{"id":"http://purl.bioontology.org/ontology/OMIM/254090","synonym":["UCMD1A/1B, DIGENIC","ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A/1B, DIGENIC","UCMD1A","ULLRICH CONGENITAL MUSCULAR DYSTROPHY","UCMD","ULLRICH SCLEROATONIC MUSCULAR DYSTROPHY","MUSCULAR DYSTROPHY, SCLEROATONIC","ULLRICH DISEASE"],"notation":"254090","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C0410179","C5935566"],"prefLabel":"ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A","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":["UCMD1A/1B, DIGENIC","ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A/1B, DIGENIC","UCMD1A","ULLRICH CONGENITAL MUSCULAR DYSTROPHY","UCMD","ULLRICH SCLEROATONIC MUSCULAR DYSTROPHY","MUSCULAR DYSTROPHY, SCLEROATONIC","ULLRICH DISEASE"],"http://purl.bioontology.org/ontology/OMIM/GENESYMBOL":["UCHMD1A","BTHLM1A","COL6A1"],"http://purl.bioontology.org/ontology/OMIM/SOS":["Caused by mutation in the collagen VI, alpha-1 polypeptide gene (COL6A1, 120220.0007) [MOLECULAR BASIS]","Onset in infancy [MISCELLANEOUS]","Variable severity [MISCELLANEOUS]","A subset of patients have heterozygous mutations consistent with a dominant-negative effect [MISCELLANEOUS]","Progressive 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/MTHU000682","http://purl.bioontology.org/ontology/OMIM/MTHU023980","http://purl.bioontology.org/ontology/OMIM/MTHU011016","http://purl.bioontology.org/ontology/OMIM/MTHU011013","http://purl.bioontology.org/ontology/OMIM/MTHU000379","http://purl.bioontology.org/ontology/OMIM/MTHU011015","http://purl.bioontology.org/ontology/OMIM/MTHU011008","http://purl.bioontology.org/ontology/OMIM/MTHU048758","http://purl.bioontology.org/ontology/OMIM/MTHU001946","http://purl.bioontology.org/ontology/OMIM/MTHU032438","http://purl.bioontology.org/ontology/OMIM/MTHU011001","http://purl.bioontology.org/ontology/OMIM/MTHU011014","http://purl.bioontology.org/ontology/OMIM/MTHU000512","http://purl.bioontology.org/ontology/OMIM/MTHU011010","http://purl.bioontology.org/ontology/OMIM/MTHU000958","http://purl.bioontology.org/ontology/OMIM/MTHU011006","http://purl.bioontology.org/ontology/OMIM/MTHU000381","http://purl.bioontology.org/ontology/OMIM/MTHU002917","http://purl.bioontology.org/ontology/OMIM/MTHU042078","http://purl.bioontology.org/ontology/OMIM/MTHU000749","http://purl.bioontology.org/ontology/OMIM/MTHU001153","http://purl.bioontology.org/ontology/OMIM/MTHU000681","http://purl.bioontology.org/ontology/OMIM/MTHU000036","http://purl.bioontology.org/ontology/OMIM/MTHU011005","http://purl.bioontology.org/ontology/OMIM/MTHU011007","http://purl.bioontology.org/ontology/OMIM/MTHU000577","http://purl.bioontology.org/ontology/OMIM/MTHU011000","http://purl.bioontology.org/ontology/OMIM/MTHU010755","http://purl.bioontology.org/ontology/OMIM/MTHU005669","http://purl.bioontology.org/ontology/OMIM/MTHU011009","http://purl.bioontology.org/ontology/OMIM/MTHU026018","http://purl.bioontology.org/ontology/OMIM/MTHU001598","http://purl.bioontology.org/ontology/OMIM/MTHU003173","http://purl.bioontology.org/ontology/OMIM/MTHU001721","http://purl.bioontology.org/ontology/OMIM/MTHU036440","http://purl.bioontology.org/ontology/OMIM/MTHU026017","http://purl.bioontology.org/ontology/OMIM/MTHU000081","http://purl.bioontology.org/ontology/OMIM/MTHU010735","http://purl.bioontology.org/ontology/OMIM/MTHU011011","http://purl.bioontology.org/ontology/OMIM/MTHU021643","http://purl.bioontology.org/ontology/OMIM/MTHU078219","http://purl.bioontology.org/ontology/OMIM/MTHU011003","http://purl.bioontology.org/ontology/OMIM/MTHU042079","http://purl.bioontology.org/ontology/OMIM/MTHU011012"],"http://bioportal.bioontology.org/ontologies/umls/tui":["T047"],"http://purl.bioontology.org/ontology/OMIM/GENELOCUS":["21q22.3"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEMEANING":["Phenotype description, molecular basis known."],"http://www.w3.org/2004/02/skos/core#notation":["254090"],"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/MTHU000018","http://purl.bioontology.org/ontology/OMIM/MTHU000016"],"http://bioportal.bioontology.org/ontologies/umls/cui":["C0410179","C5935566"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPE":["3"],"http://www.w3.org/2004/02/skos/core#prefLabel":["ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEVALUE":["pound"]},"@id":"http://purl.bioontology.org/ontology/OMIM/254090","@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%2F254090","ontology":"https://data.bioontology.org/ontologies/OMIM","children":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F254090/children","parents":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F254090/parents","descendants":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F254090/descendants","ancestors":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F254090/ancestors","instances":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F254090/instances","tree":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F254090/tree","notes":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F254090/notes","mappings":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F254090/mappings","ui":"http://bioportal.bioontology.org/ontologies/OMIM?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F254090","@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:0x00007f8d4ca9cf78 /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":[]}}