Microphthalmia, isolated, with coloboma 5

Definition

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

Also known as microphthalmia with coloboma 5, microphthalmia, isolated, with coloboma 5, microphthalmia, isolated, with coloboma caused by mutation in SHH, microphthalmia, isolated, with coloboma type 5, SHH microphthalmia, isolated, with coloboma — per MONDO

Also identified as

• MESH C566899 per MONDO
• OMIM 611638 per MONDO
• UMLS C1968843 per MONDO