Fanconi anemia complementation group J

Definition

Fanconi anemia caused by mutations in the BRIP1 gene, encoding Fanconi anemia group J protein.

Also known as FANCJ, Fanconi anaemia complementation group type J, Fanconi anemia complementation group J, Fanconi anemia complementation group type J, Fanconi Anemia, complementation group type J — per MONDO

Also identified as

• DOID 0111097 per MONDO
• MESH C563801 per MONDO
• NCIT C129027 per MONDO
• OMIM 609054 per MONDO
• UMLS C1836860 per MONDO

Affected Organs