{"id":"http://purl.bioontology.org/ontology/OMIM/620185","synonym":["MVA6","ATELS2","POOR GROWTH, MICROCEPHALY, DYSMORPHIC FACIES, AND CARDIAC DEFECTS","MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 6"],"notation":"620185","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C5774282"],"prefLabel":"ATELIS SYNDROME 2","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":["MVA6","ATELS2","POOR GROWTH, MICROCEPHALY, DYSMORPHIC FACIES, AND CARDIAC DEFECTS","MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 6"],"http://purl.bioontology.org/ontology/OMIM/GENESYMBOL":["KIAA0594","SMC5L1","ATELS2","SMC5"],"http://purl.bioontology.org/ontology/OMIM/SOS":["Caused by mutation in the structural maintenance of chromosomes 5 gene (SMC5, 609386.0001) [MOLECULAR BASIS]","Early death may occur [MISCELLANEOUS]","Onset in infancy [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/MTHU012111","http://purl.bioontology.org/ontology/OMIM/MTHU076415","http://purl.bioontology.org/ontology/OMIM/MTHU001686","http://purl.bioontology.org/ontology/OMIM/MTHU003093","http://purl.bioontology.org/ontology/OMIM/MTHU007485","http://purl.bioontology.org/ontology/OMIM/MTHU002598","http://purl.bioontology.org/ontology/OMIM/MTHU046026","http://purl.bioontology.org/ontology/OMIM/MTHU059732","http://purl.bioontology.org/ontology/OMIM/MTHU004506","http://purl.bioontology.org/ontology/OMIM/MTHU024110","http://purl.bioontology.org/ontology/OMIM/MTHU000607","http://purl.bioontology.org/ontology/OMIM/MTHU000576","http://purl.bioontology.org/ontology/OMIM/MTHU076414","http://purl.bioontology.org/ontology/OMIM/MTHU076413","http://purl.bioontology.org/ontology/OMIM/MTHU001370","http://purl.bioontology.org/ontology/OMIM/MTHU000365","http://purl.bioontology.org/ontology/OMIM/MTHU000560","http://purl.bioontology.org/ontology/OMIM/MTHU000073","http://purl.bioontology.org/ontology/OMIM/MTHU007616","http://purl.bioontology.org/ontology/OMIM/MTHU036757","http://purl.bioontology.org/ontology/OMIM/MTHU013668","http://purl.bioontology.org/ontology/OMIM/MTHU076416","http://purl.bioontology.org/ontology/OMIM/MTHU002016","http://purl.bioontology.org/ontology/OMIM/MTHU006263","http://purl.bioontology.org/ontology/OMIM/MTHU000155","http://purl.bioontology.org/ontology/OMIM/MTHU034575","http://purl.bioontology.org/ontology/OMIM/MTHU019217","http://purl.bioontology.org/ontology/OMIM/MTHU049263","http://purl.bioontology.org/ontology/OMIM/MTHU000604","http://purl.bioontology.org/ontology/OMIM/MTHU069145","http://purl.bioontology.org/ontology/OMIM/MTHU038981","http://purl.bioontology.org/ontology/OMIM/MTHU004024","http://purl.bioontology.org/ontology/OMIM/MTHU054659","http://purl.bioontology.org/ontology/OMIM/MTHU059973","http://purl.bioontology.org/ontology/OMIM/MTHU000145","http://purl.bioontology.org/ontology/OMIM/MTHU000242","http://purl.bioontology.org/ontology/OMIM/MTHU002606"],"http://bioportal.bioontology.org/ontologies/umls/tui":["T047"],"http://purl.bioontology.org/ontology/OMIM/GENELOCUS":["9q21.11"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEMEANING":["Phenotype description, molecular basis known."],"http://www.w3.org/2004/02/skos/core#notation":["620185"],"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/MTHU000016"],"http://bioportal.bioontology.org/ontologies/umls/cui":["C5774282"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPE":["3"],"http://www.w3.org/2004/02/skos/core#prefLabel":["ATELIS SYNDROME 2"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEVALUE":["pound"]},"@id":"http://purl.bioontology.org/ontology/OMIM/620185","@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%2F620185","ontology":"https://data.bioontology.org/ontologies/OMIM","children":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F620185/children","parents":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F620185/parents","descendants":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F620185/descendants","ancestors":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F620185/ancestors","instances":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F620185/instances","tree":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F620185/tree","notes":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F620185/notes","mappings":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F620185/mappings","ui":"http://bioportal.bioontology.org/ontologies/OMIM?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F620185","@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:0x00007f771cfb6360 /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":[]}}