{"id":"http://purl.bioontology.org/ontology/OMIM/268300","synonym":["ROBERTS SYNDROME","SC PSEUDOTHALIDOMIDE SYNDROME","SC PHOCOMELIA SYNDROME","LONG BONE DEFICIENCIES ASSOCIATED WITH CLEFT LIP-PALATE","RBS"],"notation":"268300","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C0392475"],"prefLabel":"ROBERTS-SC PHOCOMELIA 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":["ROBERTS SYNDROME","SC PSEUDOTHALIDOMIDE SYNDROME","SC PHOCOMELIA SYNDROME","LONG BONE DEFICIENCIES ASSOCIATED WITH CLEFT LIP-PALATE","RBS"],"http://purl.bioontology.org/ontology/OMIM/GENESYMBOL":["JHS","RBS","ESCO2"],"http://purl.bioontology.org/ontology/OMIM/SOS":["Polyhydramnios [MISCELLANEOUS]","Caused by mutation in the establishment of sister chromatid cohesion N-acetyltransferase 2 gene (ESCO2, 609353.0001) [MOLECULAR BASIS]","Presence of severe midfacial and limb defects and birth length less than 37cm associated with stillborn or early infant death [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/MTHU036799","http://purl.bioontology.org/ontology/OMIM/MTHU009628","http://purl.bioontology.org/ontology/OMIM/MTHU000511","http://purl.bioontology.org/ontology/OMIM/MTHU001150","http://purl.bioontology.org/ontology/OMIM/MTHU003459","http://purl.bioontology.org/ontology/OMIM/MTHU009647","http://purl.bioontology.org/ontology/OMIM/MTHU009649","http://purl.bioontology.org/ontology/OMIM/MTHU000263","http://purl.bioontology.org/ontology/OMIM/MTHU009645","http://purl.bioontology.org/ontology/OMIM/MTHU036340","http://purl.bioontology.org/ontology/OMIM/MTHU009632","http://purl.bioontology.org/ontology/OMIM/MTHU009643","http://purl.bioontology.org/ontology/OMIM/MTHU009629","http://purl.bioontology.org/ontology/OMIM/MTHU004637","http://purl.bioontology.org/ontology/OMIM/MTHU002047","http://purl.bioontology.org/ontology/OMIM/MTHU000576","http://purl.bioontology.org/ontology/OMIM/MTHU002205","http://purl.bioontology.org/ontology/OMIM/MTHU000054","http://purl.bioontology.org/ontology/OMIM/MTHU002029","http://purl.bioontology.org/ontology/OMIM/MTHU004571","http://purl.bioontology.org/ontology/OMIM/MTHU009572","http://purl.bioontology.org/ontology/OMIM/MTHU009625","http://purl.bioontology.org/ontology/OMIM/MTHU009634","http://purl.bioontology.org/ontology/OMIM/MTHU009644","http://purl.bioontology.org/ontology/OMIM/MTHU005786","http://purl.bioontology.org/ontology/OMIM/MTHU001158","http://purl.bioontology.org/ontology/OMIM/MTHU000514","http://purl.bioontology.org/ontology/OMIM/MTHU002499","http://purl.bioontology.org/ontology/OMIM/MTHU009648","http://purl.bioontology.org/ontology/OMIM/MTHU009652","http://purl.bioontology.org/ontology/OMIM/MTHU009640","http://purl.bioontology.org/ontology/OMIM/MTHU009220","http://purl.bioontology.org/ontology/OMIM/MTHU000512","http://purl.bioontology.org/ontology/OMIM/MTHU036357","http://purl.bioontology.org/ontology/OMIM/MTHU009627","http://purl.bioontology.org/ontology/OMIM/MTHU009651","http://purl.bioontology.org/ontology/OMIM/MTHU000579","http://purl.bioontology.org/ontology/OMIM/MTHU000560","http://purl.bioontology.org/ontology/OMIM/MTHU036342","http://purl.bioontology.org/ontology/OMIM/MTHU009624","http://purl.bioontology.org/ontology/OMIM/MTHU000073","http://purl.bioontology.org/ontology/OMIM/MTHU000088","http://purl.bioontology.org/ontology/OMIM/MTHU009637","http://purl.bioontology.org/ontology/OMIM/MTHU000261","http://purl.bioontology.org/ontology/OMIM/MTHU009630","http://purl.bioontology.org/ontology/OMIM/MTHU036337","http://purl.bioontology.org/ontology/OMIM/MTHU009633","http://purl.bioontology.org/ontology/OMIM/MTHU036343","http://purl.bioontology.org/ontology/OMIM/MTHU036365","http://purl.bioontology.org/ontology/OMIM/MTHU009638","http://purl.bioontology.org/ontology/OMIM/MTHU009639","http://purl.bioontology.org/ontology/OMIM/MTHU009635","http://purl.bioontology.org/ontology/OMIM/MTHU009636","http://purl.bioontology.org/ontology/OMIM/MTHU032609","http://purl.bioontology.org/ontology/OMIM/MTHU000133","http://purl.bioontology.org/ontology/OMIM/MTHU005627","http://purl.bioontology.org/ontology/OMIM/MTHU009650","http://purl.bioontology.org/ontology/OMIM/MTHU036339","http://purl.bioontology.org/ontology/OMIM/MTHU005346","http://purl.bioontology.org/ontology/OMIM/MTHU036338","http://purl.bioontology.org/ontology/OMIM/MTHU005516","http://purl.bioontology.org/ontology/OMIM/MTHU000066","http://purl.bioontology.org/ontology/OMIM/MTHU037938","http://purl.bioontology.org/ontology/OMIM/MTHU032610","http://purl.bioontology.org/ontology/OMIM/MTHU009626","http://purl.bioontology.org/ontology/OMIM/MTHU009646","http://purl.bioontology.org/ontology/OMIM/MTHU009631","http://purl.bioontology.org/ontology/OMIM/MTHU004087","http://purl.bioontology.org/ontology/OMIM/MTHU009641","http://purl.bioontology.org/ontology/OMIM/MTHU009642"],"http://bioportal.bioontology.org/ontologies/umls/tui":["T047"],"http://purl.bioontology.org/ontology/OMIM/GENELOCUS":["8p21.1"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEMEANING":["Phenotype description, molecular basis known."],"http://www.w3.org/2004/02/skos/core#notation":["268300"],"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":["C0392475"],"http://purl.bioontology.org/ontology/OMIM/MOVED_FROM":["269000"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPE":["3"],"http://www.w3.org/2004/02/skos/core#prefLabel":["ROBERTS-SC PHOCOMELIA SYNDROME"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEVALUE":["pound"]},"@id":"http://purl.bioontology.org/ontology/OMIM/268300","@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%2F268300","ontology":"https://data.bioontology.org/ontologies/OMIM","children":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F268300/children","parents":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F268300/parents","descendants":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F268300/descendants","ancestors":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F268300/ancestors","instances":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F268300/instances","tree":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F268300/tree","notes":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F268300/notes","mappings":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F268300/mappings","ui":"http://bioportal.bioontology.org/ontologies/OMIM?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F268300","@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":[]}}