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DOID:0060444 - granular corneal dystrophy 2
Disease Ontology 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.
Synonyms: avellino corneal dystrophy, CGD2, combined granular-lattice corneal dystrophy, corneal dystrophy, Avellino type, granular corneal dystrophy type 2
Xenbase Genes
:
tgfbi
| MONDO:0011855 - granular corneal dystrophy type II |
| MIM:607541 - CORNEAL DYSTROPHY, AVELLINO TYPE; CDA |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee