Isolated microphthalmia 6

Definition

Any isolated microphthalmia in which the cause of the disease is a mutation in the PRSS56 gene. This disease includes cases diagnosed as microphthalmos (specifically as posterior microphthalmos) and nanophthalmos.

Also known as isolated microphthalmia caused by mutation in PRSS56, isolated microphthalmia type 6, MCOP6, microphthalmia, isolated type 6, PRSS56 isolated microphthalmia, PRSS56-related nanophthalmos — per MONDO

Also identified as

• DOID 0060835 per MONDO
• OMIM 613517 per MONDO
• UMLS C3150757 per MONDO