{"id":"http://purl.bioontology.org/ontology/OMIM/607625","synonym":["NPC2"],"notation":"607625","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C1843366"],"prefLabel":"NIEMANN-PICK DISEASE, TYPE C2","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":["NPC2"],"http://purl.bioontology.org/ontology/OMIM/GENESYMBOL":["HE1","NPC2"],"http://purl.bioontology.org/ontology/OMIM/SOS":["Neurologic involvement may occur in the absence of visceral involvement [MISCELLANEOUS]","Genetic heterogeneity (see NPC1, 257220) [MISCELLANEOUS]","Caused by mutation in the NPC intracellular cholesterol transporter 2 gene (NPC2, 601015.0001) [MOLECULAR BASIS]","Early death from respiratory failure may occur [MISCELLANEOUS]","Highly variable phenotype and age of onset [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/MTHU001744","http://purl.bioontology.org/ontology/OMIM/MTHU000300","http://purl.bioontology.org/ontology/OMIM/MTHU000197","http://purl.bioontology.org/ontology/OMIM/MTHU003021","http://purl.bioontology.org/ontology/OMIM/MTHU003019","http://purl.bioontology.org/ontology/OMIM/MTHU003012","http://purl.bioontology.org/ontology/OMIM/MTHU000185","http://purl.bioontology.org/ontology/OMIM/MTHU000535","http://purl.bioontology.org/ontology/OMIM/MTHU003013","http://purl.bioontology.org/ontology/OMIM/MTHU000317","http://purl.bioontology.org/ontology/OMIM/MTHU000778","http://purl.bioontology.org/ontology/OMIM/MTHU003014","http://purl.bioontology.org/ontology/OMIM/MTHU003010","http://purl.bioontology.org/ontology/OMIM/MTHU000244","http://purl.bioontology.org/ontology/OMIM/MTHU003018","http://purl.bioontology.org/ontology/OMIM/MTHU036443","http://purl.bioontology.org/ontology/OMIM/MTHU000283","http://purl.bioontology.org/ontology/OMIM/MTHU003009","http://purl.bioontology.org/ontology/OMIM/MTHU000926","http://purl.bioontology.org/ontology/OMIM/MTHU002910","http://purl.bioontology.org/ontology/OMIM/MTHU003017","http://purl.bioontology.org/ontology/OMIM/MTHU003011","http://purl.bioontology.org/ontology/OMIM/MTHU003020","http://purl.bioontology.org/ontology/OMIM/MTHU036384","http://purl.bioontology.org/ontology/OMIM/MTHU036371","http://purl.bioontology.org/ontology/OMIM/MTHU003023","http://purl.bioontology.org/ontology/OMIM/MTHU003022","http://purl.bioontology.org/ontology/OMIM/MTHU003016","http://purl.bioontology.org/ontology/OMIM/MTHU003015","http://purl.bioontology.org/ontology/OMIM/MTHU000242","http://purl.bioontology.org/ontology/OMIM/MTHU003024"],"http://bioportal.bioontology.org/ontologies/umls/tui":["T047"],"http://purl.bioontology.org/ontology/OMIM/GENELOCUS":["14q24.3"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEMEANING":["Phenotype description, molecular basis known."],"http://www.w3.org/2004/02/skos/core#notation":["607625"],"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":["C1843366"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPE":["3"],"http://www.w3.org/2004/02/skos/core#prefLabel":["NIEMANN-PICK DISEASE, TYPE C2"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEVALUE":["pound"]},"@id":"http://purl.bioontology.org/ontology/OMIM/607625","@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%2F607625","ontology":"https://data.bioontology.org/ontologies/OMIM","children":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F607625/children","parents":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F607625/parents","descendants":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F607625/descendants","ancestors":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F607625/ancestors","instances":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F607625/instances","tree":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F607625/tree","notes":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F607625/notes","mappings":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F607625/mappings","ui":"http://bioportal.bioontology.org/ontologies/OMIM?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F607625","@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:0x00007f9470058690 /opt/ontoportal/ontologies_api/shared/bundle/ruby/3.2.0/bundler/gems/ontologies_linked_data-0083660248b7/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":[]}}