OBO ID: DOID:0060649 |
Term Name: | congenital hereditary endothelial dystrophy of cornea | Search Ontology: | |
---|---|---|---|
Synonyms: |
|
||
Definition: | A corneal endothelial dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the SLC4A11 gene, which encodes a sodium borate cotransporter, on chromosome 20p13 and is characterized by thickening and opacification of the cornea, altered morphology of the endothelium, and secretion of an abnormal collagenous layer at the Descemet membrane. https://www.ncbi.nlm.nih.gov/pubmed/16767101 | ||
References: | |||
Ontology: | Human Disease ( DOID:0060649 ) |
OTHER congenital hereditary endothelial dystrophy of cornea 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.