{"id":"http://purl.bioontology.org/ontology/OMIM/305620","synonym":["FMD","FMD1"],"notation":"305620","semanticType":["http://purl.bioontology.org/ontology/STY/T019"],"cui":["C4281559"],"prefLabel":"FRONTOMETAPHYSEAL DYSPLASIA 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":["FMD","FMD1"],"http://purl.bioontology.org/ontology/OMIM/GENESYMBOL":["CSBS","FLNA","OPD1","NHBP","CVD1","FLN1","FGS2","FMD","OPD2","MNS"],"http://purl.bioontology.org/ontology/OMIM/SOS":["Melnick-Needles syndrome (MNS, 309350) is an allelic disorder [MISCELLANEOUS]","Caused by mutation in the filamin A gene (FLNA, 300017.0011) [MOLECULAR BASIS]","Periventricular heterotopia (300049) is an allelic disorder [MISCELLANEOUS]","Otopalatodigital syndrome type II (OPD2, 304120) is an allelic disorder [MISCELLANEOUS]","Variable expression in females Otopalatodigital syndrome type I (OPD1, 311300) is an allelic disorder [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/MTHU007618","http://purl.bioontology.org/ontology/OMIM/MTHU036368","http://purl.bioontology.org/ontology/OMIM/MTHU007635","http://purl.bioontology.org/ontology/OMIM/MTHU007619","http://purl.bioontology.org/ontology/OMIM/MTHU007611","http://purl.bioontology.org/ontology/OMIM/MTHU007617","http://purl.bioontology.org/ontology/OMIM/MTHU000263","http://purl.bioontology.org/ontology/OMIM/MTHU007636","http://purl.bioontology.org/ontology/OMIM/MTHU007624","http://purl.bioontology.org/ontology/OMIM/MTHU042375","http://purl.bioontology.org/ontology/OMIM/MTHU006809","http://purl.bioontology.org/ontology/OMIM/MTHU007632","http://purl.bioontology.org/ontology/OMIM/MTHU007621","http://purl.bioontology.org/ontology/OMIM/MTHU020345","http://purl.bioontology.org/ontology/OMIM/MTHU006236","http://purl.bioontology.org/ontology/OMIM/MTHU001361","http://purl.bioontology.org/ontology/OMIM/MTHU007622","http://purl.bioontology.org/ontology/OMIM/MTHU007614","http://purl.bioontology.org/ontology/OMIM/MTHU007615","http://purl.bioontology.org/ontology/OMIM/MTHU007610","http://purl.bioontology.org/ontology/OMIM/MTHU000579","http://purl.bioontology.org/ontology/OMIM/MTHU007627","http://purl.bioontology.org/ontology/OMIM/MTHU001511","http://purl.bioontology.org/ontology/OMIM/MTHU007613","http://purl.bioontology.org/ontology/OMIM/MTHU042376","http://purl.bioontology.org/ontology/OMIM/MTHU007626","http://purl.bioontology.org/ontology/OMIM/MTHU001151","http://purl.bioontology.org/ontology/OMIM/MTHU007616","http://purl.bioontology.org/ontology/OMIM/MTHU002089","http://purl.bioontology.org/ontology/OMIM/MTHU007623","http://purl.bioontology.org/ontology/OMIM/MTHU000036","http://purl.bioontology.org/ontology/OMIM/MTHU001611","http://purl.bioontology.org/ontology/OMIM/MTHU006492","http://purl.bioontology.org/ontology/OMIM/MTHU000133","http://purl.bioontology.org/ontology/OMIM/MTHU007628","http://purl.bioontology.org/ontology/OMIM/MTHU002202","http://purl.bioontology.org/ontology/OMIM/MTHU007631","http://purl.bioontology.org/ontology/OMIM/MTHU007630","http://purl.bioontology.org/ontology/OMIM/MTHU001468","http://purl.bioontology.org/ontology/OMIM/MTHU007629","http://purl.bioontology.org/ontology/OMIM/MTHU000260","http://purl.bioontology.org/ontology/OMIM/MTHU007625","http://purl.bioontology.org/ontology/OMIM/MTHU007612","http://purl.bioontology.org/ontology/OMIM/MTHU007620","http://purl.bioontology.org/ontology/OMIM/MTHU007637"],"http://bioportal.bioontology.org/ontologies/umls/tui":["T019"],"http://purl.bioontology.org/ontology/OMIM/GENELOCUS":["Xq28"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEMEANING":["Phenotype description, molecular basis known."],"http://www.w3.org/2004/02/skos/core#notation":["305620"],"http://bioportal.bioontology.org/ontologies/umls/hasSTY":["http://purl.bioontology.org/ontology/STY/T019"],"http://purl.bioontology.org/ontology/OMIM/has_inheritance_type":["http://purl.bioontology.org/ontology/OMIM/MTHU006805"],"http://bioportal.bioontology.org/ontologies/umls/cui":["C4281559"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPE":["3"],"http://www.w3.org/2004/02/skos/core#prefLabel":["FRONTOMETAPHYSEAL DYSPLASIA 1"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEVALUE":["pound"]},"@id":"http://purl.bioontology.org/ontology/OMIM/305620","@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%2F305620","ontology":"https://data.bioontology.org/ontologies/OMIM","children":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F305620/children","parents":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F305620/parents","descendants":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F305620/descendants","ancestors":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F305620/ancestors","instances":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F305620/instances","tree":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F305620/tree","notes":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F305620/notes","mappings":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F305620/mappings","ui":"http://bioportal.bioontology.org/ontologies/OMIM?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F305620","@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:0x00007f76cfcfc090 /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":[]}}