77 65 1 http://www.orpha.net/ORDO/Orphanet_397750 Periodic paralysis with later-onset distal motor neuropathy 'Periodic paralysis with later-onset distal motor neuropathy' SubClassOf 'congenital nervous system disorder' 'Periodic paralysis with later-onset distal motor neuropathy' SubClassOf 'neuromuscular disease' http://purl.obolibrary.org/obo/MONDO_0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 'juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome' SubClassOf 'Juvenile polyposis syndrome' 'juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome' SubClassOf 'Genetic intestinal polyposis' 'juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome' SubClassOf 'intestinal polyposis syndrome' http://www.orpha.net/ORDO/Orphanet_1437 Ring chromosome 1 'Ring chromosome 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700091 http://www.orpha.net/ORDO/Orphanet_1438 Ring chromosome 10 'Ring chromosome 10' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700091 http://www.orpha.net/ORDO/Orphanet_1440 Ring chromosome 14 'Ring chromosome 14' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700091 http://www.orpha.net/ORDO/Orphanet_1441 Ring chromosome 17 'Ring chromosome 17' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700091 http://www.orpha.net/ORDO/Orphanet_1448 Ring chromosome 6 'Ring chromosome 6' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700091 http://www.orpha.net/ORDO/Orphanet_1449 Ring chromosome 7 'Ring chromosome 7' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700091 http://www.orpha.net/ORDO/Orphanet_1446 Ring chromosome 22 'Ring chromosome 22' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700091 http://www.orpha.net/ORDO/Orphanet_1447 Ring chromosome 4 'Ring chromosome 4' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700091 http://www.orpha.net/ORDO/Orphanet_1444 Ring chromosome 20 'Ring chromosome 20' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700091 http://www.orpha.net/ORDO/Orphanet_1445 Ring chromosome 21 'Ring chromosome 21' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700091 http://www.orpha.net/ORDO/Orphanet_1442 Ring chromosome 18 'Ring chromosome 18' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700091 http://www.orpha.net/ORDO/Orphanet_1443 Ring chromosome 19 'Ring chromosome 19' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700091 http://www.orpha.net/ORDO/Orphanet_1439 Ring chromosome 12 'Ring chromosome 12' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700091 http://www.orpha.net/ORDO/Orphanet_96201 X small rings 'X small rings' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700091 http://www.orpha.net/ORDO/Orphanet_238583 Hyperphenylalaninemia 'Hyperphenylalaninemia' SubClassOf 'disease shares features of' some 'Phenylketonuria' 'Hyperphenylalaninemia' SubClassOf 'disease shares features of' some 'Phenylketonuria' http://www.orpha.net/ORDO/Orphanet_238722 Familial congenital mirror movements 'Familial congenital mirror movements' SubClassOf 'movement disorder' 'Familial congenital mirror movements' SubClassOf 'movement disorder' http://www.orpha.net/ORDO/Orphanet_26 Methylmalonic acidemia with homocystinuria 'Methylmalonic acidemia with homocystinuria' SubClassOf 'methylmalonic acidemia' 'Methylmalonic acidemia with homocystinuria' SubClassOf 'homocystinuria' 'Methylmalonic acidemia with homocystinuria' SubClassOf 'methylmalonic acidemia' 'Methylmalonic acidemia with homocystinuria' SubClassOf 'homocystinuria' http://www.ebi.ac.uk/efo/EFO_0004707 infantile hypertrophic pyloric stenosis 'infantile hypertrophic pyloric stenosis' SubClassOf 'pyloric stenosis' 'infantile hypertrophic pyloric stenosis' SubClassOf 'pyloric stenosis' http://purl.obolibrary.org/obo/HP_0002571 Achalasia 'Achalasia' SubClassOf 'Abnormality of esophagus physiology' http://www.orpha.net/ORDO/Orphanet_300382 Progeroid and marfanoid aspect-lipodystrophy syndrome 'Progeroid and marfanoid aspect-lipodystrophy syndrome' SubClassOf 'hereditary connective tissue disorder' http://www.ebi.ac.uk/efo/EFO_1000722 Kimura disease 'Kimura disease' SubClassOf 'skin disease' 'Kimura disease' SubClassOf 'systemic disease' 'Kimura disease' SubClassOf 'type II hypersensitivity reaction disease' 'Kimura disease' SubClassOf 'skin disease' 'Kimura disease' SubClassOf 'lymphadenitis' http://www.orpha.net/ORDO/Orphanet_251043 Ring chromosome 5 'Ring chromosome 5' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700091 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 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_79102 Thyrotoxic periodic paralysis 'Thyrotoxic periodic paralysis' SubClassOf 'familial periodic paralysis' 'Thyrotoxic periodic paralysis' SubClassOf 'familial periodic paralysis' 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://purl.obolibrary.org/obo/MONDO_0100411 acute myeloid leukemia, NPM1 gene mutation 'acute myeloid leukemia, NPM1 gene mutation' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia, NPM1 gene mutation' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, NPM1 gene mutation' SubClassOf 'bilineal acute myeloid leukemia' 'acute myeloid leukemia, NPM1 gene mutation' SubClassOf 'acute leukemia of ambiguous lineage' 'acute myeloid leukemia, NPM1 gene mutation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0018865 striate palmoplantar keratoderma 'striate palmoplantar keratoderma' SubClassOf 'Isolated focal palmoplantar keratoderma' http://www.orpha.net/ORDO/Orphanet_261529 Ring chromosome Y 'Ring chromosome Y' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700091 http://purl.obolibrary.org/obo/MONDO_0000166 encephalopathy, acute, infection-induced 'encephalopathy, acute, infection-induced' SubClassOf 'brain disease' 'encephalopathy, acute, infection-induced' SubClassOf 'brain disease' http://purl.obolibrary.org/obo/MONDO_0000160 epilepsy, familial adult myoclonic 'epilepsy, familial adult myoclonic' SubClassOf 'Early myoclonic encephalopathy' 'epilepsy, familial adult myoclonic' SubClassOf 'Early myoclonic encephalopathy' 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 'Congenital muscular dystrophy due to dystroglycanopathy' 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 'Congenital muscular dystrophy due to dystroglycanopathy' http://www.ebi.ac.uk/efo/EFO_0007467 Reye syndrome 'Reye syndrome' SubClassOf 'rheumatic disease' http://purl.obolibrary.org/obo/MONDO_0000045 hypothyroidism, congenital, nongoitrous 'hypothyroidism, congenital, nongoitrous' SubClassOf 'Congenital hypothyroidism' 'hypothyroidism, congenital, nongoitrous' SubClassOf 'Congenital hypothyroidism' http://purl.obolibrary.org/obo/MONDO_0000060 microcephalic osteodysplastic primordial dwarfism 'microcephalic osteodysplastic primordial dwarfism' SubClassOf 'microcephaly' 'microcephalic osteodysplastic primordial dwarfism' SubClassOf 'microcephaly' http://purl.obolibrary.org/obo/MONDO_0000075 neuronopathy, distal hereditary motor 'neuronopathy, distal hereditary motor' SubClassOf 'motor neuron disease' 'neuronopathy, distal hereditary motor' SubClassOf 'motor neuron disease' http://purl.obolibrary.org/obo/MONDO_0000090 progressive external ophthalmoplegia with mitochondrial DNA deletions 'progressive external ophthalmoplegia with mitochondrial DNA deletions' SubClassOf 'progressive external ophthalmoplegia' 'progressive external ophthalmoplegia with mitochondrial DNA deletions' SubClassOf 'progressive external ophthalmoplegia' http://www.orpha.net/ORDO/Orphanet_75377 Central areolar choroidal dystrophy 'Central areolar choroidal dystrophy' SubClassOf 'optic choroid disease' 'Central areolar choroidal dystrophy' SubClassOf 'optic choroid disease' http://purl.obolibrary.org/obo/MONDO_0000105 anemia, nonspherocytic hemolytic 'anemia, nonspherocytic hemolytic' SubClassOf 'congenital nonspherocytic hemolytic anemia' 'anemia, nonspherocytic hemolytic' SubClassOf 'congenital nonspherocytic hemolytic anemia' http://purl.obolibrary.org/obo/MONDO_0000104 anemia, hypochromic microcytic with iron overload 'anemia, hypochromic microcytic with iron overload' SubClassOf 'hypochromic microcytic anemia' 'anemia, hypochromic microcytic with iron overload' SubClassOf 'hypochromic microcytic anemia' 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_0000137 leukoencephalopathy, megalencephalic 'leukoencephalopathy, megalencephalic' SubClassOf 'brain disease' 'leukoencephalopathy, megalencephalic' SubClassOf 'brain disease' http://purl.obolibrary.org/obo/MONDO_0000148 pulmonary fibrosis and/or bone marrow failure, telomere-related 'pulmonary fibrosis and/or bone marrow failure, telomere-related' SubClassOf 'bone marrow disease' 'pulmonary fibrosis and/or bone marrow failure, telomere-related' SubClassOf 'pulmonary fibrosis' 'pulmonary fibrosis and/or bone marrow failure, telomere-related' SubClassOf 'bone marrow disease' 'pulmonary fibrosis and/or bone marrow failure, telomere-related' SubClassOf 'pulmonary fibrosis' http://purl.obolibrary.org/obo/MONDO_0000159 bone marrow failure syndrome 'bone marrow failure syndrome' SubClassOf 'bone marrow disease' 'bone marrow failure syndrome' SubClassOf 'bone marrow disease' http://purl.obolibrary.org/obo/MONDO_0000009 inherited bleeding disorder, platelet-type 'inherited bleeding disorder, platelet-type' SubClassOf 'blood platelet disease' 'inherited bleeding disorder, platelet-type' SubClassOf 'blood platelet disease' http://purl.obolibrary.org/obo/MONDO_0000015 classic complement early component deficiency 'classic complement early component deficiency' SubClassOf 'complement deficiency' 'classic complement early component deficiency' SubClassOf 'complement deficiency' http://purl.obolibrary.org/obo/MONDO_0000014 colorblindness, partial 'colorblindness, partial' SubClassOf 'Color-vision disease' 'colorblindness, partial' SubClassOf 'Color-vision disease' http://purl.obolibrary.org/obo/MONDO_0000030 epilepsy, nocturnal frontal lobe 'epilepsy, nocturnal frontal lobe' SubClassOf 'frontal lobe epilepsy' 'epilepsy, nocturnal frontal lobe' SubClassOf 'frontal lobe epilepsy' http://www.orpha.net/ORDO/Orphanet_83473 Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus 'Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus' SubClassOf 'Polydactyly' 'Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus' SubClassOf 'Polydactyly' http://www.ebi.ac.uk/efo/EFO_1001502 rasopathy 'rasopathy' SubClassOf 'genetic disorder' 'rasopathy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0000819 anencephaly 'anencephaly' SubClassOf 'Rare genetic neurological disorder' http://purl.obolibrary.org/obo/MONDO_0000824 congenital diarrhea 'congenital diarrhea' SubClassOf 'diarrheal disease' 'congenital diarrhea' SubClassOf 'diarrheal disease' http://www.orpha.net/ORDO/Orphanet_2380 Legg-Calvé-Perthes disease 'Legg-Calvé-Perthes disease' SubClassOf 'collagenopathy type 2 alpha 1' 'Legg-Calvé-Perthes disease' SubClassOf 'Type 2 collagen-related bone disorder' 'Legg-Calvé-Perthes disease' SubClassOf 'Osteochondrosis of genetic origin' 'Legg-Calvé-Perthes disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044988 'Legg-Calvé-Perthes disease' SubClassOf 'disease has feature' some 'osteonecrosis' 'Legg-Calvé-Perthes disease' SubClassOf 'Osteonecrosis of genetic origin' 'Legg-Calvé-Perthes disease' SubClassOf 'Type 2 collagen-related bone disorder' http://www.orpha.net/ORDO/Orphanet_2340 Keratosis follicularis spinulosa decalvans 'Keratosis follicularis spinulosa decalvans' SubClassOf 'keratosis' 'Keratosis follicularis spinulosa decalvans' SubClassOf 'folliculitis' 'Keratosis follicularis spinulosa decalvans' SubClassOf 'keratosis' 'Keratosis follicularis spinulosa decalvans' SubClassOf 'folliculitis' http://purl.obolibrary.org/obo/MONDO_0007859 palmoplantar keratoderma i, striate, focal, or diffuse 'palmoplantar keratoderma i, striate, focal, or diffuse' SubClassOf 'striate palmoplantar keratoderma' 'palmoplantar keratoderma i, striate, focal, or diffuse' SubClassOf 'Hereditary palmoplantar keratoderma' http://www.orpha.net/ORDO/Orphanet_643 Giant axonal neuropathy 'Giant axonal neuropathy' SubClassOf 'axonal neuropathy' 'Giant axonal neuropathy' SubClassOf 'axonal neuropathy' http://purl.obolibrary.org/obo/HP_0001649 Tachycardia 'Tachycardia' SubClassOf 'Abnormality of cardiovascular system electrophysiology' 'Tachycardia' SubClassOf 'Ventricular arrhythmia' http://www.orpha.net/ORDO/Orphanet_284993 Marfan and Marfan-related disorder 'Marfan and Marfan-related disorder' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_284979 Neonatal Marfan syndrome 'Neonatal Marfan syndrome' SubClassOf 'Marfan and Marfan-related disorder' 'Neonatal Marfan syndrome' SubClassOf 'Marfan syndrome' 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 'Frontotemporal dementia' 'Inclusion body myopathy with Paget disease of bone and frontotemporal dementia' SubClassOf 'Frontotemporal dementia' http://purl.obolibrary.org/obo/HP_0011999 Paranoia 'Paranoia' SubClassOf 'Behavioral abnormality' 'Paranoia' SubClassOf http://purl.obolibrary.org/obo/HP_0000746 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_402003 Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering 'Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering' SubClassOf 'Non-epidermolytic palmoplantar keratoderma' 'Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering' SubClassOf 'Isolated focal palmoplantar keratoderma' 'Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering' SubClassOf 'Hereditary palmoplantar keratoderma' 'Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering' SubClassOf 'Isolated focal palmoplantar keratoderma' http://www.orpha.net/ORDO/Orphanet_96175 Ring chromosome 11 'Ring chromosome 11' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700091 http://www.orpha.net/ORDO/Orphanet_96176 Ring chromosome 13 'Ring chromosome 13' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700091 http://www.orpha.net/ORDO/Orphanet_96177 Ring chromosome 15 'Ring chromosome 15' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700091 http://www.orpha.net/ORDO/Orphanet_96178 Ring chromosome 16 'Ring chromosome 16' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700091 http://www.orpha.net/ORDO/Orphanet_96171 Ring chromosome 2 'Ring chromosome 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700091 http://www.orpha.net/ORDO/Orphanet_96172 Ring chromosome 3 'Ring chromosome 3' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700091 http://www.orpha.net/ORDO/Orphanet_96173 Ring chromosome 9 'Ring chromosome 9' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700091 http://www.orpha.net/ORDO/Orphanet_306661 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome 'familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome' SubClassOf 'calcinosis' 'familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome' SubClassOf 'calcinosis' http://www.orpha.net/ORDO/Orphanet_98249 Ehlers-Danlos syndrome 'Ehlers-Danlos syndrome' SubClassOf 'hereditary connective tissue disorder' http://www.orpha.net/ORDO/Orphanet_294023 Neonatal inflammatory skin and bowel disease 'Neonatal inflammatory skin and bowel disease' SubClassOf 'inflammatory bowel disease' 'Neonatal inflammatory skin and bowel disease' SubClassOf 'inflammatory bowel disease' http://www.orpha.net/ORDO/Orphanet_140908 Brachydactyly type B2 'Brachydactyly type B2' SubClassOf 'Syndrome with brachydactyly' 'Brachydactyly type B2' SubClassOf 'Brachydactyly type B' http://purl.obolibrary.org/obo/HP_0031685 Abnormal stool composition 'Abnormal stool composition' SubClassOf 'Abnormality of metabolism/homeostasis' http://purl.obolibrary.org/obo/MONDO_0011629 MOGS-CDG 'MOGS-CDG' SubClassOf 'metabolic disease with epilepsy' 'MOGS-CDG' SubClassOf 'Congenital disorder of glycosylation with hepatic involvement' 'MOGS-CDG' SubClassOf 'congenital disorder of glycosylation type II' 'MOGS-CDG' SubClassOf 'Disorder of protein N-glycosylation' 'MOGS-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' http://purl.obolibrary.org/obo/MONDO_0045003 scrotal disease 'scrotal disease' SubClassOf 'disorder by anatomical region' 'scrotal disease' SubClassOf 'male reproductive system disease' http://purl.obolibrary.org/obo/MONDO_0018528 congenital myopathy with myasthenic-like onset 'congenital myopathy with myasthenic-like onset' SubClassOf 'RYR1-related myopathy' http://purl.obolibrary.org/obo/MONDO_0043544 nosocomial infection 'nosocomial infection' SubClassOf 'iatrogenic disease' 'nosocomial infection' EquivalentTo 'iatrogenic disease' and 'infectious disease' 'nosocomial infection' SubClassOf 'infectious disease' http://purl.obolibrary.org/obo/MONDO_0043543 iatrogenic disease 'iatrogenic disease' SubClassOf 'disease' http://purl.obolibrary.org/obo/HP_0000689 Dental malocclusion 'Dental malocclusion' SubClassOf 'Abnormality of the dentition' http://purl.obolibrary.org/obo/MONDO_0008710 RAB23-related Carpenter syndrome 'RAB23-related Carpenter syndrome' SubClassOf 'Carpenter syndrome' http://purl.obolibrary.org/obo/HP_0000746 Delusions 'Delusions' SubClassOf 'Behavioral abnormality' http://purl.obolibrary.org/obo/MONDO_0002319 phosphorus metabolism disease 'phosphorus metabolism disease' SubClassOf 'mineral metabolism disease' http://purl.obolibrary.org/obo/MONDO_0014128 TCF12-related craniosynostosis 'TCF12-related craniosynostosis' SubClassOf 'Isolated brachycephaly' 'TCF12-related craniosynostosis' SubClassOf 'Isolated plagiocephaly' http://purl.obolibrary.org/obo/MONDO_0100275 fatty acyl-CoA reductase defects 'fatty acyl-CoA reductase defects' SubClassOf 'disorder of plasmalogens biosynthesis' http://purl.obolibrary.org/obo/MONDO_0100337 SEC61A1 deficiency 'SEC61A1 deficiency' SubClassOf 'genetic disorder' 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 'disorder of peroxisomal transporter' 'acyl-CoA binding domain containing protein 5 deficiency' SubClassOf 'disorder of plasmalogens biosynthesis' 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 'autosomal recessive disease' 'SCN4A-related myopathy, autosomal recessive' SubClassOf 'Congenital myopathy' http://purl.obolibrary.org/obo/MONDO_0100053 anaphylaxis 'anaphylaxis' SubClassOf 'hypersensitivity reaction disease' http://purl.obolibrary.org/obo/MONDO_0100054 idiopathic anaphylaxis 'idiopathic anaphylaxis' EquivalentTo 'anaphylaxis' and ('has modifier' some 'idiopathic') 'idiopathic anaphylaxis' SubClassOf 'idiopathic disease' 'idiopathic anaphylaxis' SubClassOf 'anaphylaxis' http://purl.obolibrary.org/obo/MONDO_0600001 glutaminase deficiency 'glutaminase deficiency' SubClassOf 'Neurometabolic disease' 'glutaminase deficiency' SubClassOf 'Disorder of glutamine metabolism' http://www.ebi.ac.uk/efo/EFO_0020006 enterocele 'enterocele' SubClassOf 'prolapse of female genital organ' http://purl.obolibrary.org/obo/MONDO_0000661 alexithymia 'alexithymia' SubClassOf 'agnosia' http://purl.obolibrary.org/obo/MONDO_0000572 recombinase activating gene 1 deficiency 'recombinase activating gene 1 deficiency' SubClassOf 'Severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0012186 Fanconi anemia complementation group I 'Fanconi anemia complementation group I' SubClassOf 'Fanconi anemia' http://purl.obolibrary.org/obo/HP_0005206 Pancreatic pseudocyst 'Pancreatic pseudocyst' SubClassOf 'Abnormality of the abdominal organs' http://purl.obolibrary.org/obo/MONDO_0700091 ring chromosome anomaly 'ring chromosome anomaly' SubClassOf 'Chromosomal anomaly' http://purl.obolibrary.org/obo/HP_0005268 Spontaneous abortion 'Spontaneous abortion' SubClassOf 'Abnormal delivery' http://purl.obolibrary.org/obo/MONDO_0700000 ALG9-associated autosomal dominant polycystic kidney disease 'ALG9-associated autosomal dominant polycystic kidney disease' SubClassOf 'Autosomal dominant polycystic kidney disease' http://purl.obolibrary.org/obo/MONDO_0014564 congenital bile acid synthesis defect 5 'congenital bile acid synthesis defect 5' SubClassOf 'disorder of peroxisomal transporter' 'congenital bile acid synthesis defect 5' SubClassOf 'Congenital bile acid synthesis defect' 'congenital bile acid synthesis defect 5' SubClassOf 'Cerebral organic aciduria' http://www.ebi.ac.uk/efo/EFO_0030032 B6.SJL-Slc6a3tm1.1(cre)Bkmn/J 'B6.SJL-Slc6a3tm1.1(cre)Bkmn/J' SubClassOf 'Mus musculus' http://www.ebi.ac.uk/efo/EFO_0030035 cancer cell line sample 'cancer cell line sample' SubClassOf 'neoplastic sample' http://www.ebi.ac.uk/efo/EFO_0030033 gRNA-seq 'gRNA-seq' SubClassOf 'amplicon sequencing' 'gRNA-seq' SubClassOf 'RNA assay' http://www.ebi.ac.uk/efo/EFO_0030034 shRNA-seq 'shRNA-seq' SubClassOf 'amplicon sequencing' 'shRNA-seq' SubClassOf 'RNA assay' http://www.ebi.ac.uk/efo/EFO_0030039 no follow-up status 'no follow-up status' SubClassOf 'follow-up status' http://www.ebi.ac.uk/efo/EFO_0030038 follow-up status 'follow-up status' SubClassOf 'quality' http://www.ebi.ac.uk/efo/EFO_0030042 alive with disease 'alive with disease' SubClassOf 'alive (follow-up status)' http://www.ebi.ac.uk/efo/EFO_0030043 alive in partial remission 'alive in partial remission' SubClassOf 'alive with disease' http://www.ebi.ac.uk/efo/EFO_0030040 recorded follow-up status 'recorded follow-up status' SubClassOf 'follow-up status' http://www.ebi.ac.uk/efo/EFO_0030041 alive (follow-up status) 'alive (follow-up status)' SubClassOf 'recorded follow-up status' http://www.ebi.ac.uk/efo/EFO_0030046 alive with progressive disease 'alive with progressive disease' SubClassOf 'alive with disease' http://www.ebi.ac.uk/efo/EFO_0030047 alive with metastatic disease 'alive with metastatic disease' SubClassOf 'alive with disease' http://www.ebi.ac.uk/efo/EFO_0030044 alive with stable disease 'alive with stable disease' SubClassOf 'alive with disease' http://www.ebi.ac.uk/efo/EFO_0030045 alive with recurrent disease 'alive with recurrent disease' SubClassOf 'alive with disease' http://www.ebi.ac.uk/efo/EFO_0030048 alive in complete remission 'alive in complete remission' SubClassOf 'alive (follow-up status)' http://www.ebi.ac.uk/efo/EFO_0030049 dead (follow-up status) 'dead (follow-up status)' SubClassOf 'recorded follow-up status' http://www.ebi.ac.uk/efo/EFO_0030051 death from other causes 'death from other causes' SubClassOf 'dead (follow-up status)' http://www.ebi.ac.uk/efo/EFO_0030050 death from disease 'death from disease' SubClassOf 'dead (follow-up status)' 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 'Metabolic disease with cataract' 'fatty acyl-CoA reductase 1 deficiency' SubClassOf 'fatty acyl-CoA reductase defects' 'fatty acyl-CoA reductase 1 deficiency' SubClassOf 'syndromic intellectual disability' 'fatty acyl-CoA reductase 1 deficiency' SubClassOf 'Rare syndromic dyslipidemia' 'fatty acyl-CoA reductase 1 deficiency' SubClassOf 'peroxisomal disease with epilepsy' http://ebi.ac.uk/efo/EFO_0600035 left atrial volume measurement 'left atrial volume measurement' SubClassOf 'cardiovascular measurement' http://ebi.ac.uk/efo/EFO_0600034 response to neuromuscular blocker 'response to neuromuscular blocker' SubClassOf 'response to drug' http://ebi.ac.uk/efo/EFO_0600033 response to mitochondrial complex I inhibitor 'response to mitochondrial complex I inhibitor' SubClassOf 'response to drug' http://purl.obolibrary.org/obo/MONDO_0009855 d-bifunctional protein deficiency 'd-bifunctional protein deficiency' SubClassOf 'Peroxisomal beta-oxidation disorder' http://purl.obolibrary.org/obo/HP_0040270 Impaired glucose tolerance 'Impaired glucose tolerance' SubClassOf 'Glucose intolerance' http://purl.obolibrary.org/obo/MONDO_0010459 amyotrophic lateral sclerosis type 15 'amyotrophic lateral sclerosis type 15' SubClassOf 'familial amyotrophic lateral sclerosis' http://purl.obolibrary.org/obo/MONDO_0009214 Fanconi anemia complementation group D2 'Fanconi anemia complementation group D2' SubClassOf 'Fanconi anemia' http://purl.obolibrary.org/obo/HP_0025004 Hallux rigidus 'Hallux rigidus' SubClassOf 'Abnormality of toe' 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 'neurovascular disease' 'microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability' SubClassOf 'Syndrome with microcephaly as major feature' http://purl.obolibrary.org/obo/MONDO_0044988 hip region disease 'hip region disease' SubClassOf 'disorder by anatomical region' http://purl.obolibrary.org/obo/MONDO_0032795 intellectual developmental disorder 59 'intellectual developmental disorder 59' SubClassOf 'Autosomal dominant non-syndromic intellectual disability' 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' http://purl.obolibrary.org/obo/MONDO_0054701 Kleefstra syndrome 2 'Kleefstra syndrome 2' SubClassOf 'Kleefstra syndrome' http://purl.obolibrary.org/obo/MONDO_0011190 nephronophthisis 2 'nephronophthisis 2' SubClassOf 'Nephronophthisis' http://purl.obolibrary.org/obo/MONDO_0013862 immunodeficiency, common variable, 7 'immunodeficiency, common variable, 7' SubClassOf 'Common variable immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0013891 amyotrophic lateral sclerosis type 18 'amyotrophic lateral sclerosis type 18' SubClassOf 'familial amyotrophic lateral sclerosis' http://purl.obolibrary.org/obo/HP_0031364 Ecchymosis 'Ecchymosis' SubClassOf 'Purpura' http://purl.obolibrary.org/obo/MONDO_0001498 varicocele 'varicocele' SubClassOf 'scrotal disease' 'varicocele' SubClassOf 'pelvic varices' http://purl.obolibrary.org/obo/MONDO_0013286 immunodeficiency, common variable, 6 'immunodeficiency, common variable, 6' SubClassOf 'Common variable immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0013284 immunodeficiency, common variable, 4 'immunodeficiency, common variable, 4' SubClassOf 'Common variable immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0018865 striate palmoplantar keratoderma 'striate palmoplantar keratoderma' SubClassOf 'Isolated focal palmoplantar keratoderma'