Microphthalmia, isolated, with coloboma 7

Definition

Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the ABCB6 gene.

Also known as ABCB6 microphthalmia, isolated, with coloboma, microphthalmia, isolated, with coloboma 7, microphthalmia, isolated, with coloboma caused by mutation in ABCB6, microphthalmia, isolated, with coloboma type 7 — per MONDO

Also identified as

• OMIM 614497 per MONDO
• UMLS C3281027 per MONDO