loading...| Preferred Name |
Loss of Heterozygosity |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C18016 |
| ALT_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 |
C18016 |
| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116977 |
| Contributing_Source |
CTRP |
| 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. |
| Display_Name |
Loss of Heterozygosity |
| FULL_SYN |
loss of heterozygosity Loss of Heterozygosity LOH |
| label |
Loss of Heterozygosity |
| Legacy Concept Name |
Loss_of_Heterozygosity |
| Preferred_Name |
Loss of Heterozygosity |
| prefixIRI |
Thesaurus:C18016 |
| prefLabel |
Loss of Heterozygosity |
| Semantic_Type |
Cell or Molecular Dysfunction |
| UMLS_CUI |
C0524869 |
| subClassOf |