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isolated microphthalmia 7

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any isolated microphthalmia in which the cause of the disease is a mutation in the GDF3 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.
Disease Ontology Description A microphthalmia characterized by unilateral microphthalmia that has_material_basis_in caused by mutation in the GDF3 gene on chromosome 12p13.
Mondo Term and Equivalent IDs
MONDO:0013377:  isolated microphthalmia 7
UMLS:C3150969: