{"id":"http://purl.bioontology.org/ontology/OMIM/209880","synonym":["CCHS","ONDINE-HIRSCHSPRUNG DISEASE","CCHS1","ONDINE CURSE, CONGENITAL","HADDAD SYNDROME","OHD","AUTONOMIC CONTROL, CONGENITAL FAILURE OF","CCHS WITH HIRSCHSPRUNG DISEASE"],"notation":"209880","semanticType":["http://purl.bioontology.org/ontology/STY/T047","http://purl.bioontology.org/ontology/STY/T019"],"cui":["C1275808","C5562075","C1859049"],"prefLabel":"CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 1","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":["CCHS","ONDINE-HIRSCHSPRUNG DISEASE","CCHS1","ONDINE CURSE, CONGENITAL","HADDAD SYNDROME","OHD","AUTONOMIC CONTROL, CONGENITAL FAILURE OF","CCHS WITH HIRSCHSPRUNG DISEASE"],"http://purl.bioontology.org/ontology/OMIM/GENESYMBOL":["PMX2B","NBLST2","NBPHOX","PHOX2B","CCHS"],"http://purl.bioontology.org/ontology/OMIM/SOS":["Hypoventilation occurs in the absence of primary neuromuscular, lung, or cardiac disease, or an identifiable brainstem lesion [MISCELLANEOUS]","Some patients have later onset of the disorder as young adults [MISCELLANEOUS]","Caused by mutation in the paired-like homeobox 2B gene (PHOX2B, 603851.0001) [MOLECULAR BASIS]","Onset usually at birth [MISCELLANEOUS]","Patients often have other clinical symptoms resulting from dysfunction of the autonomic nervous system [MISCELLANEOUS]","Worsening of symptoms during sleep [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/MTHU031699","http://purl.bioontology.org/ontology/OMIM/MTHU031694","http://purl.bioontology.org/ontology/OMIM/MTHU031711","http://purl.bioontology.org/ontology/OMIM/MTHU010646","http://purl.bioontology.org/ontology/OMIM/MTHU067493","http://purl.bioontology.org/ontology/OMIM/MTHU013400","http://purl.bioontology.org/ontology/OMIM/MTHU041736","http://purl.bioontology.org/ontology/OMIM/MTHU041739","http://purl.bioontology.org/ontology/OMIM/MTHU001907","http://purl.bioontology.org/ontology/OMIM/MTHU003463","http://purl.bioontology.org/ontology/OMIM/MTHU010647","http://purl.bioontology.org/ontology/OMIM/MTHU041734","http://purl.bioontology.org/ontology/OMIM/MTHU041737","http://purl.bioontology.org/ontology/OMIM/MTHU041738","http://purl.bioontology.org/ontology/OMIM/MTHU031696","http://purl.bioontology.org/ontology/OMIM/MTHU041735","http://purl.bioontology.org/ontology/OMIM/MTHU005946","http://purl.bioontology.org/ontology/OMIM/MTHU031698","http://purl.bioontology.org/ontology/OMIM/MTHU031700","http://purl.bioontology.org/ontology/OMIM/MTHU001330"],"http://bioportal.bioontology.org/ontologies/umls/tui":["T047","T019"],"http://purl.bioontology.org/ontology/OMIM/GENELOCUS":["4p12"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEMEANING":["Phenotype description, molecular basis known."],"http://www.w3.org/2004/02/skos/core#notation":["209880"],"http://bioportal.bioontology.org/ontologies/umls/hasSTY":["http://purl.bioontology.org/ontology/STY/T047","http://purl.bioontology.org/ontology/STY/T019"],"http://purl.bioontology.org/ontology/OMIM/has_inheritance_type":["http://purl.bioontology.org/ontology/OMIM/MTHU000018"],"http://bioportal.bioontology.org/ontologies/umls/cui":["C1275808","C5562075","C1859049"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPE":["3"],"http://www.w3.org/2004/02/skos/core#prefLabel":["CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 1"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEVALUE":["pound"]},"@id":"http://purl.bioontology.org/ontology/OMIM/209880","@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%2F209880","ontology":"https://data.bioontology.org/ontologies/OMIM","children":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F209880/children","parents":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F209880/parents","descendants":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F209880/descendants","ancestors":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F209880/ancestors","instances":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F209880/instances","tree":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F209880/tree","notes":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F209880/notes","mappings":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F209880/mappings","ui":"http://bioportal.bioontology.org/ontologies/OMIM?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F209880","@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":[]}}