| 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 |
SNOMEDCT_US_2023_03_01:397568004 |
| 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 |