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microphthalmia, isolated, with coloboma 3

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the VSX2 gene.
Uniprot Description A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, cataract and other abnormalities like cataract may also be present.
Mondo Term and Equivalent IDs
MONDO:0012408:  microphthalmia, isolated, with coloboma 3
UMLS:C1864721: