubClassOf 'total autosomal trisomy' 'mosaic trisomy 15' SubClassOf 'chromosome 15 disorder' 'mosaic trisomy 15' SubClassOf 'trisomy' http://purl.obolibrary.org/obo/MONDO_0015726 distal trisomy 14q 'distal trisomy 14q' SubClassOf 'syndromic epicanthus' 'distal trisomy 14q' SubClassOf 'partial duplication of the long arm of chromosome 14' http://purl.obolibrary.org/obo/MONDO_0015721 mild hemophilia A 'mild hemophilia A' SubClassOf 'hemophilia A' http://purl.obolibrary.org/obo/MONDO_0015720 moderately severe hemophilia A 'moderately severe hemophilia A' SubClassOf 'hemophilia A' http://purl.obolibrary.org/obo/MONDO_0015725 mosaic trisomy 14 'mosaic trisomy 14' SubClassOf 'total autosomal trisomy' 'mosaic trisomy 14' SubClassOf 'has modifier' some 'mosaic' 'mosaic trisomy 14' SubClassOf 'trisomy' 'mosaic trisomy 14' SubClassOf 'chromosome 14 disorder' http://purl.obolibrary.org/obo/MONDO_0015724 non-distal trisomy 13q 'non-distal trisomy 13q' SubClassOf 'chromosome 13q trisomy' http://purl.obolibrary.org/obo/MONDO_0015723 trisomy 12p 'trisomy 12p' SubClassOf 'epilepsy' 'trisomy 12p' SubClassOf 'genetic nervous system disorder' 'trisomy 12p' SubClassOf 'partial trisomy/tetrasomy of the short arm of chromosome 12' http://purl.obolibrary.org/obo/MONDO_0015722 congenital vitamin K-dependent coagulation factors deficiency 'congenital vitamin K-dependent coagulation factors deficiency' SubClassOf 'hemorrhagic disease' 'congenital vitamin K-dependent coagulation factors deficiency' SubClassOf 'inherited blood coagulation disorder' 'congenital vitamin K-dependent coagulation factors deficiency' SubClassOf 'coagulation protein disease' 'congenital vitamin K-dependent coagulation factors deficiency' SubClassOf 'congenital hematological disorder' http://purl.obolibrary.org/obo/MONDO_0015739 adult-onset nemaline myopathy 'adult-onset nemaline myopathy' SubClassOf 'qualitative or quantitative defects of alpha-actin' 'adult-onset nemaline myopathy' SubClassOf 'nemaline myopathy' 'adult-onset nemaline myopathy' SubClassOf 'qualitative or quantitative defects of nebulin' http://purl.obolibrary.org/obo/MONDO_0015738 childhood-onset nemaline myopathy 'childhood-onset nemaline myopathy' SubClassOf 'qualitative or quantitative defects of tropomyosin' 'childhood-onset nemaline myopathy' SubClassOf 'qualitative or quantitative defects of alpha-actin' 'childhood-onset nemaline myopathy' SubClassOf 'nemaline myopathy' 'childhood-onset nemaline myopathy' SubClassOf 'qualitative or quantitative defects of nebulin' http://purl.obolibrary.org/obo/MONDO_0015737 typical nemaline myopathy 'typical nemaline myopathy' SubClassOf 'nemaline myopathy' 'typical nemaline myopathy' SubClassOf 'qualitative or quantitative defects of tropomyosin' 'typical nemaline myopathy' SubClassOf 'congenital nervous system disorder' 'typical nemaline myopathy' SubClassOf 'congenital nemaline myopathy' 'typical nemaline myopathy' SubClassOf 'qualitative or quantitative defects of alpha-actin' 'typical nemaline myopathy' SubClassOf 'qualitative or quantitative defects of nebulin' http://purl.obolibrary.org/obo/MONDO_0015732 intermediate anorectal malformation 'intermediate anorectal malformation' SubClassOf 'isolated anorectal malformation' http://purl.obolibrary.org/obo/MONDO_0015731 high anorectal malformation 'high anorectal malformation' SubClassOf 'isolated anorectal malformation' http://purl.obolibrary.org/obo/MONDO_0015730 mosaic trisomy 17 'mosaic trisomy 17' SubClassOf 'chromosome 17 disorder' 'mosaic trisomy 17' SubClassOf 'total autosomal trisomy' 'mosaic trisomy 17' SubClassOf 'has modifier' some 'mosaic' 'mosaic trisomy 17' SubClassOf 'trisomy' http://purl.obolibrary.org/obo/MONDO_0015736 intermediate nemaline myopathy 'intermediate nemaline myopathy' SubClassOf 'qualitative or quantitative defects of alpha-actin' 'intermediate nemaline myopathy' SubClassOf 'qualitative or quantitative defects of tropomyosin' 'intermediate nemaline myopathy' SubClassOf 'nemaline myopathy' 'intermediate nemaline myopathy' SubClassOf 'congenital nervous system disorder' 'intermediate nemaline myopathy' SubClassOf 'qualitative or quantitative defects of nebulin' 'intermediate nemaline myopathy' SubClassOf 'congenital nemaline myopathy' http://purl.obolibrary.org/obo/MONDO_0015735 severe congenital nemaline myopathy 'severe congenital nemaline myopathy' SubClassOf 'congenital nervous system disorder' 'severe congenital nemaline myopathy' SubClassOf 'qualitative or quantitative defects of nebulin' 'severe congenital nemaline myopathy' SubClassOf 'qualitative or quantitative defects of alpha-actin' 'severe congenital nemaline myopathy' SubClassOf 'congenital nemaline myopathy' 'severe congenital nemaline myopathy' SubClassOf 'nemaline myopathy' http://purl.obolibrary.org/obo/MONDO_0015734 rectal duplication 'rectal duplication' SubClassOf 'anorectal malformation' http://purl.obolibrary.org/obo/MONDO_0015733 low anorectal malformation 'low anorectal malformation' SubClassOf 'isolated anorectal malformation' http://purl.obolibrary.org/obo/MONDO_0015749 6q16 deletion syndrome '6q16 deletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 6' '6q16 deletion syndrome' SubClassOf 'Prader-Willi-like syndrome' http://purl.obolibrary.org/obo/MONDO_0015741 distal trisomy 18q 'distal trisomy 18q' SubClassOf 'partial trisomy of the long arm of chromosome 18' http://purl.obolibrary.org/obo/MONDO_0015740 trisomy 18p 'trisomy 18p' SubClassOf 'partial trisomy/tetrasomy of the short arm of chromosome 18' http://purl.obolibrary.org/obo/MONDO_0015746 male infertility due to globozoospermia 'male infertility due to globozoospermia' SubClassOf 'male infertility with teratozoospermia due to single gene mutation' http://purl.obolibrary.org/obo/MONDO_0015745 microcephaly-polymicrogyria-corpus callosum agenesis syndrome 'microcephaly-polymicrogyria-corpus callosum agenesis syndrome' SubClassOf 'disorder of development or morphogenesis' 'microcephaly-polymicrogyria-corpus callosum agenesis syndrome' SubClassOf 'syndromic intellectual disability' 'microcephaly-polymicrogyria-corpus callosum agenesis syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0015744 distal trisomy 19q 'distal trisomy 19q' SubClassOf 'partial duplication of the long arm of chromosome 19' http://purl.obolibrary.org/obo/MONDO_0001115 familial polycythemia 'familial polycythemia' EquivalentTo 'polycythemia' and ('has modifier' some 'inherited') 'familial polycythemia' SubClassOf 'genetic disorder' 'familial polycythemia' SubClassOf 'polycythemia' http://purl.obolibrary.org/obo/MONDO_0015753 cap myopathy 'cap myopathy' SubClassOf 'alpha-actinopathy' 'cap myopathy' SubClassOf 'TPM3-related myopathy' 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 cataract' 'intellectual disability-cataracts-kyphosis syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0015751 craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome 'craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome' SubClassOf 'syndromic craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0015755 myopathy with hexagonally cross-linked tubular arrays 'myopathy with hexagonally cross-linked tubular arrays' SubClassOf 'congenital myopathy' http://purl.obolibrary.org/obo/MONDO_0015765 congenital myopathy with cores 'congenital myopathy with cores' SubClassOf 'congenital myopathy' http://purl.obolibrary.org/obo/MONDO_0015764 mosaic trisomy 20 'mosaic trisomy 20' SubClassOf 'total autosomal trisomy' 'mosaic trisomy 20' SubClassOf 'has modifier' some 'mosaic' 'mosaic trisomy 20' SubClassOf 'chromosome 20 trisomy' http://purl.obolibrary.org/obo/MONDO_0015763 mosaic trisomy 2 'mosaic trisomy 2' SubClassOf 'trisomy' 'mosaic trisomy 2' SubClassOf 'total autosomal trisomy' 'mosaic trisomy 2' SubClassOf 'chromosome 2 disorder' 'mosaic trisomy 2' SubClassOf 'has modifier' some 'mosaic' http://purl.obolibrary.org/obo/MONDO_0015762 progressive familial intrahepatic cholestasis 'progressive familial intrahepatic cholestasis' SubClassOf 'familial intrahepatic cholestasis' 'progressive familial intrahepatic cholestasis' SubClassOf 'inborn disorder of bilirubin metabolism' 'progressive familial intrahepatic cholestasis' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0015769 distal trisomy 6p 'distal trisomy 6p' SubClassOf 'partial duplication of the short arm of chromosome 6' http://purl.obolibrary.org/obo/MONDO_0015768 trisomy 5p 'trisomy 5p' SubClassOf 'partial trisomy/tetrasomy of the short arm of chromosome 5' 'trisomy 5p' SubClassOf 'overgrowth syndrome' http://purl.obolibrary.org/obo/MONDO_0015767 trisomy 4p 'trisomy 4p' SubClassOf 'partial duplication of the short arm of chromosome 4' http://purl.obolibrary.org/obo/MONDO_0015761 trisomy 10p 'trisomy 10p' SubClassOf 'partial duplication of the short arm of chromosome 10' http://purl.obolibrary.org/obo/MONDO_0015548 Huntington disease-like syndrome 'Huntington disease-like syndrome' SubClassOf 'Huntington disease and related disorders' 'Huntington disease-like syndrome' SubClassOf 'genetic dementia' http://purl.obolibrary.org/obo/MONDO_0015547 genetic dementia 'genetic dementia' EquivalentTo 'dementia' and ('has modifier' some 'inherited') 'genetic dementia' SubClassOf 'dementia' 'genetic dementia' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0015546 non-distal monosomy 10q 'non-distal monosomy 10q' SubClassOf 'partial monosomy of the long arm of chromosome 10' http://purl.obolibrary.org/obo/MONDO_0015541 genetic hemophagocytic lymphohistiocytosis 'genetic hemophagocytic lymphohistiocytosis' SubClassOf 'hemophagocytic syndrome' 'genetic hemophagocytic lymphohistiocytosis' EquivalentTo 'hemophagocytic syndrome' and ('has modifier' some 'inherited') 'genetic hemophagocytic lymphohistiocytosis' SubClassOf 'inborn errors of immunity' http://purl.obolibrary.org/obo/MONDO_0015553 dystrophic epidermolysis bullosa, nails only 'dystrophic epidermolysis bullosa, nails only' SubClassOf 'epidermolysis bullosa dystrophica' http://purl.obolibrary.org/obo/MONDO_0015552 acral dystrophic epidermolysis bullosa 'acral dystrophic epidermolysis bullosa' SubClassOf 'epidermolysis bullosa dystrophica' http://purl.obolibrary.org/obo/MONDO_0015551 basal epidermolysis bullosa simplex 'basal epidermolysis bullosa simplex' SubClassOf 'epidermolysis bullosa simplex' http://purl.obolibrary.org/obo/MONDO_0015550 suprabasal epidermolysis bullosa simplex 'suprabasal epidermolysis bullosa simplex' SubClassOf 'epidermolysis bullosa simplex' http://purl.obolibrary.org/obo/MONDO_0003582 hereditary breast ovarian cancer syndrome 'hereditary breast ovarian cancer syndrome' SubClassOf 'autosomal dominant disease' 'hereditary breast ovarian cancer syndrome' SubClassOf 'familial ovarian cancer' 'hereditary breast ovarian cancer syndrome' SubClassOf 'inherited disease susceptibility' 'hereditary breast ovarian cancer syndrome' SubClassOf 'malignant epithelial tumor of ovary' 'hereditary breast ovarian cancer syndrome' SubClassOf 'hereditary breast carcinoma' 'hereditary breast ovarian cancer syndrome' SubClassOf 'hereditary neoplastic syndrome' 'hereditary breast ovarian cancer syndrome' SubClassOf 'disease has feature' some 'ovarian carcinoma' 'hereditary breast ovarian cancer syndrome' SubClassOf 'disease has feature' some 'female breast carcinoma' http://purl.obolibrary.org/obo/MONDO_0015567 cataract-glaucoma syndrome 'cataract-glaucoma syndrome' SubClassOf 'syndromic cataract' 'cataract-glaucoma syndrome' SubClassOf 'developmental defect of the eye' http://purl.obolibrary.org/obo/MONDO_0015566 2q24 microdeletion syndrome '2q24 microdeletion syndrome' SubClassOf 'disease has major feature' some 'cataract' '2q24 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 2' http://purl.obolibrary.org/obo/MONDO_0015562 distal monosomy 17q 'distal monosomy 17q' SubClassOf 'partial deletion of the long arm of chromosome 17' http://purl.obolibrary.org/obo/MONDO_0015561 obsolete aleukemic mast cell leukemia 'obsolete aleukemic mast cell leukemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015579 Hb Bart's hydrops fetalis 'Hb Bart's hydrops fetalis' SubClassOf 'hydrops fetalis' 'Hb Bart's hydrops fetalis' SubClassOf 'alpha thalassemia' http://purl.obolibrary.org/obo/MONDO_0015571 deletion 5q35 'deletion 5q35' SubClassOf 'partial deletion of the long arm of chromosome 5' http://purl.obolibrary.org/obo/MONDO_0015587 rolandic epilepsy-speech dyspraxia syndrome 'rolandic epilepsy-speech dyspraxia syndrome' SubClassOf 'childhood-onset epilepsy syndrome' 'rolandic epilepsy-speech dyspraxia syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0015586 benign familial mesial temporal lobe epilepsy 'benign familial mesial temporal lobe epilepsy' SubClassOf 'familial partial epilepsy' http://purl.obolibrary.org/obo/MONDO_0015580 distal monosomy 7q36 'distal monosomy 7q36' SubClassOf 'partial deletion of the long arm of chromosome 7' http://purl.obolibrary.org/obo/MONDO_0015585 cryptogenic late-onset epileptic spasms 'cryptogenic late-onset epileptic spasms' SubClassOf 'childhood-onset epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0015583 2p21 microdeletion syndrome '2p21 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 2' http://purl.obolibrary.org/obo/MONDO_0015598 obsolete acrodermatitis continua suppurativa of Hallopeau 'obsolete acrodermatitis continua suppurativa of Hallopeau' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015597 pustulosis palmaris et plantaris 'pustulosis palmaris et plantaris' SubClassOf 'dermatitis' 'pustulosis palmaris et plantaris' SubClassOf 'epidermal disease' http://purl.obolibrary.org/obo/MONDO_0015607 partial chromosome Y deletion 'partial chromosome Y deletion' SubClassOf 'syndrome caused by partial chromosomal deletion' 'partial chromosome Y deletion' SubClassOf 'male infertility' 'partial chromosome Y deletion' SubClassOf 'chromosome Y disorder' 'partial chromosome Y deletion' SubClassOf 'genetic infertility' http://purl.obolibrary.org/obo/MONDO_0015606 Xp22.3 microdeletion syndrome 'Xp22.3 microdeletion syndrome' SubClassOf 'partial monosomy of the short arm of chromosome X' http://purl.obolibrary.org/obo/MONDO_0015605 distal monosomy 9p 'distal monosomy 9p' SubClassOf 'chromosome 9p deletion syndrome' 'distal monosomy 9p' SubClassOf '46,XY disorder of sex development' http://purl.obolibrary.org/obo/MONDO_0015609 advanced sleep phase syndrome 'advanced sleep phase syndrome' SubClassOf 'circadian rhythm sleep disorder' 'advanced sleep phase syndrome' SubClassOf 'genetic nervous system disorder' 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' 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' http://purl.obolibrary.org/obo/MONDO_0015617 genetic gastro-esophageal disease 'genetic gastro-esophageal disease' SubClassOf 'gastroesophageal disease' 'genetic gastro-esophageal disease' SubClassOf 'disease has feature' some 'inherited' 'genetic gastro-esophageal disease' EquivalentTo 'gastroesophageal disease' and ('disease has feature' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0015611 neutral lipid storage disease 'neutral lipid storage disease' SubClassOf 'lysosomal lipid storage disorder' 'neutral lipid storage disease' SubClassOf 'muscular lipidosis' 'neutral lipid storage disease' SubClassOf 'disorder of phospholipids, sphingolipids and fatty acids biosynthesis' http://purl.obolibrary.org/obo/MONDO_0015613 dentin dysplasia 'dentin dysplasia' SubClassOf 'tooth hard tissue disease' 'dentin dysplasia' SubClassOf 'hereditary dentin defect' http://purl.obolibrary.org/obo/MONDO_0015612 Dent disease 'Dent disease' SubClassOf 'inherited renal tubular disease' 'Dent disease' SubClassOf 'renal tubular transport disease' http://purl.obolibrary.org/obo/MONDO_0015629 von Willebrand disease type 2B 'von Willebrand disease type 2B' SubClassOf 'von Willebrand disease 2' http://purl.obolibrary.org/obo/MONDO_0015628 von Willebrand disease type 2A 'von Willebrand disease type 2A' SubClassOf 'von Willebrand disease 2' http://purl.obolibrary.org/obo/MONDO_0015627 multiple epiphyseal dysplasia due to collagen 9 anomaly 'multiple epiphyseal dysplasia due to collagen 9 anomaly' SubClassOf 'multiple epiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0015620 syndromic urogenital tract malformation 'syndromic urogenital tract malformation' SubClassOf 'urogenital tract malformation' 'syndromic urogenital tract malformation' SubClassOf 'syndromic disease' 'syndromic urogenital tract malformation' SubClassOf 'disease of genitourinary system' 'syndromic urogenital tract malformation' EquivalentTo 'urogenital tract malformation' and ('has modifier' some 'has a syndromic presentation') http://purl.obolibrary.org/obo/MONDO_0015626 Charcot-Marie-Tooth disease 'Charcot-Marie-Tooth disease' SubClassOf 'genetic peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0015625 diazoxide-resistant diffuse hyperinsulinism 'diazoxide-resistant diffuse hyperinsulinism' SubClassOf 'diazoxide-resistant hyperinsulinism' http://purl.obolibrary.org/obo/MONDO_0015624 diazoxide-sensitive diffuse hyperinsulinism 'diazoxide-sensitive diffuse hyperinsulinism' SubClassOf 'congenital isolated hyperinsulinism' http://purl.obolibrary.org/obo/MONDO_0003656 hemoglobinuria 'hemoglobinuria' SubClassOf 'kidney disease' http://purl.obolibrary.org/obo/MONDO_0015639 benign partial epilepsy with secondarily generalized seizures in infancy 'benign partial epilepsy with secondarily generalized seizures in infancy' SubClassOf 'benign non-familial infantile seizures' http://purl.obolibrary.org/obo/MONDO_0015638 benign partial epilepsy of infancy with complex partial seizures 'benign partial epilepsy of infancy with complex partial seizures' SubClassOf 'benign non-familial infantile seizures' http://purl.obolibrary.org/obo/MONDO_0015632 FASTKD2-related infantile mitochondrial encephalomyopathy 'FASTKD2-related infantile mitochondrial encephalomyopathy' SubClassOf 'neurometabolic disease' 'FASTKD2-related infantile mitochondrial encephalomyopathy' SubClassOf 'mitochondrial oxidative phosphorylation disorder' http://purl.obolibrary.org/obo/MONDO_0015631 von Willebrand disease type 2N 'von Willebrand disease type 2N' SubClassOf 'von Willebrand disease 2' http://purl.obolibrary.org/obo/MONDO_0015630 von Willebrand disease type 2M 'von Willebrand disease type 2M' SubClassOf 'von Willebrand disease 2' http://purl.obolibrary.org/obo/MONDO_0015637 benign non-familial infantile seizures 'benign non-familial infantile seizures' SubClassOf 'benign partial infantile seizures' http://purl.obolibrary.org/obo/MONDO_0015635 porokeratotic eccrine ostial and dermal duct nevus 'porokeratotic eccrine ostial and dermal duct nevus' SubClassOf 'has modifier' some 'rare' 'porokeratotic eccrine ostial and dermal duct nevus' SubClassOf 'benign eccrine neoplasm' 'porokeratotic eccrine ostial and dermal duct nevus' SubClassOf 'eccrine sweat gland hamartoma' 'porokeratotic eccrine ostial and dermal duct nevus' SubClassOf 'melanocytic nevus' http://purl.obolibrary.org/obo/MONDO_0015634 isolated osteopoikilosis 'isolated osteopoikilosis' SubClassOf 'has modifier' some 'has an isolated presentation' 'isolated osteopoikilosis' EquivalentTo 'osteopoikilosis' and ('has modifier' some 'has an isolated presentation') 'isolated osteopoikilosis' SubClassOf 'osteopoikilosis' 'isolated osteopoikilosis' SubClassOf 'Buschke-Ollendorff syndrome' http://purl.obolibrary.org/obo/MONDO_0015642 benign partial infantile seizures 'benign partial infantile seizures' SubClassOf 'infantile epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0015641 benign infantile focal epilepsy with midline spikes and wave during sleep 'benign infantile focal epilepsy with midline spikes and wave during sleep' SubClassOf 'benign partial infantile seizures' http://purl.obolibrary.org/obo/MONDO_0015640 benign infantile seizures associated with mild gastroenteritis 'benign infantile seizures associated with mild gastroenteritis' SubClassOf 'benign partial infantile seizures' http://purl.obolibrary.org/obo/MONDO_0015418 lateral facial cleft 'lateral facial cleft' SubClassOf 'facial cleft' 'lateral facial cleft' SubClassOf 'genetic head and neck malformation' http://purl.obolibrary.org/obo/MONDO_0015417 Tessier number 6 facial cleft 'Tessier number 6 facial cleft' SubClassOf 'oblique facial cleft' http://purl.obolibrary.org/obo/MONDO_0015416 Tessier number 5 facial cleft 'Tessier number 5 facial cleft' SubClassOf 'oblique facial cleft' http://purl.obolibrary.org/obo/MONDO_0015415 oblique facial cleft 'oblique facial cleft' SubClassOf 'facial cleft' http://purl.obolibrary.org/obo/MONDO_0015429 choroideremia-hypopituitarism syndrome 'choroideremia-hypopituitarism syndrome' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0015424 lethal chondrodysplasia, Moerman type 'lethal chondrodysplasia, Moerman type' SubClassOf 'lethal chondrodysplasia' http://purl.obolibrary.org/obo/MONDO_0015422 orofaciodigital syndrome type 13 'orofaciodigital syndrome type 13' SubClassOf 'orofaciodigital syndrome' http://purl.obolibrary.org/obo/MONDO_0015421 orofaciodigital syndrome type 12 'orofaciodigital syndrome type 12' SubClassOf 'orofaciodigital syndrome' http://purl.obolibrary.org/obo/MONDO_0015428 choroidal atrophy-alopecia syndrome 'choroidal atrophy-alopecia syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0015427 paroxysmal dyskinesia 'paroxysmal dyskinesia' SubClassOf 'paroxysmal dystonia' http://purl.obolibrary.org/obo/MONDO_0015426 Desbuquois dysplasia 'Desbuquois dysplasia' SubClassOf 'genetic disorder' 'Desbuquois dysplasia' SubClassOf 'developmental defect during embryogenesis' 'Desbuquois dysplasia' SubClassOf 'osteochondrodysplasia' http://purl.obolibrary.org/obo/MONDO_0015425 lethal recessive chondrodysplasia 'lethal recessive chondrodysplasia' SubClassOf 'lethal chondrodysplasia' 'lethal recessive chondrodysplasia' SubClassOf 'chondrodysplasia' http://purl.obolibrary.org/obo/MONDO_0015435 ring chromosome 19 'ring chromosome 19' SubClassOf 'chromosome 19 disorder' 'ring chromosome 19' SubClassOf 'ring chromosome disorder' http://purl.obolibrary.org/obo/MONDO_0015434 ring chromosome 18 'ring chromosome 18' SubClassOf 'ring chromosome disorder' 'ring chromosome 18' SubClassOf 'chromosome 18 disorder' http://purl.obolibrary.org/obo/MONDO_0015433 ring chromosome 17 'ring chromosome 17' SubClassOf 'ring chromosome disorder' 'ring chromosome 17' SubClassOf 'chromosome 17 disorder' http://purl.obolibrary.org/obo/MONDO_0015432 ring chromosome 12 'ring chromosome 12' SubClassOf 'ring chromosome disorder' 'ring chromosome 12' SubClassOf 'chromosome 12 disorder' http://purl.obolibrary.org/obo/MONDO_0015439 ring chromosome 4 'ring chromosome 4' SubClassOf 'ring chromosome disorder' 'ring chromosome 4' SubClassOf 'chromosome 4 disorder' http://purl.obolibrary.org/obo/MONDO_0015438 ring chromosome 22 'ring chromosome 22' SubClassOf 'chromosome 22 disorder' 'ring chromosome 22' SubClassOf 'ring chromosome disorder' http://purl.obolibrary.org/obo/MONDO_0015437 ring chromosome 21 'ring chromosome 21' SubClassOf 'ring chromosome disorder' 'ring chromosome 21' SubClassOf 'chromosome 21 disorder' http://purl.obolibrary.org/obo/MONDO_0015436 ring chromosome 20 'ring chromosome 20' SubClassOf 'chromosome 20 disorder' 'ring chromosome 20' SubClassOf 'ring chromosome disorder' 'ring chromosome 20' SubClassOf 'epilepsy' 'ring chromosome 20' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0015431 ring chromosome 10 'ring chromosome 10' SubClassOf 'chromosome 10 disorder' 'ring chromosome 10' SubClassOf 'genetic nervous system disorder' 'ring chromosome 10' SubClassOf 'syndromic intellectual disability' 'ring chromosome 10' SubClassOf 'ring chromosome disorder' http://purl.obolibrary.org/obo/MONDO_0015430 ring chromosome 1 'ring chromosome 1' SubClassOf 'chromosome 1 disorder' 'ring chromosome 1' SubClassOf 'ring chromosome disorder' http://purl.obolibrary.org/obo/MONDO_0015443 chromosome 8-derived supernumerary ring/marker 'chromosome 8-derived supernumerary ring/marker' SubClassOf 'ring chromosome disorder' 'chromosome 8-derived supernumerary ring/marker' SubClassOf 'chromosome 8 disorder' http://purl.obolibrary.org/obo/MONDO_0015448 mitochondrial complex III deficiency 'mitochondrial complex III deficiency' SubClassOf 'mitochondrial complex deficiency' 'mitochondrial complex III deficiency' SubClassOf 'isolated oxidative phosphorylation complex disorder' http://purl.obolibrary.org/obo/MONDO_0015441 ring chromosome 7 'ring chromosome 7' SubClassOf 'chromosome 7 disorder' 'ring chromosome 7' SubClassOf 'ring chromosome disorder' http://purl.obolibrary.org/obo/MONDO_0015440 ring chromosome 6 'ring chromosome 6' SubClassOf 'ring chromosome disorder' 'ring chromosome 6' SubClassOf 'chromosome 6 disorder' http://purl.obolibrary.org/obo/MONDO_0015454 multiple carboxylase deficiency 'multiple carboxylase deficiency' SubClassOf 'inborn carbohydrate metabolic disorder' 'multiple carboxylase deficiency' SubClassOf 'genetic skin disease' 'multiple carboxylase deficiency' SubClassOf 'has modifier' some 'rare' 'multiple carboxylase deficiency' SubClassOf 'classic organic aciduria' 'multiple carboxylase deficiency' SubClassOf 'inborn error of biotin metabolism' 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 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome' SubClassOf 'genetic nervous system disorder' 'intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' '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 'genetic nervous system disorder' 'Coffin-Siris syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Coffin-Siris syndrome' SubClassOf 'dysostosis of genetic origin' 'Coffin-Siris syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0015468 craniosynostosis-cataract syndrome 'craniosynostosis-cataract syndrome' SubClassOf 'syndromic craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0015467 craniosynostosis, Philadelphia type 'craniosynostosis, Philadelphia type' SubClassOf 'syndromic craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0015466 cranio-osteoarthropathy 'cranio-osteoarthropathy' SubClassOf 'primary hypertrophic osteoarthropathy' http://purl.obolibrary.org/obo/MONDO_0015465 craniometaphyseal dysplasia 'craniometaphyseal dysplasia' SubClassOf 'familial osteosclerosis' http://purl.obolibrary.org/obo/MONDO_0015469 craniosynostosis 'craniosynostosis' SubClassOf 'cranial malformation' 'craniosynostosis' SubClassOf 'dysostosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0015464 craniofrontonasal dysplasia-Poland anomaly syndrome 'craniofrontonasal dysplasia-Poland anomaly syndrome' SubClassOf 'syndromic breast hypoplasia/aplasia' 'craniofrontonasal dysplasia-Poland anomaly syndrome' SubClassOf 'frontonasal dysplasia' 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 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'craniodigital syndrome-intellectual disability syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0015462 thin ribs-tubular bones-dysmorphism syndrome 'thin ribs-tubular bones-dysmorphism syndrome' SubClassOf 'slender bone dysplasia' http://purl.obolibrary.org/obo/MONDO_0015461 short rib-polydactyly syndrome 'short rib-polydactyly syndrome' SubClassOf 'thoracic malformation' 'short rib-polydactyly syndrome' SubClassOf 'syndromic disease' 'short rib-polydactyly syndrome' SubClassOf 'short rib dysplasia' http://purl.obolibrary.org/obo/MONDO_0015470 familial isolated dilated cardiomyopathy 'familial isolated dilated cardiomyopathy' SubClassOf 'familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0015473 cryptorchidism-arachnodactyly-intellectual disability syndrome 'cryptorchidism-arachnodactyly-intellectual disability syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'cryptorchidism-arachnodactyly-intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'cryptorchidism-arachnodactyly-intellectual disability syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0015487 fatal infantile encephalocardiomyopathy 'fatal infantile encephalocardiomyopathy' SubClassOf 'familial cardiomyopathy' 'fatal infantile encephalocardiomyopathy' SubClassOf 'inborn mitochondrial myopathy' 'fatal infantile encephalocardiomyopathy' SubClassOf 'mitochondrial oxidative phosphorylation disorder' http://purl.obolibrary.org/obo/MONDO_0015482 otomandibular dysplasia 'otomandibular dysplasia' SubClassOf 'genetic head and neck malformation' 'otomandibular dysplasia' SubClassOf 'disorder of facial skeleton' 'otomandibular dysplasia' SubClassOf 'developmental defect during embryogenesis' 'otomandibular dysplasia' SubClassOf 'otorhinolaryngologic disease' http://purl.obolibrary.org/obo/MONDO_0015481 coloboma of inferior eyelid 'coloboma of inferior eyelid' SubClassOf 'oblique facial cleft' http://purl.obolibrary.org/obo/MONDO_0015480 coloboma of superior eyelid 'coloboma of superior eyelid' SubClassOf 'oblique facial cleft' http://purl.obolibrary.org/obo/MONDO_0015486 keratoconus 'keratoconus' SubClassOf 'genetic disorder' 'keratoconus' SubClassOf 'has modifier' some 'rare' 'keratoconus' SubClassOf 'corneal disease' http://purl.obolibrary.org/obo/MONDO_0015485 primary hereditary glaucoma 'primary hereditary glaucoma' SubClassOf 'hereditary glaucoma' http://purl.obolibrary.org/obo/MONDO_0015483 mandibulofacial dysostosis 'mandibulofacial dysostosis' SubClassOf 'otomandibular dysplasia' http://purl.obolibrary.org/obo/MONDO_0015499 paralytic facial malformation 'paralytic facial malformation' SubClassOf 'genetic head and neck malformation' 'paralytic facial malformation' SubClassOf 'disorder of facial skeleton' 'paralytic facial malformation' SubClassOf 'developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0015498 oromandibular-limb anomalies syndrome 'oromandibular-limb anomalies syndrome' SubClassOf 'hypoglossia/aglossia' http://purl.obolibrary.org/obo/MONDO_0015493 lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy 'lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy' SubClassOf 'genetic lipodystrophy' http://purl.obolibrary.org/obo/MONDO_0015497 hypoglossia/aglossia 'hypoglossia/aglossia' SubClassOf 'disorder of facial skeleton' 'hypoglossia/aglossia' SubClassOf 'genetic head and neck malformation' 'hypoglossia/aglossia' SubClassOf 'developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0015496 macroglossia 'macroglossia' SubClassOf 'disorder of facial skeleton' 'macroglossia' SubClassOf 'developmental defect during embryogenesis' 'macroglossia' SubClassOf 'genetic head and neck malformation' http://purl.obolibrary.org/obo/MONDO_0015494 isolated dystonia 'isolated dystonia' SubClassOf 'inherited dystonia' 'isolated dystonia' EquivalentTo 'dystonic disorder' and ('has modifier' some 'has an isolated presentation') 'isolated dystonia' SubClassOf 'has modifier' some 'has an isolated presentation' http://purl.obolibrary.org/obo/MONDO_0015509 genetic biliary tract disease 'genetic biliary tract disease' SubClassOf 'has modifier' some 'rare' 'genetic biliary tract disease' EquivalentTo 'biliary tract disease' and ('has modifier' some 'inherited') 'genetic biliary tract disease' SubClassOf 'liver disease' 'genetic biliary tract disease' SubClassOf 'biliary tract disease' 'genetic biliary tract disease' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0015508 genetic parenchymatous liver disease 'genetic parenchymatous liver disease' SubClassOf 'genetic disorder' 'genetic parenchymatous liver disease' SubClassOf 'has modifier' some 'rare' 'genetic parenchymatous liver disease' SubClassOf 'liver disease' http://purl.obolibrary.org/obo/MONDO_0015505 tracheal anomaly 'tracheal anomaly' SubClassOf 'developmental defect during embryogenesis' 'tracheal anomaly' SubClassOf 'otorhinolaryngologic disease' http://purl.obolibrary.org/obo/MONDO_0015504 larynx anomaly 'larynx anomaly' SubClassOf 'otorhinolaryngologic disease' 'larynx anomaly' SubClassOf 'developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0015519 congenital or early infantile CACH syndrome 'congenital or early infantile CACH syndrome' SubClassOf 'leukoencephalopathy with vanishing white matter' 'congenital or early infantile CACH syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0015518 infantile bilateral striatal necrosis 'infantile bilateral striatal necrosis' SubClassOf 'neurodegenerative disease' http://purl.obolibrary.org/obo/MONDO_0015517 common variable immunodeficiency 'common variable immunodeficiency' SubClassOf 'hereditary neoplastic syndrome' 'common variable immunodeficiency' SubClassOf 'syndromic agammaglobulinemia' http://purl.obolibrary.org/obo/MONDO_0015512 genetic hypertension 'genetic hypertension' SubClassOf 'has modifier' some 'rare' 'genetic hypertension' EquivalentTo 'hypertension' and ('has modifier' some 'inherited') 'genetic hypertension' SubClassOf 'kidney disease' 'genetic hypertension' SubClassOf 'genetic disorder' 'genetic hypertension' SubClassOf 'hypertension' http://purl.obolibrary.org/obo/MONDO_0015516 symbrachydactyly of hands and feet 'symbrachydactyly of hands and feet' SubClassOf 'non-syndromic brachydactyly' http://purl.obolibrary.org/obo/MONDO_0015515 carnitine palmitoyltransferase II deficiency 'carnitine palmitoyltransferase II deficiency' SubClassOf 'muscular lipidosis' 'carnitine palmitoyltransferase II deficiency' SubClassOf 'disorder of carnitine cycle and carnitine transport' http://purl.obolibrary.org/obo/MONDO_0015522 situs ambiguus 'situs ambiguus' SubClassOf 'genetic cardiac anomaly' 'situs ambiguus' SubClassOf 'visceral heterotaxy' http://purl.obolibrary.org/obo/MONDO_0015521 juvenile or adult CACH syndrome 'juvenile or adult CACH syndrome' SubClassOf 'leukoencephalopathy with vanishing white matter' http://purl.obolibrary.org/obo/MONDO_0015520 late infantile CACH syndrome 'late infantile CACH syndrome' SubClassOf 'leukoencephalopathy with vanishing white matter' http://purl.obolibrary.org/obo/MONDO_0015526 cold-induced sweating syndrome 'cold-induced sweating syndrome' SubClassOf 'cold-induced sweating syndrome - hyperthermia spectrum' http://purl.obolibrary.org/obo/MONDO_0015525 congenital pseudoarthrosis of the limbs 'congenital pseudoarthrosis of the limbs' SubClassOf 'non-syndromic limb malformation' 'congenital pseudoarthrosis of the limbs' SubClassOf 'dysostosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0015524 hyperplastic polyposis syndrome 'hyperplastic polyposis syndrome' SubClassOf 'genetic intestinal polyposis' 'hyperplastic polyposis syndrome' SubClassOf 'intestinal polyposis syndrome' http://purl.obolibrary.org/obo/MONDO_0017951 trichorhinophalangeal syndrome 'trichorhinophalangeal syndrome' SubClassOf 'acromelic dysplasia' 'trichorhinophalangeal syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0017953 hereditary periodic fever syndrome 'hereditary periodic fever syndrome' EquivalentTo 'periodic fever syndrome' and ('has modifier' some 'inherited') 'hereditary periodic fever syndrome' SubClassOf 'periodic fever syndrome' 'hereditary periodic fever syndrome' SubClassOf 'hereditary disorder of connective tissue' http://purl.obolibrary.org/obo/MONDO_0017950 microcephalic primordial dwarfism 'microcephalic primordial dwarfism' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'microcephalic primordial dwarfism' SubClassOf 'genetic nervous system disorder' 'microcephalic primordial dwarfism' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'microcephalic primordial dwarfism' SubClassOf 'syndromic intellectual disability' 'microcephalic primordial dwarfism' SubClassOf 'congenital nervous system disorder' 'microcephalic primordial dwarfism' SubClassOf 'slender bone dysplasia' http://purl.obolibrary.org/obo/MONDO_0030923 frontotemporal dementia and/or amyotrophic lateral sclerosis 'frontotemporal dementia and/or amyotrophic lateral sclerosis' SubClassOf 'inherited neurodegenerative disorder' http://purl.obolibrary.org/obo/MONDO_0015308 laminopathy type Decaudain-Vigouroux 'laminopathy type Decaudain-Vigouroux' SubClassOf 'diabetes mellitus' 'laminopathy type Decaudain-Vigouroux' SubClassOf 'has modifier' some 'rare' 'laminopathy type Decaudain-Vigouroux' SubClassOf 'hyperlipidemia' http://purl.obolibrary.org/obo/MONDO_0017966 46,XY disorder of gonadal development '46,XY disorder of gonadal development' SubClassOf 'has modifier' some 'rare' '46,XY disorder of gonadal development' SubClassOf '46,XY disorder of sex development' http://purl.obolibrary.org/obo/MONDO_0017967 testicular agenesis 'testicular agenesis' SubClassOf '46,XY disorder of gonadal development' 'testicular agenesis' SubClassOf 'male infertility' http://purl.obolibrary.org/obo/MONDO_0017968 46,XY ovotesticular disorder of sex development '46,XY ovotesticular disorder of sex development' SubClassOf '46,XY disorder of gonadal development' http://purl.obolibrary.org/obo/MONDO_0017969 46,XY disorder of sex development of endocrine origin '46,XY disorder of sex development of endocrine origin' SubClassOf '46,XY disorder of sex development' http://purl.obolibrary.org/obo/MONDO_0015300 cataract - microcornea syndrome 'cataract - microcornea syndrome' SubClassOf 'syndromic cataract' http://purl.obolibrary.org/obo/MONDO_0017962 46,XX disorder of sex development induced by fetoplacental androgens excess '46,XX disorder of sex development induced by fetoplacental androgens excess' SubClassOf 'has modifier' some 'rare' '46,XX disorder of sex development induced by fetoplacental androgens excess' SubClassOf 'female reproductive system disease' '46,XX disorder of sex development induced by fetoplacental androgens excess' SubClassOf '46,XX disorder of sex development induced by androgens excess' http://purl.obolibrary.org/obo/MONDO_0015307 Madras motor neuron disease 'Madras motor neuron disease' SubClassOf 'motor neuron disease' http://purl.obolibrary.org/obo/MONDO_0017961 46,XX disorder of gonadal development '46,XX disorder of gonadal development' SubClassOf '46,XX disorder of sex development' '46,XX disorder of gonadal development' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0017979 autoimmune lymphoproliferative syndrome 'autoimmune lymphoproliferative syndrome' SubClassOf 'type IV hypersensitivity disease' 'autoimmune lymphoproliferative syndrome' SubClassOf 'neoplastic syndrome' 'autoimmune lymphoproliferative syndrome' SubClassOf 'primary immunodeficiency due to a defect in adaptive immunity' 'autoimmune lymphoproliferative syndrome' SubClassOf 'lymphoproliferative syndrome' http://purl.obolibrary.org/obo/MONDO_0015311 autism-facial port-wine stain syndrome 'autism-facial port-wine stain syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0017973 non-classic congenital lipoid adrenal hyperplasia due to STAR deficency 'non-classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'male infertility' 'non-classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'has modifier' some 'congenital' 'non-classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'congenital lipoid adrenal hyperplasia due to STAR deficency' http://purl.obolibrary.org/obo/MONDO_0017975 sex chromosome disorder of sex development 'sex chromosome disorder of sex development' SubClassOf 'has modifier' some 'rare' 'sex chromosome disorder of sex development' SubClassOf 'difference of sexual differentiation' http://purl.obolibrary.org/obo/MONDO_0017972 classic congenital lipoid adrenal hyperplasia due to STAR deficency 'classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'has modifier' some 'congenital' 'classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'congenital lipoid adrenal hyperplasia due to STAR deficency' http://purl.obolibrary.org/obo/MONDO_0015310 syndromic optic nerve hypoplasia 'syndromic optic nerve hypoplasia' SubClassOf 'hereditary optic neuropathy' http://purl.obolibrary.org/obo/MONDO_0015325 cataract-deafness-hypogonadism syndrome 'cataract-deafness-hypogonadism syndrome' SubClassOf 'congenital nervous system disorder' 'cataract-deafness-hypogonadism syndrome' SubClassOf 'syndromic intellectual disability' 'cataract-deafness-hypogonadism syndrome' SubClassOf 'syndromic genetic hearing loss' 'cataract-deafness-hypogonadism syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'cataract-deafness-hypogonadism syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0015324 cataract-intellectual disability-anal atresia-urinary defects syndrome 'cataract-intellectual disability-anal atresia-urinary defects syndrome' SubClassOf 'genetic nervous system disorder' 'cataract-intellectual disability-anal atresia-urinary defects syndrome' SubClassOf 'syndromic anorectal malformation' 'cataract-intellectual disability-anal atresia-urinary defects syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'cataract-intellectual disability-anal atresia-urinary defects syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'cataract-intellectual disability-anal atresia-urinary defects syndrome' SubClassOf 'syndromic cataract' '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' http://purl.obolibrary.org/obo/MONDO_0017984 familial lambdoid synostosis 'familial lambdoid synostosis' SubClassOf 'isolated craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0015327 developmental anomaly of metabolic origin 'developmental anomaly of metabolic origin' SubClassOf 'developmental defect during embryogenesis' 'developmental anomaly of metabolic origin' SubClassOf 'metabolic disease' http://purl.obolibrary.org/obo/MONDO_0015326 night blindness-skeletal anomalies-dysmorphism syndrome 'night blindness-skeletal anomalies-dysmorphism syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0017980 syngnathia multiple anomalies 'syngnathia multiple anomalies' SubClassOf 'dysostosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0017981 syngnathia-cleft palate syndrome 'syngnathia-cleft palate syndrome' SubClassOf 'orofacial clefting syndrome' http://purl.obolibrary.org/obo/MONDO_0017983 humero-radio-ulnar synostosis 'humero-radio-ulnar synostosis' SubClassOf 'joint formation defects' http://purl.obolibrary.org/obo/MONDO_0017999 fatty acid hydroxylase-associated neurodegeneration 'fatty acid hydroxylase-associated neurodegeneration' SubClassOf 'disorder of phospholipids, sphingolipids and fatty acids biosynthesis' 'fatty acid hydroxylase-associated neurodegeneration' SubClassOf 'eye degenerative disorder' 'fatty acid hydroxylase-associated neurodegeneration' SubClassOf 'syndromic dyslipidemia' 'fatty acid hydroxylase-associated neurodegeneration' SubClassOf 'neurodegeneration with brain iron accumulation' 'fatty acid hydroxylase-associated neurodegeneration' SubClassOf 'syndromic hereditary optic neuropathy' 'fatty acid hydroxylase-associated neurodegeneration' SubClassOf 'facial paralysis' 'fatty acid hydroxylase-associated neurodegeneration' SubClassOf 'autosomal recessive complex spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0015335 orofacial clefting syndrome 'orofacial clefting syndrome' SubClassOf 'otorhinolaryngologic disease' 'orofacial clefting syndrome' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0015334 branchial arch or oral-acral syndrome 'branchial arch or oral-acral syndrome' SubClassOf 'developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0017995 spondylocostal dysostosis-hypospadias-intellectual disability syndrome 'spondylocostal dysostosis-hypospadias-intellectual disability syndrome' SubClassOf 'dysostosis of genetic origin' 'spondylocostal dysostosis-hypospadias-intellectual disability syndrome' SubClassOf 'genetic nervous system disorder' 'spondylocostal dysostosis-hypospadias-intellectual disability syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'spondylocostal dysostosis-hypospadias-intellectual disability syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic 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_0015339 adrenomyeloneuropathy 'adrenomyeloneuropathy' SubClassOf 'adrenoleukodystrophy' 'adrenomyeloneuropathy' SubClassOf 'genetic peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0015338 syndromic craniosynostosis 'syndromic craniosynostosis' EquivalentTo 'craniosynostosis' and ('has modifier' some 'has a syndromic presentation') 'syndromic craniosynostosis' SubClassOf 'craniosynostosis' 'syndromic craniosynostosis' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0017997 telecanthus-hypertelorism-strabismus-pes cavus syndrome 'telecanthus-hypertelorism-strabismus-pes cavus syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0015337 isolated craniosynostosis 'isolated craniosynostosis' SubClassOf 'has modifier' some 'has an isolated presentation' 'isolated craniosynostosis' SubClassOf 'craniosynostosis' 'isolated craniosynostosis' EquivalentTo 'craniosynostosis' and ('has modifier' some 'has an isolated presentation') http://purl.obolibrary.org/obo/MONDO_0017998 PLA2G6-associated neurodegeneration 'PLA2G6-associated neurodegeneration' SubClassOf 'neurodegeneration with brain iron accumulation' http://purl.obolibrary.org/obo/MONDO_0017994 severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency 'severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency' SubClassOf 'genetic non-syndromic obesity' http://purl.obolibrary.org/obo/MONDO_0015330 overgrowth/obesity syndrome 'overgrowth/obesity syndrome' SubClassOf 'developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0017990 catecholaminergic polymorphic ventricular tachycardia 'catecholaminergic polymorphic ventricular tachycardia' SubClassOf 'heart conduction disease' 'catecholaminergic polymorphic ventricular tachycardia' SubClassOf 'polymorphic ventricular tachycardia' 'catecholaminergic polymorphic ventricular tachycardia' SubClassOf 'ventricular tachycardia, familial' http://purl.obolibrary.org/obo/MONDO_0015349 progressive cavitating leukoencephalopathy 'progressive cavitating leukoencephalopathy' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0015348 leukoencephalopathy with bilateral anterior temporal lobe cysts 'leukoencephalopathy with bilateral anterior temporal lobe cysts' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0015358 hereditary motor and sensory neuropathy 'hereditary motor and sensory neuropathy' SubClassOf 'genetic peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0015356 hereditary neoplastic syndrome 'hereditary neoplastic syndrome' SubClassOf 'predisposes towards' some 'neoplasm' 'hereditary neoplastic syndrome' SubClassOf 'genetic disorder' 'hereditary neoplastic syndrome' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015355 distal hereditary motor neuropathy type 7 'distal hereditary motor neuropathy type 7' SubClassOf 'autosomal dominant distal hereditary motor neuropathy' http://purl.obolibrary.org/obo/MONDO_0015359 autosomal dominant hereditary demyelinating motor and sensory neuropathy 'autosomal dominant hereditary demyelinating motor and sensory neuropathy' SubClassOf 'autosomal dominant disease' 'autosomal dominant hereditary demyelinating motor and sensory neuropathy' SubClassOf 'demyelinating hereditary motor and sensory neuropathy' http://purl.obolibrary.org/obo/MONDO_0015350 17q11.2 microduplication syndrome '17q11.2 microduplication syndrome' SubClassOf 'partial duplication of the long arm of chromosome 17' http://purl.obolibrary.org/obo/MONDO_0015354 hereditary sensory and autonomic neuropathy with deafness and global delay 'hereditary sensory and autonomic neuropathy with deafness and global delay' SubClassOf 'autosomal recessive hereditary sensory and autonomic neuropathy' http://purl.obolibrary.org/obo/MONDO_0015353 neuronopathy, distal hereditary motor, type 5A 'neuronopathy, distal hereditary motor, type 5A' SubClassOf 'autosomal dominant distal hereditary motor neuropathy' 'neuronopathy, distal hereditary motor, type 5A' SubClassOf 'neuronopathy, distal hereditary motor, type 5' http://purl.obolibrary.org/obo/MONDO_0015352 distal hereditary motor neuropathy type 2 'distal hereditary motor neuropathy type 2' SubClassOf 'autosomal dominant distal hereditary motor neuropathy' http://purl.obolibrary.org/obo/MONDO_0015351 neuropathy with hearing impairment 'neuropathy with hearing impairment' SubClassOf 'autosomal dominant hereditary demyelinating motor and sensory neuropathy' 'neuropathy with hearing impairment' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0015369 Joubert syndrome and related disorders 'Joubert syndrome and related disorders' SubClassOf 'autosomal recessive congenital cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0015368 neuro-ophthalmological disease 'neuro-ophthalmological disease' SubClassOf 'has modifier' some 'rare' 'neuro-ophthalmological disease' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0015367 Charlie M syndrome 'Charlie M syndrome' SubClassOf 'oromandibular-limb hypogenesis syndrome' 'Charlie M syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Charlie M syndrome' SubClassOf 'branchial arch or oral-acral syndrome' http://purl.obolibrary.org/obo/MONDO_0015366 autosomal recessive hereditary sensory and autonomic neuropathy 'autosomal recessive hereditary sensory and autonomic neuropathy' SubClassOf 'autosomal recessive disease' 'autosomal recessive hereditary sensory and autonomic neuropathy' SubClassOf 'hereditary sensory and autonomic neuropathy' http://purl.obolibrary.org/obo/MONDO_0015361 autosomal recessive hereditary demyelinating motor and sensory neuropathy 'autosomal recessive hereditary demyelinating motor and sensory neuropathy' SubClassOf 'autosomal recessive disease' 'autosomal recessive hereditary demyelinating motor and sensory neuropathy' SubClassOf 'demyelinating hereditary motor and sensory neuropathy' http://purl.obolibrary.org/obo/MONDO_0015360 autosomal dominant hereditary axonal motor and sensory neuropathy 'autosomal dominant hereditary axonal motor and sensory neuropathy' SubClassOf 'autosomal dominant disease' 'autosomal dominant hereditary axonal motor and sensory neuropathy' SubClassOf 'axonal hereditary motor and sensory neuropathy' http://purl.obolibrary.org/obo/MONDO_0015365 autosomal dominant hereditary sensory and autonomic neuropathy 'autosomal dominant hereditary sensory and autonomic neuropathy' SubClassOf 'autosomal dominant disease' 'autosomal dominant hereditary sensory and autonomic neuropathy' SubClassOf 'hereditary sensory and autonomic neuropathy' http://purl.obolibrary.org/obo/MONDO_0015364 hereditary sensory and autonomic neuropathy 'hereditary sensory and autonomic neuropathy' SubClassOf 'sensory peripheral neuropathy' 'hereditary sensory and autonomic neuropathy' SubClassOf 'genetic peripheral neuropathy' 'hereditary sensory and autonomic neuropathy' EquivalentTo 'sensory peripheral neuropathy' and ('has modifier' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0015363 autosomal recessive distal hereditary motor neuropathy 'autosomal recessive distal hereditary motor neuropathy' SubClassOf 'autosomal recessive disease' 'autosomal recessive distal hereditary motor neuropathy' SubClassOf 'distal hereditary motor neuropathy' http://purl.obolibrary.org/obo/MONDO_0015362 autosomal dominant distal hereditary motor neuropathy 'autosomal dominant distal hereditary motor neuropathy' SubClassOf 'distal hereditary motor neuropathy' 'autosomal dominant distal hereditary motor neuropathy' SubClassOf 'spinal muscular atrophy' 'autosomal dominant distal hereditary motor neuropathy' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0015372 autosomal dominant macrothrombocytopenia 'autosomal dominant macrothrombocytopenia' SubClassOf 'isolated hereditary giant platelet disorder' http://purl.obolibrary.org/obo/MONDO_0015371 linear atrophoderma of Moulin 'linear atrophoderma of Moulin' SubClassOf 'dermis disorder' http://purl.obolibrary.org/obo/MONDO_0015375 orofaciodigital syndrome 'orofaciodigital syndrome' SubClassOf 'branchial arch or oral-acral syndrome' 'orofaciodigital syndrome' SubClassOf 'genetic disorder' 'orofaciodigital syndrome' SubClassOf 'oromandibular-limb anomalies syndrome' http://purl.obolibrary.org/obo/MONDO_0015374 primary central nervous system vasculitis 'primary central nervous system vasculitis' SubClassOf 'genetic central nervous system and retinal vascular disease' 'primary central nervous system vasculitis' SubClassOf 'predominantly medium-vessel vasculitis' http://purl.obolibrary.org/obo/MONDO_0015399 glossopalatine ankylosis 'glossopalatine ankylosis' SubClassOf 'oromandibular-limb hypogenesis syndrome' http://purl.obolibrary.org/obo/MONDO_0015394 nasal encephalocele 'nasal encephalocele' SubClassOf 'isolated encephalocele' 'nasal encephalocele' SubClassOf 'nose and cavum anomaly' http://purl.obolibrary.org/obo/MONDO_0015398 hemifacial microsomia 'hemifacial microsomia' SubClassOf 'oculo-auriculo-vertebral spectrum' http://purl.obolibrary.org/obo/MONDO_0015397 oculo-auriculo-vertebral spectrum 'oculo-auriculo-vertebral spectrum' SubClassOf 'genetic otorhinolaryngologic disease' 'oculo-auriculo-vertebral spectrum' SubClassOf 'neurocristopathy' 'oculo-auriculo-vertebral spectrum' SubClassOf 'oculoauriculovertebral spectrum with radial defects' 'oculo-auriculo-vertebral spectrum' SubClassOf 'otomandibular dysplasia' 'oculo-auriculo-vertebral spectrum' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0017838 sclerosteosis 'sclerosteosis' SubClassOf 'genetic disorder' 'sclerosteosis' SubClassOf 'hyperostosis' http://purl.obolibrary.org/obo/MONDO_0017839 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form 'classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form' SubClassOf 'classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' http://purl.obolibrary.org/obo/MONDO_0017836 erythrokeratoderma en cocardes 'erythrokeratoderma en cocardes' SubClassOf 'erythrokeratoderma' http://purl.obolibrary.org/obo/MONDO_0017837 multiple sclerosis-ichthyosis-factor VIII deficiency syndrome 'multiple sclerosis-ichthyosis-factor VIII deficiency syndrome' SubClassOf 'coagulation protein disease' 'multiple sclerosis-ichthyosis-factor VIII deficiency syndrome' SubClassOf 'hemorrhagic disease' 'multiple sclerosis-ichthyosis-factor VIII deficiency syndrome' SubClassOf 'autosomal ichthyosis syndrome' 'multiple sclerosis-ichthyosis-factor VIII deficiency syndrome' SubClassOf 'inherited blood coagulation disorder' http://purl.obolibrary.org/obo/MONDO_0017830 severe Canavan disease 'severe Canavan disease' SubClassOf 'Canavan disease' http://purl.obolibrary.org/obo/MONDO_0017831 mild Canavan disease 'mild Canavan disease' SubClassOf 'Canavan disease' http://purl.obolibrary.org/obo/MONDO_0017849 Siegler-Brewer-Carey syndrome 'Siegler-Brewer-Carey syndrome' SubClassOf 'has modifier' some 'rare' 'Siegler-Brewer-Carey syndrome' SubClassOf 'respiratory system disease' http://purl.obolibrary.org/obo/MONDO_0017845 spastic ataxia 'spastic ataxia' SubClassOf 'hereditary ataxia' http://purl.obolibrary.org/obo/MONDO_0017846 autosomal dominant spastic ataxia 'autosomal dominant spastic ataxia' SubClassOf 'spastic ataxia' 'autosomal dominant spastic ataxia' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0017847 autosomal recessive spastic ataxia 'autosomal recessive spastic ataxia' SubClassOf 'spastic ataxia' 'autosomal recessive spastic ataxia' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome 'Senior-Loken syndrome' SubClassOf 'retinal ciliopathy' 'Senior-Loken syndrome' SubClassOf 'autosomal recessive disease' 'Senior-Loken syndrome' SubClassOf 'inherited renal tubular disease' 'Senior-Loken syndrome' SubClassOf 'nephropathy-associated ciliopathy' 'Senior-Loken syndrome' SubClassOf 'inherited vitreous-retinal disease' http://purl.obolibrary.org/obo/MONDO_0017840 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form 'classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form' SubClassOf 'classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' http://purl.obolibrary.org/obo/MONDO_0017856 X-linked spasticity-intellectual disability-epilepsy syndrome 'X-linked spasticity-intellectual disability-epilepsy syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0017857 spina bifida-hypospadias syndrome 'spina bifida-hypospadias syndrome' SubClassOf 'syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0017852 infantile spasms-broad thumbs syndrome 'infantile spasms-broad thumbs syndrome' SubClassOf 'infantile epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0017855 T-B- severe combined immunodeficiency 'T-B- severe combined immunodeficiency' SubClassOf 'severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0017850 sirenomelia 'sirenomelia' SubClassOf 'familial caudal dysgenesis' http://purl.obolibrary.org/obo/MONDO_0017851 erythrokeratodermia variabilis 'erythrokeratodermia variabilis' SubClassOf 'inherited non-syndromic ichthyosis' 'erythrokeratodermia variabilis' SubClassOf 'erythrokeratoderma variabilis progressiva' 'erythrokeratodermia variabilis' SubClassOf 'isolated diffuse palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0015209 non-syndromic gastroduodenal malformation 'non-syndromic gastroduodenal malformation' EquivalentTo 'gastroduodenal malformation' and ('has modifier' some 'has an isolated presentation') 'non-syndromic gastroduodenal malformation' SubClassOf 'has modifier' some 'has an isolated presentation' 'non-syndromic gastroduodenal malformation' SubClassOf 'gastroduodenal malformation' http://purl.obolibrary.org/obo/MONDO_0015204 microlissencephaly 'microlissencephaly' SubClassOf 'lissencephaly spectrum disorders' 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 'chromosome 17p13.1 deletion syndrome' 'distal 17p13.1 microdeletion syndrome' SubClassOf 'congenital nervous system disorder' 'distal 17p13.1 microdeletion syndrome' SubClassOf 'genetic nervous system disorder' 'distal 17p13.1 microdeletion syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'distal 17p13.1 microdeletion syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0017868 diencephalic-mesencephalic junction dysplasia 'diencephalic-mesencephalic junction dysplasia' SubClassOf 'cerebral malformation' 'diencephalic-mesencephalic junction dysplasia' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0017869 chondroectodermal dysplasia with night blindness 'chondroectodermal dysplasia with night blindness' SubClassOf 'primary bone dysplasia' 'chondroectodermal dysplasia with night blindness' SubClassOf 'ectodermal dysplasia syndrome' 'chondroectodermal dysplasia with night blindness' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0015201 ankyloblepharon filiforme-imperforate anus syndrome 'ankyloblepharon filiforme-imperforate anus syndrome' SubClassOf 'syndromic anorectal malformation' 'ankyloblepharon filiforme-imperforate anus syndrome' SubClassOf 'syndromic ankyloblepharon' http://purl.obolibrary.org/obo/MONDO_0015208 syndromic esophageal malformation 'syndromic esophageal malformation' EquivalentTo 'esophageal malformation' and ('has modifier' some 'has a syndromic presentation') 'syndromic esophageal malformation' SubClassOf 'esophageal malformation' 'syndromic esophageal malformation' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0015207 non-syndromic esophageal malformation 'non-syndromic esophageal malformation' SubClassOf 'esophageal malformation' 'non-syndromic esophageal malformation' EquivalentTo 'esophageal malformation' and ('has modifier' some 'has an isolated presentation') 'non-syndromic esophageal malformation' SubClassOf 'has modifier' some 'has an isolated presentation' http://purl.obolibrary.org/obo/MONDO_0015206 short stature-heart defect-craniofacial anomalies syndrome 'short stature-heart defect-craniofacial anomalies syndrome' SubClassOf 'has modifier' some 'rare' 'short stature-heart defect-craniofacial anomalies syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0015205 isolated lissencephaly type 1 without known genetic defects 'isolated lissencephaly type 1 without known genetic defects' SubClassOf 'classic lissencephaly' http://purl.obolibrary.org/obo/MONDO_0015214 syndromic visceral malformation 'syndromic visceral malformation' SubClassOf 'visceral malformation of the liver, biliary tract, pancreas or spleen' http://purl.obolibrary.org/obo/MONDO_0015213 non-syndromic visceral malformation 'non-syndromic visceral malformation' SubClassOf 'visceral malformation of the liver, biliary tract, pancreas or spleen' http://purl.obolibrary.org/obo/MONDO_0015212 syndromic intestinal malformation 'syndromic intestinal malformation' SubClassOf 'syndromic disease' 'syndromic intestinal malformation' EquivalentTo 'intestinal malformation' and ('has modifier' some 'has a syndromic presentation') 'syndromic intestinal malformation' SubClassOf 'intestinal malformation' http://purl.obolibrary.org/obo/MONDO_0015219 non-syndromic central nervous system malformation 'non-syndromic central nervous system malformation' SubClassOf 'central nervous system malformation' 'non-syndromic central nervous system malformation' SubClassOf 'has modifier' some 'has an isolated presentation' 'non-syndromic central nervous system malformation' EquivalentTo 'central nervous system malformation' and ('has modifier' some 'has an isolated presentation') http://purl.obolibrary.org/obo/MONDO_0015217 non-syndromic developmental defect of the eye 'non-syndromic developmental defect of the eye' SubClassOf 'developmental defect of the eye' 'non-syndromic developmental defect of the eye' SubClassOf 'has modifier' some 'has an isolated presentation' 'non-syndromic developmental defect of the eye' EquivalentTo 'developmental defect of the eye' and ('has modifier' some 'has an isolated presentation') http://purl.obolibrary.org/obo/MONDO_0015211 non-syndromic intestinal malformation 'non-syndromic intestinal malformation' SubClassOf 'intestinal malformation' 'non-syndromic intestinal malformation' SubClassOf 'has modifier' some 'has an isolated presentation' 'non-syndromic intestinal malformation' EquivalentTo 'intestinal malformation' and ('has modifier' some 'has an isolated presentation') http://purl.obolibrary.org/obo/MONDO_0015210 syndromic gastroduodenal malformation 'syndromic gastroduodenal malformation' SubClassOf 'gastroduodenal malformation' 'syndromic gastroduodenal malformation' EquivalentTo 'gastroduodenal malformation' and ('has modifier' some 'has a syndromic presentation') 'syndromic gastroduodenal malformation' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0015225 arthrogryposis syndrome 'arthrogryposis syndrome' SubClassOf 'has modifier' some 'rare' 'arthrogryposis syndrome' SubClassOf 'congenital limb malformation' http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome 'Bardet-Biedl syndrome' SubClassOf 'autosomal recessive disease' 'Bardet-Biedl syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Bardet-Biedl syndrome' SubClassOf 'syndromic genetic obesity' 'Bardet-Biedl syndrome' SubClassOf 'retinal ciliopathy' 'Bardet-Biedl syndrome' SubClassOf 'intestinal motility disease' 'Bardet-Biedl syndrome' SubClassOf 'syndromic retinitis pigmentosa' 'Bardet-Biedl syndrome' SubClassOf 'familial cystic renal disease' 'Bardet-Biedl syndrome' SubClassOf 'congenital hypogonadotropic hypogonadism' 'Bardet-Biedl syndrome' SubClassOf 'nephropathy-associated ciliopathy' http://purl.obolibrary.org/obo/MONDO_0015228 pentasomy X 'pentasomy X' SubClassOf 'syndromic disease' 'pentasomy X' SubClassOf 'pentasomy' 'pentasomy X' SubClassOf 'chromosome X disorder' http://purl.obolibrary.org/obo/MONDO_0015227 non-syndromic limb malformation 'non-syndromic limb malformation' SubClassOf 'congenital limb malformation' 'non-syndromic limb malformation' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015221 non-syndromic respiratory or mediastinal malformation 'non-syndromic respiratory or mediastinal malformation' SubClassOf 'has modifier' some 'rare' 'non-syndromic respiratory or mediastinal malformation' SubClassOf 'respiratory or mediastinal malformation' 'non-syndromic respiratory or mediastinal malformation' SubClassOf 'has modifier' some 'has an isolated presentation' 'non-syndromic respiratory or mediastinal malformation' EquivalentTo 'respiratory or mediastinal malformation' and ('has modifier' some 'has an isolated presentation') http://purl.obolibrary.org/obo/MONDO_0015235 arachnodactyly-intellectual disability-dysmorphism syndrome 'arachnodactyly-intellectual disability-dysmorphism syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0015234 arachnodactyly-abnormal ossification-intellectual disability syndrome 'arachnodactyly-abnormal ossification-intellectual disability syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '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_0017896 familial nonmedullary thyroid carcinoma 'familial nonmedullary thyroid carcinoma' SubClassOf 'genetic disorder' 'familial nonmedullary thyroid carcinoma' SubClassOf 'thyroid carcinoma' 'familial nonmedullary thyroid carcinoma' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015238 arrhinia-choanal atresia-microphthalmia syndrome 'arrhinia-choanal atresia-microphthalmia syndrome' SubClassOf 'nose and cavum anomaly' 'arrhinia-choanal atresia-microphthalmia syndrome' SubClassOf 'genetic otorhinolaryngological malformation' 'arrhinia-choanal atresia-microphthalmia syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0017892 autosomal recessive myogenic arthrogryposis multiplex congenita 'autosomal recessive myogenic arthrogryposis multiplex congenita' SubClassOf 'genetic nervous system disorder' 'autosomal recessive myogenic arthrogryposis multiplex congenita' SubClassOf 'arthrogryposis multiplex congenita' 'autosomal recessive myogenic arthrogryposis multiplex congenita' SubClassOf 'congenital muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0017893 inherited acute myeloid leukemia 'inherited acute myeloid leukemia' SubClassOf 'myeloproliferative disorder' 'inherited acute myeloid leukemia' EquivalentTo 'acute myeloid leukemia' and ('has modifier' some 'inherited') 'inherited acute myeloid leukemia' SubClassOf 'myeloid leukemia' 'inherited acute myeloid leukemia' SubClassOf 'hereditary disorder of connective tissue' 'inherited acute myeloid leukemia' SubClassOf 'Acute Leukemia' http://purl.obolibrary.org/obo/MONDO_0017894 acute myeloid leukemia with CEBPA somatic mutations 'acute myeloid leukemia with CEBPA somatic mutations' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia with CEBPA somatic mutations' SubClassOf 'inherited acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0017895 familial papillary or follicular thyroid carcinoma 'familial papillary or follicular thyroid carcinoma' SubClassOf 'differentiated thyroid carcinoma' 'familial papillary or follicular thyroid carcinoma' SubClassOf 'familial nonmedullary thyroid carcinoma' http://purl.obolibrary.org/obo/MONDO_0015233 caudal appendage-deafness syndrome 'caudal appendage-deafness syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'caudal appendage-deafness syndrome' SubClassOf 'congenital nervous system disorder' 'caudal appendage-deafness syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'caudal appendage-deafness syndrome' SubClassOf 'syndromic intellectual disability' 'caudal appendage-deafness syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0015232 radial deficiency-tibial hypoplasia syndrome 'radial deficiency-tibial hypoplasia syndrome' SubClassOf 'dysostosis of genetic origin' 'radial deficiency-tibial hypoplasia syndrome' SubClassOf 'congenital limb malformation' http://purl.obolibrary.org/obo/MONDO_0015231 Bartter syndrome 'Bartter syndrome' SubClassOf 'syndromic disease' 'Bartter syndrome' SubClassOf 'renal tubular transport disease' 'Bartter syndrome' SubClassOf 'inherited renal tubular disease' http://purl.obolibrary.org/obo/MONDO_0017891 inherited renal cancer-predisposing syndrome 'inherited renal cancer-predisposing syndrome' SubClassOf 'kidney disease' 'inherited renal cancer-predisposing syndrome' SubClassOf 'hereditary neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0015230 anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome 'anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome' SubClassOf 'syndromic disease' 'anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0015246 syndromic anorectal malformation 'syndromic anorectal malformation' EquivalentTo 'anorectal malformation' and ('has modifier' some 'has a syndromic presentation') 'syndromic anorectal malformation' SubClassOf 'syndromic disease' 'syndromic anorectal malformation' SubClassOf 'anorectal malformation' http://purl.obolibrary.org/obo/MONDO_0015240 digitotalar dysmorphism 'digitotalar dysmorphism' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'digitotalar dysmorphism' SubClassOf 'distal arthrogryposis' http://purl.obolibrary.org/obo/MONDO_0015244 autosomal recessive cerebellar ataxia 'autosomal recessive cerebellar ataxia' SubClassOf 'autosomal recessive disease' 'autosomal recessive cerebellar ataxia' SubClassOf 'hereditary cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0015241 arthrogryposis-like syndrome 'arthrogryposis-like syndrome' SubClassOf 'arthrogryposis multiplex congenita' 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 'multiple congenital anomalies/dysmorphic syndrome-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' http://purl.obolibrary.org/obo/MONDO_0015256 blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome 'blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome' SubClassOf 'disorder of development or morphogenesis' 'blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015250 spinal atrophy-ophthalmoplegia-pyramidal syndrome 'spinal atrophy-ophthalmoplegia-pyramidal syndrome' SubClassOf 'generalized bulbospinal muscular atrophy' http://purl.obolibrary.org/obo/MONDO_0015255 blepharophimosis-radioulnar synostosis syndrome 'blepharophimosis-radioulnar synostosis syndrome' SubClassOf 'congenital limb malformation' 'blepharophimosis-radioulnar synostosis syndrome' SubClassOf 'dysostosis of genetic origin' 'blepharophimosis-radioulnar synostosis syndrome' SubClassOf 'eyelids malposition disorder' http://purl.obolibrary.org/obo/MONDO_0015253 Diamond-Blackfan anemia 'Diamond-Blackfan anemia' SubClassOf 'pure red-cell aplasia' 'Diamond-Blackfan anemia' SubClassOf 'inherited aplastic anemia' http://purl.obolibrary.org/obo/MONDO_0015268 medullary sponge kidney 'medullary sponge kidney' SubClassOf 'Cystic Kidney Disease' 'medullary sponge kidney' SubClassOf 'non-syndromic renal or urinary tract malformation' http://purl.obolibrary.org/obo/MONDO_0015267 Feingold syndrome 'Feingold syndrome' SubClassOf 'syndromic gastroduodenal malformation' 'Feingold syndrome' SubClassOf 'syndromic esophageal malformation' 'Feingold syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Feingold syndrome' SubClassOf 'intellectual disability, autosomal dominant' 'Feingold syndrome' SubClassOf 'congenital limb malformation' 'Feingold syndrome' SubClassOf 'syndromic respiratory or mediastinal malformation' 'Feingold syndrome' SubClassOf 'dysostosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0015262 brachyolmia 'brachyolmia' SubClassOf 'osteochondrodysplasia' 'brachyolmia' SubClassOf 'spondylodysplastic dysplasia' http://purl.obolibrary.org/obo/MONDO_0015263 Brugada syndrome 'Brugada syndrome' SubClassOf 'syndromic disease' 'Brugada syndrome' SubClassOf 'heart conduction disease' 'Brugada syndrome' SubClassOf 'genetic cardiac rhythm disease' http://purl.obolibrary.org/obo/MONDO_0015280 cardiofaciocutaneous syndrome 'cardiofaciocutaneous syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'cardiofaciocutaneous syndrome' SubClassOf 'Noonan syndrome and Noonan-related syndrome' 'cardiofaciocutaneous syndrome' SubClassOf 'syndromic intellectual disability' 'cardiofaciocutaneous syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'cardiofaciocutaneous syndrome' SubClassOf 'congenital nervous system disorder' 'cardiofaciocutaneous syndrome' SubClassOf 'genetic nervous system disorder' 'cardiofaciocutaneous syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0015279 chronic mucocutaneous candidiasis 'chronic mucocutaneous candidiasis' SubClassOf 'immune system disease' 'chronic mucocutaneous candidiasis' SubClassOf 'genetic skin disease' 'chronic mucocutaneous candidiasis' SubClassOf 'predisposes towards' some 'candidiasis' 'chronic mucocutaneous candidiasis' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'candidiasis') 'chronic mucocutaneous candidiasis' SubClassOf 'has modifier' some 'rare' 'chronic mucocutaneous candidiasis' SubClassOf 'hereditary predisposition to infections' http://purl.obolibrary.org/obo/MONDO_0015278 familial pancreatic carcinoma 'familial pancreatic carcinoma' SubClassOf 'pancreatic carcinoma' 'familial pancreatic carcinoma' EquivalentTo 'pancreatic carcinoma' and ('has modifier' some 'inherited') 'familial pancreatic carcinoma' SubClassOf 'has modifier' some 'rare' 'familial pancreatic carcinoma' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0015272 camptodactyly-taurinuria syndrome 'camptodactyly-taurinuria syndrome' SubClassOf 'congenital limb malformation' 'camptodactyly-taurinuria syndrome' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015270 butyrylcholinesterase deficiency 'butyrylcholinesterase deficiency' SubClassOf 'metabolic disease involving other neurotransmitter deficiency' http://purl.obolibrary.org/obo/MONDO_0015284 heart-hand syndrome type 2 'heart-hand syndrome type 2' SubClassOf 'genetic cardiac rhythm disease' 'heart-hand syndrome type 2' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'heart-hand syndrome type 2' SubClassOf 'heart-hand syndrome' http://purl.obolibrary.org/obo/MONDO_0015283 maternally-inherited cardiomyopathy and hearing loss 'maternally-inherited cardiomyopathy and hearing loss' SubClassOf 'mitochondrial disease' http://purl.obolibrary.org/obo/MONDO_0015282 cardiomyopathy-cataract-hip spine disease syndrome 'cardiomyopathy-cataract-hip spine disease syndrome' SubClassOf 'disease has major feature' some 'articular cartilage disorder' 'cardiomyopathy-cataract-hip spine disease syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0015281 atrial standstill 'atrial standstill' SubClassOf 'genetic cardiac rhythm disease' 'atrial standstill' SubClassOf 'familial restrictive cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0015286 congenital disorder of glycosylation 'congenital disorder of glycosylation' SubClassOf 'has modifier' some 'congenital' 'congenital disorder of glycosylation' SubClassOf 'disorder of glycosylation' 'congenital disorder of glycosylation' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0015285 Carney complex 'Carney complex' SubClassOf 'autosomal dominant disease' 'Carney complex' SubClassOf 'disease has feature' some 'inherited cardiac tumor' 'Carney complex' SubClassOf 'disease has feature' some 'palpebral lentiginosis' 'Carney complex' SubClassOf 'disease has feature' some 'multiple polyglandular tumor' 'Carney complex' SubClassOf 'disease has feature' some 'mesenchymatous palpebral tumor' 'Carney complex' SubClassOf 'disease has feature' some 'adrenal/paraganglial tumor' 'Carney complex' SubClassOf 'disease has feature' some 'hyperpigmentation of the skin' http://purl.obolibrary.org/obo/MONDO_0015295 intractable diarrhea-choanal atresia-eye anomalies syndrome 'intractable diarrhea-choanal atresia-eye anomalies syndrome' SubClassOf 'genetic otorhinolaryngological malformation' 'intractable diarrhea-choanal atresia-eye anomalies syndrome' SubClassOf 'intractable diarrhea of infancy' 'intractable diarrhea-choanal atresia-eye anomalies syndrome' SubClassOf 'nose and cavum anomaly' http://purl.obolibrary.org/obo/MONDO_0015293 segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome 'segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome' SubClassOf 'vascular neoplasm' 'segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome' SubClassOf 'overgrowth syndrome' 'segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome' SubClassOf 'PTEN hamartoma tumor syndrome' 'segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome' SubClassOf 'inherited skin tumor' 'segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome' SubClassOf 'melanocytic nevus' 'segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome' SubClassOf 'cardiovascular organ benign neoplasm' 'segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome' SubClassOf 'genetic vascular anomaly' http://purl.obolibrary.org/obo/MONDO_0015296 cardiac anomalies-heterotaxy syndrome 'cardiac anomalies-heterotaxy syndrome' SubClassOf 'heart disease' http://purl.obolibrary.org/obo/MONDO_0017909 inherited glutathione synthetase deficiency 'inherited glutathione synthetase deficiency' SubClassOf 'defective phagocytic cell engulfment' 'inherited glutathione synthetase deficiency' SubClassOf 'inherited glutathione metabolism disease' http://purl.obolibrary.org/obo/MONDO_0017904 steroid dehydrogenase deficiency-dental anomalies syndrome 'steroid dehydrogenase deficiency-dental anomalies syndrome' SubClassOf 'disorder of development or morphogenesis' 'steroid dehydrogenase deficiency-dental anomalies syndrome' SubClassOf 'metabolic disease' 'steroid dehydrogenase deficiency-dental anomalies syndrome' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0017905 X-linked mendelian susceptibility to mycobacterial diseases 'X-linked mendelian susceptibility to mycobacterial diseases' SubClassOf 'inherited susceptibility to mycobacterial diseases' http://purl.obolibrary.org/obo/MONDO_0017906 amyloidosis cutis dyschromia 'amyloidosis cutis dyschromia' SubClassOf 'primary cutaneous amyloidosis' http://purl.obolibrary.org/obo/MONDO_0017900 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency 'autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency' SubClassOf 'mycobacterial infectious disease' 'autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency' SubClassOf 'immunodeficiency 28' 'autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency' SubClassOf 'inherited susceptibility to mycobacterial diseases' http://purl.obolibrary.org/obo/MONDO_0017901 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency 'autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency' SubClassOf 'immunodeficiency 27A' http://purl.obolibrary.org/obo/MONDO_0017902 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency 'autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency' SubClassOf 'immunodeficiency 28' http://purl.obolibrary.org/obo/MONDO_0017903 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency 'autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency' SubClassOf 'inherited susceptibility to mycobacterial diseases' http://purl.obolibrary.org/obo/MONDO_0017919 exstrophy-epispadias complex 'exstrophy-epispadias complex' SubClassOf 'kidney disease' 'exstrophy-epispadias complex' SubClassOf 'urogenital tract malformation' 'exstrophy-epispadias complex' SubClassOf 'diaphragmatic or abdominal wall malformation' http://purl.obolibrary.org/obo/MONDO_0017915 pure or complex autosomal recessive spastic paraplegia 'pure or complex autosomal recessive spastic paraplegia' SubClassOf 'pure or complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0017916 pure or complex X-linked spastic paraplegia 'pure or complex X-linked spastic paraplegia' SubClassOf 'pure or complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0017917 maternally-inherited spastic paraplegia 'maternally-inherited spastic paraplegia' SubClassOf 'complex hereditary spastic paraplegia' 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 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0017912 X-linked pure spastic paraplegia 'X-linked pure spastic paraplegia' SubClassOf 'pure hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0017913 pure or complex hereditary spastic paraplegia 'pure or complex hereditary spastic paraplegia' SubClassOf 'hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0017914 pure or complex autosomal dominant spastic paraplegia 'pure or complex autosomal dominant spastic paraplegia' SubClassOf 'pure or complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0017910 dehydrated hereditary stomatocytosis 'dehydrated hereditary stomatocytosis' SubClassOf 'hereditary stomatocytosis' http://purl.obolibrary.org/obo/MONDO_0017927 severe lateral tibial bowing with short stature 'severe lateral tibial bowing with short stature' SubClassOf 'bent bone dysplasia' http://purl.obolibrary.org/obo/MONDO_0017928 9p13 microdeletion syndrome '9p13 microdeletion syndrome' SubClassOf 'chromosome 9p deletion syndrome' '9p13 microdeletion syndrome' SubClassOf 'syndromic intellectual disability' '9p13 microdeletion syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0017929 congenital achiasma 'congenital achiasma' SubClassOf 'congenital nervous system disorder' 'congenital achiasma' SubClassOf 'cranial nerve and nuclear aplasia' http://purl.obolibrary.org/obo/MONDO_0017922 deafness-onychodystrophy syndrome 'deafness-onychodystrophy syndrome' SubClassOf 'syndromic intellectual disability' 'deafness-onychodystrophy syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'deafness-onychodystrophy syndrome' SubClassOf 'syndromic nail anomaly' 'deafness-onychodystrophy syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0017923 multiple synostoses syndrome 'multiple synostoses syndrome' SubClassOf 'congenital nervous system disorder' 'multiple synostoses syndrome' SubClassOf 'congenital limb malformation' 'multiple synostoses syndrome' SubClassOf 'dysostosis of genetic origin' 'multiple synostoses syndrome' SubClassOf 'syndromic genetic hearing loss' 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' 'central nervous system calcification-deafness-tubular acidosis-anemia syndrome' SubClassOf 'primary renal tubular acidosis' 'central nervous system calcification-deafness-tubular acidosis-anemia syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0017925 T-cell immunodeficiency with epidermodysplasia verruciformis 'T-cell immunodeficiency with epidermodysplasia verruciformis' SubClassOf 'primary immunodeficiency due to a genetic defect in innate immunity' 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 'genetic multiple congenital anomalies/dysmorphic syndrome' 'deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome' SubClassOf 'congenital nervous system disorder' 'deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome' SubClassOf 'syndromic genetic hearing loss' 'deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome' SubClassOf 'syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0017921 hearing loss-familial salivary gland insensitivity to aldosterone syndrome 'hearing loss-familial salivary gland insensitivity to aldosterone syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0017937 autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain 'autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain' SubClassOf 'autosomal dominant intermediate Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0017939 classic multiminicore myopathy 'classic multiminicore myopathy' SubClassOf 'TTN-related myopathy' 'classic multiminicore myopathy' SubClassOf 'multiminicore myopathy' http://purl.obolibrary.org/obo/MONDO_0017933 hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation 'hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation' SubClassOf 'primary renal tubular acidosis' 'hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation' SubClassOf 'mitochondrial oxidative phosphorylation 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 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0017935 hyperinsulinism due to HNF1A deficiency 'hyperinsulinism due to HNF1A deficiency' SubClassOf 'diazoxide-sensitive diffuse hyperinsulinism' http://purl.obolibrary.org/obo/MONDO_0017936 benign Samaritan congenital myopathy 'benign Samaritan congenital myopathy' SubClassOf 'congenital myopathy' http://purl.obolibrary.org/obo/MONDO_0017930 mixed sclerosing bone dystrophy with extra-skeletal manifestations 'mixed sclerosing bone dystrophy with extra-skeletal manifestations' SubClassOf 'bone disease' http://purl.obolibrary.org/obo/MONDO_0017931 hereditary inclusion body myopathy type 4 'hereditary inclusion body myopathy type 4' SubClassOf 'inclusion myopathy' http://purl.obolibrary.org/obo/MONDO_0017932 muscular hypertrophy-hepatomegaly-polyhydramnios syndrome 'muscular hypertrophy-hepatomegaly-polyhydramnios syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0017948 ABetaA21G amyloidosis 'ABetaA21G amyloidosis' SubClassOf 'cerebral amyloid angiopathy, APP-related' http://purl.obolibrary.org/obo/MONDO_0017949 ABeta amyloidosis, Arctic type 'ABeta amyloidosis, Arctic type' SubClassOf 'cerebral amyloid angiopathy, APP-related' http://purl.obolibrary.org/obo/MONDO_0017945 ABetaL34V amyloidosis 'ABetaL34V amyloidosis' SubClassOf 'cerebral amyloid angiopathy, APP-related' http://purl.obolibrary.org/obo/MONDO_0017946 ABeta amyloidosis, Iowa type 'ABeta amyloidosis, Iowa type' SubClassOf 'cerebral amyloid angiopathy, APP-related' http://purl.obolibrary.org/obo/MONDO_0017947 ABeta amyloidosis, Italian type 'ABeta amyloidosis, Italian type' SubClassOf 'cerebral amyloid angiopathy, APP-related' http://purl.obolibrary.org/obo/MONDO_0017940 autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation 'autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://purl.obolibrary.org/obo/MONDO_0017719 gangliosidosis 'gangliosidosis' SubClassOf 'sphingolipidosis' http://purl.obolibrary.org/obo/MONDO_0017714 acyl-CoA dehydrogenase deficiency 'acyl-CoA dehydrogenase deficiency' SubClassOf 'disorder of fatty acid oxidation and ketogenesis' http://purl.obolibrary.org/obo/MONDO_0017715 3-hydroxyacyl-CoA dehydrogenase deficiency '3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'disorder of fatty acid oxidation and ketogenesis' http://purl.obolibrary.org/obo/MONDO_0017716 disorder of carnitine cycle and carnitine transport 'disorder of carnitine cycle and carnitine transport' SubClassOf 'inborn disorder of fatty acid oxidation and ketone body metabolism' http://purl.obolibrary.org/obo/MONDO_0017711 pancreatic colipase deficiency 'pancreatic colipase deficiency' SubClassOf 'pancreatic triacylglycerol lipase deficiency' http://purl.obolibrary.org/obo/MONDO_0017712 combined pancreatic lipase-colipase deficiency 'combined pancreatic lipase-colipase deficiency' SubClassOf 'pancreatic triacylglycerol lipase deficiency' http://purl.obolibrary.org/obo/MONDO_0017728 Tay-Sachs disease, B1 variant 'Tay-Sachs disease, B1 variant' SubClassOf 'Tay-Sachs disease' http://purl.obolibrary.org/obo/MONDO_0017729 metachromatic leukodystrophy, late infantile form 'metachromatic leukodystrophy, late infantile form' SubClassOf 'metachromatic leukodystrophy, juvenile form' http://purl.obolibrary.org/obo/MONDO_0017724 Tay-Sachs disease, b variant, infantile form 'Tay-Sachs disease, b variant, infantile form' SubClassOf 'Tay-Sachs disease' http://purl.obolibrary.org/obo/MONDO_0017725 Tay-Sachs disease, b variant, juvenile form 'Tay-Sachs disease, b variant, juvenile form' SubClassOf 'Tay-Sachs disease' http://purl.obolibrary.org/obo/MONDO_0017726 Tay-Sachs disease, b variant, adult form 'Tay-Sachs disease, b variant, adult form' SubClassOf 'Tay-Sachs disease' http://purl.obolibrary.org/obo/MONDO_0017720 GM2 gangliosidosis 'GM2 gangliosidosis' SubClassOf 'neurometabolic disease' 'GM2 gangliosidosis' SubClassOf 'inherited neurodegenerative disorder' 'GM2 gangliosidosis' SubClassOf 'gangliosidosis' http://purl.obolibrary.org/obo/MONDO_0017721 Sandhoff disease, infantile form 'Sandhoff disease, infantile form' SubClassOf 'Sandhoff disease' http://purl.obolibrary.org/obo/MONDO_0017722 Sandhoff disease, juvenile form 'Sandhoff disease, juvenile form' SubClassOf 'Sandhoff disease' http://purl.obolibrary.org/obo/MONDO_0017723 Sandhoff disease, adult form 'Sandhoff disease, adult form' SubClassOf 'Sandhoff disease' http://purl.obolibrary.org/obo/MONDO_0017739 disorder of lysosomal-related organelles 'disorder of lysosomal-related organelles' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0017736 disorder of sialic acid metabolism 'disorder of sialic acid metabolism' SubClassOf 'lysosomal storage disease' http://purl.obolibrary.org/obo/MONDO_0017737 intermediate severe Salla disease 'intermediate severe Salla disease' SubClassOf 'free sialic acid storage disease' http://purl.obolibrary.org/obo/MONDO_0017738 lysosomal glycogen storage disease 'lysosomal glycogen storage disease' SubClassOf 'lysosomal storage disease' http://purl.obolibrary.org/obo/MONDO_0017731 glycoproteinosis 'glycoproteinosis' SubClassOf 'lysosomal storage disease' http://purl.obolibrary.org/obo/MONDO_0017732 alpha-mannosidosis, infantile form 'alpha-mannosidosis, infantile form' SubClassOf 'alpha-mannosidosis' http://purl.obolibrary.org/obo/MONDO_0017733 alpha-mannosidosis, adult form 'alpha-mannosidosis, adult form' SubClassOf 'alpha-mannosidosis' http://purl.obolibrary.org/obo/MONDO_0017734 sialidosis 'sialidosis' SubClassOf 'oligosaccharidosis' http://purl.obolibrary.org/obo/MONDO_0017730 metachromatic leukodystrophy, adult form 'metachromatic leukodystrophy, adult form' SubClassOf 'metachromatic leukodystrophy, juvenile form' http://purl.obolibrary.org/obo/MONDO_0017746 atypical Rett syndrome 'atypical Rett syndrome' SubClassOf 'X-linked complex neurodevelopmental disorder' 'atypical Rett syndrome' SubClassOf 'disease shares features of' some 'Rett syndrome' 'atypical Rett syndrome' SubClassOf 'motor stereotypies' 'atypical Rett syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'atypical Rett syndrome' SubClassOf 'pervasive developmental disorder' http://purl.obolibrary.org/obo/MONDO_0017747 disorder of fucoglycosan synthesis 'disorder of fucoglycosan synthesis' SubClassOf 'disorder of protein O-glycosylation' http://purl.obolibrary.org/obo/MONDO_0017748 inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation 'inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' SubClassOf 'inherited lipid metabolism disorder' 'inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' SubClassOf 'congenital disorder of glycosylation' 'inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' SubClassOf 'disorder of GPI anchor biosynthesis' http://purl.obolibrary.org/obo/MONDO_0017749 disorder of multiple glycosylation 'disorder of multiple glycosylation' SubClassOf 'congenital disorder of glycosylation' http://purl.obolibrary.org/obo/MONDO_0017742 disorder of O-xylosylglycan synthesis 'disorder of O-xylosylglycan synthesis' SubClassOf 'disorder of protein O-glycosylation' http://purl.obolibrary.org/obo/MONDO_0017743 disorder of O-N-acetylgalactosaminylglycan synthesis 'disorder of O-N-acetylgalactosaminylglycan synthesis' SubClassOf 'disorder of protein O-glycosylation' http://purl.obolibrary.org/obo/MONDO_0017744 disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis 'disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis' SubClassOf 'disorder of protein O-glycosylation' http://purl.obolibrary.org/obo/MONDO_0017745 disorder of O-mannosylglycan synthesis 'disorder of O-mannosylglycan synthesis' SubClassOf 'disorder of protein O-glycosylation' http://purl.obolibrary.org/obo/MONDO_0017740 disorder of protein N-glycosylation 'disorder of protein N-glycosylation' SubClassOf 'congenital disorder of glycosylation' 'disorder of protein N-glycosylation' SubClassOf 'glycoprotein metabolism disease' http://purl.obolibrary.org/obo/MONDO_0017741 disorder of protein O-glycosylation 'disorder of protein O-glycosylation' SubClassOf 'congenital disorder of glycosylation' 'disorder of protein O-glycosylation' SubClassOf 'glycoprotein metabolism disease' http://purl.obolibrary.org/obo/MONDO_0017757 disorder of metabolite absorption and transport 'disorder of metabolite absorption and transport' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0017758 disorder of vitamin and non-protein cofactor absorption and transport 'disorder of vitamin and non-protein cofactor absorption and transport' SubClassOf 'disorder of metabolite absorption and transport' http://purl.obolibrary.org/obo/MONDO_0017759 disorder of catecholamine synthesis 'disorder of catecholamine synthesis' SubClassOf 'inborn disorder of neurotransmitter metabolism and transport' http://purl.obolibrary.org/obo/MONDO_0017753 obsolete disorder of peroxisomal alpha-, beta- and omega-oxidation 'obsolete disorder of peroxisomal alpha-, beta- and omega-oxidation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017754 inborn disorder of porphyrin metabolism 'inborn disorder of porphyrin metabolism' SubClassOf 'porphyrin metabolism disease' 'inborn disorder of porphyrin metabolism' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0017755 inborn disorder of bilirubin metabolism 'inborn disorder of bilirubin metabolism' SubClassOf 'bilirubin metabolism disease' 'inborn disorder of bilirubin metabolism' SubClassOf 'inborn disorder of porphyrin metabolism' 'inborn disorder of bilirubin metabolism' EquivalentTo 'bilirubin metabolism disease' and ('has modifier' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0017756 disorder of pterin metabolism 'disorder of pterin metabolism' SubClassOf 'inborn disorder of neurotransmitter metabolism and transport' http://purl.obolibrary.org/obo/MONDO_0017750 defect in conserved oligomeric Golgi complex 'defect in conserved oligomeric Golgi complex' SubClassOf 'disorder of multiple glycosylation' http://purl.obolibrary.org/obo/MONDO_0017752 defect in V-ATPase 'defect in V-ATPase' SubClassOf 'disorder of multiple glycosylation' http://purl.obolibrary.org/obo/MONDO_0015104 porphyria cutanea tarda 'porphyria cutanea tarda' SubClassOf 'chronic hepatic porphyria' 'porphyria cutanea tarda' SubClassOf 'dermatitis' http://purl.obolibrary.org/obo/MONDO_0017764 disorder of zinc metabolism 'disorder of zinc metabolism' SubClassOf 'disorder of mineral absorption and transport' http://purl.obolibrary.org/obo/MONDO_0017765 disorder of magnesium transport 'disorder of magnesium transport' SubClassOf 'disorder of mineral absorption and transport' http://purl.obolibrary.org/obo/MONDO_0017766 disorder of manganese transport 'disorder of manganese transport' SubClassOf 'disorder of mineral absorption and transport' http://purl.obolibrary.org/obo/MONDO_0017760 disorder of other vitamins and cofactors metabolism and transport 'disorder of other vitamins and cofactors metabolism and transport' SubClassOf 'disorder of vitamin and non-protein cofactor absorption and transport' http://purl.obolibrary.org/obo/MONDO_0017761 disorder of mineral absorption and transport 'disorder of mineral absorption and transport' SubClassOf 'disorder of metabolite absorption and transport' http://purl.obolibrary.org/obo/MONDO_0017762 disorder of copper metabolism 'disorder of copper metabolism' SubClassOf 'disorder of mineral absorption and transport' http://purl.obolibrary.org/obo/MONDO_0017763 disorder of iron metabolism and transport 'disorder of iron metabolism and transport' SubClassOf 'disorder of mineral absorption and transport' http://purl.obolibrary.org/obo/MONDO_0015101 Marin-Amat syndrome 'Marin-Amat syndrome' SubClassOf 'jaw-winking syndrome' http://purl.obolibrary.org/obo/MONDO_0017779 alpha-N-acetylgalactosaminidase deficiency 'alpha-N-acetylgalactosaminidase deficiency' SubClassOf 'neurometabolic disease' 'alpha-N-acetylgalactosaminidase deficiency' SubClassOf 'oligosaccharidosis' http://purl.obolibrary.org/obo/MONDO_0017778 lamellar ichthyosis 'lamellar ichthyosis' SubClassOf 'inherited non-syndromic ichthyosis' 'lamellar ichthyosis' SubClassOf 'secondary ectropion' http://purl.obolibrary.org/obo/MONDO_0017771 Mayer-Rokitansky-Kuster-Hauser syndrome 'Mayer-Rokitansky-Kuster-Hauser syndrome' SubClassOf 'syndromic uterovaginal malformation' 'Mayer-Rokitansky-Kuster-Hauser syndrome' SubClassOf 'partial bilateral aplasia of the mullerian ducts' 'Mayer-Rokitansky-Kuster-Hauser syndrome' SubClassOf 'syndromic renal or urinary tract malformation' 'Mayer-Rokitansky-Kuster-Hauser syndrome' SubClassOf 'syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0017773 hypoalphalipoproteinemia 'hypoalphalipoproteinemia' SubClassOf 'metabolic disease' 'hypoalphalipoproteinemia' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0017774 hypobetalipoproteinemia 'hypobetalipoproteinemia' SubClassOf 'has modifier' some 'rare' 'hypobetalipoproteinemia' SubClassOf 'hypolipoproteinemia' http://purl.obolibrary.org/obo/MONDO_0015110 genetic cardiac rhythm disease 'genetic cardiac rhythm disease' SubClassOf 'genetic disorder' 'genetic cardiac rhythm disease' SubClassOf 'has modifier' some 'rare' 'genetic cardiac rhythm disease' EquivalentTo 'cardiac rhythm disease' and ('has modifier' some 'inherited') 'genetic cardiac rhythm disease' SubClassOf 'cardiac rhythm disease' http://purl.obolibrary.org/obo/MONDO_0017770 Robinow-like syndrome 'Robinow-like syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0015127 pituitary deficiency 'pituitary deficiency' SubClassOf 'endocrine system disease' http://purl.obolibrary.org/obo/MONDO_0017786 2q23.1 microduplication syndrome '2q23.1 microduplication syndrome' SubClassOf 'partial duplication of the long arm of chromosome 2' http://purl.obolibrary.org/obo/MONDO_0017787 erythroderma desquamativum 'erythroderma desquamativum' SubClassOf 'immune system disease' http://purl.obolibrary.org/obo/MONDO_0015129 chronic primary adrenal insufficiency 'chronic primary adrenal insufficiency' SubClassOf 'primary adrenal insufficiency' 'chronic primary adrenal insufficiency' SubClassOf 'adrenocortical insufficiency' http://purl.obolibrary.org/obo/MONDO_0017788 contractures - webbed neck - micrognathia - hypoplastic nipples syndrome 'contractures - webbed neck - micrognathia - hypoplastic nipples syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 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 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0017785 PENS syndrome 'PENS syndrome' SubClassOf 'melanocytic nevus' 'PENS syndrome' SubClassOf 'inherited skin tumor' http://purl.obolibrary.org/obo/MONDO_0017780 20p13 microdeletion syndrome '20p13 microdeletion syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' '20p13 microdeletion syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '20p13 microdeletion syndrome' SubClassOf 'partial monosomy of the short arm of chromosome 20' http://purl.obolibrary.org/obo/MONDO_0017781 12p12.1 microdeletion syndrome '12p12.1 microdeletion syndrome' SubClassOf 'chromosome 12p deletion' http://purl.obolibrary.org/obo/MONDO_0015135 primary immunodeficiency due to a genetic defect in innate immunity 'primary immunodeficiency due to a genetic defect in innate immunity' SubClassOf 'has modifier' some 'rare' 'primary immunodeficiency due to a genetic defect in innate immunity' SubClassOf 'inborn errors of immunity' http://purl.obolibrary.org/obo/MONDO_0017793 marfanoid habitus-inguinal hernia-advanced bone age syndrome 'marfanoid habitus-inguinal hernia-advanced bone age syndrome' SubClassOf 'developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0017794 Xq12-q13.3 duplication syndrome 'Xq12-q13.3 duplication syndrome' SubClassOf 'partial duplication of the long arm of chromosome X' http://purl.obolibrary.org/obo/MONDO_0015134 constitutional neutropenia 'constitutional neutropenia' SubClassOf 'congenital hematological disorder' 'constitutional neutropenia' SubClassOf 'quantitative and/or qualitative congenital phagocyte defect' 'constitutional neutropenia' SubClassOf 'neutropenia' http://purl.obolibrary.org/obo/MONDO_0015132 immunodeficiency predominantly affecting antibody production 'immunodeficiency predominantly affecting antibody production' SubClassOf 'primary immunodeficiency due to a defect in adaptive immunity' http://purl.obolibrary.org/obo/MONDO_0017791 high bone mass osteogenesis imperfecta 'high bone mass osteogenesis imperfecta' SubClassOf 'osteogenesis imperfecta' http://purl.obolibrary.org/obo/MONDO_0015131 combined immunodeficiency 'combined immunodeficiency' SubClassOf 'primary immunodeficiency due to a defect in adaptive immunity' 'combined immunodeficiency' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0017792 7p22.1 microduplication syndrome '7p22.1 microduplication syndrome' SubClassOf 'syndromic intellectual disability' '7p22.1 microduplication syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' '7p22.1 microduplication syndrome' SubClassOf 'genetic nervous system disorder' '7p22.1 microduplication syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '7p22.1 microduplication syndrome' SubClassOf 'congenital nervous system disorder' '7p22.1 microduplication syndrome' SubClassOf 'partial duplication of the short arm of chromosome 7' http://purl.obolibrary.org/obo/MONDO_0015149 pure hereditary spastic paraplegia 'pure hereditary spastic paraplegia' SubClassOf 'hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0015148 lissencephaly type 3 'lissencephaly type 3' SubClassOf 'lissencephaly spectrum disorders' http://purl.obolibrary.org/obo/MONDO_0015146 classic lissencephaly 'classic lissencephaly' SubClassOf 'lissencephaly spectrum disorders' http://purl.obolibrary.org/obo/MONDO_0015140 early-onset autosomal dominant Alzheimer disease 'early-onset autosomal dominant Alzheimer disease' SubClassOf 'disease has major feature' some 'dementia' 'early-onset autosomal dominant Alzheimer disease' SubClassOf 'familial Alzheimer disease' 'early-onset autosomal dominant Alzheimer disease' SubClassOf 'autosomal dominant disease' 'early-onset autosomal dominant Alzheimer disease' SubClassOf 'genetic dementia' 'early-onset autosomal dominant Alzheimer disease' SubClassOf 'inherited neurodegenerative disorder' http://purl.obolibrary.org/obo/MONDO_0015145 neurovascular malformation 'neurovascular malformation' SubClassOf 'disease has feature' some 'structural epilepsy' 'neurovascular malformation' SubClassOf 'disorder of central nervous system or retinal vasculature' 'neurovascular malformation' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015159 multiple congenital anomalies/dysmorphic syndrome-intellectual disability 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome' 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015152 autosomal recessive limb-girdle muscular dystrophy 'autosomal recessive limb-girdle muscular dystrophy' SubClassOf 'genetic nervous system disorder' 'autosomal recessive limb-girdle muscular dystrophy' SubClassOf 'autosomal recessive disease' 'autosomal recessive limb-girdle muscular dystrophy' SubClassOf 'limb-girdle muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0015151 muscular dystrophy, limb-girdle, autosomal dominant 'muscular dystrophy, limb-girdle, autosomal dominant' SubClassOf 'limb-girdle muscular dystrophy' 'muscular dystrophy, limb-girdle, autosomal dominant' SubClassOf 'genetic nervous system disorder' 'muscular dystrophy, limb-girdle, autosomal dominant' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0015150 complex hereditary spastic paraplegia 'complex hereditary spastic paraplegia' SubClassOf 'hereditary spastic paraplegia' 'complex hereditary spastic paraplegia' SubClassOf 'syndromic disease' 'complex hereditary spastic paraplegia' EquivalentTo 'hereditary spastic paraplegia' and ('has modifier' some 'has a syndromic presentation') http://purl.obolibrary.org/obo/MONDO_0015153 obsolete autosomal monosomy 'obsolete autosomal monosomy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015170 congenital sodium diarrhea 'congenital sodium diarrhea' SubClassOf 'congenital intestinal transport defect' 'congenital sodium diarrhea' SubClassOf 'congenital diarrhea' http://purl.obolibrary.org/obo/MONDO_0015169 chronic diarrhea due to glucoamylase deficiency 'chronic diarrhea due to glucoamylase deficiency' SubClassOf 'disorder of carbohydrate absorption and transport' 'chronic diarrhea due to glucoamylase deficiency' SubClassOf 'chronic diarrheal disease' http://purl.obolibrary.org/obo/MONDO_0015168 arthrogryposis multiplex congenita 'arthrogryposis multiplex congenita' SubClassOf 'arthrogryposis syndrome' 'arthrogryposis multiplex congenita' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0015163 primary glomerular disease 'primary glomerular disease' SubClassOf 'glomerular disease' http://purl.obolibrary.org/obo/MONDO_0015160 multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0015167 amniotic band syndrome 'amniotic band syndrome' SubClassOf 'non-syndromic terminal limb defects' http://purl.obolibrary.org/obo/MONDO_0015180 intestinal disease due to fat malabsorption 'intestinal disease due to fat malabsorption' SubClassOf 'has modifier' some 'rare' 'intestinal disease due to fat malabsorption' SubClassOf 'malabsorption syndrome' http://purl.obolibrary.org/obo/MONDO_0015179 intestinal disease due to vitamin absorption anomaly 'intestinal disease due to vitamin absorption anomaly' SubClassOf 'has modifier' some 'rare' 'intestinal disease due to vitamin absorption anomaly' SubClassOf 'malabsorption syndrome' http://purl.obolibrary.org/obo/MONDO_0015171 congenital enterocyte heparan sulfate deficiency 'congenital enterocyte heparan sulfate deficiency' SubClassOf 'congenital enteropathy involving intestinal mucosa development' http://purl.obolibrary.org/obo/MONDO_0015178 congenital intestinal transport defect 'congenital intestinal transport defect' SubClassOf 'has modifier' some 'congenital' 'congenital intestinal transport defect' SubClassOf 'intestinal disease' 'congenital intestinal transport defect' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015177 metaphyseal anadysplasia 'metaphyseal anadysplasia' SubClassOf 'multiple metaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0015191 myopathic intestinal pseudoobstruction 'myopathic intestinal pseudoobstruction' SubClassOf 'chronic intestinal pseudoobstruction' http://purl.obolibrary.org/obo/MONDO_0015182 congenital enteropathy involving intestinal mucosa development 'congenital enteropathy involving intestinal mucosa development' SubClassOf 'intestinal disease' 'congenital enteropathy involving intestinal mucosa development' SubClassOf 'disorder of development or morphogenesis' 'congenital enteropathy involving intestinal mucosa development' SubClassOf 'has modifier' some 'congenital' 'congenital enteropathy involving intestinal mucosa development' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015195 atresia of urethra 'atresia of urethra' SubClassOf 'fetal lower urinary tract obstruction' http://purl.obolibrary.org/obo/MONDO_0015199 aniridia - intellectual disability syndrome 'aniridia - intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'aniridia - intellectual disability syndrome' SubClassOf 'genetic nervous system disorder' 'aniridia - intellectual disability syndrome' SubClassOf 'syndromic aniridia' 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' 'aniridia-ptosis-intellectual disability-familial obesity syndrome' SubClassOf 'genetic nervous system disorder' 'aniridia-ptosis-intellectual disability-familial obesity syndrome' SubClassOf 'syndromic aniridia' http://purl.obolibrary.org/obo/MONDO_0017809 parkinsonism due to ATP13A2 deficiency 'parkinsonism due to ATP13A2 deficiency' SubClassOf 'Kufor-Rakeb syndrome' 'parkinsonism due to ATP13A2 deficiency' SubClassOf 'juvenile neuronal ceroid lipofuscinosis' 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 'genetic multiple congenital anomalies/dysmorphic syndrome' 'intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome' SubClassOf 'inherited hypertrophic pyloric stenosis' 'intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome' SubClassOf 'syndromic intellectual disability' 'intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome' SubClassOf 'genetic nervous system disorder' 'intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0017806 15q overgrowth syndrome '15q overgrowth syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '15q overgrowth syndrome' SubClassOf 'partial duplication of the long arm of chromosome 15' '15q overgrowth syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' '15q overgrowth syndrome' SubClassOf 'overgrowth syndrome' http://purl.obolibrary.org/obo/MONDO_0017808 duplication of the pituitary gland 'duplication of the pituitary gland' SubClassOf 'endocrine system disease' 'duplication of the pituitary gland' SubClassOf 'midline cerebral malformation' http://purl.obolibrary.org/obo/MONDO_0017804 autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome 'autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome' SubClassOf 'syndromic retinitis pigmentosa' 'autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome' SubClassOf 'cerebral small vessel disease' http://purl.obolibrary.org/obo/MONDO_0005835 Lynch syndrome 'Lynch syndrome' SubClassOf 'autosomal dominant disease' 'Lynch syndrome' SubClassOf 'hereditary nonpolyposis colon cancer' http://purl.obolibrary.org/obo/MONDO_0017816 primary systemic amyloidosis 'primary systemic amyloidosis' SubClassOf 'AL amyloidosis' http://purl.obolibrary.org/obo/MONDO_0017817 primary localized amyloidosis 'primary localized amyloidosis' SubClassOf 'AL amyloidosis' http://purl.obolibrary.org/obo/MONDO_0017818 lethal arteriopathy syndrome due to fibulin-4 deficiency 'lethal arteriopathy syndrome due to fibulin-4 deficiency' SubClassOf 'has modifier' some 'rare' 'lethal arteriopathy syndrome due to fibulin-4 deficiency' SubClassOf 'vascular disease' http://purl.obolibrary.org/obo/MONDO_0017819 atypical dentin dysplasia due to SMOC2 deficiency 'atypical dentin dysplasia due to SMOC2 deficiency' SubClassOf 'dentin dysplasia type I' http://purl.obolibrary.org/obo/MONDO_0017812 segmental progressive overgrowth syndrome with fibroadipose hyperplasia 'segmental progressive overgrowth syndrome with fibroadipose hyperplasia' SubClassOf 'overgrowth syndrome' http://purl.obolibrary.org/obo/MONDO_0017813 van Maldergem syndrome 'van Maldergem syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'van Maldergem syndrome' SubClassOf 'genetic nervous system disorder' 'van Maldergem syndrome' SubClassOf 'syndromic intellectual disability' 'van Maldergem syndrome' SubClassOf 'congenital nervous system disorder' 'van Maldergem syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0017815 acquired porencephaly 'acquired porencephaly' SubClassOf 'porencephaly' 'acquired porencephaly' EquivalentTo 'porencephaly' and ('has modifier' some 'acquired') 'acquired porencephaly' SubClassOf 'has modifier' some 'acquired' http://purl.obolibrary.org/obo/MONDO_0017810 variant ABeta2M amyloidosis 'variant ABeta2M amyloidosis' SubClassOf 'hereditary amyloidosis' 'variant ABeta2M amyloidosis' SubClassOf 'ABeta2M amyloidosis' http://purl.obolibrary.org/obo/MONDO_0017811 severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion 'severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion' SubClassOf 'genetic nervous system disorder' 'severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion' SubClassOf 'PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome' 'severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion' SubClassOf 'partial deletion of the long arm of chromosome 5' http://purl.obolibrary.org/obo/MONDO_0017828 primary renal tubular acidosis 'primary renal tubular acidosis' SubClassOf 'inherited renal tubular disease' http://purl.obolibrary.org/obo/MONDO_0017829 autosomal dominant proximal renal tubular acidosis 'autosomal dominant proximal renal tubular acidosis' SubClassOf 'autosomal dominant disease' 'autosomal dominant proximal renal tubular acidosis' SubClassOf 'proximal renal tubular acidosis' http://purl.obolibrary.org/obo/MONDO_0017607 caudal regression sequence 'caudal regression sequence' SubClassOf 'syndromic renal or urinary tract malformation' 'caudal regression sequence' SubClassOf 'neural tube defect' http://purl.obolibrary.org/obo/MONDO_0017606 facial nerve palsy due to herpes zoster infection 'facial nerve palsy due to herpes zoster infection' SubClassOf 'Varicella Zoster infection' 'facial nerve palsy due to herpes zoster infection' SubClassOf 'viral infection of central nervous system' 'facial nerve palsy due to herpes zoster infection' SubClassOf 'Bell's palsy' http://purl.obolibrary.org/obo/MONDO_0017618 congenital sucrase-isomaltase deficiency with starch intolerance 'congenital sucrase-isomaltase deficiency with starch intolerance' SubClassOf 'congenital sucrase-isomaltase deficiency' http://purl.obolibrary.org/obo/MONDO_0017619 congenital sucrase-isomaltase deficiency with minimal starch tolerance 'congenital sucrase-isomaltase deficiency with minimal starch tolerance' SubClassOf 'congenital sucrase-isomaltase deficiency' 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 'genetic multiple congenital anomalies/dysmorphic syndrome' 'X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome' SubClassOf 'congenital nervous system disorder' 'X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '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 ichthyosis syndrome' 'X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome' SubClassOf 'autosomal ichthyosis syndrome' http://purl.obolibrary.org/obo/MONDO_0017615 benign familial infantile epilepsy 'benign familial infantile epilepsy' SubClassOf 'genetic nervous system disorder' 'benign familial infantile epilepsy' SubClassOf 'benign partial infantile seizures' 'benign familial infantile epilepsy' SubClassOf 'infancy electroclinical syndrome' 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' http://purl.obolibrary.org/obo/MONDO_0017610 epidermolysis bullosa simplex 'epidermolysis bullosa simplex' SubClassOf 'inherited epidermolysis bullosa' http://purl.obolibrary.org/obo/MONDO_0017612 junctional epidermolysis bullosa 'junctional epidermolysis bullosa' SubClassOf 'inherited epidermolysis bullosa' http://purl.obolibrary.org/obo/MONDO_0017613 intellectual disability-hypotonia-skin hyperpigmentation syndrome 'intellectual disability-hypotonia-skin hyperpigmentation syndrome' SubClassOf 'has modifier' some 'rare' 'intellectual disability-hypotonia-skin hyperpigmentation syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0017629 sodium channelopathy-related small fiber neuropathy 'sodium channelopathy-related small fiber neuropathy' SubClassOf 'autosomal dominant disease' 'sodium channelopathy-related small fiber neuropathy' SubClassOf 'genetic peripheral neuropathy' 'sodium channelopathy-related small fiber neuropathy' SubClassOf 'channelopathy' http://purl.obolibrary.org/obo/MONDO_0017625 familial primary hypomagnesemia with hypocalcuria 'familial primary hypomagnesemia with hypocalcuria' SubClassOf 'familial primary hypomagnesemia' http://purl.obolibrary.org/obo/MONDO_0017626 familial primary hypomagnesemia with normocalcuria 'familial primary hypomagnesemia with normocalcuria' SubClassOf 'familial primary hypomagnesemia' http://purl.obolibrary.org/obo/MONDO_0017627 congenital hereditary facial paralysis-variable hearing loss syndrome 'congenital hereditary facial paralysis-variable hearing loss syndrome' SubClassOf 'cranial nerve and nuclear aplasia' 'congenital hereditary facial paralysis-variable hearing loss syndrome' SubClassOf 'paralytic facial malformation' http://purl.obolibrary.org/obo/MONDO_0017621 congenital sucrase-isomaltase deficiency with starch and lactose intolerance 'congenital sucrase-isomaltase deficiency without starch intolerance' DisjointWith 'congenital sucrase-isomaltase deficiency with starch and lactose intolerance' 'congenital sucrase-isomaltase deficiency with starch and lactose intolerance' SubClassOf 'congenital sucrase-isomaltase deficiency' http://purl.obolibrary.org/obo/MONDO_0017622 congenital sucrase-isomaltase deficiency without sucrose intolerance 'congenital sucrase-isomaltase deficiency without sucrose intolerance' SubClassOf 'congenital sucrase-isomaltase deficiency' http://purl.obolibrary.org/obo/MONDO_0017623 PTEN hamartoma tumor syndrome 'PTEN hamartoma tumor syndrome' SubClassOf 'developmental defect during embryogenesis' 'PTEN hamartoma tumor syndrome' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0017624 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 'familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis' SubClassOf 'familial primary hypomagnesemia' http://purl.obolibrary.org/obo/MONDO_0017620 congenital sucrase-isomaltase deficiency without starch intolerance 'congenital sucrase-isomaltase deficiency without starch intolerance' DisjointWith 'congenital sucrase-isomaltase deficiency with starch and lactose intolerance' 'congenital sucrase-isomaltase deficiency without starch intolerance' SubClassOf 'congenital sucrase-isomaltase deficiency' http://purl.obolibrary.org/obo/MONDO_0017636 hemiparkinsonism-hemiatrophy syndrome 'hemiparkinsonism-hemiatrophy syndrome' SubClassOf 'parkinsonian disorder' http://purl.obolibrary.org/obo/MONDO_0017630 X-linked complicated spastic paraplegia type 1 'X-linked complicated spastic paraplegia type 1' SubClassOf 'L1 syndrome' 'X-linked complicated spastic paraplegia type 1' SubClassOf 'X-linked recessive 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 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0017656 motor stereotypies 'motor stereotypies' SubClassOf 'movement disorder' 'motor stereotypies' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0017651 primary myoclonus 'primary myoclonus' SubClassOf 'movement disorder' 'primary myoclonus' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0017666 diffuse palmoplantar keratoderma 'diffuse palmoplantar keratoderma' SubClassOf 'hereditary palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0017667 isolated diffuse palmoplantar keratoderma 'isolated diffuse palmoplantar keratoderma' SubClassOf 'diffuse palmoplantar keratoderma' 'isolated diffuse palmoplantar keratoderma' EquivalentTo 'diffuse palmoplantar keratoderma' and ('has modifier' some 'has an isolated presentation') 'isolated diffuse palmoplantar keratoderma' SubClassOf 'has modifier' some 'has an isolated presentation' 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 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'intellectual disability-short stature-hypertelorism syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0017663 obsolete inherited tremor disorder 'obsolete inherited tremor disorder' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017676 marginal papular palmoplantar keratoderma 'marginal papular palmoplantar keratoderma' SubClassOf 'isolated punctate palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0017677 focal acral hyperkeratosis 'focal acral hyperkeratosis' SubClassOf 'marginal papular palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0017672 focal palmoplantar keratoderma 'focal palmoplantar keratoderma' SubClassOf 'hereditary palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0017673 isolated focal palmoplantar keratoderma 'isolated focal palmoplantar keratoderma' SubClassOf 'has modifier' some 'has an isolated presentation' 'isolated focal palmoplantar keratoderma' SubClassOf 'focal palmoplantar keratoderma' 'isolated focal palmoplantar keratoderma' EquivalentTo 'focal palmoplantar keratoderma' and ('has modifier' some 'has an isolated presentation') http://purl.obolibrary.org/obo/MONDO_0017675 punctate palmoplantar keratoderma 'punctate palmoplantar keratoderma' SubClassOf 'hereditary palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0017670 autosomal dominant diffuse mutilating palmoplantar keratoderma 'autosomal dominant diffuse mutilating palmoplantar keratoderma' SubClassOf 'diffuse palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0015010 atypical glycine encephalopathy 'atypical glycine encephalopathy' SubClassOf 'glycine encephalopathy' http://purl.obolibrary.org/obo/MONDO_0015028 48,XXYY syndrome '48,XXYY syndrome' SubClassOf 'sex chromosome disorder of sex development' '48,XXYY syndrome' SubClassOf 'syndromic intellectual disability' '48,XXYY syndrome' SubClassOf 'syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0015027 familial isolated hyperparathyroidism 'familial isolated hyperparathyroidism' SubClassOf 'hereditary neoplastic syndrome' 'familial isolated hyperparathyroidism' SubClassOf 'familial primary hyperparathyroidism' http://purl.obolibrary.org/obo/MONDO_0017687 disorder of neutral amino acid transport 'disorder of neutral amino acid transport' SubClassOf 'inborn disorder of amino acid absorption and transport' http://purl.obolibrary.org/obo/MONDO_0017688 disorder of glycolysis 'disorder of glycolysis' SubClassOf 'pyruvate metabolism disorder' 'disorder of glycolysis' SubClassOf 'inborn carbohydrate metabolic disorder' 'disorder of glycolysis' SubClassOf 'inborn disorder of purine or pyrimidine metabolism' http://purl.obolibrary.org/obo/MONDO_0017689 disorder of fructose metabolism 'disorder of fructose metabolism' SubClassOf 'inborn carbohydrate metabolic disorder' http://purl.obolibrary.org/obo/MONDO_0017683 methylcobalamin deficiency type cblDv1 'methylcobalamin deficiency type cblDv1' SubClassOf 'homocystinuria without methylmalonic aciduria' http://purl.obolibrary.org/obo/MONDO_0017684 disorder of beta and omega amino acid metabolism 'disorder of beta and omega amino acid metabolism' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' http://purl.obolibrary.org/obo/MONDO_0017685 vitamin B12-responsive methylmalonic acidemia, type cblDv2 'vitamin B12-responsive methylmalonic acidemia, type cblDv2' SubClassOf 'vitamin B12-responsive methylmalonic acidemia' http://purl.obolibrary.org/obo/MONDO_0017686 inborn aminoacylase deficiency 'inborn aminoacylase deficiency' SubClassOf 'cerebral organic aciduria' http://purl.obolibrary.org/obo/MONDO_0017681 erythrokeratoderma variabilis progressiva 'erythrokeratoderma variabilis progressiva' SubClassOf 'erythrokeratoderma' 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 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'intellectual disability-polydactyly-uncombable hair syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0015039 lissencephaly with cerebellar hypoplasia type F 'lissencephaly with cerebellar hypoplasia type F' SubClassOf 'lissencephaly with cerebellar hypoplasia' http://purl.obolibrary.org/obo/MONDO_0015038 lissencephaly with cerebellar hypoplasia type E 'lissencephaly with cerebellar hypoplasia type E' SubClassOf 'lissencephaly with cerebellar hypoplasia' http://purl.obolibrary.org/obo/MONDO_0015037 lissencephaly with cerebellar hypoplasia type D 'lissencephaly with cerebellar hypoplasia type D' SubClassOf 'lissencephaly with cerebellar hypoplasia' http://purl.obolibrary.org/obo/MONDO_0015036 lissencephaly with cerebellar hypoplasia type C 'lissencephaly with cerebellar hypoplasia type C' SubClassOf 'lissencephaly with cerebellar hypoplasia' http://purl.obolibrary.org/obo/MONDO_0017698 glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form 'glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form' SubClassOf 'glycogen storage disease due to glycogen branching enzyme deficiency' 'glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form' SubClassOf 'has modifier' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0017699 glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form 'glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form' SubClassOf 'glycogen storage disease due to glycogen branching enzyme deficiency' http://purl.obolibrary.org/obo/MONDO_0017694 glycogen storage disease due to acid maltase deficiency, infantile onset 'glycogen storage disease due to acid maltase deficiency, infantile onset' SubClassOf 'glycogen storage disease II' http://purl.obolibrary.org/obo/MONDO_0017695 glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form 'glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form' SubClassOf 'glycogen storage disease due to glycogen branching enzyme deficiency' http://purl.obolibrary.org/obo/MONDO_0017696 glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form 'glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form' SubClassOf 'glycogen storage disease due to glycogen branching enzyme deficiency' http://purl.obolibrary.org/obo/MONDO_0017697 glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form 'glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form' SubClassOf 'glycogen storage disease due to glycogen branching enzyme deficiency' http://purl.obolibrary.org/obo/MONDO_0015035 lissencephaly with cerebellar hypoplasia type B 'lissencephaly with cerebellar hypoplasia type B' SubClassOf 'lissencephaly with cerebellar hypoplasia' http://purl.obolibrary.org/obo/MONDO_0017690 disorder of galactose metabolism 'disorder of galactose metabolism' SubClassOf 'inborn carbohydrate metabolic disorder' http://purl.obolibrary.org/obo/MONDO_0015034 lissencephaly with cerebellar hypoplasia type A 'lissencephaly with cerebellar hypoplasia type A' SubClassOf 'lissencephaly with cerebellar hypoplasia' http://purl.obolibrary.org/obo/MONDO_0017691 erythrocyte galactose epimerase deficiency 'erythrocyte galactose epimerase deficiency' SubClassOf 'galactose epimerase deficiency' http://purl.obolibrary.org/obo/MONDO_0015033 ABeta amyloidosis, dutch type 'ABeta amyloidosis, dutch type' SubClassOf 'cerebral amyloid angiopathy, APP-related' http://purl.obolibrary.org/obo/MONDO_0017692 generalized galactose epimerase deficiency 'generalized galactose epimerase deficiency' SubClassOf 'galactose epimerase deficiency' http://purl.obolibrary.org/obo/MONDO_0015048 amelogenesis imperfecta type 2 'amelogenesis imperfecta type 2' SubClassOf 'amelogenesis imperfecta' http://purl.obolibrary.org/obo/MONDO_0015047 amelogenesis imperfecta type 1 'amelogenesis imperfecta type 1' SubClassOf 'amelogenesis imperfecta' http://purl.obolibrary.org/obo/MONDO_0015060 mosaic trisomy 3 'mosaic trisomy 3' SubClassOf 'chromosome 3 disorder' 'mosaic trisomy 3' SubClassOf 'trisomy' 'mosaic trisomy 3' SubClassOf 'has modifier' some 'mosaic' 'mosaic trisomy 3' SubClassOf 'total autosomal trisomy' http://purl.obolibrary.org/obo/MONDO_0003076 unilateral retinoblastoma 'unilateral retinoblastoma' SubClassOf 'retinoblastoma' http://purl.obolibrary.org/obo/MONDO_0015059 progressive non-fluent aphasia 'progressive non-fluent aphasia' SubClassOf 'movement disorder' 'progressive non-fluent aphasia' SubClassOf 'Grn-related frontotemporal lobar degeneration with Tdp43 inclusions' 'progressive non-fluent aphasia' SubClassOf 'disease arises from feature' some 'neurodegenerative disease' http://purl.obolibrary.org/obo/MONDO_0015053 hereditary angioedema type 1 'hereditary angioedema type 1' SubClassOf 'hereditary angioedema with C1Inh deficiency' http://purl.obolibrary.org/obo/MONDO_0015051 tubular duplication of the esophagus 'tubular duplication of the esophagus' SubClassOf 'duplication of the esophagus' http://purl.obolibrary.org/obo/MONDO_0015050 esophageal duplication cyst 'esophageal duplication cyst' SubClassOf 'duplication of the esophagus' http://purl.obolibrary.org/obo/MONDO_0015054 hereditary angioedema type 2 'hereditary angioedema type 2' SubClassOf 'hereditary angioedema with C1Inh deficiency' http://purl.obolibrary.org/obo/MONDO_0015082 alopecia antibody deficiency 'alopecia antibody deficiency' SubClassOf 'alopecia' http://purl.obolibrary.org/obo/MONDO_0015079 multiple polyglandular tumor 'multiple polyglandular tumor' SubClassOf 'disease has feature' some 'endocrine neoplasm' 'multiple polyglandular tumor' SubClassOf 'polyendocrinopathy' http://purl.obolibrary.org/obo/MONDO_0015093 sub-cortical nodular heterotopia 'sub-cortical nodular heterotopia' SubClassOf 'nodular neuronal heterotopia' http://purl.obolibrary.org/obo/MONDO_0015091 autosomal dominant spastic paraplegia type 9 'autosomal dominant spastic paraplegia type 9' SubClassOf 'P5CS deficiency' 'autosomal dominant spastic paraplegia type 9' SubClassOf 'autosomal dominant complex spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0015090 autosomal recessive pure spastic paraplegia 'autosomal recessive pure spastic paraplegia' SubClassOf 'autosomal recessive disease' 'autosomal recessive pure spastic paraplegia' SubClassOf 'pure hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0015086 cloverleaf skull-asphyxiating thoracic dysplasia syndrome 'cloverleaf skull-asphyxiating thoracic dysplasia syndrome' SubClassOf 'syndromic craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0015085 bathing suit ichthyosis 'bathing suit ichthyosis' SubClassOf 'autosomal recessive congenital ichthyosis' http://purl.obolibrary.org/obo/MONDO_0015084 FRAXF syndrome 'FRAXF syndrome' SubClassOf 'syndromic disease' 'FRAXF syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0015083 nuclear oculomotor paralysis 'nuclear oculomotor paralysis' SubClassOf 'oculomotor nerve paralysis' http://purl.obolibrary.org/obo/MONDO_0015089 autosomal recessive complex spastic paraplegia 'autosomal recessive complex spastic paraplegia' SubClassOf 'autosomal recessive disease' 'autosomal recessive complex spastic paraplegia' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0015088 autosomal dominant pure spastic paraplegia 'autosomal dominant pure spastic paraplegia' SubClassOf 'autosomal dominant disease' 'autosomal dominant pure spastic paraplegia' SubClassOf 'pure hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0015087 autosomal dominant complex spastic paraplegia 'autosomal dominant complex spastic paraplegia' SubClassOf 'complex hereditary spastic paraplegia' 'autosomal dominant complex spastic paraplegia' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0015096 familial hypofibrinogenemia 'familial hypofibrinogenemia' SubClassOf 'congenital afibrinogenemia' http://purl.obolibrary.org/obo/MONDO_0015095 Peters anomaly-cataract syndrome 'Peters anomaly-cataract syndrome' SubClassOf 'Peters anomaly' http://purl.obolibrary.org/obo/MONDO_0015094 subependymal nodular heterotopia 'subependymal nodular heterotopia' SubClassOf 'nodular neuronal heterotopia' http://purl.obolibrary.org/obo/MONDO_0015099 unilateral hemispheric polymicrogyria 'unilateral hemispheric polymicrogyria' SubClassOf 'unilateral polymicrogyria' http://purl.obolibrary.org/obo/MONDO_0017706 disorder of carbohydrate absorption and transport 'disorder of carbohydrate absorption and transport' SubClassOf 'inborn carbohydrate metabolic disorder' http://purl.obolibrary.org/obo/MONDO_0017708 mevalonate kinase deficiency 'mevalonate kinase deficiency' SubClassOf 'syndromic dyslipidemia' 'mevalonate kinase deficiency' SubClassOf 'sterol biosynthesis disorder' 'mevalonate kinase deficiency' SubClassOf 'hereditary periodic fever syndrome' http://purl.obolibrary.org/obo/MONDO_0017709 disorder of lipid absorption and transport 'disorder of lipid absorption and transport' SubClassOf 'inherited lipid metabolism disorder' 'disorder of lipid absorption and transport' SubClassOf 'pancreas disease' 'disorder of lipid absorption and transport' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0017703 disorder of glyoxylate metabolism 'disorder of glyoxylate metabolism' SubClassOf 'peroxisomal single enzyme/protein defect' http://purl.obolibrary.org/obo/MONDO_0017704 familial partial epilepsy 'familial partial epilepsy' EquivalentTo 'partial epilepsy' and ('has modifier' some 'inherited') 'familial partial epilepsy' SubClassOf 'partial epilepsy' 'familial partial epilepsy' SubClassOf 'adolescent-onset epilepsy syndrome' 'familial partial epilepsy' SubClassOf 'childhood-onset epilepsy syndrome' 'familial partial epilepsy' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0017700 glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form 'glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form' SubClassOf 'glycogen storage disease due to glycogen branching enzyme deficiency' http://purl.obolibrary.org/obo/MONDO_0017701 glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form 'glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form' SubClassOf 'glycogen storage disease due to glycogen branching enzyme deficiency' http://purl.obolibrary.org/obo/MONDO_0005508 hereditary multiple osteochondromas 'hereditary multiple osteochondromas' SubClassOf 'disorder of O-xylosylglycan synthesis' 'hereditary multiple osteochondromas' SubClassOf 'hereditary neoplastic syndrome' 'hereditary multiple osteochondromas' SubClassOf 'congenital disorder of glycosylation-related bone disorder' 'hereditary multiple osteochondromas' SubClassOf 'exostosis' 'hereditary multiple osteochondromas' SubClassOf 'hereditary disorder of connective tissue' 'hereditary multiple osteochondromas' SubClassOf 'bone neoplasm' http://purl.obolibrary.org/obo/MONDO_0005514 nanophthalmia 'nanophthalmia' SubClassOf 'isolated anophthalmia-microphthalmia syndrome' 'nanophthalmia' SubClassOf 'isolated microphthalmia' http://purl.obolibrary.org/obo/MONDO_0017508 congenital absence/hypoplasia of fingers excluding thumb, bilateral 'congenital absence/hypoplasia of fingers excluding thumb, bilateral' SubClassOf 'congenital absence/hypoplasia of fingers excluding thumb' http://purl.obolibrary.org/obo/MONDO_0017509 adactyly of foot, unilateral 'adactyly of foot, unilateral' SubClassOf 'adactyly of foot' http://purl.obolibrary.org/obo/MONDO_0017504 apodia, unilateral 'apodia, unilateral' SubClassOf 'apodia' http://purl.obolibrary.org/obo/MONDO_0017505 apodia, bilateral 'apodia, bilateral' SubClassOf 'apodia' http://purl.obolibrary.org/obo/MONDO_0017506 congenital absence/hypoplasia of thumb, unilateral 'congenital absence/hypoplasia of thumb, unilateral' SubClassOf 'congenital absence/hypoplasia of thumb' http://purl.obolibrary.org/obo/MONDO_0017507 congenital absence/hypoplasia of thumb, bilateral 'congenital absence/hypoplasia of thumb, bilateral' SubClassOf 'congenital absence/hypoplasia of thumb' http://purl.obolibrary.org/obo/MONDO_0017500 congenital absence of both lower leg and foot, unilateral 'congenital absence of both lower leg and foot, unilateral' SubClassOf 'congenital absence of both lower leg and foot' http://purl.obolibrary.org/obo/MONDO_0017501 congenital absence of both lower leg and foot, bilateral 'congenital absence of both lower leg and foot, bilateral' SubClassOf 'congenital absence of both lower leg and foot' http://purl.obolibrary.org/obo/MONDO_0017502 acheiria, unilateral 'acheiria, unilateral' SubClassOf 'acheiria' http://purl.obolibrary.org/obo/MONDO_0017503 acheiria, bilateral 'acheiria, bilateral' SubClassOf 'acheiria' http://purl.obolibrary.org/obo/MONDO_0017519 symbrachydactyly of hand and foot, unilateral 'symbrachydactyly of hand and foot, unilateral' SubClassOf 'symbrachydactyly of hands and feet' http://purl.obolibrary.org/obo/MONDO_0017515 brachydactyly of fingers, unilateral 'brachydactyly of fingers, unilateral' SubClassOf 'non-syndromic brachydactyly of fingers' http://purl.obolibrary.org/obo/MONDO_0017516 brachydactyly of fingers, bilateral 'brachydactyly of fingers, bilateral' SubClassOf 'non-syndromic brachydactyly of fingers' http://purl.obolibrary.org/obo/MONDO_0017517 brachydactyly of toes, unilateral 'brachydactyly of toes, unilateral' SubClassOf 'non-syndromic brachydactyly of toes' http://purl.obolibrary.org/obo/MONDO_0017518 brachydactyly of toes, bilateral 'brachydactyly of toes, bilateral' SubClassOf 'non-syndromic brachydactyly of toes' http://purl.obolibrary.org/obo/MONDO_0017511 split hand, unilateral 'split hand, unilateral' SubClassOf 'split hand' http://purl.obolibrary.org/obo/MONDO_0017512 split hand, bilateral 'split hand, bilateral' SubClassOf 'split hand' http://purl.obolibrary.org/obo/MONDO_0017513 split foot, unilateral 'split foot, unilateral' SubClassOf 'split foot' http://purl.obolibrary.org/obo/MONDO_0017514 split foot, bilateral 'split foot, bilateral' SubClassOf 'split foot' http://purl.obolibrary.org/obo/MONDO_0017510 adactyly of foot, bilateral 'adactyly of foot, bilateral' SubClassOf 'adactyly of foot' http://purl.obolibrary.org/obo/MONDO_0017526 polydactyly of a triphalangeal thumb, bilateral 'polydactyly of a triphalangeal thumb, bilateral' SubClassOf 'polydactyly of a triphalangeal thumb' http://purl.obolibrary.org/obo/MONDO_0017527 polydactyly of an index finger, unilateral 'polydactyly of an index finger, unilateral' SubClassOf 'polydactyly of an index finger' http://purl.obolibrary.org/obo/MONDO_0017528 polydactyly of an index finger, bilateral 'polydactyly of an index finger, bilateral' SubClassOf 'polydactyly of an index finger' http://purl.obolibrary.org/obo/MONDO_0017529 polysyndactyly, unilateral 'polysyndactyly, unilateral' SubClassOf 'polysyndactyly 4' http://purl.obolibrary.org/obo/MONDO_0017522 hyperphalangy, bilateral 'hyperphalangy, bilateral' SubClassOf 'hyperphalangy' http://purl.obolibrary.org/obo/MONDO_0017523 polydactyly of a biphalangeal thumb, unilateral 'polydactyly of a biphalangeal thumb, unilateral' SubClassOf 'polydactyly of a biphalangeal thumb' http://purl.obolibrary.org/obo/MONDO_0017524 polydactyly of a biphalangeal thumb, bilateral 'polydactyly of a biphalangeal thumb, bilateral' SubClassOf 'polydactyly of a biphalangeal thumb' http://purl.obolibrary.org/obo/MONDO_0017525 polydactyly of a triphalangeal thumb, unilateral 'polydactyly of a triphalangeal thumb, unilateral' SubClassOf 'polydactyly of a triphalangeal thumb' http://purl.obolibrary.org/obo/MONDO_0017520 symbrachydactyly of hand and foot, bilateral 'symbrachydactyly of hand and foot, bilateral' SubClassOf 'symbrachydactyly of hands and feet' http://purl.obolibrary.org/obo/MONDO_0017521 hyperphalangy, unilateral 'hyperphalangy, unilateral' SubClassOf 'hyperphalangy' http://purl.obolibrary.org/obo/MONDO_0017537 Preaxial polydactyly of toes, unilateral 'Preaxial polydactyly of toes, unilateral' SubClassOf 'Preaxial polydactyly of toes' http://purl.obolibrary.org/obo/MONDO_0017538 Preaxial polydactyly of toes, bilateral 'Preaxial polydactyly of toes, bilateral' SubClassOf 'Preaxial polydactyly of toes' http://purl.obolibrary.org/obo/MONDO_0017533 postaxial polydactyly type B, unilateral 'postaxial polydactyly type B, unilateral' SubClassOf 'postaxial polydactyly type B' http://purl.obolibrary.org/obo/MONDO_0017534 postaxial polydactyly type B, bilateral 'postaxial polydactyly type B, bilateral' SubClassOf 'postaxial polydactyly type B' http://purl.obolibrary.org/obo/MONDO_0017535 central polydactyly of fingers, unilateral 'central polydactyly of fingers, unilateral' SubClassOf 'central polydactyly of fingers' http://purl.obolibrary.org/obo/MONDO_0017536 central polydactyly of fingers, bilateral 'central polydactyly of fingers, bilateral' SubClassOf 'central polydactyly of fingers' http://purl.obolibrary.org/obo/MONDO_0017530 polysyndactyly, bilateral 'polysyndactyly, bilateral' SubClassOf 'polysyndactyly 4' http://purl.obolibrary.org/obo/MONDO_0017531 postaxial polydactyly type A, unilateral 'postaxial polydactyly type A, unilateral' SubClassOf 'postaxial polydactyly type A' http://purl.obolibrary.org/obo/MONDO_0017532 postaxial polydactyly type A, bilateral 'postaxial polydactyly type A, bilateral' SubClassOf 'postaxial polydactyly type A' http://purl.obolibrary.org/obo/MONDO_0017548 humero-radio-ulnar synostosis, unilateral 'humero-radio-ulnar synostosis, unilateral' SubClassOf 'humero-radio-ulnar synostosis' http://purl.obolibrary.org/obo/MONDO_0017549 humero-radio-ulnar synostosis, bilateral 'humero-radio-ulnar synostosis, bilateral' SubClassOf 'humero-radio-ulnar synostosis' http://purl.obolibrary.org/obo/MONDO_0017544 zygodactyly type 3 'zygodactyly type 3' SubClassOf 'syndactyly type 1' http://purl.obolibrary.org/obo/MONDO_0017545 zygodactyly type 4 'zygodactyly type 4' SubClassOf 'syndactyly type 1' http://purl.obolibrary.org/obo/MONDO_0017546 congenital vertical talus, unilateral 'congenital vertical talus, unilateral' SubClassOf 'congenital vertical talus' http://purl.obolibrary.org/obo/MONDO_0017547 congenital vertical talus, bilateral 'congenital vertical talus, bilateral' SubClassOf 'congenital vertical talus' http://purl.obolibrary.org/obo/MONDO_0017543 zygodactyly type 2 'zygodactyly type 2' SubClassOf 'syndactyly type 1' http://purl.obolibrary.org/obo/MONDO_0017559 congenital elbow dislocation, bilateral 'congenital elbow dislocation, bilateral' SubClassOf 'congenital elbow dislocation' http://purl.obolibrary.org/obo/MONDO_0017555 radio-ulnar synostosis, bilateral 'radio-ulnar synostosis, bilateral' SubClassOf 'congenital radioulnar synostosis' http://purl.obolibrary.org/obo/MONDO_0017556 Madelung deformity, unilateral 'Madelung deformity, unilateral' SubClassOf 'Madelung deformity' http://purl.obolibrary.org/obo/MONDO_0017557 Madelung deformity, bilateral 'Madelung deformity, bilateral' SubClassOf 'Madelung deformity' http://purl.obolibrary.org/obo/MONDO_0017558 congenital elbow dislocation, unilateral 'congenital elbow dislocation, unilateral' SubClassOf 'congenital elbow dislocation' http://purl.obolibrary.org/obo/MONDO_0017551 humero-radial synostosis, bilateral 'humero-radial synostosis, bilateral' SubClassOf 'humeroradial synostosis' http://purl.obolibrary.org/obo/MONDO_0017552 humero-ulnar synostosis, unilateral 'humero-ulnar synostosis, unilateral' SubClassOf 'humero-ulnar synostosis' http://purl.obolibrary.org/obo/MONDO_0017553 humero-ulnar synostosis, bilateral 'humero-ulnar synostosis, bilateral' SubClassOf 'humero-ulnar synostosis' http://purl.obolibrary.org/obo/MONDO_0017554 radio-ulnar synostosis, unilateral 'radio-ulnar synostosis, unilateral' SubClassOf 'congenital radioulnar synostosis' http://purl.obolibrary.org/obo/MONDO_0017550 humero-radial synostosis, unilateral 'humero-radial synostosis, unilateral' SubClassOf 'humeroradial synostosis' http://purl.obolibrary.org/obo/MONDO_0017566 macrodactyly of toes, unilateral 'macrodactyly of toes, unilateral' SubClassOf 'macrodactyly of toes' http://purl.obolibrary.org/obo/MONDO_0017567 macrodactyly of toes, bilateral 'macrodactyly of toes, bilateral' SubClassOf 'macrodactyly of toes' http://purl.obolibrary.org/obo/MONDO_0017568 Prata-Liberal-Goncalves syndrome 'Prata-Liberal-Goncalves syndrome' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0017569 de Barsy syndrome 'de Barsy syndrome' SubClassOf 'premature aging syndrome' 'de Barsy syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0017562 congenital patella dislocation, unilateral 'congenital patella dislocation, unilateral' SubClassOf 'congenital patella dislocation' http://purl.obolibrary.org/obo/MONDO_0017563 congenital patella dislocation, bilateral 'congenital patella dislocation, bilateral' SubClassOf 'congenital patella dislocation' http://purl.obolibrary.org/obo/MONDO_0017564 macrodactyly of fingers, unilateral 'macrodactyly of fingers, unilateral' SubClassOf 'macrodactyly of fingers' http://purl.obolibrary.org/obo/MONDO_0017565 macrodactyly of fingers, bilateral 'macrodactyly of fingers, bilateral' SubClassOf 'macrodactyly of fingers' http://purl.obolibrary.org/obo/MONDO_0017560 congenital genu recurvatum 'congenital genu recurvatum' SubClassOf 'congenital knee dislocation' http://purl.obolibrary.org/obo/MONDO_0017561 congenital genu flexum 'congenital genu flexum' SubClassOf 'congenital knee dislocation' http://purl.obolibrary.org/obo/MONDO_0017578 disorder of thiamine metabolism and transport 'disorder of thiamine metabolism and transport' SubClassOf 'disorder of vitamin and non-protein cofactor absorption and transport' http://purl.obolibrary.org/obo/MONDO_0017579 Baraitser-Winter cerebrofrontofacial syndrome 'Baraitser-Winter cerebrofrontofacial syndrome' SubClassOf 'lissencephaly spectrum disorders' 'Baraitser-Winter cerebrofrontofacial syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Baraitser-Winter cerebrofrontofacial syndrome' SubClassOf 'eyelids malposition disorder' 'Baraitser-Winter cerebrofrontofacial syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0017573 46,XX disorder of sex development-anorectal anomalies syndrome '46,XX disorder of sex development-anorectal anomalies syndrome' SubClassOf 'syndromic uterovaginal malformation' '46,XX disorder of sex development-anorectal anomalies syndrome' SubClassOf '46,XX disorder of sex development' '46,XX disorder of sex development-anorectal anomalies syndrome' SubClassOf 'syndromic anorectal malformation' http://purl.obolibrary.org/obo/MONDO_0017574 chronic intestinal pseudoobstruction 'chronic intestinal pseudoobstruction' SubClassOf 'intestinal motility disease' 'chronic intestinal pseudoobstruction' SubClassOf 'has modifier' some 'rare' 'chronic intestinal pseudoobstruction' SubClassOf 'ileus' http://purl.obolibrary.org/obo/MONDO_0017575 mitochondrial neurogastrointestinal encephalomyopathy 'mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf 'inborn disorder of pyrimidine metabolism' 'mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf 'eyelids malposition disorder' 'mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf 'inborn mitochondrial myopathy' 'mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf 'genetic peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0017576 46,XX disorder of sex development '46,XX disorder of sex development' SubClassOf 'difference of sexual differentiation' http://purl.obolibrary.org/obo/MONDO_0017570 leukocyte adhesion deficiency 'leukocyte adhesion deficiency' SubClassOf 'functional neutrophil defect' 'leukocyte adhesion deficiency' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0017571 Proteus-like syndrome 'Proteus-like syndrome' SubClassOf 'inherited skin tumor' 'Proteus-like syndrome' SubClassOf 'disease shares features of' some 'Proteus syndrome' http://purl.obolibrary.org/obo/MONDO_0017580 11p15.4 microduplication syndrome '11p15.4 microduplication syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' '11p15.4 microduplication syndrome' SubClassOf 'partial duplication of the short arm of chromosome 11' '11p15.4 microduplication syndrome' SubClassOf 'overgrowth syndrome' '11p15.4 microduplication syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0017581 familial infantile gigantism 'familial infantile gigantism' SubClassOf 'endocrine system disease' http://purl.obolibrary.org/obo/MONDO_0017583 mirror polydactyly-vertebral segmentation-limbs defects syndrome 'mirror polydactyly-vertebral segmentation-limbs defects syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0017593 juvenile amyotrophic lateral sclerosis 'juvenile amyotrophic lateral sclerosis' SubClassOf 'familial amyotrophic lateral sclerosis' http://purl.obolibrary.org/obo/MONDO_0011299 Huntington disease-like 1 'Huntington disease-like 1' SubClassOf 'Huntington disease and related disorders' 'Huntington disease-like 1' SubClassOf 'movement disorder' 'Huntington disease-like 1' SubClassOf 'inherited prion disease' http://purl.obolibrary.org/obo/MONDO_0011291 congenital disorder of glycosylation type 1C 'congenital disorder of glycosylation type 1C' SubClassOf 'congenital nervous system disorder' 'congenital disorder of glycosylation type 1C' SubClassOf 'neurometabolic disease' 'congenital disorder of glycosylation type 1C' SubClassOf 'disorder of protein N-glycosylation' 'congenital disorder of glycosylation type 1C' SubClassOf 'congenital disorder of glycosylation type I' http://purl.obolibrary.org/obo/MONDO_0013907 bilateral generalized polymicrogyria 'bilateral generalized polymicrogyria' SubClassOf 'bilateral polymicrogyria' 'bilateral generalized polymicrogyria' SubClassOf 'microcephalic primordial dwarfism due to RTTN deficiency' http://purl.obolibrary.org/obo/MONDO_0013905 autosomal recessive spinocerebellar ataxia 13 'autosomal recessive spinocerebellar ataxia 13' SubClassOf 'autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome' http://purl.obolibrary.org/obo/MONDO_0013918 distal tetrasomy 15q 'distal tetrasomy 15q' SubClassOf '15q overgrowth syndrome' http://purl.obolibrary.org/obo/MONDO_0013925 methylmalonic acidemia with homocystinuria, type cblJ 'methylmalonic acidemia with homocystinuria, type cblJ' SubClassOf 'methylmalonic aciduria and homocystinuria' http://purl.obolibrary.org/obo/MONDO_0013922 Seckel syndrome 7 'Seckel syndrome 7' SubClassOf 'Seckel syndrome' http://purl.obolibrary.org/obo/MONDO_0013934 combined immunodeficiency due to STK4 deficiency 'combined immunodeficiency due to STK4 deficiency' SubClassOf 'non-SCID combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0013947 young adult-onset distal hereditary motor neuropathy 'young adult-onset distal hereditary motor neuropathy' SubClassOf 'autosomal recessive distal hereditary motor neuropathy' 'young adult-onset distal hereditary motor neuropathy' SubClassOf 'spinal muscular atrophy' http://purl.obolibrary.org/obo/MONDO_0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation 'autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation' SubClassOf 'hereditary disorder of connective tissue' 'autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation' SubClassOf 'autoinflammatory syndrome' http://purl.obolibrary.org/obo/MONDO_0013941 metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria 'metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013957 mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency 'mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency' SubClassOf 'inherited susceptibility to mycobacterial diseases' http://purl.obolibrary.org/obo/MONDO_0013955 mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency 'mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency' SubClassOf 'inherited susceptibility to mycobacterial diseases' http://purl.obolibrary.org/obo/MONDO_0013956 mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency 'mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency' SubClassOf 'immunodeficiency 31B' 'mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency' SubClassOf 'inherited susceptibility to mycobacterial diseases' http://purl.obolibrary.org/obo/MONDO_0013959 Charcot-Marie-Tooth disease type 4F 'Charcot-Marie-Tooth disease type 4F' SubClassOf 'Charcot-Marie-Tooth disease type 4' http://purl.obolibrary.org/obo/MONDO_0013954 mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency 'mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency' SubClassOf 'inherited susceptibility to mycobacterial diseases' http://purl.obolibrary.org/obo/MONDO_0013968 PGM1-CDG 'PGM1-CDG' SubClassOf 'disorder of protein N-glycosylation' 'PGM1-CDG' SubClassOf 'familial dilated cardiomyopathy' 'PGM1-CDG' SubClassOf 'congenital disorder of glycosylation type I' http://purl.obolibrary.org/obo/MONDO_0013969 combined oxidative phosphorylation defect type 11 'combined oxidative phosphorylation defect type 11' SubClassOf 'combined oxidative phosphorylation deficiency' 'combined oxidative phosphorylation defect type 11' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0011309 familial gestational hyperthyroidism 'familial gestational hyperthyroidism' SubClassOf 'hypertension, pregnancy-induced' 'familial gestational hyperthyroidism' SubClassOf 'Hyperthyroidism' 'familial gestational hyperthyroidism' SubClassOf 'genetic hypertension' http://purl.obolibrary.org/obo/MONDO_0011308 GRACILE syndrome 'GRACILE syndrome' SubClassOf 'genetic disorder' 'GRACILE syndrome' SubClassOf 'mitochondrial disease' http://purl.obolibrary.org/obo/MONDO_0013960 sinoatrial node dysfunction and deafness 'sinoatrial node dysfunction and deafness' SubClassOf 'disease has feature' some 'sinoatrial node disorder' 'sinoatrial node dysfunction and deafness' SubClassOf 'syndromic genetic hearing loss' 'sinoatrial node dysfunction and deafness' SubClassOf 'genetic cardiac rhythm disease' http://purl.obolibrary.org/obo/MONDO_0011301 pseudohypoparathyroidism type 1B 'pseudohypoparathyroidism type 1B' SubClassOf 'pseudohypoparathyroidism' http://purl.obolibrary.org/obo/MONDO_0011303 focal segmental glomerulosclerosis 1 'focal segmental glomerulosclerosis 1' SubClassOf 'familial idiopathic steroid-resistant nephrotic syndrome' 'focal segmental glomerulosclerosis 1' SubClassOf 'focal segmental glomerulosclerosis' http://purl.obolibrary.org/obo/MONDO_0013962 hereditary spastic paraplegia 53 'hereditary spastic paraplegia 53' SubClassOf 'autosomal recessive complex spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0013977 combined oxidative phosphorylation defect type 13 'combined oxidative phosphorylation defect type 13' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0013971 leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome 'leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome' SubClassOf 'combined oxidative phosphorylation deficiency' 'leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0013970 branched-chain keto acid dehydrogenase kinase deficiency 'branched-chain keto acid dehydrogenase kinase deficiency' SubClassOf 'autosomal recessive disease' 'branched-chain keto acid dehydrogenase kinase deficiency' SubClassOf 'inborn disorder of branched-chain amino acid metabolism' http://purl.obolibrary.org/obo/MONDO_0011327 neuronal intranuclear inclusion disease 'neuronal intranuclear inclusion disease' SubClassOf 'inherited neurodegenerative disorder' 'neuronal intranuclear inclusion disease' SubClassOf 'movement disorder' 'neuronal intranuclear inclusion disease' SubClassOf 'genetic dementia' 'neuronal intranuclear inclusion disease' SubClassOf 'disease arises from feature' some 'neurodegenerative disease' http://purl.obolibrary.org/obo/MONDO_0037939 porphyria 'porphyria' SubClassOf 'porphyrin metabolism disease' http://purl.obolibrary.org/obo/MONDO_0011320 radioulnar synostosis-microcephaly-scoliosis syndrome 'radioulnar synostosis-microcephaly-scoliosis syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0013981 myoclonus, familial 'myoclonus, familial' SubClassOf 'primary myoclonus' 'myoclonus, familial' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0013986 combined oxidative phosphorylation defect type 14 'combined oxidative phosphorylation defect type 14' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0013987 combined oxidative phosphorylation defect type 15 'combined oxidative phosphorylation defect type 15' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0025986 megacystis-microcolon-intestinal hypoperistalsis syndrome 'megacystis-microcolon-intestinal hypoperistalsis syndrome' SubClassOf 'intestinal motility disease' 'megacystis-microcolon-intestinal hypoperistalsis syndrome' SubClassOf 'syndromic renal or urinary tract malformation' 'megacystis-microcolon-intestinal hypoperistalsis syndrome' SubClassOf 'syndromic urogenital tract malformation' 'megacystis-microcolon-intestinal hypoperistalsis syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0011338 Omenn syndrome 'Omenn syndrome' SubClassOf 'T-B- severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0013999 optic nerve edema-splenomegaly syndrome 'optic nerve edema-splenomegaly syndrome' SubClassOf 'hereditary optic neuropathy' http://purl.obolibrary.org/obo/MONDO_0011339 hereditary spastic paraplegia 8 'hereditary spastic paraplegia 8' SubClassOf 'autosomal dominant pure spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0011330 spinocerebellar ataxia type 10 'spinocerebellar ataxia type 10' SubClassOf 'autosomal dominant cerebellar ataxia type IV' http://purl.obolibrary.org/obo/MONDO_0013993 pontocerebellar hypoplasia type 7 'pontocerebellar hypoplasia type 7' SubClassOf 'pontocerebellar hypoplasia' http://purl.obolibrary.org/obo/MONDO_0013991 obesity due to congenital leptin deficiency 'obesity due to congenital leptin deficiency' SubClassOf 'isolated congenital hypogonadotropic hypogonadism' 'obesity due to congenital leptin deficiency' SubClassOf 'genetic non-syndromic obesity' http://purl.obolibrary.org/obo/MONDO_0013992 obesity due to leptin receptor gene deficiency 'obesity due to leptin receptor gene deficiency' SubClassOf 'isolated congenital hypogonadotropic hypogonadism' 'obesity due to leptin receptor gene deficiency' SubClassOf 'genetic non-syndromic obesity' http://purl.obolibrary.org/obo/MONDO_0011334 limb-mammary syndrome 'limb-mammary syndrome' SubClassOf 'congenital limb malformation' 'limb-mammary syndrome' SubClassOf 'deficient breast volume or number' 'limb-mammary syndrome' SubClassOf 'EEC syndrome and related syndrome' 'limb-mammary syndrome' SubClassOf 'dysostosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0013997 focal facial dermal dysplasia type IV 'focal facial dermal dysplasia type IV' SubClassOf 'focal facial dermal dysplasia' http://purl.obolibrary.org/obo/MONDO_0011335 spondyloepimetaphyseal dysplasia with multiple dislocations 'spondyloepimetaphyseal dysplasia with multiple dislocations' SubClassOf 'autosomal dominant disease' 'spondyloepimetaphyseal dysplasia with multiple dislocations' SubClassOf 'spondyloepimetaphyseal dysplasia with joint laxity' http://purl.obolibrary.org/obo/MONDO_0013996 focal facial dermal dysplasia type II 'focal facial dermal dysplasia type II' SubClassOf 'focal facial dermal dysplasia type III' http://purl.obolibrary.org/obo/MONDO_0013990 pontocerebellar hypoplasia type 8 'pontocerebellar hypoplasia type 8' SubClassOf 'pontocerebellar hypoplasia' http://purl.obolibrary.org/obo/MONDO_0011348 non-syndromic polydactyly 'non-syndromic polydactyly' SubClassOf 'polydactyly' 'non-syndromic polydactyly' EquivalentTo 'polydactyly' and ('has modifier' some 'has an isolated presentation') 'non-syndromic polydactyly' SubClassOf 'non-syndromic polydactyly, syndactyly and/or hyperphalangy' 'non-syndromic polydactyly' SubClassOf 'has modifier' some 'has an isolated presentation' 'syndromic disease' DisjointWith 'non-syndromic polydactyly' http://purl.obolibrary.org/obo/MONDO_0011340 congenital tracheal stenosis 'congenital tracheal stenosis' SubClassOf 'has modifier' some 'congenital' 'congenital tracheal stenosis' SubClassOf 'tracheal anomaly' 'congenital tracheal stenosis' SubClassOf 'genetic otorhinolaryngological malformation' http://purl.obolibrary.org/obo/MONDO_0011342 SLC35A1-CDG 'SLC35A1-CDG' SubClassOf 'disorder of multiple glycosylation' 'SLC35A1-CDG' SubClassOf 'congenital disorder of glycosylation type II' 'SLC35A1-CDG' SubClassOf 'neurometabolic disease' 'SLC35A1-CDG' SubClassOf 'nephropathy secondary to a storage or other metabolic disease' 'SLC35A1-CDG' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0011346 xanthinuria type II 'xanthinuria type II' SubClassOf 'hereditary xanthinuria' http://purl.obolibrary.org/obo/MONDO_0011359 acromelic frontonasal dysostosis 'acromelic frontonasal dysostosis' SubClassOf 'acrofacial dysostosis' 'acromelic frontonasal dysostosis' SubClassOf 'frontonasal dysplasia' http://purl.obolibrary.org/obo/MONDO_0011362 myopathy, myofibrillar, 9, with early respiratory failure 'myopathy, myofibrillar, 9, with early respiratory failure' SubClassOf 'TTN-related myopathy' 'myopathy, myofibrillar, 9, with early respiratory failure' SubClassOf 'progressive muscular dystrophy' 'myopathy, myofibrillar, 9, with early respiratory failure' SubClassOf 'autosomal dominant distal myopathy' 'myopathy, myofibrillar, 9, with early respiratory failure' SubClassOf 'inclusion myopathy' http://purl.obolibrary.org/obo/MONDO_0011365 blepharophimosis - intellectual disability syndrome, SBBYS type 'blepharophimosis - intellectual disability syndrome, SBBYS type' SubClassOf 'genetic nervous system disorder' 'blepharophimosis - intellectual disability syndrome, SBBYS type' SubClassOf 'syndromic hypothyroidism' 'blepharophimosis - intellectual disability syndrome, SBBYS type' SubClassOf 'Ohdo syndrome and variants' 'blepharophimosis - intellectual disability syndrome, SBBYS type' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0011376 ventricular fibrillation, paroxysmal familial, type 1 'ventricular fibrillation, paroxysmal familial, type 1' SubClassOf 'paroxysmal familial ventricular fibrillation' 'ventricular fibrillation, paroxysmal familial, type 1' SubClassOf 'genetic cardiac rhythm disease' http://purl.obolibrary.org/obo/MONDO_0011381 dominant beta-thalassemia 'dominant beta-thalassemia' SubClassOf 'beta thalassemia' http://purl.obolibrary.org/obo/MONDO_0011380 leukoencephalopathy with vanishing white matter 'leukoencephalopathy with vanishing white matter' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0011382 sickle cell anemia 'sickle cell anemia' SubClassOf 'secondary avascular necrosis' 'sickle cell anemia' SubClassOf 'sickle cell disease and related diseases' 'sickle cell anemia' SubClassOf 'kidney disease' 'sickle cell anemia' SubClassOf 'congenital hypogonadotropic hypogonadism' 'sickle cell anemia' SubClassOf 'avascular necrosis of genetic origin' 'sickle cell anemia' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0011396 loricrin keratoderma 'loricrin keratoderma' SubClassOf 'isolated diffuse palmoplantar keratoderma' 'loricrin keratoderma' SubClassOf 'autosomal dominant diffuse mutilating palmoplantar keratoderma' 'loricrin keratoderma' SubClassOf 'inherited non-syndromic ichthyosis' http://purl.obolibrary.org/obo/MONDO_0011398 dystrophic epidermolysis bullosa pruriginosa 'dystrophic epidermolysis bullosa pruriginosa' SubClassOf 'epidermolysis bullosa dystrophica' http://purl.obolibrary.org/obo/MONDO_0011397 autosomal dominant cerebellar ataxia, deafness and narcolepsy 'autosomal dominant cerebellar ataxia, deafness and narcolepsy' SubClassOf 'sleep-wake disorder' 'autosomal dominant cerebellar ataxia, deafness and narcolepsy' SubClassOf 'syndromic genetic hearing loss' 'autosomal dominant cerebellar ataxia, deafness and narcolepsy' SubClassOf 'autosomal dominant cerebellar ataxia type I' http://purl.obolibrary.org/obo/MONDO_0011399 alpha thalassemia 'alpha thalassemia' SubClassOf 'alpha-thalassemia and related diseases' 'alpha thalassemia' SubClassOf 'kidney disease' 'alpha thalassemia' SubClassOf 'Thalassemia' http://purl.obolibrary.org/obo/MONDO_0011391 megalencephalic leukoencephalopathy with subcortical cysts 'megalencephalic leukoencephalopathy with subcortical cysts' SubClassOf 'leukodystrophy' 'megalencephalic leukoencephalopathy with subcortical cysts' SubClassOf 'leukoencephalopathy, megalencephalic' http://purl.obolibrary.org/obo/MONDO_0011393 hypoalphalipoproteinemia, primary, 1 'hypoalphalipoproteinemia, primary, 1' SubClassOf 'apolipoprotein A-I deficiency' http://purl.obolibrary.org/obo/MONDO_0011176 intestinal hypomagnesemia 1 'intestinal hypomagnesemia 1' SubClassOf 'familial primary hypomagnesemia with normocalcuria' http://purl.obolibrary.org/obo/MONDO_0011178 infantile convulsions and choreoathetosis 'infantile convulsions and choreoathetosis' SubClassOf 'paroxysmal dyskinesia' 'infantile convulsions and choreoathetosis' SubClassOf 'syndromic disease' 'infantile convulsions and choreoathetosis' SubClassOf 'benign partial infantile seizures' http://purl.obolibrary.org/obo/MONDO_0011170 autosomal recessive limb-girdle muscular dystrophy type 2G 'autosomal recessive limb-girdle muscular dystrophy type 2G' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' 'autosomal recessive limb-girdle muscular dystrophy type 2G' SubClassOf 'qualitative or quantitative defects of telethonin' http://purl.obolibrary.org/obo/MONDO_0011171 odonto-tricho-ungual-digito-palmar syndrome 'odonto-tricho-ungual-digito-palmar syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0023154 fibromatosis multiple non ossifying 'fibromatosis multiple non ossifying' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0011185 Thiel-Behnke corneal dystrophy 'Thiel-Behnke corneal dystrophy' SubClassOf 'epithelial-stromal TGFBI dystrophy' 'Thiel-Behnke corneal dystrophy' SubClassOf 'superficial corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0011184 childhood apraxia of speech 'childhood apraxia of speech' SubClassOf 'genetic nervous system disorder' 'childhood apraxia of speech' SubClassOf 'specific language disorder' http://purl.obolibrary.org/obo/MONDO_0011198 spondyloepimetaphyseal dysplasia, Missouri type 'spondyloepimetaphyseal dysplasia, Missouri type' SubClassOf 'genetic disorder' 'spondyloepimetaphyseal dysplasia, Missouri type' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0011197 hereditary thermosensitive neuropathy 'hereditary thermosensitive neuropathy' SubClassOf 'autosomal dominant hereditary demyelinating motor and sensory neuropathy' http://purl.obolibrary.org/obo/MONDO_0011191 capillary infantile hemangioma 'capillary infantile hemangioma' SubClassOf 'hemangioma' http://purl.obolibrary.org/obo/MONDO_0013802 infantile cerebellar-retinal degeneration 'infantile cerebellar-retinal degeneration' SubClassOf 'inherited retinal dystrophy' 'infantile cerebellar-retinal degeneration' SubClassOf 'neurometabolic disease' 'infantile cerebellar-retinal degeneration' SubClassOf 'tricarboxylic acid cycle disorder' 'infantile cerebellar-retinal degeneration' SubClassOf 'inherited neurodegenerative disorder' 'infantile cerebellar-retinal degeneration' SubClassOf 'eye degenerative disorder' http://purl.obolibrary.org/obo/MONDO_0013808 Maffucci syndrome 'Maffucci syndrome' SubClassOf 'genetic vascular anomaly' 'Maffucci syndrome' SubClassOf 'vascular bone neoplasm' 'Maffucci syndrome' SubClassOf 'hereditary neoplastic syndrome' 'Maffucci syndrome' SubClassOf 'overgrowth syndrome' 'Maffucci syndrome' SubClassOf 'skin vascular disease' 'Maffucci syndrome' SubClassOf 'hereditary disorder of connective tissue' 'Maffucci syndrome' SubClassOf 'inherited skin tumor' http://purl.obolibrary.org/obo/MONDO_0013806 familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome 'familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome' SubClassOf 'genetic skin disease' 'familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome' SubClassOf 'hereditary neoplastic syndrome' 'familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome' SubClassOf 'skin vascular disease' http://purl.obolibrary.org/obo/MONDO_0013800 Ehlers-Danlos syndrome, kyphoscoliotic and deafness type 'Ehlers-Danlos syndrome, kyphoscoliotic and deafness type' SubClassOf 'kyphoscoliotic Ehlers-Danlos syndrome' http://purl.obolibrary.org/obo/MONDO_0013815 FGFR2-related bent bone dysplasia 'FGFR2-related bent bone dysplasia' SubClassOf 'bent bone dysplasia' 'FGFR2-related bent bone dysplasia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013813 dystonia 21 'dystonia 21' SubClassOf 'generalized isolated dystonia' http://purl.obolibrary.org/obo/MONDO_0013811 combined oxidative phosphorylation defect type 9 'combined oxidative phosphorylation defect type 9' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0013825 congenital diarrhea 6 'congenital diarrhea 6' SubClassOf 'congenital diarrhea' 'congenital diarrhea 6' SubClassOf 'intestinal motility disease' 'congenital diarrhea 6' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0013836 familial steroid-resistant nephrotic syndrome with sensorineural deafness 'familial steroid-resistant nephrotic syndrome with sensorineural deafness' SubClassOf 'syndromic genetic hearing loss' 'familial steroid-resistant nephrotic syndrome with sensorineural deafness' SubClassOf 'coenzyme Q10 deficiency' 'familial steroid-resistant nephrotic syndrome with sensorineural deafness' SubClassOf 'familial idiopathic steroid-resistant nephrotic syndrome' http://purl.obolibrary.org/obo/MONDO_0013837 deafness-encephaloneuropathy-obesity-valvulopathy syndrome 'deafness-encephaloneuropathy-obesity-valvulopathy syndrome' SubClassOf 'coenzyme Q10 deficiency' http://purl.obolibrary.org/obo/MONDO_0013839 hereditary sensory and autonomic neuropathy type 6 'hereditary sensory and autonomic neuropathy type 6' SubClassOf 'autosomal recessive hereditary sensory and autonomic neuropathy' http://purl.obolibrary.org/obo/MONDO_0013847 chromosome 16p11.2 duplication syndrome 'chromosome 16p11.2 duplication syndrome' SubClassOf 'genetic nervous system disorder' 'chromosome 16p11.2 duplication syndrome' SubClassOf 'partial duplication of the short arm of chromosome 16' 'chromosome 16p11.2 duplication syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0013840 encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome 'encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome' SubClassOf 'coenzyme Q10 deficiency' http://purl.obolibrary.org/obo/MONDO_0013843 intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency 'intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency' SubClassOf 'has modifier' some 'rare' 'intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency' SubClassOf 'ileus' 'intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency' SubClassOf 'genetic disorder' 'intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency' SubClassOf 'intestinal motility disease' http://purl.obolibrary.org/obo/MONDO_0013851 autosomal dominant aplasia and myelodysplasia 'autosomal dominant aplasia and myelodysplasia' SubClassOf 'bone marrow failure syndrome' 'autosomal dominant aplasia and myelodysplasia' SubClassOf 'inherited aplastic anemia' http://purl.obolibrary.org/obo/MONDO_0013869 adenine phosphoribosyltransferase deficiency 'adenine phosphoribosyltransferase deficiency' SubClassOf 'inherited amino acid metabolic disorder' 'adenine phosphoribosyltransferase deficiency' SubClassOf 'inborn disorder of purine metabolism' 'adenine phosphoribosyltransferase deficiency' SubClassOf 'nephropathy secondary to a storage or other metabolic disease' http://purl.obolibrary.org/obo/MONDO_0011208 malignant atrophic papulosis 'malignant atrophic papulosis' SubClassOf 'has modifier' some 'rare' 'malignant atrophic papulosis' SubClassOf 'skin vascular disease' http://purl.obolibrary.org/obo/MONDO_0011200 torsion dystonia 7 'torsion dystonia 7' SubClassOf 'inherited dystonia' 'torsion dystonia 7' SubClassOf 'focal dystonia' http://purl.obolibrary.org/obo/MONDO_0011202 RHYNS syndrome 'RHYNS syndrome' SubClassOf 'syndromic retinitis pigmentosa' 'RHYNS syndrome' SubClassOf 'inherited renal tubular disease' http://purl.obolibrary.org/obo/MONDO_0013865 mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 'mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0013866 neuronal ceroid lipofuscinosis 11 'neuronal ceroid lipofuscinosis 11' SubClassOf 'adult neuronal ceroid lipofuscinosis' http://purl.obolibrary.org/obo/MONDO_0011217 desmosterolosis 'desmosterolosis' SubClassOf 'neonatal osteosclerotic dysplasia' 'desmosterolosis' SubClassOf 'cholesterol biosynthetic process disease' http://purl.obolibrary.org/obo/MONDO_0011219 Fried's tooth and nail syndrome 'Fried's tooth and nail syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0011218 autosomal recessive congenital ichthyosis 11 'autosomal recessive congenital ichthyosis 11' SubClassOf 'autosomal recessive congenital ichthyosis' 'autosomal recessive congenital ichthyosis 11' SubClassOf 'isolated genetic hair shaft abnormality' 'autosomal recessive congenital ichthyosis 11' SubClassOf 'genetic alopecia' http://purl.obolibrary.org/obo/MONDO_0013873 IMAGe syndrome 'IMAGe syndrome' SubClassOf 'genetic disorder' 'IMAGe syndrome' SubClassOf 'syndromic disease' 'IMAGe syndrome' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0011211 axial spondylometaphyseal dysplasia 'axial spondylometaphyseal dysplasia' SubClassOf 'spondylometaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0013870 TMEM165-CDG 'TMEM165-CDG' SubClassOf 'congenital nervous system disorder' 'TMEM165-CDG' SubClassOf 'neurometabolic disease' 'TMEM165-CDG' SubClassOf 'congenital disorder of glycosylation-related bone disorder' 'TMEM165-CDG' SubClassOf 'congenital disorder of glycosylation type II' 'TMEM165-CDG' SubClassOf 'disorder of protein N-glycosylation' http://purl.obolibrary.org/obo/MONDO_0011215 osteocraniostenosis 'osteocraniostenosis' SubClassOf 'genetic disorder' 'osteocraniostenosis' SubClassOf 'slender bone dysplasia' http://purl.obolibrary.org/obo/MONDO_0011214 progressive familial intrahepatic cholestasis type 3 'progressive familial intrahepatic cholestasis type 3' SubClassOf 'progressive familial intrahepatic cholestasis' http://purl.obolibrary.org/obo/MONDO_0013875 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome '3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome' SubClassOf 'syndromic genetic hearing loss' '3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome' SubClassOf 'cerebral organic aciduria' '3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome' SubClassOf 'disorder of phospholipids, sphingolipids and fatty acids biosynthesis' '3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome' SubClassOf 'syndromic dyslipidemia' '3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome' SubClassOf 'inborn mitochondrial metabolism disorder' '3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome' SubClassOf '3-methylglutaconic aciduria' '3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0011227 short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome 'short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome' SubClassOf 'mesomelic and rhizo-mesomelic dysplasia' 'short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome' SubClassOf 'genetic otorhinolaryngological malformation' 'short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome' SubClassOf 'congenital nervous system disorder' 'short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0013889 short stature-optic atrophy-Pelger-HuC+t anomaly syndrome 'short stature-optic atrophy-Pelger-HuC+t anomaly syndrome' SubClassOf 'syndromic hereditary optic neuropathy' 'short stature-optic atrophy-Pelger-HuC+t anomaly syndrome' SubClassOf 'genetic disorder' 'short stature-optic atrophy-Pelger-HuC+t anomaly syndrome' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0011229 ethylmalonic encephalopathy 'ethylmalonic encephalopathy' SubClassOf 'unspecified inborn mitochondrial disorder' http://purl.obolibrary.org/obo/MONDO_0013881 congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome 'congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome' SubClassOf 'junctional epidermolysis bullosa' 'congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome' SubClassOf 'has modifier' some 'congenital' 'congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome' SubClassOf 'primary interstitial lung disease specific to childhood' 'congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome' SubClassOf 'disease of glomerular basement membrane' http://purl.obolibrary.org/obo/MONDO_0011223 amyotrophic lateral sclerosis type 4 'amyotrophic lateral sclerosis type 4' SubClassOf 'familial amyotrophic lateral sclerosis' http://purl.obolibrary.org/obo/MONDO_0011225 severe combined immunodeficiency due to DCLRE1C deficiency 'severe combined immunodeficiency due to DCLRE1C deficiency' SubClassOf 'DNA repair deficiency' 'severe combined immunodeficiency due to DCLRE1C deficiency' SubClassOf 'T-B- severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0013886 nonprogressive cerebellar atxia with intellectual disability 'nonprogressive cerebellar atxia with intellectual disability' SubClassOf 'autosomal dominant cerebellar ataxia type I' http://purl.obolibrary.org/obo/MONDO_0013894 short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome 'short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome' SubClassOf 'genetic disorder' 'short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome' SubClassOf 'slender bone dysplasia' http://purl.obolibrary.org/obo/MONDO_0013892 C3 glomerulonephritis 'C3 glomerulonephritis' SubClassOf 'hereditary nephritis' 'C3 glomerulonephritis' SubClassOf 'non-immunoglobulin-mediated membranoproliferative glomerulonephritis' http://purl.obolibrary.org/obo/MONDO_0011235 pelvic dysplasia-arthrogryposis of lower limbs syndrome 'pelvic dysplasia-arthrogryposis of lower limbs syndrome' SubClassOf 'dysostosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0013898 karyomegalic interstitial nephritis 'karyomegalic interstitial nephritis' SubClassOf 'hereditary nephritis' 'karyomegalic interstitial nephritis' SubClassOf 'familial cystic renal disease' 'karyomegalic interstitial nephritis' SubClassOf 'interstitial nephritis' http://purl.obolibrary.org/obo/MONDO_0011236 hyperinsulinism due to glucokinase deficiency 'hyperinsulinism due to glucokinase deficiency' SubClassOf 'diazoxide-sensitive diffuse hyperinsulinism' 'hyperinsulinism due to glucokinase deficiency' SubClassOf 'disorder of glycolysis' http://purl.obolibrary.org/obo/MONDO_0013890 congenital myopathy with internal nuclei and atypical cores 'congenital myopathy with internal nuclei and atypical cores' SubClassOf 'congenital myopathy with cores' 'congenital myopathy with internal nuclei and atypical cores' SubClassOf 'centronuclear myopathy' http://purl.obolibrary.org/obo/MONDO_0011244 Marshall-Smith syndrome 'Marshall-Smith syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Marshall-Smith syndrome' SubClassOf 'overgrowth syndrome' http://purl.obolibrary.org/obo/MONDO_0011243 grange syndrome 'grange syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0011246 megaconial type congenital muscular dystrophy 'megaconial type congenital muscular dystrophy' SubClassOf 'congenital muscular dystrophy' 'megaconial type congenital muscular dystrophy' SubClassOf 'disorder of phospholipids, sphingolipids and fatty acids biosynthesis' 'megaconial type congenital muscular dystrophy' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0011248 distal monosomy 13q 'distal monosomy 13q' SubClassOf 'syndromic anorectal malformation' 'distal monosomy 13q' SubClassOf 'partial deletion of the long arm of chromosome 13' http://purl.obolibrary.org/obo/MONDO_0011240 megalencephaly-capillary malformation-polymicrogyria syndrome 'megalencephaly-capillary malformation-polymicrogyria syndrome' SubClassOf 'overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes' 'megalencephaly-capillary malformation-polymicrogyria syndrome' SubClassOf 'genetic nervous system disorder' 'megalencephaly-capillary malformation-polymicrogyria syndrome' SubClassOf 'disease has feature' some 'capillary malformation' http://purl.obolibrary.org/obo/MONDO_0023243 glass-chapman-hockley syndrome 'glass-chapman-hockley syndrome' SubClassOf 'autosomal dominant disease' 'glass-chapman-hockley syndrome' SubClassOf 'craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0011253 craniomicromelic syndrome 'craniomicromelic syndrome' SubClassOf 'syndromic craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0011252 spondyloepimetaphyseal dysplasia, Shohat type 'spondyloepimetaphyseal dysplasia, Shohat type' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0011255 mandibulofacial dysostosis-macroblepharon-macrostomia syndrome 'mandibulofacial dysostosis-macroblepharon-macrostomia syndrome' SubClassOf 'dysostosis of genetic origin' 'mandibulofacial dysostosis-macroblepharon-macrostomia syndrome' SubClassOf 'mandibulofacial dysostosis' 'mandibulofacial dysostosis-macroblepharon-macrostomia syndrome' SubClassOf 'branchial arch or oral-acral syndrome' 'mandibulofacial dysostosis-macroblepharon-macrostomia syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://purl.obolibrary.org/obo/MONDO_0011257 MPI-CDG 'MPI-CDG' SubClassOf 'syndromic lymphedema' 'MPI-CDG' SubClassOf 'congenital disorder of glycosylation type I' 'MPI-CDG' SubClassOf 'disorder of protein N-glycosylation' 'MPI-CDG' SubClassOf 'lymphatic malformation' http://purl.obolibrary.org/obo/MONDO_0011264 torsion dystonia 6 'torsion dystonia 6' SubClassOf 'generalized isolated dystonia' http://purl.obolibrary.org/obo/MONDO_0011266 myotonic dystrophy type 2 'myotonic dystrophy type 2' SubClassOf 'myotonic dystrophy' 'myotonic dystrophy type 2' SubClassOf 'eyelids malposition disorder' 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 'spondyloepiphyseal dysplasia' 'spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability' SubClassOf 'orofacial clefting syndrome' 'spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0011275 acromesomelic dysplasia 1, Maroteaux type 'acromesomelic dysplasia 1, Maroteaux type' SubClassOf 'acromesomelic dysplasia' http://purl.obolibrary.org/obo/MONDO_0011274 Muenke syndrome 'Muenke syndrome' SubClassOf 'syndromic craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0011273 H syndrome 'H syndrome' SubClassOf 'type 1 diabetes mellitus' 'H syndrome' SubClassOf 'sinus histiocytosis with massive lymphadenopathy' 'H syndrome' SubClassOf 'syndromic genetic hearing loss' 'H syndrome' SubClassOf 'laryngeal disease' 'H syndrome' SubClassOf 'hyperpigmentation of the skin' 'H syndrome' SubClassOf 'genetic skin disease' 'H syndrome' SubClassOf 'developmental anomaly of metabolic origin' 'H syndrome' SubClassOf 'autoimmune disorder of the nervous system' 'H syndrome' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0011287 craniosynostosis-anal anomalies-porokeratosis syndrome 'craniosynostosis-anal anomalies-porokeratosis syndrome' SubClassOf 'syndromic craniosynostosis' 'craniosynostosis-anal anomalies-porokeratosis syndrome' SubClassOf 'primary bone dysplasia' http://purl.obolibrary.org/obo/MONDO_0011055 distal monosomy 10p 'distal monosomy 10p' SubClassOf 'partial deletion of the short arm of chromosome 10' http://purl.obolibrary.org/obo/MONDO_0011054 autosomal recessive amelia 'autosomal recessive amelia' SubClassOf 'dysostosis of genetic origin' 'autosomal recessive amelia' SubClassOf 'congenital limb malformation' 'autosomal recessive amelia' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0011059 holoprosencephaly-craniosynostosis syndrome 'holoprosencephaly-craniosynostosis syndrome' SubClassOf 'syndromic craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0011050 microcephaly-cardiac defect-lung malsegmentation syndrome 'microcephaly-cardiac defect-lung malsegmentation syndrome' SubClassOf 'heart disease' 'microcephaly-cardiac defect-lung malsegmentation syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0011053 intellectual disability-sparse hair-brachydactyly syndrome 'intellectual disability-sparse hair-brachydactyly syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'intellectual disability-sparse hair-brachydactyly syndrome' SubClassOf 'genetic nervous system disorder' 'intellectual disability-sparse hair-brachydactyly syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'intellectual disability-sparse hair-brachydactyly syndrome' SubClassOf 'BAFopathy' 'intellectual disability-sparse hair-brachydactyly syndrome' SubClassOf 'congenital nervous system disorder' 'intellectual disability-sparse hair-brachydactyly syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0011066 Charcot-Marie-Tooth disease type 4B1 'Charcot-Marie-Tooth disease type 4B1' SubClassOf 'Charcot-Marie-Tooth disease type 4' http://purl.obolibrary.org/obo/MONDO_0011065 Hunter-McAlpine craniosynostosis 'Hunter-McAlpine craniosynostosis' SubClassOf 'syndromic craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0011060 early-onset non-syndromic cataract 'early-onset non-syndromic cataract' SubClassOf 'non-syndromic developmental defect of the eye' 'early-onset non-syndromic cataract' SubClassOf 'cataract' http://purl.obolibrary.org/obo/MONDO_0011062 aprosencephaly cerebellar dysgenesis 'aprosencephaly cerebellar dysgenesis' SubClassOf 'midline cerebral malformation' http://purl.obolibrary.org/obo/MONDO_0011064 lethal chondrodysplasia, Seller type 'lethal chondrodysplasia, Seller type' SubClassOf 'lethal chondrodysplasia' http://purl.obolibrary.org/obo/MONDO_0011063 hidrotic ectodermal dysplasia, Christianson-Fourie type 'hidrotic ectodermal dysplasia, Christianson-Fourie type' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0011076 myofibrillar myopathy 1 'myofibrillar myopathy 1' SubClassOf 'autosomal dominant distal myopathy' 'myofibrillar myopathy 1' SubClassOf 'inclusion myopathy' 'myofibrillar myopathy 1' SubClassOf 'qualitative or quantitative defects of desmin' 'myofibrillar myopathy 1' SubClassOf 'familial dilated cardiomyopathy' 'myofibrillar myopathy 1' SubClassOf 'familial restrictive cardiomyopathy' 'myofibrillar myopathy 1' SubClassOf 'myofibrillar myopathy' http://purl.obolibrary.org/obo/MONDO_0011079 rhizomelic dysplasia, Patterson-Lowry type 'rhizomelic dysplasia, Patterson-Lowry type' SubClassOf 'mesomelic and rhizo-mesomelic dysplasia' http://purl.obolibrary.org/obo/MONDO_0011080 progressive deafness with stapes fixation 'progressive deafness with stapes fixation' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0011082 oculoauriculofrontonasal syndrome 'oculoauriculofrontonasal syndrome' SubClassOf 'frontonasal dysplasia' http://purl.obolibrary.org/obo/MONDO_0011081 dislocation of the hip-dysmorphism syndrome 'dislocation of the hip-dysmorphism syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0011083 trichodental syndrome 'trichodental syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'trichodental syndrome' SubClassOf 'syndromic hair shaft abnormality' http://purl.obolibrary.org/obo/MONDO_0011086 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 'severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive' SubClassOf 'T-B- severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0011085 Charcot-Marie-Tooth disease type 4D 'Charcot-Marie-Tooth disease type 4D' SubClassOf 'Charcot-Marie-Tooth disease type 4' http://purl.obolibrary.org/obo/MONDO_0011099 human HOXA1 syndromes 'human HOXA1 syndromes' SubClassOf 'syndromic genetic hearing loss' 'human HOXA1 syndromes' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0011091 Charcot-Marie-Tooth disease type 2D 'Charcot-Marie-Tooth disease type 2D' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://purl.obolibrary.org/obo/MONDO_0011090 isolated hereditary congenital facial paralysis 'isolated hereditary congenital facial paralysis' SubClassOf 'cranial nerve and nuclear aplasia' 'isolated hereditary congenital facial paralysis' SubClassOf 'paralytic facial malformation' 'isolated hereditary congenital facial paralysis' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0011093 mucopolysaccharidosis type 9 'mucopolysaccharidosis type 9' SubClassOf 'has modifier' some 'rare' 'mucopolysaccharidosis type 9' SubClassOf 'bone disease' 'mucopolysaccharidosis type 9' SubClassOf 'mucopolysaccharidosis' http://purl.obolibrary.org/obo/MONDO_0011096 autosomal agammaglobulinemia 'autosomal agammaglobulinemia' SubClassOf 'isolated agammaglobulinemia' http://purl.obolibrary.org/obo/MONDO_0001703 color vision disorder 'color vision disorder' SubClassOf 'blindness (disorder)' http://purl.obolibrary.org/obo/MONDO_0013702 intellectual disability, autosomal recessive 27 'intellectual disability, autosomal recessive 27' SubClassOf 'autosomal recessive non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0013700 pancreatic triacylglycerol lipase deficiency 'pancreatic triacylglycerol lipase deficiency' SubClassOf 'disorder of lipid absorption and transport' http://purl.obolibrary.org/obo/MONDO_0013711 peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome 'peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome' SubClassOf 'autosomal dominant distal hereditary motor neuropathy' 'peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome' SubClassOf 'syndromic genetic hearing loss' 'peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome' SubClassOf 'autosomal dominant distal myopathy' http://purl.obolibrary.org/obo/MONDO_0001734 tuberous sclerosis 'tuberous sclerosis' SubClassOf 'neurocutaneous syndrome' 'tuberous sclerosis' SubClassOf 'autosomal dominant disease' 'tuberous sclerosis' SubClassOf 'disease has feature' some 'hamartoma' 'tuberous sclerosis' SubClassOf 'inherited neurodegenerative disorder' 'tuberous sclerosis' SubClassOf 'hereditary neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0013726 encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 'encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1' SubClassOf 'encephalopathy due to mitochondrial and peroxisomal fission defect' http://purl.obolibrary.org/obo/MONDO_0013737 hereditary spastic paraplegia 46 'hereditary spastic paraplegia 46' SubClassOf 'autosomal recessive complex spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0013735 microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome 'microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome' SubClassOf 'syndromic intellectual disability' 'microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome' SubClassOf 'genetic nervous system disorder' '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 'ventricular septal defect' http://purl.obolibrary.org/obo/MONDO_0013740 lethal occipital encephalocele-skeletal dysplasia syndrome 'lethal occipital encephalocele-skeletal dysplasia syndrome' SubClassOf 'syndromic craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0013742 familial mesial temporal lobe epilepsy with febrile seizures 'familial mesial temporal lobe epilepsy with febrile seizures' SubClassOf 'familial partial epilepsy' 'familial mesial temporal lobe epilepsy with febrile seizures' SubClassOf 'febrile seizures, familial' http://purl.obolibrary.org/obo/MONDO_0013743 autosomal systemic lupus erythematosus type 16 'autosomal systemic lupus erythematosus type 16' SubClassOf 'type 1 interferonopathy' 'autosomal systemic lupus erythematosus type 16' SubClassOf 'hereditary disorder of connective tissue' 'autosomal systemic lupus erythematosus type 16' SubClassOf 'inherited blood coagulation disorder' 'autosomal systemic lupus erythematosus type 16' SubClassOf 'systemic lupus erythematosus' http://purl.obolibrary.org/obo/MONDO_0013759 melanoma, cutaneous malignant, susceptibility to, 8 'melanoma, cutaneous malignant, susceptibility to, 8' SubClassOf 'familial cutaneous melanoma' 'melanoma, cutaneous malignant, susceptibility to, 8' SubClassOf 'hereditary neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0013758 Charcot-Marie-Tooth disease dominant intermediate E 'Charcot-Marie-Tooth disease dominant intermediate E' SubClassOf 'primary glomerular disease' 'Charcot-Marie-Tooth disease dominant intermediate E' SubClassOf 'autosomal dominant intermediate Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0013755 PYCR1-related de Barsy syndrome 'PYCR1-related de Barsy syndrome' SubClassOf 'de Barsy syndrome' 'PYCR1-related de Barsy syndrome' SubClassOf 'inherited cutis laxa' http://purl.obolibrary.org/obo/MONDO_0013753 Charcot-Marie-Tooth disease axonal type 2P 'Charcot-Marie-Tooth disease axonal type 2P' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'Charcot-Marie-Tooth disease axonal type 2P' SubClassOf 'autosomal recessive axonal hereditary motor and sensory neuropathy' http://purl.obolibrary.org/obo/MONDO_0011107 congenital hypotrichosis with juvenile macular dystrophy 'congenital hypotrichosis with juvenile macular dystrophy' SubClassOf 'ectodermal dysplasia syndrome' 'congenital hypotrichosis with juvenile macular dystrophy' SubClassOf 'hypotrichosis' 'congenital hypotrichosis with juvenile macular dystrophy' SubClassOf 'has modifier' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0011109 multiple epiphyseal dysplasia, Lowry type 'multiple epiphyseal dysplasia, Lowry type' SubClassOf 'multiple epiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0011108 Stüve-Wiedemann syndrome 'Stüve-Wiedemann syndrome' SubClassOf 'bent bone dysplasia' 'Stüve-Wiedemann syndrome' SubClassOf 'Schwartz-Jampel syndrome' http://purl.obolibrary.org/obo/MONDO_0013762 lipoic acid synthetase deficiency 'lipoic acid synthetase deficiency' SubClassOf 'pyruvate dehydrogenase deficiency' 'lipoic acid synthetase deficiency' SubClassOf 'inherited lipoic acid biosynthesis defect' http://purl.obolibrary.org/obo/MONDO_0013760 congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome 'congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome' SubClassOf 'congenital nervous system disorder' 'congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome' SubClassOf 'disorder of phospholipids, sphingolipids and fatty acids biosynthesis' 'congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome' SubClassOf 'syndromic dyslipidemia' 'congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome' SubClassOf 'autosomal ichthyosis syndrome' 'congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0013761 childhood encephalopathy due to thiamine pyrophosphokinase deficiency 'childhood encephalopathy due to thiamine pyrophosphokinase deficiency' SubClassOf 'thiamine-responsive dysfunction syndrome' http://purl.obolibrary.org/obo/MONDO_0013767 autoimmune lymphoproliferative syndrome type 4 'autoimmune lymphoproliferative syndrome type 4' SubClassOf 'autoimmune lymphoproliferative syndrome' http://purl.obolibrary.org/obo/MONDO_0011119 iridogoniodysgenesis 'iridogoniodysgenesis' SubClassOf 'anterior segment dysgenesis' http://purl.obolibrary.org/obo/MONDO_0011110 dyssegmental dysplasia-glaucoma syndrome 'dyssegmental dysplasia-glaucoma syndrome' SubClassOf 'eye disease' 'dyssegmental dysplasia-glaucoma syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0013771 transient infantile hypertriglyceridemia and hepatosteatosis 'transient infantile hypertriglyceridemia and hepatosteatosis' SubClassOf 'genetic parenchymatous liver disease' http://purl.obolibrary.org/obo/MONDO_0013772 congenital cataract-hearing loss-severe developmental delay syndrome 'congenital cataract-hearing loss-severe developmental delay syndrome' SubClassOf 'neurometabolic disease' 'congenital cataract-hearing loss-severe developmental delay syndrome' SubClassOf 'congenital nervous system disorder' 'congenital cataract-hearing loss-severe developmental delay syndrome' SubClassOf 'syndromic cataract' http://purl.obolibrary.org/obo/MONDO_0011114 familial multiple trichoepithelioma 'familial multiple trichoepithelioma' SubClassOf 'Brooke-Spiegler syndrome' http://purl.obolibrary.org/obo/MONDO_0013777 pseudohypoaldosteronism type 2B 'pseudohypoaldosteronism type 2B' SubClassOf 'pseudohypoaldosteronism type 2' http://purl.obolibrary.org/obo/MONDO_0011113 Charcot-Marie-Tooth disease type 4C 'Charcot-Marie-Tooth disease type 4C' SubClassOf 'Charcot-Marie-Tooth disease type 4' http://purl.obolibrary.org/obo/MONDO_0013778 pseudohypoaldosteronism type 2C 'pseudohypoaldosteronism type 2C' SubClassOf 'pseudohypoaldosteronism type 2' http://purl.obolibrary.org/obo/MONDO_0011116 lung agenesis-heart defect-thumb anomalies syndrome 'lung agenesis-heart defect-thumb anomalies syndrome' SubClassOf 'respiratory malformation' 'lung agenesis-heart defect-thumb anomalies syndrome' SubClassOf 'syndromic respiratory or mediastinal malformation' http://purl.obolibrary.org/obo/MONDO_0013776 spastic ataxia 5 'spastic ataxia 5' SubClassOf 'mitochondrial DNA depletion syndrome' 'spastic ataxia 5' SubClassOf 'autosomal recessive spastic ataxia' http://purl.obolibrary.org/obo/MONDO_0011128 Sheldon-hall syndrome 'Sheldon-hall syndrome' SubClassOf 'distal arthrogryposis' http://purl.obolibrary.org/obo/MONDO_0013782 pseudohypoaldosteronism type 2E 'pseudohypoaldosteronism type 2E' SubClassOf 'pseudohypoaldosteronism type 2' http://purl.obolibrary.org/obo/MONDO_0011124 spondyloepimetaphyseal dysplasia-abnormal dentition syndrome 'spondyloepimetaphyseal dysplasia-abnormal dentition syndrome' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0013789 DDOST-CDG 'DDOST-CDG' SubClassOf 'neurometabolic disease' 'DDOST-CDG' SubClassOf 'congenital nervous system disorder' 'DDOST-CDG' SubClassOf 'congenital disorder of glycosylation type I' 'DDOST-CDG' SubClassOf 'disorder of protein N-glycosylation' http://purl.obolibrary.org/obo/MONDO_0011127 obsolete Bartter disease type 1 'obsolete Bartter disease type 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0013781 pseudohypoaldosteronism type 2D 'pseudohypoaldosteronism type 2D' SubClassOf 'pseudohypoaldosteronism type 2' http://purl.obolibrary.org/obo/MONDO_0023122 familial prostate carcinoma 'familial prostate carcinoma' SubClassOf 'genetic disorder' 'familial prostate carcinoma' EquivalentTo 'prostate carcinoma' and ('has modifier' some 'inherited') 'familial prostate carcinoma' SubClassOf 'prostate carcinoma' http://purl.obolibrary.org/obo/MONDO_0011132 T-cell immunodeficiency, congenital alopecia, and nail dystrophy 'T-cell immunodeficiency, congenital alopecia, and nail dystrophy' SubClassOf 'has modifier' some 'congenital' 'T-cell immunodeficiency, congenital alopecia, and nail dystrophy' SubClassOf 'severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0011131 tricho-oculo-dermo-vertebral syndrome 'tricho-oculo-dermo-vertebral syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0013796 chromosome 17q12 duplication syndrome 'chromosome 17q12 duplication syndrome' SubClassOf 'partial duplication of the long arm of chromosome 17' http://purl.obolibrary.org/obo/MONDO_0011134 Curry-Jones syndrome 'Curry-Jones syndrome' SubClassOf 'syndromic craniosynostosis' 'Curry-Jones syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0011133 deaf blind hypopigmentation syndrome, Yemenite type 'deaf blind hypopigmentation syndrome, Yemenite type' SubClassOf 'hypopigmentation of the skin' 'deaf blind hypopigmentation syndrome, Yemenite type' SubClassOf 'genetic skin disease' 'deaf blind hypopigmentation syndrome, Yemenite type' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0011136 Quebec platelet disorder 'Quebec platelet disorder' SubClassOf 'alpha granule disease' 'Quebec platelet disorder' SubClassOf 'inherited bleeding disorder, platelet-type' http://purl.obolibrary.org/obo/MONDO_0013797 chromosome 17q12 deletion syndrome 'chromosome 17q12 deletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 17' http://purl.obolibrary.org/obo/MONDO_0011142 Ehlers-Danlos syndrome, musculocontractural type 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf 'distal arthrogryposis' 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf 'congenital nervous system disorder' 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf 'nephropathy secondary to a storage or other metabolic disease' 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf 'neurometabolic disease' 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf 'heart disease' 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf 'developmental anomaly of metabolic origin' 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf 'disorder of O-xylosylglycan synthesis' 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf 'Ehlers-Danlos syndrome' http://purl.obolibrary.org/obo/MONDO_0011145 colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome 'colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome' SubClassOf 'syndromic microphthalmia' 'colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome' SubClassOf 'syndromic genetic obesity' 'colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0011144 ceroid lipofuscinosis, neuronal, 6A 'ceroid lipofuscinosis, neuronal, 6A' SubClassOf 'late infantile neuronal ceroid lipofuscinosis' 'ceroid lipofuscinosis, neuronal, 6A' SubClassOf 'ceroid lipofuscinosis, neuronal, 6B (Kufs type)' http://purl.obolibrary.org/obo/MONDO_0011147 chromosome 18q deletion syndrome 'chromosome 18q deletion syndrome' SubClassOf 'syndromic disease' 'chromosome 18q deletion syndrome' SubClassOf 'genetic nervous system disorder' 'chromosome 18q deletion syndrome' SubClassOf 'epilepsy' 'chromosome 18q deletion syndrome' SubClassOf 'partial deletion of chromosome 18' 'chromosome 18q deletion syndrome' SubClassOf 'disease has major feature' some 'cataract' http://purl.obolibrary.org/obo/MONDO_0011146 tetrasomy 12p 'tetrasomy 12p' SubClassOf 'syndromic diaphragmatic or thoracic malformation' 'tetrasomy 12p' SubClassOf 'genetic nervous system disorder' 'tetrasomy 12p' SubClassOf 'syndromic diaphragmatic or abdominal wall malformation' 'tetrasomy 12p' SubClassOf 'epilepsy' 'tetrasomy 12p' SubClassOf 'partial trisomy/tetrasomy of the short arm of chromosome 12' 'tetrasomy 12p' SubClassOf 'syndromic anorectal malformation' 'tetrasomy 12p' SubClassOf 'overgrowth syndrome' http://purl.obolibrary.org/obo/MONDO_0011154 acrofacial dysostosis, Palagonia type 'acrofacial dysostosis, Palagonia type' SubClassOf 'acrofacial dysostosis' 'acrofacial dysostosis, Palagonia type' SubClassOf 'branchial arch or oral-acral syndrome' http://purl.obolibrary.org/obo/MONDO_0011156 progressive familial intrahepatic cholestasis type 2 'progressive familial intrahepatic cholestasis type 2' SubClassOf 'benign recurrent intrahepatic cholestasis type 2' 'progressive familial intrahepatic cholestasis type 2' SubClassOf 'progressive familial intrahepatic cholestasis' http://purl.obolibrary.org/obo/MONDO_0011157 Gomez-Lopez-Hernandez syndrome 'Gomez-Lopez-Hernandez syndrome' SubClassOf 'syndromic intellectual disability' 'Gomez-Lopez-Hernandez syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Gomez-Lopez-Hernandez syndrome' SubClassOf 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0011150 acroosteolysis-keloid-like lesions-premature aging syndrome 'acroosteolysis-keloid-like lesions-premature aging syndrome' SubClassOf 'progeroid syndrome' 'acroosteolysis-keloid-like lesions-premature aging syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0011152 PHGDH deficiency 'PHGDH deficiency' SubClassOf '3-phosphoglycerate dehydrogenase deficiency' 'PHGDH deficiency' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0011166 lymphedema-atrial septal defects-facial changes syndrome 'lymphedema-atrial septal defects-facial changes syndrome' SubClassOf 'syndromic lymphedema' 'lymphedema-atrial septal defects-facial changes syndrome' SubClassOf 'primary lymphedema' http://purl.obolibrary.org/obo/MONDO_0011169 keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome 'keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome' SubClassOf 'inherited non-syndromic ichthyosis' 'keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome' SubClassOf 'autosomal dominant diffuse mutilating palmoplantar keratoderma' 'keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome' SubClassOf 'isolated diffuse palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0013598 myostatin-related muscle hypertrophy 'myostatin-related muscle hypertrophy' SubClassOf 'genetic disorder' 'myostatin-related muscle hypertrophy' SubClassOf 'muscle tissue disorder' 'myostatin-related muscle hypertrophy' SubClassOf 'disease has feature' some 'myostatin-related muscle hypertrophy' http://purl.obolibrary.org/obo/MONDO_0013595 hyperbiliverdinemia 'hyperbiliverdinemia' SubClassOf 'has modifier' some 'rare' 'hyperbiliverdinemia' SubClassOf 'liver disease' 'hyperbiliverdinemia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome 'autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome' SubClassOf 'chronic mucocutaneous candidiasis' 'autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome' SubClassOf 'autoimmune polyendocrinopathy' 'autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome' SubClassOf 'autoimmune enteropathy' 'autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome' SubClassOf 'immunodeficiency 31B' http://purl.obolibrary.org/obo/MONDO_0013594 spinocerebellar ataxia type 36 'spinocerebellar ataxia type 36' SubClassOf 'autosomal dominant cerebellar ataxia type I' http://purl.obolibrary.org/obo/MONDO_0013606 Hermansky-Pudlak syndrome 9 'Hermansky-Pudlak syndrome 9' SubClassOf 'genetic hemophagocytic lymphohistiocytosis' 'Hermansky-Pudlak syndrome 9' SubClassOf 'Hermansky-Pudlak syndrome' http://purl.obolibrary.org/obo/MONDO_0013607 monocytopenia with susceptibility to infections 'monocytopenia with susceptibility to infections' SubClassOf 'quantitative and/or qualitative congenital phagocyte defect' 'monocytopenia with susceptibility to infections' SubClassOf 'GATA2 deficiency with susceptibility to MDS/AML' http://purl.obolibrary.org/obo/MONDO_0013614 hypertelorism-preauricular sinus-punctual pits-deafness syndrome 'hypertelorism-preauricular sinus-punctual pits-deafness syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0013615 craniosynostosis and dental anomalies 'craniosynostosis and dental anomalies' SubClassOf 'syndromic craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0013623 platelet-type bleeding disorder 11 'platelet-type bleeding disorder 11' SubClassOf 'bleeding diathesis due to a collagen receptor defect' http://purl.obolibrary.org/obo/MONDO_0013621 LAMB2-related infantile-onset nephrotic syndrome 'LAMB2-related infantile-onset nephrotic syndrome' SubClassOf 'familial nephrotic syndrome' 'LAMB2-related infantile-onset nephrotic syndrome' SubClassOf 'primary glomerular disease' http://purl.obolibrary.org/obo/MONDO_0013622 platelet-type bleeding disorder 9 'platelet-type bleeding disorder 9' SubClassOf 'bleeding diathesis due to a collagen receptor defect' http://purl.obolibrary.org/obo/MONDO_0013648 familial progressive hyperpigmentation 'familial progressive hyperpigmentation' SubClassOf 'hyperpigmentation of the skin' http://purl.obolibrary.org/obo/MONDO_0013640 familial retinal arterial macroaneurysm 'familial retinal arterial macroaneurysm' SubClassOf 'genetic central nervous system and retinal vascular disease' 'familial retinal arterial macroaneurysm' SubClassOf 'heart disease' 'familial retinal arterial macroaneurysm' SubClassOf 'inherited vitreous-retinal disease' http://purl.obolibrary.org/obo/MONDO_0013645 autosomal recessive spinocerebellar ataxia 11 'autosomal recessive spinocerebellar ataxia 11' SubClassOf 'autosomal recessive syndromic cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0013646 chromosome 8q21.11 deletion syndrome 'chromosome 8q21.11 deletion syndrome' SubClassOf 'genetic nervous system disorder' 'chromosome 8q21.11 deletion syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'chromosome 8q21.11 deletion syndrome' SubClassOf 'congenital nervous system disorder' 'chromosome 8q21.11 deletion syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'chromosome 8q21.11 deletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 8' 'chromosome 8q21.11 deletion syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0013644 Charcot-Marie-Tooth disease axonal type 2O 'Charcot-Marie-Tooth disease axonal type 2O' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://purl.obolibrary.org/obo/MONDO_0001676 erythropoietic protoporphyria 'erythropoietic protoporphyria' SubClassOf 'inherited porphyria' 'erythropoietic protoporphyria' SubClassOf 'hepatic porphyria' http://purl.obolibrary.org/obo/MONDO_0013659 microcephaly-capillary malformation syndrome 'microcephaly-capillary malformation syndrome' SubClassOf 'disease has feature' some 'capillary malformation' 'microcephaly-capillary malformation syndrome' SubClassOf 'genetic disorder' 'microcephaly-capillary malformation syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0011008 cleft lip/palate-intestinal malrotation-cardiopathy syndrome 'cleft lip/palate-intestinal malrotation-cardiopathy syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'cleft lip/palate-intestinal malrotation-cardiopathy syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'cleft lip/palate-intestinal malrotation-cardiopathy syndrome' SubClassOf 'orofacial clefting syndrome' http://purl.obolibrary.org/obo/MONDO_0011007 diaphragmatic defect-limb deficiency-skull defect syndrome 'diaphragmatic defect-limb deficiency-skull defect syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'diaphragmatic defect-limb deficiency-skull defect syndrome' SubClassOf 'syndromic diaphragmatic or thoracic malformation' 'diaphragmatic defect-limb deficiency-skull defect syndrome' SubClassOf 'syndromic diaphragmatic or abdominal wall malformation' http://purl.obolibrary.org/obo/MONDO_0013661 combined malonic and methylmalonic acidemia 'combined malonic and methylmalonic acidemia' SubClassOf 'classic organic aciduria' 'combined malonic and methylmalonic acidemia' SubClassOf 'methylmalonic acidemia' http://purl.obolibrary.org/obo/MONDO_0011004 lissencephaly type 3-metacarpal bone dysplasia syndrome 'lissencephaly type 3-metacarpal bone dysplasia syndrome' SubClassOf 'lissencephaly type 3' http://purl.obolibrary.org/obo/MONDO_0013668 tetrasomy 18p 'tetrasomy 18p' SubClassOf 'partial trisomy/tetrasomy of the short arm of chromosome 18' http://purl.obolibrary.org/obo/MONDO_0011019 alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome 'alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome' SubClassOf 'alopecia' http://purl.obolibrary.org/obo/MONDO_0011018 brachyolmia-amelogenesis imperfecta syndrome 'brachyolmia-amelogenesis imperfecta syndrome' SubClassOf 'musculoskeletal system disease' 'brachyolmia-amelogenesis imperfecta syndrome' SubClassOf 'genetic disorder' 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 'congenital limb malformation' 'skeletal dysplasia-epilepsy-short stature syndrome' SubClassOf 'syndromic intellectual disability' 'skeletal dysplasia-epilepsy-short stature syndrome' SubClassOf 'genetic nervous system disorder' 'skeletal dysplasia-epilepsy-short stature syndrome' SubClassOf 'dysostosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0013674 neurodegeneration with brain iron accumulation 4 'neurodegeneration with brain iron accumulation 4' SubClassOf 'neurodegeneration with brain iron accumulation' 'neurodegeneration with brain iron accumulation 4' SubClassOf 'syndromic hereditary optic neuropathy' 'neurodegeneration with brain iron accumulation 4' SubClassOf 'eye degenerative disorder' http://purl.obolibrary.org/obo/MONDO_0011010 Matthew-Wood syndrome 'Matthew-Wood syndrome' SubClassOf 'syndromic respiratory or mediastinal malformation' 'Matthew-Wood syndrome' SubClassOf 'respiratory malformation' 'Matthew-Wood syndrome' SubClassOf 'syndromic diaphragmatic or abdominal wall malformation' 'Matthew-Wood syndrome' SubClassOf 'syndromic diaphragmatic or thoracic malformation' 'Matthew-Wood syndrome' SubClassOf 'syndromic microphthalmia' 'Matthew-Wood syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Matthew-Wood syndrome' SubClassOf 'thoracic malformation' http://purl.obolibrary.org/obo/MONDO_0013675 multiple mitochondrial dysfunctions syndrome 2 'multiple mitochondrial dysfunctions syndrome 2' SubClassOf 'fatal multiple mitochondrial dysfunctions syndrome' http://purl.obolibrary.org/obo/MONDO_0011012 African iron overload 'African iron overload' SubClassOf 'hereditary hemochromatosis' 'African iron overload' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0013678 EDICT syndrome 'EDICT syndrome' SubClassOf 'syndromic keratoconus' http://purl.obolibrary.org/obo/MONDO_0011017 Naxos disease 'Naxos disease' SubClassOf 'familial cardiomyopathy' 'Naxos disease' SubClassOf 'arrhythmogenic right ventricular cardiomyopathy' 'Naxos disease' SubClassOf 'cardioectodermal syndrome' 'Naxos disease' SubClassOf 'autosomal recessive disease' 'Naxos disease' SubClassOf 'diffuse palmoplantar keratoderma' 'Naxos disease' SubClassOf 'syndromic hair shaft abnormality' http://purl.obolibrary.org/obo/MONDO_0011022 Potocki-Shaffer syndrome 'Potocki-Shaffer syndrome' SubClassOf 'partial deletion of the short arm of chromosome 11' 'Potocki-Shaffer syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0011023 hereditary mixed polyposis syndrome 'hereditary mixed polyposis syndrome' SubClassOf 'genetic intestinal polyposis' 'hereditary mixed polyposis syndrome' SubClassOf 'intestinal polyposis syndrome' http://purl.obolibrary.org/obo/MONDO_0011025 Cayman type cerebellar ataxia 'Cayman type cerebellar ataxia' SubClassOf 'autosomal recessive congenital cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0011028 autosomal recessive limb-girdle muscular dystrophy type 2F 'autosomal recessive limb-girdle muscular dystrophy type 2F' SubClassOf 'qualitative or quantitative defects of delta-sarcoglycan' 'autosomal recessive limb-girdle muscular dystrophy type 2F' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' 'autosomal recessive limb-girdle muscular dystrophy type 2F' SubClassOf 'familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0013687 autosomal recessive spinocerebellar ataxia 12 'autosomal recessive spinocerebellar ataxia 12' SubClassOf 'autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0013688 linear and whorled nevoid hypermelanosis 'linear and whorled nevoid hypermelanosis' SubClassOf 'hyperpigmentation of the skin' 'linear and whorled nevoid hypermelanosis' SubClassOf 'Becker nevus syndrome' 'linear and whorled nevoid hypermelanosis' SubClassOf 'hamartoma' http://purl.obolibrary.org/obo/MONDO_0011020 osteoporosis-oculocutaneous hypopigmentation syndrome 'osteoporosis-oculocutaneous hypopigmentation syndrome' SubClassOf 'genetic disorder' 'osteoporosis-oculocutaneous hypopigmentation syndrome' SubClassOf 'musculoskeletal system disease' http://purl.obolibrary.org/obo/MONDO_0011035 neurofibromatosis-Noonan syndrome 'neurofibromatosis-Noonan syndrome' SubClassOf 'genetic skin disease' 'neurofibromatosis-Noonan syndrome' SubClassOf 'rasopathy' 'neurofibromatosis-Noonan syndrome' SubClassOf 'neurofibromatosis' 'neurofibromatosis-Noonan syndrome' SubClassOf 'developmental defect during embryogenesis' 'neurofibromatosis-Noonan syndrome' SubClassOf 'hyperpigmentation of the skin' http://purl.obolibrary.org/obo/MONDO_0011034 odontomicronychial dysplasia 'odontomicronychial dysplasia' SubClassOf 'syndromic nail anomaly' http://purl.obolibrary.org/obo/MONDO_0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome 'cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome' SubClassOf 'ATP1A3-associated neurological disorder' 'cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome' SubClassOf 'syndromic hereditary optic neuropathy' 'cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome' SubClassOf 'autosomal dominant cerebellar ataxia type I' 'cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome' SubClassOf 'autosomal dominant optic atrophy plus syndrome' 'cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0013692 BAP1-related tumor predisposition syndrome 'BAP1-related tumor predisposition syndrome' SubClassOf 'hereditary neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0013691 Feingold syndrome type 2 'Feingold syndrome type 2' SubClassOf 'Feingold syndrome' http://purl.obolibrary.org/obo/MONDO_0011046 short stature, Brussels type 'short stature, Brussels type' SubClassOf 'musculoskeletal system disease' 'short stature, Brussels type' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0011045 MMEP syndrome 'MMEP syndrome' SubClassOf 'genetic nervous system disorder' 'MMEP syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'MMEP syndrome' SubClassOf 'syndromic intellectual disability' 'MMEP syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'MMEP syndrome' SubClassOf 'congenital nervous system disorder' 'MMEP syndrome' SubClassOf 'syndromic microphthalmia' http://purl.obolibrary.org/obo/MONDO_0011048 epilepsy-microcephaly-skeletal dysplasia syndrome 'epilepsy-microcephaly-skeletal dysplasia syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '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_0011047 deafness-epiphyseal dysplasia-short stature syndrome 'deafness-epiphyseal dysplasia-short stature syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0011049 fine-Lubinsky syndrome 'fine-Lubinsky syndrome' SubClassOf 'genetic nervous system disorder' 'fine-Lubinsky syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'fine-Lubinsky syndrome' SubClassOf 'congenital nervous system disorder' 'fine-Lubinsky syndrome' SubClassOf 'syndromic cataract' 'fine-Lubinsky syndrome' SubClassOf 'syndromic intellectual disability' 'fine-Lubinsky syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0011041 ectodermal dysplasia with natal teeth, Turnpenny type 'ectodermal dysplasia with natal teeth, Turnpenny type' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0013478 PLIN1-related familial partial lipodystrophy 'PLIN1-related familial partial lipodystrophy' SubClassOf 'familial partial lipodystrophy' 'PLIN1-related familial partial lipodystrophy' SubClassOf 'diabetes mellitus' http://purl.obolibrary.org/obo/MONDO_0013472 fatal infantile hypertonic myofibrillar myopathy 'fatal infantile hypertonic myofibrillar myopathy' SubClassOf 'hypercontractile muscle stiffness syndrome' http://purl.obolibrary.org/obo/MONDO_0013487 recurrent Neisseria infections due to factor D deficiency 'recurrent Neisseria infections due to factor D deficiency' SubClassOf 'complement deficiency' http://purl.obolibrary.org/obo/MONDO_0013485 spinocerebellar ataxia type 35 'spinocerebellar ataxia type 35' SubClassOf 'autosomal dominant cerebellar ataxia type I' http://purl.obolibrary.org/obo/MONDO_0013486 spinocerebellar ataxia type 32 'spinocerebellar ataxia type 32' SubClassOf 'autosomal dominant cerebellar ataxia type I' http://purl.obolibrary.org/obo/MONDO_0013481 chromosome 13q14 deletion syndrome 'chromosome 13q14 deletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 13' 'chromosome 13q14 deletion syndrome' SubClassOf 'syndromic epicanthus' http://purl.obolibrary.org/obo/MONDO_0013512 hemoglobin H disease 'hemoglobin H disease' SubClassOf 'alpha thalassemia' 'hemoglobin H disease' SubClassOf 'disease has feature' some 'pituitary hormone deficiency secondary to storage disease' http://purl.obolibrary.org/obo/MONDO_0013526 progressive myoclonic epilepsy type 6 'progressive myoclonic epilepsy type 6' SubClassOf 'progressive myoclonus epilepsy' http://purl.obolibrary.org/obo/MONDO_0013524 bleeding diathesis due to thromboxane synthesis deficiency 'bleeding diathesis due to thromboxane synthesis deficiency' SubClassOf 'inherited disease susceptibility' 'bleeding diathesis due to thromboxane synthesis deficiency' SubClassOf 'isolated constitutional thrombocytopenia' 'bleeding diathesis due to thromboxane synthesis deficiency' SubClassOf 'inherited bleeding disorder, platelet-type' http://purl.obolibrary.org/obo/MONDO_0013523 Nestor-Guillermo progeria syndrome 'Nestor-Guillermo progeria syndrome' SubClassOf 'primary osteolysis' 'Nestor-Guillermo progeria syndrome' SubClassOf 'autosomal recessive disease' 'Nestor-Guillermo progeria syndrome' SubClassOf 'progeria' http://purl.obolibrary.org/obo/MONDO_0013539 hypotonia-failure to thrive-microcephaly syndrome 'hypotonia-failure to thrive-microcephaly syndrome' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0013531 PSPH deficiency 'PSPH deficiency' SubClassOf 'neurometabolic disorder due to serine deficiency' 'PSPH deficiency' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency 'hyperlipidemia due to hepatic triglyceride lipase deficiency' SubClassOf 'hyperalphalipoproteinemia' 'hyperlipidemia due to hepatic triglyceride lipase deficiency' SubClassOf 'familial hyperlipidemia' http://purl.obolibrary.org/obo/MONDO_0025511 inherited neuroendocrine tumor 'inherited neuroendocrine tumor' SubClassOf 'has modifier' some 'rare' 'inherited neuroendocrine tumor' SubClassOf 'genetic disorder' 'inherited neuroendocrine tumor' EquivalentTo 'neuroendocrine neoplasm' and ('has modifier' some 'inherited') 'inherited neuroendocrine tumor' SubClassOf 'neuroendocrine neoplasm' http://purl.obolibrary.org/obo/MONDO_0001567 nephrocalcinosis 'nephrocalcinosis' SubClassOf 'calcinosis' 'nephrocalcinosis' SubClassOf 'kidney disease' http://purl.obolibrary.org/obo/MONDO_0013540 deafness-lymphedema-leukemia syndrome 'deafness-lymphedema-leukemia syndrome' SubClassOf 'nervous system neoplasm' 'deafness-lymphedema-leukemia syndrome' SubClassOf 'neurovascular disorder' 'deafness-lymphedema-leukemia syndrome' SubClassOf 'tumor of hematopoietic and lymphoid tissues' 'deafness-lymphedema-leukemia syndrome' SubClassOf 'syndromic lymphedema' 'deafness-lymphedema-leukemia syndrome' SubClassOf 'GATA2 deficiency with susceptibility to MDS/AML' 'deafness-lymphedema-leukemia syndrome' SubClassOf 'syndromic genetic hearing loss' 'deafness-lymphedema-leukemia syndrome' SubClassOf 'lymphatic malformation' 'deafness-lymphedema-leukemia syndrome' SubClassOf 'vascular neoplasm' http://purl.obolibrary.org/obo/MONDO_0013541 complex cortical dysplasia with other brain malformations 1 'complex cortical dysplasia with other brain malformations 1' SubClassOf 'complex cortical dysplasia with other brain malformations' http://purl.obolibrary.org/obo/MONDO_0013546 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 'mitochondrial complex V (ATP synthase) deficiency nuclear type 2' SubClassOf 'mitochondrial complex deficiency' http://purl.obolibrary.org/obo/MONDO_0013559 Hermansky-Pudlak syndrome 7 'Hermansky-Pudlak syndrome 7' SubClassOf 'Hermansky-Pudlak syndrome' http://purl.obolibrary.org/obo/MONDO_0013550 distal myopathy with posterior leg and anterior hand involvement 'distal myopathy with posterior leg and anterior hand involvement' SubClassOf 'autosomal dominant distal myopathy' http://purl.obolibrary.org/obo/MONDO_0001586 mucopolysaccharidosis type 1 'mucopolysaccharidosis type 1' SubClassOf 'neurometabolic disease' 'mucopolysaccharidosis type 1' SubClassOf 'mucopolysaccharidosis' 'mucopolysaccharidosis type 1' SubClassOf 'bone disease' http://purl.obolibrary.org/obo/MONDO_0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 'multiple congenital anomalies-hypotonia-seizures syndrome 1' SubClassOf 'developmental anomaly of metabolic origin' 'multiple congenital anomalies-hypotonia-seizures syndrome 1' SubClassOf 'multiple congenital anomalies-hypotonia-seizures syndrome' 'multiple congenital anomalies-hypotonia-seizures syndrome 1' SubClassOf 'congenital nervous system disorder' 'multiple congenital anomalies-hypotonia-seizures syndrome 1' SubClassOf 'neurometabolic disease' 'multiple congenital anomalies-hypotonia-seizures syndrome 1' SubClassOf 'inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' http://purl.obolibrary.org/obo/MONDO_0013560 Hermansky-Pudlak syndrome 8 'Hermansky-Pudlak syndrome 8' SubClassOf 'Hermansky-Pudlak syndrome' http://purl.obolibrary.org/obo/MONDO_0013561 chondrodysplasia with joint dislocations, gPAPP type 'chondrodysplasia with joint dislocations, gPAPP type' SubClassOf 'musculoskeletal system disease' 'chondrodysplasia with joint dislocations, gPAPP type' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency 'recurrent infections associated with rare immunoglobulin isotypes deficiency' SubClassOf 'immunodeficiency predominantly affecting antibody production' http://purl.obolibrary.org/obo/MONDO_0013574 cutis laxa - Marfanoid syndrome 'cutis laxa - Marfanoid syndrome' SubClassOf 'developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0013579 methylmalonate semialdehyde dehydrogenase deficiency 'methylmalonate semialdehyde dehydrogenase deficiency' SubClassOf 'inborn disorder of branched-chain amino acid metabolism' http://purl.obolibrary.org/obo/MONDO_0013577 Lipedema 'Lipedema' SubClassOf 'subcutaneous tissue disorder' 'Lipedema' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0013570 combined oxidative phosphorylation defect type 8 'combined oxidative phosphorylation defect type 8' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0013587 glycogen storage disease due to lactate dehydrogenase H-subunit deficiency 'glycogen storage disease due to lactate dehydrogenase H-subunit deficiency' SubClassOf 'glycogen storage disease due to lactate dehydrogenase deficiency' http://purl.obolibrary.org/obo/MONDO_0013583 occipital pachygyria and polymicrogyria 'occipital pachygyria and polymicrogyria' SubClassOf 'genetic nervous system disorder' 'occipital pachygyria and polymicrogyria' SubClassOf 'cerebral malformation' http://purl.obolibrary.org/obo/MONDO_0013580 pyruvate dehydrogenase E1-beta deficiency 'pyruvate dehydrogenase E1-beta deficiency' SubClassOf 'pyruvate dehydrogenase deficiency' http://purl.obolibrary.org/obo/MONDO_0013355 congenital dyserythropoietic anemia type 4 'congenital dyserythropoietic anemia type 4' SubClassOf 'congenital dyserythropoietic anemia' 'congenital dyserythropoietic anemia type 4' SubClassOf 'congenital anemia' http://purl.obolibrary.org/obo/MONDO_0013354 spastic ataxia 4 'spastic ataxia 4' SubClassOf 'mitochondrial oxidative phosphorylation disorder' 'spastic ataxia 4' SubClassOf 'autosomal recessive spastic ataxia' http://purl.obolibrary.org/obo/MONDO_0013359 familial hyperaldosteronism type III 'familial hyperaldosteronism type III' SubClassOf 'familial hyperaldosteronism' http://purl.obolibrary.org/obo/MONDO_0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb 'chromosome 17q11.2 deletion syndrome, 1.4Mb' SubClassOf 'neurofibromatosis type 1' 'chromosome 17q11.2 deletion syndrome, 1.4Mb' SubClassOf 'partial deletion of the long arm of chromosome 17' http://purl.obolibrary.org/obo/MONDO_0013351 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly 'infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly' SubClassOf 'central nervous system disease' 'infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly' SubClassOf 'genetic nervous system disorder' 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 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0013364 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 'Rubinstein-Taybi syndrome due to EP300 haploinsufficiency' SubClassOf 'Rubinstein-Taybi syndrome' http://purl.obolibrary.org/obo/MONDO_0013368 mammary-digital-nail syndrome 'mammary-digital-nail syndrome' SubClassOf 'congenital limb malformation' 'mammary-digital-nail syndrome' SubClassOf 'excess breast volume or number' 'mammary-digital-nail syndrome' SubClassOf 'dysostosis of genetic origin' 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 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome' SubClassOf 'congenital nervous system disorder' 'THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome' SubClassOf 'genetic nervous system disorder' 'THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0013360 brachyolmia, Maroteaux type 'brachyolmia, Maroteaux type' SubClassOf 'brachyolmia' http://purl.obolibrary.org/obo/MONDO_0013361 congenital prothrombin deficiency 'congenital prothrombin deficiency' SubClassOf 'autosomal recessive disease' 'congenital prothrombin deficiency' SubClassOf 'prothrombin deficiency' 'congenital prothrombin deficiency' EquivalentTo 'prothrombin deficiency' and ('has modifier' some 'inherited') 'congenital prothrombin deficiency' SubClassOf 'congenital vitamin K-dependent coagulation factors deficiency' http://purl.obolibrary.org/obo/MONDO_0013382 progressive demyelinating neuropathy with bilateral striatal necrosis 'progressive demyelinating neuropathy with bilateral striatal necrosis' SubClassOf 'thiamine-responsive dysfunction syndrome' 'progressive demyelinating neuropathy with bilateral striatal necrosis' SubClassOf 'genetic peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0013391 sterol carrier protein 2 deficiency 'sterol carrier protein 2 deficiency' SubClassOf 'disorder of peroxisomal beta oxidation' 'sterol carrier protein 2 deficiency' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0013392 autosomal recessive spinocerebellar ataxia 10 'autosomal recessive spinocerebellar ataxia 10' SubClassOf 'autosomal recessive cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0013390 autosomal recessive limb-girdle muscular dystrophy type 2Q 'autosomal recessive limb-girdle muscular dystrophy type 2Q' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' 'autosomal recessive limb-girdle muscular dystrophy type 2Q' SubClassOf 'qualitative or quantitative defects of plectin' http://purl.obolibrary.org/obo/MONDO_0013396 chromosome 1p32-p31 deletion syndrome 'chromosome 1p32-p31 deletion syndrome' SubClassOf 'partial deletion of the short arm of chromosome 1' 'chromosome 1p32-p31 deletion syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0013393 distal 7q11.23 microdeletion syndrome 'distal 7q11.23 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 7' http://purl.obolibrary.org/obo/MONDO_0013394 porencephaly-microcephaly-bilateral congenital cataract syndrome 'porencephaly-microcephaly-bilateral congenital cataract syndrome' SubClassOf 'genetic nervous system disorder' 'porencephaly-microcephaly-bilateral congenital cataract syndrome' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0013408 FADD-related immunodeficiency 'FADD-related immunodeficiency' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0013400 Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency 'Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency' SubClassOf 'genetic disorder' 'Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency' SubClassOf 'has modifier' some 'rare' 'Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency' SubClassOf '46,XY disorder of sex development of endocrine origin' 'Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency' SubClassOf 'adrenal gland disease' http://purl.obolibrary.org/obo/MONDO_0013404 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase 'hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase' SubClassOf 'cerebral organic aciduria' 'hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase' SubClassOf 'disorder of methionine catabolism' 'hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0013417 complement component 3 deficiency 'complement component 3 deficiency' SubClassOf 'classic complement early component deficiency' http://purl.obolibrary.org/obo/MONDO_0013427 immunodeficiency 31B 'immunodeficiency 31B' SubClassOf 'hereditary predisposition to infections' http://purl.obolibrary.org/obo/MONDO_0013426 aneurysm-osteoarthritis syndrome 'aneurysm-osteoarthritis syndrome' SubClassOf 'Loeys-Dietz syndrome' http://purl.obolibrary.org/obo/MONDO_0013423 immunodeficiency due to MASP-2 deficiency 'immunodeficiency due to MASP-2 deficiency' SubClassOf 'disorder of lectin complement activation pathway' http://purl.obolibrary.org/obo/MONDO_0013424 3p- syndrome '3p- syndrome' SubClassOf 'partial deletion of the short arm of chromosome 3' '3p- syndrome' SubClassOf 'genetic nervous system disorder' '3p- syndrome' SubClassOf 'blepharophimosis - intellectual disability syndrome' '3p- syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0013439 congenital bile acid synthesis defect 3 'congenital bile acid synthesis defect 3' SubClassOf 'has modifier' some 'congenital' 'congenital bile acid synthesis defect 3' SubClassOf 'Congenital bile acid synthesis defect' http://purl.obolibrary.org/obo/MONDO_0013440 autosomal recessive limb-girdle muscular dystrophy type 2P 'autosomal recessive limb-girdle muscular dystrophy type 2P' SubClassOf 'neurometabolic disease' 'autosomal recessive limb-girdle muscular dystrophy type 2P' SubClassOf 'muscular dystrophy-dystroglycanopathy, type C' 'autosomal recessive limb-girdle muscular dystrophy type 2P' SubClassOf 'congenital disorder of glycosylation' 'autosomal recessive limb-girdle muscular dystrophy type 2P' SubClassOf 'primary qualitative or quantitative defects of alpha-dystroglycan' 'autosomal recessive limb-girdle muscular dystrophy type 2P' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0013452 multisystemic smooth muscle dysfunction syndrome 'multisystemic smooth muscle dysfunction syndrome' SubClassOf 'intestinal motility disease' 'multisystemic smooth muscle dysfunction syndrome' SubClassOf 'genetic central nervous system and retinal vascular disease' 'multisystemic smooth muscle dysfunction syndrome' SubClassOf 'disease of genitourinary system' http://purl.obolibrary.org/obo/MONDO_0013458 hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome 'hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome' SubClassOf 'inherited renal tubular disease' 'hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome' SubClassOf 'pulmonary hypertension' 'hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome' SubClassOf 'mitochondrial oxidative phosphorylation disorder' 'hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome' SubClassOf 'genetic hypertension' http://purl.obolibrary.org/obo/MONDO_0013456 constitutional megaloblastic anemia with severe neurologic disease 'constitutional megaloblastic anemia with severe neurologic disease' SubClassOf 'disorder of folate metabolism and transport' 'constitutional megaloblastic anemia with severe neurologic disease' SubClassOf 'megaloblastic anemia' 'constitutional megaloblastic anemia with severe neurologic disease' SubClassOf 'inherited deficiency anemia' http://purl.obolibrary.org/obo/MONDO_0013464 episodic ataxia type 5 'episodic ataxia type 5' SubClassOf 'hereditary episodic ataxia' http://purl.obolibrary.org/obo/MONDO_0013467 immunodeficiency due to ficolin3 deficiency 'immunodeficiency due to ficolin3 deficiency' SubClassOf 'disorder of lectin complement activation pathway' http://purl.obolibrary.org/obo/MONDO_0013232 brachydactylous dwarfism, Mseleni type 'brachydactylous dwarfism, Mseleni type' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0013233 spondyloepimetaphyseal dysplasia, Handigodu type 'spondyloepimetaphyseal dysplasia, Handigodu type' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0013238 chromosome 17q23.1-q23.2 deletion syndrome 'chromosome 17q23.1-q23.2 deletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 17' http://purl.obolibrary.org/obo/MONDO_0013239 hereditary spastic paraplegia 41 'hereditary spastic paraplegia 41' SubClassOf 'autosomal dominant pure spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0015898 adrenogenital syndrome 'adrenogenital syndrome' SubClassOf 'steroid metabolism disease' 'adrenogenital syndrome' SubClassOf 'adrenal gland disease' http://purl.obolibrary.org/obo/MONDO_0015892 growth hormone insensitivity syndrome 'growth hormone insensitivity syndrome' SubClassOf 'syndromic disease' 'growth hormone insensitivity syndrome' SubClassOf 'genetic endocrine growth disease' http://purl.obolibrary.org/obo/MONDO_0013245 syndromic multisystem autoimmune disease due to ITCH deficiency 'syndromic multisystem autoimmune disease due to ITCH deficiency' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'syndromic multisystem autoimmune disease due to ITCH deficiency' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'syndromic multisystem autoimmune disease due to ITCH deficiency' SubClassOf 'syndromic intellectual disability' 'syndromic multisystem autoimmune disease due to ITCH deficiency' SubClassOf 'genetic nervous system disorder' 'syndromic multisystem autoimmune disease due to ITCH deficiency' SubClassOf 'intractable diarrhea of infancy' 'syndromic multisystem autoimmune disease due to ITCH deficiency' SubClassOf 'respiratory system disease' 'syndromic multisystem autoimmune disease due to ITCH deficiency' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0013241 spinocerebellar ataxia type 30 'spinocerebellar ataxia type 30' SubClassOf 'autosomal dominant cerebellar ataxia type III' http://purl.obolibrary.org/obo/MONDO_0013256 chromosome 15q24 deletion syndrome 'chromosome 15q24 deletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 15' 'chromosome 15q24 deletion syndrome' SubClassOf 'SIN3A-related intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0013254 microcephaly, seizures, and developmental delay 'microcephaly, seizures, and developmental delay' SubClassOf 'developmental and epileptic encephalopathy' 'microcephaly, seizures, and developmental delay' SubClassOf 'microcephaly' http://purl.obolibrary.org/obo/MONDO_0013252 Warsaw breakage syndrome 'Warsaw breakage syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0013267 distal 16p11.2 microdeletion syndrome 'distal 16p11.2 microdeletion syndrome' SubClassOf 'syndromic genetic obesity' 'distal 16p11.2 microdeletion syndrome' SubClassOf 'partial deletion of the short arm of chromosome 16' http://purl.obolibrary.org/obo/MONDO_0013268 frontonasal dysplasia with alopecia and genital anomaly 'frontonasal dysplasia with alopecia and genital anomaly' SubClassOf 'frontonasal dysplasia' 'frontonasal dysplasia with alopecia and genital anomaly' SubClassOf 'genetic alopecia' http://purl.obolibrary.org/obo/MONDO_0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome 'frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome' SubClassOf 'orofacial clefting syndrome' 'frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome' SubClassOf 'frontonasal dysplasia' 'frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome' SubClassOf 'branchial arch or oral-acral syndrome' 'frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://purl.obolibrary.org/obo/MONDO_0013275 hemolytic anemia due to glucophosphate isomerase deficiency 'hemolytic anemia due to glucophosphate isomerase deficiency' SubClassOf 'disorder of glycolysis' 'hemolytic anemia due to glucophosphate isomerase deficiency' SubClassOf 'congenital nonspherocytic hemolytic anemia' 'hemolytic anemia due to glucophosphate isomerase deficiency' SubClassOf 'anemia due to erythrocyte enzyme disorder' http://purl.obolibrary.org/obo/MONDO_0013272 chromosome 14q11-q22 deletion syndrome 'chromosome 14q11-q22 deletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 14' http://purl.obolibrary.org/obo/MONDO_0013273 chromosome 16p13.3 duplication syndrome 'chromosome 16p13.3 duplication syndrome' SubClassOf 'partial duplication of the short arm of chromosome 16' http://purl.obolibrary.org/obo/MONDO_0013281 COG4-CDG 'COG4-CDG' SubClassOf 'congenital disorder of glycosylation type II' 'COG4-CDG' SubClassOf 'congenital nervous system disorder' 'COG4-CDG' SubClassOf 'defect in conserved oligomeric Golgi complex' 'COG4-CDG' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0013282 alpha 1-antitrypsin deficiency 'alpha 1-antitrypsin deficiency' SubClassOf 'respiratory system disease' 'alpha 1-antitrypsin deficiency' SubClassOf 'plasma protein metabolism disease' 'alpha 1-antitrypsin deficiency' SubClassOf 'nephropathy secondary to a storage or other metabolic disease' 'alpha 1-antitrypsin deficiency' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0013298 chromosome 17q21.31 duplication syndrome 'chromosome 17q21.31 duplication syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'chromosome 17q21.31 duplication syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'chromosome 17q21.31 duplication syndrome' SubClassOf 'genetic nervous system disorder' 'chromosome 17q21.31 duplication syndrome' SubClassOf 'syndromic intellectual disability' 'chromosome 17q21.31 duplication syndrome' SubClassOf 'congenital nervous system disorder' 'chromosome 17q21.31 duplication syndrome' SubClassOf 'partial duplication of the long arm of chromosome 17' http://purl.obolibrary.org/obo/MONDO_0013292 chromosome 4q21 deletion syndrome 'chromosome 4q21 deletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 4' http://purl.obolibrary.org/obo/MONDO_0013291 glycogen storage disease XV 'glycogen storage disease XV' SubClassOf 'muscular glycogenosis' 'glycogen storage disease XV' SubClassOf 'glycogen storage disease' http://purl.obolibrary.org/obo/MONDO_0013297 autosomal dominant limb-girdle muscular dystrophy type 1H 'autosomal dominant limb-girdle muscular dystrophy type 1H' SubClassOf 'muscular dystrophy, limb-girdle, autosomal dominant' http://purl.obolibrary.org/obo/MONDO_0015905 syndromic dyslipidemia 'syndromic dyslipidemia' EquivalentTo 'inherited lipid metabolism disorder' and ('has modifier' some 'has a syndromic presentation') 'syndromic dyslipidemia' SubClassOf 'syndromic disease' 'syndromic dyslipidemia' SubClassOf 'has modifier' some 'rare' 'syndromic dyslipidemia' SubClassOf 'inherited lipid metabolism disorder' http://purl.obolibrary.org/obo/MONDO_0015903 hyperalphalipoproteinemia 'hyperalphalipoproteinemia' SubClassOf 'hyperlipoproteinemia' 'hyperalphalipoproteinemia' SubClassOf 'has modifier' some 'rare' 'hyperalphalipoproteinemia' SubClassOf 'hyperlipidemia' http://purl.obolibrary.org/obo/MONDO_0015902 major hypertriglyceridemia 'major hypertriglyceridemia' SubClassOf 'has modifier' some 'rare' 'major hypertriglyceridemia' SubClassOf 'hyperlipidemia' http://purl.obolibrary.org/obo/MONDO_0015909 aplastic anemia 'aplastic anemia' SubClassOf 'telomere syndrome' 'aplastic anemia' SubClassOf 'anemia' http://purl.obolibrary.org/obo/MONDO_0015915 cerebellar malformation 'cerebellar malformation' SubClassOf 'posterior fossa malformation' http://purl.obolibrary.org/obo/MONDO_0015926 pneumoconiosis 'pneumoconiosis' SubClassOf 'primary interstitial lung disease specific to adulthood' http://purl.obolibrary.org/obo/MONDO_0015921 ARX-related epileptic encephalopathy 'ARX-related epileptic encephalopathy' SubClassOf 'genetic nervous system disorder' 'ARX-related epileptic encephalopathy' SubClassOf 'monogenic epilepsy' http://purl.obolibrary.org/obo/MONDO_0015930 respiratory malformation 'respiratory malformation' SubClassOf 'respiratory or thoracic malformation' http://purl.obolibrary.org/obo/MONDO_0015947 inherited ichthyosis 'inherited ichthyosis' SubClassOf 'genetic skin disease' 'inherited ichthyosis' EquivalentTo 'ichthyosis' and ('has modifier' some 'inherited') 'inherited ichthyosis' SubClassOf 'ichthyosis' 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 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0015944 axial mesodermal dysplasia spectrum 'axial mesodermal dysplasia spectrum' SubClassOf 'syndromic renal or urinary tract malformation' 'axial mesodermal dysplasia spectrum' SubClassOf 'syndromic anorectal malformation' 'axial mesodermal dysplasia spectrum' SubClassOf 'syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0015942 frontometaphyseal dysplasia 'frontometaphyseal dysplasia' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'frontometaphyseal dysplasia' SubClassOf 'otopalatodigital syndrome spectrum disorder' 'frontometaphyseal dysplasia' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0001309 oculomotor nerve paralysis 'oculomotor nerve paralysis' SubClassOf 'neuro-ophthalmological disease' 'oculomotor nerve paralysis' SubClassOf 'cranial nerve palsy' 'oculomotor nerve paralysis' SubClassOf 'third cranial nerve disorder' http://purl.obolibrary.org/obo/MONDO_0015951 hereditary photodermatosis 'hereditary photodermatosis' SubClassOf 'has modifier' some 'rare' 'hereditary photodermatosis' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0015950 inherited skin tumor 'inherited skin tumor' SubClassOf 'has modifier' some 'rare' 'inherited skin tumor' SubClassOf 'skin neoplasm' 'inherited skin tumor' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0015953 genetic central nervous system and retinal vascular disease 'genetic central nervous system and retinal vascular disease' SubClassOf 'neurovascular disorder' 'genetic central nervous system and retinal vascular disease' EquivalentTo 'disorder of central nervous system or retinal vasculature' and ('has modifier' some 'inherited') 'genetic central nervous system and retinal vascular disease' SubClassOf 'disorder of central nervous system or retinal vasculature' 'genetic central nervous system and retinal vascular disease' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0013308 CBL-related disorder 'CBL-related disorder' SubClassOf 'rasopathy' http://purl.obolibrary.org/obo/MONDO_0013306 combined oxidative phosphorylation defect type 7 'combined oxidative phosphorylation defect type 7' SubClassOf 'c12orf65-related combined oxidative phosphorylation defect' 'combined oxidative phosphorylation defect type 7' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0013300 commissural facial cleft 'commissural facial cleft' SubClassOf 'lateral facial cleft' http://purl.obolibrary.org/obo/MONDO_0015962 inherited renal tubular disease 'inherited renal tubular disease' SubClassOf 'has modifier' some 'rare' 'inherited renal tubular disease' SubClassOf 'genetic disorder' 'inherited renal tubular disease' SubClassOf 'renal tubule disease' http://purl.obolibrary.org/obo/MONDO_0013301 aromatase deficiency 'aromatase deficiency' SubClassOf 'genetic infertility' 'aromatase deficiency' SubClassOf 'male infertility' 'aromatase deficiency' SubClassOf 'pregnancy disorder' 'aromatase deficiency' SubClassOf '46,XX disorder of sex development induced by fetoplacental androgens excess' 'aromatase deficiency' SubClassOf 'female infertility' 'aromatase deficiency' SubClassOf 'inherited primary ovarian failure' http://purl.obolibrary.org/obo/MONDO_0015961 genetic head and neck malformation 'genetic head and neck malformation' SubClassOf 'disorder of development or morphogenesis' 'genetic head and neck malformation' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0013304 von Willebrand disease 2 'von Willebrand disease 2' SubClassOf 'hereditary von Willebrand disease' 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' http://purl.obolibrary.org/obo/MONDO_0015979 hereditary predisposition to infections 'hereditary predisposition to infections' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'infectious disease') 'hereditary predisposition to infections' SubClassOf 'inherited disease susceptibility' 'hereditary predisposition to infections' SubClassOf 'predisposes towards' some 'infectious disease' http://purl.obolibrary.org/obo/MONDO_0015974 severe combined immunodeficiency 'severe combined immunodeficiency' SubClassOf 'combined immunodeficiency' 'severe combined immunodeficiency' DisjointWith 'non-SCID combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0013311 ectodermal dysplasia-syndactyly syndrome 'ectodermal dysplasia-syndactyly syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency 'congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf 'developmental anomaly of metabolic origin' 'congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf '46,XY disorder of sex development of endocrine origin' 'congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf '46,XX disorder of sex development induced by fetal androgens excess' 'congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf 'congenital adrenal hyperplasia' 'congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf 'has modifier' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0015978 functional neutrophil defect 'functional neutrophil defect' SubClassOf 'quantitative and/or qualitative congenital phagocyte defect' http://purl.obolibrary.org/obo/MONDO_0015977 agammaglobulinemia 'agammaglobulinemia' SubClassOf 'immunodeficiency predominantly affecting antibody production' 'agammaglobulinemia' SubClassOf 'B cell deficiency' http://purl.obolibrary.org/obo/MONDO_0013316 occult macular dystrophy 'occult macular dystrophy' SubClassOf 'macular degeneration' 'occult macular dystrophy' SubClassOf 'genetic macular dystrophy' http://purl.obolibrary.org/obo/MONDO_0015976 hyper-IgM syndrome without susceptibility to opportunistic infections 'hyper-IgM syndrome with susceptibility to opportunistic infections' DisjointWith 'hyper-IgM syndrome without susceptibility to opportunistic infections' 'hyper-IgM syndrome without susceptibility to opportunistic infections' SubClassOf 'hyper-IgM syndrome' http://purl.obolibrary.org/obo/MONDO_0013313 ectodermal dysplasia-cutaneous syndactyly syndrome 'ectodermal dysplasia-cutaneous syndactyly syndrome' SubClassOf 'ectodermal dysplasia-syndactyly syndrome' http://purl.obolibrary.org/obo/MONDO_0015975 hyper-IgM syndrome with susceptibility to opportunistic infections 'hyper-IgM syndrome with susceptibility to opportunistic infections' SubClassOf 'hyper-IgM syndrome' 'hyper-IgM syndrome with susceptibility to opportunistic infections' DisjointWith 'hyper-IgM syndrome without susceptibility to opportunistic infections' 'hyper-IgM syndrome with susceptibility to opportunistic infections' SubClassOf 'non-SCID combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0001347 facioscapulohumeral muscular dystrophy 'facioscapulohumeral muscular dystrophy' SubClassOf 'genetic nervous system disorder' 'facioscapulohumeral muscular dystrophy' SubClassOf 'telomere syndrome' 'facioscapulohumeral muscular dystrophy' SubClassOf 'progressive muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0013329 familial clubfoot due to 17q23.1q23.2 microduplication 'familial clubfoot due to 17q23.1q23.2 microduplication' SubClassOf 'familial clubfoot with or without associated lower limb anomalies' 'familial clubfoot due to 17q23.1q23.2 microduplication' SubClassOf 'partial duplication of the long arm of chromosome 17' http://purl.obolibrary.org/obo/MONDO_0015985 bone dysplasia, Azouz type 'bone dysplasia, Azouz type' SubClassOf 'primary bone dysplasia' http://purl.obolibrary.org/obo/MONDO_0013320 chromosome 16p12.2-p11.2 deletion syndrome 'chromosome 16p12.2-p11.2 deletion syndrome' SubClassOf 'partial deletion of the short arm of chromosome 16' http://purl.obolibrary.org/obo/MONDO_0015989 obsolete congenital valvular dysplasia 'obsolete congenital valvular dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0013327 primary hyperoxaluria type 3 'primary hyperoxaluria type 3' SubClassOf 'primary hyperoxaluria' http://purl.obolibrary.org/obo/MONDO_0015988 multicystic dysplastic kidney 'multicystic dysplastic kidney' SubClassOf 'non-syndromic renal or urinary tract malformation' 'multicystic dysplastic kidney' SubClassOf 'Cystic Kidney Disease' http://purl.obolibrary.org/obo/MONDO_0015986 bilateral renal agenesis 'bilateral renal agenesis' SubClassOf 'renal agenesis' 'Potter sequence' DisjointWith 'bilateral renal agenesis' http://purl.obolibrary.org/obo/MONDO_0013325 COG5-CDG 'COG5-CDG' SubClassOf 'congenital disorder of glycosylation type II' 'COG5-CDG' SubClassOf 'syndromic disease' 'COG5-CDG' SubClassOf 'neurometabolic disease' 'COG5-CDG' SubClassOf 'congenital nervous system disorder' 'COG5-CDG' SubClassOf 'defect in conserved oligomeric Golgi complex' http://purl.obolibrary.org/obo/MONDO_0015995 melorheostosis with osteopoikilosis 'melorheostosis with osteopoikilosis' SubClassOf 'Buschke-Ollendorff syndrome' http://purl.obolibrary.org/obo/MONDO_0015994 muscular dystrophy-white matter spongiosis syndrome 'muscular dystrophy-white matter spongiosis syndrome' SubClassOf 'skeletal muscle disorder' http://purl.obolibrary.org/obo/MONDO_0015993 cone-rod dystrophy 'cone-rod dystrophy' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0013338 Charcot-Marie-Tooth disease recessive intermediate B 'Charcot-Marie-Tooth disease recessive intermediate B' SubClassOf 'autosomal recessive intermediate Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0015999 primary pigmented nodular adrenocortical disease 'primary pigmented nodular adrenocortical disease' SubClassOf 'has modifier' some 'rare' 'primary pigmented nodular adrenocortical disease' SubClassOf 'adrenal gland disease' 'primary pigmented nodular adrenocortical disease' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0015998 isolated ectopia lentis 'isolated ectopia lentis' SubClassOf 'has modifier' some 'has an isolated presentation' 'isolated ectopia lentis' SubClassOf 'lens position anomaly' 'isolated ectopia lentis' EquivalentTo 'lens position anomaly' and ('has modifier' some 'has an isolated presentation') http://purl.obolibrary.org/obo/MONDO_0013336 chromosome 19p13.13 deletion syndrome 'chromosome 19p13.13 deletion syndrome' SubClassOf 'partial deletion of the short arm of chromosome 19' 'chromosome 19p13.13 deletion syndrome' SubClassOf 'congenital nervous system disorder' 'chromosome 19p13.13 deletion syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'chromosome 19p13.13 deletion syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'chromosome 19p13.13 deletion syndrome' SubClassOf 'genetic nervous system disorder' 'chromosome 19p13.13 deletion syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0015997 ectopia lentis-chorioretinal dystrophy-myopia syndrome 'ectopia lentis-chorioretinal dystrophy-myopia syndrome' SubClassOf 'lens position anomaly' 'ectopia lentis-chorioretinal dystrophy-myopia syndrome' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0015991 citrullinemia 'citrullinemia' SubClassOf 'urea cycle disorder' http://purl.obolibrary.org/obo/MONDO_0015990 focal, segmental or multifocal dystonia 'focal, segmental or multifocal dystonia' SubClassOf 'isolated dystonia' http://purl.obolibrary.org/obo/MONDO_0013342 hereditary spastic paraplegia 48 'hereditary spastic paraplegia 48' SubClassOf 'pure or complex autosomal recessive spastic paraplegia' 'hereditary spastic paraplegia 48' SubClassOf 'lysosomal storage disease' 'hereditary spastic paraplegia 48' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0013349 ALG11-CDG 'ALG11-CDG' SubClassOf 'disorder of protein N-glycosylation' 'ALG11-CDG' SubClassOf 'congenital nervous system disorder' 'ALG11-CDG' SubClassOf 'congenital disorder of glycosylation type I' 'ALG11-CDG' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0013341 methylmalonic acidemia due to transcobalamin receptor defect 'methylmalonic acidemia due to transcobalamin receptor defect' SubClassOf 'inborn disorder of cobalamin metabolism and transport' 'methylmalonic acidemia due to transcobalamin receptor defect' SubClassOf 'methylmalonic acidemia' http://purl.obolibrary.org/obo/MONDO_0015776 rhizomelic chondrodysplasia punctata 'rhizomelic chondrodysplasia punctata' SubClassOf 'eye disease' 'rhizomelic chondrodysplasia punctata' SubClassOf 'disorder of plasmalogens biosynthesis' 'rhizomelic chondrodysplasia punctata' SubClassOf 'chondrodysplasia punctata' 'rhizomelic chondrodysplasia punctata' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0015775 non-rhizomelic chondrodysplasia punctata 'non-rhizomelic chondrodysplasia punctata' SubClassOf 'chondrodysplasia punctata' http://purl.obolibrary.org/obo/MONDO_0013111 acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 'acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins' SubClassOf 'infantile liver failure' 'acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins' SubClassOf 'mitochondrial oxidative phosphorylation disorder' http://purl.obolibrary.org/obo/MONDO_0015774 thoraco-abdominal enteric duplication 'thoraco-abdominal enteric duplication' SubClassOf 'syndromic intestinal malformation' http://purl.obolibrary.org/obo/MONDO_0015773 fibular dimelia-diplopodia syndrome 'fibular dimelia-diplopodia syndrome' SubClassOf 'congenital limb malformation' http://purl.obolibrary.org/obo/MONDO_0013118 Nijmegen breakage syndrome-like disorder 'Nijmegen breakage syndrome-like disorder' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0015779 45,X/46,XY mixed gonadal dysgenesis '45,X/46,XY mixed gonadal dysgenesis' SubClassOf 'gonadal dysgenesis' '45,X/46,XY mixed gonadal dysgenesis' SubClassOf 'male infertility' '45,X/46,XY mixed gonadal dysgenesis' SubClassOf 'has modifier' some 'mosaic' '45,X/46,XY mixed gonadal dysgenesis' SubClassOf 'sex chromosome disorder of sex development' http://purl.obolibrary.org/obo/MONDO_0015778 syndromic hypothyroidism 'syndromic hypothyroidism' SubClassOf 'permanent congenital hypothyroidism' 'syndromic hypothyroidism' SubClassOf 'syndromic disease' 'syndromic hypothyroidism' EquivalentTo 'hypothyroidism' and ('has modifier' some 'has a syndromic presentation') http://purl.obolibrary.org/obo/MONDO_0013115 RIN2 syndrome 'RIN2 syndrome' SubClassOf 'inherited cutis laxa' http://purl.obolibrary.org/obo/MONDO_0013116 congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome 'congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome' SubClassOf 'syndromic genetic hearing loss' 'congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome' SubClassOf 'inborn mitochondrial myopathy' 'congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome' SubClassOf 'mitochondrial oxidative phosphorylation disorder' 'congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome' SubClassOf 'syndromic cataract' 'congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0015772 trisomy 8q 'trisomy 8q' SubClassOf 'partial duplication of the long arm of chromosome 8' http://purl.obolibrary.org/obo/MONDO_0013110 neurodegenerative syndrome due to cerebral folate transport deficiency 'neurodegenerative syndrome due to cerebral folate transport deficiency' SubClassOf 'inherited neurodegenerative disorder' 'neurodegenerative syndrome due to cerebral folate transport deficiency' SubClassOf 'disorder of folate metabolism and transport' 'neurodegenerative syndrome due to cerebral folate transport deficiency' SubClassOf 'vitamin metabolic disorder' http://purl.obolibrary.org/obo/MONDO_0015771 mosaic trisomy 7 'mosaic trisomy 7' SubClassOf 'has modifier' some 'mosaic' 'mosaic trisomy 7' SubClassOf 'total autosomal trisomy' 'mosaic trisomy 7' SubClassOf 'chromosome 7 disorder' 'mosaic trisomy 7' SubClassOf 'trisomy' http://purl.obolibrary.org/obo/MONDO_0015770 congenital hypogonadotropic hypogonadism 'congenital hypogonadotropic hypogonadism' SubClassOf 'non-acquired pituitary hormone deficiency' 'congenital hypogonadotropic hypogonadism' SubClassOf 'hypogonadotropic hypogonadism' 'congenital hypogonadotropic hypogonadism' SubClassOf 'anomaly of puberty or/and menstrual cycle of genetic origin' 'congenital hypogonadotropic hypogonadism' SubClassOf 'male infertility' 'congenital hypogonadotropic hypogonadism' SubClassOf 'female infertility' 'congenital hypogonadotropic hypogonadism' SubClassOf 'genetic infertility' http://purl.obolibrary.org/obo/MONDO_0015787 symptomatic form of hemophilia A in female carriers 'symptomatic form of hemophilia A in female carriers' SubClassOf 'hemophilia A' http://purl.obolibrary.org/obo/MONDO_0013125 CLAPO syndrome 'CLAPO syndrome' SubClassOf 'overgrowth syndrome' http://purl.obolibrary.org/obo/MONDO_0015786 Prader-Willi syndrome due to imprinting mutation 'Prader-Willi syndrome due to imprinting mutation' SubClassOf 'Prader-Willi syndrome' http://purl.obolibrary.org/obo/MONDO_0015785 Prader-Willi syndrome due to translocation 'Prader-Willi syndrome due to translocation' SubClassOf 'Prader-Willi syndrome' http://purl.obolibrary.org/obo/MONDO_0015784 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2' SubClassOf 'Prader-Willi syndrome due to paternal 15q11q13 deletion' http://purl.obolibrary.org/obo/MONDO_0013128 familial juvenile hyperuricemic nephropathy type 2 'familial juvenile hyperuricemic nephropathy type 2' SubClassOf 'familial juvenile hyperuricemic nephropathy' 'familial juvenile hyperuricemic nephropathy type 2' SubClassOf 'inherited renal tubular disease' http://purl.obolibrary.org/obo/MONDO_0013127 asphyxiating thoracic dystrophy 3 'asphyxiating thoracic dystrophy 3' SubClassOf 'Jeune syndrome' http://purl.obolibrary.org/obo/MONDO_0015788 symptomatic form of hemophilia B in female carriers 'symptomatic form of hemophilia B in female carriers' SubClassOf 'hemophilia B' http://purl.obolibrary.org/obo/MONDO_0015783 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1' SubClassOf 'Prader-Willi syndrome due to paternal 15q11q13 deletion' http://purl.obolibrary.org/obo/MONDO_0015782 dysmorphism-cleft palate-loose skin syndrome 'dysmorphism-cleft palate-loose skin syndrome' SubClassOf 'orofacial clefting syndrome' http://purl.obolibrary.org/obo/MONDO_0015781 facial dysmorphism-shawl scrotum-joint laxity syndrome 'facial dysmorphism-shawl scrotum-joint laxity syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '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_0015780 dyskeratosis congenita 'dyskeratosis congenita' SubClassOf 'ectodermal dysplasia syndrome' 'dyskeratosis congenita' SubClassOf 'hereditary neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0013136 hereditary hypotrichosis with recurrent skin vesicles 'hereditary hypotrichosis with recurrent skin vesicles' SubClassOf 'alopecia' http://purl.obolibrary.org/obo/MONDO_0015797 UV-sensitive syndrome 'UV-sensitive syndrome' SubClassOf 'hereditary photodermatosis' 'UV-sensitive syndrome' SubClassOf 'autosomal recessive disease' 'UV-sensitive syndrome' SubClassOf 'DNA repair deficiency' http://purl.obolibrary.org/obo/MONDO_0015799 Smith-McCort dysplasia 'Smith-McCort dysplasia' SubClassOf 'genetic disorder' 'Smith-McCort dysplasia' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0015794 antenatal multiminicore disease with arthrogryposis multiplex congenita 'antenatal multiminicore disease with arthrogryposis multiplex congenita' SubClassOf 'multiminicore myopathy' http://purl.obolibrary.org/obo/MONDO_0013132 hereditary spastic paraplegia 36 'hereditary spastic paraplegia 36' SubClassOf 'autosomal dominant complex spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0015793 moderate multiminicore disease with hand involvement 'moderate multiminicore disease with hand involvement' SubClassOf 'multiminicore myopathy' http://purl.obolibrary.org/obo/MONDO_0015791 peripheral precocious puberty 'peripheral precocious puberty' DisjointWith 'central precocious puberty' 'peripheral precocious puberty' SubClassOf 'precocious puberty' http://purl.obolibrary.org/obo/MONDO_0013144 hereditary antithrombin deficiency 'hereditary antithrombin deficiency' SubClassOf 'secondary avascular necrosis' 'hereditary antithrombin deficiency' SubClassOf 'inherited thrombophilia' 'hereditary antithrombin deficiency' SubClassOf 'avascular necrosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0013143 hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency 'hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency' SubClassOf 'inherited thrombophilia' 'hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency' SubClassOf 'avascular necrosis of genetic origin' 'hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency' SubClassOf 'secondary avascular necrosis' http://purl.obolibrary.org/obo/MONDO_0013150 parkinsonism-dystonia, infantile 'parkinsonism-dystonia, infantile' SubClassOf 'persistent combined dystonia' 'parkinsonism-dystonia, infantile' SubClassOf 'syndromic disease' 'parkinsonism-dystonia, infantile' SubClassOf 'parkinsonian disorder' http://purl.obolibrary.org/obo/MONDO_0013169 chromosome 5p13 duplication syndrome 'chromosome 5p13 duplication syndrome' SubClassOf 'genetic nervous system disorder' 'chromosome 5p13 duplication syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'chromosome 5p13 duplication syndrome' SubClassOf 'partial trisomy/tetrasomy of the short arm of chromosome 5' 'chromosome 5p13 duplication syndrome' SubClassOf 'congenital nervous system disorder' 'chromosome 5p13 duplication syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'chromosome 5p13 duplication syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0013166 GABA aminotransferase deficiency 'GABA aminotransferase deficiency' SubClassOf 'cerebral organic aciduria' 'GABA aminotransferase deficiency' SubClassOf 'neurometabolic disease' 'GABA aminotransferase deficiency' SubClassOf 'disorder of beta and omega amino acid metabolism' 'GABA aminotransferase deficiency' SubClassOf 'gamma-amino butyric acid metabolism disorder' http://purl.obolibrary.org/obo/MONDO_0013161 autosomal recessive limb-girdle muscular dystrophy type 2O 'autosomal recessive limb-girdle muscular dystrophy type 2O' SubClassOf 'myopathy caused by variation in POMGNT1' 'autosomal recessive limb-girdle muscular dystrophy type 2O' SubClassOf 'disorder of O-mannosylglycan synthesis' 'autosomal recessive limb-girdle muscular dystrophy type 2O' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' 'autosomal recessive limb-girdle muscular dystrophy type 2O' SubClassOf 'muscular dystrophy-dystroglycanopathy, type C' 'autosomal recessive limb-girdle muscular dystrophy type 2O' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0013164 beta-ureidopropionase deficiency 'beta-ureidopropionase deficiency' SubClassOf 'inborn disorder of pyrimidine metabolism' 'beta-ureidopropionase deficiency' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0013165 hereditary spastic paraplegia 45 'hereditary spastic paraplegia 45' SubClassOf 'autosomal recessive complex spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0013162 autosomal recessive limb-girdle muscular dystrophy type 2N 'autosomal recessive limb-girdle muscular dystrophy type 2N' SubClassOf 'neurometabolic disease' 'autosomal recessive limb-girdle muscular dystrophy type 2N' SubClassOf 'muscular dystrophy-dystroglycanopathy, type C' 'autosomal recessive limb-girdle muscular dystrophy type 2N' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' 'autosomal recessive limb-girdle muscular dystrophy type 2N' SubClassOf 'disorder of O-mannosylglycan synthesis' 'autosomal recessive limb-girdle muscular dystrophy type 2N' SubClassOf 'qualitative or quantitative defects of protein O-mannosyltransferase 2' 'autosomal recessive limb-girdle muscular dystrophy type 2N' SubClassOf 'myopathy caused by variation in POMT2' http://purl.obolibrary.org/obo/MONDO_0013179 hereditary spastic paraplegia 44 'hereditary spastic paraplegia 44' SubClassOf 'autosomal recessive complex spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0013177 congenital muscular dystrophy due to integrin alpha-7 deficiency 'congenital muscular dystrophy due to integrin alpha-7 deficiency' SubClassOf 'qualitative or quantitative defects of integrin alpha-7' 'congenital muscular dystrophy due to integrin alpha-7 deficiency' SubClassOf 'congenital muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0013178 congenital muscular dystrophy due to LMNA mutation 'congenital muscular dystrophy due to LMNA mutation' SubClassOf 'congenital muscular dystrophy' 'congenital muscular dystrophy due to LMNA mutation' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0013171 purine nucleoside phosphorylase deficiency 'purine nucleoside phosphorylase deficiency' SubClassOf 'non-SCID combined immunodeficiency' 'purine nucleoside phosphorylase deficiency' SubClassOf 'inborn disorder of purine metabolism' http://purl.obolibrary.org/obo/MONDO_0013172 polymicrogyria with optic nerve hypoplasia 'polymicrogyria with optic nerve hypoplasia' SubClassOf 'complex cortical dysplasia with other brain malformations' http://purl.obolibrary.org/obo/MONDO_0013170 cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies 'cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies' SubClassOf 'inherited cutis laxa' 'cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0013176 Weill-Marchesani 4 syndrome, recessive 'Weill-Marchesani 4 syndrome, recessive' SubClassOf 'Weill-Marchesani syndrome' 'Weill-Marchesani 4 syndrome, recessive' SubClassOf 'autosomal ichthyosis syndrome' 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 'genetic nervous system disorder' 'chromosome 17p13.3 duplication syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'chromosome 17p13.3 duplication syndrome' SubClassOf 'partial duplication of the short arm of chromosome 17' 'chromosome 17p13.3 duplication syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'chromosome 17p13.3 duplication syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0013184 congenital diarrhea 5 with tufting enteropathy 'congenital diarrhea 5 with tufting enteropathy' SubClassOf 'congenital secretory diarrhea' 'congenital diarrhea 5 with tufting enteropathy' SubClassOf 'congenital enteropathy involving intestinal mucosa development' 'congenital diarrhea 5 with tufting enteropathy' SubClassOf 'intractable diarrhea of infancy' http://purl.obolibrary.org/obo/MONDO_0015802 autosomal dominant non-syndromic intellectual disability 'autosomal dominant non-syndromic intellectual disability' SubClassOf 'intellectual disability, autosomal dominant' 'autosomal dominant non-syndromic intellectual disability' SubClassOf 'non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0015801 hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation 'hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation' SubClassOf 'hemorrhagic disease' 'hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation' SubClassOf 'coagulation protein disease' http://purl.obolibrary.org/obo/MONDO_0015800 osteosclerosis-developmental delay-craniosynostosis syndrome 'osteosclerosis-developmental delay-craniosynostosis syndrome' SubClassOf 'syndromic craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0015827 distal renal tubular acidosis 'distal renal tubular acidosis' SubClassOf 'primary renal tubular acidosis' http://purl.obolibrary.org/obo/MONDO_0015826 autosomal dominant spondylocostal dysostosis 'autosomal dominant spondylocostal dysostosis' SubClassOf 'spondylocostal dysostosis' 'autosomal dominant spondylocostal dysostosis' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0015824 oculomaxillofacial dysostosis 'oculomaxillofacial dysostosis' SubClassOf 'dysostosis of genetic origin' 'oculomaxillofacial dysostosis' SubClassOf 'genetic otorhinolaryngologic disease' 'oculomaxillofacial dysostosis' SubClassOf 'orofacial clefting syndrome' http://purl.obolibrary.org/obo/MONDO_0015823 primary immunodeficiency due to a defect in adaptive immunity 'primary immunodeficiency due to a defect in adaptive immunity' SubClassOf 'inborn errors of immunity' 'primary immunodeficiency due to a defect in adaptive immunity' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015831 unilateral aplasia of the mullerian ducts 'unilateral aplasia of the mullerian ducts' SubClassOf 'mullerian aplasia' http://purl.obolibrary.org/obo/MONDO_0015830 partial bilateral aplasia of the mullerian ducts 'partial bilateral aplasia of the mullerian ducts' SubClassOf 'mullerian aplasia' http://purl.obolibrary.org/obo/MONDO_0015833 pseudounicornuate uterus 'pseudounicornuate uterus' SubClassOf 'unilateral aplasia of the mullerian ducts' http://purl.obolibrary.org/obo/MONDO_0015832 true unicornuate uterus 'true unicornuate uterus' SubClassOf 'unilateral aplasia of the mullerian ducts' http://purl.obolibrary.org/obo/MONDO_0013208 cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome 'cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome' SubClassOf 'genetic nervous system disorder' 'cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome' SubClassOf 'parkinsonian disorder' 'cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome' SubClassOf 'disorder of manganese transport' 'cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome' SubClassOf 'hypermanganesemia with dystonia' http://purl.obolibrary.org/obo/MONDO_0013212 Charcot-Marie-Tooth disease axonal type 2N 'Charcot-Marie-Tooth disease axonal type 2N' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://purl.obolibrary.org/obo/MONDO_0013223 autosomal recessive spondylometaphyseal dysplasia, Megarbane type 'autosomal recessive spondylometaphyseal dysplasia, Megarbane type' SubClassOf 'spondylometaphyseal dysplasia' 'autosomal recessive spondylometaphyseal dysplasia, Megarbane type' SubClassOf 'spondylodysplastic dysplasia' http://purl.obolibrary.org/obo/MONDO_0015884 autosomal dominant hypohidrotic ectodermal dysplasia 'autosomal dominant hypohidrotic ectodermal dysplasia' SubClassOf 'autosomal dominant disease' 'autosomal dominant hypohidrotic ectodermal dysplasia' SubClassOf 'hypohidrotic ectodermal dysplasia' http://purl.obolibrary.org/obo/MONDO_0013222 Miyoshi muscular dystrophy 3 'Miyoshi muscular dystrophy 3' SubClassOf 'Miyoshi myopathy' http://purl.obolibrary.org/obo/MONDO_0015883 hidrotic ectodermal dysplasia, Halal type 'hidrotic ectodermal dysplasia, Halal type' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0013227 congenital plasminogen activator inhibitor type 1 deficiency 'congenital plasminogen activator inhibitor type 1 deficiency' SubClassOf 'hemorrhagic disease' 'congenital plasminogen activator inhibitor type 1 deficiency' SubClassOf 'coagulation protein disease' 'congenital plasminogen activator inhibitor type 1 deficiency' SubClassOf 'inherited blood coagulation disorder' 'congenital plasminogen activator inhibitor type 1 deficiency' SubClassOf 'congenital hematological disorder' http://purl.obolibrary.org/obo/MONDO_0013228 spondylo-megaepiphyseal-metaphyseal dysplasia 'spondylo-megaepiphyseal-metaphyseal dysplasia' SubClassOf 'genetic disorder' 'spondylo-megaepiphyseal-metaphyseal dysplasia' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0013225 congenital generalized lipodystrophy type 4 'congenital generalized lipodystrophy type 4' SubClassOf 'has modifier' some 'congenital' 'congenital generalized lipodystrophy type 4' SubClassOf 'diabetes mellitus' 'congenital generalized lipodystrophy type 4' SubClassOf 'congenital generalized lipodystrophy' 'congenital generalized lipodystrophy type 4' SubClassOf 'non-dystrophic myopathy' 'congenital generalized lipodystrophy type 4' SubClassOf 'genetic cardiac rhythm disease' http://purl.obolibrary.org/obo/MONDO_0013226 combined immunodeficiency with faciooculoskeletal anomalies 'combined immunodeficiency with faciooculoskeletal anomalies' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'combined immunodeficiency with faciooculoskeletal anomalies' SubClassOf 'primary immunodeficiency due to a defect in adaptive immunity' http://purl.obolibrary.org/obo/MONDO_0000651 thoracic disorder 'thoracic disorder' SubClassOf 'disease' http://purl.obolibrary.org/obo/MONDO_0000265 aspiration pneumonia 'aspiration pneumonia' SubClassOf 'pneumonia' http://purl.obolibrary.org/obo/MONDO_0044988 hip region disorder 'hip region disorder' SubClassOf 'disease' http://purl.obolibrary.org/obo/MONDO_0044967 limb disorder 'limb disorder' SubClassOf 'disease'