OBO ID: DOID:0080530
Term Name: granular corneal dystrophy 1 Search Ontology:
Synonyms:
  • corneal dystrophy, Groenouw type I
Definition: A granular corneal dystrophy that is characterized by recurrent erosions and gray crumb-like opacification located_in the cornea, proteinaceous rock candy-like deposits in the anterior stroma and subepithelium, and progressive vision loss later in life as deposits move into the central vision, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption of the corneal surface. https://omim.org/entry/121900?search=121900&highlight=121900
References:
Ontology: Human Disease   (DOID:0080530)
OTHER granular corneal dystrophy 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TGFBI Corneal dystrophy, Groenouw type I 121900
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None