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DOID:0060649 - congenital hereditary endothelial dystrophy of cornea
Disease Ontology 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.
Synonyms: CHED,
Echinobase Genes
:
slc4a11
| MIM:217700 - corneal endothelial dystrophy 2, autosomal recessive; ched2 |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
corneal endothelial dystrophy (is_a)