Isolated microphthalmia 3

Definition

Any isolated microphthalmia in which the cause of the disease is a mutation in the RAX gene.

Also known as isolated microphthalmia 3, isolated microphthalmia caused by mutation in RAX, isolated microphthalmia type 3, MCOP3, microphthalmia, isolated type 3, RAX isolated microphthalmia — per MONDO

Also identified as

• DOID 0060842 per MONDO
• MESH C567025 per MONDO
• OMIM 611038 per MONDO
• UMLS C5774181 per MONDO