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congenital stromal corneal dystrophy

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss.
Uniprot Description A corneal dystrophy characterized by congenital corneal opacification consisting of a large number of flakes and spots throughout all layers of the stroma. It results in progressive, painless visual loss. Corneal erosions and photophobia are absent.
Mondo Term and Equivalent IDs
MONDO:0012401:  congenital stromal corneal dystrophy
MESH:C566452: 
Orphanet:101068: 
SCTID:702359002: 
UMLS:C1864738: