{"id":"http://purl.bioontology.org/ontology/OMIM/102370","synonym":["ACMICD"],"notation":"102370","semanticType":["http://purl.bioontology.org/ontology/STY/T019"],"cui":["C0265287"],"prefLabel":"ACROMICRIC DYSPLASIA","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":["ACMICD"],"http://purl.bioontology.org/ontology/OMIM/GENESYMBOL":["FBN1","SSKS","ECTOL1","MFS1","GPHYSD2","MFLS","ACMICD","WMS2"],"http://purl.bioontology.org/ontology/OMIM/SOS":["Caused by mutation in the fibrillin 1 gene (FBN1, 134797.0055) [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/MTHU030601","http://purl.bioontology.org/ontology/OMIM/MTHU001355","http://purl.bioontology.org/ontology/OMIM/MTHU000601","http://purl.bioontology.org/ontology/OMIM/MTHU030595","http://purl.bioontology.org/ontology/OMIM/MTHU004213","http://purl.bioontology.org/ontology/OMIM/MTHU030600","http://purl.bioontology.org/ontology/OMIM/MTHU002002","http://purl.bioontology.org/ontology/OMIM/MTHU030598","http://purl.bioontology.org/ontology/OMIM/MTHU030597","http://purl.bioontology.org/ontology/OMIM/MTHU001789","http://purl.bioontology.org/ontology/OMIM/MTHU030596","http://purl.bioontology.org/ontology/OMIM/MTHU001626","http://purl.bioontology.org/ontology/OMIM/MTHU012775","http://purl.bioontology.org/ontology/OMIM/MTHU003184","http://purl.bioontology.org/ontology/OMIM/MTHU002016","http://purl.bioontology.org/ontology/OMIM/MTHU000602","http://purl.bioontology.org/ontology/OMIM/MTHU030602","http://purl.bioontology.org/ontology/OMIM/MTHU005669","http://purl.bioontology.org/ontology/OMIM/MTHU000575","http://purl.bioontology.org/ontology/OMIM/MTHU001062","http://purl.bioontology.org/ontology/OMIM/MTHU008529","http://purl.bioontology.org/ontology/OMIM/MTHU002799","http://purl.bioontology.org/ontology/OMIM/MTHU030605","http://purl.bioontology.org/ontology/OMIM/MTHU036364","http://purl.bioontology.org/ontology/OMIM/MTHU030594","http://purl.bioontology.org/ontology/OMIM/MTHU030599"],"http://bioportal.bioontology.org/ontologies/umls/tui":["T019"],"http://purl.bioontology.org/ontology/OMIM/GENELOCUS":["15q21.1"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEMEANING":["Phenotype description, molecular basis known."],"http://www.w3.org/2004/02/skos/core#notation":["102370"],"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/MTHU000018"],"http://bioportal.bioontology.org/ontologies/umls/cui":["C0265287"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPE":["3"],"http://www.w3.org/2004/02/skos/core#prefLabel":["ACROMICRIC DYSPLASIA"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEVALUE":["pound"]},"@id":"http://purl.bioontology.org/ontology/OMIM/102370","@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%2F102370","ontology":"https://data.bioontology.org/ontologies/OMIM","children":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F102370/children","parents":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F102370/parents","descendants":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F102370/descendants","ancestors":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F102370/ancestors","instances":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F102370/instances","tree":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F102370/tree","notes":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F102370/notes","mappings":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F102370/mappings","ui":"http://bioportal.bioontology.org/ontologies/OMIM?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F102370","@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":[]}}