congenital hereditary endothelial dystrophy of cornea

Summary

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

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: slc4a11

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009019 - congenital hereditary endothelial dystrophy of cornea

MONDO:0009019 - congenital hereditary endothelial dystrophy of cornea

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), corneal endothelial dystrophy (is_a), physical disorder (is_a)