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Metadata
ID	DOID:0060649
Name	congenital hereditary endothelial dystrophy of cornea
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
Xrefs	MIM:217700
Synonyms	CHED [EXACT]
Parent Relationships	is_a physical disorder is_a corneal endothelial dystrophy is_a autosomal recessive disease