Fanconi anemia complementation group A

Definition

Fanconi anemia caused by mutations of the FANCA gene. FANCA gene mutations are the most common cause of Fanconi anemia. This gene provides instructions for making a protein that is involved in the Fanconi anemia (FA) pathway.

Also known as FANCA, FANCA Fanconi anaemia, FANCA Fanconi anemia, Fanconi anaemia caused by mutation in FANCA, Fanconi anaemia complementation group type A, Fanconi anemia caused by mutation in FANCA, Fanconi anemia complementation group A, Fanconi anemia complementation group type A, Fanconi Anemia, complementation group type a — per MONDO

Also identified as

• DOID 0111095 per MONDO
• NCIT C125702 per MONDO
• OMIM 227650 per MONDO
• UMLS C3469521 per MONDO

Affected Organs