{"id":"http://purl.bioontology.org/ontology/OMIM/602875","synonym":["ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE","ST. HELENA DYSPLASIA","AMDM","AMD1"],"notation":"602875","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C1864356"],"prefLabel":"ACROMESOMELIC 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":["ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE","ST. HELENA DYSPLASIA","AMDM","AMD1"],"http://purl.bioontology.org/ontology/OMIM/GENESYMBOL":["ANPRB","NPR2","ECDM","SNSK","AMD1"],"http://purl.bioontology.org/ontology/OMIM/SOS":["Short limbs become more apparent during childhood [MISCELLANEOUS]","Caused by mutation in the natriuretic peptide receptor B gene (NPR2, 108961.0001) [MOLECULAR BASIS]","Disproportionately short limbs often noted at birth [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/MTHU004401","http://purl.bioontology.org/ontology/OMIM/MTHU005232","http://purl.bioontology.org/ontology/OMIM/MTHU005220","http://purl.bioontology.org/ontology/OMIM/MTHU005229","http://purl.bioontology.org/ontology/OMIM/MTHU005213","http://purl.bioontology.org/ontology/OMIM/MTHU005234","http://purl.bioontology.org/ontology/OMIM/MTHU000601","http://purl.bioontology.org/ontology/OMIM/MTHU005224","http://purl.bioontology.org/ontology/OMIM/MTHU005210","http://purl.bioontology.org/ontology/OMIM/MTHU001623","http://purl.bioontology.org/ontology/OMIM/MTHU005216","http://purl.bioontology.org/ontology/OMIM/MTHU005228","http://purl.bioontology.org/ontology/OMIM/MTHU000587","http://purl.bioontology.org/ontology/OMIM/MTHU005225","http://purl.bioontology.org/ontology/OMIM/MTHU001946","http://purl.bioontology.org/ontology/OMIM/MTHU005233","http://purl.bioontology.org/ontology/OMIM/MTHU005223","http://purl.bioontology.org/ontology/OMIM/MTHU000596","http://purl.bioontology.org/ontology/OMIM/MTHU005227","http://purl.bioontology.org/ontology/OMIM/MTHU005214","http://purl.bioontology.org/ontology/OMIM/MTHU001148","http://purl.bioontology.org/ontology/OMIM/MTHU000559","http://purl.bioontology.org/ontology/OMIM/MTHU005215","http://purl.bioontology.org/ontology/OMIM/MTHU000832","http://purl.bioontology.org/ontology/OMIM/MTHU005231","http://purl.bioontology.org/ontology/OMIM/MTHU005212","http://purl.bioontology.org/ontology/OMIM/MTHU005219","http://purl.bioontology.org/ontology/OMIM/MTHU005217","http://purl.bioontology.org/ontology/OMIM/MTHU000051","http://purl.bioontology.org/ontology/OMIM/MTHU005226","http://purl.bioontology.org/ontology/OMIM/MTHU005230","http://purl.bioontology.org/ontology/OMIM/MTHU005211","http://purl.bioontology.org/ontology/OMIM/MTHU000606","http://purl.bioontology.org/ontology/OMIM/MTHU005222","http://purl.bioontology.org/ontology/OMIM/MTHU005218","http://purl.bioontology.org/ontology/OMIM/MTHU005221"],"http://bioportal.bioontology.org/ontologies/umls/tui":["T047"],"http://purl.bioontology.org/ontology/OMIM/GENELOCUS":["9p21-p12"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEMEANING":["Phenotype description, molecular basis known."],"http://www.w3.org/2004/02/skos/core#notation":["602875"],"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":["C1864356"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPE":["3"],"http://www.w3.org/2004/02/skos/core#prefLabel":["ACROMESOMELIC DYSPLASIA 1"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEVALUE":["pound"]},"@id":"http://purl.bioontology.org/ontology/OMIM/602875","@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%2F602875","ontology":"https://data.bioontology.org/ontologies/OMIM","children":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F602875/children","parents":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F602875/parents","descendants":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F602875/descendants","ancestors":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F602875/ancestors","instances":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F602875/instances","tree":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F602875/tree","notes":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F602875/notes","mappings":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F602875/mappings","ui":"http://bioportal.bioontology.org/ontologies/OMIM?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F602875","@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:0x00007fa705585440 /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":[]}}