{"id":"http://purl.bioontology.org/ontology/OMIM/618089","synonym":["IDDFBA"],"notation":"618089","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C4748135"],"prefLabel":"INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES","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":["IDDFBA"],"http://purl.bioontology.org/ontology/OMIM/GENESYMBOL":["FBX11","PRMT9","VIT1","FBXO11","IDDFBA"],"http://purl.bioontology.org/ontology/OMIM/SOS":["Variable severity [MISCELLANEOUS]","De novo mutation [MISCELLANEOUS]","Caused by mutation in the F-box only protein 11 gene (FBXO11, 607871.0001) [MOLECULAR BASIS]","Onset in infancy or first years of life [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/MTHU000231","http://purl.bioontology.org/ontology/OMIM/MTHU000263","http://purl.bioontology.org/ontology/OMIM/MTHU000691","http://purl.bioontology.org/ontology/OMIM/MTHU050641","http://purl.bioontology.org/ontology/OMIM/MTHU000506","http://purl.bioontology.org/ontology/OMIM/MTHU000197","http://purl.bioontology.org/ontology/OMIM/MTHU004213","http://purl.bioontology.org/ontology/OMIM/MTHU000247","http://purl.bioontology.org/ontology/OMIM/MTHU003365","http://purl.bioontology.org/ontology/OMIM/MTHU002677","http://purl.bioontology.org/ontology/OMIM/MTHU008495","http://purl.bioontology.org/ontology/OMIM/MTHU036357","http://purl.bioontology.org/ontology/OMIM/MTHU000579","http://purl.bioontology.org/ontology/OMIM/MTHU003105","http://purl.bioontology.org/ontology/OMIM/MTHU000560","http://purl.bioontology.org/ontology/OMIM/MTHU060738","http://purl.bioontology.org/ontology/OMIM/MTHU037442","http://purl.bioontology.org/ontology/OMIM/MTHU000267","http://purl.bioontology.org/ontology/OMIM/MTHU033525","http://purl.bioontology.org/ontology/OMIM/MTHU000389","http://purl.bioontology.org/ontology/OMIM/MTHU002016","http://purl.bioontology.org/ontology/OMIM/MTHU000939","http://purl.bioontology.org/ontology/OMIM/MTHU000575","http://purl.bioontology.org/ontology/OMIM/MTHU000554","http://purl.bioontology.org/ontology/OMIM/MTHU000074","http://purl.bioontology.org/ontology/OMIM/MTHU000710","http://purl.bioontology.org/ontology/OMIM/MTHU003493","http://purl.bioontology.org/ontology/OMIM/MTHU003860","http://purl.bioontology.org/ontology/OMIM/MTHU001753","http://purl.bioontology.org/ontology/OMIM/MTHU062322","http://purl.bioontology.org/ontology/OMIM/MTHU001787","http://purl.bioontology.org/ontology/OMIM/MTHU036450","http://purl.bioontology.org/ontology/OMIM/MTHU032275","http://purl.bioontology.org/ontology/OMIM/MTHU037031","http://purl.bioontology.org/ontology/OMIM/MTHU062323","http://purl.bioontology.org/ontology/OMIM/MTHU000145","http://purl.bioontology.org/ontology/OMIM/MTHU005738","http://purl.bioontology.org/ontology/OMIM/MTHU000242"],"http://bioportal.bioontology.org/ontologies/umls/tui":["T047"],"http://purl.bioontology.org/ontology/OMIM/GENELOCUS":["2p21"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEMEANING":["Phenotype description, molecular basis known."],"http://www.w3.org/2004/02/skos/core#notation":["618089"],"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":["C4748135"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPE":["3"],"http://www.w3.org/2004/02/skos/core#prefLabel":["INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEVALUE":["pound"]},"@id":"http://purl.bioontology.org/ontology/OMIM/618089","@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%2F618089","ontology":"https://data.bioontology.org/ontologies/OMIM","children":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F618089/children","parents":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F618089/parents","descendants":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F618089/descendants","ancestors":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F618089/ancestors","instances":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F618089/instances","tree":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F618089/tree","notes":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F618089/notes","mappings":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F618089/mappings","ui":"http://bioportal.bioontology.org/ontologies/OMIM?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F618089","@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:0x00007fbd5ffec6e8 /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":[]}}