Foveal hypoplasia 1

Definition

Any foveal hypoplasia in which the cause of the disease is a mutation in the PAX6 gene.

Also known as foveal hypoplasia 1, foveal hypoplasia caused by mutation in PAX6, foveal hypoplasia type 1, PAX6 foveal hypoplasia — per MONDO

Also identified as

• DOID 0070530 per MONDO
• OMIM 136520 per MONDO
• UMLS C3805604 per MONDO