Leber congenital amaurosis 17

Definition

Any Leber congenital amaurosis in which the cause of the disease is a mutation in the GDF6 gene.

Also known as GDF6 Leber congenital amaurosis, LCA17, Leber congenital amaurosis 17, Leber congenital amaurosis caused by mutation in GDF6, Leber congenital amaurosis type 17 — per MONDO

Also identified as

• DOID 0110217 per MONDO
• OMIM 615360 per MONDO
• UMLS C3715164 per MONDO