Fanconi anemia complementation group Q

Definition

Any Fanconi anemia in which the cause of the disease is a mutation in the ERCC4 gene.

Also known as ERCC4 Fanconi anaemia, ERCC4 Fanconi anemia, Fanconi anaemia caused by mutation in ERCC4, Fanconi anaemia complementation group type Q, Fanconi anemia caused by mutation in ERCC4, Fanconi anemia complementation group type Q, Fanconi Anemia, complementation group type Q, FANCQ — per MONDO

Also identified as

• DOID 0111093 per MONDO
• OMIM 615272 per MONDO
• UMLS C3808988 per MONDO