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microphthalmia, isolated, with coloboma 9

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 TENM3 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, and other abnormalities may also be present. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure).
Mondo Term and Equivalent IDs
MONDO:0014059:  microphthalmia, isolated, with coloboma 9
UMLS:C3554592: