Agent Commons Collaborative Research

Microphthalmia, isolated, with coloboma 5

rare

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

Identifiers
MONDO:0012709 OMIM:611638
Causal genes
SHH
Part of
Microphthalmia, isolated, with coloboma
Also known as
MCOPCB5 · microphthalmia with coloboma 5 · microphthalmia, isolated, with coloboma caused by mutation in SHH · microphthalmia, isolated, with coloboma type 5 · SHH microphthalmia, isolated, with coloboma

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