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nanophthalmos 4

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any nanophthalmia in which the cause of the disease is a mutation in the TMEM98 gene.
Uniprot Description A rare disorder of eye development characterized by extreme hyperopia (farsightedness) and small functional eyes. The cornea and lens are normal in size and shape. Hyperopia occurs because insufficient growth along the visual axis places these lensing components too close to the retina. Nanophthalmic eyes show considerable thickening of both the choroidal vascular bed and scleral coat, which provide nutritive and structural support for the retina.
Mondo Term and Equivalent IDs
MONDO:0014426:  nanophthalmos 4
UMLS:C4014848: