OBO ID: DOID:0060649
Term Name: congenital hereditary endothelial dystrophy of cornea Search Ontology:
Synonyms:
  • CHED
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
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SLC4A11 Corneal endothelial dystrophy, autosomal recessive 217700
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None