Fanconi anemia complementation group C

Definition

Fanconi anemia caused by mutations of the FANCC gene. This gene provides instructions for making a protein that delays the onset of apoptosis and promotes homologous recombination repair of damaged DNA.

Also known as FA3, FACC, FANCC, Fanconi anaemia complementation group type C, Fanconi anemia complementation group C, Fanconi anemia complementation group type C, Fanconi Anemia, complementation group type C — per MONDO

Also identified as

• DOID 0111087 per MONDO
• NCIT C125704 per MONDO
• OMIM 227645 per MONDO
• UMLS C3468041 per MONDO

Affected Organs