OBO ID: DOID:0060455 |
Term Name: | Thiel-Behnke corneal dystrophy | Search Ontology: | |
---|---|---|---|
Synonyms: |
|
||
Definition: | An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and honeycomb-shaped opacification located_in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive early vision loss, 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 especially of Bowman's membrane of the cornea. https://www.omim.org/entry/602082 | ||
References: |
|
||
Ontology: | Human Disease ( DOID:0060455 ) |
OTHER Thiel-Behnke corneal dystrophy PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
Your Input Welcome
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if
additional information is required.
Oops. Something went wrong. Please try again later.