{"id":"http://purl.bioontology.org/ontology/OMIM/603041","synonym":["MNGIE, TYMP-RELATED","MYONEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME","POLIP SYNDROME","MTDPS1","POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION","MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, TYMP-RELATED"],"notation":"603041","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C0872218","C4551995"],"prefLabel":"MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE)","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":["MNGIE, TYMP-RELATED","MYONEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME","POLIP SYNDROME","MTDPS1","POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION","MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, TYMP-RELATED"],"http://purl.bioontology.org/ontology/OMIM/GENESYMBOL":["MTDPS1","PDECGF","TYMP","MNGIE","ECGF1","MEDPS1"],"http://purl.bioontology.org/ontology/OMIM/SOS":["Onset in second to fifth decade [MISCELLANEOUS]","Caused by mutation in the thymidine phosphorylase gene (TYMP, 131222.0001) [MOLECULAR BASIS]","Early death in early adulthood often associated with diverticulitis and intestinal perforation [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/MTHU000329","http://purl.bioontology.org/ontology/OMIM/MTHU025378","http://purl.bioontology.org/ontology/OMIM/MTHU005163","http://purl.bioontology.org/ontology/OMIM/MTHU005164","http://purl.bioontology.org/ontology/OMIM/MTHU005173","http://purl.bioontology.org/ontology/OMIM/MTHU005166","http://purl.bioontology.org/ontology/OMIM/MTHU036407","http://purl.bioontology.org/ontology/OMIM/MTHU036932","http://purl.bioontology.org/ontology/OMIM/MTHU005170","http://purl.bioontology.org/ontology/OMIM/MTHU005172","http://purl.bioontology.org/ontology/OMIM/MTHU036657","http://purl.bioontology.org/ontology/OMIM/MTHU005165","http://purl.bioontology.org/ontology/OMIM/MTHU033344","http://purl.bioontology.org/ontology/OMIM/MTHU033348","http://purl.bioontology.org/ontology/OMIM/MTHU034460","http://purl.bioontology.org/ontology/OMIM/MTHU033352","http://purl.bioontology.org/ontology/OMIM/MTHU005168","http://purl.bioontology.org/ontology/OMIM/MTHU033351","http://purl.bioontology.org/ontology/OMIM/MTHU001420","http://purl.bioontology.org/ontology/OMIM/MTHU032440","http://purl.bioontology.org/ontology/OMIM/MTHU001673","http://purl.bioontology.org/ontology/OMIM/MTHU005174","http://purl.bioontology.org/ontology/OMIM/MTHU000195","http://purl.bioontology.org/ontology/OMIM/MTHU033350","http://purl.bioontology.org/ontology/OMIM/MTHU026283","http://purl.bioontology.org/ontology/OMIM/MTHU000225","http://purl.bioontology.org/ontology/OMIM/MTHU000509","http://purl.bioontology.org/ontology/OMIM/MTHU005171","http://purl.bioontology.org/ontology/OMIM/MTHU014943","http://purl.bioontology.org/ontology/OMIM/MTHU001039","http://purl.bioontology.org/ontology/OMIM/MTHU033347","http://purl.bioontology.org/ontology/OMIM/MTHU033349","http://purl.bioontology.org/ontology/OMIM/MTHU005162","http://purl.bioontology.org/ontology/OMIM/MTHU005167","http://purl.bioontology.org/ontology/OMIM/MTHU000700","http://purl.bioontology.org/ontology/OMIM/MTHU032437","http://purl.bioontology.org/ontology/OMIM/MTHU005169"],"http://bioportal.bioontology.org/ontologies/umls/tui":["T047"],"http://purl.bioontology.org/ontology/OMIM/GENELOCUS":["22q13.32-qter"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEMEANING":["Phenotype description, molecular basis known."],"http://www.w3.org/2004/02/skos/core#notation":["603041"],"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":["C0872218","C4551995"],"http://purl.bioontology.org/ontology/OMIM/MOVED_FROM":["550900"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPE":["3"],"http://www.w3.org/2004/02/skos/core#prefLabel":["MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE)"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEVALUE":["pound"]},"@id":"http://purl.bioontology.org/ontology/OMIM/603041","@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%2F603041","ontology":"https://data.bioontology.org/ontologies/OMIM","children":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F603041/children","parents":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F603041/parents","descendants":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F603041/descendants","ancestors":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F603041/ancestors","instances":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F603041/instances","tree":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F603041/tree","notes":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F603041/notes","mappings":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F603041/mappings","ui":"http://bioportal.bioontology.org/ontologies/OMIM?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F603041","@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:0x00007f771cfb6360 /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":[]}}