{"code":"C84737","name":"Glycogen Storage Disease Type IV","terminology":"ncit","version":"26.10d","conceptStatus":"DEFAULT","leaf":true,"active":true,"synonyms":[{"name":"Glycogen Storage Disease Type IV","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"Cellosaurus"},{"name":"Glycogen Storage Disease Type IV","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Glycogen Storage Disease Type IV","type":"Preferred_Name","typeCode":"P108"}],"definitions":[{"definition":"A rare inherited type of glycogen storage disease caused by autosomal recessive mutation(s) of the GBE1 gene leading to a deficiency of glycogen branching enzyme (amylo-1,4-1,6 transglucosidase).","code":"P97","type":"DEFINITION","source":"NCI"}],"properties":[{"code":"P322","type":"Contributing_Source","value":"Cellosaurus"},{"code":"P106","type":"Semantic_Type","value":"Disease or Syndrome"},{"code":"P207","type":"UMLS_CUI","value":"C0017923"}],"parents":[{"code":"C61272","name":"Glycogen Storage Disease"}],"roles":[{"code":"R176","type":"Disease_Mapped_To_Gene","relatedCode":"C217300","relatedName":"GBE1 Gene"},{"code":"R108","type":"Disease_Has_Finding","relatedCode":"C42094","relatedName":"Rare Lesion"}]}