{"code":"C18016","name":"Loss of Heterozygosity","terminology":"ncit","version":"26.09d","conceptStatus":"DEFAULT","leaf":false,"active":true,"synonyms":[{"name":"Loss of Heterozygosity","termType":"DN","type":"FULL_SYN","typeCode":"P90","source":"CTRP"},{"name":"LOH","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI-GLOSS","code":"CDR0000486444"},{"name":"loss of heterozygosity","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI-GLOSS","code":"CDR0000464169"},{"name":"LOH","termType":"AB","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Loss of Heterozygosity","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Loss of Heterozygosity","type":"Display_Name","typeCode":"P107"},{"name":"Loss of Heterozygosity","type":"Preferred_Name","typeCode":"P108"}],"definitions":[{"definition":"A genetic variation where gain, loss, or exchange of DNA results in monoallelic loss of function mutations in a diploid cell. In the context of tumor suppressor genes, where a single copy is sufficient for functionality, loss of function for the second allele is associated with tumorigenesis.","code":"P97","type":"DEFINITION","source":"NCI"},{"definition":"If there is one normal and one abnormal allele at a particular locus, as might be seen in an inherited autosomal dominant cancer susceptibility disorder, loss of the normal allele produces a locus with no normal function. When the loss of heterozygosity involves the normal allele, it creates a cell that is more likely to show malignant growth if the altered gene is a tumor suppressor gene.","code":"P325","type":"ALT_DEFINITION","source":"NCI-GLOSS"}],"properties":[{"code":"P322","type":"Contributing_Source","value":"CTRP"},{"code":"P366","type":"Legacy Concept Name","value":"Loss_of_Heterozygosity"},{"code":"P106","type":"Semantic_Type","value":"Cell or Molecular Dysfunction"},{"code":"P207","type":"UMLS_CUI","value":"C0524869"}]}