{"code":"C17666","name":"Germline Variation","terminology":"ncit","version":"26.09d","conceptStatus":"DEFAULT","leaf":false,"active":true,"synonyms":[{"name":"GERMLINE VARIATION","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"CDISC"},{"name":"Germline Variation","termType":"DN","type":"FULL_SYN","typeCode":"P90","source":"CTRP"},{"name":"Simple Germline Variation","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"GDC"},{"name":"germline mutation","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI-GLOSS","code":"CDR0000046384"},{"name":"hereditary mutation","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI-GLOSS","code":"CDR0000046365"},{"name":"Germline Mutation","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Germline Mutation Abnormality","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Germline Variant","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Germline Variation","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Hereditary Mutation","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Germline Variation","type":"Display_Name","typeCode":"P107"},{"name":"Germline Variation","type":"Preferred_Name","typeCode":"P108"}],"definitions":[{"definition":"A gene change in the body's reproductive cells (egg or sperm) that becomes incorporated into the DNA of every cell in the body of offspring; germline mutations are passed on from parents to offspring.","code":"P325","type":"ALT_DEFINITION","source":"NCI-GLOSS"},{"definition":"Any inheritable variation in the DNA that is transmitted to the progeny with some frequency.","code":"P325","type":"ALT_DEFINITION","source":"CDISC"},{"definition":"Any mutation that appears in the gametes and which will therefore be transmitted to the progeny with some frequency.","code":"P97","type":"DEFINITION","source":"NCI"}],"properties":[{"code":"P322","type":"Contributing_Source","value":"CDISC"},{"code":"P322","type":"Contributing_Source","value":"CTRP"},{"code":"P322","type":"Contributing_Source","value":"GDC"},{"code":"P366","type":"Legacy Concept Name","value":"Germline_Mutation"},{"code":"P375","type":"Maps_To","value":"Germline"},{"code":"P375","type":"Maps_To","value":"Simple Germline Variation"},{"code":"P106","type":"Semantic_Type","value":"Cell or Molecular Dysfunction"},{"code":"P207","type":"UMLS_CUI","value":"C0206530"}]}