Preferred Label : Fanconi anemia, complementation group m;
Obsolete resource : true;
Moved to : 227650; 609644;
Alternative titles and symbols : Fancm;
Description : Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes
genomic instability. Characteristic clinical features include developmental abnormalities
in major organ systems, early-onset bone marrow failure, and a high predisposition
to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents
and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary
by Deakyne and Mazin, 2011). For additional general information and a discussion of
genetic heterogeneity of Fanconi anemia, see 227650.;
Prefixed ID : 614087;
Origin ID : 614087;
UMLS CUI : C1708000;
See also inter- (CISMeF)
- Semantic type(s)
- UMLS correspondences (same concept)
