Fanconi anemia complementation group V

Definition

Any Fanconi anemia in which the cause of the disease is a mutation in the MAD2L2 gene.

Also known as Fanconi anaemia caused by mutation in MAD2L2, Fanconi anaemia complementation group type V, Fanconi anemia caused by mutation in MAD2L2, Fanconi anemia complementation group type V, Fanconi Anemia, complementation group type V, Fanconi Anemia, complementation group V, FANCV, MAD2L2 Fanconi anaemia, MAD2L2 Fanconi anemia — per MONDO

Also identified as

• DOID 0111080 per MONDO
• OMIM 617243 per MONDO
• UMLS C4310652 per MONDO