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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.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:615972
UMLS:C4014848
MONDO:0014426
High level summary of knowledge for a disease, including descriptions and datasource references.