{"id":"http://purl.bioontology.org/ontology/OMIM/108145","synonym":["DAIIB","ARTHROGRYPOSIS, DISTAL, TYPE IIB","DA5","OCULOMELIC AMYOPLASIA","ARTHROGRYPOSIS WITH OCULOMOTOR LIMITATION AND ELECTRORETINAL ABNORMALITIES"],"notation":"108145","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C1862472"],"prefLabel":"ARTHROGRYPOSIS, DISTAL, TYPE 5","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":["DAIIB","ARTHROGRYPOSIS, DISTAL, TYPE IIB","DA5","OCULOMELIC AMYOPLASIA","ARTHROGRYPOSIS WITH OCULOMOTOR LIMITATION AND ELECTRORETINAL ABNORMALITIES"],"http://purl.bioontology.org/ontology/OMIM/GENESYMBOL":["DA3","MWKS","PIEZO2","FAM38B","DA5","DAIPT"],"http://purl.bioontology.org/ontology/OMIM/SOS":["Caused by mutation in the PIEZO-type mechanosensitive ion channel component 2 gene (PIEZO2, 613629.0001) [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/MTHU067014","http://purl.bioontology.org/ontology/OMIM/MTHU000229","http://purl.bioontology.org/ontology/OMIM/MTHU067013","http://purl.bioontology.org/ontology/OMIM/MTHU000191","http://purl.bioontology.org/ontology/OMIM/MTHU019419","http://purl.bioontology.org/ontology/OMIM/MTHU007977","http://purl.bioontology.org/ontology/OMIM/MTHU019420","http://purl.bioontology.org/ontology/OMIM/MTHU007830","http://purl.bioontology.org/ontology/OMIM/MTHU002677","http://purl.bioontology.org/ontology/OMIM/MTHU019424","http://purl.bioontology.org/ontology/OMIM/MTHU001946","http://purl.bioontology.org/ontology/OMIM/MTHU012982","http://purl.bioontology.org/ontology/OMIM/MTHU019425","http://purl.bioontology.org/ontology/OMIM/MTHU002639","http://purl.bioontology.org/ontology/OMIM/MTHU000512","http://purl.bioontology.org/ontology/OMIM/MTHU010818","http://purl.bioontology.org/ontology/OMIM/MTHU000560","http://purl.bioontology.org/ontology/OMIM/MTHU036361","http://purl.bioontology.org/ontology/OMIM/MTHU000389","http://purl.bioontology.org/ontology/OMIM/MTHU019427","http://purl.bioontology.org/ontology/OMIM/MTHU019422","http://purl.bioontology.org/ontology/OMIM/MTHU000036","http://purl.bioontology.org/ontology/OMIM/MTHU000577","http://purl.bioontology.org/ontology/OMIM/MTHU067016","http://purl.bioontology.org/ontology/OMIM/MTHU067015","http://purl.bioontology.org/ontology/OMIM/MTHU000509","http://purl.bioontology.org/ontology/OMIM/MTHU019428","http://purl.bioontology.org/ontology/OMIM/MTHU019423","http://purl.bioontology.org/ontology/OMIM/MTHU036426","http://purl.bioontology.org/ontology/OMIM/MTHU036450","http://purl.bioontology.org/ontology/OMIM/MTHU000189","http://purl.bioontology.org/ontology/OMIM/MTHU019431","http://purl.bioontology.org/ontology/OMIM/MTHU011134","http://purl.bioontology.org/ontology/OMIM/MTHU019426","http://purl.bioontology.org/ontology/OMIM/MTHU000145","http://purl.bioontology.org/ontology/OMIM/MTHU019421","http://purl.bioontology.org/ontology/OMIM/MTHU004645","http://purl.bioontology.org/ontology/OMIM/MTHU019429","http://purl.bioontology.org/ontology/OMIM/MTHU008498","http://purl.bioontology.org/ontology/OMIM/MTHU019430","http://purl.bioontology.org/ontology/OMIM/MTHU000094"],"http://bioportal.bioontology.org/ontologies/umls/tui":["T047"],"http://purl.bioontology.org/ontology/OMIM/GENELOCUS":["18p11.22"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEMEANING":["Phenotype description, molecular basis known."],"http://www.w3.org/2004/02/skos/core#notation":["108145"],"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":["C1862472"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPE":["3"],"http://www.w3.org/2004/02/skos/core#prefLabel":["ARTHROGRYPOSIS, DISTAL, TYPE 5"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEVALUE":["pound"]},"@id":"http://purl.bioontology.org/ontology/OMIM/108145","@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%2F108145","ontology":"https://data.bioontology.org/ontologies/OMIM","children":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F108145/children","parents":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F108145/parents","descendants":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F108145/descendants","ancestors":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F108145/ancestors","instances":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F108145/instances","tree":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F108145/tree","notes":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F108145/notes","mappings":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F108145/mappings","ui":"http://bioportal.bioontology.org/ontologies/OMIM?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F108145","@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:0x00007f9470058690 /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":[]}}