Visualize Submit Comment
Metadata
ID DOID:0060444
Name granular corneal dystrophy 2
Definition An corneal granular dystrophy that is characterized by recurrent erosions and stellate or thorn-like opacification located_in the cornea, hyaline and amyloid deposits in the stroma, and progressive vision loss later in life, and has_material_basis_in autosomal dominant inheritance of mutation of transforming growth factor beta-induced gene on chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased hyaline and amyloid protein deposition and disruption of the corneal surface.
https://webeye.ophth.uiowa.edu/eyeforum/cases/43-corneal-stromal-dystrophies.htm, https://www.omim.org/entry/607541
Xrefs

MESH:C535474

OMIM:607541

ORDO:98963

SNOMEDCT_US_2023_03_01:397568004

UMLS_CUI:C1275685

Subsets

DO_rare_slim

Synonyms

avellino corneal dystrophy [EXACT]

CGD2 [EXACT]

combined granular-lattice corneal dystrophy [EXACT]

corneal dystrophy, Avellino type [EXACT]

granular corneal dystrophy type 2 [EXACT]

Parent Relationships

is_a granular corneal dystrophy

Add an item to the term tracker