{"id":"http://purl.bioontology.org/ontology/OMIM/123790","synonym":["CUTIS GYRATA SYNDROME OF BEARE AND STEVENSON","BEARE-STEVENSON SYNDROME","BSTVS"],"notation":"123790","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C1852406"],"prefLabel":"BEARE-STEVENSON CUTIS GYRATA SYNDROME","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":["CUTIS GYRATA SYNDROME OF BEARE AND STEVENSON","BEARE-STEVENSON SYNDROME","BSTVS"],"http://purl.bioontology.org/ontology/OMIM/GENESYMBOL":["TK14","JWS","BEK","CFD1","FGFR2","BBDS"],"http://purl.bioontology.org/ontology/OMIM/SOS":["Increased paternal age [MISCELLANEOUS]","Reported cases all sporadic [MISCELLANEOUS]","Early death in patients with cloverleaf skull [MISCELLANEOUS]","Caused by mutation in the fibroblast growth factor receptor-2 gene (FGFR2, 176943.0015) [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/MTHU013662","http://purl.bioontology.org/ontology/OMIM/MTHU000061","http://purl.bioontology.org/ontology/OMIM/MTHU000263","http://purl.bioontology.org/ontology/OMIM/MTHU014693","http://purl.bioontology.org/ontology/OMIM/MTHU002205","http://purl.bioontology.org/ontology/OMIM/MTHU000185","http://purl.bioontology.org/ontology/OMIM/MTHU003499","http://purl.bioontology.org/ontology/OMIM/MTHU001649","http://purl.bioontology.org/ontology/OMIM/MTHU002499","http://purl.bioontology.org/ontology/OMIM/MTHU018767","http://purl.bioontology.org/ontology/OMIM/MTHU018771","http://purl.bioontology.org/ontology/OMIM/MTHU018768","http://purl.bioontology.org/ontology/OMIM/MTHU001627","http://purl.bioontology.org/ontology/OMIM/MTHU000259","http://purl.bioontology.org/ontology/OMIM/MTHU000579","http://purl.bioontology.org/ontology/OMIM/MTHU041222","http://purl.bioontology.org/ontology/OMIM/MTHU000559","http://purl.bioontology.org/ontology/OMIM/MTHU002092","http://purl.bioontology.org/ontology/OMIM/MTHU004139","http://purl.bioontology.org/ontology/OMIM/MTHU036653","http://purl.bioontology.org/ontology/OMIM/MTHU018769","http://purl.bioontology.org/ontology/OMIM/MTHU018770","http://purl.bioontology.org/ontology/OMIM/MTHU012780","http://purl.bioontology.org/ontology/OMIM/MTHU041223","http://purl.bioontology.org/ontology/OMIM/MTHU003772","http://purl.bioontology.org/ontology/OMIM/MTHU041221","http://purl.bioontology.org/ontology/OMIM/MTHU001173"],"http://bioportal.bioontology.org/ontologies/umls/tui":["T047"],"http://purl.bioontology.org/ontology/OMIM/GENELOCUS":["10q26"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEMEANING":["Phenotype description, molecular basis known."],"http://www.w3.org/2004/02/skos/core#notation":["123790"],"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":["C1852406"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPE":["3"],"http://www.w3.org/2004/02/skos/core#prefLabel":["BEARE-STEVENSON CUTIS GYRATA SYNDROME"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEVALUE":["pound"]},"@id":"http://purl.bioontology.org/ontology/OMIM/123790","@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%2F123790","ontology":"https://data.bioontology.org/ontologies/OMIM","children":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F123790/children","parents":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F123790/parents","descendants":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F123790/descendants","ancestors":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F123790/ancestors","instances":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F123790/instances","tree":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F123790/tree","notes":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F123790/notes","mappings":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F123790/mappings","ui":"http://bioportal.bioontology.org/ontologies/OMIM?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F123790","@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:0x00007f453dc33af0 /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":[]}}