{"id":"http://purl.bioontology.org/ontology/OMIM/620300","synonym":["MTPD2","MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 2 WITH MYOPATHY AND NEUROPATHY"],"notation":"620300","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C5830693","C5830374"],"prefLabel":"MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 2","label":[],"definition":[],"obsolete":false,"prefixIRI":null,"subClassOf":[],"xref":null,"inScheme":[],"created":null,"modified":null,"memberOf":[],"altLabelXl":[],"hiddenLabelXl":[],"parents":[],"prefLabelXl":[],"isInActiveScheme":[null],"isInActiveCollection":[],"properties":{"http://www.w3.org/2004/02/skos/core#altLabel":["MTPD2","MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 2 WITH MYOPATHY AND NEUROPATHY"],"http://purl.bioontology.org/ontology/OMIM/GENESYMBOL":["HADHB","MTPD2"],"http://purl.bioontology.org/ontology/OMIM/SOS":["Childhood or adolescent onset, protracted, with myopathy and neuropathy [MISCELLANEOUS]","Caused by mutation in the beta subunit of the hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (HADHB, 143450.0001) [MOLECULAR BASIS]","Three major clinical forms are apparent [MISCELLANEOUS]","Symptoms may be aggravated by acute illness [MISCELLANEOUS]","Rapidly progressive neonatal onset with early death [MISCELLANEOUS]","Infantile onset with hepatic involvement [MISCELLANEOUS]","Many patients die from heart failure [MISCELLANEOUS]","Sudden infant death may occur [MISCELLANEOUS]"],"http://www.w3.org/1999/02/22-rdf-syntax-ns#type":["http://www.w3.org/2002/07/owl#Class"],"http://purl.bioontology.org/ontology/OMIM/has_manifestation":["http://purl.bioontology.org/ontology/OMIM/MTHU006713","http://purl.bioontology.org/ontology/OMIM/MTHU036870","http://purl.bioontology.org/ontology/OMIM/MTHU001652","http://purl.bioontology.org/ontology/OMIM/MTHU000691","http://purl.bioontology.org/ontology/OMIM/MTHU022103","http://purl.bioontology.org/ontology/OMIM/MTHU000197","http://purl.bioontology.org/ontology/OMIM/MTHU036657","http://purl.bioontology.org/ontology/OMIM/MTHU004325","http://purl.bioontology.org/ontology/OMIM/MTHU001649","http://purl.bioontology.org/ontology/OMIM/MTHU037248","http://purl.bioontology.org/ontology/OMIM/MTHU000623","http://purl.bioontology.org/ontology/OMIM/MTHU004196","http://purl.bioontology.org/ontology/OMIM/MTHU000328","http://purl.bioontology.org/ontology/OMIM/MTHU079097","http://purl.bioontology.org/ontology/OMIM/MTHU022100","http://purl.bioontology.org/ontology/OMIM/MTHU024633","http://purl.bioontology.org/ontology/OMIM/MTHU029828","http://purl.bioontology.org/ontology/OMIM/MTHU006401","http://purl.bioontology.org/ontology/OMIM/MTHU035590","http://purl.bioontology.org/ontology/OMIM/MTHU062039","http://purl.bioontology.org/ontology/OMIM/MTHU036658","http://purl.bioontology.org/ontology/OMIM/MTHU022101","http://purl.bioontology.org/ontology/OMIM/MTHU022102","http://purl.bioontology.org/ontology/OMIM/MTHU005259","http://purl.bioontology.org/ontology/OMIM/MTHU022104","http://purl.bioontology.org/ontology/OMIM/MTHU022097","http://purl.bioontology.org/ontology/OMIM/MTHU012782"],"http://bioportal.bioontology.org/ontologies/umls/tui":["T047"],"http://purl.bioontology.org/ontology/OMIM/GENELOCUS":["2p23"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEMEANING":["Phenotype description, molecular basis known."],"http://www.w3.org/2004/02/skos/core#notation":["620300"],"http://bioportal.bioontology.org/ontologies/umls/hasSTY":["http://purl.bioontology.org/ontology/STY/T047"],"http://purl.bioontology.org/ontology/OMIM/has_inheritance_type":["http://purl.bioontology.org/ontology/OMIM/MTHU000016"],"http://bioportal.bioontology.org/ontologies/umls/cui":["C5830693","C5830374"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPE":["3"],"http://www.w3.org/2004/02/skos/core#prefLabel":["MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 2"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEVALUE":["pound"]},"@id":"http://purl.bioontology.org/ontology/OMIM/620300","@type":"http://www.w3.org/2002/07/owl#Class","links":{"self":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F620300","ontology":"https://data.bioontology.org/ontologies/OMIM","children":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F620300/children","parents":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F620300/parents","descendants":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F620300/descendants","ancestors":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F620300/ancestors","instances":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F620300/instances","tree":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F620300/tree","notes":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F620300/notes","mappings":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F620300/mappings","ui":"http://bioportal.bioontology.org/ontologies/OMIM?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F620300","@context":{"self":"http://www.w3.org/2002/07/owl#Class","ontology":"http://data.bioontology.org/metadata/Ontology","children":"http://www.w3.org/2002/07/owl#Class","parents":"http://www.w3.org/2002/07/owl#Class","descendants":"http://www.w3.org/2002/07/owl#Class","ancestors":"http://www.w3.org/2002/07/owl#Class","instances":"http://data.bioontology.org/metadata/Instance","tree":"http://www.w3.org/2002/07/owl#Class","notes":"http://data.bioontology.org/metadata/Note","mappings":"http://data.bioontology.org/metadata/Mapping","ui":"http://www.w3.org/2002/07/owl#Class"}},"@context":{"@vocab":"http://data.bioontology.org/metadata/","label":"http://www.w3.org/2000/01/rdf-schema#label","prefLabel":"http://www.w3.org/2004/02/skos/core#prefLabel","prefLabelXl":"http://www.w3.org/2008/05/skos-xl#prefLabel","altLabelXl":"http://www.w3.org/2008/05/skos-xl#altLabel","hiddenLabelXl":"http://www.w3.org/2008/05/skos-xl#hiddenLabel","synonym":"http://www.w3.org/2004/02/skos/core#altLabel","definition":"http://www.w3.org/2004/02/skos/core#definition","obsolete":"http://www.w3.org/2002/07/owl#deprecated","notation":"http://www.w3.org/2004/02/skos/core#notation","prefixIRI":"http://data.bioontology.org/metadata/prefixIRI","parents":"http://www.w3.org/2000/01/rdf-schema##<Proc:0x00007fcf92237cd8 /opt/ontoportal/ontologies_api/shared/bundle/ruby/3.2.0/bundler/gems/ontologies_linked_data-2d215bcb1279/lib/ontologies_linked_data/models/class.rb:67 (lambda)>","subClassOf":"http://www.w3.org/2000/01/rdf-schema#subClassOf","semanticType":"http://bioportal.bioontology.org/ontologies/umls/hasSTY","cui":"http://bioportal.bioontology.org/ontologies/umls/cui","xref":"http://www.geneontology.org/formats/oboInOwl#hasDbXref","inScheme":"http://www.w3.org/2004/02/skos/core#inScheme","created":"http://purl.org/dc/terms/created","modified":"http://purl.org/dc/terms/modified","@language":[]}}