{"id":"http://purl.bioontology.org/ontology/OMIM/614300","synonym":["MENTAL RETARDATION, AUTOSOMAL RECESSIVE 8, FORMERLY","MRT8, FORMERLY"],"notation":"614300","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C4706555"],"prefLabel":"HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY","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":["MENTAL RETARDATION, AUTOSOMAL RECESSIVE 8, FORMERLY","MRT8, FORMERLY"],"http://purl.bioontology.org/ontology/OMIM/GENESYMBOL":["ADK"],"http://purl.bioontology.org/ontology/OMIM/SOS":["Onset in infancy [MISCELLANEOUS]","Caused by mutation in the adenosine kinase gene (ADK, 102750.0001) [MOLECULAR BASIS]","Six patients have been reported (as of October 2011) [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/MTHU001739","http://purl.bioontology.org/ontology/OMIM/MTHU003093","http://purl.bioontology.org/ontology/OMIM/MTHU006240","http://purl.bioontology.org/ontology/OMIM/MTHU000263","http://purl.bioontology.org/ontology/OMIM/MTHU004506","http://purl.bioontology.org/ontology/OMIM/MTHU006937","http://purl.bioontology.org/ontology/OMIM/MTHU000197","http://purl.bioontology.org/ontology/OMIM/MTHU003427","http://purl.bioontology.org/ontology/OMIM/MTHU002153","http://purl.bioontology.org/ontology/OMIM/MTHU035543","http://purl.bioontology.org/ontology/OMIM/MTHU035547","http://purl.bioontology.org/ontology/OMIM/MTHU015745","http://purl.bioontology.org/ontology/OMIM/MTHU021287","http://purl.bioontology.org/ontology/OMIM/MTHU035546","http://purl.bioontology.org/ontology/OMIM/MTHU024633","http://purl.bioontology.org/ontology/OMIM/MTHU000195","http://purl.bioontology.org/ontology/OMIM/MTHU001311","http://purl.bioontology.org/ontology/OMIM/MTHU035548","http://purl.bioontology.org/ontology/OMIM/MTHU035542","http://purl.bioontology.org/ontology/OMIM/MTHU036339","http://purl.bioontology.org/ontology/OMIM/MTHU006245","http://purl.bioontology.org/ontology/OMIM/MTHU000081","http://purl.bioontology.org/ontology/OMIM/MTHU034579","http://purl.bioontology.org/ontology/OMIM/MTHU003943","http://purl.bioontology.org/ontology/OMIM/MTHU000199","http://purl.bioontology.org/ontology/OMIM/MTHU035545","http://purl.bioontology.org/ontology/OMIM/MTHU011439","http://purl.bioontology.org/ontology/OMIM/MTHU004003","http://purl.bioontology.org/ontology/OMIM/MTHU000242"],"http://bioportal.bioontology.org/ontologies/umls/tui":["T047"],"http://purl.bioontology.org/ontology/OMIM/GENELOCUS":["10q11-q24"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEMEANING":["Phenotype description, molecular basis known."],"http://www.w3.org/2004/02/skos/core#notation":["614300"],"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":["C4706555"],"http://purl.bioontology.org/ontology/OMIM/MOVED_FROM":["611094"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPE":["3"],"http://www.w3.org/2004/02/skos/core#prefLabel":["HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEVALUE":["pound"]},"@id":"http://purl.bioontology.org/ontology/OMIM/614300","@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%2F614300","ontology":"https://data.bioontology.org/ontologies/OMIM","children":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F614300/children","parents":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F614300/parents","descendants":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F614300/descendants","ancestors":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F614300/ancestors","instances":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F614300/instances","tree":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F614300/tree","notes":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F614300/notes","mappings":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F614300/mappings","ui":"http://bioportal.bioontology.org/ontologies/OMIM?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F614300","@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":[]}}