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Disease Ontology Browser
granular corneal dystrophy 2 (DOID:0060444)
Alliance: disease page
Synonyms: avellino corneal dystrophy; CGD2; combined granular-lattice corneal dystrophy; corneal dystrophy, Avellino type; granular corneal dystrophy type 2
Alt IDs: OMIM:607541, MESH:C535474, ORDO:98963, UMLS_CUI:C1275685
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory