{"id":"http://purl.bioontology.org/ontology/OMIM/606631","synonym":["CAEND2"],"notation":"606631","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C2931683"],"prefLabel":"CAMURATI-ENGELMANN DISEASE, TYPE 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":["CAEND2"],"http://purl.bioontology.org/ontology/OMIM/SOS":["Waddling gait [MISCELLANEOUS]","Based on report of 2 unrelated patients [MISCELLANEOUS]","Painful limbs [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/MTHU020244","http://purl.bioontology.org/ontology/OMIM/MTHU058694","http://purl.bioontology.org/ontology/OMIM/MTHU058698","http://purl.bioontology.org/ontology/OMIM/MTHU058700","http://purl.bioontology.org/ontology/OMIM/MTHU058703","http://purl.bioontology.org/ontology/OMIM/MTHU058697","http://purl.bioontology.org/ontology/OMIM/MTHU058687","http://purl.bioontology.org/ontology/OMIM/MTHU058689","http://purl.bioontology.org/ontology/OMIM/MTHU058686","http://purl.bioontology.org/ontology/OMIM/MTHU058683","http://purl.bioontology.org/ontology/OMIM/MTHU058691","http://purl.bioontology.org/ontology/OMIM/MTHU058690","http://purl.bioontology.org/ontology/OMIM/MTHU058704","http://purl.bioontology.org/ontology/OMIM/MTHU037333","http://purl.bioontology.org/ontology/OMIM/MTHU058699","http://purl.bioontology.org/ontology/OMIM/MTHU058685","http://purl.bioontology.org/ontology/OMIM/MTHU058688","http://purl.bioontology.org/ontology/OMIM/MTHU058696","http://purl.bioontology.org/ontology/OMIM/MTHU014866","http://purl.bioontology.org/ontology/OMIM/MTHU052683","http://purl.bioontology.org/ontology/OMIM/MTHU058695","http://purl.bioontology.org/ontology/OMIM/MTHU058684","http://purl.bioontology.org/ontology/OMIM/MTHU001468","http://purl.bioontology.org/ontology/OMIM/MTHU007296","http://purl.bioontology.org/ontology/OMIM/MTHU058705","http://purl.bioontology.org/ontology/OMIM/MTHU004823","http://purl.bioontology.org/ontology/OMIM/MTHU058701","http://purl.bioontology.org/ontology/OMIM/MTHU058693","http://purl.bioontology.org/ontology/OMIM/MTHU058692","http://purl.bioontology.org/ontology/OMIM/MTHU058702"],"http://bioportal.bioontology.org/ontologies/umls/tui":["T047"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEMEANING":["Mendelian phenotype or locus, molecular basis unknown."],"http://www.w3.org/2004/02/skos/core#notation":["606631"],"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://bioportal.bioontology.org/ontologies/umls/cui":["C2931683"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPE":["5"],"http://www.w3.org/2004/02/skos/core#prefLabel":["CAMURATI-ENGELMANN DISEASE, TYPE 2"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEVALUE":["perc"]},"@id":"http://purl.bioontology.org/ontology/OMIM/606631","@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%2F606631","ontology":"https://data.bioontology.org/ontologies/OMIM","children":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F606631/children","parents":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F606631/parents","descendants":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F606631/descendants","ancestors":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F606631/ancestors","instances":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F606631/instances","tree":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F606631/tree","notes":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F606631/notes","mappings":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F606631/mappings","ui":"http://bioportal.bioontology.org/ontologies/OMIM?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F606631","@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":[]}}