MONDO_0012709 (microphthalmia, isolated, with coloboma 5) is any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the SHH gene. Also known as: SHH microphthalmia, isolated, with coloboma, Shh microphthalmia, isolated, with coloboma, microphthalmia with coloboma 5, microphthalmia, isolated, with coloboma caused by mutation in SHH, microphthalmia, isolated, with coloboma caused by mutation in Shh, microphthalmia, isolated, with coloboma type 5.