Neutropenia, severe congenital, 2, autosomal dominant

Definition

Any autosomal dominant severe congenital neutropenia in which the cause of the disease is a mutation in the GFI1 gene.

Also known as autosomal dominant severe congenital neutropenia caused by mutation in GFI1, GFI1 autosomal dominant severe congenital neutropenia, neutropenia, severe congenital 2, autosomal dominant, neutropenia, severe congenital, 2, autosomal dominant — per MONDO

Also identified as

• DOID 0112131 per MONDO
• MESH C567748 per MONDO
• OMIM 613107 per MONDO
• UMLS C2751288 per MONDO