{"code":"C16606","name":"Gene Deletion","terminology":"ncit","version":"26.09d","conceptStatus":"DEFAULT","leaf":false,"active":true,"synonyms":[{"name":"Whole Gene Deletion","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"caDSR"},{"name":"Transcript Ablation","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"GDC"},{"name":"gene deletion","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI-GLOSS","code":"CDR0000046390"},{"name":"Gene Deletion","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Gene Deletion Mutation","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Transcript Ablation","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Gene Deletion","type":"Preferred_Name","typeCode":"P108"}],"definitions":[{"definition":"A deletion that results in the loss of a DNA segment encompassing an entire gene sequence.","code":"P97","type":"DEFINITION","source":"NCI"},{"definition":"The loss of all or a part of a gene. There may also be a change in the RNA and protein made from that gene. Certain gene deletions are found in cancer and in other genetic diseases and abnormalities.","code":"P325","type":"ALT_DEFINITION","source":"NCI-GLOSS"}],"properties":[{"code":"P322","type":"Contributing_Source","value":"GDC"},{"code":"P366","type":"Legacy Concept Name","value":"Gene_Deletion"},{"code":"P375","type":"Maps_To","value":"Transcript Ablation"},{"code":"P106","type":"Semantic_Type","value":"Cell or Molecular Dysfunction"},{"code":"P207","type":"UMLS_CUI","value":"C0017260"}]}