congenital hereditary endothelial dystrophy of cornea

Term ID

DOID:0060649

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

• OMIM:217700

Ontology

Human Disease   ( DOID:0060649 )