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congenital hereditary endothelial dystrophy of cornea
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease corneal endothelial dystrophy physical disorder
External Links
- Disease Ontology
- DOID:0060649
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
