{"id":"http://purl.bioontology.org/ontology/OMIM/615084","synonym":["MTDPS11"],"notation":"615084","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C3554462"],"prefLabel":"MITOCHONDRIAL DNA DEPLETION SYNDROME 11","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":["MTDPS11"],"http://purl.bioontology.org/ontology/OMIM/GENESYMBOL":["C20orf72","MTDPS11","MGME1"],"http://purl.bioontology.org/ontology/OMIM/SOS":["Caused by mutation in the mitochondrial genome maintenance exonuclease 1 gene (MGME1, 615076.0001) [MOLECULAR BASIS]","Variable age at onset (range first to fourth decade) [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/MTHU001515","http://purl.bioontology.org/ontology/OMIM/MTHU000269","http://purl.bioontology.org/ontology/OMIM/MTHU006723","http://purl.bioontology.org/ontology/OMIM/MTHU000068","http://purl.bioontology.org/ontology/OMIM/MTHU002853","http://purl.bioontology.org/ontology/OMIM/MTHU036340","http://purl.bioontology.org/ontology/OMIM/MTHU069554","http://purl.bioontology.org/ontology/OMIM/MTHU010469","http://purl.bioontology.org/ontology/OMIM/MTHU036689","http://purl.bioontology.org/ontology/OMIM/MTHU069551","http://purl.bioontology.org/ontology/OMIM/MTHU069553","http://purl.bioontology.org/ontology/OMIM/MTHU000328","http://purl.bioontology.org/ontology/OMIM/MTHU009358","http://purl.bioontology.org/ontology/OMIM/MTHU019869","http://purl.bioontology.org/ontology/OMIM/MTHU000226","http://purl.bioontology.org/ontology/OMIM/MTHU037266","http://purl.bioontology.org/ontology/OMIM/MTHU040924","http://purl.bioontology.org/ontology/OMIM/MTHU040925","http://purl.bioontology.org/ontology/OMIM/MTHU037132","http://purl.bioontology.org/ontology/OMIM/MTHU000681","http://purl.bioontology.org/ontology/OMIM/MTHU000816","http://purl.bioontology.org/ontology/OMIM/MTHU010755","http://purl.bioontology.org/ontology/OMIM/MTHU040926","http://purl.bioontology.org/ontology/OMIM/MTHU040923","http://purl.bioontology.org/ontology/OMIM/MTHU000509","http://purl.bioontology.org/ontology/OMIM/MTHU000133","http://purl.bioontology.org/ontology/OMIM/MTHU043575","http://purl.bioontology.org/ontology/OMIM/MTHU007235","http://purl.bioontology.org/ontology/OMIM/MTHU028990","http://purl.bioontology.org/ontology/OMIM/MTHU043574","http://purl.bioontology.org/ontology/OMIM/MTHU040928","http://purl.bioontology.org/ontology/OMIM/MTHU040934","http://purl.bioontology.org/ontology/OMIM/MTHU001654","http://purl.bioontology.org/ontology/OMIM/MTHU002455","http://purl.bioontology.org/ontology/OMIM/MTHU036957","http://purl.bioontology.org/ontology/OMIM/MTHU069552","http://purl.bioontology.org/ontology/OMIM/MTHU000966"],"http://bioportal.bioontology.org/ontologies/umls/tui":["T047"],"http://purl.bioontology.org/ontology/OMIM/GENELOCUS":["20p11.23"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEMEANING":["Phenotype description, molecular basis known."],"http://www.w3.org/2004/02/skos/core#notation":["615084"],"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":["C3554462"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPE":["3"],"http://www.w3.org/2004/02/skos/core#prefLabel":["MITOCHONDRIAL DNA DEPLETION SYNDROME 11"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEVALUE":["pound"]},"@id":"http://purl.bioontology.org/ontology/OMIM/615084","@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%2F615084","ontology":"https://data.bioontology.org/ontologies/OMIM","children":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F615084/children","parents":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F615084/parents","descendants":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F615084/descendants","ancestors":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F615084/ancestors","instances":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F615084/instances","tree":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F615084/tree","notes":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F615084/notes","mappings":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F615084/mappings","ui":"http://bioportal.bioontology.org/ontologies/OMIM?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F615084","@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":[]}}