{"id":"http://purl.bioontology.org/ontology/OMIM/115150","synonym":["CFC SYNDROME","CFC1","CFCS"],"notation":"115150","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C1275081"],"prefLabel":"CARDIOFACIOCUTANEOUS SYNDROME 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":["CFC SYNDROME","CFC1","CFCS"],"http://purl.bioontology.org/ontology/OMIM/GENESYMBOL":["NS7","BRAF"],"http://purl.bioontology.org/ontology/OMIM/SOS":["Caused by mutation in the B-Raf protooncogene, serine/threonine kinase, gene (BRAF, 164757.0012) [MOLECULAR BASIS]"],"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/MTHU056939","http://purl.bioontology.org/ontology/OMIM/MTHU067036","http://purl.bioontology.org/ontology/OMIM/MTHU000231","http://purl.bioontology.org/ontology/OMIM/MTHU036519","http://purl.bioontology.org/ontology/OMIM/MTHU000263","http://purl.bioontology.org/ontology/OMIM/MTHU001623","http://purl.bioontology.org/ontology/OMIM/MTHU000197","http://purl.bioontology.org/ontology/OMIM/MTHU002047","http://purl.bioontology.org/ontology/OMIM/MTHU000185","http://purl.bioontology.org/ontology/OMIM/MTHU001049","http://purl.bioontology.org/ontology/OMIM/MTHU067035","http://purl.bioontology.org/ontology/OMIM/MTHU001061","http://purl.bioontology.org/ontology/OMIM/MTHU000514","http://purl.bioontology.org/ontology/OMIM/MTHU024316","http://purl.bioontology.org/ontology/OMIM/MTHU007254","http://purl.bioontology.org/ontology/OMIM/MTHU004602","http://purl.bioontology.org/ontology/OMIM/MTHU000579","http://purl.bioontology.org/ontology/OMIM/MTHU036403","http://purl.bioontology.org/ontology/OMIM/MTHU013714","http://purl.bioontology.org/ontology/OMIM/MTHU000389","http://purl.bioontology.org/ontology/OMIM/MTHU000702","http://purl.bioontology.org/ontology/OMIM/MTHU005820","http://purl.bioontology.org/ontology/OMIM/MTHU006083","http://purl.bioontology.org/ontology/OMIM/MTHU000036","http://purl.bioontology.org/ontology/OMIM/MTHU009332","http://purl.bioontology.org/ontology/OMIM/MTHU000265","http://purl.bioontology.org/ontology/OMIM/MTHU036439","http://purl.bioontology.org/ontology/OMIM/MTHU010499","http://purl.bioontology.org/ontology/OMIM/MTHU001440","http://purl.bioontology.org/ontology/OMIM/MTHU036522","http://purl.bioontology.org/ontology/OMIM/MTHU002945","http://purl.bioontology.org/ontology/OMIM/MTHU000509","http://purl.bioontology.org/ontology/OMIM/MTHU000133","http://purl.bioontology.org/ontology/OMIM/MTHU036339","http://purl.bioontology.org/ontology/OMIM/MTHU036338","http://purl.bioontology.org/ontology/OMIM/MTHU003212","http://purl.bioontology.org/ontology/OMIM/MTHU000081","http://purl.bioontology.org/ontology/OMIM/MTHU000145","http://purl.bioontology.org/ontology/OMIM/MTHU002676","http://purl.bioontology.org/ontology/OMIM/MTHU000235","http://purl.bioontology.org/ontology/OMIM/MTHU000242","http://purl.bioontology.org/ontology/OMIM/MTHU000094"],"http://bioportal.bioontology.org/ontologies/umls/tui":["T047"],"http://purl.bioontology.org/ontology/OMIM/GENELOCUS":["7q34"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEMEANING":["Phenotype description, molecular basis known."],"http://www.w3.org/2004/02/skos/core#notation":["115150"],"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/MTHU000018"],"http://bioportal.bioontology.org/ontologies/umls/cui":["C1275081"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPE":["3"],"http://www.w3.org/2004/02/skos/core#prefLabel":["CARDIOFACIOCUTANEOUS SYNDROME 1"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEVALUE":["pound"]},"@id":"http://purl.bioontology.org/ontology/OMIM/115150","@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%2F115150","ontology":"https://data.bioontology.org/ontologies/OMIM","children":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F115150/children","parents":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F115150/parents","descendants":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F115150/descendants","ancestors":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F115150/ancestors","instances":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F115150/instances","tree":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F115150/tree","notes":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F115150/notes","mappings":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F115150/mappings","ui":"http://bioportal.bioontology.org/ontologies/OMIM?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F115150","@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:0x00007fa705585440 /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":[]}}