{"id":"http://purl.bioontology.org/ontology/OMIM/164280","synonym":["MICROCEPHALY, MENTAL RETARDATION, AND TRACHEOESOPHAGEAL FISTULA SYNDROME","MICROCEPHALY-OCULO-DIGITO-ESOPHAGEAL-DUODENAL SYNDROME","DIGITAL ANOMALIES WITH SHORT PALPEBRAL FISSURES AND ATRESIA OF ESOPHAGUS OR DUODENUM","MODED","OCULODIGITOESOPHAGODUODENAL SYNDROME","FGLDS1","MMT SYNDROME","FEINGOLD SYNDROME","ODED SYNDROME","MICROCEPHALY AND DIGITAL ABNORMALITIES WITH NORMAL INTELLIGENCE","ODED"],"notation":"164280","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C4551774","C0796068"],"prefLabel":"FEINGOLD 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":["MICROCEPHALY, MENTAL RETARDATION, AND TRACHEOESOPHAGEAL FISTULA SYNDROME","MICROCEPHALY-OCULO-DIGITO-ESOPHAGEAL-DUODENAL SYNDROME","DIGITAL ANOMALIES WITH SHORT PALPEBRAL FISSURES AND ATRESIA OF ESOPHAGUS OR DUODENUM","MODED","OCULODIGITOESOPHAGODUODENAL SYNDROME","FGLDS1","MMT SYNDROME","FEINGOLD SYNDROME","ODED SYNDROME","MICROCEPHALY AND DIGITAL ABNORMALITIES WITH NORMAL INTELLIGENCE","ODED"],"http://purl.bioontology.org/ontology/OMIM/GENESYMBOL":["NMYC","MYCN","MPAPA","FGLDS1"],"http://purl.bioontology.org/ontology/OMIM/SOS":["Caused by mutations in the neuroblastoma-derived V-myc avian myelocytomatosis viral-related oncogene (MYCN, 164840.0001) [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/MTHU016586","http://purl.bioontology.org/ontology/OMIM/MTHU005109","http://purl.bioontology.org/ontology/OMIM/MTHU000229","http://purl.bioontology.org/ontology/OMIM/MTHU016587","http://purl.bioontology.org/ontology/OMIM/MTHU036340","http://purl.bioontology.org/ontology/OMIM/MTHU004212","http://purl.bioontology.org/ontology/OMIM/MTHU000576","http://purl.bioontology.org/ontology/OMIM/MTHU036869","http://purl.bioontology.org/ontology/OMIM/MTHU016582","http://purl.bioontology.org/ontology/OMIM/MTHU002002","http://purl.bioontology.org/ontology/OMIM/MTHU011564","http://purl.bioontology.org/ontology/OMIM/MTHU001158","http://purl.bioontology.org/ontology/OMIM/MTHU004211","http://purl.bioontology.org/ontology/OMIM/MTHU000512","http://purl.bioontology.org/ontology/OMIM/MTHU036357","http://purl.bioontology.org/ontology/OMIM/MTHU036353","http://purl.bioontology.org/ontology/OMIM/MTHU067317","http://purl.bioontology.org/ontology/OMIM/MTHU011853","http://purl.bioontology.org/ontology/OMIM/MTHU004837","http://purl.bioontology.org/ontology/OMIM/MTHU000832","http://purl.bioontology.org/ontology/OMIM/MTHU036439","http://purl.bioontology.org/ontology/OMIM/MTHU000133","http://purl.bioontology.org/ontology/OMIM/MTHU014120","http://purl.bioontology.org/ontology/OMIM/MTHU016583","http://purl.bioontology.org/ontology/OMIM/MTHU000574","http://purl.bioontology.org/ontology/OMIM/MTHU000324","http://purl.bioontology.org/ontology/OMIM/MTHU009578","http://purl.bioontology.org/ontology/OMIM/MTHU000264","http://purl.bioontology.org/ontology/OMIM/MTHU003095","http://purl.bioontology.org/ontology/OMIM/MTHU036821","http://purl.bioontology.org/ontology/OMIM/MTHU006807","http://purl.bioontology.org/ontology/OMIM/MTHU016585","http://purl.bioontology.org/ontology/OMIM/MTHU014952","http://purl.bioontology.org/ontology/OMIM/MTHU037032","http://purl.bioontology.org/ontology/OMIM/MTHU000094"],"http://bioportal.bioontology.org/ontologies/umls/tui":["T047"],"http://purl.bioontology.org/ontology/OMIM/GENELOCUS":["2p24.1"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEMEANING":["Phenotype description, molecular basis known."],"http://www.w3.org/2004/02/skos/core#notation":["164280"],"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":["C4551774","C0796068"],"http://purl.bioontology.org/ontology/OMIM/MOVED_FROM":["602585"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPE":["3"],"http://www.w3.org/2004/02/skos/core#prefLabel":["FEINGOLD SYNDROME 1"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEVALUE":["pound"]},"@id":"http://purl.bioontology.org/ontology/OMIM/164280","@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%2F164280","ontology":"https://data.bioontology.org/ontologies/OMIM","children":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F164280/children","parents":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F164280/parents","descendants":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F164280/descendants","ancestors":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F164280/ancestors","instances":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F164280/instances","tree":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F164280/tree","notes":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F164280/notes","mappings":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F164280/mappings","ui":"http://bioportal.bioontology.org/ontologies/OMIM?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F164280","@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:0x00007fcf92237cd8 /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":[]}}