epithelial basement membrane dystrophy

Summary
Synonym
  • Cogan corneal dystrophy
  • EBMD
  • microcystic corneal dystrophy
Definition
An epithelial and subepithelial dystrophy that is characterized by sheet-like areas of basement membrane originating from the basal epithelial cells of the corneal epithelium and extending superficially into the epithelium.
Super Class
autosomal dominant disease epithelial and subepithelial dystrophy
External Links
Disease Ontology
DOID:0060447
Mondo Disease Ontology
MeSH
ORDO
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
7045 TGFBI transforming growth factor beta induced
Displaying 1 entry
Gene ID Gene Symbol Description Source
850687 YLR001C uncharacterized protein

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024